A latent susceptibility to disease at the genetic level, which may be activated under certain conditions.
The genetic constitution of the individual, comprising the ALLELES present at each GENETIC LOCUS.
The regular and simultaneous occurrence in a single interbreeding population of two or more discontinuous genotypes. The concept includes differences in genotypes ranging in size from a single nucleotide site (POLYMORPHISM, SINGLE NUCLEOTIDE) to large nucleotide sequences visible at a chromosomal level.
Variant forms of the same gene, occupying the same locus on homologous CHROMOSOMES, and governing the variants in production of the same gene product.
A single nucleotide variation in a genetic sequence that occurs at appreciable frequency in the population.
The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition.
Any detectable and heritable alteration in the lineage of germ cells. Mutations in these cells (i.e., "generative" cells ancestral to the gametes) are transmitted to progeny while those in somatic cells are not.
The proportion of one particular in the total of all ALLELES for one genetic locus in a breeding POPULATION.
Studies which start with the identification of persons with a disease of interest and a control (comparison, referent) group without the disease. The relationship of an attribute to the disease is examined by comparing diseased and non-diseased persons with regard to the frequency or levels of the attribute in each group.
An aspect of personal behavior or lifestyle, environmental exposure, or inborn or inherited characteristic, which, on the basis of epidemiologic evidence, is known to be associated with a health-related condition considered important to prevent.
A constitution or condition of the body which makes the tissues react in special ways to certain extrinsic stimuli and thus tends to make the individual more than usually susceptible to certain diseases.
Detection of a MUTATION; GENOTYPE; KARYOTYPE; or specific ALLELES associated with genetic traits, heritable diseases, or predisposition to a disease, or that may lead to the disease in descendants. It includes prenatal genetic testing.
The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.
The genetic constitution of individuals with respect to one member of a pair of allelic genes, or sets of genes that are closely linked and tend to be inherited together such as those of the MAJOR HISTOCOMPATIBILITY COMPLEX.
A phenotypically recognizable genetic trait which can be used to identify a genetic locus, a linkage group, or a recombination event.
The health status of the family as a unit including the impact of the health of one member of the family on the family as a unit and on individual family members; also, the impact of family organization or disorganization on the health status of its members.
The co-inheritance of two or more non-allelic GENES due to their being located more or less closely on the same CHROMOSOME.
Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations.
The condition of a pattern of malignancies within a family, but not every individual's necessarily having the same neoplasm. Characteristically the tumor tends to occur at an earlier than average age, individuals may have more than one primary tumor, the tumors may be multicentric, usually more than 25 percent of the individuals in direct lineal descent from the proband are affected, and the cancer predisposition in these families behaves as an autosomal dominant trait with about 60 percent penetrance.
The combined effects of genotypes and environmental factors together on phenotypic characteristics.
Measurement of the dimensions and capacity of the pelvis. It includes cephalopelvimetry (measurement of fetal head size in relation to maternal pelvic capacity), a prognostic guide to the management of LABOR, OBSTETRIC associated with disproportion.
The age, developmental stage, or period of life at which a disease or the initial symptoms or manifestations of a disease appear in an individual.
The analysis of a sequence such as a region of a chromosome, a haplotype, a gene, or an allele for its involvement in controlling the phenotype of a specific trait, metabolic pathway, or disease.
The transmission of traits encoded in GENES from parent to offspring.
Any method used for determining the location of and relative distances between genes on a chromosome.
Naturally occurring or experimentally induced animal diseases with pathological processes sufficiently similar to those of human diseases. They are used as study models for human diseases.
An analysis comparing the allele frequencies of all available (or a whole GENOME representative set of) polymorphic markers in unrelated patients with a specific symptom or disease condition, and those of healthy controls to identify markers associated with a specific disease or condition.
A group of the D-related HLA antigens found to differ from the DR antigens in genetic locus and therefore inheritance. These antigens are polymorphic glycoproteins comprising alpha and beta chains and are found on lymphoid and other cells, often associated with certain diseases.
Two off-spring from the same PREGNANCY. They are from a single fertilized OVUM that split into two EMBRYOS. Such twins are usually genetically identical and of the same sex.
A social group consisting of parents or parent substitutes and children.
Biochemical identification of mutational changes in a nucleotide sequence.
A status with BODY WEIGHT that is grossly above the acceptable or desirable weight, usually due to accumulation of excess FATS in the body. The standards may vary with age, sex, genetic or cultural background. In the BODY MASS INDEX, a BMI greater than 30.0 kg/m2 is considered obese, and a BMI greater than 40.0 kg/m2 is considered morbidly obese (MORBID OBESITY).
I'm sorry for any confusion, but "Hungary" is not a medical term; it is a country located in Central Europe, and its name should not be used in the context of medical definitions.
The percent frequency with which a dominant or homozygous recessive gene or gene combination manifests itself in the phenotype of the carriers. (From Glossary of Genetics, 5th ed)
A subclass of DIABETES MELLITUS that is not INSULIN-responsive or dependent (NIDDM). It is characterized initially by INSULIN RESISTANCE and HYPERINSULINEMIA; and eventually by GLUCOSE INTOLERANCE; HYPERGLYCEMIA; and overt diabetes. Type II diabetes mellitus is no longer considered a disease exclusively found in adults. Patients seldom develop KETOSIS but often exhibit OBESITY.
Transmembrane proteins that form the beta subunits of the HLA-DQ antigens.
Specific regions that are mapped within a GENOME. Genetic loci are usually identified with a shorthand notation that indicates the chromosome number and the position of a specific band along the P or Q arm of the chromosome where they are found. For example the locus 6p21 is found within band 21 of the P-arm of CHROMOSOME 6. Many well known genetic loci are also known by common names that are associated with a genetic function or HEREDITARY DISEASE.
Genotypic differences observed among individuals in a population.
Nonrandom association of linked genes. This is the tendency of the alleles of two separate but already linked loci to be found together more frequently than would be expected by chance alone.
Individuals whose ancestral origins are in the continent of Europe.
A tumor suppressor gene (GENES, TUMOR SUPPRESSOR) located on human CHROMOSOME 17 at locus 17q21. Mutations of this gene are associated with the formation of HEREDITARY BREAST AND OVARIAN CANCER SYNDROME. It encodes a large nuclear protein that is a component of DNA repair pathways.
An individual having different alleles at one or more loci regarding a specific character.
Disorders affecting TWINS, one or both, at any age.
A variety of simple repeat sequences that are distributed throughout the GENOME. They are characterized by a short repeat unit of 2-8 basepairs that is repeated up to 100 times. They are also known as short tandem repeats (STRs).
Studies in which subsets of a defined population are identified. These groups may or may not be exposed to factors hypothesized to influence the probability of the occurrence of a particular disease or other outcome. Cohorts are defined populations which, as a whole, are followed in an attempt to determine distinguishing subgroup characteristics.
A subtype of HLA-DRB beta chains that includes over one hundred allele variants. The HLA-DRB1 subtype is associated with several of the HLA-DR SEROLOGICAL SUBTYPES.
Two or more abnormal growths of tissue occurring simultaneously and presumed to be of separate origin. The neoplasms may be histologically the same or different, and may be found in the same or different sites.
The probability that an event will occur. It encompasses a variety of measures of the probability of a generally unfavorable outcome.
The external elements and conditions which surround, influence, and affect the life and development of an organism or population.
New abnormal growth of tissue. Malignant neoplasms show a greater degree of anaplasia and have the properties of invasion and metastasis, compared to benign neoplasms.
The relating of causes to the effects they produce. Causes are termed necessary when they must always precede an effect and sufficient when they initiate or produce an effect. Any of several factors may be associated with the potential disease causation or outcome, including predisposing factors, enabling factors, precipitating factors, reinforcing factors, and risk factors.
Individuals whose ancestral origins are in the southeastern and eastern areas of the Asian continent.
Age as a constituent element or influence contributing to the production of a result. It may be applicable to the cause or the effect of a circumstance. It is used with human or animal concepts but should be differentiated from AGING, a physiological process, and TIME FACTORS which refers only to the passage of time.
The number of new cases of a given disease during a given period in a specified population. It also is used for the rate at which new events occur in a defined population. It is differentiated from PREVALENCE, which refers to all cases, new or old, in the population at a given time.
Disorders that are characterized by the production of antibodies that react with host tissues or immune effector cells that are autoreactive to endogenous peptides.
An individual in which both alleles at a given locus are identical.
Variation in a population's DNA sequence that is detected by determining alterations in the conformation of denatured DNA fragments. Denatured DNA fragments are allowed to renature under conditions that prevent the formation of double-stranded DNA and allow secondary structure to form in single stranded fragments. These fragments are then run through polyacrylamide gels to detect variations in the secondary structure that is manifested as an alteration in migration through the gels.
Abnormal growths of tissue that follow a previous neoplasm but are not metastases of the latter. The second neoplasm may have the same or different histological type and can occur in the same or different organs as the previous neoplasm but in all cases arises from an independent oncogenic event. The development of the second neoplasm may or may not be related to the treatment for the previous neoplasm since genetic risk or predisposing factors may actually be the cause.
In vitro method for producing large amounts of specific DNA or RNA fragments of defined length and sequence from small amounts of short oligonucleotide flanking sequences (primers). The essential steps include thermal denaturation of the double-stranded target molecules, annealing of the primers to their complementary sequences, and extension of the annealed primers by enzymatic synthesis with DNA polymerase. The reaction is efficient, specific, and extremely sensitive. Uses for the reaction include disease diagnosis, detection of difficult-to-isolate pathogens, mutation analysis, genetic testing, DNA sequencing, and analyzing evolutionary relationships.
Tumors or cancer of the human BREAST.
The ratio of two odds. The exposure-odds ratio for case control data is the ratio of the odds in favor of exposure among cases to the odds in favor of exposure among noncases. The disease-odds ratio for a cohort or cross section is the ratio of the odds in favor of disease among the exposed to the odds in favor of disease among the unexposed. The prevalence-odds ratio refers to an odds ratio derived cross-sectionally from studies of prevalent cases.
The different ways GENES and their ALLELES interact during the transmission of genetic traits that effect the outcome of GENE EXPRESSION.
The qualitative or quantitative estimation of the likelihood of adverse effects that may result from exposure to specified health hazards or from the absence of beneficial influences. (Last, Dictionary of Epidemiology, 1988)
Antigens determined by leukocyte loci found on chromosome 6, the major histocompatibility loci in humans. They are polypeptides or glycoproteins found on most nucleated cells and platelets, determine tissue types for transplantation, and are associated with certain diseases.
Genetically identical individuals developed from brother and sister matings which have been carried out for twenty or more generations, or by parent x offspring matings carried out with certain restrictions. All animals within an inbred strain trace back to a common ancestor in the twentieth generation.
Process whereby the immune system reacts against the body's own tissues. Autoimmunity may produce or be caused by AUTOIMMUNE DISEASES.
The status during which female mammals carry their developing young (EMBRYOS or FETUSES) in utero before birth, beginning from FERTILIZATION to BIRTH.
Inflammatory disease of the THYROID GLAND due to autoimmune responses leading to lymphocytic infiltration of the gland. It is characterized by the presence of circulating thyroid antigen-specific T-CELLS and thyroid AUTOANTIBODIES. The clinical signs can range from HYPOTHYROIDISM to THYROTOXICOSIS depending on the type of autoimmune thyroiditis.
A characteristic symptom complex.
A specific pair of human chromosomes in group A (CHROMOSOMES, HUMAN, 1-3) of the human chromosome classification.
The total relative probability, expressed on a logarithmic scale, that a linkage relationship exists among selected loci. Lod is an acronym for "logarithmic odds."
FIBROSIS of the hepatic parenchyma due to obstruction of BILE flow (CHOLESTASIS) in the intrahepatic or extrahepatic bile ducts (BILE DUCTS, INTRAHEPATIC; BILE DUCTS, EXTRAHEPATIC). Primary biliary cirrhosis involves the destruction of small intra-hepatic bile ducts and bile secretion. Secondary biliary cirrhosis is produced by prolonged obstruction of large intrahepatic or extrahepatic bile ducts from a variety of causes.
A subclass of HLA-D antigens that consist of alpha and beta chains. The inheritance of HLA-DR antigens differs from that of the HLA-DQ ANTIGENS and HLA-DP ANTIGENS.
Persistently high systemic arterial BLOOD PRESSURE. Based on multiple readings (BLOOD PRESSURE DETERMINATION), hypertension is currently defined as when SYSTOLIC PRESSURE is consistently greater than 140 mm Hg or when DIASTOLIC PRESSURE is consistently 90 mm Hg or more.
A specific pair GROUP C CHROMSOMES of the human chromosome classification.
An indicator of body density as determined by the relationship of BODY WEIGHT to BODY HEIGHT. BMI=weight (kg)/height squared (m2). BMI correlates with body fat (ADIPOSE TISSUE). Their relationship varies with age and gender. For adults, BMI falls into these categories: below 18.5 (underweight); 18.5-24.9 (normal); 25.0-29.9 (overweight); 30.0 and above (obese). (National Center for Health Statistics, Centers for Disease Control and Prevention)
Antibodies that react with self-antigens (AUTOANTIGENS) of the organism that produced them.
A malabsorption syndrome that is precipitated by the ingestion of foods containing GLUTEN, such as wheat, rye, and barley. It is characterized by INFLAMMATION of the SMALL INTESTINE, loss of MICROVILLI structure, failed INTESTINAL ABSORPTION, and MALNUTRITION.
A chronic transmural inflammation that may involve any part of the DIGESTIVE TRACT from MOUTH to ANUS, mostly found in the ILEUM, the CECUM, and the COLON. In Crohn disease, the inflammation, extending through the intestinal wall from the MUCOSA to the serosa, is characteristically asymmetric and segmental. Epithelioid GRANULOMAS may be seen in some patients.
The total number of cases of a given disease in a specified population at a designated time. It is differentiated from INCIDENCE, which refers to the number of new cases in the population at a given time.
Variation occurring within a species in the presence or length of DNA fragment generated by a specific endonuclease at a specific site in the genome. Such variations are generated by mutations that create or abolish recognition sites for these enzymes or change the length of the fragment.
An infant during the first month after birth.
Inhaling and exhaling the smoke of burning TOBACCO.
The sequence of PURINES and PYRIMIDINES in nucleic acids and polynucleotides. It is also called nucleotide sequence.
Persons or animals having at least one parent in common. (American College Dictionary, 3d ed)
A severe emotional disorder of psychotic depth characteristically marked by a retreat from reality with delusion formation, HALLUCINATIONS, emotional disharmony, and regressive behavior.
A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.
KIDNEY injuries associated with diabetes mellitus and affecting KIDNEY GLOMERULUS; ARTERIOLES; KIDNEY TUBULES; and the interstitium. Clinical signs include persistent PROTEINURIA, from microalbuminuria progressing to ALBUMINURIA of greater than 300 mg/24 h, leading to reduced GLOMERULAR FILTRATION RATE and END-STAGE RENAL DISEASE.
A subtype of DIABETES MELLITUS that is characterized by INSULIN deficiency. It is manifested by the sudden onset of severe HYPERGLYCEMIA, rapid progression to DIABETIC KETOACIDOSIS, and DEATH unless treated with insulin. The disease may occur at any age, but is most common in childhood or adolescence.
Two offspring from the same PREGNANCY. They are from two OVA, fertilized at about the same time by two SPERMATOZOA. Such twins are genetically distinct and can be of different sexes.
Elements of limited time intervals, contributing to particular results or situations.
Tumors or cancer of the SKIN.
The exposure to potentially harmful chemical, physical, or biological agents in the environment or to environmental factors that may include ionizing radiation, pathogenic organisms, or toxic chemicals.
Inbred C57BL mice are a strain of laboratory mice that have been produced by many generations of brother-sister matings, resulting in a high degree of genetic uniformity and homozygosity, making them widely used for biomedical research, including studies on genetics, immunology, cancer, and neuroscience.
Maleness or femaleness as a constituent element or influence contributing to the production of a result. It may be applicable to the cause or effect of a circumstance. It is used with human or animal concepts but should be differentiated from SEX CHARACTERISTICS, anatomical or physiological manifestations of sex, and from SEX DISTRIBUTION, the number of males and females in given circumstances.
Deliberate breeding of two different individuals that results in offspring that carry part of the genetic material of each parent. The parent organisms must be genetically compatible and may be from different varieties or closely related species.
A peptidyl-dipeptidase that catalyzes the release of a C-terminal dipeptide, -Xaa-*-Xbb-Xcc, when neither Xaa nor Xbb is Pro. It is a Cl(-)-dependent, zinc glycoprotein that is generally membrane-bound and active at neutral pH. It may also have endopeptidase activity on some substrates. (From Enzyme Nomenclature, 1992) EC 3.4.15.1.
A country spanning from central Asia to the Pacific Ocean.
Descriptions of specific amino acid, carbohydrate, or nucleotide sequences which have appeared in the published literature and/or are deposited in and maintained by databanks such as GENBANK, European Molecular Biology Laboratory (EMBL), National Biomedical Research Foundation (NBRF), or other sequence repositories.
DNA sequences which are recognized (directly or indirectly) and bound by a DNA-dependent RNA polymerase during the initiation of transcription. Highly conserved sequences within the promoter include the Pribnow box in bacteria and the TATA BOX in eukaryotes.
A primary, chronic disease with genetic, psychosocial, and environmental factors influencing its development and manifestations. The disease is often progressive and fatal. It is characterized by impaired control over drinking, preoccupation with the drug alcohol, use of alcohol despite adverse consequences, and distortions in thinking, most notably denial. Each of these symptoms may be continuous or periodic. (Morse & Flavin for the Joint Commission of the National Council on Alcoholism and Drug Dependence and the American Society of Addiction Medicine to Study the Definition and Criteria for the Diagnosis of Alcoholism: in JAMA 1992;268:1012-4)
Typical way of life or manner of living characteristic of an individual or group. (From APA, Thesaurus of Psychological Index Terms, 8th ed)
## I'm sorry for any confusion, but "Japan" is not a medical term or concept. It is a country located in Asia, known as Nihon-koku or Nippon-koku in Japanese, and is renowned for its unique culture, advanced technology, and rich history. If you have any questions related to medical topics, I would be happy to help answer them!
A family of structurally-related DNA helicases that play an essential role in the maintenance of genome integrity. RecQ helicases were originally discovered in E COLI and are highly conserved across both prokaryotic and eukaryotic organisms. Genetic mutations that result in loss of RecQ helicase activity gives rise to disorders that are associated with CANCER predisposition and premature aging.
I'm sorry for any confusion, but "Germany" is a country and not a medical term or concept. Therefore, it doesn't have a medical definition. It is located in Central Europe and is known for its advanced medical research and facilities.
Regular course of eating and drinking adopted by a person or animal.
The parts of a transcript of a split GENE remaining after the INTRONS are removed. They are spliced together to become a MESSENGER RNA or other functional RNA.
A distribution in which a variable is distributed like the sum of the squares of any given independent random variable, each of which has a normal distribution with mean of zero and variance of one. The chi-square test is a statistical test based on comparison of a test statistic to a chi-square distribution. The oldest of these tests are used to detect whether two or more population distributions differ from one another.
The complete genetic complement contained in the DNA of a set of CHROMOSOMES in a HUMAN. The length of the human genome is about 3 billion base pairs.
The restriction of a characteristic behavior, anatomical structure or physical system, such as immune response; metabolic response, or gene or gene variant to the members of one species. It refers to that property which differentiates one species from another but it is also used for phylogenetic levels higher or lower than the species.
The worsening of a disease over time. This concept is most often used for chronic and incurable diseases where the stage of the disease is an important determinant of therapy and prognosis.
Chronic inflammatory and autoimmune disease in which the salivary and lacrimal glands undergo progressive destruction by lymphocytes and plasma cells resulting in decreased production of saliva and tears. The primary form, often called sicca syndrome, involves both KERATOCONJUNCTIVITIS SICCA and XEROSTOMIA. The secondary form includes, in addition, the presence of a connective tissue disease, usually rheumatoid arthritis.
Proteins which bind to DNA. The family includes proteins which bind to both double- and single-stranded DNA and also includes specific DNA binding proteins in serum which can be used as markers for malignant diseases.
A chronic, relapsing, inflammatory, and often febrile multisystemic disorder of connective tissue, characterized principally by involvement of the skin, joints, kidneys, and serosal membranes. It is of unknown etiology, but is thought to represent a failure of the regulatory mechanisms of the autoimmune system. The disease is marked by a wide range of system dysfunctions, an elevated erythrocyte sedimentation rate, and the formation of LE cells in the blood or bone marrow.
Genetic loci associated with a QUANTITATIVE TRAIT.
Abnormal number or structure of chromosomes. Chromosome aberrations may result in CHROMOSOME DISORDERS.
Theoretical representations that simulate the behavior or activity of genetic processes or phenomena. They include the use of mathematical equations, computers, and other electronic equipment.
An autosomal recessive disorder characterized by telangiectatic ERYTHEMA of the face, photosensitivity, DWARFISM and other abnormalities, and a predisposition toward developing cancer. The Bloom syndrome gene (BLM) encodes a RecQ-like DNA helicase.
Observation of a population for a sufficient number of persons over a sufficient number of years to generate incidence or mortality rates subsequent to the selection of the study group.
The part of CENTRAL NERVOUS SYSTEM that is contained within the skull (CRANIUM). Arising from the NEURAL TUBE, the embryonic brain is comprised of three major parts including PROSENCEPHALON (the forebrain); MESENCEPHALON (the midbrain); and RHOMBENCEPHALON (the hindbrain). The developed brain consists of CEREBRUM; CEREBELLUM; and other structures in the BRAIN STEM.
A country in western Europe bordered by the Atlantic Ocean, the English Channel, the Mediterranean Sea, and the countries of Belgium, Germany, Italy, Spain, Switzerland, the principalities of Andorra and Monaco, and by the duchy of Luxembourg. Its capital is Paris.
Inflammation of the COLON that is predominantly confined to the MUCOSA. Its major symptoms include DIARRHEA, rectal BLEEDING, the passage of MUCUS, and ABDOMINAL PAIN.
Individuals whose ancestral origins are in the continent of Africa.
Statistical models which describe the relationship between a qualitative dependent variable (that is, one which can take only certain discrete values, such as the presence or absence of a disease) and an independent variable. A common application is in epidemiology for estimating an individual's risk (probability of a disease) as a function of a given risk factor.
Feeling or emotion of dread, apprehension, and impending disaster but not disabling as with ANXIETY DISORDERS.
Congenital disorder affecting all bone marrow elements, resulting in ANEMIA; LEUKOPENIA; and THROMBOPENIA, and associated with cardiac, renal, and limb malformations as well as dermal pigmentary changes. Spontaneous CHROMOSOME BREAKAGE is a feature of this disease along with predisposition to LEUKEMIA. There are at least 7 complementation groups in Fanconi anemia: FANCA, FANCB, FANCC, FANCD1, FANCD2, FANCE, FANCF, FANCG, and FANCL. (from Online Mendelian Inheritance in Man, http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=227650, August 20, 2004)
A pathological process characterized by injury or destruction of tissues caused by a variety of cytologic and chemical reactions. It is usually manifested by typical signs of pain, heat, redness, swelling, and loss of function.
Rare autosomal dominant syndrome characterized by mesenchymal and epithelial neoplasms at multiple sites. MUTATION of the p53 tumor suppressor gene, a component of the DNA DAMAGE response pathway, apparently predisposes family members who inherit it to develop certain cancers. The spectrum of cancers in the syndrome was shown to include, in addition to BREAST CANCER and soft tissue sarcomas (SARCOMA); BRAIN TUMORS; OSTEOSARCOMA; LEUKEMIA; and ADRENOCORTICAL CARCINOMA.
Chronic, non-specific inflammation of the GASTROINTESTINAL TRACT. Etiology may be genetic or environmental. This term includes CROHN DISEASE and ULCERATIVE COLITIS.
Stress wherein emotional factors predominate.
Tumors or cancer of the COLON or the RECTUM or both. Risk factors for colorectal cancer include chronic ULCERATIVE COLITIS; FAMILIAL POLYPOSIS COLI; exposure to ASBESTOS; and irradiation of the CERVIX UTERI.
A deoxyribonucleotide polymer that is the primary genetic material of all cells. Eukaryotic and prokaryotic organisms normally contain DNA in a double-stranded state, yet several important biological processes transiently involve single-stranded regions. DNA, which consists of a polysugar-phosphate backbone possessing projections of purines (adenine and guanine) and pyrimidines (thymine and cytosine), forms a double helix that is held together by hydrogen bonds between these purines and pyrimidines (adenine to thymine and guanine to cytosine).
The determination of the pattern of genes expressed at the level of GENETIC TRANSCRIPTION, under specific circumstances or in a specific cell.
Laboratory mice that have been produced from a genetically manipulated EGG or EMBRYO, MAMMALIAN.
The mass or quantity of heaviness of an individual. It is expressed by units of pounds or kilograms.
A genetic process by which the adult organism is realized via mechanisms that lead to the restriction in the possible fates of cells, eventually leading to their differentiated state. Mechanisms involved cause heritable changes to cells without changes to DNA sequence such as DNA METHYLATION; HISTONE modification; DNA REPLICATION TIMING; NUCLEOSOME positioning; and heterochromatization which result in selective gene expression or repression.
Substances that increase the risk of NEOPLASMS in humans or animals. Both genotoxic chemicals, which affect DNA directly, and nongenotoxic chemicals, which induce neoplasms by other mechanism, are included.
A multistage process that includes cloning, physical mapping, subcloning, determination of the DNA SEQUENCE, and information analysis.
The physical activity of a human or an animal as a behavioral phenomenon.
The capacity of a normal organism to remain unaffected by microorganisms and their toxins. It results from the presence of naturally occurring ANTI-INFECTIVE AGENTS, constitutional factors such as BODY TEMPERATURE and immediate acting immune cells such as NATURAL KILLER CELLS.
A clear, colorless liquid rapidly absorbed from the gastrointestinal tract and distributed throughout the body. It has bactericidal activity and is used often as a topical disinfectant. It is widely used as a solvent and preservative in pharmaceutical preparations as well as serving as the primary ingredient in ALCOHOLIC BEVERAGES.
Linear POLYPEPTIDES that are synthesized on RIBOSOMES and may be further modified, crosslinked, cleaved, or assembled into complex proteins with several subunits. The specific sequence of AMINO ACIDS determines the shape the polypeptide will take, during PROTEIN FOLDING, and the function of the protein.
Strains of mice in which certain GENES of their GENOMES have been disrupted, or "knocked-out". To produce knockouts, using RECOMBINANT DNA technology, the normal DNA sequence of the gene being studied is altered to prevent synthesis of a normal gene product. Cloned cells in which this DNA alteration is successful are then injected into mouse EMBRYOS to produce chimeric mice. The chimeric mice are then bred to yield a strain in which all the cells of the mouse contain the disrupted gene. Knockout mice are used as EXPERIMENTAL ANIMAL MODELS for diseases (DISEASE MODELS, ANIMAL) and to clarify the functions of the genes.
Theoretical representations that simulate the behavior or activity of biological processes or diseases. For disease models in living animals, DISEASE MODELS, ANIMAL is available. Biological models include the use of mathematical equations, computers, and other electronic equipment.
I'm sorry for any confusion, but "Utah" is a proper noun and refers to a state in the United States, it does not have a medical definition. If you have any medical questions or need information on specific medical conditions or terms, I would be happy to help!
The gradual irreversible changes in structure and function of an organism that occur as a result of the passage of time.
The term "United States" in a medical context often refers to the country where a patient or study participant resides, and is not a medical term per se, but relevant for epidemiological studies, healthcare policies, and understanding differences in disease prevalence, treatment patterns, and health outcomes across various geographic locations.
The range or frequency distribution of a measurement in a population (of organisms, organs or things) that has not been selected for the presence of disease or abnormality.
Measurable and quantifiable biological parameters (e.g., specific enzyme concentration, specific hormone concentration, specific gene phenotype distribution in a population, presence of biological substances) which serve as indices for health- and physiology-related assessments, such as disease risk, psychiatric disorders, environmental exposure and its effects, disease diagnosis, metabolic processes, substance abuse, pregnancy, cell line development, epidemiologic studies, etc.
Behaviors associated with the ingesting of alcoholic beverages, including social drinking.
The intracellular transfer of information (biological activation/inhibition) through a signal pathway. In each signal transduction system, an activation/inhibition signal from a biologically active molecule (hormone, neurotransmitter) is mediated via the coupling of a receptor/enzyme to a second messenger system or to an ion channel. Signal transduction plays an important role in activating cellular functions, cell differentiation, and cell proliferation. Examples of signal transduction systems are the GAMMA-AMINOBUTYRIC ACID-postsynaptic receptor-calcium ion channel system, the receptor-mediated T-cell activation pathway, and the receptor-mediated activation of phospholipases. Those coupled to membrane depolarization or intracellular release of calcium include the receptor-mediated activation of cytotoxic functions in granulocytes and the synaptic potentiation of protein kinase activation. Some signal transduction pathways may be part of larger signal transduction pathways; for example, protein kinase activation is part of the platelet activation signal pathway.
Transport proteins that carry specific substances in the blood or across cell membranes.
A statistical technique that isolates and assesses the contributions of categorical independent variables to variation in the mean of a continuous dependent variable.
Hybridization of a nucleic acid sample to a very large set of OLIGONUCLEOTIDE PROBES, which have been attached individually in columns and rows to a solid support, to determine a BASE SEQUENCE, or to detect variations in a gene sequence, GENE EXPRESSION, or for GENE MAPPING.
Tumors or cancer of the LUNG.
The processes whereby the internal environment of an organism tends to remain balanced and stable.
A malignant epithelial tumor with a glandular organization.
Non-antibody proteins secreted by inflammatory leukocytes and some non-leukocytic cells, that act as intercellular mediators. They differ from classical hormones in that they are produced by a number of tissue or cell types rather than by specialized glands. They generally act locally in a paracrine or autocrine rather than endocrine manner.
An autosomal recessive inherited disorder characterized by choreoathetosis beginning in childhood, progressive CEREBELLAR ATAXIA; TELANGIECTASIS of CONJUNCTIVA and SKIN; DYSARTHRIA; B- and T-cell immunodeficiency, and RADIOSENSITIVITY to IONIZING RADIATION. Affected individuals are prone to recurrent sinobronchopulmonary infections, lymphoreticular neoplasms, and other malignancies. Serum ALPHA-FETOPROTEINS are usually elevated. (Menkes, Textbook of Child Neurology, 5th ed, p688) The gene for this disorder (ATM) encodes a cell cycle checkpoint protein kinase and has been mapped to chromosome 11 (11q22-q23).
Specialized connective tissue composed of fat cells (ADIPOCYTES). It is the site of stored FATS, usually in the form of TRIGLYCERIDES. In mammals, there are two types of adipose tissue, the WHITE FAT and the BROWN FAT. Their relative distributions vary in different species with most adipose tissue being white.
A large, nuclear protein, encoded by the BRCA2 gene (GENE, BRCA2). Mutations in this gene predispose humans to breast and ovarian cancer. The BRCA2 protein is an essential component of DNA repair pathways, suppressing the formation of gross chromosomal rearrangements. (from Genes Dev. 2000;14(11):1400-6)
A prediction of the probable outcome of a disease based on a individual's condition and the usual course of the disease as seen in similar situations.
PRESSURE of the BLOOD on the ARTERIES and other BLOOD VESSELS.
Pathological conditions involving the CARDIOVASCULAR SYSTEM including the HEART; the BLOOD VESSELS; or the PERICARDIUM.
Predetermined sets of questions used to collect data - clinical data, social status, occupational group, etc. The term is often applied to a self-completed survey instrument.
The reconstruction of a continuous two-stranded DNA molecule without mismatch from a molecule which contained damaged regions. The major repair mechanisms are excision repair, in which defective regions in one strand are excised and resynthesized using the complementary base pairing information in the intact strand; photoreactivation repair, in which the lethal and mutagenic effects of ultraviolet light are eliminated; and post-replication repair, in which the primary lesions are not repaired, but the gaps in one daughter duplex are filled in by incorporation of portions of the other (undamaged) daughter duplex. Excision repair and post-replication repair are sometimes referred to as "dark repair" because they do not require light.
An autosomal recessive syndrome occurring principally in females, characterized by the presence of reticulated, atrophic, hyperpigmented, telangiectatic cutaneous plaques, often accompanied by juvenile cataracts, saddle nose, congenital bone defects, disturbances in the growth of HAIR; NAILS; and TEETH; and HYPOGONADISM.
Persons living in the United States having origins in any of the black groups of Africa.
A polyposis syndrome due to an autosomal dominant mutation of the APC genes (GENES, APC) on CHROMOSOME 5. The syndrome is characterized by the development of hundreds of ADENOMATOUS POLYPS in the COLON and RECTUM of affected individuals by early adulthood.
Serum glycoprotein produced by activated MACROPHAGES and other mammalian MONONUCLEAR LEUKOCYTES. It has necrotizing activity against tumor cell lines and increases ability to reject tumor transplants. Also known as TNF-alpha, it is only 30% homologous to TNF-beta (LYMPHOTOXIN), but they share TNF RECEPTORS.
Procedures for finding the mathematical function which best describes the relationship between a dependent variable and one or more independent variables. In linear regression (see LINEAR MODELS) the relationship is constrained to be a straight line and LEAST-SQUARES ANALYSIS is used to determine the best fit. In logistic regression (see LOGISTIC MODELS) the dependent variable is qualitative rather than continuously variable and LIKELIHOOD FUNCTIONS are used to find the best relationship. In multiple regression, the dependent variable is considered to depend on more than a single independent variable.
RNA sequences that serve as templates for protein synthesis. Bacterial mRNAs are generally primary transcripts in that they do not require post-transcriptional processing. Eukaryotic mRNA is synthesized in the nucleus and must be exported to the cytoplasm for translation. Most eukaryotic mRNAs have a sequence of polyadenylic acid at the 3' end, referred to as the poly(A) tail. The function of this tail is not known for certain, but it may play a role in the export of mature mRNA from the nucleus as well as in helping stabilize some mRNA molecules by retarding their degradation in the cytoplasm.
A group of autosomal-dominant inherited diseases in which COLON CANCER arises in discrete adenomas. Unlike FAMILIAL POLYPOSIS COLI with hundreds of polyps, hereditary nonpolyposis colorectal neoplasms occur much later, in the fourth and fifth decades. HNPCC has been associated with germline mutations in mismatch repair (MMR) genes. It has been subdivided into Lynch syndrome I or site-specific colonic cancer, and LYNCH SYNDROME II which includes extracolonic cancer.
Levels within a diagnostic group which are established by various measurement criteria applied to the seriousness of a patient's disorder.
Studies used to test etiologic hypotheses in which inferences about an exposure to putative causal factors are derived from data relating to characteristics of persons under study or to events or experiences in their past. The essential feature is that some of the persons under study have the disease or outcome of interest and their characteristics are compared with those of unaffected persons.
Diminished effectiveness of INSULIN in lowering blood sugar levels: requiring the use of 200 units or more of insulin per day to prevent HYPERGLYCEMIA or KETOSIS.
Any of the processes by which nuclear, cytoplasmic, or intercellular factors influence the differential control (induction or repression) of gene action at the level of transcription or translation.
Inbred BALB/c mice are a strain of laboratory mice that have been selectively bred to be genetically identical to each other, making them useful for scientific research and experiments due to their consistent genetic background and predictable responses to various stimuli or treatments.
A form of bronchial disorder with three distinct components: airway hyper-responsiveness (RESPIRATORY HYPERSENSITIVITY), airway INFLAMMATION, and intermittent AIRWAY OBSTRUCTION. It is characterized by spasmodic contraction of airway smooth muscle, WHEEZING, and dyspnea (DYSPNEA, PAROXYSMAL).
A hereditary disease caused by autosomal dominant mutations involving CHROMOSOME 19. It is characterized by the presence of INTESTINAL POLYPS, consistently in the JEJUNUM, and mucocutaneous pigmentation with MELANIN spots of the lips, buccal MUCOSA, and digits.
Non-invasive method of demonstrating internal anatomy based on the principle that atomic nuclei in a strong magnetic field absorb pulses of radiofrequency energy and emit them as radiowaves which can be reconstructed into computerized images. The concept includes proton spin tomographic techniques.
Lining of the INTESTINES, consisting of an inner EPITHELIUM, a middle LAMINA PROPRIA, and an outer MUSCULARIS MUCOSAE. In the SMALL INTESTINE, the mucosa is characterized by a series of folds and abundance of absorptive cells (ENTEROCYTES) with MICROVILLI.
The phenotypic manifestation of a gene or genes by the processes of GENETIC TRANSCRIPTION and GENETIC TRANSLATION.
The systems and processes involved in the establishment, support, management, and operation of registers, e.g., disease registers.
Studies in which individuals or populations are followed to assess the outcome of exposures, procedures, or effects of a characteristic, e.g., occurrence of disease.
The phosphoprotein encoded by the BRCA1 gene (GENE, BRCA1). In normal cells the BRCA1 protein is localized in the nucleus, whereas in the majority of breast cancer cell lines and in malignant pleural effusions from breast cancer patients, it is localized mainly in the cytoplasm. (Science 1995;270(5237):713,789-91)
Studies in which variables relating to an individual or group of individuals are assessed over a period of time.
A 51-amino acid pancreatic hormone that plays a major role in the regulation of glucose metabolism, directly by suppressing endogenous glucose production (GLYCOGENOLYSIS; GLUCONEOGENESIS) and indirectly by suppressing GLUCAGON secretion and LIPOLYSIS. Native insulin is a globular protein comprised of a zinc-coordinated hexamer. Each insulin monomer containing two chains, A (21 residues) and B (30 residues), linked by two disulfide bonds. Insulin is used as a drug to control insulin-dependent diabetes mellitus (DIABETES MELLITUS, TYPE 1).
A tumor suppressor gene (GENES, TUMOR SUPPRESSOR) located on human chromosome 13 at locus 13q12.3. Mutations in this gene predispose humans to breast and ovarian cancer. It encodes a large, nuclear protein that is an essential component of DNA repair pathways, suppressing the formation of gross chromosomal rearrangements. (from Genes Dev 2000;14(11):1400-6)
Glucose in blood.
A chromosome instability syndrome resulting from a defective response to DNA double-strand breaks. In addition to characteristic FACIES and MICROCEPHALY, patients have a range of findings including RADIOSENSITIVITY, immunodeficiency, increased cancer risk, and growth retardation. Causative mutations occur in the NBS1 gene, located on human chromosome 8q21. NBS1 codes for nibrin, the key regulator protein of the R/M/N (RAD50/MRE11/NBS1) protein complex which senses and mediates cellular response to DNA DAMAGE caused by IONIZING RADIATION.
A diverse group of proteins whose genetic MUTATIONS have been associated with the chromosomal instability syndrome FANCONI ANEMIA. Many of these proteins play important roles in protecting CELLS against OXIDATIVE STRESS.
Proteins that are normally involved in holding cellular growth in check. Deficiencies or abnormalities in these proteins may lead to unregulated cell growth and tumor development.
A group of disorders characterized by an autosomal dominant pattern of inheritance with high rates of spontaneous mutation and multiple neurofibromas or neurilemmomas. NEUROFIBROMATOSIS 1 (generalized neurofibromatosis) accounts for approximately 95% of cases, although multiple additional subtypes (e.g., NEUROFIBROMATOSIS 2, neurofibromatosis 3, etc.) have been described. (From Neurochirurgie 1998 Nov;44(4):267-72)
An autosomal recessive disorder that causes premature aging in adults, characterized by sclerodermal skin changes, cataracts, subcutaneous calcification, muscular atrophy, a tendency to diabetes mellitus, aged appearance of the face, baldness, and a high incidence of neoplastic disease.
Hereditary disorder consisting of multiple basal cell carcinomas, odontogenic keratocysts, and multiple skeletal defects, e.g., frontal and temporoparietal bossing, bifurcated and splayed ribs, kyphoscoliosis, fusion of vertebrae, and cervicothoracic spina bifida. Genetic transmission is autosomal dominant.
Proteins that catalyze the unwinding of duplex DNA during replication by binding cooperatively to single-stranded regions of DNA or to short regions of duplex DNA that are undergoing transient opening. In addition DNA helicases are DNA-dependent ATPases that harness the free energy of ATP hydrolysis to translocate DNA strands.
MutS homolog 2 protein is found throughout eukaryotes and is a homolog of the MUTS DNA MISMATCH-BINDING PROTEIN. It plays an essential role in meiotic RECOMBINATION and DNA REPAIR of mismatched NUCLEOTIDES.
A group of PROTEIN-SERINE-THREONINE KINASES which activate critical signaling cascades in double strand breaks, APOPTOSIS, and GENOTOXIC STRESS such as ionizing ultraviolet A light, thereby acting as a DNA damage sensor. These proteins play a role in a wide range of signaling mechanisms in cell cycle control.
A syndrome of multiple defects characterized primarily by umbilical hernia (HERNIA, UMBILICAL); MACROGLOSSIA; and GIGANTISM; and secondarily by visceromegaly; HYPOGLYCEMIA; and ear abnormalities.
HLA-DR antigen subtypes that have been classified according to their affinity to specific ANTIBODIES. The DNA sequence analyses of HLA-DR ALPHA-CHAINS and HLA-DR BETA-CHAINS has for the most part revealed the specific alleles that are responsible for each serological subtype.
An autosomal dominant inherited disorder (with a high frequency of spontaneous mutations) that features developmental changes in the nervous system, muscles, bones, and skin, most notably in tissue derived from the embryonic NEURAL CREST. Multiple hyperpigmented skin lesions and subcutaneous tumors are the hallmark of this disease. Peripheral and central nervous system neoplasms occur frequently, especially OPTIC NERVE GLIOMA and NEUROFIBROSARCOMA. NF1 is caused by mutations which inactivate the NF1 gene (GENES, NEUROFIBROMATOSIS 1) on chromosome 17q. The incidence of learning disabilities is also elevated in this condition. (From Adams et al., Principles of Neurology, 6th ed, pp1014-18) There is overlap of clinical features with NOONAN SYNDROME in a syndrome called neurofibromatosis-Noonan syndrome. Both the PTPN11 and NF1 gene products are involved in the SIGNAL TRANSDUCTION pathway of Ras (RAS PROTEINS).

Phenotype of mice and macrophages deficient in both phagocyte oxidase and inducible nitric oxide synthase. (1/27100)

The two genetically established antimicrobial mechanisms of macrophages are production of reactive oxygen intermediates by phagocyte oxidase (phox) and reactive nitrogen intermediates by inducible nitric oxide synthase (NOS2). Mice doubly deficient in both enzymes (gp91(phox-/-)/NOS2(-/-)) formed massive abscesses containing commensal organisms, mostly enteric bacteria, even when reared under specific pathogen-free conditions with antibiotics. Neither parental strain showed such infections. Thus, phox and NOS2 appear to compensate for each other's deficiency in providing resistance to indigenous bacteria, and no other pathway does so fully. Macrophages from gp91(phox-/-)/NOS2(-/-) mice could not kill virulent Listeria. Their killing of S. typhimurium, E. coli, and attenuated Listeria was markedly diminished but demonstrable, establishing the existence of a mechanism of macrophage antibacterial activity independent of phox and NOS2.  (+info)

Enhanced Th1 activity and development of chronic enterocolitis in mice devoid of Stat3 in macrophages and neutrophils. (2/27100)

We have generated mice with a cell type-specific disruption of the Stat3 gene in macrophages and neutrophils. The mutant mice are highly susceptible to endotoxin shock with increased production of inflammatory cytokines such as TNF alpha, IL-1, IFN gamma, and IL-6. Endotoxin-induced production of inflammatory cytokines is augmented because the suppressive effects of IL-10 on inflammatory cytokine production from macrophages and neutrophils are completely abolished. The mice show a polarized immune response toward the Th1 type and develop chronic enterocolitis with age. Taken together, Stat3 plays a critical role in deactivation of macrophages and neutrophils mainly exerted by IL-10.  (+info)

Constitutional genetic variation at the human aromatase gene (Cyp19) and breast cancer risk. (3/27100)

The activity of the aromatase enzyme, which converts androgens into oestrogens and has a major role in regulating oestrogen levels in the breast, is thought to be a contributing factor in the development of breast cancer. We undertook this study to assess the role of constitutional genetic variation in the human aromatase gene (Cyp19) in the development of this disease. Our genotyping of 348 cases with breast cancer and 145 controls (all Caucasian women) for a published tetranucleotide repeat polymorphism at intron 4 of the Cyp19 gene revealed the presence of six common and two rare alleles. Contingency table analysis revealed a significant difference in allelic distribution between cases and controls (chi2 5df = 13.52, P = 0.019). The allele measuring 171 bp was over-represented in cases; of 14 individuals homozygous for this allele, 13 were cases. These individuals had a higher incidence of cancer in family members and an earlier age at diagnosis than other cases. In sequencing Cyp19's coding exons and regulatory regions, we discovered a perfect association between a silent polymorphism (G-->A at Val80) and the high-risk genotype. Our conclusion is that constitutional genetic variation at the Cyp19 locus is associated with the risk of developing breast cancer, with the 171-bp allele serving as the high-risk allele.  (+info)

The impact of genetic counselling about breast cancer risk on women's risk perceptions and levels of distress. (4/27100)

Women referred to a familial breast cancer clinic completed questionnaires before and after counselling and at annual follow-up to assess their risk estimate and psychological characteristics. The aims were to determine whether those who attended the clinic overestimated their risk or were highly anxious and whether counselling influenced risk estimates and levels of distress. Women (n = 450) at this clinic were more likely to underestimate (39%) than overestimate (14%) their risk. Mean trait anxiety scores were higher than general population data (t = 4.9, n = 1059, P<0.001) but not significantly different from published data from other screening samples. Overestimators (z = 5.69, P<0.0001) and underestimators (z = -8.01, P<0.0001) reported significantly different risk estimates (i.e. increased accuracy) after counselling, but significant inaccuracies persisted. Over- (n = 12) and underestimators (n = 60) were still inaccurate in their risk estimates by a factor of 2 after counselling. Thirty per cent of the sample scored above the cut-off (5/6) for case identification on a screening measure for psychological distress, the General Health Questionnaire (GHQ). GHQ scores were significantly lower after counselling (t = 3.6, d.f. = 384, P = 0.0004) with no evidence of increasing risk estimate causing increased distress. The risk of distress after counselling was greater for younger women and those who were more distressed at first presentation. The counselling offered was effective in increasing the accuracy of risk perceptions without causing distress to those who initially underestimated their risk. It is worrying that inaccuracies persisted, particularly as the demand for service has since reduced the consultation time offered in this clinic. Further work is needed to evaluate alternative models of service delivery using more sophisticated methods of assessing understanding of risk.  (+info)

Cancer risk in close relatives of women with early-onset breast cancer--a population-based incidence study. (5/27100)

Inherited susceptibility to breast cancer is associated with an early onset and bilateral disease. The extent of familial risks has not, however, been fully assessed in population-based incidence studies. The purpose of the study was to quantify the risks for cancers of the breast, ovary and other sites of close relatives of women in whom breast cancer was diagnosed at an early age. Records collected between 1943 and 1990 at the Danish Cancer Registry were searched, and 2860 women were found in whom breast cancer was diagnosed before age 40. Population registers and parish records were used to identify 14 973 parents, siblings and offspring of these women. Cancer occurrence through to 31 December 1993 was determined within the Cancer Registry's files and compared with national incidence rates. Women with early-onset breast cancer were at a nearly fourfold increased risk of developing a new cancer later in life (268 observed vs. 68.9 expected). The excess risk was most evident for second cancer of the breast (181 vs. 24.5) and for ovarian cancer (20 vs. 3.3). For mothers and sisters, risks for cancers of the breast and ovary were significantly increased by two- to threefold. Bilateral breast cancer and breast-ovarian cancer were very strong predictors of familial risks, with one in four female relatives predicted to develop breast and/or ovarian cancer by age 75. Mothers had a slightly increased risk of colon cancer, but not endometrial cancer. The risk for breast cancer was also increased among fathers (standardized incidence ratio 2.5; 95% CI 0.5-7.4) and especially brothers (29; 7.7-74), although based on small numbers. The risk for prostatic cancer was unremarkable. In this large population-based survey, the first-degree relatives of women who developed breast cancer before age 40 were prone to ovarian cancer as well as male and female breast cancer, but not other tumours that may share susceptibility genes with breast cancer.  (+info)

Susceptibility to childhood acute lymphoblastic leukemia: influence of CYP1A1, CYP2D6, GSTM1, and GSTT1 genetic polymorphisms. (6/27100)

Although acute lymphoblastic leukemia (ALL) is the most common childhood cancer, factors governing susceptibility to this disease have not yet been identified. As such, ALL offers a useful opportunity to examine the glutathione S-transferase and cytochrome P450 genes in determining susceptibility to pediatric cancers. Both enzymes are involved in carcinogen metabolism and have been shown to influence the risk a variety of solid tumors in adults. To determine whether these genes played a similar role in childhood leukemogenesis, we compared the allele frequencies of 177 childhood ALL patients and 304 controls for the CYP1A1, CYP2D6, GSTM1, and GSTT1 genes. We chose the French population of Quebec as our study population because of its relative genetic homogeneity. The GSTM1 null and CYP1A1*2A genotypes were both found to be significant predictors of ALL risk (odds ratio [OR] = 1.8). Those possessing both genotypes were at an even greater risk of developing the disease (OR = 3.3). None of the other alleles tested for proved to be significant indicators of ALL risk. Unexpectedly, girls carrying the CYP1A1*4 were significantly underrepresented in the ALL group (OR = 0.2), suggesting that a gender-specific protective role exists for this allele. These results suggest that the risk of ALL may indeed be associated with xenobiotics-metabolism, and thus with environmental exposures. Our findings may also explain, in part, why ALL is more prevalent among males than females.  (+info)

Cytochrome P450 CYP1B1 determines susceptibility to 7, 12-dimethylbenz[a]anthracene-induced lymphomas. (7/27100)

CYP1B1-null mice, created by targeted gene disruption in embryonic stem cells, were born at the expected frequency from heterozygous matings with no observable phenotype, thus establishing that CYP1B1 is not required for mouse development. CYP1B1 was not detectable in cultured embryonic fibroblast (EF) or in different tissues, such as lung, of the CYP1B1-null mouse treated with the aryl hydrocarbon receptor agonist 2,3,7,8-tetrachlorodibenzo-p-dioxin whereas the equivalent wild-type EF cells express basal and substantial inducible CYP1B1 and lung expresses inducible CYP1B1. CYP1A1 is induced to far higher levels than CYP1B1 in liver, kidney, and lung in wild-type mice and is induced to a similar extent in CYP1B1-null mice. 7,12-dimethylbenz[a]anthracene (DMBA) was toxic in wild-type EFs that express CYP1B1 but not CYP1A1. These cells effectively metabolized DMBA, consistent with CYP1B1 involvement in producing the procarcinogenic 3,4-dihydrodiol as a major metabolite, whereas CYP1B1-null EF showed no significant metabolism and were resistant to DMBA-mediated toxicity. When wild-type mice were administered high levels of DMBA intragastrically, 70% developed highly malignant lymphomas whereas only 7.5% of CYP1B1-null mice had lymphomas. Skin hyperplasia and tumors were also more frequent in wild-type mice. These results establish that CYP1B1, located exclusively at extrahepatic sites, mediates the carcinogenicity of DMBA. Surprisingly, CYP1A1, which has a high rate of DMBA metabolism in vitro, is not sufficient for this carcinogenesis, which demonstrates the importance of extrahepatic P450s in determining susceptibility to chemical carcinogens and validates the search for associations between P450 expression and cancer risk in humans.  (+info)

Type 2 diabetes: evidence for linkage on chromosome 20 in 716 Finnish affected sib pairs. (8/27100)

We are conducting a genome scan at an average resolution of 10 centimorgans (cM) for type 2 diabetes susceptibility genes in 716 affected sib pairs from 477 Finnish families. To date, our best evidence for linkage is on chromosome 20 with potentially separable peaks located on both the long and short arms. The unweighted multipoint maximum logarithm of odds score (MLS) was 3.08 on 20p (location, chi = 19.5 cM) under an additive model, whereas the weighted MLS was 2.06 on 20q (chi = 57 cM, recurrence risk,lambda(s) = 1. 25, P = 0.009). Weighted logarithm of odds scores of 2.00 (chi = 69.5 cM, P = 0.010) and 1.92 (chi = 18.5 cM, P = 0.013) were also observed. Ordered subset analyses based on sibships with extreme mean values of diabetes-related quantitative traits yielded sets of families who contributed disproportionately to the peaks. Two-hour glucose levels in offspring of diabetic individuals gave a MLS of 2. 12 (P = 0.0018) at 9.5 cM. Evidence from this and other studies suggests at least two diabetes-susceptibility genes on chromosome 20. We have also screened the gene for maturity-onset diabetes of the young 1, hepatic nuclear factor 4-a (HNF-4alpha) in 64 affected sibships with evidence for high chromosomal sharing at its location on chromosome 20q. We found no evidence that sequence changes in this gene accounted for the linkage results we observed.  (+info)

Genetic predisposition to disease refers to an increased susceptibility or vulnerability to develop a particular illness or condition due to inheriting specific genetic variations or mutations from one's parents. These genetic factors can make it more likely for an individual to develop a certain disease, but it does not guarantee that the person will definitely get the disease. Environmental factors, lifestyle choices, and interactions between genes also play crucial roles in determining if a genetically predisposed person will actually develop the disease. It is essential to understand that having a genetic predisposition only implies a higher risk, not an inevitable outcome.

Genotype, in genetics, refers to the complete heritable genetic makeup of an individual organism, including all of its genes. It is the set of instructions contained in an organism's DNA for the development and function of that organism. The genotype is the basis for an individual's inherited traits, and it can be contrasted with an individual's phenotype, which refers to the observable physical or biochemical characteristics of an organism that result from the expression of its genes in combination with environmental influences.

It is important to note that an individual's genotype is not necessarily identical to their genetic sequence. Some genes have multiple forms called alleles, and an individual may inherit different alleles for a given gene from each parent. The combination of alleles that an individual inherits for a particular gene is known as their genotype for that gene.

Understanding an individual's genotype can provide important information about their susceptibility to certain diseases, their response to drugs and other treatments, and their risk of passing on inherited genetic disorders to their offspring.

Genetic polymorphism refers to the occurrence of multiple forms (called alleles) of a particular gene within a population. These variations in the DNA sequence do not generally affect the function or survival of the organism, but they can contribute to differences in traits among individuals. Genetic polymorphisms can be caused by single nucleotide changes (SNPs), insertions or deletions of DNA segments, or other types of genetic rearrangements. They are important for understanding genetic diversity and evolution, as well as for identifying genetic factors that may contribute to disease susceptibility in humans.

An allele is a variant form of a gene that is located at a specific position on a specific chromosome. Alleles are alternative forms of the same gene that arise by mutation and are found at the same locus or position on homologous chromosomes.

Each person typically inherits two copies of each gene, one from each parent. If the two alleles are identical, a person is said to be homozygous for that trait. If the alleles are different, the person is heterozygous.

For example, the ABO blood group system has three alleles, A, B, and O, which determine a person's blood type. If a person inherits two A alleles, they will have type A blood; if they inherit one A and one B allele, they will have type AB blood; if they inherit two B alleles, they will have type B blood; and if they inherit two O alleles, they will have type O blood.

Alleles can also influence traits such as eye color, hair color, height, and other physical characteristics. Some alleles are dominant, meaning that only one copy of the allele is needed to express the trait, while others are recessive, meaning that two copies of the allele are needed to express the trait.

Single Nucleotide Polymorphism (SNP) is a type of genetic variation that occurs when a single nucleotide (A, T, C, or G) in the DNA sequence is altered. This alteration must occur in at least 1% of the population to be considered a SNP. These variations can help explain why some people are more susceptible to certain diseases than others and can also influence how an individual responds to certain medications. SNPs can serve as biological markers, helping scientists locate genes that are associated with disease. They can also provide information about an individual's ancestry and ethnic background.

I must clarify that the term "pedigree" is not typically used in medical definitions. Instead, it is often employed in genetics and breeding, where it refers to the recorded ancestry of an individual or a family, tracing the inheritance of specific traits or diseases. In human genetics, a pedigree can help illustrate the pattern of genetic inheritance in families over multiple generations. However, it is not a medical term with a specific clinical definition.

A germ-line mutation is a genetic change that occurs in the egg or sperm cells (gametes), and thus can be passed down from parents to their offspring. These mutations are present throughout the entire body of the offspring, as they are incorporated into the DNA of every cell during embryonic development.

Germ-line mutations differ from somatic mutations, which occur in other cells of the body that are not involved in reproduction. While somatic mutations can contribute to the development of cancer and other diseases within an individual, they are not passed down to future generations.

It's important to note that germ-line mutations can have significant implications for medical genetics and inherited diseases. For example, if a parent has a germ-line mutation in a gene associated with a particular disease, their offspring may have an increased risk of developing that disease as well.

Gene frequency, also known as allele frequency, is a measure in population genetics that reflects the proportion of a particular gene or allele (variant of a gene) in a given population. It is calculated as the number of copies of a specific allele divided by the total number of all alleles at that genetic locus in the population.

For example, if we consider a gene with two possible alleles, A and a, the gene frequency of allele A (denoted as p) can be calculated as follows:

p = (number of copies of allele A) / (total number of all alleles at that locus)

Similarly, the gene frequency of allele a (denoted as q) would be:

q = (number of copies of allele a) / (total number of all alleles at that locus)

Since there are only two possible alleles for this gene in this example, p + q = 1. These frequencies can help researchers understand genetic diversity and evolutionary processes within populations.

A case-control study is an observational research design used to identify risk factors or causes of a disease or health outcome. In this type of study, individuals with the disease or condition (cases) are compared with similar individuals who do not have the disease or condition (controls). The exposure history or other characteristics of interest are then compared between the two groups to determine if there is an association between the exposure and the disease.

Case-control studies are often used when it is not feasible or ethical to conduct a randomized controlled trial, as they can provide valuable insights into potential causes of diseases or health outcomes in a relatively short period of time and at a lower cost than other study designs. However, because case-control studies rely on retrospective data collection, they are subject to biases such as recall bias and selection bias, which can affect the validity of the results. Therefore, it is important to carefully design and conduct case-control studies to minimize these potential sources of bias.

Medical Definition:

"Risk factors" are any attribute, characteristic or exposure of an individual that increases the likelihood of developing a disease or injury. They can be divided into modifiable and non-modifiable risk factors. Modifiable risk factors are those that can be changed through lifestyle choices or medical treatment, while non-modifiable risk factors are inherent traits such as age, gender, or genetic predisposition. Examples of modifiable risk factors include smoking, alcohol consumption, physical inactivity, and unhealthy diet, while non-modifiable risk factors include age, sex, and family history. It is important to note that having a risk factor does not guarantee that a person will develop the disease, but rather indicates an increased susceptibility.

Disease susceptibility, also known as genetic predisposition or genetic susceptibility, refers to the increased likelihood or risk of developing a particular disease due to inheriting specific genetic variations or mutations. These genetic factors can make an individual more vulnerable to certain diseases compared to those who do not have these genetic changes.

It is important to note that having a genetic predisposition does not guarantee that a person will definitely develop the disease. Other factors, such as environmental exposures, lifestyle choices, and additional genetic variations, can influence whether or not the disease will manifest. In some cases, early detection and intervention may help reduce the risk or delay the onset of the disease in individuals with a known genetic susceptibility.

Genetic testing is a type of medical test that identifies changes in chromosomes, genes, or proteins. The results of a genetic test can confirm or rule out a suspected genetic condition or help determine a person's chance of developing or passing on a genetic disorder. Genetic tests are performed on a sample of blood, hair, skin, amniotic fluid (the fluid that surrounds a fetus during pregnancy), or other tissue. For example, a physician may recommend genetic testing to help diagnose a genetic condition, confirm the presence of a gene mutation known to increase the risk of developing certain cancers, or determine the chance for a couple to have a child with a genetic disorder.

There are several types of genetic tests, including:

* Diagnostic testing: This type of test is used to identify or confirm a suspected genetic condition in an individual. It may be performed before birth (prenatal testing) or at any time during a person's life.
* Predictive testing: This type of test is used to determine the likelihood that a person will develop a genetic disorder. It is typically offered to individuals who have a family history of a genetic condition but do not show any symptoms themselves.
* Carrier testing: This type of test is used to determine whether a person carries a gene mutation for a genetic disorder. It is often offered to couples who are planning to have children and have a family history of a genetic condition or belong to a population that has an increased risk of certain genetic disorders.
* Preimplantation genetic testing: This type of test is used in conjunction with in vitro fertilization (IVF) to identify genetic changes in embryos before they are implanted in the uterus. It can help couples who have a family history of a genetic disorder or who are at risk of having a child with a genetic condition to conceive a child who is free of the genetic change in question.
* Pharmacogenetic testing: This type of test is used to determine how an individual's genes may affect their response to certain medications. It can help healthcare providers choose the most effective medication and dosage for a patient, reducing the risk of adverse drug reactions.

It is important to note that genetic testing should be performed under the guidance of a qualified healthcare professional who can interpret the results and provide appropriate counseling and support.

A phenotype is the physical or biochemical expression of an organism's genes, or the observable traits and characteristics resulting from the interaction of its genetic constitution (genotype) with environmental factors. These characteristics can include appearance, development, behavior, and resistance to disease, among others. Phenotypes can vary widely, even among individuals with identical genotypes, due to differences in environmental influences, gene expression, and genetic interactions.

A haplotype is a group of genes or DNA sequences that are inherited together from a single parent. It refers to a combination of alleles (variant forms of a gene) that are located on the same chromosome and are usually transmitted as a unit. Haplotypes can be useful in tracing genetic ancestry, understanding the genetic basis of diseases, and developing personalized medical treatments.

In population genetics, haplotypes are often used to study patterns of genetic variation within and between populations. By comparing haplotype frequencies across populations, researchers can infer historical events such as migrations, population expansions, and bottlenecks. Additionally, haplotypes can provide information about the evolutionary history of genes and genomic regions.

In clinical genetics, haplotypes can be used to identify genetic risk factors for diseases or to predict an individual's response to certain medications. For example, specific haplotypes in the HLA gene region have been associated with increased susceptibility to certain autoimmune diseases, while other haplotypes in the CYP450 gene family can affect how individuals metabolize drugs.

Overall, haplotypes provide a powerful tool for understanding the genetic basis of complex traits and diseases, as well as for developing personalized medical treatments based on an individual's genetic makeup.

Genetic markers are specific segments of DNA that are used in genetic mapping and genotyping to identify specific genetic locations, diseases, or traits. They can be composed of short tandem repeats (STRs), single nucleotide polymorphisms (SNPs), restriction fragment length polymorphisms (RFLPs), or variable number tandem repeats (VNTRs). These markers are useful in various fields such as genetic research, medical diagnostics, forensic science, and breeding programs. They can help to track inheritance patterns, identify genetic predispositions to diseases, and solve crimes by linking biological evidence to suspects or victims.

"Family Health" is not a term that has a single, widely accepted medical definition. However, in the context of healthcare and public health, "family health" often refers to the physical, mental, and social well-being of all members of a family unit. It includes the assessment, promotion, and prevention of health conditions that affect individual family members as well as the family as a whole.

Family health may also encompass interventions and programs that aim to strengthen family relationships, communication, and functioning, as these factors can have a significant impact on overall health outcomes. Additionally, family health may involve addressing social determinants of health, such as poverty, housing, and access to healthcare, which can affect the health of families and communities.

Overall, family health is a holistic approach to healthcare that recognizes the importance of considering the needs and experiences of all family members in promoting and maintaining good health.

Genetic linkage is the phenomenon where two or more genetic loci (locations on a chromosome) tend to be inherited together because they are close to each other on the same chromosome. This occurs during the process of sexual reproduction, where homologous chromosomes pair up and exchange genetic material through a process called crossing over.

The closer two loci are to each other on a chromosome, the lower the probability that they will be separated by a crossover event. As a result, they are more likely to be inherited together and are said to be linked. The degree of linkage between two loci can be measured by their recombination frequency, which is the percentage of meiotic events in which a crossover occurs between them.

Linkage analysis is an important tool in genetic research, as it allows researchers to identify and map genes that are associated with specific traits or diseases. By analyzing patterns of linkage between markers (identifiable DNA sequences) and phenotypes (observable traits), researchers can infer the location of genes that contribute to those traits or diseases on chromosomes.

A mutation is a permanent change in the DNA sequence of an organism's genome. Mutations can occur spontaneously or be caused by environmental factors such as exposure to radiation, chemicals, or viruses. They may have various effects on the organism, ranging from benign to harmful, depending on where they occur and whether they alter the function of essential proteins. In some cases, mutations can increase an individual's susceptibility to certain diseases or disorders, while in others, they may confer a survival advantage. Mutations are the driving force behind evolution, as they introduce new genetic variability into populations, which can then be acted upon by natural selection.

Hereditary neoplastic syndromes refer to genetic disorders that predispose affected individuals to develop tumors or cancers. These syndromes are caused by inherited mutations in specific genes that regulate cell growth and division. As a result, cells may divide and grow uncontrollably, leading to the formation of benign or malignant tumors.

Examples of hereditary neoplastic syndromes include:

1. Hereditary breast and ovarian cancer syndrome (HBOC): This syndrome is caused by mutations in the BRCA1 or BRCA2 genes, which increase the risk of developing breast, ovarian, and other cancers.
2. Lynch syndrome: Also known as hereditary non-polyposis colorectal cancer (HNPCC), this syndrome is caused by mutations in DNA mismatch repair genes, leading to an increased risk of colon, endometrial, and other cancers.
3. Li-Fraumeni syndrome: This syndrome is caused by mutations in the TP53 gene, which increases the risk of developing a wide range of cancers, including breast, brain, and soft tissue sarcomas.
4. Familial adenomatous polyposis (FAP): This syndrome is caused by mutations in the APC gene, leading to the development of numerous colon polyps that can become cancerous if not removed.
5. Neurofibromatosis type 1 (NF1): This syndrome is caused by mutations in the NF1 gene and is characterized by the development of benign tumors called neurofibromas on the nerves and skin.
6. Von Hippel-Lindau disease (VHL): This syndrome is caused by mutations in the VHL gene, leading to an increased risk of developing various types of tumors, including kidney, pancreas, and adrenal gland tumors.

Individuals with hereditary neoplastic syndromes often have a higher risk of developing cancer than the general population, and they may require more frequent screening and surveillance to detect cancers at an early stage when they are more treatable.

Gene-Environment Interaction (GEI) is a concept in genetics that refers to the way in which genetic variations and environmental factors interact to influence traits or disease susceptibility. It describes a situation where the effect of an environmental exposure on a particular trait or disease outcome is dependent on the genetic makeup of the individual, and vice versa.

In other words, GEI suggests that the impact of environmental factors on health outcomes may be different depending on a person's genetic background, and similarly, the influence of certain genes on health outcomes may depend on the presence or absence of specific environmental exposures. This interaction can help explain why some individuals are more susceptible to certain diseases or traits than others, even when exposed to similar environments.

GEI is an important concept in precision medicine, as understanding these interactions can help identify individuals who are at higher risk for certain diseases and develop targeted prevention and treatment strategies based on their genetic and environmental profiles.

Pelvimetry is a medical measurement and evaluation of the size and shape of the pelvis, which can be performed in several ways:

1. Clinical pelvimetry: This involves physical examination to assess the dimensions of the pelvis by palpation and measurement of the distance between bony landmarks.
2. Radiological pelvimetry: This uses X-ray or CT imaging to obtain more accurate measurements of the pelvic diameters, including the anteroposterior, transverse, and oblique dimensions.
3. Magnetic resonance imaging (MRI) pelvimetry: This method is considered the most accurate for assessing the size and shape of the pelvis, as it provides detailed images without radiation exposure.

Pelvimetry is often used in obstetrics to evaluate whether a woman's pelvis can accommodate a fetus during childbirth (known as "obstetric pelvimetry"). It helps healthcare providers determine if a vaginal delivery is possible or if a cesarean section may be necessary. However, the use of pelvimetry in modern obstetrics has become less common due to its limited predictive value and the increasing focus on individualized birth management.

The "age of onset" is a medical term that refers to the age at which an individual first develops or displays symptoms of a particular disease, disorder, or condition. It can be used to describe various medical conditions, including both physical and mental health disorders. The age of onset can have implications for prognosis, treatment approaches, and potential causes of the condition. In some cases, early onset may indicate a more severe or progressive course of the disease, while late-onset symptoms might be associated with different underlying factors or etiologies. It is essential to provide accurate and precise information regarding the age of onset when discussing a patient's medical history and treatment plan.

Genetic association studies are a type of epidemiological research that aims to identify statistical associations between genetic variations and particular traits or diseases. These studies typically compare the frequency of specific genetic markers, such as single nucleotide polymorphisms (SNPs), in individuals with a given trait or disease to those without it.

The goal of genetic association studies is to identify genetic factors that contribute to the risk of developing common complex diseases, such as diabetes, heart disease, or cancer. By identifying these genetic associations, researchers hope to gain insights into the underlying biological mechanisms of these diseases and develop new strategies for prevention, diagnosis, and treatment.

It's important to note that while genetic association studies can identify statistical associations between genetic markers and traits or diseases, they cannot prove causality. Further research is needed to confirm and validate these findings and to understand the functional consequences of the identified genetic variants.

Heredity, in medical terms, refers to the passing on of genetic characteristics from parents to their offspring through the transmission of genes. These genes carry the information that determines many traits, such as eye color, hair color, height, and certain health conditions. Heredity plays a significant role in understanding the causes of various diseases and disorders, as some are strongly influenced by genetic factors. However, it's important to note that environmental factors can also interact with genetic predispositions to influence the expression of these traits.

Chromosome mapping, also known as physical mapping, is the process of determining the location and order of specific genes or genetic markers on a chromosome. This is typically done by using various laboratory techniques to identify landmarks along the chromosome, such as restriction enzyme cutting sites or patterns of DNA sequence repeats. The resulting map provides important information about the organization and structure of the genome, and can be used for a variety of purposes, including identifying the location of genes associated with genetic diseases, studying evolutionary relationships between organisms, and developing genetic markers for use in breeding or forensic applications.

Animal disease models are specialized animals, typically rodents such as mice or rats, that have been genetically engineered or exposed to certain conditions to develop symptoms and physiological changes similar to those seen in human diseases. These models are used in medical research to study the pathophysiology of diseases, identify potential therapeutic targets, test drug efficacy and safety, and understand disease mechanisms.

The genetic modifications can include knockout or knock-in mutations, transgenic expression of specific genes, or RNA interference techniques. The animals may also be exposed to environmental factors such as chemicals, radiation, or infectious agents to induce the disease state.

Examples of animal disease models include:

1. Mouse models of cancer: Genetically engineered mice that develop various types of tumors, allowing researchers to study cancer initiation, progression, and metastasis.
2. Alzheimer's disease models: Transgenic mice expressing mutant human genes associated with Alzheimer's disease, which exhibit amyloid plaque formation and cognitive decline.
3. Diabetes models: Obese and diabetic mouse strains like the NOD (non-obese diabetic) or db/db mice, used to study the development of type 1 and type 2 diabetes, respectively.
4. Cardiovascular disease models: Atherosclerosis-prone mice, such as ApoE-deficient or LDLR-deficient mice, that develop plaque buildup in their arteries when fed a high-fat diet.
5. Inflammatory bowel disease models: Mice with genetic mutations affecting intestinal barrier function and immune response, such as IL-10 knockout or SAMP1/YitFc mice, which develop colitis.

Animal disease models are essential tools in preclinical research, but it is important to recognize their limitations. Differences between species can affect the translatability of results from animal studies to human patients. Therefore, researchers must carefully consider the choice of model and interpret findings cautiously when applying them to human diseases.

A Genome-Wide Association Study (GWAS) is an analytical approach used in genetic research to identify associations between genetic variants, typically Single Nucleotide Polymorphisms (SNPs), and specific traits or diseases across the entire genome. This method involves scanning the genomes of many individuals, usually thousands, to find genetic markers that occur more frequently in people with a particular disease or trait than in those without it.

The goal of a GWAS is to identify genetic loci (positions on chromosomes) associated with a trait or disease, which can help researchers understand the underlying genetic architecture and biological mechanisms contributing to the condition. It's important to note that while GWAS can identify associations between genetic variants and traits/diseases, these studies do not necessarily prove causation. Further functional validation studies are often required to confirm the role of identified genetic variants in the development or progression of a trait or disease.

HLA-DQ antigens are a type of human leukocyte antigen (HLA) that are found on the surface of cells in our body. They are a part of the major histocompatibility complex (MHC) class II molecules, which play a crucial role in the immune system by presenting pieces of proteins from outside the cell to CD4+ T cells, also known as helper T cells. This presentation process is essential for initiating an appropriate immune response against potentially harmful pathogens such as bacteria and viruses.

HLA-DQ antigens are encoded by genes located on chromosome 6p21.3 in the HLA region. Each individual inherits a pair of HLA-DQ genes, one from each parent, which can result in various combinations of HLA-DQ alleles. These genetic variations contribute to the diversity of immune responses among different individuals.

HLA-DQ antigens consist of two noncovalently associated polypeptide chains: an alpha (DQA) chain and a beta (DQB) chain. There are several isotypes of HLA-DQ antigens, including DQ1, DQ2, DQ3, DQ4, DQ5, DQ6, DQ7, DQ8, and DQ9, which are determined by the specific combination of DQA and DQB alleles.

Certain HLA-DQ genotypes have been associated with an increased risk of developing certain autoimmune diseases, such as celiac disease (DQ2 and DQ8), type 1 diabetes (DQ2, DQ8), and rheumatoid arthritis (DQ4). Understanding the role of HLA-DQ antigens in these conditions can provide valuable insights into disease pathogenesis and potential therapeutic targets.

Monozygotic twins, also known as identical twins, are derived from a single fertilized egg (ovum) that splits and develops into two separate embryos. This results in the formation of genetically identical individuals who share the same genetic material, with the exception of potential mutations that may occur after the split. Monozygotic twins have the same sex, blood type, and other genetic traits. They are a unique pair of siblings, sharing an extraordinary degree of resemblance in physical characteristics, abilities, and behaviors.

The term "family" in a medical context often refers to a group of individuals who are related by blood, marriage, or adoption and who consider themselves to be a single household. This can include spouses, parents, children, siblings, grandparents, and other extended family members. In some cases, the term may also be used more broadly to refer to any close-knit group of people who provide emotional and social support for one another, regardless of their biological or legal relationship.

In healthcare settings, understanding a patient's family dynamics can be important for providing effective care. Family members may be involved in decision-making about medical treatments, providing care and support at home, and communicating with healthcare providers. Additionally, cultural beliefs and values within families can influence health behaviors and attitudes towards medical care, making it essential for healthcare professionals to take a culturally sensitive approach when working with patients and their families.

DNA Mutational Analysis is a laboratory test used to identify genetic variations or changes (mutations) in the DNA sequence of a gene. This type of analysis can be used to diagnose genetic disorders, predict the risk of developing certain diseases, determine the most effective treatment for cancer, or assess the likelihood of passing on an inherited condition to offspring.

The test involves extracting DNA from a patient's sample (such as blood, saliva, or tissue), amplifying specific regions of interest using polymerase chain reaction (PCR), and then sequencing those regions to determine the precise order of nucleotide bases in the DNA molecule. The resulting sequence is then compared to reference sequences to identify any variations or mutations that may be present.

DNA Mutational Analysis can detect a wide range of genetic changes, including single-nucleotide polymorphisms (SNPs), insertions, deletions, duplications, and rearrangements. The test is often used in conjunction with other diagnostic tests and clinical evaluations to provide a comprehensive assessment of a patient's genetic profile.

It is important to note that not all mutations are pathogenic or associated with disease, and the interpretation of DNA Mutational Analysis results requires careful consideration of the patient's medical history, family history, and other relevant factors.

Obesity is a complex disease characterized by an excess accumulation of body fat to the extent that it negatively impacts health. It's typically defined using Body Mass Index (BMI), a measure calculated from a person's weight and height. A BMI of 30 or higher is indicative of obesity. However, it's important to note that while BMI can be a useful tool for identifying obesity in populations, it does not directly measure body fat and may not accurately reflect health status in individuals. Other factors such as waist circumference, blood pressure, cholesterol levels, and blood sugar levels should also be considered when assessing health risks associated with weight.

I'm sorry for any confusion, but "Hungary" is not a medical term or concept. It is a country located in Central Europe, known for its rich history, culture, and natural beauty. If you have any questions about medical topics or definitions, I would be happy to help!

Penetrance, in medical genetics, refers to the proportion of individuals with a particular genetic variant or mutation who exhibit clinical features or symptoms of a resulting disease. It is often expressed as a percentage, with complete penetrance indicating that all individuals with the genetic change will develop the disease, and reduced or incomplete penetrance suggesting that not all individuals with the genetic change will necessarily develop the disease, even if they express some of its characteristics.

Penetrance can vary depending on various factors such as age, sex, environmental influences, and interactions with other genes. Incomplete penetrance is common in many genetic disorders, making it challenging to predict who will develop symptoms based solely on their genotype.

Diabetes Mellitus, Type 2 is a metabolic disorder characterized by high blood glucose (or sugar) levels resulting from the body's inability to produce sufficient amounts of insulin or effectively use the insulin it produces. This form of diabetes usually develops gradually over several years and is often associated with older age, obesity, physical inactivity, family history of diabetes, and certain ethnicities.

In Type 2 diabetes, the body's cells become resistant to insulin, meaning they don't respond properly to the hormone. As a result, the pancreas produces more insulin to help glucose enter the cells. Over time, the pancreas can't keep up with the increased demand, leading to high blood glucose levels and diabetes.

Type 2 diabetes is managed through lifestyle modifications such as weight loss, regular exercise, and a healthy diet. Medications, including insulin therapy, may also be necessary to control blood glucose levels and prevent long-term complications associated with the disease, such as heart disease, nerve damage, kidney damage, and vision loss.

HLA-DQ beta-chains are a type of human leukocyte antigen (HLA) molecule found on the surface of cells in the human body. The HLAs are a group of proteins that play an important role in the immune system by helping the body recognize and respond to foreign substances, such as viruses and bacteria.

The HLA-DQ beta-chains are part of the HLA-DQ complex, which is a heterodimer made up of two polypeptide chains: an alpha chain (HLA-DQ alpha) and a beta chain (HLA-DQ beta). These chains are encoded by genes located on chromosome 6 in the major histocompatibility complex (MHC) region.

The HLA-DQ complex is involved in presenting peptides to CD4+ T cells, which are a type of white blood cell that plays a central role in the immune response. The peptides presented by the HLA-DQ complex are derived from proteins that have been processed within the cell, and they are used to help the CD4+ T cells recognize and respond to infected or abnormal cells.

Variations in the genes that encode the HLA-DQ beta-chains can affect an individual's susceptibility to certain diseases, including autoimmune disorders and infectious diseases.

A genetic locus (plural: loci) is a specific location on a chromosome where a particular gene or DNA sequence is found. It is the precise position where a specific genetic element, such as a gene or marker, is located on a chromsomere. This location is defined in terms of its relationship to other genetic markers and features on the same chromosome. Genetic loci can be used in linkage and association studies to identify the inheritance patterns and potential relationships between genes and various traits or diseases.

Genetic variation refers to the differences in DNA sequences among individuals and populations. These variations can result from mutations, genetic recombination, or gene flow between populations. Genetic variation is essential for evolution by providing the raw material upon which natural selection acts. It can occur within a single gene, between different genes, or at larger scales, such as differences in the number of chromosomes or entire sets of chromosomes. The study of genetic variation is crucial in understanding the genetic basis of diseases and traits, as well as the evolutionary history and relationships among species.

Linkage disequilibrium (LD) is a term used in genetics that refers to the non-random association of alleles at different loci (genetic locations) on a chromosome. This means that certain combinations of genetic variants, or alleles, at different loci occur more frequently together in a population than would be expected by chance.

Linkage disequilibrium can arise due to various factors such as genetic drift, selection, mutation, and population structure. It is often used in the context of genetic mapping studies to identify regions of the genome that are associated with particular traits or diseases. High levels of LD in a region of the genome suggest that the loci within that region are in linkage, meaning they tend to be inherited together.

The degree of LD between two loci can be measured using various statistical methods, such as D' and r-squared. These measures provide information about the strength and direction of the association between alleles at different loci, which can help researchers identify causal genetic variants underlying complex traits or diseases.

The term "European Continental Ancestry Group" is a medical/ethnic classification that refers to individuals who trace their genetic ancestry to the continent of Europe. This group includes people from various ethnic backgrounds and nationalities, such as Northern, Southern, Eastern, and Western European descent. It is often used in research and medical settings for population studies or to identify genetic patterns and predispositions to certain diseases that may be more common in specific ancestral groups. However, it's important to note that this classification can oversimplify the complex genetic diversity within and between populations, and should be used with caution.

BRCA1 (BReast CAncer gene 1) is a tumor suppressor gene that produces a protein involved in repairing damaged DNA and maintaining genetic stability. Mutations in the BRCA1 gene are associated with an increased risk of developing hereditary breast and ovarian cancers. Inherited mutations in this gene account for about 5% of all breast cancers and about 10-15% of ovarian cancers. Women who have a mutation in the BRCA1 gene have a significantly higher risk of developing breast cancer and ovarian cancer compared to women without mutations. The protein produced by the BRCA1 gene also interacts with other proteins to regulate cell growth and division, so its disruption can lead to uncontrolled cell growth and tumor formation.

A heterozygote is an individual who has inherited two different alleles (versions) of a particular gene, one from each parent. This means that the individual's genotype for that gene contains both a dominant and a recessive allele. The dominant allele will be expressed phenotypically (outwardly visible), while the recessive allele may or may not have any effect on the individual's observable traits, depending on the specific gene and its function. Heterozygotes are often represented as 'Aa', where 'A' is the dominant allele and 'a' is the recessive allele.

'Diseases in Twins' is a field of study that focuses on the similarities and differences in the occurrence, development, and outcomes of diseases among twins. This research can provide valuable insights into the genetic and environmental factors that contribute to various medical conditions.

Twins can be classified into two types: monozygotic (identical) and dizygotic (fraternal). Monozygotic twins share 100% of their genes, while dizygotic twins share about 50%, similar to non-twin siblings. By comparing the concordance rates (the likelihood of both twins having the same disease) between monozygotic and dizygotic twins, researchers can estimate the heritability of a particular disease.

Studying diseases in twins also helps understand the role of environmental factors. When both twins develop the same disease, but they are discordant for certain risk factors (e.g., one twin smokes and the other does not), it suggests that the disease may have a stronger genetic component. On the other hand, when both twins share similar risk factors and develop the disease, it implies that environmental factors play a significant role.

Diseases in Twins research has contributed to our understanding of various medical conditions, including infectious diseases, cancer, mental health disorders, and developmental disorders. This knowledge can lead to better prevention strategies, early detection methods, and more targeted treatments for these diseases.

Microsatellite repeats, also known as short tandem repeats (STRs), are repetitive DNA sequences made up of units of 1-6 base pairs that are repeated in a head-to-tail manner. These repeats are spread throughout the human genome and are highly polymorphic, meaning they can have different numbers of repeat units in different individuals.

Microsatellites are useful as genetic markers because of their high degree of variability. They are commonly used in forensic science to identify individuals, in genealogy to trace ancestry, and in medical research to study genetic diseases and disorders. Mutations in microsatellite repeats have been associated with various neurological conditions, including Huntington's disease and fragile X syndrome.

A cohort study is a type of observational study in which a group of individuals who share a common characteristic or exposure are followed up over time to determine the incidence of a specific outcome or outcomes. The cohort, or group, is defined based on the exposure status (e.g., exposed vs. unexposed) and then monitored prospectively to assess for the development of new health events or conditions.

Cohort studies can be either prospective or retrospective in design. In a prospective cohort study, participants are enrolled and followed forward in time from the beginning of the study. In contrast, in a retrospective cohort study, researchers identify a cohort that has already been assembled through medical records, insurance claims, or other sources and then look back in time to assess exposure status and health outcomes.

Cohort studies are useful for establishing causality between an exposure and an outcome because they allow researchers to observe the temporal relationship between the two. They can also provide information on the incidence of a disease or condition in different populations, which can be used to inform public health policy and interventions. However, cohort studies can be expensive and time-consuming to conduct, and they may be subject to bias if participants are not representative of the population or if there is loss to follow-up.

HLA-DRB1 chains are part of the major histocompatibility complex (MHC) class II molecules in the human body. The MHC class II molecules play a crucial role in the immune system by presenting pieces of foreign proteins to CD4+ T cells, which then stimulate an immune response.

HLA-DRB1 chains are one of the two polypeptide chains that make up the HLA-DR heterodimer, the other chain being the HLA-DRA chain. The HLA-DRB1 chain contains specific regions called antigen-binding sites, which bind to and present foreign peptides to CD4+ T cells.

The HLA-DRB1 gene is highly polymorphic, meaning that there are many different variations or alleles of this gene in the human population. These variations can affect an individual's susceptibility or resistance to certain diseases, including autoimmune disorders and infectious diseases. Therefore, the identification and characterization of HLA-DRB1 alleles have important implications for disease diagnosis, treatment, and prevention.

Multiple primary neoplasms refer to the occurrence of more than one primary malignant tumor in an individual, where each tumor is unrelated to the other and originates from separate cells or organs. This differs from metastatic cancer, where a single malignancy spreads to multiple sites in the body. Multiple primary neoplasms can be synchronous (occurring at the same time) or metachronous (occurring at different times). The risk of developing multiple primary neoplasms increases with age and is associated with certain genetic predispositions, environmental factors, and lifestyle choices such as smoking and alcohol consumption.

In the context of medicine, risk is the probability or likelihood of an adverse health effect or the occurrence of a negative event related to treatment or exposure to certain hazards. It is usually expressed as a ratio or percentage and can be influenced by various factors such as age, gender, lifestyle, genetics, and environmental conditions. Risk assessment involves identifying, quantifying, and prioritizing risks to make informed decisions about prevention, mitigation, or treatment strategies.

The term "environment" in a medical context generally refers to the external conditions and surroundings that can have an impact on living organisms, including humans. This includes both physical factors such as air quality, water supply, soil composition, temperature, and radiation, as well as biological factors such as the presence of microorganisms, plants, and animals.

In public health and epidemiology, the term "environmental exposure" is often used to describe the contact between an individual and a potentially harmful environmental agent, such as air pollution or contaminated water. These exposures can have significant impacts on human health, contributing to a range of diseases and disorders, including respiratory illnesses, cancer, neurological disorders, and reproductive problems.

Efforts to protect and improve the environment are therefore critical for promoting human health and preventing disease. This includes measures to reduce pollution, conserve natural resources, promote sustainable development, and mitigate the impacts of climate change.

Neoplasms are abnormal growths of cells or tissues in the body that serve no physiological function. They can be benign (non-cancerous) or malignant (cancerous). Benign neoplasms are typically slow growing and do not spread to other parts of the body, while malignant neoplasms are aggressive, invasive, and can metastasize to distant sites.

Neoplasms occur when there is a dysregulation in the normal process of cell division and differentiation, leading to uncontrolled growth and accumulation of cells. This can result from genetic mutations or other factors such as viral infections, environmental exposures, or hormonal imbalances.

Neoplasms can develop in any organ or tissue of the body and can cause various symptoms depending on their size, location, and type. Treatment options for neoplasms include surgery, radiation therapy, chemotherapy, immunotherapy, and targeted therapy, among others.

Causality is the relationship between a cause and a result, where the cause directly or indirectly brings about the result. In the medical context, causality refers to determining whether an exposure (such as a drug, infection, or environmental factor) is the cause of a specific outcome (such as a disease or adverse event). Establishing causality often involves evaluating epidemiological data, laboratory studies, and clinical evidence using established criteria, such as those proposed by Bradford Hill. It's important to note that determining causality can be complex and challenging, particularly when there are multiple potential causes or confounding factors involved.

The term "Asian Continental Ancestry Group" is a medical/ethnic classification used to describe a person's genetic background and ancestry. According to this categorization, individuals with origins in the Asian continent are grouped together. This includes populations from regions such as East Asia (e.g., China, Japan, Korea), South Asia (e.g., India, Pakistan, Bangladesh), Southeast Asia (e.g., Philippines, Indonesia, Thailand), and Central Asia (e.g., Kazakhstan, Uzbekistan, Tajikistan). It is important to note that this broad categorization may not fully capture the genetic diversity within these regions or accurately reflect an individual's specific ancestral origins.

"Age factors" refer to the effects, changes, or differences that age can have on various aspects of health, disease, and medical care. These factors can encompass a wide range of issues, including:

1. Physiological changes: As people age, their bodies undergo numerous physical changes that can affect how they respond to medications, illnesses, and medical procedures. For example, older adults may be more sensitive to certain drugs or have weaker immune systems, making them more susceptible to infections.
2. Chronic conditions: Age is a significant risk factor for many chronic diseases, such as heart disease, diabetes, cancer, and arthritis. As a result, age-related medical issues are common and can impact treatment decisions and outcomes.
3. Cognitive decline: Aging can also lead to cognitive changes, including memory loss and decreased decision-making abilities. These changes can affect a person's ability to understand and comply with medical instructions, leading to potential complications in their care.
4. Functional limitations: Older adults may experience physical limitations that impact their mobility, strength, and balance, increasing the risk of falls and other injuries. These limitations can also make it more challenging for them to perform daily activities, such as bathing, dressing, or cooking.
5. Social determinants: Age-related factors, such as social isolation, poverty, and lack of access to transportation, can impact a person's ability to obtain necessary medical care and affect their overall health outcomes.

Understanding age factors is critical for healthcare providers to deliver high-quality, patient-centered care that addresses the unique needs and challenges of older adults. By taking these factors into account, healthcare providers can develop personalized treatment plans that consider a person's age, physical condition, cognitive abilities, and social circumstances.

In epidemiology, the incidence of a disease is defined as the number of new cases of that disease within a specific population over a certain period of time. It is typically expressed as a rate, with the number of new cases in the numerator and the size of the population at risk in the denominator. Incidence provides information about the risk of developing a disease during a given time period and can be used to compare disease rates between different populations or to monitor trends in disease occurrence over time.

Autoimmune diseases are a group of disorders in which the immune system, which normally protects the body from foreign invaders like bacteria and viruses, mistakenly attacks the body's own cells and tissues. This results in inflammation and damage to various organs and tissues in the body.

In autoimmune diseases, the body produces autoantibodies that target its own proteins or cell receptors, leading to their destruction or malfunction. The exact cause of autoimmune diseases is not fully understood, but it is believed that a combination of genetic and environmental factors contribute to their development.

There are over 80 different types of autoimmune diseases, including rheumatoid arthritis, lupus, multiple sclerosis, type 1 diabetes, Hashimoto's thyroiditis, Graves' disease, psoriasis, and inflammatory bowel disease. Symptoms can vary widely depending on the specific autoimmune disease and the organs or tissues affected. Treatment typically involves managing symptoms and suppressing the immune system to prevent further damage.

A homozygote is an individual who has inherited the same allele (version of a gene) from both parents and therefore possesses two identical copies of that allele at a specific genetic locus. This can result in either having two dominant alleles (homozygous dominant) or two recessive alleles (homozygous recessive). In contrast, a heterozygote has inherited different alleles from each parent for a particular gene.

The term "homozygote" is used in genetics to describe the genetic makeup of an individual at a specific locus on their chromosomes. Homozygosity can play a significant role in determining an individual's phenotype (observable traits), as having two identical alleles can strengthen the expression of certain characteristics compared to having just one dominant and one recessive allele.

Single-Stranded Conformational Polymorphism (SSCP) is not a medical condition but rather a laboratory technique used in molecular biology and genetics. It refers to the phenomenon where a single-stranded DNA or RNA molecule can adopt different conformations or shapes based on its nucleotide sequence, even if the difference in the sequence is as small as a single base pair change. This property is used in SSCP analysis to detect mutations or variations in DNA or RNA sequences.

In SSCP analysis, the denatured single-stranded DNA or RNA sample is subjected to electrophoresis on a non-denaturing polyacrylamide gel. The different conformations of the single-stranded molecules migrate at different rates in the gel, creating multiple bands that can be visualized by staining or other detection methods. The presence of additional bands or shifts in band patterns can indicate the presence of a sequence variant or mutation.

SSCP analysis is often used as a screening tool for genetic diseases, cancer, and infectious diseases to identify genetic variations associated with these conditions. However, it has largely been replaced by more sensitive and accurate methods such as next-generation sequencing.

A "second primary neoplasm" is a distinct, new cancer or malignancy that develops in a person who has already had a previous cancer. It is not a recurrence or metastasis of the original tumor, but rather an independent cancer that arises in a different location or organ system. The development of second primary neoplasms can be influenced by various factors such as genetic predisposition, environmental exposures, and previous treatments like chemotherapy or radiation therapy.

It is important to note that the definition of "second primary neoplasm" may vary slightly depending on the specific source or context. In general medical usage, it refers to a new, separate cancer; however, in some research or clinical settings, there might be more precise criteria for defining and diagnosing second primary neoplasms.

Polymerase Chain Reaction (PCR) is a laboratory technique used to amplify specific regions of DNA. It enables the production of thousands to millions of copies of a particular DNA sequence in a rapid and efficient manner, making it an essential tool in various fields such as molecular biology, medical diagnostics, forensic science, and research.

The PCR process involves repeated cycles of heating and cooling to separate the DNA strands, allow primers (short sequences of single-stranded DNA) to attach to the target regions, and extend these primers using an enzyme called Taq polymerase, resulting in the exponential amplification of the desired DNA segment.

In a medical context, PCR is often used for detecting and quantifying specific pathogens (viruses, bacteria, fungi, or parasites) in clinical samples, identifying genetic mutations or polymorphisms associated with diseases, monitoring disease progression, and evaluating treatment effectiveness.

Breast neoplasms refer to abnormal growths in the breast tissue that can be benign or malignant. Benign breast neoplasms are non-cancerous tumors or growths, while malignant breast neoplasms are cancerous tumors that can invade surrounding tissues and spread to other parts of the body.

Breast neoplasms can arise from different types of cells in the breast, including milk ducts, milk sacs (lobules), or connective tissue. The most common type of breast cancer is ductal carcinoma, which starts in the milk ducts and can spread to other parts of the breast and nearby structures.

Breast neoplasms are usually detected through screening methods such as mammography, ultrasound, or MRI, or through self-examination or clinical examination. Treatment options for breast neoplasms depend on several factors, including the type and stage of the tumor, the patient's age and overall health, and personal preferences. Treatment may include surgery, radiation therapy, chemotherapy, hormone therapy, or targeted therapy.

The odds ratio (OR) is a statistical measure used in epidemiology and research to estimate the association between an exposure and an outcome. It represents the odds that an event will occur in one group versus the odds that it will occur in another group, assuming that all other factors are held constant.

In medical research, the odds ratio is often used to quantify the strength of the relationship between a risk factor (exposure) and a disease outcome. An OR of 1 indicates no association between the exposure and the outcome, while an OR greater than 1 suggests that there is a positive association between the two. Conversely, an OR less than 1 implies a negative association.

It's important to note that the odds ratio is not the same as the relative risk (RR), which compares the incidence rates of an outcome in two groups. While the OR can approximate the RR when the outcome is rare, they are not interchangeable and can lead to different conclusions about the association between an exposure and an outcome.

Inheritance patterns refer to the way in which a particular genetic trait or disorder is passed down from one generation to the next, following the rules of Mendelian genetics. There are several different inheritance patterns, including:

1. Autosomal dominant: A single copy of the altered gene in each cell is sufficient to cause the disorder. An affected parent has a 50% chance of passing on the altered gene to each offspring.
2. Autosomal recessive: Two copies of the altered gene in each cell are necessary for the disorder to occur. Both parents must be carriers of the altered gene and have a 25% chance of passing on the altered gene to each offspring, who may then develop the disorder.
3. X-linked dominant: The altered gene is located on the X chromosome, and one copy of the altered gene in each cell is sufficient to cause the disorder. Females are more likely to be affected than males, and an affected female has a 50% chance of passing on the altered gene to each offspring.
4. X-linked recessive: The altered gene is located on the X chromosome, and two copies of the altered gene in each cell are necessary for the disorder to occur. Males are more likely to be affected than females, and an affected male will pass on the altered gene to all of his daughters (who will be carriers) but none of his sons.
5. Mitochondrial inheritance: The altered gene is located in the mitochondria, the energy-producing structures in cells. Both males and females can pass on mitochondrial genetic disorders, but only through the female line because offspring inherit their mother's mitochondria.

Understanding inheritance patterns helps medical professionals predict the likelihood of a genetic disorder occurring in families and provides information about how a disorder may be passed down through generations.

Risk assessment in the medical context refers to the process of identifying, evaluating, and prioritizing risks to patients, healthcare workers, or the community related to healthcare delivery. It involves determining the likelihood and potential impact of adverse events or hazards, such as infectious diseases, medication errors, or medical devices failures, and implementing measures to mitigate or manage those risks. The goal of risk assessment is to promote safe and high-quality care by identifying areas for improvement and taking action to minimize harm.

HLA (Human Leukocyte Antigen) antigens are a group of proteins found on the surface of cells in our body. They play a crucial role in the immune system's ability to differentiate between "self" and "non-self." HLA antigens are encoded by a group of genes located on chromosome 6, known as the major histocompatibility complex (MHC).

There are three types of HLA antigens: HLA class I, HLA class II, and HLA class III. HLA class I antigens are found on the surface of almost all cells in the body and help the immune system recognize and destroy virus-infected or cancerous cells. They consist of three components: HLA-A, HLA-B, and HLA-C.

HLA class II antigens are primarily found on the surface of immune cells, such as macrophages, B cells, and dendritic cells. They assist in the presentation of foreign particles (like bacteria and viruses) to CD4+ T cells, which then activate other parts of the immune system. HLA class II antigens include HLA-DP, HLA-DQ, and HLA-DR.

HLA class III antigens consist of various molecules involved in immune responses, such as cytokines and complement components. They are not directly related to antigen presentation.

The genetic diversity of HLA antigens is extensive, with thousands of variations or alleles. This diversity allows for a better ability to recognize and respond to a wide range of pathogens. However, this variation can also lead to compatibility issues in organ transplantation, as the recipient's immune system may recognize the donor's HLA antigens as foreign and attack the transplanted organ.

Inbred strains of mice are defined as lines of mice that have been brother-sister mated for at least 20 consecutive generations. This results in a high degree of homozygosity, where the mice of an inbred strain are genetically identical to one another, with the exception of spontaneous mutations.

Inbred strains of mice are widely used in biomedical research due to their genetic uniformity and stability, which makes them useful for studying the genetic basis of various traits, diseases, and biological processes. They also provide a consistent and reproducible experimental system, as compared to outbred or genetically heterogeneous populations.

Some commonly used inbred strains of mice include C57BL/6J, BALB/cByJ, DBA/2J, and 129SvEv. Each strain has its own unique genetic background and phenotypic characteristics, which can influence the results of experiments. Therefore, it is important to choose the appropriate inbred strain for a given research question.

Autoimmunity is a medical condition in which the body's immune system mistakenly attacks and destroys healthy tissues within the body. In normal function, the immune system recognizes and fights off foreign substances such as bacteria, viruses, and toxins. However, when autoimmunity occurs, the immune system identifies self-molecules or tissues as foreign and produces an immune response against them.

This misguided response can lead to chronic inflammation, tissue damage, and impaired organ function. Autoimmune diseases can affect various parts of the body, including the joints, skin, glands, muscles, and blood vessels. Some common examples of autoimmune diseases are rheumatoid arthritis, lupus, multiple sclerosis, type 1 diabetes, Hashimoto's thyroiditis, and Graves' disease.

The exact cause of autoimmunity is not fully understood, but it is believed to involve a combination of genetic, environmental, and lifestyle factors that trigger an abnormal immune response in susceptible individuals. Treatment for autoimmune diseases typically involves managing symptoms, reducing inflammation, and suppressing the immune system's overactive response using medications such as corticosteroids, immunosuppressants, and biologics.

Pregnancy is a physiological state or condition where a fertilized egg (zygote) successfully implants and grows in the uterus of a woman, leading to the development of an embryo and finally a fetus. This process typically spans approximately 40 weeks, divided into three trimesters, and culminates in childbirth. Throughout this period, numerous hormonal and physical changes occur to support the growing offspring, including uterine enlargement, breast development, and various maternal adaptations to ensure the fetus's optimal growth and well-being.

Autoimmune thyroiditis, also known as Hashimoto's disease, is a chronic inflammation of the thyroid gland caused by an autoimmune response. In this condition, the immune system produces antibodies that attack and damage the thyroid gland, leading to hypothyroidism (underactive thyroid). The thyroid gland may become enlarged (goiter), and symptoms can include fatigue, weight gain, cold intolerance, constipation, dry skin, and depression. Autoimmune thyroiditis is more common in women than men and tends to run in families. It is often associated with other autoimmune disorders such as rheumatoid arthritis, Addison's disease, and type 1 diabetes. The diagnosis is typically made through blood tests that measure levels of thyroid hormones and antibodies. Treatment usually involves thyroid hormone replacement therapy to manage the symptoms of hypothyroidism.

A syndrome, in medical terms, is a set of symptoms that collectively indicate or characterize a disease, disorder, or underlying pathological process. It's essentially a collection of signs and/or symptoms that frequently occur together and can suggest a particular cause or condition, even though the exact physiological mechanisms might not be fully understood.

For example, Down syndrome is characterized by specific physical features, cognitive delays, and other developmental issues resulting from an extra copy of chromosome 21. Similarly, metabolic syndromes like diabetes mellitus type 2 involve a group of risk factors such as obesity, high blood pressure, high blood sugar, and abnormal cholesterol or triglyceride levels that collectively increase the risk of heart disease, stroke, and diabetes.

It's important to note that a syndrome is not a specific diagnosis; rather, it's a pattern of symptoms that can help guide further diagnostic evaluation and management.

Human chromosome pair 2 consists of two rod-shaped structures present in the nucleus of each cell of the human body. Each member of the pair contains thousands of genes and other genetic material, encoded in the form of DNA molecules. Chromosomes are the physical carriers of inheritance, and human cells typically contain 23 pairs of chromosomes for a total of 46 chromosomes.

Chromosome pair 2 is one of the autosomal pairs, meaning that it is not a sex chromosome (X or Y). Each member of chromosome pair 2 is approximately 247 million base pairs in length and contains an estimated 1,000-1,300 genes. These genes play crucial roles in various biological processes, including development, metabolism, and response to environmental stimuli.

Abnormalities in chromosome pair 2 can lead to genetic disorders, such as cat-eye syndrome (CES), which is characterized by iris abnormalities, anal atresia, hearing loss, and intellectual disability. This disorder arises from the presence of an extra copy of a small region on chromosome 2, resulting in partial trisomy of this region. Other genetic conditions associated with chromosome pair 2 include proximal 2q13.3 microdeletion syndrome and Potocki-Lupski syndrome (PTLS).

A LOD (Logarithm of Odds) score is not a medical term per se, but rather a statistical concept that is used in genetic research and linkage analysis to determine the likelihood of a gene or genetic marker being linked to a particular disease or trait. The LOD score compares the odds of observing the pattern of inheritance of a genetic marker in a family if the marker is linked to the disease, versus the odds if the marker is not linked. A LOD score of 3 or higher is generally considered evidence for linkage, while a score of -2 or lower is considered evidence against linkage.

Biliary cirrhosis is a specific type of liver cirrhosis that results from chronic inflammation and scarring of the bile ducts, leading to impaired bile flow, liver damage, and fibrosis. It can be further classified into primary biliary cholangitis (PBC) and secondary biliary cirrhosis. PBC is an autoimmune disease, while secondary biliary cirrhosis is often associated with chronic gallstones, biliary tract obstruction, or recurrent pyogenic cholangitis. Symptoms may include fatigue, itching, jaundice, and abdominal discomfort. Diagnosis typically involves blood tests, imaging studies, and sometimes liver biopsy. Treatment focuses on managing symptoms, slowing disease progression, and preventing complications.

HLA-DR antigens are a type of human leukocyte antigen (HLA) class II molecule that plays a crucial role in the immune system. They are found on the surface of antigen-presenting cells, such as dendritic cells, macrophages, and B lymphocytes. HLA-DR molecules present peptide antigens to CD4+ T cells, also known as helper T cells, thereby initiating an immune response.

HLA-DR antigens are highly polymorphic, meaning that there are many different variants of these molecules in the human population. This diversity allows for a wide range of potential peptide antigens to be presented and recognized by the immune system. HLA-DR antigens are encoded by genes located on chromosome 6 in the major histocompatibility complex (MHC) region.

In transplantation, HLA-DR compatibility between donor and recipient is an important factor in determining the success of the transplant. Incompatibility can lead to a heightened immune response against the transplanted organ or tissue, resulting in rejection. Additionally, certain HLA-DR types have been associated with increased susceptibility to autoimmune diseases, such as rheumatoid arthritis and multiple sclerosis.

Hypertension is a medical term used to describe abnormally high blood pressure in the arteries, often defined as consistently having systolic blood pressure (the top number in a blood pressure reading) over 130 mmHg and/or diastolic blood pressure (the bottom number) over 80 mmHg. It is also commonly referred to as high blood pressure.

Hypertension can be classified into two types: primary or essential hypertension, which has no identifiable cause and accounts for about 95% of cases, and secondary hypertension, which is caused by underlying medical conditions such as kidney disease, hormonal disorders, or use of certain medications.

If left untreated, hypertension can lead to serious health complications such as heart attack, stroke, heart failure, and chronic kidney disease. Therefore, it is important for individuals with hypertension to manage their condition through lifestyle modifications (such as healthy diet, regular exercise, stress management) and medication if necessary, under the guidance of a healthcare professional.

Human chromosome pair 6 consists of two rod-shaped structures present in the nucleus of each human cell. They are identical in size and shape and contain genetic material, made up of DNA and proteins, that is essential for the development and function of the human body.

Chromosome pair 6 is one of the 23 pairs of chromosomes found in humans, with one chromosome inherited from each parent. Each chromosome contains thousands of genes that provide instructions for the production of proteins and regulate various cellular processes.

Chromosome pair 6 contains several important genes, including those involved in the development and function of the immune system, such as the major histocompatibility complex (MHC) genes. It also contains genes associated with certain genetic disorders, such as hereditary neuropathy with liability to pressure palsies (HNPP), a condition that affects the nerves, and Waardenburg syndrome, a disorder that affects pigmentation and hearing.

Abnormalities in chromosome pair 6 can lead to various genetic disorders, including numerical abnormalities such as trisomy 6 (three copies of chromosome 6) or monosomy 6 (only one copy of chromosome 6), as well as structural abnormalities such as deletions, duplications, or translocations of parts of the chromosome.

Body Mass Index (BMI) is a measure used to assess whether a person has a healthy weight for their height. It's calculated by dividing a person's weight in kilograms by the square of their height in meters. Here is the medical definition:

Body Mass Index (BMI) = weight(kg) / [height(m)]^2

According to the World Health Organization, BMI categories are defined as follows:

* Less than 18.5: Underweight
* 18.5-24.9: Normal or healthy weight
* 25.0-29.9: Overweight
* 30.0 and above: Obese

It is important to note that while BMI can be a useful tool for identifying weight issues in populations, it does have limitations when applied to individuals. For example, it may not accurately reflect body fat distribution or muscle mass, which can affect health risks associated with excess weight. Therefore, BMI should be used as one of several factors when evaluating an individual's health status and risk for chronic diseases.

Autoantibodies are defined as antibodies that are produced by the immune system and target the body's own cells, tissues, or organs. These antibodies mistakenly identify certain proteins or molecules in the body as foreign invaders and attack them, leading to an autoimmune response. Autoantibodies can be found in various autoimmune diseases such as rheumatoid arthritis, lupus, and thyroiditis. The presence of autoantibodies can also be used as a diagnostic marker for certain conditions.

Celiac disease is a genetic autoimmune disorder in which the consumption of gluten, a protein found in wheat, barley, and rye, leads to damage in the small intestine. In people with celiac disease, their immune system reacts to gluten by attacking the lining of the small intestine, leading to inflammation and destruction of the villi - finger-like projections that help absorb nutrients from food.

This damage can result in various symptoms such as diarrhea, bloating, fatigue, anemia, and malnutrition. Over time, if left untreated, celiac disease can lead to serious health complications, including osteoporosis, infertility, neurological disorders, and even certain types of cancer.

The only treatment for celiac disease is a strict gluten-free diet, which involves avoiding all foods, beverages, and products that contain gluten. With proper management, individuals with celiac disease can lead healthy lives and prevent further intestinal damage and related health complications.

Crohn's disease is a type of inflammatory bowel disease (IBD) that can affect any part of the gastrointestinal tract, from the mouth to the anus. It is characterized by chronic inflammation of the digestive tract, which can lead to symptoms such as abdominal pain, diarrhea, fatigue, weight loss, and malnutrition.

The specific causes of Crohn's disease are not fully understood, but it is believed to be related to a combination of genetic, environmental, and immune system factors. The disease can affect people of any age, but it is most commonly diagnosed in young adults between the ages of 15 and 35.

There is no cure for Crohn's disease, but treatments such as medications, lifestyle changes, and surgery can help manage symptoms and prevent complications. Treatment options depend on the severity and location of the disease, as well as the individual patient's needs and preferences.

Prevalence, in medical terms, refers to the total number of people in a given population who have a particular disease or condition at a specific point in time, or over a specified period. It is typically expressed as a percentage or a ratio of the number of cases to the size of the population. Prevalence differs from incidence, which measures the number of new cases that develop during a certain period.

Restriction Fragment Length Polymorphism (RFLP) is a term used in molecular biology and genetics. It refers to the presence of variations in DNA sequences among individuals, which can be detected by restriction enzymes. These enzymes cut DNA at specific sites, creating fragments of different lengths.

In RFLP analysis, DNA is isolated from an individual and treated with a specific restriction enzyme that cuts the DNA at particular recognition sites. The resulting fragments are then separated by size using gel electrophoresis, creating a pattern unique to that individual's DNA. If there are variations in the DNA sequence between individuals, the restriction enzyme may cut the DNA at different sites, leading to differences in the length of the fragments and thus, a different pattern on the gel.

These variations can be used for various purposes, such as identifying individuals, diagnosing genetic diseases, or studying evolutionary relationships between species. However, RFLP analysis has largely been replaced by more modern techniques like polymerase chain reaction (PCR)-based methods and DNA sequencing, which offer higher resolution and throughput.

A newborn infant is a baby who is within the first 28 days of life. This period is also referred to as the neonatal period. Newborns require specialized care and attention due to their immature bodily systems and increased vulnerability to various health issues. They are closely monitored for signs of well-being, growth, and development during this critical time.

Smoking is not a medical condition, but it's a significant health risk behavior. Here is the definition from a public health perspective:

Smoking is the act of inhaling and exhaling the smoke of burning tobacco that is commonly consumed through cigarettes, pipes, and cigars. The smoke contains over 7,000 chemicals, including nicotine, tar, carbon monoxide, and numerous toxic and carcinogenic substances. These toxins contribute to a wide range of diseases and health conditions, such as lung cancer, heart disease, stroke, chronic obstructive pulmonary disease (COPD), and various other cancers, as well as adverse reproductive outcomes and negative impacts on the developing fetus during pregnancy. Smoking is highly addictive due to the nicotine content, which makes quitting smoking a significant challenge for many individuals.

A base sequence in the context of molecular biology refers to the specific order of nucleotides in a DNA or RNA molecule. In DNA, these nucleotides are adenine (A), guanine (G), cytosine (C), and thymine (T). In RNA, uracil (U) takes the place of thymine. The base sequence contains genetic information that is transcribed into RNA and ultimately translated into proteins. It is the exact order of these bases that determines the genetic code and thus the function of the DNA or RNA molecule.

I'm sorry for any confusion, but "siblings" is not a medical term. It is a term used in genealogy and sociology to refer to the brothers and sisters that someone has. Sibling relationships can have medical implications, such as when inherited genetic disorders are present in a family, but the term "siblings" itself does not have a specific medical definition.

Schizophrenia is a severe mental disorder characterized by disturbances in thought, perception, emotion, and behavior. It often includes hallucinations (usually hearing voices), delusions, paranoia, and disorganized speech and behavior. The onset of symptoms typically occurs in late adolescence or early adulthood. Schizophrenia is a complex, chronic condition that requires ongoing treatment and management. It significantly impairs social and occupational functioning, and it's often associated with reduced life expectancy due to comorbid medical conditions. The exact causes of schizophrenia are not fully understood, but research suggests that genetic, environmental, and neurodevelopmental factors play a role in its development.

Human chromosome pair 7 consists of two rod-shaped structures present in the nucleus of each cell in the human body. Each member of the pair is a single chromosome, and together they contain the genetic material that is inherited from both parents. They are identical in size, shape, and banding pattern and are therefore referred to as homologous chromosomes.

Chromosome 7 is one of the autosomal chromosomes, meaning it is not a sex chromosome (X or Y). It is composed of double-stranded DNA that contains approximately 159 million base pairs and around 1,200 genes. Chromosome 7 contains several important genes associated with human health and disease, including those involved in the development of certain types of cancer, such as colon cancer and lung cancer, as well as genetic disorders such as Williams-Beuren syndrome and Charcot-Marie-Tooth disease.

Abnormalities in chromosome 7 have been linked to various genetic conditions, including deletions, duplications, translocations, and other structural changes. These abnormalities can lead to developmental delays, intellectual disabilities, physical abnormalities, and increased risk of certain types of cancer.

Diabetic nephropathy is a kidney disease that occurs as a complication of diabetes. It is also known as diabetic kidney disease (DKD). This condition affects the ability of the kidneys to filter waste and excess fluids from the blood, leading to their accumulation in the body.

Diabetic nephropathy is caused by damage to the small blood vessels in the kidneys, which can occur over time due to high levels of glucose in the blood. This damage can lead to scarring and thickening of the kidney's filtering membranes, reducing their ability to function properly.

Symptoms of diabetic nephropathy may include proteinuria (the presence of protein in the urine), edema (swelling in the legs, ankles, or feet due to fluid retention), and hypertension (high blood pressure). Over time, if left untreated, diabetic nephropathy can progress to end-stage kidney disease, which requires dialysis or a kidney transplant.

Preventing or delaying the onset of diabetic nephropathy involves maintaining good control of blood sugar levels, keeping blood pressure under control, and making lifestyle changes such as quitting smoking, eating a healthy diet, and getting regular exercise. Regular monitoring of kidney function through urine tests and blood tests is also important for early detection and treatment of this condition.

Diabetes Mellitus, Type 1 is a chronic autoimmune disease characterized by the destruction of insulin-producing beta cells in the pancreas, leading to an absolute deficiency of insulin. This results in an inability to regulate blood glucose levels, causing hyperglycemia (high blood sugar). Type 1 diabetes typically presents in childhood or early adulthood, although it can develop at any age. It is usually managed with regular insulin injections or the use of an insulin pump, along with monitoring of blood glucose levels and adjustments to diet and physical activity. Uncontrolled type 1 diabetes can lead to serious complications such as kidney damage, nerve damage, blindness, and cardiovascular disease.

Dizygotic twins, also known as fraternal twins, are a result of two separate sperm fertilizing two separate eggs during conception. These twins share about 50% of their genes, similar to any non-twin siblings. They may be of the same sex or different sexes and can vary in appearance, personality, and interests. Dizygotic twins typically do not share a placenta or a sac in the womb, but they may share a chorion (outer fetal membrane).

In the field of medicine, "time factors" refer to the duration of symptoms or time elapsed since the onset of a medical condition, which can have significant implications for diagnosis and treatment. Understanding time factors is crucial in determining the progression of a disease, evaluating the effectiveness of treatments, and making critical decisions regarding patient care.

For example, in stroke management, "time is brain," meaning that rapid intervention within a specific time frame (usually within 4.5 hours) is essential to administering tissue plasminogen activator (tPA), a clot-busting drug that can minimize brain damage and improve patient outcomes. Similarly, in trauma care, the "golden hour" concept emphasizes the importance of providing definitive care within the first 60 minutes after injury to increase survival rates and reduce morbidity.

Time factors also play a role in monitoring the progression of chronic conditions like diabetes or heart disease, where regular follow-ups and assessments help determine appropriate treatment adjustments and prevent complications. In infectious diseases, time factors are crucial for initiating antibiotic therapy and identifying potential outbreaks to control their spread.

Overall, "time factors" encompass the significance of recognizing and acting promptly in various medical scenarios to optimize patient outcomes and provide effective care.

Skin neoplasms refer to abnormal growths or tumors in the skin that can be benign (non-cancerous) or malignant (cancerous). They result from uncontrolled multiplication of skin cells, which can form various types of lesions. These growths may appear as lumps, bumps, sores, patches, or discolored areas on the skin.

Benign skin neoplasms include conditions such as moles, warts, and seborrheic keratoses, while malignant skin neoplasms are primarily classified into melanoma, squamous cell carcinoma, and basal cell carcinoma. These three types of cancerous skin growths are collectively known as non-melanoma skin cancers (NMSCs). Melanoma is the most aggressive and dangerous form of skin cancer, while NMSCs tend to be less invasive but more common.

It's essential to monitor any changes in existing skin lesions or the appearance of new growths and consult a healthcare professional for proper evaluation and treatment if needed.

Environmental exposure refers to the contact of an individual with any chemical, physical, or biological agent in the environment that can cause a harmful effect on health. These exposures can occur through various pathways such as inhalation, ingestion, or skin contact. Examples of environmental exposures include air pollution, water contamination, occupational chemicals, and allergens. The duration and level of exposure, as well as the susceptibility of the individual, can all contribute to the risk of developing an adverse health effect.

C57BL/6 (C57 Black 6) is an inbred strain of laboratory mouse that is widely used in biomedical research. The term "inbred" refers to a strain of animals where matings have been carried out between siblings or other closely related individuals for many generations, resulting in a population that is highly homozygous at most genetic loci.

The C57BL/6 strain was established in 1920 by crossing a female mouse from the dilute brown (DBA) strain with a male mouse from the black strain. The resulting offspring were then interbred for many generations to create the inbred C57BL/6 strain.

C57BL/6 mice are known for their robust health, longevity, and ease of handling, making them a popular choice for researchers. They have been used in a wide range of biomedical research areas, including studies of cancer, immunology, neuroscience, cardiovascular disease, and metabolism.

One of the most notable features of the C57BL/6 strain is its sensitivity to certain genetic modifications, such as the introduction of mutations that lead to obesity or impaired glucose tolerance. This has made it a valuable tool for studying the genetic basis of complex diseases and traits.

Overall, the C57BL/6 inbred mouse strain is an important model organism in biomedical research, providing a valuable resource for understanding the genetic and molecular mechanisms underlying human health and disease.

"Sex factors" is a term used in medicine and epidemiology to refer to the differences in disease incidence, prevalence, or response to treatment that are observed between males and females. These differences can be attributed to biological differences such as genetics, hormones, and anatomy, as well as social and cultural factors related to gender.

For example, some conditions such as autoimmune diseases, depression, and osteoporosis are more common in women, while others such as cardiovascular disease and certain types of cancer are more prevalent in men. Additionally, sex differences have been observed in the effectiveness and side effects of various medications and treatments.

It is important to consider sex factors in medical research and clinical practice to ensure that patients receive appropriate and effective care.

"Genetic crosses" refer to the breeding of individuals with different genetic characteristics to produce offspring with specific combinations of traits. This process is commonly used in genetics research to study the inheritance patterns and function of specific genes.

There are several types of genetic crosses, including:

1. Monohybrid cross: A cross between two individuals that differ in the expression of a single gene or trait.
2. Dihybrid cross: A cross between two individuals that differ in the expression of two genes or traits.
3. Backcross: A cross between an individual from a hybrid population and one of its parental lines.
4. Testcross: A cross between an individual with unknown genotype and a homozygous recessive individual.
5. Reciprocal cross: A cross in which the male and female parents are reversed to determine if there is any effect of sex on the expression of the trait.

These genetic crosses help researchers to understand the mode of inheritance, linkage, recombination, and other genetic phenomena.

Peptidyl-dipeptidase A is more commonly known as angiotensin-converting enzyme (ACE). It is a key enzyme in the renin-angiotensin-aldosterone system (RAAS), which regulates blood pressure and fluid balance.

ACE is a membrane-bound enzyme found primarily in the lungs, but also in other tissues such as the heart, kidneys, and blood vessels. It plays a crucial role in converting the inactive decapeptide angiotensin I into the potent vasoconstrictor octapeptide angiotensin II, which constricts blood vessels and increases blood pressure.

ACE also degrades the peptide bradykinin, which is involved in the regulation of blood flow and vascular permeability. By breaking down bradykinin, ACE helps to counteract its vasodilatory effects, thereby maintaining blood pressure homeostasis.

Inhibitors of ACE are widely used as medications for the treatment of hypertension, heart failure, and diabetic kidney disease, among other conditions. These drugs work by blocking the action of ACE, leading to decreased levels of angiotensin II and increased levels of bradykinin, which results in vasodilation, reduced blood pressure, and improved cardiovascular function.

I am not aware of a specific medical definition for the term "China." Generally, it is used to refer to:

1. The People's Republic of China (PRC), which is a country in East Asia. It is the most populous country in the world and the fourth largest by geographical area. Its capital city is Beijing.
2. In a historical context, "China" was used to refer to various dynasties and empires that existed in East Asia over thousands of years. The term "Middle Kingdom" or "Zhongguo" (中国) has been used by the Chinese people to refer to their country for centuries.
3. In a more general sense, "China" can also be used to describe products or goods that originate from or are associated with the People's Republic of China.

If you have a specific context in which you encountered the term "China" related to medicine, please provide it so I can give a more accurate response.

Molecular sequence data refers to the specific arrangement of molecules, most commonly nucleotides in DNA or RNA, or amino acids in proteins, that make up a biological macromolecule. This data is generated through laboratory techniques such as sequencing, and provides information about the exact order of the constituent molecules. This data is crucial in various fields of biology, including genetics, evolution, and molecular biology, allowing for comparisons between different organisms, identification of genetic variations, and studies of gene function and regulation.

Promoter regions in genetics refer to specific DNA sequences located near the transcription start site of a gene. They serve as binding sites for RNA polymerase and various transcription factors that regulate the initiation of gene transcription. These regulatory elements help control the rate of transcription and, therefore, the level of gene expression. Promoter regions can be composed of different types of sequences, such as the TATA box and CAAT box, and their organization and composition can vary between different genes and species.

Alcoholism is a chronic and often relapsing brain disorder characterized by the excessive and compulsive consumption of alcohol despite negative consequences to one's health, relationships, and daily life. It is also commonly referred to as alcohol use disorder (AUD) or alcohol dependence.

The diagnostic criteria for AUD include a pattern of alcohol use that includes problems controlling intake, continued use despite problems resulting from drinking, development of a tolerance, drinking that leads to risky behaviors or situations, and withdrawal symptoms when not drinking.

Alcoholism can cause a wide range of physical and psychological health problems, including liver disease, heart disease, neurological damage, mental health disorders, and increased risk of accidents and injuries. Treatment for alcoholism typically involves a combination of behavioral therapies, medications, and support groups to help individuals achieve and maintain sobriety.

I'm sorry for any confusion, but "life style" is not a term that has a specific medical definition. It generally refers to the way an individual or group lives, including their habits, behaviors, and preferences in areas such as diet, exercise, recreation, and stress management. Some lifestyle factors can have a significant impact on health outcomes and risk for certain diseases. However, it is not a medical term with a specific clinical meaning.

I'm sorry for any confusion, but "Japan" is not a medical term. Japan is the name of a country, officially known as Nippon-koku or Nihon-koku in Japanese, and is located in East Asia. It is an island nation in the Pacific Ocean with a population of about 126 million people.

If you have any medical questions or terms that you would like me to define, please let me know!

RecQ helicases are a group of enzymes that belong to the RecQ family, which are named after the E. coli RecQ protein. These helicases play crucial roles in maintaining genomic stability by participating in various DNA metabolic processes such as DNA replication, repair, recombination, and transcription. They are highly conserved across different species, including bacteria, yeast, plants, and mammals.

In humans, there are five RecQ helicases: RECQL1, RECQL4, RECQL5, BLM (RecQ-like helicase), and WRN (Werner syndrome ATP-dependent helicase). Defects in these proteins have been linked to various genetic disorders. For instance, mutations in the BLM gene cause Bloom's syndrome, while mutations in the WRN gene lead to Werner syndrome, both of which are characterized by genomic instability and increased cancer predisposition.

RecQ helicases possess 3'-5' DNA helicase activity, unwinding double-stranded DNA into single strands, and can also perform other functions like branch migration, strand annealing, and removal of protein-DNA crosslinks. Their roles in DNA metabolism help prevent and resolve DNA damage, maintain proper chromosome segregation during cell division, and ensure the integrity of the genome.

I'm sorry for any confusion, but "Germany" is not a medical term or concept. It is the name of a country in central Europe. If you have any questions related to medical topics, I would be happy to try and help answer those for you!

A diet, in medical terms, refers to the planned and regular consumption of food and drinks. It is a balanced selection of nutrient-rich foods that an individual eats on a daily or periodic basis to meet their energy needs and maintain good health. A well-balanced diet typically includes a variety of fruits, vegetables, whole grains, lean proteins, and low-fat dairy products.

A diet may also be prescribed for therapeutic purposes, such as in the management of certain medical conditions like diabetes, hypertension, or obesity. In these cases, a healthcare professional may recommend specific restrictions or modifications to an individual's regular diet to help manage their condition and improve their overall health.

It is important to note that a healthy and balanced diet should be tailored to an individual's age, gender, body size, activity level, and any underlying medical conditions. Consulting with a healthcare professional, such as a registered dietitian or nutritionist, can help ensure that an individual's dietary needs are being met in a safe and effective way.

Exons are the coding regions of DNA that remain in the mature, processed mRNA after the removal of non-coding intronic sequences during RNA splicing. These exons contain the information necessary to encode proteins, as they specify the sequence of amino acids within a polypeptide chain. The arrangement and order of exons can vary between different genes and even between different versions of the same gene (alternative splicing), allowing for the generation of multiple protein isoforms from a single gene. This complexity in exon structure and usage significantly contributes to the diversity and functionality of the proteome.

The Chi-square distribution is a continuous probability distribution that is often used in statistical hypothesis testing. It is the distribution of a sum of squares of k independent standard normal random variables. The resulting quantity follows a chi-square distribution with k degrees of freedom, denoted as χ²(k).

The probability density function (pdf) of the Chi-square distribution with k degrees of freedom is given by:

f(x; k) = (1/ (2^(k/2) * Γ(k/2))) \* x^((k/2)-1) \* e^(-x/2), for x > 0 and 0, otherwise.

Where Γ(k/2) is the gamma function evaluated at k/2. The mean and variance of a Chi-square distribution with k degrees of freedom are k and 2k, respectively.

The Chi-square distribution has various applications in statistical inference, including testing goodness-of-fit, homogeneity of variances, and independence in contingency tables.

A human genome is the complete set of genetic information contained within the 23 pairs of chromosomes found in the nucleus of most human cells. It includes all of the genes, which are segments of DNA that contain the instructions for making proteins, as well as non-coding regions of DNA that regulate gene expression and provide structural support to the chromosomes.

The human genome contains approximately 3 billion base pairs of DNA and is estimated to contain around 20,000-25,000 protein-coding genes. The sequencing of the human genome was completed in 2003 as part of the Human Genome Project, which has had a profound impact on our understanding of human biology, disease, and evolution.

Species specificity is a term used in the field of biology, including medicine, to refer to the characteristic of a biological entity (such as a virus, bacterium, or other microorganism) that allows it to interact exclusively or preferentially with a particular species. This means that the biological entity has a strong affinity for, or is only able to infect, a specific host species.

For example, HIV is specifically adapted to infect human cells and does not typically infect other animal species. Similarly, some bacterial toxins are species-specific and can only affect certain types of animals or humans. This concept is important in understanding the transmission dynamics and host range of various pathogens, as well as in developing targeted therapies and vaccines.

Disease progression is the worsening or advancement of a medical condition over time. It refers to the natural course of a disease, including its development, the severity of symptoms and complications, and the impact on the patient's overall health and quality of life. Understanding disease progression is important for developing appropriate treatment plans, monitoring response to therapy, and predicting outcomes.

The rate of disease progression can vary widely depending on the type of medical condition, individual patient factors, and the effectiveness of treatment. Some diseases may progress rapidly over a short period of time, while others may progress more slowly over many years. In some cases, disease progression may be slowed or even halted with appropriate medical interventions, while in other cases, the progression may be inevitable and irreversible.

In clinical practice, healthcare providers closely monitor disease progression through regular assessments, imaging studies, and laboratory tests. This information is used to guide treatment decisions and adjust care plans as needed to optimize patient outcomes and improve quality of life.

Sjögren's syndrome is a chronic autoimmune disorder in which the body's immune system mistakenly attacks its own moisture-producing glands, particularly the tear and salivary glands. This can lead to symptoms such as dry eyes, dry mouth, and dryness in other areas of the body. In some cases, it may also affect other organs, leading to a variety of complications.

There are two types of Sjögren's syndrome: primary and secondary. Primary Sjögren's syndrome occurs when the condition develops on its own, while secondary Sjögren's syndrome occurs when it develops in conjunction with another autoimmune disease, such as rheumatoid arthritis or lupus.

The exact cause of Sjögren's syndrome is not fully understood, but it is believed to involve a combination of genetic and environmental factors. Treatment typically focuses on relieving symptoms and may include artificial tears, saliva substitutes, medications to stimulate saliva production, and immunosuppressive drugs in more severe cases.

DNA-binding proteins are a type of protein that have the ability to bind to DNA (deoxyribonucleic acid), the genetic material of organisms. These proteins play crucial roles in various biological processes, such as regulation of gene expression, DNA replication, repair and recombination.

The binding of DNA-binding proteins to specific DNA sequences is mediated by non-covalent interactions, including electrostatic, hydrogen bonding, and van der Waals forces. The specificity of binding is determined by the recognition of particular nucleotide sequences or structural features of the DNA molecule.

DNA-binding proteins can be classified into several categories based on their structure and function, such as transcription factors, histones, and restriction enzymes. Transcription factors are a major class of DNA-binding proteins that regulate gene expression by binding to specific DNA sequences in the promoter region of genes and recruiting other proteins to modulate transcription. Histones are DNA-binding proteins that package DNA into nucleosomes, the basic unit of chromatin structure. Restriction enzymes are DNA-binding proteins that recognize and cleave specific DNA sequences, and are widely used in molecular biology research and biotechnology applications.

Systemic Lupus Erythematosus (SLE) is a complex autoimmune disease that can affect almost any organ or system in the body. In SLE, the immune system produces an exaggerated response, leading to the production of autoantibodies that attack the body's own cells and tissues, causing inflammation and damage. The symptoms and severity of SLE can vary widely from person to person, but common features include fatigue, joint pain, skin rashes (particularly a "butterfly" rash across the nose and cheeks), fever, hair loss, and sensitivity to sunlight.

Systemic lupus erythematosus can also affect the kidneys, heart, lungs, brain, blood vessels, and other organs, leading to a wide range of symptoms such as kidney dysfunction, chest pain, shortness of breath, seizures, and anemia. The exact cause of SLE is not fully understood, but it is believed to involve a combination of genetic, environmental, and hormonal factors. Treatment typically involves medications to suppress the immune system and manage symptoms, and may require long-term management by a team of healthcare professionals.

Quantitative Trait Loci (QTL) are regions of the genome that are associated with variation in quantitative traits, which are traits that vary continuously in a population and are influenced by multiple genes and environmental factors. QTLs can help to explain how genetic variations contribute to differences in complex traits such as height, blood pressure, or disease susceptibility.

Quantitative trait loci are identified through statistical analysis of genetic markers and trait values in experimental crosses between genetically distinct individuals, such as strains of mice or plants. The location of a QTL is inferred based on the pattern of linkage disequilibrium between genetic markers and the trait of interest. Once a QTL has been identified, further analysis can be conducted to identify the specific gene or genes responsible for the variation in the trait.

It's important to note that QTLs are not themselves genes, but rather genomic regions that contain one or more genes that contribute to the variation in a quantitative trait. Additionally, because QTLs are identified through statistical analysis, they represent probabilistic estimates of the location of genetic factors influencing a trait and may encompass large genomic regions containing multiple genes. Therefore, additional research is often required to fine-map and identify the specific genes responsible for the variation in the trait.

Chromosome aberrations refer to structural and numerical changes in the chromosomes that can occur spontaneously or as a result of exposure to mutagenic agents. These changes can affect the genetic material encoded in the chromosomes, leading to various consequences such as developmental abnormalities, cancer, or infertility.

Structural aberrations include deletions, duplications, inversions, translocations, and rings, which result from breaks and rearrangements of chromosome segments. Numerical aberrations involve changes in the number of chromosomes, such as aneuploidy (extra or missing chromosomes) or polyploidy (multiples of a complete set of chromosomes).

Chromosome aberrations can be detected and analyzed using various cytogenetic techniques, including karyotyping, fluorescence in situ hybridization (FISH), and comparative genomic hybridization (CGH). These methods allow for the identification and characterization of chromosomal changes at the molecular level, providing valuable information for genetic counseling, diagnosis, and research.

Genetic models are theoretical frameworks used in genetics to describe and explain the inheritance patterns and genetic architecture of traits, diseases, or phenomena. These models are based on mathematical equations and statistical methods that incorporate information about gene frequencies, modes of inheritance, and the effects of environmental factors. They can be used to predict the probability of certain genetic outcomes, to understand the genetic basis of complex traits, and to inform medical management and treatment decisions.

There are several types of genetic models, including:

1. Mendelian models: These models describe the inheritance patterns of simple genetic traits that follow Mendel's laws of segregation and independent assortment. Examples include autosomal dominant, autosomal recessive, and X-linked inheritance.
2. Complex trait models: These models describe the inheritance patterns of complex traits that are influenced by multiple genes and environmental factors. Examples include heart disease, diabetes, and cancer.
3. Population genetics models: These models describe the distribution and frequency of genetic variants within populations over time. They can be used to study evolutionary processes, such as natural selection and genetic drift.
4. Quantitative genetics models: These models describe the relationship between genetic variation and phenotypic variation in continuous traits, such as height or IQ. They can be used to estimate heritability and to identify quantitative trait loci (QTLs) that contribute to trait variation.
5. Statistical genetics models: These models use statistical methods to analyze genetic data and infer the presence of genetic associations or linkage. They can be used to identify genetic risk factors for diseases or traits.

Overall, genetic models are essential tools in genetics research and medical genetics, as they allow researchers to make predictions about genetic outcomes, test hypotheses about the genetic basis of traits and diseases, and develop strategies for prevention, diagnosis, and treatment.

Bloom syndrome is a rare genetic disorder characterized by short stature, sun-sensitive skin rash, and an increased risk of developing cancer. It is caused by mutations in the BLM gene, which provides instructions for making a protein that helps prevent tangles and knots from forming in DNA during cell division. As a result, cells with Bloom syndrome have a high rate of genetic recombination, leading to chromosomal instability and an increased risk of cancer.

Individuals with Bloom syndrome typically have a distinctive facial appearance, including a narrow face, small jaw, and a prominent nose. They may also have learning disabilities, fertility problems, and an increased susceptibility to infections. The condition is inherited in an autosomal recessive manner, meaning that an individual must inherit two copies of the mutated gene, one from each parent, to develop the disorder. Bloom syndrome is typically diagnosed through genetic testing and chromosome analysis. Treatment is focused on managing the symptoms and reducing the risk of cancer through regular screenings and lifestyle modifications.

Prospective studies, also known as longitudinal studies, are a type of cohort study in which data is collected forward in time, following a group of individuals who share a common characteristic or exposure over a period of time. The researchers clearly define the study population and exposure of interest at the beginning of the study and follow up with the participants to determine the outcomes that develop over time. This type of study design allows for the investigation of causal relationships between exposures and outcomes, as well as the identification of risk factors and the estimation of disease incidence rates. Prospective studies are particularly useful in epidemiology and medical research when studying diseases with long latency periods or rare outcomes.

The brain is the central organ of the nervous system, responsible for receiving and processing sensory information, regulating vital functions, and controlling behavior, movement, and cognition. It is divided into several distinct regions, each with specific functions:

1. Cerebrum: The largest part of the brain, responsible for higher cognitive functions such as thinking, learning, memory, language, and perception. It is divided into two hemispheres, each controlling the opposite side of the body.
2. Cerebellum: Located at the back of the brain, it is responsible for coordinating muscle movements, maintaining balance, and fine-tuning motor skills.
3. Brainstem: Connects the cerebrum and cerebellum to the spinal cord, controlling vital functions such as breathing, heart rate, and blood pressure. It also serves as a relay center for sensory information and motor commands between the brain and the rest of the body.
4. Diencephalon: A region that includes the thalamus (a major sensory relay station) and hypothalamus (regulates hormones, temperature, hunger, thirst, and sleep).
5. Limbic system: A group of structures involved in emotional processing, memory formation, and motivation, including the hippocampus, amygdala, and cingulate gyrus.

The brain is composed of billions of interconnected neurons that communicate through electrical and chemical signals. It is protected by the skull and surrounded by three layers of membranes called meninges, as well as cerebrospinal fluid that provides cushioning and nutrients.

I'm sorry for any confusion, but "France" is not a medical term or concept. France is the largest country in Western Europe and the third-largest in Europe after Russia and Ukraine. It has been a major player in world affairs for centuries, with a significant cultural and artistic influence. If you have any questions about medical terms or concepts, I would be happy to help answer those for you.

Ulcerative colitis is a type of inflammatory bowel disease (IBD) that affects the lining of the large intestine (colon) and rectum. In ulcerative colitis, the lining of the colon becomes inflamed and develops ulcers or open sores that produce pus and mucous. The symptoms of ulcerative colitis include diarrhea, abdominal pain, and rectal bleeding.

The exact cause of ulcerative colitis is not known, but it is thought to be related to an abnormal immune response in which the body's immune system attacks the cells in the digestive tract. The inflammation can be triggered by environmental factors such as diet, stress, and infections.

Ulcerative colitis is a chronic condition that can cause symptoms ranging from mild to severe. It can also lead to complications such as anemia, malnutrition, and colon cancer. There is no cure for ulcerative colitis, but treatment options such as medications, lifestyle changes, and surgery can help manage the symptoms and prevent complications.

The term "African Continental Ancestry Group" is a racial category used in the field of genetics and population health to describe individuals who have ancestral origins in the African continent. This group includes people from diverse ethnic backgrounds, cultures, and languages across the African continent. It's important to note that this term is used for genetic and epidemiological research purposes and should not be used to make assumptions about an individual's personal identity, culture, or experiences.

It's also worth noting that there is significant genetic diversity within Africa, and using a single category to describe all individuals with African ancestry can oversimplify this diversity. Therefore, it's more accurate and informative to specify the particular population or region of African ancestry when discussing genetic research or health outcomes.

Logistic models, specifically logistic regression models, are a type of statistical analysis used in medical and epidemiological research to identify the relationship between the risk of a certain health outcome or disease (dependent variable) and one or more independent variables, such as demographic factors, exposure variables, or other clinical measurements.

In contrast to linear regression models, logistic regression models are used when the dependent variable is binary or dichotomous in nature, meaning it can only take on two values, such as "disease present" or "disease absent." The model uses a logistic function to estimate the probability of the outcome based on the independent variables.

Logistic regression models are useful for identifying risk factors and estimating the strength of associations between exposures and health outcomes, adjusting for potential confounders, and predicting the probability of an outcome given certain values of the independent variables. They can also be used to develop clinical prediction rules or scores that can aid in decision-making and patient care.

Anxiety: A feeling of worry, nervousness, or unease, typically about an imminent event or something with an uncertain outcome. In a medical context, anxiety refers to a mental health disorder characterized by feelings of excessive and persistent worry, fear, or panic that interfere with daily activities. It can also be a symptom of other medical conditions, such as heart disease, diabetes, or substance abuse disorders. Anxiety disorders include generalized anxiety disorder, panic disorder, social anxiety disorder, and phobias.

Fanconi anemia is a rare, inherited disorder that affects the body's ability to produce healthy blood cells. It is characterized by bone marrow failure, congenital abnormalities, and an increased risk of developing certain types of cancer. The condition is caused by mutations in genes responsible for repairing damaged DNA, leading to chromosomal instability and cell death.

The classic form of Fanconi anemia (type A) is typically diagnosed in childhood and is associated with various physical abnormalities such as short stature, skin pigmentation changes, thumb and radial ray anomalies, kidney and genitourinary malformations, and developmental delays. Other types of Fanconi anemia (B-G) may have different clinical presentations but share the common feature of bone marrow failure and cancer predisposition.

Bone marrow failure in Fanconi anemia results in decreased production of all three types of blood cells: red blood cells, white blood cells, and platelets. This can lead to anemia (low red blood cell count), neutropenia (low white blood cell count), and thrombocytopenia (low platelet count). These conditions increase the risk of infections, fatigue, and bleeding.

Individuals with Fanconi anemia have a significantly higher risk of developing various types of cancer, particularly acute myeloid leukemia (AML) and solid tumors such as squamous cell carcinomas of the head, neck, esophagus, and anogenital region.

Treatment for Fanconi anemia typically involves managing symptoms related to bone marrow failure, such as transfusions, growth factors, and antibiotics. Hematopoietic stem cell transplantation (HSCT) is the only curative treatment option for bone marrow failure but carries risks of its own, including graft-versus-host disease and transplant-related mortality. Regular cancer surveillance is essential due to the increased risk of malignancies in these patients.

Inflammation is a complex biological response of tissues to harmful stimuli, such as pathogens, damaged cells, or irritants. It is characterized by the following signs: rubor (redness), tumor (swelling), calor (heat), dolor (pain), and functio laesa (loss of function). The process involves the activation of the immune system, recruitment of white blood cells, and release of inflammatory mediators, which contribute to the elimination of the injurious stimuli and initiation of the healing process. However, uncontrolled or chronic inflammation can also lead to tissue damage and diseases.

Li-Fraumeni Syndrome (LFS) is a rare, hereditary cancer predisposition syndrome. It is characterized by a high risk of developing multiple types of cancers throughout an individual's lifetime. The condition is caused by mutations in the TP53 gene, which plays a crucial role in suppressing tumor growth and maintaining genomic stability.

Individuals with Li-Fraumeni Syndrome have an increased risk of developing various malignancies, including:

1. Sarcomas (soft tissue and bone cancers) - most commonly occurring before the age of 45
2. Breast cancer - often diagnosed at a younger age than sporadic cases
3. Leukemias (blood cancers)
4. Brain tumors, particularly gliomas and medulloblastomas
5. Adrenocortical carcinoma (a rare type of cancer affecting the adrenal glands)
6. Other cancers such as lung, melanoma, and gastrointestinal malignancies

Li-Fraumeni Syndrome is typically inherited in an autosomal dominant manner, meaning that a person has a 50% chance of inheriting the mutated gene from an affected parent. However, de novo (new) mutations can also occur, resulting in individuals with LFS who do not have a family history of the condition.

Due to the high risk of cancer development, individuals with Li-Fraumeni Syndrome require close surveillance and early intervention strategies to manage their cancer risk effectively. Regular screenings, such as magnetic resonance imaging (MRI), computerized tomography (CT) scans, and mammograms, are often recommended for early detection and treatment of potential malignancies.

Inflammatory Bowel Diseases (IBD) are a group of chronic inflammatory conditions primarily affecting the gastrointestinal tract. The two main types of IBD are Crohn's disease and ulcerative colitis.

Crohn's disease can cause inflammation in any part of the digestive system, from the mouth to the anus, but it most commonly affects the lower part of the small intestine (the ileum) and/or the colon. The inflammation caused by Crohn's disease often spreads deep into the layers of affected bowel tissue.

Ulcerative colitis, on the other hand, is limited to the colon, specifically the innermost lining of the colon. It causes long-lasting inflammation and sores (ulcers) in the lining of the large intestine (colon) and rectum.

Symptoms can vary depending on the severity and location of inflammation but often include abdominal pain, diarrhea, fatigue, weight loss, and reduced appetite. IBD is not the same as irritable bowel syndrome (IBS), which is a functional gastrointestinal disorder.

The exact cause of IBD remains unknown, but it's thought to be a combination of genetic factors, an abnormal immune response, and environmental triggers. There is no cure for IBD, but treatments can help manage symptoms and reduce inflammation, potentially leading to long-term remission.

Psychological stress is the response of an individual's mind and body to challenging or demanding situations. It can be defined as a state of emotional and physical tension resulting from adversity, demand, or change. This response can involve a variety of symptoms, including emotional, cognitive, behavioral, and physiological components.

Emotional responses may include feelings of anxiety, fear, anger, sadness, or frustration. Cognitive responses might involve difficulty concentrating, racing thoughts, or negative thinking patterns. Behaviorally, psychological stress can lead to changes in appetite, sleep patterns, social interactions, and substance use. Physiologically, the body's "fight-or-flight" response is activated, leading to increased heart rate, blood pressure, muscle tension, and other symptoms.

Psychological stress can be caused by a wide range of factors, including work or school demands, financial problems, relationship issues, traumatic events, chronic illness, and major life changes. It's important to note that what causes stress in one person may not cause stress in another, as individual perceptions and coping mechanisms play a significant role.

Chronic psychological stress can have negative effects on both mental and physical health, increasing the risk of conditions such as anxiety disorders, depression, heart disease, diabetes, and autoimmune diseases. Therefore, it's essential to identify sources of stress and develop effective coping strategies to manage and reduce its impact.

Colorectal neoplasms refer to abnormal growths in the colon or rectum, which can be benign or malignant. These growths can arise from the inner lining (mucosa) of the colon or rectum and can take various forms such as polyps, adenomas, or carcinomas.

Benign neoplasms, such as hyperplastic polyps and inflammatory polyps, are not cancerous but may need to be removed to prevent the development of malignant tumors. Adenomas, on the other hand, are precancerous lesions that can develop into colorectal cancer if left untreated.

Colorectal cancer is a malignant neoplasm that arises from the uncontrolled growth and division of cells in the colon or rectum. It is one of the most common types of cancer worldwide and can spread to other parts of the body through the bloodstream or lymphatic system.

Regular screening for colorectal neoplasms is recommended for individuals over the age of 50, as early detection and removal of precancerous lesions can significantly reduce the risk of developing colorectal cancer.

Deoxyribonucleic acid (DNA) is the genetic material present in the cells of organisms where it is responsible for the storage and transmission of hereditary information. DNA is a long molecule that consists of two strands coiled together to form a double helix. Each strand is made up of a series of four nucleotide bases - adenine (A), guanine (G), cytosine (C), and thymine (T) - that are linked together by phosphate and sugar groups. The sequence of these bases along the length of the molecule encodes genetic information, with A always pairing with T and C always pairing with G. This base-pairing allows for the replication and transcription of DNA, which are essential processes in the functioning and reproduction of all living organisms.

Gene expression profiling is a laboratory technique used to measure the activity (expression) of thousands of genes at once. This technique allows researchers and clinicians to identify which genes are turned on or off in a particular cell, tissue, or organism under specific conditions, such as during health, disease, development, or in response to various treatments.

The process typically involves isolating RNA from the cells or tissues of interest, converting it into complementary DNA (cDNA), and then using microarray or high-throughput sequencing technologies to determine which genes are expressed and at what levels. The resulting data can be used to identify patterns of gene expression that are associated with specific biological states or processes, providing valuable insights into the underlying molecular mechanisms of diseases and potential targets for therapeutic intervention.

In recent years, gene expression profiling has become an essential tool in various fields, including cancer research, drug discovery, and personalized medicine, where it is used to identify biomarkers of disease, predict patient outcomes, and guide treatment decisions.

Transgenic mice are genetically modified rodents that have incorporated foreign DNA (exogenous DNA) into their own genome. This is typically done through the use of recombinant DNA technology, where a specific gene or genetic sequence of interest is isolated and then introduced into the mouse embryo. The resulting transgenic mice can then express the protein encoded by the foreign gene, allowing researchers to study its function in a living organism.

The process of creating transgenic mice usually involves microinjecting the exogenous DNA into the pronucleus of a fertilized egg, which is then implanted into a surrogate mother. The offspring that result from this procedure are screened for the presence of the foreign DNA, and those that carry the desired genetic modification are used to establish a transgenic mouse line.

Transgenic mice have been widely used in biomedical research to model human diseases, study gene function, and test new therapies. They provide a valuable tool for understanding complex biological processes and developing new treatments for a variety of medical conditions.

Body weight is the measure of the force exerted on a scale or balance by an object's mass, most commonly expressed in units such as pounds (lb) or kilograms (kg). In the context of medical definitions, body weight typically refers to an individual's total weight, which includes their skeletal muscle, fat, organs, and bodily fluids.

Healthcare professionals often use body weight as a basic indicator of overall health status, as it can provide insights into various aspects of a person's health, such as nutritional status, metabolic function, and risk factors for certain diseases. For example, being significantly underweight or overweight can increase the risk of developing conditions like malnutrition, diabetes, heart disease, and certain types of cancer.

It is important to note that body weight alone may not provide a complete picture of an individual's health, as it does not account for factors such as muscle mass, bone density, or body composition. Therefore, healthcare professionals often use additional measures, such as body mass index (BMI), waist circumference, and blood tests, to assess overall health status more comprehensively.

Epigenetics is the study of heritable changes in gene function that occur without a change in the underlying DNA sequence. These changes can be caused by various mechanisms such as DNA methylation, histone modification, and non-coding RNA molecules. Epigenetic changes can be influenced by various factors including age, environment, lifestyle, and disease state.

Genetic epigenesis specifically refers to the study of how genetic factors influence these epigenetic modifications. Genetic variations between individuals can lead to differences in epigenetic patterns, which in turn can contribute to phenotypic variation and susceptibility to diseases. For example, certain genetic variants may predispose an individual to develop cancer, and environmental factors such as smoking or exposure to chemicals can interact with these genetic variants to trigger epigenetic changes that promote tumor growth.

Overall, the field of genetic epigenesis aims to understand how genetic and environmental factors interact to regulate gene expression and contribute to disease susceptibility.

Carcinogens are agents (substances or mixtures of substances) that can cause cancer. They may be naturally occurring or man-made. Carcinogens can increase the risk of cancer by altering cellular DNA, disrupting cellular function, or promoting cell growth. Examples of carcinogens include certain chemicals found in tobacco smoke, asbestos, UV radiation from the sun, and some viruses.

It's important to note that not all exposures to carcinogens will result in cancer, and the risk typically depends on factors such as the level and duration of exposure, individual genetic susceptibility, and lifestyle choices. The International Agency for Research on Cancer (IARC) classifies carcinogens into different groups based on the strength of evidence linking them to cancer:

Group 1: Carcinogenic to humans
Group 2A: Probably carcinogenic to humans
Group 2B: Possibly carcinogenic to humans
Group 3: Not classifiable as to its carcinogenicity to humans
Group 4: Probably not carcinogenic to humans

This information is based on medical research and may be subject to change as new studies become available. Always consult a healthcare professional for medical advice.

DNA Sequence Analysis is the systematic determination of the order of nucleotides in a DNA molecule. It is a critical component of modern molecular biology, genetics, and genetic engineering. The process involves determining the exact order of the four nucleotide bases - adenine (A), guanine (G), cytosine (C), and thymine (T) - in a DNA molecule or fragment. This information is used in various applications such as identifying gene mutations, studying evolutionary relationships, developing molecular markers for breeding, and diagnosing genetic diseases.

The process of DNA Sequence Analysis typically involves several steps, including DNA extraction, PCR amplification (if necessary), purification, sequencing reaction, and electrophoresis. The resulting data is then analyzed using specialized software to determine the exact sequence of nucleotides.

In recent years, high-throughput DNA sequencing technologies have revolutionized the field of genomics, enabling the rapid and cost-effective sequencing of entire genomes. This has led to an explosion of genomic data and new insights into the genetic basis of many diseases and traits.

"Motor activity" is a general term used in the field of medicine and neuroscience to refer to any kind of physical movement or action that is generated by the body's motor system. The motor system includes the brain, spinal cord, nerves, and muscles that work together to produce movements such as walking, talking, reaching for an object, or even subtle actions like moving your eyes.

Motor activity can be voluntary, meaning it is initiated intentionally by the individual, or involuntary, meaning it is triggered automatically by the nervous system without conscious control. Examples of voluntary motor activity include deliberately lifting your arm or kicking a ball, while examples of involuntary motor activity include heartbeat, digestion, and reflex actions like jerking your hand away from a hot stove.

Abnormalities in motor activity can be a sign of neurological or muscular disorders, such as Parkinson's disease, cerebral palsy, or multiple sclerosis. Assessment of motor activity is often used in the diagnosis and treatment of these conditions.

Innate immunity, also known as non-specific immunity or natural immunity, is the inherent defense mechanism that provides immediate protection against potentially harmful pathogens (like bacteria, viruses, fungi, and parasites) without the need for prior exposure. This type of immunity is present from birth and does not adapt to specific threats over time.

Innate immune responses involve various mechanisms such as:

1. Physical barriers: Skin and mucous membranes prevent pathogens from entering the body.
2. Chemical barriers: Enzymes, stomach acid, and lysozyme in tears, saliva, and sweat help to destroy or inhibit the growth of microorganisms.
3. Cellular responses: Phagocytic cells (neutrophils, monocytes, macrophages) recognize and engulf foreign particles and pathogens, while natural killer (NK) cells target and eliminate virus-infected or cancerous cells.
4. Inflammatory response: When an infection occurs, the innate immune system triggers inflammation to increase blood flow, recruit immune cells, and remove damaged tissue.
5. Complement system: A group of proteins that work together to recognize and destroy pathogens directly or enhance phagocytosis by coating them with complement components (opsonization).

Innate immunity plays a crucial role in initiating the adaptive immune response, which is specific to particular pathogens and provides long-term protection through memory cells. Both innate and adaptive immunity work together to maintain overall immune homeostasis and protect the body from infections and diseases.

Ethanol is the medical term for pure alcohol, which is a colorless, clear, volatile, flammable liquid with a characteristic odor and burning taste. It is the type of alcohol that is found in alcoholic beverages and is produced by the fermentation of sugars by yeasts.

In the medical field, ethanol is used as an antiseptic and disinfectant, and it is also used as a solvent for various medicinal preparations. It has central nervous system depressant properties and is sometimes used as a sedative or to induce sleep. However, excessive consumption of ethanol can lead to alcohol intoxication, which can cause a range of negative health effects, including impaired judgment, coordination, and memory, as well as an increased risk of accidents, injuries, and chronic diseases such as liver disease and addiction.

Proteins are complex, large molecules that play critical roles in the body's functions. They are made up of amino acids, which are organic compounds that are the building blocks of proteins. Proteins are required for the structure, function, and regulation of the body's tissues and organs. They are essential for the growth, repair, and maintenance of body tissues, and they play a crucial role in many biological processes, including metabolism, immune response, and cellular signaling. Proteins can be classified into different types based on their structure and function, such as enzymes, hormones, antibodies, and structural proteins. They are found in various foods, especially animal-derived products like meat, dairy, and eggs, as well as plant-based sources like beans, nuts, and grains.

A "knockout" mouse is a genetically engineered mouse in which one or more genes have been deleted or "knocked out" using molecular biology techniques. This allows researchers to study the function of specific genes and their role in various biological processes, as well as potential associations with human diseases. The mice are generated by introducing targeted DNA modifications into embryonic stem cells, which are then used to create a live animal. Knockout mice have been widely used in biomedical research to investigate gene function, disease mechanisms, and potential therapeutic targets.

Biological models, also known as physiological models or organismal models, are simplified representations of biological systems, processes, or mechanisms that are used to understand and explain the underlying principles and relationships. These models can be theoretical (conceptual or mathematical) or physical (such as anatomical models, cell cultures, or animal models). They are widely used in biomedical research to study various phenomena, including disease pathophysiology, drug action, and therapeutic interventions.

Examples of biological models include:

1. Mathematical models: These use mathematical equations and formulas to describe complex biological systems or processes, such as population dynamics, metabolic pathways, or gene regulation networks. They can help predict the behavior of these systems under different conditions and test hypotheses about their underlying mechanisms.
2. Cell cultures: These are collections of cells grown in a controlled environment, typically in a laboratory dish or flask. They can be used to study cellular processes, such as signal transduction, gene expression, or metabolism, and to test the effects of drugs or other treatments on these processes.
3. Animal models: These are living organisms, usually vertebrates like mice, rats, or non-human primates, that are used to study various aspects of human biology and disease. They can provide valuable insights into the pathophysiology of diseases, the mechanisms of drug action, and the safety and efficacy of new therapies.
4. Anatomical models: These are physical representations of biological structures or systems, such as plastic models of organs or tissues, that can be used for educational purposes or to plan surgical procedures. They can also serve as a basis for developing more sophisticated models, such as computer simulations or 3D-printed replicas.

Overall, biological models play a crucial role in advancing our understanding of biology and medicine, helping to identify new targets for therapeutic intervention, develop novel drugs and treatments, and improve human health.

I'm sorry for any confusion, but "Utah" is not a medical term or concept. It is a geographical location, being the 45th state admitted to the United States of America. If you have any questions related to medical topics, I would be happy to try and help answer those for you!

Aging is a complex, progressive and inevitable process of bodily changes over time, characterized by the accumulation of cellular damage and degenerative changes that eventually lead to increased vulnerability to disease and death. It involves various biological, genetic, environmental, and lifestyle factors that contribute to the decline in physical and mental functions. The medical field studies aging through the discipline of gerontology, which aims to understand the underlying mechanisms of aging and develop interventions to promote healthy aging and extend the human healthspan.

I'm sorry for any confusion, but "United States" is a geopolitical entity, specifically the name of the country consisting of 50 states, and it is not a medical term or concept. Therefore, I can't provide a medical definition for it. If you have any questions related to health, medicine, or biology, I would be happy to try to help answer those!

Reference values, also known as reference ranges or reference intervals, are the set of values that are considered normal or typical for a particular population or group of people. These values are often used in laboratory tests to help interpret test results and determine whether a patient's value falls within the expected range.

The process of establishing reference values typically involves measuring a particular biomarker or parameter in a large, healthy population and then calculating the mean and standard deviation of the measurements. Based on these statistics, a range is established that includes a certain percentage of the population (often 95%) and excludes extreme outliers.

It's important to note that reference values can vary depending on factors such as age, sex, race, and other demographic characteristics. Therefore, it's essential to use reference values that are specific to the relevant population when interpreting laboratory test results. Additionally, reference values may change over time due to advances in measurement technology or changes in the population being studied.

A biological marker, often referred to as a biomarker, is a measurable indicator that reflects the presence or severity of a disease state, or a response to a therapeutic intervention. Biomarkers can be found in various materials such as blood, tissues, or bodily fluids, and they can take many forms, including molecular, histologic, radiographic, or physiological measurements.

In the context of medical research and clinical practice, biomarkers are used for a variety of purposes, such as:

1. Diagnosis: Biomarkers can help diagnose a disease by indicating the presence or absence of a particular condition. For example, prostate-specific antigen (PSA) is a biomarker used to detect prostate cancer.
2. Monitoring: Biomarkers can be used to monitor the progression or regression of a disease over time. For instance, hemoglobin A1c (HbA1c) levels are monitored in diabetes patients to assess long-term blood glucose control.
3. Predicting: Biomarkers can help predict the likelihood of developing a particular disease or the risk of a negative outcome. For example, the presence of certain genetic mutations can indicate an increased risk for breast cancer.
4. Response to treatment: Biomarkers can be used to evaluate the effectiveness of a specific treatment by measuring changes in the biomarker levels before and after the intervention. This is particularly useful in personalized medicine, where treatments are tailored to individual patients based on their unique biomarker profiles.

It's important to note that for a biomarker to be considered clinically valid and useful, it must undergo rigorous validation through well-designed studies, including demonstrating sensitivity, specificity, reproducibility, and clinical relevance.

'Alcohol drinking' refers to the consumption of alcoholic beverages, which contain ethanol (ethyl alcohol) as the active ingredient. Ethanol is a central nervous system depressant that can cause euphoria, disinhibition, and sedation when consumed in small to moderate amounts. However, excessive drinking can lead to alcohol intoxication, with symptoms ranging from slurred speech and impaired coordination to coma and death.

Alcohol is metabolized in the liver by enzymes such as alcohol dehydrogenase (ADH) and aldehyde dehydrogenase (ALDH). The breakdown of ethanol produces acetaldehyde, a toxic compound that can cause damage to various organs in the body. Chronic alcohol drinking can lead to a range of health problems, including liver disease, pancreatitis, cardiovascular disease, neurological disorders, and increased risk of cancer.

Moderate drinking is generally defined as up to one drink per day for women and up to two drinks per day for men, where a standard drink contains about 14 grams (0.6 ounces) of pure alcohol. However, it's important to note that there are no safe levels of alcohol consumption, and any level of drinking carries some risk to health.

Signal transduction is the process by which a cell converts an extracellular signal, such as a hormone or neurotransmitter, into an intracellular response. This involves a series of molecular events that transmit the signal from the cell surface to the interior of the cell, ultimately resulting in changes in gene expression, protein activity, or metabolism.

The process typically begins with the binding of the extracellular signal to a receptor located on the cell membrane. This binding event activates the receptor, which then triggers a cascade of intracellular signaling molecules, such as second messengers, protein kinases, and ion channels. These molecules amplify and propagate the signal, ultimately leading to the activation or inhibition of specific cellular responses.

Signal transduction pathways are highly regulated and can be modulated by various factors, including other signaling molecules, post-translational modifications, and feedback mechanisms. Dysregulation of these pathways has been implicated in a variety of diseases, including cancer, diabetes, and neurological disorders.

Carrier proteins, also known as transport proteins, are a type of protein that facilitates the movement of molecules across cell membranes. They are responsible for the selective and active transport of ions, sugars, amino acids, and other molecules from one side of the membrane to the other, against their concentration gradient. This process requires energy, usually in the form of ATP (adenosine triphosphate).

Carrier proteins have a specific binding site for the molecule they transport, and undergo conformational changes upon binding, which allows them to move the molecule across the membrane. Once the molecule has been transported, the carrier protein returns to its original conformation, ready to bind and transport another molecule.

Carrier proteins play a crucial role in maintaining the balance of ions and other molecules inside and outside of cells, and are essential for many physiological processes, including nerve impulse transmission, muscle contraction, and nutrient uptake.

Analysis of Variance (ANOVA) is a statistical technique used to compare the means of two or more groups and determine whether there are any significant differences between them. It is a way to analyze the variance in a dataset to determine whether the variability between groups is greater than the variability within groups, which can indicate that the groups are significantly different from one another.

ANOVA is based on the concept of partitioning the total variance in a dataset into two components: variance due to differences between group means (also known as "between-group variance") and variance due to differences within each group (also known as "within-group variance"). By comparing these two sources of variance, ANOVA can help researchers determine whether any observed differences between groups are statistically significant, or whether they could have occurred by chance.

ANOVA is a widely used technique in many areas of research, including biology, psychology, engineering, and business. It is often used to compare the means of two or more experimental groups, such as a treatment group and a control group, to determine whether the treatment had a significant effect. ANOVA can also be used to compare the means of different populations or subgroups within a population, to identify any differences that may exist between them.

Oligonucleotide Array Sequence Analysis is a type of microarray analysis that allows for the simultaneous measurement of the expression levels of thousands of genes in a single sample. In this technique, oligonucleotides (short DNA sequences) are attached to a solid support, such as a glass slide, in a specific pattern. These oligonucleotides are designed to be complementary to specific target mRNA sequences from the sample being analyzed.

During the analysis, labeled RNA or cDNA from the sample is hybridized to the oligonucleotide array. The level of hybridization is then measured and used to determine the relative abundance of each target sequence in the sample. This information can be used to identify differences in gene expression between samples, which can help researchers understand the underlying biological processes involved in various diseases or developmental stages.

It's important to note that this technique requires specialized equipment and bioinformatics tools for data analysis, as well as careful experimental design and validation to ensure accurate and reproducible results.

Lung neoplasms refer to abnormal growths or tumors in the lung tissue. These tumors can be benign (non-cancerous) or malignant (cancerous). Malignant lung neoplasms are further classified into two main types: small cell lung carcinoma and non-small cell lung carcinoma. Lung neoplasms can cause symptoms such as cough, chest pain, shortness of breath, and weight loss. They are often caused by smoking or exposure to secondhand smoke, but can also occur due to genetic factors, radiation exposure, and other environmental carcinogens. Early detection and treatment of lung neoplasms is crucial for improving outcomes and survival rates.

Homeostasis is a fundamental concept in the field of medicine and physiology, referring to the body's ability to maintain a stable internal environment, despite changes in external conditions. It is the process by which biological systems regulate their internal environment to remain in a state of dynamic equilibrium. This is achieved through various feedback mechanisms that involve sensors, control centers, and effectors, working together to detect, interpret, and respond to disturbances in the system.

For example, the body maintains homeostasis through mechanisms such as temperature regulation (through sweating or shivering), fluid balance (through kidney function and thirst), and blood glucose levels (through insulin and glucagon secretion). When homeostasis is disrupted, it can lead to disease or dysfunction in the body.

In summary, homeostasis is the maintenance of a stable internal environment within biological systems, through various regulatory mechanisms that respond to changes in external conditions.

Adenocarcinoma is a type of cancer that arises from glandular epithelial cells. These cells line the inside of many internal organs, including the breasts, prostate, colon, and lungs. Adenocarcinomas can occur in any of these organs, as well as in other locations where glands are present.

The term "adenocarcinoma" is used to describe a cancer that has features of glandular tissue, such as mucus-secreting cells or cells that produce hormones. These cancers often form glandular structures within the tumor mass and may produce mucus or other substances.

Adenocarcinomas are typically slow-growing and tend to spread (metastasize) to other parts of the body through the lymphatic system or bloodstream. They can be treated with surgery, radiation therapy, chemotherapy, targeted therapy, or a combination of these treatments. The prognosis for adenocarcinoma depends on several factors, including the location and stage of the cancer, as well as the patient's overall health and age.

Cytokines are a broad and diverse category of small signaling proteins that are secreted by various cells, including immune cells, in response to different stimuli. They play crucial roles in regulating the immune response, inflammation, hematopoiesis, and cellular communication.

Cytokines mediate their effects by binding to specific receptors on the surface of target cells, which triggers intracellular signaling pathways that ultimately result in changes in gene expression, cell behavior, and function. Some key functions of cytokines include:

1. Regulating the activation, differentiation, and proliferation of immune cells such as T cells, B cells, natural killer (NK) cells, and macrophages.
2. Coordinating the inflammatory response by recruiting immune cells to sites of infection or tissue damage and modulating their effector functions.
3. Regulating hematopoiesis, the process of blood cell formation in the bone marrow, by controlling the proliferation, differentiation, and survival of hematopoietic stem and progenitor cells.
4. Modulating the development and function of the nervous system, including neuroinflammation, neuroprotection, and neuroregeneration.

Cytokines can be classified into several categories based on their structure, function, or cellular origin. Some common types of cytokines include interleukins (ILs), interferons (IFNs), tumor necrosis factors (TNFs), chemokines, colony-stimulating factors (CSFs), and transforming growth factors (TGFs). Dysregulation of cytokine production and signaling has been implicated in various pathological conditions, such as autoimmune diseases, chronic inflammation, cancer, and neurodegenerative disorders.

Ataxia telangiectasia is a rare, inherited genetic disorder that affects the nervous system, immune system, and overall development. The condition is characterized by progressive difficulty with coordination and balance (ataxia), as well as the development of small, dilated blood vessels (telangiectasias) on the skin and eyes.

The underlying cause of ataxia telangiectasia is a mutation in the ATM gene, which provides instructions for making a protein that plays a critical role in DNA repair and maintaining genetic stability. When this gene is mutated, cells are unable to properly repair damaged DNA, leading to an increased risk of cancer and other health problems.

Individuals with ataxia telangiectasia typically begin to show symptoms during early childhood, with progressive difficulties in coordination and balance, slurred speech, and recurrent respiratory infections due to weakened immune function. Over time, these symptoms can worsen, leading to significant disability and reduced life expectancy.

There is currently no cure for ataxia telangiectasia, and treatment is focused on managing the symptoms and complications of the condition. This may include physical therapy, speech therapy, and medications to help control infections and other health problems.

Adipose tissue, also known as fatty tissue, is a type of connective tissue that is composed mainly of adipocytes (fat cells). It is found throughout the body, but is particularly abundant in the abdominal cavity, beneath the skin, and around organs such as the heart and kidneys.

Adipose tissue serves several important functions in the body. One of its primary roles is to store energy in the form of fat, which can be mobilized and used as an energy source during periods of fasting or exercise. Adipose tissue also provides insulation and cushioning for the body, and produces hormones that help regulate metabolism, appetite, and reproductive function.

There are two main types of adipose tissue: white adipose tissue (WAT) and brown adipose tissue (BAT). WAT is the more common form and is responsible for storing energy as fat. BAT, on the other hand, contains a higher number of mitochondria and is involved in heat production and energy expenditure.

Excessive accumulation of adipose tissue can lead to obesity, which is associated with an increased risk of various health problems such as diabetes, heart disease, and certain types of cancer.

BRCA2 (pronounced "braca two") protein is a tumor suppressor protein that plays a crucial role in repairing damaged DNA in cells. It is encoded by the BRCA2 gene, which is located on chromosome 13. Mutations in the BRCA2 gene have been associated with an increased risk of developing certain types of cancer, particularly breast and ovarian cancer in women, and breast and prostate cancer in men.

The BRCA2 protein interacts with other proteins to repair double-strand breaks in DNA through a process called homologous recombination. When the BRCA2 protein is not functioning properly due to a mutation, damaged DNA may not be repaired correctly, leading to genetic instability and an increased risk of cancer.

It's important to note that not all people with BRCA2 mutations will develop cancer, but their risk is higher than those without the mutation. Genetic testing can identify individuals who have inherited a mutation in the BRCA2 gene and help guide medical management and screening recommendations.

Prognosis is a medical term that refers to the prediction of the likely outcome or course of a disease, including the chances of recovery or recurrence, based on the patient's symptoms, medical history, physical examination, and diagnostic tests. It is an important aspect of clinical decision-making and patient communication, as it helps doctors and patients make informed decisions about treatment options, set realistic expectations, and plan for future care.

Prognosis can be expressed in various ways, such as percentages, categories (e.g., good, fair, poor), or survival rates, depending on the nature of the disease and the available evidence. However, it is important to note that prognosis is not an exact science and may vary depending on individual factors, such as age, overall health status, and response to treatment. Therefore, it should be used as a guide rather than a definitive forecast.

Blood pressure is the force exerted by circulating blood on the walls of the blood vessels. It is measured in millimeters of mercury (mmHg) and is given as two figures:

1. Systolic pressure: This is the pressure when the heart pushes blood out into the arteries.
2. Diastolic pressure: This is the pressure when the heart rests between beats, allowing it to fill with blood.

Normal blood pressure for adults is typically around 120/80 mmHg, although this can vary slightly depending on age, sex, and other factors. High blood pressure (hypertension) is generally considered to be a reading of 130/80 mmHg or higher, while low blood pressure (hypotension) is usually defined as a reading below 90/60 mmHg. It's important to note that blood pressure can fluctuate throughout the day and may be affected by factors such as stress, physical activity, and medication use.

Cardiovascular diseases (CVDs) are a class of diseases that affect the heart and blood vessels. They are the leading cause of death globally, according to the World Health Organization (WHO). The term "cardiovascular disease" refers to a group of conditions that include:

1. Coronary artery disease (CAD): This is the most common type of heart disease and occurs when the arteries that supply blood to the heart become narrowed or blocked due to the buildup of cholesterol, fat, and other substances in the walls of the arteries. This can lead to chest pain, shortness of breath, or a heart attack.
2. Heart failure: This occurs when the heart is unable to pump blood efficiently to meet the body's needs. It can be caused by various conditions, including coronary artery disease, high blood pressure, and cardiomyopathy.
3. Stroke: A stroke occurs when the blood supply to a part of the brain is interrupted or reduced, often due to a clot or a ruptured blood vessel. This can cause brain damage or death.
4. Peripheral artery disease (PAD): This occurs when the arteries that supply blood to the limbs become narrowed or blocked, leading to pain, numbness, or weakness in the legs or arms.
5. Rheumatic heart disease: This is a complication of untreated strep throat and can cause damage to the heart valves, leading to heart failure or other complications.
6. Congenital heart defects: These are structural problems with the heart that are present at birth. They can range from mild to severe and may require medical intervention.
7. Cardiomyopathy: This is a disease of the heart muscle that makes it harder for the heart to pump blood efficiently. It can be caused by various factors, including genetics, infections, and certain medications.
8. Heart arrhythmias: These are abnormal heart rhythms that can cause the heart to beat too fast, too slow, or irregularly. They can lead to symptoms such as palpitations, dizziness, or fainting.
9. Valvular heart disease: This occurs when one or more of the heart valves become damaged or diseased, leading to problems with blood flow through the heart.
10. Aortic aneurysm and dissection: These are conditions that affect the aorta, the largest artery in the body. An aneurysm is a bulge in the aorta, while a dissection is a tear in the inner layer of the aorta. Both can be life-threatening if not treated promptly.

It's important to note that many of these conditions can be managed or treated with medical interventions such as medications, surgery, or lifestyle changes. If you have any concerns about your heart health, it's important to speak with a healthcare provider.

A questionnaire in the medical context is a standardized, systematic, and structured tool used to gather information from individuals regarding their symptoms, medical history, lifestyle, or other health-related factors. It typically consists of a series of written questions that can be either self-administered or administered by an interviewer. Questionnaires are widely used in various areas of healthcare, including clinical research, epidemiological studies, patient care, and health services evaluation to collect data that can inform diagnosis, treatment planning, and population health management. They provide a consistent and organized method for obtaining information from large groups or individual patients, helping to ensure accurate and comprehensive data collection while minimizing bias and variability in the information gathered.

DNA repair is the process by which cells identify and correct damage to the DNA molecules that encode their genome. DNA can be damaged by a variety of internal and external factors, such as radiation, chemicals, and metabolic byproducts. If left unrepaired, this damage can lead to mutations, which may in turn lead to cancer and other diseases.

There are several different mechanisms for repairing DNA damage, including:

1. Base excision repair (BER): This process repairs damage to a single base in the DNA molecule. An enzyme called a glycosylase removes the damaged base, leaving a gap that is then filled in by other enzymes.
2. Nucleotide excision repair (NER): This process repairs more severe damage, such as bulky adducts or crosslinks between the two strands of the DNA molecule. An enzyme cuts out a section of the damaged DNA, and the gap is then filled in by other enzymes.
3. Mismatch repair (MMR): This process repairs errors that occur during DNA replication, such as mismatched bases or small insertions or deletions. Specialized enzymes recognize the error and remove a section of the newly synthesized strand, which is then replaced by new nucleotides.
4. Double-strand break repair (DSBR): This process repairs breaks in both strands of the DNA molecule. There are two main pathways for DSBR: non-homologous end joining (NHEJ) and homologous recombination (HR). NHEJ directly rejoins the broken ends, while HR uses a template from a sister chromatid to repair the break.

Overall, DNA repair is a crucial process that helps maintain genome stability and prevent the development of diseases caused by genetic mutations.

Rothmund-Thomson syndrome (RTS) is a rare genetic disorder characterized by the triad of poikiloderma, juvenile cataracts, and skeletal abnormalities. Poikiloderma is a skin condition that involves changes in coloration, including redness, brownish pigmentation, and telangiectasia (dilation of small blood vessels), as well as atrophy (wasting) of the skin.

The syndrome is caused by mutations in the RECQL4 gene, which plays a role in DNA repair. RTS has an autosomal recessive pattern of inheritance, meaning that an individual must inherit two copies of the mutated gene, one from each parent, to develop the condition.

Individuals with RTS may also experience other symptoms, such as sparse hair, short stature, small hands and feet, missing teeth, and a predisposition to developing certain types of cancer, particularly osteosarcoma (a type of bone cancer). The severity of the condition can vary widely among individuals.

RTS is typically diagnosed based on clinical features and genetic testing. Treatment is focused on managing the symptoms of the condition and may include measures such as sun protection to prevent skin damage, eye exams to monitor for cataracts, and regular cancer screenings.

African Americans are defined as individuals who have ancestry from any of the black racial groups of Africa. This term is often used to describe people living in the United States who have total or partial descent from enslaved African peoples. The term does not refer to a single ethnicity but is a broad term that includes various ethnic groups with diverse cultures, languages, and traditions. It's important to note that some individuals may prefer to identify as Black or of African descent rather than African American, depending on their personal identity and background.

Adenomatous Polyposis Coli (APC) is a genetic disorder characterized by the development of numerous adenomatous polyps in the colon and rectum. APC is caused by mutations in the APC gene, which is a tumor suppressor gene that helps regulate cell growth and division. When the APC gene is mutated, it can lead to uncontrolled cell growth and the development of polyps, which can eventually become cancerous.

Individuals with APC typically develop hundreds to thousands of polyps in their colon and rectum, usually beginning in adolescence or early adulthood. If left untreated, APC can lead to colorectal cancer in nearly all affected individuals by the age of 40.

APC is an autosomal dominant disorder, which means that a person has a 50% chance of inheriting the mutated gene from an affected parent. However, some cases of APC may also occur spontaneously due to new mutations in the APC gene. Treatment for APC typically involves surgical removal of the colon and rectum (colectomy) to prevent the development of colorectal cancer. Regular surveillance with colonoscopy is also recommended to monitor for the development of new polyps.

Tumor Necrosis Factor-alpha (TNF-α) is a cytokine, a type of small signaling protein involved in immune response and inflammation. It is primarily produced by activated macrophages, although other cell types such as T-cells, natural killer cells, and mast cells can also produce it.

TNF-α plays a crucial role in the body's defense against infection and tissue injury by mediating inflammatory responses, activating immune cells, and inducing apoptosis (programmed cell death) in certain types of cells. It does this by binding to its receptors, TNFR1 and TNFR2, which are found on the surface of many cell types.

In addition to its role in the immune response, TNF-α has been implicated in the pathogenesis of several diseases, including autoimmune disorders such as rheumatoid arthritis, inflammatory bowel disease, and psoriasis, as well as cancer, where it can promote tumor growth and metastasis.

Therapeutic agents that target TNF-α, such as infliximab, adalimumab, and etanercept, have been developed to treat these conditions. However, these drugs can also increase the risk of infections and other side effects, so their use must be carefully monitored.

Regression analysis is a statistical technique used in medicine, as well as in other fields, to examine the relationship between one or more independent variables (predictors) and a dependent variable (outcome). It allows for the estimation of the average change in the outcome variable associated with a one-unit change in an independent variable, while controlling for the effects of other independent variables. This technique is often used to identify risk factors for diseases or to evaluate the effectiveness of medical interventions. In medical research, regression analysis can be used to adjust for potential confounding variables and to quantify the relationship between exposures and health outcomes. It can also be used in predictive modeling to estimate the probability of a particular outcome based on multiple predictors.

Messenger RNA (mRNA) is a type of RNA (ribonucleic acid) that carries genetic information copied from DNA in the form of a series of three-base code "words," each of which specifies a particular amino acid. This information is used by the cell's machinery to construct proteins, a process known as translation. After being transcribed from DNA, mRNA travels out of the nucleus to the ribosomes in the cytoplasm where protein synthesis occurs. Once the protein has been synthesized, the mRNA may be degraded and recycled. Post-transcriptional modifications can also occur to mRNA, such as alternative splicing and addition of a 5' cap and a poly(A) tail, which can affect its stability, localization, and translation efficiency.

Hereditary Nonpolyposis Colorectal Neoplasms (HNPCC), also known as Lynch Syndrome, is a genetic disorder that significantly increases the risk of developing colorectal cancer and other types of cancer. It is characterized by the mutation in genes responsible for repairing mistakes in the DNA replication process, specifically the mismatch repair genes (MMR).

HNPCC is typically inherited in an autosomal dominant manner, meaning that a person has a 50% chance of inheriting the mutated gene from an affected parent. The syndrome is associated with the development of colorectal cancer at a younger age, usually before 50 years old, and often in the proximal colon. Individuals with HNPCC also have an increased risk for other cancers, including endometrial, stomach, small intestine, ovary, kidney, brain, and skin (sebaceous gland tumors).

Regular surveillance and screening are crucial for early detection and management of colorectal neoplasms in individuals with HNPCC. This typically includes colonoscopies starting at a younger age and performed more frequently than in the general population. Genetic counseling and testing may also be recommended for family members who may have inherited the mutated gene.

A Severity of Illness Index is a measurement tool used in healthcare to assess the severity of a patient's condition and the risk of mortality or other adverse outcomes. These indices typically take into account various physiological and clinical variables, such as vital signs, laboratory values, and co-morbidities, to generate a score that reflects the patient's overall illness severity.

Examples of Severity of Illness Indices include the Acute Physiology and Chronic Health Evaluation (APACHE) system, the Simplified Acute Physiology Score (SAPS), and the Mortality Probability Model (MPM). These indices are often used in critical care settings to guide clinical decision-making, inform prognosis, and compare outcomes across different patient populations.

It is important to note that while these indices can provide valuable information about a patient's condition, they should not be used as the sole basis for clinical decision-making. Rather, they should be considered in conjunction with other factors, such as the patient's overall clinical presentation, treatment preferences, and goals of care.

Retrospective studies, also known as retrospective research or looking back studies, are a type of observational study that examines data from the past to draw conclusions about possible causal relationships between risk factors and outcomes. In these studies, researchers analyze existing records, medical charts, or previously collected data to test a hypothesis or answer a specific research question.

Retrospective studies can be useful for generating hypotheses and identifying trends, but they have limitations compared to prospective studies, which follow participants forward in time from exposure to outcome. Retrospective studies are subject to biases such as recall bias, selection bias, and information bias, which can affect the validity of the results. Therefore, retrospective studies should be interpreted with caution and used primarily to generate hypotheses for further testing in prospective studies.

Insulin resistance is a condition in which the body's cells become less responsive to insulin, a hormone produced by the pancreas that regulates blood sugar levels. In response to this decreased sensitivity, the pancreas produces more insulin to help glucose enter the cells. However, over time, the pancreas may not be able to keep up with the increased demand for insulin, leading to high levels of glucose in the blood and potentially resulting in type 2 diabetes, prediabetes, or other health issues such as metabolic syndrome, cardiovascular disease, and non-alcoholic fatty liver disease. Insulin resistance is often associated with obesity, physical inactivity, and genetic factors.

'Gene expression regulation' refers to the processes that control whether, when, and where a particular gene is expressed, meaning the production of a specific protein or functional RNA encoded by that gene. This complex mechanism can be influenced by various factors such as transcription factors, chromatin remodeling, DNA methylation, non-coding RNAs, and post-transcriptional modifications, among others. Proper regulation of gene expression is crucial for normal cellular function, development, and maintaining homeostasis in living organisms. Dysregulation of gene expression can lead to various diseases, including cancer and genetic disorders.

BALB/c is an inbred strain of laboratory mouse that is widely used in biomedical research. The strain was developed at the Institute of Cancer Research in London by Henry Baldwin and his colleagues in the 1920s, and it has since become one of the most commonly used inbred strains in the world.

BALB/c mice are characterized by their black coat color, which is determined by a recessive allele at the tyrosinase locus. They are also known for their docile and friendly temperament, making them easy to handle and work with in the laboratory.

One of the key features of BALB/c mice that makes them useful for research is their susceptibility to certain types of tumors and immune responses. For example, they are highly susceptible to developing mammary tumors, which can be induced by chemical carcinogens or viral infection. They also have a strong Th2-biased immune response, which makes them useful models for studying allergic diseases and asthma.

BALB/c mice are also commonly used in studies of genetics, neuroscience, behavior, and infectious diseases. Because they are an inbred strain, they have a uniform genetic background, which makes it easier to control for genetic factors in experiments. Additionally, because they have been bred in the laboratory for many generations, they are highly standardized and reproducible, making them ideal subjects for scientific research.

Asthma is a chronic respiratory disease characterized by inflammation and narrowing of the airways, leading to symptoms such as wheezing, coughing, shortness of breath, and chest tightness. The airway obstruction in asthma is usually reversible, either spontaneously or with treatment.

The underlying cause of asthma involves a combination of genetic and environmental factors that result in hypersensitivity of the airways to certain triggers, such as allergens, irritants, viruses, exercise, and emotional stress. When these triggers are encountered, the airways constrict due to smooth muscle spasm, swell due to inflammation, and produce excess mucus, leading to the characteristic symptoms of asthma.

Asthma is typically managed with a combination of medications that include bronchodilators to relax the airway muscles, corticosteroids to reduce inflammation, and leukotriene modifiers or mast cell stabilizers to prevent allergic reactions. Avoiding triggers and monitoring symptoms are also important components of asthma management.

There are several types of asthma, including allergic asthma, non-allergic asthma, exercise-induced asthma, occupational asthma, and nocturnal asthma, each with its own set of triggers and treatment approaches. Proper diagnosis and management of asthma can help prevent exacerbations, improve quality of life, and reduce the risk of long-term complications.

Peutz-Jeghers Syndrome (PJS) is a rare genetic disorder characterized by the development of benign tumors called hamartomas in the gastrointestinal tract and pigmented macules on the skin and mucous membranes. The syndrome is caused by mutations in the STK11/LKB1 gene, which is involved in regulating cell growth and division.

Individuals with PJS have an increased risk of developing various types of cancer, including gastrointestinal tract cancers, breast cancer, ovarian cancer, lung cancer, and cervical cancer. The diagnosis of PJS is typically made based on the presence of characteristic clinical features, such as multiple pigmented macules on the skin and mucous membranes, and a history of benign gastrointestinal tumors or family history of PJS.

Management of PJS involves regular surveillance for gastrointestinal tumors and cancer screening, as well as genetic counseling and testing for family members who may be at risk. Treatment options depend on the location and size of the tumors and may include endoscopic removal or surgery.

Medical Definition:

Magnetic Resonance Imaging (MRI) is a non-invasive diagnostic imaging technique that uses a strong magnetic field and radio waves to create detailed cross-sectional or three-dimensional images of the internal structures of the body. The patient lies within a large, cylindrical magnet, and the scanner detects changes in the direction of the magnetic field caused by protons in the body. These changes are then converted into detailed images that help medical professionals to diagnose and monitor various medical conditions, such as tumors, injuries, or diseases affecting the brain, spinal cord, heart, blood vessels, joints, and other internal organs. MRI does not use radiation like computed tomography (CT) scans.

The intestinal mucosa is the innermost layer of the intestines, which comes into direct contact with digested food and microbes. It is a specialized epithelial tissue that plays crucial roles in nutrient absorption, barrier function, and immune defense. The intestinal mucosa is composed of several cell types, including absorptive enterocytes, mucus-secreting goblet cells, hormone-producing enteroendocrine cells, and immune cells such as lymphocytes and macrophages.

The surface of the intestinal mucosa is covered by a single layer of epithelial cells, which are joined together by tight junctions to form a protective barrier against harmful substances and microorganisms. This barrier also allows for the selective absorption of nutrients into the bloodstream. The intestinal mucosa also contains numerous lymphoid follicles, known as Peyer's patches, which are involved in immune surveillance and defense against pathogens.

In addition to its role in absorption and immunity, the intestinal mucosa is also capable of producing hormones that regulate digestion and metabolism. Dysfunction of the intestinal mucosa can lead to various gastrointestinal disorders, such as inflammatory bowel disease, celiac disease, and food allergies.

Gene expression is the process by which the information encoded in a gene is used to synthesize a functional gene product, such as a protein or RNA molecule. This process involves several steps: transcription, RNA processing, and translation. During transcription, the genetic information in DNA is copied into a complementary RNA molecule, known as messenger RNA (mRNA). The mRNA then undergoes RNA processing, which includes adding a cap and tail to the mRNA and splicing out non-coding regions called introns. The resulting mature mRNA is then translated into a protein on ribosomes in the cytoplasm through the process of translation.

The regulation of gene expression is a complex and highly controlled process that allows cells to respond to changes in their environment, such as growth factors, hormones, and stress signals. This regulation can occur at various stages of gene expression, including transcriptional activation or repression, RNA processing, mRNA stability, and translation. Dysregulation of gene expression has been implicated in many diseases, including cancer, genetic disorders, and neurological conditions.

A registry in the context of medicine is a collection or database of standardized information about individuals who share a certain condition or attribute, such as a disease, treatment, exposure, or demographic group. These registries are used for various purposes, including:

* Monitoring and tracking the natural history of diseases and conditions
* Evaluating the safety and effectiveness of medical treatments and interventions
* Conducting research and generating hypotheses for further study
* Providing information to patients, clinicians, and researchers
* Informing public health policy and decision-making

Registries can be established for a wide range of purposes, including disease-specific registries (such as cancer or diabetes registries), procedure-specific registries (such as joint replacement or cardiac surgery registries), and population-based registries (such as birth defects or cancer registries). Data collected in registries may include demographic information, clinical data, laboratory results, treatment details, and outcomes.

Registries can be maintained by a variety of organizations, including hospitals, clinics, academic medical centers, professional societies, government agencies, and industry. Participation in registries is often voluntary, although some registries may require informed consent from participants. Data collected in registries are typically de-identified to protect the privacy of individuals.

Follow-up studies are a type of longitudinal research that involve repeated observations or measurements of the same variables over a period of time, in order to understand their long-term effects or outcomes. In medical context, follow-up studies are often used to evaluate the safety and efficacy of medical treatments, interventions, or procedures.

In a typical follow-up study, a group of individuals (called a cohort) who have received a particular treatment or intervention are identified and then followed over time through periodic assessments or data collection. The data collected may include information on clinical outcomes, adverse events, changes in symptoms or functional status, and other relevant measures.

The results of follow-up studies can provide important insights into the long-term benefits and risks of medical interventions, as well as help to identify factors that may influence treatment effectiveness or patient outcomes. However, it is important to note that follow-up studies can be subject to various biases and limitations, such as loss to follow-up, recall bias, and changes in clinical practice over time, which must be carefully considered when interpreting the results.

BRCA1 protein is a tumor suppressor protein that plays a crucial role in repairing damaged DNA and maintaining genomic stability. The BRCA1 gene provides instructions for making this protein. Mutations in the BRCA1 gene can lead to impaired function of the BRCA1 protein, significantly increasing the risk of developing breast, ovarian, and other types of cancer.

The BRCA1 protein forms complexes with several other proteins to participate in various cellular processes, such as:

1. DNA damage response and repair: BRCA1 helps recognize and repair double-strand DNA breaks through homologous recombination, a precise error-free repair mechanism.
2. Cell cycle checkpoints: BRCA1 is involved in regulating the G1/S and G2/M cell cycle checkpoints to ensure proper DNA replication and cell division.
3. Transcription regulation: BRCA1 can act as a transcriptional co-regulator, influencing the expression of genes involved in various cellular processes, including DNA repair and cell cycle control.
4. Apoptosis: In cases of severe or irreparable DNA damage, BRCA1 helps trigger programmed cell death (apoptosis) to eliminate potentially cancerous cells.

Individuals with inherited mutations in the BRCA1 gene have a higher risk of developing breast and ovarian cancers compared to the general population. Genetic testing for BRCA1 mutations is available for individuals with a family history of these cancers or those who meet specific clinical criteria. Identifying carriers of BRCA1 mutations allows for enhanced cancer surveillance, risk reduction strategies, and potential targeted therapies.

Longitudinal studies are a type of research design where data is collected from the same subjects repeatedly over a period of time, often years or even decades. These studies are used to establish patterns of changes and events over time, and can help researchers identify causal relationships between variables. They are particularly useful in fields such as epidemiology, psychology, and sociology, where the focus is on understanding developmental trends and the long-term effects of various factors on health and behavior.

In medical research, longitudinal studies can be used to track the progression of diseases over time, identify risk factors for certain conditions, and evaluate the effectiveness of treatments or interventions. For example, a longitudinal study might follow a group of individuals over several decades to assess their exposure to certain environmental factors and their subsequent development of chronic diseases such as cancer or heart disease. By comparing data collected at multiple time points, researchers can identify trends and correlations that may not be apparent in shorter-term studies.

Longitudinal studies have several advantages over other research designs, including their ability to establish temporal relationships between variables, track changes over time, and reduce the impact of confounding factors. However, they also have some limitations, such as the potential for attrition (loss of participants over time), which can introduce bias and affect the validity of the results. Additionally, longitudinal studies can be expensive and time-consuming to conduct, requiring significant resources and a long-term commitment from both researchers and study participants.

Insulin is a hormone produced by the beta cells of the pancreatic islets, primarily in response to elevated levels of glucose in the circulating blood. It plays a crucial role in regulating blood glucose levels and facilitating the uptake and utilization of glucose by peripheral tissues, such as muscle and adipose tissue, for energy production and storage. Insulin also inhibits glucose production in the liver and promotes the storage of excess glucose as glycogen or triglycerides.

Deficiency in insulin secretion or action leads to impaired glucose regulation and can result in conditions such as diabetes mellitus, characterized by chronic hyperglycemia and associated complications. Exogenous insulin is used as a replacement therapy in individuals with diabetes to help manage their blood glucose levels and prevent long-term complications.

BRCA2 is a specific gene that provides instructions for making a protein that helps suppress the growth of cells and plays a crucial role in repairing damaged DNA. Mutations in the BRCA2 gene are known to significantly increase the risk of developing breast cancer, ovarian cancer, and several other types of cancer.

The BRCA2 protein is involved in the process of homologous recombination, which is a type of DNA repair that occurs during cell division. When DNA is damaged, this protein helps to fix the damage by finding a similar sequence on a sister chromatid (a copy of the chromosome) and using it as a template to accurately repair the break.

If the BRCA2 gene is mutated and cannot produce a functional protein, then the cell may not be able to repair damaged DNA effectively. Over time, this can lead to an increased risk of developing cancer due to the accumulation of genetic alterations that cause cells to grow and divide uncontrollably.

It's worth noting that while mutations in the BRCA2 gene are associated with an increased risk of cancer, not everyone who has a mutation will develop cancer. However, those who do develop cancer tend to have an earlier onset and more aggressive form of the disease. Genetic testing can be used to identify mutations in the BRCA2 gene, which can help inform medical management and screening recommendations for individuals and their families.

Blood glucose, also known as blood sugar, is the concentration of glucose in the blood. Glucose is a simple sugar that serves as the main source of energy for the body's cells. It is carried to each cell through the bloodstream and is absorbed into the cells with the help of insulin, a hormone produced by the pancreas.

The normal range for blood glucose levels in humans is typically between 70 and 130 milligrams per deciliter (mg/dL) when fasting, and less than 180 mg/dL after meals. Levels that are consistently higher than this may indicate diabetes or other metabolic disorders.

Blood glucose levels can be measured through a variety of methods, including fingerstick blood tests, continuous glucose monitoring systems, and laboratory tests. Regular monitoring of blood glucose levels is important for people with diabetes to help manage their condition and prevent complications.

Nijmegen Breakage Syndrome (NBS) is a rare autosomal recessive disorder characterized by extreme sensitivity to ionizing radiation, progressive microcephaly, short stature, immunodeficiency, and an increased risk of developing malignancies, particularly lymphoid tumors. The syndrome is caused by mutations in the NBN gene, which encodes a protein called nibrin that plays a critical role in DNA repair and maintenance of genomic stability.

Individuals with NBS typically have microcephaly at birth or develop it in early childhood, accompanied by developmental delay, intellectual disability, and characteristic facial features such as a prominent forehead, recessed jaw, and widely spaced eyes. They may also have skin abnormalities, skeletal anomalies, and hearing loss.

Immunodeficiency is a common feature of NBS, with patients often experiencing recurrent infections due to impaired immune function. They may have low levels of immunoglobulins and T-cell lymphopenia, which can increase their susceptibility to infections.

NBS is associated with an increased risk of malignancies, particularly lymphoid tumors such as B-cell non-Hodgkin lymphoma and leukemia. The risk of cancer increases with age, and most patients develop a malignancy by their mid-20s.

The diagnosis of NBS is typically made based on clinical features, genetic testing, and confirmation of biallelic mutations in the NBN gene. Treatment may involve management of infections, immunoglobulin replacement therapy, and chemotherapy or radiation therapy for malignancies. However, these treatments can be challenging due to the increased sensitivity to ionizing radiation and potential toxicity of chemotherapeutic agents.

Overall, NBS is a rare but serious disorder that requires multidisciplinary care from specialists in genetics, immunology, oncology, and other fields.

Fanconi anemia (FA) is a genetic disorder characterized by various developmental abnormalities, bone marrow failure, and increased risk of malignancies. It is caused by mutations in genes involved in the FA complementation group, which are responsible for repairing damaged DNA.

The FA complementation group proteins include FANCA, FANCB, FANCC, FANCD1/BRCA2, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ/BRIP1, FANCL, FANCM, and FAAP100. These proteins work together to form the FA core complex, which is responsible for monoubiquitinating FANCD2 and FANCI in response to DNA damage. This modification allows for the recruitment of downstream effectors that facilitate DNA repair and maintain genomic stability.

Defects in any of these FA complementation group proteins can lead to Fanconi anemia, with varying clinical manifestations depending on the specific gene involved and the severity of the mutation.

Tumor suppressor proteins are a type of regulatory protein that helps control the cell cycle and prevent cells from dividing and growing in an uncontrolled manner. They work to inhibit tumor growth by preventing the formation of tumors or slowing down their progression. These proteins can repair damaged DNA, regulate gene expression, and initiate programmed cell death (apoptosis) if the damage is too severe for repair.

Mutations in tumor suppressor genes, which provide the code for these proteins, can lead to a decrease or loss of function in the resulting protein. This can result in uncontrolled cell growth and division, leading to the formation of tumors and cancer. Examples of tumor suppressor proteins include p53, Rb (retinoblastoma), and BRCA1/2.

Neurofibromatoses are a group of genetic disorders that primarily affect the nervous system. The term "neurofibromatosis" is often used to refer to two specific conditions: neurofibromatosis type 1 (NF1) and neurofibromatosis type 2 (NF2). These conditions are characterized by the growth of tumors on the nerves, called neurofibromas.

Neurofibromatosis type 1 (NF1): This is the most common form of neurofibromatosis, affecting about 1 in every 3,000 people worldwide. NF1 is caused by mutations in the NF1 gene and is characterized by the development of benign tumors on the nerves called neurofibromas. These tumors can develop anywhere on the body, including the skin, spinal cord, and brain. Other common features of NF1 include:

* Freckles in the underarms and groin area
* Lisch nodules (small, noncancerous growths) on the iris of the eye
* Bone abnormalities, such as scoliosis or bowing of the legs
* Learning disabilities or cognitive impairment

Neurofibromatosis type 2 (NF2): This form of neurofibromatosis is much rarer than NF1, affecting about 1 in every 30,000 people worldwide. NF2 is caused by mutations in the NF2 gene and is characterized by the development of benign tumors on the nerves that transmit sound from the inner ear to the brain (acoustic neuromas). These tumors can cause hearing loss, ringing in the ears, and balance problems. Other common features of NF2 include:

* Multiple schwannomas (tumors that develop on the protective covering of the nerves)
* Meningiomas (tumors that develop in the membranes surrounding the brain and spinal cord)
* Skin tumors called neurofibromas, although these are less common than in NF1

It is important to note that while neurofibromatoses can cause a range of symptoms and complications, most people with these conditions have a normal lifespan. With proper medical care and monitoring, it is possible to manage the symptoms and reduce the risk of complications.

Werner Syndrome is a rare, autosomal recessive genetic disorder characterized by the appearance of premature aging. It's often referred to as "progeria of the adult" or "adult progeria." The syndrome is caused by mutations in the WRN gene, which provides instructions for making a protein involved in repairing damaged DNA and maintaining the stability of the genetic information.

The symptoms typically begin in a person's late teens or early twenties and may include:
- Short stature
- Premature graying and loss of hair
- Skin changes, such as scleroderma (a thickening and hardening of the skin) and ulcers
- Voice changes
- Type 2 diabetes
- Cataracts
- Atherosclerosis (the buildup of fats, cholesterol, and other substances in and on the artery walls)
- Increased risk of cancer

The life expectancy of individuals with Werner Syndrome is typically around 45 to 50 years. It's important to note that while there are similarities between Werner Syndrome and other forms of progeria, such as Hutchinson-Gilford Progeria Syndrome, they are distinct conditions with different genetic causes and clinical features.

Basal Cell Nevus Syndrome (BCNS), also known as Gorlin-Goltz Syndrome, is a rare genetic disorder that is characterized by the development of multiple basal cell carcinomas (BCCs), which are skin cancer tumors that arise from the basal cells in the outermost layer of the skin.

The syndrome is caused by mutations in the PTCH1 gene, which regulates the hedgehog signaling pathway involved in embryonic development and tissue growth regulation. The condition is inherited in an autosomal dominant manner, meaning that a child has a 50% chance of inheriting the mutated gene from an affected parent.

Individuals with BCNS typically develop hundreds to thousands of BCCs over their lifetime, often beginning in childhood or adolescence. They may also have other benign and malignant tumors, such as medulloblastomas (brain tumors), fibromas, and rhabdomyosarcomas.

Additional features of BCNS can include:

1. Facial abnormalities, such as a broad nasal bridge, widely spaced eyes, and pits or depressions on the palms and soles.
2. Skeletal abnormalities, such as spine deformities, rib anomalies, and jaw cysts.
3. Developmental delays and intellectual disabilities in some cases.
4. Increased risk of other cancers, including breast, ovarian, and lung cancer.

Early detection and management of BCCs and other tumors are crucial for individuals with BCNS to prevent complications and improve their quality of life. Regular dermatological examinations, sun protection measures, and surgical removal of tumors are common treatment approaches.

DNA helicases are a group of enzymes that are responsible for separating the two strands of DNA during processes such as replication and transcription. They do this by unwinding the double helix structure of DNA, using energy from ATP to break the hydrogen bonds between the base pairs. This allows other proteins to access the individual strands of DNA and carry out functions such as copying the genetic code or transcribing it into RNA.

During replication, DNA helicases help to create a replication fork, where the two strands of DNA are separated and new complementary strands are synthesized. In transcription, DNA helicases help to unwind the DNA double helix at the promoter region, allowing the RNA polymerase enzyme to bind and begin transcribing the DNA into RNA.

DNA helicases play a crucial role in maintaining the integrity of the genetic code and are essential for the normal functioning of cells. Defects in DNA helicases have been linked to various diseases, including cancer and neurological disorders.

MutS Homolog 2 (MSH2) Protein is a type of protein involved in the DNA repair process in cells. It is a member of the MutS family of proteins, which are responsible for identifying and correcting mistakes that occur during DNA replication. MSH2 forms a complex with another MutS homolog, MSH6, and this complex plays a crucial role in recognizing and binding to mismatched base pairs in the DNA. Once bound, the complex recruits other proteins to repair the damage and restore the integrity of the DNA. Defects in the MSH2 gene have been linked to an increased risk of certain types of cancer, including hereditary non-polyposis colorectal cancer (HNPCC) and uterine cancer.

Ataxia telangiectasia mutated (ATM) proteins are a type of protein that play a crucial role in the maintenance and repair of DNA in cells. The ATM gene produces these proteins, which are involved in several important cellular processes such as:

1. DNA damage response: When DNA is damaged, ATM proteins help to detect and respond to the damage by activating various signaling pathways that lead to DNA repair or apoptosis (programmed cell death) if the damage is too severe.
2. Cell cycle regulation: ATM proteins regulate the cell cycle by controlling checkpoints that ensure proper DNA replication and division. This helps prevent the propagation of cells with damaged DNA.
3. Telomere maintenance: ATM proteins help maintain telomeres, which are the protective caps at the ends of chromosomes. Telomeres shorten as cells divide, and when they become too short, cells can no longer divide and enter a state of senescence or die.

Mutations in the ATM gene can lead to Ataxia-telangiectasia (A-T), a rare inherited disorder characterized by neurological problems, immune system dysfunction, increased risk of cancer, and sensitivity to ionizing radiation. People with A-T have defective ATM proteins that cannot properly respond to DNA damage, leading to genomic instability and increased susceptibility to disease.

Beckwith-Wiedemann syndrome (BWS) is a genetic overgrowth disorder that affects several parts of the body. It is characterized by an increased risk of developing certain tumors, especially during the first few years of life. The symptoms and features of BWS can vary widely among affected individuals.

The medical definition of Beckwith-Wiedemann syndrome includes the following major criteria:

1. Excessive growth before birth (macrosomia) or in infancy (infantile gigantism)
2. Enlargement of the tongue (macroglossia)
3. Abdominal wall defects, such as an omphalocele (protrusion of abdominal organs through the belly button) or a diastasis recti (separation of the abdominal muscles)
4. Enlargement of specific internal organs, like the kidneys, liver, or pancreas
5. A distinctive facial appearance, which may include ear creases or pits, wide-set eyes, and a prominent jaw

Additional findings in BWS can include:

1. Increased risk of developing embryonal tumors, such as Wilms tumor (a type of kidney cancer), hepatoblastoma (a liver cancer), and neuroblastoma (a nerve tissue cancer)
2. Hypoglycemia (low blood sugar) in infancy due to hyperinsulinism (overproduction of insulin)
3. Asymmetric growth, where one side of the body or a specific region is significantly larger than the other
4. Ear abnormalities, such as cupped ears or low-set ears
5. Developmental delays and learning disabilities in some cases

Beckwith-Wiedemann syndrome is caused by changes in the chromosome 11p15 region, which contains several genes that regulate growth and development. The most common cause of BWS is an epigenetic abnormality called paternal uniparental disomy (UPD), where both copies of this region come from the father instead of one copy from each parent. Other genetic mechanisms, such as mutations in specific genes or imprinting center defects, can also lead to BWS.

The diagnosis of Beckwith-Wiedemann syndrome is typically based on clinical findings and confirmed by molecular testing. Management includes regular monitoring for tumor development, controlling hypoglycemia, and addressing any other complications as needed. Surgical intervention may be required in cases of organ enlargement or structural abnormalities. Genetic counseling is recommended for affected individuals and their families to discuss the risks of recurrence and available reproductive options.

HLA-DR serological subtyping refers to the identification and classification of specific variants or subtypes of the human leukocyte antigen (HLA) class II DR antigens based on their reactivity with a panel of antibodies in serological assays. HLAs are cell surface proteins that play a crucial role in the immune system by presenting peptide antigens to T-cells. The HLA-DR molecules are involved in the presentation of foreign antigens, such as viruses and bacteria, to the immune system.

The serological subtyping of HLA-DR antigens is performed using a panel of antibodies with known specificity for different HLA-DR epitopes. The reactivity of an individual's HLA-DR antigens with these antibodies allows for the determination of their HLA-DR serological subtype. This information can be useful in various clinical settings, such as histocompatibility testing for organ transplantation and the diagnosis of certain autoimmune diseases.

It is important to note that HLA-DR serological subtyping has largely been replaced by molecular typing methods, which provide more precise and detailed information about HLA alleles. Molecular typing involves the direct sequencing or genotyping of HLA genes, allowing for the identification of specific HLA alleles and their associated amino acid sequences.

Neurofibromatosis 1 (NF1) is a genetic disorder that affects the development and growth of nerve tissue. It's also known as von Recklinghausen disease. NF1 is characterized by the growth of non-cancerous tumors on the nerves, as well as skin and bone abnormalities.

The symptoms of Neurofibromatosis 1 can vary widely, even among members of the same family. Some common features include:

* Multiple café au lait spots (flat, light brown patches on the skin)
* Freckles in the underarms and groin area
* Benign growths on or under the skin called neurofibromas
* Larger, more complex tumors called plexiform neurofibromas
* Optic gliomas (tumors that form on the optic nerve)
* Distinctive bone abnormalities, such as a curved spine (scoliosis) or an enlarged head (macrocephaly)
* Learning disabilities and behavioral problems

Neurofibromatosis 1 is caused by mutations in the NF1 gene, which provides instructions for making a protein called neurofibromin. This protein helps regulate cell growth and division. When the NF1 gene is mutated, the production of neurofibromin is reduced or absent, leading to uncontrolled cell growth and the development of tumors.

NF1 is an autosomal dominant disorder, which means that a person has a 50% chance of inheriting the mutated gene from an affected parent. However, about half of all cases are the result of new mutations in the NF1 gene, and occur in people with no family history of the disorder.

There is currently no cure for Neurofibromatosis 1, but treatments are available to manage the symptoms and complications of the disease. These may include medications to control pain or reduce the size of tumors, surgery to remove tumors or correct bone abnormalities, and physical therapy to improve mobility and strength. Regular monitoring by a healthcare team experienced in treating Neurofibromatosis 1 is also important to detect any changes in the condition and provide appropriate care.

Hereditary Breast and Ovarian Cancer Syndrome (HBOC) is a genetic condition caused by variants in the BRCA1 and BRCA2 genes, among others. These gene mutations increase the risk of developing breast cancer, ovarian cancer, and several other types of cancer.

In HBOC, an individual has a 50-85% chance of developing breast cancer and a 10-40% chance of developing ovarian cancer by age 70. Men with HBOC also have an increased risk of breast cancer, prostate cancer, and pancreatic cancer. The syndrome can be passed down through generations in families, with each child of an affected parent having a 50% chance of inheriting the mutated gene. Genetic testing is available to identify individuals who carry these mutations and help guide their medical management.

A missense mutation is a type of point mutation in which a single nucleotide change results in the substitution of a different amino acid in the protein that is encoded by the affected gene. This occurs when the altered codon (a sequence of three nucleotides that corresponds to a specific amino acid) specifies a different amino acid than the original one. The function and/or stability of the resulting protein may be affected, depending on the type and location of the missense mutation. Missense mutations can have various effects, ranging from benign to severe, depending on the importance of the changed amino acid for the protein's structure or function.

Genomic instability is a term used in genetics and molecular biology to describe a state of increased susceptibility to genetic changes or mutations in the genome. It can be defined as a condition where the integrity and stability of the genome are compromised, leading to an increased rate of DNA alterations such as point mutations, insertions, deletions, and chromosomal rearrangements.

Genomic instability is a hallmark of cancer cells and can also be observed in various other diseases, including genetic disorders and aging. It can arise due to defects in the DNA repair mechanisms, telomere maintenance, epigenetic regulation, or chromosome segregation during cell division. These defects can result from inherited genetic mutations, acquired somatic mutations, exposure to environmental mutagens, or age-related degenerative changes.

Genomic instability is a significant factor in the development and progression of cancer as it promotes the accumulation of oncogenic mutations that contribute to tumor initiation, growth, and metastasis. Therefore, understanding the mechanisms underlying genomic instability is crucial for developing effective strategies for cancer prevention, diagnosis, and treatment.

Retinoblastoma is a rare type of eye cancer that primarily affects young children, typically developing in the retina (the light-sensitive tissue at the back of the eye) before the age of 5. This malignancy originates from immature retinal cells called retinoblasts and can occur in one or both eyes (bilateral or unilateral).

There are two main types of Retinoblastoma: heritable and non-heritable. The heritable form is caused by a genetic mutation that can be inherited from a parent or may occur spontaneously during embryonic development. This type often affects both eyes and has an increased risk of developing other cancers. Non-heritable Retinoblastoma, on the other hand, occurs due to somatic mutations (acquired during life) that affect only the retinal cells in one eye.

Symptoms of Retinoblastoma may include a white pupil or glow in photographs, crossed eyes, strabismus (misalignment of the eyes), poor vision, redness, or swelling in the eye. Treatment options depend on various factors such as the stage and location of the tumor(s), patient's age, and overall health. These treatments may include chemotherapy, radiation therapy, laser therapy, cryotherapy (freezing), thermotherapy (heating), or enucleation (removal of the affected eye) in advanced cases.

Early detection and prompt treatment are crucial for improving the prognosis and preserving vision in children with Retinoblastoma. Regular eye examinations by a pediatric ophthalmologist or oncologist are recommended to monitor any changes and ensure timely intervention if necessary.

I'm sorry for any confusion, but "Jews" is not a medical term. It is a term used to describe a group of people who share cultural, religious, and ethnic heritage. The Jewish people originated from the ancient kingdoms of Israel and Judah. They are bound together by their religion, Judaism, which is based on the Torah, or the five books of Moses.

If you have any medical questions or terms that you would like defined, I'd be happy to help!

DNA damage refers to any alteration in the structure or composition of deoxyribonucleic acid (DNA), which is the genetic material present in cells. DNA damage can result from various internal and external factors, including environmental exposures such as ultraviolet radiation, tobacco smoke, and certain chemicals, as well as normal cellular processes such as replication and oxidative metabolism.

Examples of DNA damage include base modifications, base deletions or insertions, single-strand breaks, double-strand breaks, and crosslinks between the two strands of the DNA helix. These types of damage can lead to mutations, genomic instability, and chromosomal aberrations, which can contribute to the development of diseases such as cancer, neurodegenerative disorders, and aging-related conditions.

The body has several mechanisms for repairing DNA damage, including base excision repair, nucleotide excision repair, mismatch repair, and double-strand break repair. However, if the damage is too extensive or the repair mechanisms are impaired, the cell may undergo apoptosis (programmed cell death) to prevent the propagation of potentially harmful mutations.

Fanconi anemia complementation group C protein, also known as FANCC protein, is a component of the Fanconi anemia (FA) DNA repair pathway. This protein plays a critical role in protecting cells from oxidative stress and maintaining genomic stability. Mutations in the FANCC gene can lead to Fanconi anemia, a rare genetic disorder characterized by bone marrow failure, congenital abnormalities, and increased risk of cancer.

FANCC protein functions as part of a complex that includes other FA proteins, which work together to repair DNA damage caused by interstrand crosslinks (ICLs) - a type of DNA lesion that can lead to genomic instability and cancer. When the FA pathway is activated in response to ICLs, FANCC protein undergoes monoubiquitination, which allows it to interact with other proteins involved in DNA repair and chromatin remodeling.

Defects in the FANCC protein can result in impaired DNA repair and increased sensitivity to DNA-damaging agents, leading to the characteristic features of Fanconi anemia. Additionally, mutations in the FANCC gene have been associated with an increased risk of developing acute myeloid leukemia (AML) and other cancers.

Wilms tumor, also known as nephroblastoma, is a type of kidney cancer that primarily affects children. It occurs in the cells of the developing kidneys and is named after Dr. Max Wilms, who first described this type of tumor in 1899. Wilms tumor typically develops before the age of 5, with most cases occurring in children under the age of 3.

The medical definition of Wilms tumor is:

A malignant, embryonal kidney tumor originating from the metanephric blastema, which is a mass of undifferentiated cells in the developing kidney. Wilms tumor is characterized by its rapid growth and potential for spread (metastasis) to other parts of the body, particularly the lungs and liver. The tumor usually presents as a large, firm, and irregular mass in the abdomen, and it may be associated with various symptoms such as abdominal pain, swelling, or blood in the urine.

Wilms tumor is typically treated with a combination of surgery, chemotherapy, and radiation therapy. The prognosis for children with Wilms tumor has improved significantly over the past few decades due to advances in treatment methods and early detection.

Genetic counseling is a process of communication and education between a healthcare professional and an individual or family, aimed at understanding, adapting to, and managing the medical, psychological, and familial implications of genetic contributions to disease. This includes providing information about the risk of inherited conditions, explaining the implications of test results, discussing reproductive options, and offering support and resources for coping with a genetic condition. Genetic counselors are trained healthcare professionals who specialize in helping people understand genetic information and its impact on their health and lives.

Nuclear proteins are a category of proteins that are primarily found in the nucleus of a eukaryotic cell. They play crucial roles in various nuclear functions, such as DNA replication, transcription, repair, and RNA processing. This group includes structural proteins like lamins, which form the nuclear lamina, and regulatory proteins, such as histones and transcription factors, that are involved in gene expression. Nuclear localization signals (NLS) often help target these proteins to the nucleus by interacting with importin proteins during active transport across the nuclear membrane.

The term "DNA, neoplasm" is not a standard medical term or concept. DNA refers to deoxyribonucleic acid, which is the genetic material present in the cells of living organisms. A neoplasm, on the other hand, is a tumor or growth of abnormal tissue that can be benign (non-cancerous) or malignant (cancerous).

In some contexts, "DNA, neoplasm" may refer to genetic alterations found in cancer cells. These genetic changes can include mutations, amplifications, deletions, or rearrangements of DNA sequences that contribute to the development and progression of cancer. Identifying these genetic abnormalities can help doctors diagnose and treat certain types of cancer more effectively.

However, it's important to note that "DNA, neoplasm" is not a term that would typically be used in medical reports or research papers without further clarification. If you have any specific questions about DNA changes in cancer cells or neoplasms, I would recommend consulting with a healthcare professional or conducting further research on the topic.

Protein-Serine-Threonine Kinases (PSTKs) are a type of protein kinase that catalyzes the transfer of a phosphate group from ATP to the hydroxyl side chains of serine or threonine residues on target proteins. This phosphorylation process plays a crucial role in various cellular signaling pathways, including regulation of metabolism, gene expression, cell cycle progression, and apoptosis. PSTKs are involved in many physiological and pathological processes, and their dysregulation has been implicated in several diseases, such as cancer, diabetes, and neurodegenerative disorders.

Tumor suppressor genes are a type of gene that helps to regulate and prevent cells from growing and dividing too rapidly or in an uncontrolled manner. They play a critical role in preventing the formation of tumors and cancer. When functioning properly, tumor suppressor genes help to repair damaged DNA, control the cell cycle, and trigger programmed cell death (apoptosis) when necessary. However, when these genes are mutated or altered, they can lose their ability to function correctly, leading to uncontrolled cell growth and the development of tumors. Examples of tumor suppressor genes include TP53, BRCA1, and BRCA2.

Cell cycle proteins are a group of regulatory proteins that control the progression of the cell cycle, which is the series of events that take place in a eukaryotic cell leading to its division and duplication. These proteins can be classified into several categories based on their functions during different stages of the cell cycle.

The major groups of cell cycle proteins include:

1. Cyclin-dependent kinases (CDKs): CDKs are serine/threonine protein kinases that regulate key transitions in the cell cycle. They require binding to a regulatory subunit called cyclin to become active. Different CDK-cyclin complexes are activated at different stages of the cell cycle.
2. Cyclins: Cyclins are a family of regulatory proteins that bind and activate CDKs. Their levels fluctuate throughout the cell cycle, with specific cyclins expressed during particular phases. For example, cyclin D is important for the G1 to S phase transition, while cyclin B is required for the G2 to M phase transition.
3. CDK inhibitors (CKIs): CKIs are regulatory proteins that bind to and inhibit CDKs, thereby preventing their activation. CKIs can be divided into two main families: the INK4 family and the Cip/Kip family. INK4 family members specifically inhibit CDK4 and CDK6, while Cip/Kip family members inhibit a broader range of CDKs.
4. Anaphase-promoting complex/cyclosome (APC/C): APC/C is an E3 ubiquitin ligase that targets specific proteins for degradation by the 26S proteasome. During the cell cycle, APC/C regulates the metaphase to anaphase transition and the exit from mitosis by targeting securin and cyclin B for degradation.
5. Other regulatory proteins: Several other proteins play crucial roles in regulating the cell cycle, such as p53, a transcription factor that responds to DNA damage and arrests the cell cycle, and the polo-like kinases (PLKs), which are involved in various aspects of mitosis.

Overall, cell cycle proteins work together to ensure the proper progression of the cell cycle, maintain genomic stability, and prevent uncontrolled cell growth, which can lead to cancer.

Loss of Heterozygosity (LOH) is a term used in genetics to describe the loss of one copy of a gene or a segment of a chromosome, where there was previously a pair of different genes or chromosomal segments (heterozygous). This can occur due to various genetic events such as mutation, deletion, or mitotic recombination.

LOH is often associated with the development of cancer, as it can lead to the loss of tumor suppressor genes, which normally help to regulate cell growth and division. When both copies of a tumor suppressor gene are lost or inactivated, it can result in uncontrolled cell growth and the formation of a tumor.

In medical terms, LOH is used as a biomarker for cancer susceptibility, progression, and prognosis. It can also be used to identify individuals who may be at increased risk for certain types of cancer, or to monitor patients for signs of cancer recurrence.

DNA mismatch repair (MMR) is a cellular process that helps to correct errors that occur during DNA replication and recombination. This mechanism plays a critical role in maintaining the stability of the genome by reducing the rate of mutations.

The MMR system recognizes and repairs base-base mismatches and small insertions or deletions (indels) that can arise due to slippage of DNA polymerase during replication. The process involves several proteins, including MutSα or MutSβ, which recognize the mismatch, and MutLα, which acts as a endonuclease to cleave the DNA near the mismatch. Excision of the mismatched region is then carried out by exonucleases, followed by resynthesis of the repaired strand using the correct template.

Defects in MMR genes have been linked to various human diseases, including hereditary nonpolyposis colorectal cancer (HNPCC) and other types of cancer. In HNPCC, mutations in MMR genes lead to an accumulation of mutations in critical genes, which can ultimately result in the development of cancer.

Ovarian neoplasms refer to abnormal growths or tumors in the ovary, which can be benign (non-cancerous) or malignant (cancerous). These growths can originate from various cell types within the ovary, including epithelial cells, germ cells, and stromal cells. Ovarian neoplasms are often classified based on their cell type of origin, histological features, and potential for invasive or metastatic behavior.

Epithelial ovarian neoplasms are the most common type and can be further categorized into several subtypes, such as serous, mucinous, endometrioid, clear cell, and Brenner tumors. Some of these epithelial tumors have a higher risk of becoming malignant and spreading to other parts of the body.

Germ cell ovarian neoplasms arise from the cells that give rise to eggs (oocytes) and can include teratomas, dysgerminomas, yolk sac tumors, and embryonal carcinomas. Stromal ovarian neoplasms develop from the connective tissue cells supporting the ovary and can include granulosa cell tumors, thecomas, and fibromas.

It is essential to diagnose and treat ovarian neoplasms promptly, as some malignant forms can be aggressive and potentially life-threatening if not managed appropriately. Regular gynecological exams, imaging studies, and tumor marker tests are often used for early detection and monitoring of ovarian neoplasms. Treatment options may include surgery, chemotherapy, or radiation therapy, depending on the type, stage, and patient's overall health condition.

Fanconi anemia complementation group E protein, also known as FANCE protein, is a crucial component of the Fanconi anemia (FA) pathway, which is a DNA repair mechanism that helps to maintain genomic stability. The FA pathway is responsible for the repair of interstrand crosslinks (ICLs), a type of DNA damage that can lead to cell death or tumorigenesis if not properly repaired.

The FANCE protein is part of the E complex, which includes several other proteins including FANCA, FANCC, and FANCE. This complex plays a role in recognizing and initiating the repair of ICLs. Specifically, FANCE helps to recruit other FA proteins to the site of DNA damage and facilitates their assembly into a larger protein complex that can carry out the repair process.

Mutations in the gene that encodes the FANCE protein can lead to Fanconi anemia, a rare genetic disorder characterized by bone marrow failure, congenital abnormalities, and an increased risk of cancer. Individuals with FA often require frequent blood transfusions and may eventually need a bone marrow transplant to survive. They also have an increased risk of developing various types of cancer, including leukemia and solid tumors.

The Church of Jesus Christ of Latter-day Saints (LDS Church) is a religious organization that traces its origins to the United States in the early 19th century. It is often referred to as the Mormon Church, although this term is not preferred by the church itself. The LDS Church has a unique theology and doctrine, which includes belief in the Book of Mormon as scripture alongside the Bible, as well as other distinctive teachings about God, Jesus Christ, and human nature and potential.

The church places a strong emphasis on family values, community service, and missionary work. Members of the LDS Church are known for their commitment to living a healthy lifestyle, including abstaining from alcohol, tobacco, and illicit drugs. They also practice baptism by immersion and believe in the importance of temple worship and sacred ordinances.

The LDS Church is organized hierarchically, with a prophet and president serving as the highest authority. The church has a global presence, with millions of members around the world and congregations in many countries. It operates various programs and institutions, including schools, universities, humanitarian aid organizations, and publishing companies.

The exome is the part of the genome that contains all the protein-coding regions. It represents less than 2% of the human genome but accounts for about 85% of disease-causing mutations. Exome sequencing, therefore, is a cost-effective and efficient method to identify genetic variants associated with various diseases, including cancer, neurological disorders, and inherited genetic conditions.

Fanconi anemia (FA) is a rare genetic disorder characterized by bone marrow failure, congenital abnormalities, and increased risk of malignancies. It is caused by mutations in genes responsible for the repair of DNA damage. There are several complementation groups (A, B, C, D1, D2, E, F, G, I, J, L, M, N, O, P) in Fanconi anemia, based on the genetic defect and the protein it affects.

FA Complementation Group G Protein is also known as FANCG protein or FACA protein. It is a component of the FA/BRCA DNA repair pathway, which plays a crucial role in maintaining genomic stability by repairing DNA interstrand crosslinks (ICLs) and other forms of DNA damage. The FANCG protein functions as a bridge between the upstream FA complex and the downstream FANCD2/FANCI complex in this pathway.

Mutations in the FANCG gene can lead to Fanconi anemia Complementation Group G, which is characterized by bone marrow failure, congenital abnormalities, and increased risk of malignancies, similar to other FA complementation groups. The diagnosis of FA Complementation Group G typically involves genetic testing to identify mutations in the FANCG gene. Treatment may include hematopoietic stem cell transplantation, androgen therapy, and surveillance for malignancies.

Gene deletion is a type of mutation where a segment of DNA, containing one or more genes, is permanently lost or removed from a chromosome. This can occur due to various genetic mechanisms such as homologous recombination, non-homologous end joining, or other types of genomic rearrangements.

The deletion of a gene can have varying effects on the organism, depending on the function of the deleted gene and its importance for normal physiological processes. If the deleted gene is essential for survival, the deletion may result in embryonic lethality or developmental abnormalities. However, if the gene is non-essential or has redundant functions, the deletion may not have any noticeable effects on the organism's phenotype.

Gene deletions can also be used as a tool in genetic research to study the function of specific genes and their role in various biological processes. For example, researchers may use gene deletion techniques to create genetically modified animal models to investigate the impact of gene deletion on disease progression or development.

DNA repair enzymes are a group of enzymes that are responsible for identifying and correcting damage to the DNA molecule. These enzymes play a critical role in maintaining the integrity of an organism's genetic material, as they help to ensure that the information stored in DNA is accurately transmitted during cell division and reproduction.

There are several different types of DNA repair enzymes, each responsible for correcting specific types of damage. For example, base excision repair enzymes remove and replace damaged or incorrect bases, while nucleotide excision repair enzymes remove larger sections of damaged DNA and replace them with new nucleotides. Other types of DNA repair enzymes include mismatch repair enzymes, which correct errors that occur during DNA replication, and double-strand break repair enzymes, which are responsible for fixing breaks in both strands of the DNA molecule.

Defects in DNA repair enzymes have been linked to a variety of diseases, including cancer, neurological disorders, and premature aging. For example, individuals with xeroderma pigmentosum, a rare genetic disorder characterized by an increased risk of skin cancer, have mutations in genes that encode nucleotide excision repair enzymes. Similarly, defects in mismatch repair enzymes have been linked to hereditary nonpolyposis colorectal cancer, a type of colon cancer that is inherited and tends to occur at a younger age than sporadic colon cancer.

Overall, DNA repair enzymes play a critical role in maintaining the stability and integrity of an organism's genetic material, and defects in these enzymes can have serious consequences for human health.

p16, also known as CDKN2A, is a tumor suppressor gene that encodes the protein p16INK4a. This protein plays a crucial role in regulating the cell cycle by inhibiting the activity of cyclin-dependent kinases (CDKs) 4 and 6, which are essential for the progression from G1 to S phase.

The p16 gene is located on chromosome 9p21 and is often inactivated or deleted in various types of cancer, including lung, breast, and head and neck cancers. Inactivation of the p16 gene leads to uncontrolled cell growth and division, which can contribute to tumor development and progression.

Therefore, the p16 gene is an important tumor suppressor gene that helps prevent cancer by regulating cell growth and division.

APC (Adenomatous Polyposis Coli) gene is a tumor suppressor gene that provides instructions for making a protein called adenomatous polyposis coli. This protein plays a crucial role in regulating the growth and division of cells in the colon and rectum. Specifically, it helps to maintain the stability of the cell's genetic material (DNA) by controlling the process of beta-catenin degradation.

When the APC gene is mutated or altered, it can lead to an accumulation of beta-catenin in the cell, which can result in uncontrolled cell growth and division. This can ultimately lead to the development of colon polyps, which are benign growths that can become cancerous over time if left untreated.

Mutations in the APC gene are associated with several inherited cancer syndromes, including familial adenomatous polyposis (FAP) and attenuated FAP (AFAP). These conditions are characterized by the development of numerous colon polyps at a young age, which can increase the risk of developing colorectal cancer.

Costello Syndrome is a rare genetic disorder characterized by distinctive facial features, cardiac defects, developmental delay, and intellectual disability. It is caused by mutations in the HRAS gene, which provides instructions for making a protein that is part of a signaling pathway known as the Ras/MAPK pathway, involved in cell growth, division, and survival.

The symptoms of Costello Syndrome can vary widely among affected individuals, but common features include:

* A characteristic facial appearance with full cheeks, wide-spaced eyes, a broad nasal bridge, and a prominent forehead
* Loose, wrinkled skin around the hands and feet
* Curved pinky fingers (clinodactyly)
* Extra skin on the soles of the feet (plantar keratosis)
* Heart defects, such as hypertrophic cardiomyopathy or pulmonary stenosis
* Developmental delay and intellectual disability
* A predisposition to developing certain types of cancer, particularly rhabdomyosarcoma and bladder carcinoma

Costello Syndrome is typically diagnosed based on a combination of clinical features, genetic testing, and family history. There is no cure for the condition, but management is focused on addressing individual symptoms as they arise. This may include medications to manage heart problems, physical therapy to help with developmental delays, and regular cancer screening.

Genetic heterogeneity is a phenomenon in genetics where different genetic variations or mutations in various genes can result in the same or similar phenotypic characteristics, disorders, or diseases. This means that multiple genetic alterations can lead to the same clinical presentation, making it challenging to identify the specific genetic cause based on the observed symptoms alone.

There are two main types of genetic heterogeneity:

1. Allelic heterogeneity: Different mutations in the same gene can cause the same or similar disorders. For example, various mutations in the CFTR gene can lead to cystic fibrosis, a genetic disorder affecting the respiratory and digestive systems.
2. Locus heterogeneity: Mutations in different genes can result in the same or similar disorders. For instance, mutations in several genes, such as BRCA1, BRCA2, and PALB2, are associated with an increased risk of developing breast cancer.

Genetic heterogeneity is essential to consider when diagnosing genetic conditions, evaluating recurrence risks, and providing genetic counseling. It highlights the importance of comprehensive genetic testing and interpretation for accurate diagnosis and appropriate management of genetic disorders.

I am not a doctor, but I can provide some information about chrysanthemums. Chrysanthemums are flowering plants that belong to the genus Chrysanthemum in the family Asteraceae. They are native to Asia and northeastern Europe and are particularly significant in East Asian cultures.

Chrysanthemums have been cultivated for centuries for their beautiful flowers, which come in a variety of colors including white, yellow, red, and purple. In some countries, chrysanthemums are considered symbolic of death and are used in funerals or on graves, while in others they represent life, joy, and longevity.

While chrysanthemums do not have a direct medical definition, some parts of the plant have been used in traditional medicine in various cultures. For example, chrysanthemum flowers are sometimes used to make teas that are believed to help with headaches, fever, and inflammation. However, it is important to note that the effectiveness of these remedies has not been scientifically proven, and chrysanthemums can cause allergic reactions or other adverse effects in some people. Therefore, it is always recommended to consult with a healthcare professional before using any herbal remedies.

A base pair mismatch is a type of mutation that occurs during the replication or repair of DNA, where two incompatible nucleotides pair up instead of the usual complementary bases (adenine-thymine or cytosine-guanine). This can result in the substitution of one base pair for another and may lead to changes in the genetic code, potentially causing errors in protein synthesis and possibly contributing to genetic disorders or diseases, including cancer.

A neoplasm is a tumor or growth that is formed by an abnormal and excessive proliferation of cells, which can be benign or malignant. Neoplasm proteins are therefore any proteins that are expressed or produced in these neoplastic cells. These proteins can play various roles in the development, progression, and maintenance of neoplasms.

Some neoplasm proteins may contribute to the uncontrolled cell growth and division seen in cancer, such as oncogenic proteins that promote cell cycle progression or inhibit apoptosis (programmed cell death). Others may help the neoplastic cells evade the immune system, allowing them to proliferate undetected. Still others may be involved in angiogenesis, the formation of new blood vessels that supply the tumor with nutrients and oxygen.

Neoplasm proteins can also serve as biomarkers for cancer diagnosis, prognosis, or treatment response. For example, the presence or level of certain neoplasm proteins in biological samples such as blood or tissue may indicate the presence of a specific type of cancer, help predict the likelihood of cancer recurrence, or suggest whether a particular therapy will be effective.

Overall, understanding the roles and behaviors of neoplasm proteins can provide valuable insights into the biology of cancer and inform the development of new diagnostic and therapeutic strategies.

In medicine, genetic susceptibility to a disease refers to a genetic predisposition to a health problem, which may eventually ... Behaviors displayed by animals can be influenced by genetic predispositions. Genetic predisposition towards certain human ... Genetic testing is able to identify individuals who are genetically predisposed to certain diseases. Predisposition is the ... A genetic predisposition is a genetic characteristic which influences the possible phenotypic development of an individual ...
Jordan MA, Field J, Butzkueven H, Baxter AG (2014). "Genetic Predisposition, Humans". The Autoimmune Diseases. pp. 341-364. doi ... Genocopy is a trait that is a phenotypic copy of a genetic trait but is caused by a different genotype. When a genetic mutation ... ISBN 0-7167-4939-4. "What is Mitochondrial Disease?". United Mitochondrial Disease Foundation (UMDF). 14 January 2016. Saneto ... identical Mitochondrial DNA mutations may not show up as identical diseases. Genocopies are often seen as diseases that might ...
Genetic predisposition to cancer 1996. Boston, MA: Springer. pp. 138-151. doi:10.1007/978-1-4899-4501-3_9. ISBN 978-0-412-56580 ... Taylor AM, Hernandez D, McConville CM, Woods CG, Stacey M, Biggs P, Byrd PJ, Arlett CF, Scott D (1996). "Malignant disease and ... nutritional and metabolic disease stubs, Noninfectious immunodeficiency-related cutaneous conditions). ...
The Appaloosa has a higher risk of developing ERU than other breeds; this predisposition has a genetic basis. Appaloosas which ... After an acute flare-up, no clinical signs of disease may be seen for a prolonged period, which can vary from a few hours to a ... If the disease is not properly treated, it will eventually lead to blindness. ERU occurs in horses worldwide, but is more ... Horses that suffer from this disease can never be considered cured, although they can be managed by careful use of the therapy ...
Crowe JE (July 2007). "Genetic predisposition for adverse events after vaccination". The Journal of Infectious Diseases. 196 (2 ... Adverse effects can vary among populations depending on their physical health condition, age, gender and genetic predisposition ... Emergence of genetic engineering techniques revolutionised the creation of vaccines. By the end of the 20th century, ... Because the vaccine doesn't contain "live" components of the pathogen, there is no risk of introducing the disease, and is ...
A genetic predisposition among East Asians is suggested. The disease is more common in males, with the male to female ratio at ... Genetic disorders with OMIM but no gene, Rare diseases, Respiratory diseases). ... Genetic predisposition for DPB susceptibility has been localized to two HLA haplotypes (a nucleotide or gene sequence ... Within this area, the search for a genetic cause of the disease has continued. Because many genes belonging to HLA remain ...
It quotes him as saying, "ADHD is a prime example of a fabricated disease... The genetic predisposition to ADHD is completely ... Eisenberg L, Ascher E and Kanner L. A clinical study of Gilles de la Tourette's disease (maladie des tics) in children. Am J ... He published a forceful critique of Konrad Lorenz's instinct theory and established the usefulness of distinguishing "disease" ... "disease" (what doctors deal with) and "illness" (what patients suffer) A widely cited critique of the oscillation of psychiatry ...
Cerhan JR, Slager SL (November 2015). "Familial predisposition and genetic risk factors for lymphoma". Blood. 126 (20): 2265-73 ... Medical treatments, like radiation therapy and chemotherapy.[citation needed] Genetic diseases, like Klinefelter syndrome, ... Across all subtypes, 5-year survival for NHL is 71%, ranging from 81% for Stage 1 disease to 61% for Stage 4 disease. Globally ... The Centers for Disease Control and Prevention (CDC) included certain types of non-Hodgkin lymphoma as AIDS-defining cancers in ...
Bartee, L., Shriner, W., & Creech, C. (n.d.). Multifactorial disorders and genetic predispositions. Principles of Biology.https ... In the last decade, many studies have been generated data regarding genetic basis of multifactorial diseases. Various ... The disease occurs more commonly in a distinct ethnic group (i.e., Africans, Asians, Caucasians etc.) The diseases may have ... The risk of multifactorial diseases may get increased due to environmental influences. The disease is not sex-limited but it ...
Genetic predisposition plays an important role. If more than one cause is present, progression is more likely and prognosis is ... liver disease, anemia, and thyroid disease. Common causes of heart failure include coronary artery disease, heart attack, high ... "Heart disease facts". US Centers for Disease Control and Prevention. 15 May 2023. Archived from the original on 24 January 2021 ... Aging-associated diseases, Heart diseases, Organ failure, Wikipedia medicine articles ready to translate, Wikipedia emergency ...
Genetic factors are associated with a predisposition to SJS. The cause of SJS is unknown in one-quarter to one-half of cases. ... Restrictive lung disease may develop in patients with SJS and TEN after initial acute pulmonary involvement. Patients with SJS ... Viral diseases reported to cause SJS include: herpes simplex virus (possibly; is debated), AIDS, coxsackievirus, influenza, ... Patients with these disorders frequently experience burning pain of their skin at the start of disease. Ulcers and other ...
The disease is associated with a frameshift mutation in the gene coding for the protein Serpin B11. Genetic predisposition may ... Hoof wall separation disease, (HWSD), is an autosomal recessive genetic hoof disease in horses. Research is being carried out ... The disease has been found in Connemara ponies and was earlier referred to as Hoof Wall Separation Syndrome, HWSS. The disease ... HWSD may be confused with white line disease (onychomycosis) The disease is an autosomal recessive condition, which means that ...
Caesar possibly had a genetic predisposition for cardiovascular disease. Suetonius, writing more than a century after Caesar's ...
assorted factors such as ethnicity, age, or genetic predisposition. If a vaccinated individual does develop the disease ... Vaccines led to the eradication of smallpox, one of the most contagious and deadly diseases in humans. Other diseases such as ... The efficacy or performance of the vaccine is dependent on several factors: the disease itself (for some diseases vaccination ... Vaccinations of animals are used both to prevent their contracting diseases and to prevent transmission of disease to humans. ...
Genetic predisposition is commonly found in early-onset diabetic patients. Diabetes is not a single gene disease, and rare gene ... Sufferers of the disease are consequently more susceptible to chronic health issues, including heart disease and kidney failure ... Cardiovascular disease is the single greatest contributor to the disparity in life expectancy between Aboriginal and non- ... "Prevalence of treated end-stage kidney disease (ESKD) (AIHW)". www.aihw.gov.au. Archived from the original on 3 September 2015 ...
There may be a genetic predisposition to the condition. People who develop OFG often have a history of atopy, such as childhood ... Zbar, AP; Ben-Horin, S; Beer-Gabel, M; Eliakim, R (March 2012). "Oral Crohn's disease: is it a separable disease from orofacial ... Crohn disease can affect any part of gastrointestinal tract, from mouth to anus. When it involves the mouth alone, some authors ... The disease usually presents in adolescence or young adulthood. It may occur in either sex, but males are slightly more ...
Genetic predisposition is also a factor. Since allergies and other chronic inflammatory diseases are largely diseases of the ... Grammatikos, Alexandros P. (8 July 2009). "The genetic and environmental basis of atopic diseases". Annals of Medicine. 40 (7 ... Antibacterial soap Antifragility Diseases of affluence Germ theory of disease Helminthic therapy Hookworm Human microbiome ... Without that stimuli it becomes more susceptible to autoimmune diseases and allergic diseases, because of insufficiently ...
It is believed that acne aestivalis has a genetic predisposition involved in which people who show acne aestivalis have lower ... This disease was first noticed in Scandinavian men and women between the ages of 20 and 40 years old. The skin eruption would ... Hypersensitivity to the sun may be experienced due to genetic predisposition. It is also speculated that cosmetics and sun care ... The actual mechanism of disease is not very well understood but there are a few speculations. ...
Genetic factors may create a predisposition towards developing these autoimmune diseases. They are characterized as a group by ... Marfan syndrome - a genetic disease causing abnormal fibrillin. Ehlers-Danlos syndromes - a heterogeneous group of disorders ... These are also referred to as systemic autoimmune diseases. The autoimmune CTDs may have both genetic and environmental causes ... Herati, Amin S.; Pastuszak, Alexander W. (2016-01-01). "The Genetic Basis of Peyronie's Disease: A Review". Sexual Medicine ...
St George-Hyslop, P. H. (2006). "Genetic Factors in the Genesis of Alzheimer's Disease". Annals of the New York Academy of ... Mailis, A; Wade, J (1994). "Profile of Caucasian women with possible genetic predisposition to reflex sympathetic dystrophy: A ... P. Carlen, 1978) Showed genetic predisposition to developing Reflex Sympathetic Dystrophy. (A. Mailis, 1994) Performed the ... Krembil researches treatments for Alzheimer's disease, Parkinson's disease, epilepsy, stroke, brain tumours, concussions, ...
... as genetic concordance is small; still, a familial predisposition for autoimmune disease is often seen. Polymorphisms in COL1A2 ... Therefore, HSCT should be given early in the progression of the disease, before it does damage. Patients with heart disease, ... Connective tissue diseases, Autoimmune diseases, Disorders of fascia, Systemic connective tissue disorders). ... This is done by replacing blood plasma with a fluid consisting of albumin, and is thought to keep the disease at bay by ...
... to trigger this genetic code for depression. In other words, a person may have a genetic predisposition for a disease, but ... a person may have a genetic predisposition for depression; but they must have social factors, such as extreme stress in work ... The idea behind the model was to express mental distress as a triggered response of a disease that a person is genetically ... For example, a 2019 study linked genetic and biopsychosocial factors to increased post-operative shoulder pain. Future studies ...
Miryam, Martinetti (2019-04-20). "Cord blood donation in Pavia: surveying genetic predisposition to coeliac disease". {{cite ... infectious diseases, orthopedics, pediatric oncology, robotic surgery, and the study of rare diseases. The hospital also hosts ... "When Should Cardiologists Suspect Anderson-Fabry Disease?". American Journal of Cardiology. 106 (10): 1492-1499. doi:10.1016/j. ...
The cause is not known, although a genetic predisposition is suspected. The length of the nerve is a factor since it is more ... Horses are subject to equine recurrent laryngeal neuropathy, a disease of the axons of the recurrent laryngeal nerves. ... bilateral recurrent laryngeal nerve disease may be the cause of wheezing (stridor) when middle-aged dogs inhale.: 771 In ...
... collagen vascular disease and previous open appendectomy, among others. Predisposition to hernias is genetic and occur more ... March 1994). "Genetic study of indirect inguinal hernia". Journal of Medical Genetics. 31 (3): 187-92. doi:10.1136/jmg.31.3.187 ... Deleterious mutations causing predisposition to hernias seem to have dominant inheritance (especially for men). It is unclear ... GBD 2015 Disease and Injury Incidence and Prevalence Collaborators) (October 2016). "Global, regional, and national incidence, ...
... she created a test that could differentiate people with a genetic predisposition for cancer from those with Alzheimer's disease ... In 1985, she designed a test that could recognized genetic predisposition for cancer. Building on this idea in the 90s, ... This allowed the advancement of research on metabolic and genetic features of the clone cell. Prior to her discovery, tissue ... This patent was a process patent for detecting genetic susceptibility to cancer, involving the frequency of gaps and breaks in ...
This may be secondary to a combination of genetic predisposition and environmental factors. Organizations such as the Indian ... Coronary artery disease (CAD), also called coronary heart disease (CHD), ischemic heart disease (IHD), myocardial ischemia, or ... higher among participants at high genetic risk than among those at low genetic risk. Up to 90% of cardiovascular disease may be ... "Identification of 64 Novel Genetic Loci Provides an Expanded View on the Genetic Architecture of Coronary Artery Disease". ...
While a genetic predisposition has been suggested, an unknown mode of inheritance remains. Research programs, mainly in the ... Other Wheaten health issues are renal dysplasia, inflammatory bowel disease, Addison's disease, and cancer. Some Wheatens can ... "Addison's Disease or Hypoadrenocorticism". Scwtca.org. Retrieved 15 April 2017. "SCWTDB.org , Soft Coated Wheaten Terrier ... They are susceptible to various heritable diseases, although are most known for two protein wasting conditions: protein-losing ...
... collagen vascular disease, and previous open appendectomy, among others. Predisposition to hernias is genetic and they occur ... Deleterious mutations causing predisposition to hernias seem to have dominant inheritance (especially for men). It is unclear ... Gong, Y.; Shao, C.; Sun, Q.; Chen, B.; Jiang, Y.; Guo, C.; Wei, J.; Guo, Y. (1994). "Genetic Study of Indirect Inguinal Hernia ... GBD 2015 Disease and Injury Incidence and Prevalence, Collaborators. (8 October 2016). "Global, regional, and national ...
... genetic predisposition and family history of cardiovascular disease, raised blood pressure (hypertension), raised blood sugar ( ... Coronary artery disease (also known as coronary heart disease and ischemic heart disease) Peripheral arterial disease - disease ... congenital heart disease, valvular heart disease, carditis, aortic aneurysms, peripheral artery disease, thromboembolic disease ... Cardiovascular disease (CVD) is any disease involving the heart or blood vessels. CVDs constitute a class of diseases that ...
... cardiovascular disease, and cerebrovascular disease. Other risk factors include geographic origin, genetic predisposition, and ... Apathy early in the disease is more suggestive of vascular dementia.[citation needed] Rare genetic disorders that cause ... A rapidly deteriorating condition may lead to death from a stroke, heart disease, or infection. The disease is described as ... "Alzheimer disease with cerebrovascular disease and vascular dementia: clinical features and course compared with Alzheimer ...
Yet little is known about the genetic predisposition to developing gastrointestinal symptoms in patients with young-onset and ... Study Design: For this study, we will use clinical and genetic data that has been collected by the Fox Insight Initiative. We ... Impact on Diagnosis/Treatment of Parkinsons disease: Our study will identify a possible subgroup of individuals that have a ... Hypothesis: We predict that the relationship between constipation and genetic and environmental risk factors will be different ...
A genetic predisposition means that there is an increased chance that a person will develop a disease based on their genetic ... For more information about genetic predisposition to disease:. The Genetic Science Learning Center at the University of Utah ... A genetic predisposition results from specific genetic variations that are often inherited from a parent. These genetic changes ... In people with a genetic predisposition, the risk of disease can depend on multiple factors in addition to an identified ...
New Insights into Hereditary Diseases and Genetic Predisposition to Disease in Dogs ... Genetic diseases are caused by chromosomal alterations or gene mutations. Disease-causing mutations are heritable changes in ... However, many of the characteristic breed traits and common and rare genetic diseases seen in veterinary practice and disease ... many hereditary disorders and genetic predispositions to disease have been characterized from the clinical signs to the gene ...
Combining family history of coronary heart disease and individual genetic predisposition to accurately predict the lifetime ...
Insulin Resistance Exacerbates Genetic Predisposition to Nonalcoholic Fatty Liver Disease in Individuals Without Diabetes... 18 ...
... deficit/hyperactivity disorder and increased odds of developing late-onset Alzheimers disease, researchers say. ... A new study is the first to show a link between genetic risk for attention- ... A genetic predisposition to attention-deficit/hyperactivity disorder (ADHD) may increase risk for cognitive decline and ... Cite this: Genetic Predisposition to ADHD Linked to Increased Alzheimers Risk - Medscape - Dec 16, 2022. ...
Genetic susceptibility to type 2 diabetes, insulin resistance and BMI did not modify the association between macronutrient ... suggests that macronutrient intake recommendations to prevent type 2 diabetes do not need to account for differences in genetic ... 18 National Food Institute, Division for Diet, Disease Prevention and Toxicology, Technical University of Denmark, Kongens ... Interplay between genetic predisposition, macronutrient intake and type 2 diabetes incidence: analysis within EPIC-InterAct ...
Genetic predisposition. An animal model for anti-GBM disease (Goodpasture disease) has demonstrated that a 10 amino acid, ... 5] Renal disease may be indolent, resulting in advanced and often irreversible disease at the time of presentation. Renal ... United States Renal Data System (USRDS). 2008 Annual data report: atlas of chronic kidney disease and end-stage renal disease ... United States Renal Data System (USRDS). 2011 Annual data report: atlas of chronic kidney disease and end-stage renal disease ...
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Genetic predisposition. Any inherited genetic pattern that may make some individuals more prone than others to certain health ... A genetic mutation in this protein is the basis for a rare inherited form of Parkinsons disease. For more information see ... Sporadic Parkinsons disease is sometimes called idiopathic, meaning that the cause is unknown. Sporadic Parkinsons disease ... Symptoms that affect up to 90 percent of individuals with Parkinsons disease at some time in the course of their disease, and ...
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International Biosciences provide Genetic Predisposition DNA Testing for Coronary Heart Disease. Order your test today. ... International Biosciences provide Genetic Predisposition testing to determine your genetic predisposition for important health ... It is hoped that genetic predisposition DNA testing for coronary heart disease will result in improved mechanisms by which the ... Discovering a genetic predisposition to coronary heart disease would prove invaluable for early diagnosis and treatment. At the ...
Results of search for su:{Genetic Predisposition to Disease} Refine your search. *. Availability. * Limit to currently ... Genetics and public health in the 21st century : using genetic information to improve health and prevent disease / edited by ... Genetic Screening : Ethical Issues. by Nuffield Council on Bioethics.. Material type: Text; Format: print ; Literary form: Not ...
The researchers may have been able to improve their assessment of the autism-related genetic contribution to the studys ... differences in social perception and response to social cues may be determined by underlying genetic predisposition. These ... disease (5) * embodied cognition (62) * emotion (437) * emotions (147) * evolution/debate (145) ...
Jordan MA, Field J, Butzkueven H, Baxter AG (2014). "Genetic Predisposition, Humans". The Autoimmune Diseases. pp. 341-364. doi ... Genocopy is a trait that is a phenotypic copy of a genetic trait but is caused by a different genotype. When a genetic mutation ... ISBN 0-7167-4939-4. "What is Mitochondrial Disease?". United Mitochondrial Disease Foundation (UMDF). 14 January 2016. Saneto ... identical Mitochondrial DNA mutations may not show up as identical diseases. Genocopies are often seen as diseases that might ...
BAP1 tumor predisposition syndrome is an inherited disorder that increases the risk of a variety of cancerous (malignant) and ... Genetic Testing Information. *Genetic Testing Registry: BAP1-related tumor predisposition syndrome Genetic and Rare Diseases ... Catalog of Genes and Diseases from OMIM. *TUMOR PREDISPOSITION SYNDROME 1; TPDS1 ... BAP1 tumor predisposition syndrome is caused by mutations in the BAP1 gene. The BAP1 protein acts as a tumor suppressor, which ...
... pneumonia and other diseases." -THE FISH SITE. Genetic Predisposition. Some fish may be more prone to swim bladder disease due ... If you suspect that your fish has a genetic predisposition for swim bladder disease, it is important to take steps to prevent ... Chronic swim bladder disease can be caused by congenital defects, genetic predisposition, environmental factors, or other ... Can Swim Bladder Disease Lead to the Death of Fish?. Swim bladder disease can be a severe condition that can lead to the death ...
jats:p, ,jats:p, ,jats:bold,Conclusions,/jats:bold, - This study found no evidence that the genetic architecture of CAD differs ... When we considered the overall genetic correlations between CAD and its risk factors, we found no substantial differences in ... we performed a systematic assessment of genetic overlap between CAD and T2D in 66,643 subjects (27,708 with CAD and 24,259 with ... To test whether this reflects differential genetic influences on CAD-risk in subjects with T2D, ...
... has become the most common chronic liver disease worldwide. Its incidence has grown alongside the increasing global prevalence ... Genetic predisposition. The variability in NAFLD development among those with predisposing lifestyle risk factors suggests a ... Genetic variation in PNPLA3 confers susceptibility to nonalcoholic fatty liver disease. Nat Genet 2008; 40: 1461-1465. ... Clinical epidemiology and disease burden of nonalcoholic fatty liver disease. World J Gastroenterol 2017; 23: 8263-8276. ...
BRCA genetic result disclosure for women with Breast Cancer: influence of +/- predisposition genetic mutation ... Wierenga, K. L., Lehto, R. H., & Given, B. (2017a). Emotion Regulation in Chronic Disease Populations: An Integrative Review. ... BRCA genetic result disclosure for women with Breast Cancer: influence of +/- predisposition genetic mutation. ... A Comparison of Patient-Reported Outcomes Following Consent for Genetic Testing Using an Oncologist- or Genetic Counselor- ...
Genetic predisposition. An animal model for anti-GBM disease (Goodpasture disease) has demonstrated that a 10 amino acid, ... 5] Renal disease may be indolent, resulting in advanced and often irreversible disease at the time of presentation. Renal ... United States Renal Data System (USRDS). 2008 Annual data report: atlas of chronic kidney disease and end-stage renal disease ... United States Renal Data System (USRDS). 2011 Annual data report: atlas of chronic kidney disease and end-stage renal disease ...
Sexual Differences in Genetic Predisposition of Coronary Artery Disease. Circ Genom Precis Med. 2020 Dec 17. ... Building the evidence for using genetic information to improve health and prevent disease. Oxford University Press, New York, ... A Scientific Foundation for Using Genetic Information to Improve Health and Prevent Disease. Oxford University Press, New York ... Using Genetic Information to Improve Health and Prevent Disease. Oxford University Press, New York, 2000 ...
Other concurrent diseases. There are some dog breeds in which kidney stones occur more often, due to a genetic predisposition: ... Kidney stones in dogs can lead to serious health problems if left untreated, not to mention that it is a very painful disease, ... While some breeds have a hereditary predisposition to forming kidney stones, in other cases they are caused by dietary factors ... or other concurrent diseases, such as a kidney or urinary tract infection. Dogs are more likely to form kidney stones with age ...
Genetic predisposition alone does not lead to MS. Studies in recent years have clearly shown that genetic risk variants are a ... "Although the healthy twins also had the maximum genetic risk for MS, they showed no clinical signs of the disease," says Lisa ... a variety of genetic risk factors and environmental influences have already been linked to the disease. ... Twin study eliminates genetic influences. Thanks to this globally unique cohort of identical twins, the researchers were able ...
Genetic predisposition to iatrogenic Creutzfeldt-Jakob disease. Lancet. 1991;337:1441-2. DOIPubMedGoogle Scholar ... Genetic studies in human prion diseases. J Korean Med Sci. 2014;29:623-32. DOIPubMedGoogle Scholar ... Genetic prion disease: the EUROCJD experience. Hum Genet. 2005;118:166-74. DOIPubMedGoogle Scholar ... Kim, Y., & Jeong, B. (2022). Creutzfeldt-Jakob Disease Incidence, South Korea, 2001-2019. Emerging Infectious Diseases, 28(9), ...
Genetic predisposition contributes to disease pathophysiology in irritable bowel syndrome (IBS). This Review provides a ... Updates on systemic consequences of coeliac disease Important studies published in 2020 highlight that coeliac disease is a ... Multiomics to elucidate inflammatory bowel disease risk factors and pathways Multiomics advance our understanding of disease ... Non-alcoholic fatty liver disease (NAFLD) is a potentially serious liver disease with a substantial burden worldwide. In this ...
Anesthesia increases risk of developing Alzheimers disease in patients with genetic predisposition Madrid, Spain -The use of ... An analysis of genetic risk factors predisposing to MCI is critical for accessing individual predisposition and reliably ... A team of researchers at UMass Lowell has found a new mechanism by which a key protein associated with Alzheimers disease can ... Alcohol Consumption May Protect Against Risk of Alzheimers Disease, Particularly in Female Nonsmokers A new study published ...
With genetic analysis, a person can benefit from timely interventions and gene-targeted treatments. ... Advancement in genetic research and testing have aided our understanding and helped us in mapping the disease at the molecular ... This is known as genetic predisposition or susceptibility. Even though genetically predisposed individuals may lead a healthy ... Genetic mapping has proved to be effective in disease-risk prediction. It is a stepping stone to advanced diagnostics and ...
Ötzi the Iceman may have had a genetic predisposition to heart disease. ... Ötzi the Iceman, a well-preserved mummy discovered in the Alps, may have had a genetic predisposition to heart disease, new ... Now, new research shows he had a genetic predisposition to heart disease. (Image credit: Reconstruction by Kennis © South Tyrol ... Despite spending years hiking in hilly terrain, it seems Ötzi couldnt walk off his genetic predisposition to heart disease. ...
  • Coronary Heart Disease refers to a condition whereby the arteries supplying blood to the heart become blocked, either wholly or in part, by fatty deposits known as atheroma, which typically include waste substances such as cholesterol and calcium. (ibdna.com)
  • The primary symptom of coronary heart disease is temporary chest pain that can be treated in the majority of cases. (ibdna.com)
  • Coronary heart disease can affect people of all ages, but is most common in those aged over 75. (ibdna.com)
  • It is hoped that genetic predisposition DNA testing for coronary heart disease will result in improved mechanisms by which the condition is diagnosed and treated. (ibdna.com)
  • Although coronary heart disease is known to be caused by environmental factors such as diets comprising high cholesterol levels, obesity and tobacco smoking, internal conditions such as diabetes and high blood pressure can also play a significant role in its development. (ibdna.com)
  • Discovering a genetic predisposition to coronary heart disease would prove invaluable for early diagnosis and treatment. (ibdna.com)
  • For support and more information about coronary heart disease, please visit the British Heart Foundation website, a UK charity ensuring quality care and support for everyone living with heart disease. (ibdna.com)
  • Overweight and obesity are known risk by women over their clothes) or loose gown factors for diabetes, coronary heart disease, and whether inside or outside home], and stroke, hypertension, gall bladder disease, exercise taken (defined as brisk walking at osteoarthritis, sleep apnoea, some forms of least half an hour per day or doing exercises cancer and infertility. (who.int)
  • A genetic predisposition to attention-deficit/hyperactivity disorder (ADHD) may increase risk for cognitive decline and Alzheimer's disease, new research suggests. (medscape.com)
  • They tapped the Alzheimer's Disease Neuroimaging Initiative (ADNI), a longitudinal multicenter study, to identify 212 adults aged 55-90 years who had no cognitive impairment and who had not been clinically diagnosed with ADHD. (medscape.com)
  • This is an important limitation, and we would like to highlight that more work is needed to link clinically confirmed ADHD symptoms and the development of Alzheimer's disease dementia," Laffe said. (medscape.com)
  • Alzheimer's disease is an irreversible, progressive brain disease that causes deterioration of cognitive functioning, such as thinking and memory skills, to an extent that it interferes in a person's ability to function in every day life. (gtldna.com.au)
  • Alzheimer's disease appears most commonly in people over 60 years of age. (gtldna.com.au)
  • Alzheimer's disease is the most common form of dementia found in old age. (gtldna.com.au)
  • Disorientation- People with Alzheimer's disease often lose their sense of time and dates, and may find themselves lost in familiar surroundings. (gtldna.com.au)
  • Two types of brain cell (neuron) damage are thought to be the primary underlying cause of Alzheimer's disease, damage by plaques and damage by tangles. (gtldna.com.au)
  • The risk of developing Alzheimer's increases with age, and a family history of Alzheimer's disease will increase your risk of developing this condition. (gtldna.com.au)
  • Rudy J. Castellani, Jr., MD, has been chosen as recipient of the 2010 Alzheimer Award presented by the Journal of Alzheimer's Disease in recognition of his outstanding work, "Reexamining Alzheimer's Disease: Evidence for a Protective Role for Amyloid-β Protein Precursor and Amyloid-β" (J Alzheimers Dis 18, 447-452, 2009) by R.J. Castellani et al. (j-alz.com)
  • A new study published this month in the Journal of Alzheimer's Disease suggests a protective effect of alcohol consumption on the risk of Alzheimer's disease, particularly in women who do not smoke. (j-alz.com)
  • Amsterdam, The Netherlands - Alzheimer's disease (AD) is a neurodegenerative disorder affecting millions of people worldwide and has become a major global concern. (j-alz.com)
  • Montreal, Cananda -Prof. Claudio Cuello at McGill University and his collaborators have genetically manipulated rats that can emulate Alzheimer's disease in humans, enabling research that will include the development of new treatments. (j-alz.com)
  • Amsterdam - Mild cognitive impairment (MCI) is often considered an early symptom of Alzheimer's disease (AD). (j-alz.com)
  • Lowell, Mass. - A team of researchers at UMass Lowell has found a new mechanism by which a key protein associated with Alzheimer's disease can spread within the human brain. (j-alz.com)
  • About 5 to 15 percent of people 65 and older suffer from some form of dementia - the most common of which is Alzheimer's disease. (netwellness.org)
  • Alzheimer's disease often runs in families (genetic predisposition). (netwellness.org)
  • There are several mutations located on three separate chromosomes (numbers 21, 14, and 1) that scientists have found that will cause early-onset Alzheimer's disease (usually starting in the late 30's to early 50's). (netwellness.org)
  • The APOE e4 gene has been linked to increased risk of later onset (over age 60) Alzheimer's disease. (netwellness.org)
  • Drugs currently approved for treating the cognitive and memory aspects of Alzheimer's disease are cholinesterase inhibitors (donepezil, rivastigmine, and galantamine) and NMDA antagonists (memantine). (netwellness.org)
  • At Genetic Risk for Alzheimer's Disease? (alzinfo.org)
  • Those are the findings from an analysis of nearly 200,000 men and women, age 60 or older, who had no memory loss or other early symptoms of Alzheimer's disease at the start of the study. (alzinfo.org)
  • They were also tested to see whether they carried various genes that are known to increase the risk that you will develop Alzheimer's disease in older age. (alzinfo.org)
  • The researchers calculated that among those with a genetic predisposition to Alzheimer's disease, living a healthy lifestyle slightly reduced the risk of developing Alzheimer's disease. (alzinfo.org)
  • The effect is not huge, but anything that may help to ward off Alzheimer's disease is worth it. (alzinfo.org)
  • Pediatric cancer genetics will continue to grow and evolve as a field, and genetic counseling services will be vital to ensure appropriate identification and management of at-risk children moving forward. (nih.gov)
  • Understanding genetics: the relationship of disease and genetic predisposition in African-Americans. (fiu.edu)
  • Genetics and public health in the 21st century : using genetic information to improve health and prevent disease / edited by Muin J. Khoury, Wylie Burke, Elizabeth J. Thomson. (who.int)
  • Human nature Nature versus nurture Behavioral genetics Predispositioning Theory Psychiatric genetics Gene-environment correlation Eugenics Eggshell skull MODY Allergy Oncogene Quantitative trait locus Genetic privacy What does it mean to have a genetic predisposition to a disease? (wikipedia.org)
  • Simply put, population genetics is the study of genetic variation within populations and assessment of changes in the frequencies of genetic variations and alleles in populations. (livemint.com)
  • The findings suggest that genetics play a stronger role in heart disease than previously thought, he said. (livescience.com)
  • To follow up, the team would like to compare the genetic makeup of other mummies with the state of their arteries, to tease out just how much of a role genetics play in heart disease, Zink said. (livescience.com)
  • Although each of these variations only slightly increases a person's risk, having changes in several different genes may combine to increase disease risk significantly. (medlineplus.gov)
  • Researchers are working to calculate an individual's estimated risk for developing a common disease based on the combination of variants in many genes across their genome. (medlineplus.gov)
  • Certain genetic variations in the GPX1 (Glutathione peroxidase) and EPHX1 (Epoxide hydrolase) genes are among the few that have been studied by researchers. (livemint.com)
  • Most diseases involve complex interactions of the involved genes, in addition to environmental stimuli. (livemint.com)
  • Thus, the first step in identifying the disease-susceptibility genes should involve identification of candidate genes. (livemint.com)
  • Although we inherit genetic material from our parents, it is at times reshaped by certain epigenetic alterations-influencing (silencing or over-expressing) the activity of certain genes. (livemint.com)
  • My research interest focuses on how genes and genetic mechanisms contribute to childhood developmental or late-onset disorders of the human nervous system. (yale.edu)
  • Untangling the degree to which genes, environments, and behaviors contribute to the disease is difficult. (sciencedaily.com)
  • Living a healthy lifestyle may reduce the risk for Alzheimer's, even if you carry genes that put you at risk of developing the disease. (alzinfo.org)
  • A genetic predisposition (sometimes also called genetic susceptibility) is an increased likelihood of developing a particular disease based on a person's genetic makeup. (medlineplus.gov)
  • At the same time, these effects were mostly observed in individuals with amyloid pathology at baseline, pointing to the genetic risk for ADHD as a susceptibility to damage caused by Alzheimer's," he added. (medscape.com)
  • In medicine, genetic susceptibility to a disease refers to a genetic predisposition to a health problem, which may eventually be triggered by particular environmental or lifestyle factors, such as tobacco smoking or diet. (wikipedia.org)
  • This is known as genetic predisposition or susceptibility. (livemint.com)
  • Predisposition is the capacity humans are born with to learn things such as language and concept of self. (wikipedia.org)
  • 2022 was a proficuous year in both the nonalcoholic fatty liver disease (NAFLD) and obesity fields. (nature.com)
  • In 2022, we witnessed advances in the field of alcohol-related liver disease. (nature.com)
  • Key studies published in 2022 highlight the emergence of several novel drugs for inflammatory bowel disease. (nature.com)
  • Chaitanya Thandra K, Barsouk A, Saginala K, Sukumar Aluru J, Rawla P, Barsouk A. Epidemiology of non-alcoholic fatty liver disease and risk of hepatocellular carcinoma progression. (termedia.pl)
  • Genetic diseases are caused by chromosomal alterations or gene mutations. (vin.com)
  • Disease-causing mutations are heritable changes in the sequence of genomic DNA that alter the expression, structure, and function of the coded protein. (vin.com)
  • These molecular genetic changes include point mutations, deletions, and insertions in the DNA sequence that result in a missense or nonsense sequence with an altered codon sequence. (vin.com)
  • Although the genetic mechanisms of Alzheimer's among families remain largely unexplained, researchers have identified several genetic mutations that greatly increase risk in some families. (gtldna.com.au)
  • BAP1 tumor predisposition syndrome is caused by mutations in the BAP1 gene. (medlineplus.gov)
  • Insulin Resistance Exacerbates Genetic Predisposition to Nonalcoholic Fatty Liver Disease in Individuals Without Diabetes. (hjarta.is)
  • We investigated the influence of interactions between genetic risk scores (GRSs) for type 2 diabetes, insulin resistance and BMI and macronutrient intake on the development of type 2 diabetes in the European Prospective Investigation into Cancer and Nutrition (EPIC)-InterAct, a prospective case-cohort study across eight European countries (N = 21,900 with 9742 incident type 2 diabetes cases). (nih.gov)
  • International Biosciences provide Genetic Predisposition testing to determine your genetic predisposition for important health conditions including cancers, cardiovascular conditions, diabetes and obesity. (ibdna.com)
  • Coronary artery disease (CAD) is accelerated in subjects with type 2 diabetes (T2D). (ox.ac.uk)
  • Usually there are contributing factors, such as a history of hypertension, heart disease, diabetes or cigarette smoking. (netwellness.org)
  • 1. Exploitation of rare genetic disorders with Mendelian trait may provide novel insights into mechanisms of common disorders and complex biological processes, such as dementia, diabetes or aging, and recognized disease pathways can offer strategies for prevention, diagnosis, and therapy. (yale.edu)
  • NaturalNews) A genetic predisposition to Type II diabetes is found among more than half of the U.S. population. (naturalnews.com)
  • With the disease reaching epidemic proportions, obviously more research is needed into the protection from Type II diabetes specific nutrients provide. (naturalnews.com)
  • For example, research published in the journal Nature strongly indicates an imbalance of "good" versus "bad" bacteria in the intestinal tract appears to trigger Type II diabetes and taking probiotics may help prevent the disease. (naturalnews.com)
  • So, researchers found a proxy for ADHD: a polygenic risk score that represents the combined genetic likelihood of developing ADHD. (medscape.com)
  • With models, researchers can study the mechanisms of a disease and test therapies. (michaeljfox.org)
  • The researchers may have been able to improve their assessment of the autism-related genetic contribution to the study's findings by separating the degree of environmental influence on the oxytocin receptor gene expression, as did a 2015 University of Virginia study. (dericbownds.net)
  • Researchers are still determining whether other forms of cancer are linked to BAP1 tumor predisposition syndrome. (medlineplus.gov)
  • Although it is unclear exactly how loss of BAP1 function leads to BAP1 tumor predisposition syndrome, researchers speculate that altered activity of proteins normally regulated by BAP1 deubiquitination may promote cell proliferation or survival, resulting in tumor formation. (medlineplus.gov)
  • Thanks to this globally unique cohort of identical twins, the researchers were able to exclude genetic influences by comparing twins with and without multiple sclerosis. (eurekalert.org)
  • In the new study, Zink and his colleagues found that Ötzi had several gene variants associated with cardiovascular disease, including one on the ninth chromosome that is strongly tied to heart troubles, the researchers reported today (July 30) in the journal Global Heart. (livescience.com)
  • Researchers in the UK have found that genetic risk of cardiovascular disease may be due to low levels of a biomarker found in fish oils. (naturesbest.co.uk)
  • Researchers decided to exclude women in the latter group because they wanted to focus on whether the American Cancer Society recommendations on diet, exercise and alcohol consumption could plausibly influence disease rates. (sciencedaily.com)
  • Researchers have found a genetic predisposition for mesothelioma in a small percentage of cases. (mesothelioma.com)
  • 1. Class I obesity is linked to several other diseases, decreases longevity, and diminishes quality of life. (healthleadersmedia.com)
  • 6. The primary laparoscopic surgical interventions for obesity- adjustable gastric banding , Roux-en-Y gastric bypass , and sleeve gastrectomy -are safe and effective in the treatment of Class I obesity. (healthleadersmedia.com)
  • As the understanding of the genetic etiology of childhood cancers increases, the need for the involvement of experts familiar with the provision of genetic counseling for this population is paramount. (nih.gov)
  • Skin cancers are also associated with BAP1 tumor predisposition syndrome, including cutaneous melanoma and basal cell carcinoma . (medlineplus.gov)
  • When they occur in people with BAP1 tumor predisposition syndrome, cancers tend to arise at a younger age and are often more aggressive than cancers in the general population. (medlineplus.gov)
  • The case of Churchill and other similar instances make us question the genetic component in the reduced risk and protective association to cancers in heavy smokers. (livemint.com)
  • People make lifestyle choices that predispose them-or lead to-specific cancers and cardiovascular disease, and yet nobody hesitates to provide effective treatment for those problems," he says. (healthleadersmedia.com)
  • The "epidemiological transition", with its double burden of infectious and noncommunicable diseases, is common to many developing countries, where about two-thirds of the deaths due to circulatory diseases (64%), cancers (60%) and chronic obstructive lung diseases (66%) occur. (who.int)
  • Centers for Disease Control and Prevention. (cdc.gov)
  • In South Korea, the Korea Centers for Disease Control and Prevention (KCDC) has operated the CJD surveillance system and issued epidemiologic reports since 2001. (cdc.gov)
  • The Centers for Disease Control and Prevention (CDC) cannot attest to the accuracy of a non-federal website. (cdc.gov)
  • From 2015 to 2016, 39.8% of Americans over age 20 were obese, according to the Centers for Disease Control and Prevention ( CDC ). (healthleadersmedia.com)
  • Posted on August 14, 2017 by Christine Y Lu, guest blogger, Harvard Medical School, Boston, Mass and Muin J. Khoury, Office of Public Health Genomics, Centers for Disease Control and Prevention. (cdc.gov)
  • Nonalcoholic fatty liver disease (NAFLD) is fast becoming a disease of first-world countries, where high fat food is rarely a scarcity, and lives continue to become more sedentary. (nursingcenter.com)
  • Yet little is known about the genetic predisposition to developing gastrointestinal symptoms in patients with young-onset and late-onset PD or about the environmental risk factors for constipation. (michaeljfox.org)
  • She noted that some individuals who have a lower genetic risk score go on to develop ADHD, while some with a higher score never show symptoms. (medscape.com)
  • Many of the symptoms of Parkinson's disease are brought on by loss of or damage to dopamine neurons in this region, which encompasses the striatum, the subthalamic nucleus, and the substantia nigra. (michaeljfox.org)
  • In order to ensure that your fish remain healthy and happy, it's important to understand what swim bladder disease is and how to recognize its symptoms. (safeharborfishing.com)
  • In this guide, we'll cover all of the basics of swim bladder disease - from its causes and symptoms, to prevention methods and treatment options. (safeharborfishing.com)
  • Understanding the causes, symptoms, and treatments of swim bladder diseases enable pet owners to identify problems early enough to administer treatment before it becomes chronic or fatal. (safeharborfishing.com)
  • As the disease progresses, so do the symptoms. (netwellness.org)
  • As the disease progresses, so do the symptoms, and eventually the person has difficulty performing even simple tasks. (netwellness.org)
  • Clinical disease: physical signs and symptoms resulting from a sufficiently absorbed toxicant dose. (cdc.gov)
  • Having a disease, but (as yet) without symptoms ( e.g. 'subclinical') or a disease w ith usually no symptoms , e.g. high blood pressure. (fibromyalgia-associationuk.org)
  • therefore, there is an opportunity to decrease risks, minimize symptoms, and perhaps prevent the disease entirely. (nursingcenter.com)
  • Recent exciting advances in our current knowledge of the completed dog and feline genome sequences offer the opportunity to clinicians to use these emerging tools in clinical practice and have a positive impact on the health of dogs as well as cats and in particular the diagnosis, management, and control of hereditary diseases. (vin.com)
  • But our study shows that engaging in a healthy lifestyle can help women, even when familial predisposition is involved. (sciencedaily.com)
  • With the recent completion of the canine and feline genome sequences, the unique traits of breeds, many hereditary disorders and genetic predispositions to disease have been characterized from the clinical signs to the gene defect. (vin.com)
  • Today, many hereditary diseases are well characterized from clinical signs to the gene defect, precise diagnostic tools have been developed to detect affecteds but also carriers, specific treatments can be offered for a few, and genetic counseling with breeder clients can improve the health of small animals in future generations. (vin.com)
  • Because of the increased awareness of breeders, pet owners, and veterinarians of genetic defects and the improved diagnostic abilities in clinical practice, the number of reported hereditary diseases in small animals is rapidly growing. (vin.com)
  • 200 hereditary diseases in dogs and cats, respectively, have been adequately documented, and every year over a dozen new defects are being reported. (vin.com)
  • The molecular genetic defect is now known for ~60 hereditary disorders in dogs and ~20 in cats. (vin.com)
  • few studies have examined a wide range of possible predictive individual factors for psychological adaptation after genetic testing for hereditary cancer. (unime.it)
  • While some breeds have a hereditary predisposition to forming kidney stones, in other cases they are caused by dietary factors or other concurrent diseases, such as a kidney or urinary tract infection. (vetinfo.com)
  • Normal animals modified mechanically, genetically or chemically, used to demonstrate all or part of the characteristics of a disease. (michaeljfox.org)
  • Genetic testing is able to identify individuals who are genetically predisposed to certain diseases. (wikipedia.org)
  • Even though genetically predisposed individuals may lead a healthy lifestyle, they have an inherent risk of contracting a disease, independent of environmental factor, unless the risk factors are properly addressed. (livemint.com)
  • A class of drugs used to treat mild to moderate dementia in Parkinson's disease. (michaeljfox.org)
  • A class of drugs often effective in reducing the tremor of Parkinson's disease. (michaeljfox.org)
  • The aetiology of autoimmune hepatitis (AIH) is uncertain but the disease can be triggered in susceptible patients by external factors such as viruses or drugs. (wjgnet.com)
  • We predict that the relationship between constipation and genetic and environmental risk factors will be different for young-onset and late-onset PD. (michaeljfox.org)
  • When we considered the overall genetic correlations between CAD and its risk factors, we found no substantial differences in these relationships by T2D background. (ox.ac.uk)
  • Although the cause of MS is still unclear, a variety of genetic risk factors and environmental influences have already been linked to the disease. (eurekalert.org)
  • An analysis of genetic risk factors predisposing to MCI is critical for accessing individual predisposition and reliably evaluating the effectiveness of early treatment. (j-alz.com)
  • NASH is comparable to alcoholic cirrhosis/hepatitis, as it can follow the same sequelae of complications (portal hypertension [HTN], esophageal varices, increased bleeding times, decreased albumin, causing ascites, fluid shifts, malnutrition), but the risk factors for these diseases are different. (nursingcenter.com)
  • This article discusses an overview of the risk factors, cellular and genetic levels of the process, immune response, complications, and treatment of NASH. (nursingcenter.com)
  • It is the combination of many of these risk factors, not usually just one, that increase the risk of disease. (nursingcenter.com)
  • Broader public health action is emphasized, including integration of preventive measures against major risk factors for chronic diseases within health services and, particularly in primary health care which has proven to be effective. (who.int)
  • Numerous studies over the last 40 years, have revealed certain risk factors for noncommunicable diseases and thus the health benefit of programmes to reduce such risks. (who.int)
  • For approximately half of the disorders suspected to be of a genetic nature the mode of inheritance remains, however, unknown. (vin.com)
  • Knowing which genetic disorders and diseases you are at risk from will allow you to plan to reduce it by making lifestyle changes such as diet and exercise. (ibdna.com)
  • Equitable Implementation of Cascade Testing for Genetic Disorders: Where are We? (cdc.gov)
  • Testing relatives of individuals with genetic disorders, a process known as cascade testing or cascade screening, is critical for identifying those needing health services that can prevent morbidity and mortality. (cdc.gov)
  • For example, tests are available to check newborns for genetic disorders, screen would-be parents for carrier status, inform cancer care, and evaluate potential pharmacogenetic associations. (cdc.gov)
  • Classification of Diseases and related health problems categorization of mental disorders) for MDD group. (who.int)
  • et al: "Association of Lifestyle and Genetic Risk With Incidence of Dementia. (alzinfo.org)
  • Key studies published in 2021 demonstrated mechanisms that drive macrophage-fibroblast pathogenicity in Crohn's disease, developed multi-omics profiles to predict response to biological therapy, and suggested potential complementary treatments and new therapeutic agents in inflammatory bowel disease (IBD) therapy. (nature.com)
  • Exploring the genetic, molecular and biological features of neural differentiation process from embryonic and patient-specific stem cells may offer an unprecedented chance to understand normal and abnormal human brain development and diseases, with implications for drug development and potential cellular replacement therapy. (yale.edu)
  • Non-alcoholic fatty liver disease (NAFLD) has grown in incidence to become the most common chronic liver disease worldwide [1] and is projected to surpass alcoholic liver disease as the leading cause of liver transplantation in the United States by 2030 [2]. (termedia.pl)
  • Multiple sclerosis (MS) is a chronic inflammatory disease of the central nervous system and the most common cause of neurological impairment in young adults. (eurekalert.org)
  • Asbestosis is a chronic lung disease that develops from scarring of the lung tissue. (mesothelioma.com)
  • Asbestos may cause noncancerous conditions, such as asbestosis, pleural thickening , pleural plaques and chronic obstructive pulmonary disease (COPD). (mesothelioma.com)
  • 7KH ZRUOG KHDOWK UHSRUW confirmed that major chronic noncommunicable diseases were responsible for nearly half of the total estimated 52 million deaths in 1996, about 67 000 a day. (who.int)
  • and in patients with other chronic rheumatologic diseases. (msdmanuals.com)
  • A short medical and obstetric history was plications, hirsutism, stress incontinence also recorded (presence of chronic disease, and increased surgical risk [3,4]. (who.int)
  • The exact cause of Alzheimer disease is unknown, however scientists believe that it is triggered as a result of a combination of genetic, lifestyle and environmental factors. (gtldna.com.au)
  • The combination of genetic predisposition and poor lifestyle was particularly potent. (alzinfo.org)
  • Behaviors displayed by animals can be influenced by genetic predispositions. (wikipedia.org)
  • Genetic predisposition towards certain human behaviors is scientifically investigated by attempts to identify patterns of human behavior that seem to be invariant over long periods of time and in very different cultures. (wikipedia.org)
  • E. O. Wilson's book on sociobiology and his book Consilience discuss the idea of genetic predisposition of behaviors. (wikipedia.org)
  • The impact of genetic counseling on knowledge and emotional responses in Spanish population with family history of breast cancer. (unime.it)
  • However, a study of more than 85,000 postmenopausal women observed that regular physical activity, maintaining a healthy weight, and drinking less alcohol lowers breast cancer risk for women with, and without a family history of the disease. (sciencedaily.com)
  • Principles of Pediatric Environmental Health: How Does Toxic Exposure Cause Children's Disease? (cdc.gov)
  • How Does Toxic Exposure Cause Children's Disease? (cdc.gov)
  • describe the exposure-disease model. (cdc.gov)
  • The exposure-disease model is often used to conceptualize how toxicant exposure occurs and to identify the steps necessary to cause disease or other adverse health or developmental outcomes. (cdc.gov)
  • The exposure-disease model depicts the relationship between an environmental contaminant and an adverse health effect. (cdc.gov)
  • After a sufficient level of exposure (dose) to the chemical, biologic uptake, target organ contact, and biologic change can occur, all of which can lead to disease or other effects. (cdc.gov)
  • Exposure: For a toxicant to cause disease, exposure must occur. (cdc.gov)
  • Genetic effects are an important determinant of parasite density in children in this population, consistent with previous quantitative genetic studies of Plasmodium parasitaemia, although differences in environmental exposure play a lesser role. (kemri-wellcome.org)
  • Although mesothelioma and asbestosis are caused by asbestos exposure, they are not the same disease. (mesothelioma.com)
  • MYTH: Mesothelioma is the only disease caused by asbestos exposure. (mesothelioma.com)
  • Because this was an observational study and was not designed to assess causation, it is unclear whether a genetic predisposition to ADHD increases risk for Alzheimer's or just makes individuals more susceptible to damage caused by the disease. (medscape.com)
  • BAP1 tumor predisposition syndrome is an inherited disorder that increases the risk of a variety of cancerous (malignant) and noncancerous (benign) tumors, most commonly certain types of tumors that occur in the skin, eyes, kidneys, and the tissue that lines the chest, abdomen, and the outer surface of the internal organs (the mesothelium). (medlineplus.gov)
  • There are some dog breeds in which kidney stones occur more often, due to a genetic predisposition: dalmatians, English bulldogs and small breeds like the miniature schnauzer, the Yorkshire terrier, poodle, Bichon Frise and cocker spaniel. (vetinfo.com)
  • Steps that must occur for an environmental toxicant to cause disease. (cdc.gov)
  • there is no consensus regarding the amount of alcohol ingestion that needs to occur to make this disease alcoholic steatohepatitis versus nonalcoholic steatohepatitis. (nursingcenter.com)
  • In people with a genetic predisposition, the risk of disease can depend on multiple factors in addition to an identified genetic change. (medlineplus.gov)
  • These include other genetic factors (sometimes called modifiers) as well as lifestyle and environmental factors. (medlineplus.gov)
  • Diseases that are caused by a combination of factors are described as multifactorial . (medlineplus.gov)
  • Studies suggest that environmental and lifestyle factors help determine which types of tumor develop in individuals with BAP1 tumor predisposition syndrome. (medlineplus.gov)
  • What factors may influence psychological well being at three months and one year post BRCA genetic result disclosure? (unime.it)
  • We are thus able to find out which part of the immune dysfunction in MS is influenced by genetic components and which by environmental factors. (eurekalert.org)
  • The genetic composition of a population's gene pool changes over time owing to mutation and other factors. (livemint.com)
  • Many factors determine whether a person exposed to a toxic substance develops a clinical disease. (cdc.gov)
  • Alzheimer's is caused by a whole range of factors, and there is no guarantee that living a healthy lifestyle will ward off the disease. (alzinfo.org)
  • Goodpasture's name has been used in a more specific clinical condition known as Goodpasture disease, which is the pulmonary renal syndrome specifically associated with anti-glomerular basement membrane (anti-GBM) antibodies. (medscape.com)
  • To avoid confusion between Goodpasture syndrome and Goodpasture disease, the term anti-GBM disease is used. (medscape.com)
  • On the basis of this clinical report, Goodpasture's name is often linked to the pulmonary renal syndrome of alveolar hemorrhage and necrotizing and proliferative glomerulonephritis, although vasculitis and not anti-GBM disease is believed to be the cause of the pulmonary renal syndrome in Goodpasture's original patient. (medscape.com)
  • Some people with BAP1 tumor predisposition syndrome develop growths in the skin known as atypical Spitz tumors. (medlineplus.gov)
  • is the most common cancerous tumor in BAP1 tumor predisposition syndrome. (medlineplus.gov)
  • When associated with BAP1 tumor predisposition syndrome, malignant mesothelioma most often occurs in the membrane that lines the abdomen and covers the abdominal organs (the peritoneum). (medlineplus.gov)
  • The cancerous tumors in BAP1 tumor predisposition syndrome tend to spread (metastasize) to other parts of the body. (medlineplus.gov)
  • However, individuals with malignant mesothelioma as part of the BAP1 tumor predisposition syndrome appear to survive longer than those who have the cancer without the syndrome. (medlineplus.gov)
  • The gene-disease relationship for CHEK2 remains listed as 'Li-Fraumeni syndrome 2' in public resources such as OMIM and MONDO, despite published evidence to the contrary, causing frustration among Li-Fraumeni syndrome (LFS) clinical experts. (bmj.com)
  • These findings emphasise the need to replace 'Li-Fraumeni syndrome 2' as the CHEK2 -associated disease name, thereby limiting potential confusion. (bmj.com)
  • Although some MIS-C patients have typical manifestations, others appear to have substantial overlap with acute severe COVID-19 infection in other -- and other hyper inflammatory conditions such as Kawasaki disease and toxic shock syndrome. (cdc.gov)
  • A variant normally seen in inflammatory bowel disease patients. (dermnetnz.org)
  • For this study, we will use clinical and genetic data that has been collected by the Fox Insight Initiative. (michaeljfox.org)
  • The genotype refers to the animal's genetic makeup, reflected by its DNA sequence, whereas the phenotype relates to the clinical manifestation of specific gene(s) and environment, or both. (vin.com)
  • Despite this triad of clinical findings, patients with anti-GBM disease may present with a spectrum of conditions ranging from pulmonary hemorrhage with minimal or no renal involvement to full-blown renal failure with limited or no pulmonary involvement. (medscape.com)
  • One of the cardinal clinical features of Parkinson's disease, the slowing down and loss of spontaneous and voluntary movement. (michaeljfox.org)
  • Aim of the study was to examine the implication of clinical psychological in BRCA genetic result post-disclosure dealing with the emotional health of patients undergoing genetic testing depending to the personal resources. (unime.it)
  • Our finding highlighted the psychological influence of genetic testing on wellbeing of BC patients, and more drawing clinical perspective for positive/negative disclosure regarding the predictors for psychological distress. (unime.it)
  • The study by the team led by immunologist Burkhard Becher, professor at the Institute of Experimental Immunology at UZH, and the research groups of Lisa Ann Gerdes and Eduardo Beltrán of the Institute of Clinical Neuroimmunology at the LMU Klinikum, shows that these genetic influences, while always present in MS patients, are not on their own sufficient to trigger multiple sclerosis. (eurekalert.org)
  • Although the healthy twins also had the maximum genetic risk for MS, they showed no clinical signs of the disease," says Lisa Ann Gerdes. (eurekalert.org)
  • Disease-modifying treatments with great potential benefit are currently under investigation and available only through clinical trial participation. (netwellness.org)
  • Genetic testing in children has traditionally focused on conditions with clinical actionability or utility. (cdc.gov)
  • We found increasing trends of Creutzfeldt-Jakob disease (CJD) cases and annual incidence in South Korea during 2001-2019. (cdc.gov)
  • The major type of human prion disease is Creutzfeldt-Jakob disease (CJD), and several countries have reported increasing trends in CJD cases and incidence ( 4 ). (cdc.gov)
  • Alleles are nucleotide bases (A, T, G and C) found in the DNA in different combinations and demonstrate genetic variations. (livemint.com)
  • AIH usually develops in individuals with a genetic background mainly consisting of some risk alleles of the major histocompatibility complex (HLA). (wjgnet.com)
  • A genetic risk score (GRS) was calculated by summing the BMI-associated alleles of each genetic variant. (lu.se)
  • Some people with a predisposing genetic variation will never get the disease while others will, even within the same family. (medlineplus.gov)
  • Although a person's genetic makeup cannot be altered, some lifestyle and environmental modifications (such as having more frequent disease screenings and maintaining a healthy weight) may be able to reduce disease risk in people with a genetic predisposition. (medlineplus.gov)
  • Psoriasis is generally regarded as a young person's disease because its median age at onset is 25 years in women and 28 years in men. (pharmacytimes.com)
  • Deric's MindBlog: Genetic predisposition of our behavioral responses. (dericbownds.net)
  • the notion that the evolution of our behavioral response is solely shaped by the events themselves is challenged by studies that highlight how interindividual differences in social perception and response to social cues may be determined by underlying genetic predisposition. (dericbownds.net)
  • Studies in recent years have clearly shown that genetic risk variants are a necessary condition for developing multiple sclerosis. (eurekalert.org)
  • Cardiovascular diseases are the leading cause of death worldwide except Africa. (wikipedia.org)
  • There are many cardiovascular diseases involving the blood vessels. (wikipedia.org)
  • There are also many cardiovascular diseases that involve the heart. (wikipedia.org)
  • Negative environmental influences may block the predisposition (ability) one has to do some things. (wikipedia.org)
  • Nonalcoholic steatohepatitis (NASH) is a deadly subset disease of those diagnosed with NAFLD. (nursingcenter.com)
  • However, many of the characteristic breed traits and common and rare genetic diseases seen in veterinary practice and disease predispositions, now recognized to have a heritable basis, have taken on an increasingly important role in veterinary medicine as many infectious diseases, nutritional deficiencies, and intoxications have been controlled. (vin.com)
  • Many of the characteristic breed traits and common and rare diseases seen in veterinary practice have a heritable basis. (vin.com)
  • A genetic predisposition is a genetic characteristic which influences the possible phenotypic development of an individual organism within a species or population under the influence of environmental conditions. (wikipedia.org)
  • Anti-GBM autoantibodies that are present in the circulation of patients with anti-GBM disease cross the fenestrated endothelium in the glomerulus and bind with the underlying GBM, inducing renal injury. (medscape.com)
  • Genetic testing needs to be integrated by psychological counseling to manage better the impact of result disclosure (whatever the outcome is) in order to manage better the physical and mental health of patients into efficient personalized medicine toward to the improvement of patient compliance and adherence into well-being perspective and Quality of Life maintaining. (unime.it)
  • Beginning December 2010, CJD was designated as a statutory infectious disease, and KCDC conducts a complete epidemiologic investigation and monitors suspected patients. (cdc.gov)
  • Genetic testing was performed on all patients with diagnosed CJD. (cdc.gov)
  • According to studies by the World Health Organization (WHO), first degree relatives of T2DM patients are about three times more susceptible to T2DM than individuals without a positive family history of the disease. (livemint.com)
  • About 70 percent of patients with the disease experience delusions (false beliefs) of some sort, while depression affects about 40 percent. (netwellness.org)
  • Some patients have a genetic predisposition. (pharmacytimes.com)
  • 8 The National Psoriasis Foundation recently reported data from 5600 randomly sampled patients with psoriatic diseases. (pharmacytimes.com)
  • Underlying bowel disease is active in over half of the patients at the time of an episode of pyoderma gangrenosum. (dermnetnz.org)
  • In US, the Genetic Information Nondiscrimination Act, which was signed into law by President Bush on May 21, 2008, prohibits discrimination in employment and health insurance based on genetic information. (wikipedia.org)
  • Additionally, if left untreated, swim bladder disease can lead to other health problems that may become life-threatening. (safeharborfishing.com)
  • Kidney stones in dogs can lead to serious health problems if left untreated, not to mention that it is a very painful disease, especially when the stones migrate down the urinary tract. (vetinfo.com)
  • Epigenetic changes are responsible for normal development and health, and many diseases, too. (livemint.com)
  • The realization, that dynamic alteration of genetic programs may also play a fundamental role in pathological processes, led to my focus on how various layers of genomic architecture are influencing a phenotype in health and disease. (yale.edu)
  • Government health authorities estimate that one-third of all children born in the United States since the year 2000 will get this disease at some point in their lives, possibly knocking decades off their life expectancies. (naturalnews.com)
  • The development and adoption of the health-for-all policy for the twenty-first century provides an opportunity to give action against noncommunicable diseases high priority. (who.int)
  • A genetic mutation in this protein is the basis for a rare inherited form of Parkinson's disease. (michaeljfox.org)
  • The underlying mechanisms vary depending on the disease. (wikipedia.org)
  • Sebaceous adenitis in an uncommon skin disease found in some breeds of dog, and more rarely in cats, rabbits and horses. (wikipedia.org)
  • Difficulty performing familiar tasks- Once-routine tasks that require sequential steps, such as cooking, become a struggle as the disease progresses. (gtldna.com.au)
  • How this disease progresses is different in each case and is the subject of much discussion. (nursingcenter.com)
  • To test whether this reflects differential genetic influences on CAD-risk in subjects with T2D, we performed a systematic assessment of genetic overlap between CAD and T2D in 66,643 subjects (27,708 with CAD and 24,259 with T2D). (ox.ac.uk)
  • We found that higher genetic risk for ADHD was associated with cognitive decline and development of Alzheimer's pathology, suggesting that it can increase the risk of developing AD," Leffa said. (medscape.com)
  • Our findings suggest that participants with higher genetic risk for ADHD may be more susceptible to the cognitive impairment associated with amyloid deposition," he added. (medscape.com)
  • Prion diseases are fatal, irreversible, and transmissible brain proteinopathies caused by abnormal aggregated prion protein (PrP Sc ) converted from normal prion protein (PrP C ), which is encoded by the prion protein gene ( PRNP ) ( 1 - 3 ). (cdc.gov)
  • Constipation is a common, nonmotor manifestation of Parkinson's disease (PD) that can impact the quality of life of people with the condition. (michaeljfox.org)
  • [3] Treating people who have strep throat with antibiotics can decrease the risk of rheumatic heart disease. (wikipedia.org)
  • We didn't expect that people who lived so long ago already had the genetic setup for getting such kinds of diseases. (livescience.com)
  • But in recent research, as scientists conducted CT scans on mummies from the Aleutian Islands to ancient Egypt, they realized that heart disease and atherosclerosis were prevalent throughout antiquity , in people who had dramatically different diets and lifestyles, he said. (livescience.com)
  • With genetic analysis, a person can benefit from timely interventions and gene-targeted treatments. (livemint.com)
  • Aggregation of the protein alpha-synuclein is found in Lewy bodies, a pathological hallmark of Parkinson's disease. (michaeljfox.org)
  • This study found no evidence that the genetic architecture of CAD differs in those with T2D compared to those without T2D. (ox.ac.uk)
  • However, Stanford University School of Medicine investigators have found a specific nutrient -- beta carotene -- may also impact the genetic risk and could offer protection from the disease. (naturalnews.com)
  • [6] Coronary artery disease, stroke, and peripheral artery disease involve atherosclerosis . (wikipedia.org)
  • Past research has revealed that Ötzi likely suffered from joint pain, Lyme disease and tooth decay, and computed tomography (CT) scanning revealed calcium buildups, a sign of atherosclerosis, in his arteries. (livescience.com)
  • Initially, the atherosclerosis was a bit of a surprise, because much research has linked heart disease to the couch-potato lifestyle and calorie-rich foods of the modern world, Zink said. (livescience.com)
  • In October 2016, the American Association for Cancer Research organized the AACR Childhood Cancer Predisposition Workshop in which international experts in pediatric cancer predisposition met to establish surveillance guidelines for children with cancer predisposition. (nih.gov)
  • Identifying for whom, when, why, and how these cancer predisposition surveillance guidelines should be implemented is essential. (nih.gov)
  • The genetic counseling and testing processes are reviewed, and the psychologic impact related to surveillance is explored. (nih.gov)
  • Specific, measurable physical traits used to determine or indicate the effects or progress of a disease or condition. (michaeljfox.org)
  • It frequently is associated with an internal disease or condition. (dermnetnz.org)
  • From a genetic point of view, the twins were thus identical. (eurekalert.org)
  • Using identical twins enabled the international team of scientists to rule out the genetic influence and specifically track the immune system changes that were ultimately responsible for triggering MS in one twin. (eurekalert.org)
  • Points of entry and recommendations regarding the provision and timing of the initial and subsequent genetic counseling sessions are addressed. (nih.gov)
  • Our study will identify a possible subgroup of individuals that have a different prognosis or disease progression, and it will help us to better understand and differentiate young- versus late-onset PD. (michaeljfox.org)
  • Advancement in genetic research and testing have aided our understanding and helped us in mapping the disease at the molecular level through genetic associations. (livemint.com)
  • For the first time, the investigation and identification of polygenic diseases is a realistic proposition. (vin.com)
  • This test cannot be ordered as an individual test but only as a part of the list of diseases included in our Genetic Predisposition Test panel. (ibdna.com)
  • It is possible that a healthy-born individual runs a high risk of acquiring a deadly disease. (livemint.com)
  • Important components of the exposome include lifestyle (diet), environmental and occupational exposures, and individual genetic predisposition. (cdc.gov)
  • [9] As well as, superficial pyoderma , primary idiopathic seborrhea and other endocrine diseases. (wikipedia.org)