A mutation caused by the substitution of one nucleotide for another. This results in the DNA molecule having a change in a single base pair.
A mutation in which a codon is mutated to one directing the incorporation of a different amino acid. This substitution may result in an inactive or unstable product. (From A Dictionary of Genetics, King & Stansfield, 5th ed)
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.
A type of mutation in which a number of NUCLEOTIDES deleted from or inserted into a protein coding sequence is not divisible by three, thereby causing an alteration in the READING FRAMES of the entire coding sequence downstream of the mutation. These mutations may be induced by certain types of MUTAGENS or may occur spontaneously.
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.
The sequence of PURINES and PYRIMIDINES in nucleic acids and polynucleotides. It is also called nucleotide sequence.
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 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.
The order of amino acids as they occur in a polypeptide chain. This is referred to as the primary structure of proteins. It is of fundamental importance in determining PROTEIN CONFORMATION.
Biochemical identification of mutational changes in a nucleotide sequence.
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.
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.
The naturally occurring or experimentally induced replacement of one or more AMINO ACIDS in a protein with another. If a functionally equivalent amino acid is substituted, the protein may retain wild-type activity. Substitution may also diminish, enhance, or eliminate protein function. Experimentally induced substitution is often used to study enzyme activities and binding site properties.
Genetically engineered MUTAGENESIS at a specific site in the DNA molecule that introduces a base substitution, or an insertion or deletion.
An individual having different alleles at one or more loci regarding a specific character.
The number of mutations that occur in a specific sequence, GENE, or GENOME over a specified period of time such as years, CELL DIVISIONS, or generations.
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 gel-forming mucin that is primarily found on the surface of gastric epithelium and in the RESPIRATORY TRACT. Mucin 5AC was originally identified as two distinct proteins, however a single gene encodes the protein which gives rise to the mucin 5A and mucin 5C variants.
Process of generating a genetic MUTATION. It may occur spontaneously or be induced by MUTAGENS.
A multistage process that includes cloning, physical mapping, subcloning, determination of the DNA SEQUENCE, and information analysis.
Deletion of sequences of nucleic acids from the genetic material of an individual.
An individual in which both alleles at a given locus are identical.
The level of protein structure in which combinations of secondary protein structures (alpha helices, beta sheets, loop regions, and motifs) pack together to form folded shapes called domains. Disulfide bridges between cysteines in two different parts of the polypeptide chain along with other interactions between the chains play a role in the formation and stabilization of tertiary structure. Small proteins usually consist of only one domain but larger proteins may contain a number of domains connected by segments of polypeptide chain which lack regular secondary structure.
Short sequences (generally about 10 base pairs) of DNA that are complementary to sequences of messenger RNA and allow reverse transcriptases to start copying the adjacent sequences of mRNA. Primers are used extensively in genetic and molecular biology techniques.
The genetic constitution of the individual, comprising the ALLELES present at each GENETIC LOCUS.
The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.
An NAD+ dependent enzyme that catalyzes the oxidation of betain aldehyde to BETAINE.
Established cell cultures that have the potential to propagate indefinitely.
A set of three nucleotides in a protein coding sequence that specifies individual amino acids or a termination signal (CODON, TERMINATOR). Most codons are universal, but some organisms do not produce the transfer RNAs (RNA, TRANSFER) complementary to all codons. These codons are referred to as unassigned codons (CODONS, NONSENSE).
Models used experimentally or theoretically to study molecular shape, electronic properties, or interactions; includes analogous molecules, computer-generated graphics, and mechanical structures.
An amino acid-specifying codon that has been converted to a stop codon (CODON, TERMINATOR) by mutation. Its occurance is abnormal causing premature termination of protein translation and results in production of truncated and non-functional proteins. A nonsense mutation is one that converts an amino acid-specific codon to a stop codon.
A species of gram-negative, facultatively anaerobic, rod-shaped bacteria (GRAM-NEGATIVE FACULTATIVELY ANAEROBIC RODS) commonly found in the lower part of the intestine of warm-blooded animals. It is usually nonpathogenic, but some strains are known to produce DIARRHEA and pyogenic infections. Pathogenic strains (virotypes) are classified by their specific pathogenic mechanisms such as toxins (ENTEROTOXIGENIC ESCHERICHIA COLI), etc.
The degree of similarity between sequences of amino acids. This information is useful for the analyzing genetic relatedness of proteins and species.
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 genetic rearrangement through loss of segments of DNA or RNA, bringing sequences which are normally separated into close proximity. This deletion may be detected using cytogenetic techniques and can also be inferred from the phenotype, indicating a deletion at one specific locus.
The insertion of recombinant DNA molecules from prokaryotic and/or eukaryotic sources into a replicating vehicle, such as a plasmid or virus vector, and the introduction of the resultant hybrid molecules into recipient cells without altering the viability of those cells.
The process in which substances, either endogenous or exogenous, bind to proteins, peptides, enzymes, protein precursors, or allied compounds. Specific protein-binding measures are often used as assays in diagnostic assessments.
Genes that influence the PHENOTYPE both in the homozygous and the heterozygous state.
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).
Genes that influence the PHENOTYPE only in the homozygous state.
The arrangement of two or more amino acid or base sequences from an organism or organisms in such a way as to align areas of the sequences sharing common properties. The degree of relatedness or homology between the sequences is predicted computationally or statistically based on weights assigned to the elements aligned between the sequences. This in turn can serve as a potential indicator of the genetic relatedness between the organisms.
Mutation process that restores the wild-type PHENOTYPE in an organism possessing a mutationally altered GENOTYPE. The second "suppressor" mutation may be on a different gene, on the same gene but located at a distance from the site of the primary mutation, or in extrachromosomal genes (EXTRACHROMOSOMAL INHERITANCE).
Endogenous substances, usually proteins, which are effective in the initiation, stimulation, or termination of the genetic transcription process.
Extrachromosomal, usually CIRCULAR DNA molecules that are self-replicating and transferable from one organism to another. They are found in a variety of bacterial, archaeal, fungal, algal, and plant species. They are used in GENETIC ENGINEERING as CLONING VECTORS.
Any method used for determining the location of and relative distances between genes on a chromosome.
The uptake of naked or purified DNA by CELLS, usually meaning the process as it occurs in eukaryotic cells. It is analogous to bacterial transformation (TRANSFORMATION, BACTERIAL) and both are routinely employed in GENE TRANSFER TECHNIQUES.
Tumor suppressor genes located on the short arm of human chromosome 17 and coding for the phosphoprotein p53.
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.
A test used to determine whether or not complementation (compensation in the form of dominance) will occur in a cell with a given mutant phenotype when another mutant genome, encoding the same mutant phenotype, is introduced into that cell.
Double-stranded DNA of MITOCHONDRIA. In eukaryotes, the mitochondrial GENOME is circular and codes for ribosomal RNAs, transfer RNAs, and about 10 proteins.
Proteins produced from GENES that have acquired MUTATIONS.
A species of the genus SACCHAROMYCES, family Saccharomycetaceae, order Saccharomycetales, known as "baker's" or "brewer's" yeast. The dried form is used as a dietary supplement.
The biosynthesis of RNA carried out on a template of DNA. The biosynthesis of DNA from an RNA template is called REVERSE TRANSCRIPTION.
Proteins found in any species of bacterium.
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.
Proteins which are found in membranes including cellular and intracellular membranes. They consist of two types, peripheral and integral proteins. They include most membrane-associated enzymes, antigenic proteins, transport proteins, and drug, hormone, and lectin receptors.
Proteins prepared by recombinant DNA technology.
Sequences of DNA in the genes that are located between the EXONS. They are transcribed along with the exons but are removed from the primary gene transcript by RNA SPLICING to leave mature RNA. Some introns code for separate genes.
The relationship between the chemical structure of a compound and its biological or pharmacological activity. Compounds are often classed together because they have structural characteristics in common including shape, size, stereochemical arrangement, and distribution of functional groups.
The characteristic 3-dimensional shape of a protein, including the secondary, supersecondary (motifs), tertiary (domains) and quaternary structure of the peptide chain. PROTEIN STRUCTURE, QUATERNARY describes the conformation assumed by multimeric proteins (aggregates of more than one polypeptide chain).
Proteins found in the nucleus of a cell. Do not confuse with NUCLEOPROTEINS which are proteins conjugated with nucleic acids, that are not necessarily present in the nucleus.
A characteristic symptom complex.
A nitrosourea compound with alkylating, carcinogenic, and mutagenic properties.
DNA present in neoplastic tissue.
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.
Genotypic differences observed among individuals in a population.
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.
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.
A hypothalamic tripeptide, enzymatic degradation product of OXYTOCIN, that inhibits the release of MELANOCYTE-STIMULATING HORMONES.
Transport proteins that carry specific substances in the blood or across cell membranes.
The co-inheritance of two or more non-allelic GENES due to their being located more or less closely on the same CHROMOSOME.
The rate dynamics in chemical or physical systems.
Recombinant proteins produced by the GENETIC TRANSLATION of fused genes formed by the combination of NUCLEIC ACID REGULATORY SEQUENCES of one or more genes with the protein coding sequences of one or more genes.
A phenomenon that is observed when a small subgroup of a larger POPULATION establishes itself as a separate and isolated entity. The subgroup's GENE POOL carries only a fraction of the genetic diversity of the parental population resulting in an increased frequency of certain diseases in the subgroup, especially those diseases known to be autosomal recessive.
Identification of genetic carriers for a given trait.
Mutagenesis where the mutation is caused by the introduction of foreign DNA sequences into a gene or extragenic sequence. This may occur spontaneously in vivo or be experimentally induced in vivo or in vitro. Proviral DNA insertions into or adjacent to a cellular proto-oncogene can interrupt GENETIC TRANSLATION of the coding sequences or interfere with recognition of regulatory elements and cause unregulated expression of the proto-oncogene resulting in tumor formation.
A category of nucleic acid sequences that function as units of heredity and which code for the basic instructions for the development, reproduction, and maintenance of organisms.
Production of new arrangements of DNA by various mechanisms such as assortment and segregation, CROSSING OVER; GENE CONVERSION; GENETIC TRANSFORMATION; GENETIC CONJUGATION; GENETIC TRANSDUCTION; or mixed infection of viruses.
A sequence of amino acids in a polypeptide or of nucleotides in DNA or RNA that is similar across multiple species. A known set of conserved sequences is represented by a CONSENSUS SEQUENCE. AMINO ACID MOTIFS are often composed of conserved sequences.
CELL LINES derived from the CV-1 cell line by transformation with a replication origin defective mutant of SV40 VIRUS, which codes for wild type large T antigen (ANTIGENS, POLYOMAVIRUS TRANSFORMING). They are used for transfection and cloning. (The CV-1 cell line was derived from the kidney of an adult male African green monkey (CERCOPITHECUS AETHIOPS).)
The period in the ESTROUS CYCLE associated with maximum sexual receptivity and fertility in non-primate female mammals.
A latent susceptibility to disease at the genetic level, which may be activated under certain conditions.
The functional hereditary units of BACTERIA.
Use of restriction endonucleases to analyze and generate a physical map of genomes, genes, or other segments of DNA.
The magnitude of INBREEDING in humans.
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.
The ultimate exclusion of nonsense sequences or intervening sequences (introns) before the final RNA transcript is sent to the cytoplasm.
The level of protein structure in which regular hydrogen-bond interactions within contiguous stretches of polypeptide chain give rise to alpha helices, beta strands (which align to form beta sheets) or other types of coils. This is the first folding level of protein conformation.
Proteins obtained from the species SACCHAROMYCES CEREVISIAE. The function of specific proteins from this organism are the subject of intense scientific interest and have been used to derive basic understanding of the functioning similar proteins in higher eukaryotes.
Products of proto-oncogenes. Normally they do not have oncogenic or transforming properties, but are involved in the regulation or differentiation of cell growth. They often have protein kinase activity.
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.
Genes that have a suppressor allele or suppressor mutation (SUPPRESSION, GENETIC) which cancels the effect of a previous mutation, enabling the wild-type phenotype to be maintained or partially restored. For example, amber suppressors cancel the effect of an AMBER NONSENSE MUTATION.
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 proportion of one particular in the total of all ALLELES for one genetic locus in a breeding POPULATION.
Single-stranded complementary DNA synthesized from an RNA template by the action of RNA-dependent DNA polymerase. cDNA (i.e., complementary DNA, not circular DNA, not C-DNA) is used in a variety of molecular cloning experiments as well as serving as a specific hybridization probe.
A raf kinase subclass found at high levels in neuronal tissue. The B-raf Kinases are MAP kinase kinase kinases that have specificity for MAP KINASE KINASE 1 and MAP KINASE KINASE 2.
The property of objects that determines the direction of heat flow when they are placed in direct thermal contact. The temperature is the energy of microscopic motions (vibrational and translational) of the particles of atoms.
The functional hereditary units of FUNGI.
Chemical agents that increase the rate of genetic mutation by interfering with the function of nucleic acids. A clastogen is a specific mutagen that causes breaks in chromosomes.
That part of the genome that corresponds to the complete complement of EXONS of an organism or cell.
A subfamily in the family MURIDAE, comprising the hamsters. Four of the more common genera are Cricetus, CRICETULUS; MESOCRICETUS; and PHODOPUS.
The process of cumulative change at the level of DNA; RNA; and PROTEINS, over successive generations.
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.
Cells propagated in vitro in special media conducive to their growth. Cultured cells are used to study developmental, morphologic, metabolic, physiologic, and genetic processes, among others.
Diminished or failed response of an organism, disease or tissue to the intended effectiveness of a chemical or drug. It should be differentiated from DRUG TOLERANCE which is the progressive diminution of the susceptibility of a human or animal to the effects of a drug, as a result of continued administration.
Mice bearing mutant genes which are phenotypically expressed in the animals.
Actual loss of portion of a chromosome.
Synthetic or natural oligonucleotides used in hybridization studies in order to identify and study specific nucleic acid fragments, e.g., DNA segments near or within a specific gene locus or gene. The probe hybridizes with a specific mRNA, if present. Conventional techniques used for testing for the hybridization product include dot blot assays, Southern blot assays, and DNA:RNA hybrid-specific antibody tests. Conventional labels for the probe include the radioisotope labels 32P and 125I and the chemical label biotin.
Proteins found in any species of fungus.
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).
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.
Commonly observed structural components of proteins formed by simple combinations of adjacent secondary structures. A commonly observed structure may be composed of a CONSERVED SEQUENCE which can be represented by a CONSENSUS SEQUENCE.
A species of CERCOPITHECUS containing three subspecies: C. tantalus, C. pygerythrus, and C. sabeus. They are found in the forests and savannah of Africa. The African green monkey (C. pygerythrus) is the natural host of SIMIAN IMMUNODEFICIENCY VIRUS and is used in AIDS research.
Nucleotide sequences located at the ends of EXONS and recognized in pre-messenger RNA by SPLICEOSOMES. They are joined during the RNA SPLICING reaction, forming the junctions between exons.
Deoxyribonucleic acid that makes up the genetic material of bacteria.
Proteins which maintain the transcriptional quiescence of specific GENES or OPERONS. Classical repressor proteins are DNA-binding proteins that are normally bound to the OPERATOR REGION of an operon, or the ENHANCER SEQUENCES of a gene until a signal occurs that causes their release.
A method (first developed by E.M. Southern) for detection of DNA that has been electrophoretically separated and immobilized by blotting on nitrocellulose or other type of paper or nylon membrane followed by hybridization with labeled NUCLEIC ACID PROBES.
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.
A mutation named with the blend of insertion and deletion. It refers to a length difference between two ALLELES where it is unknowable if the difference was originally caused by a SEQUENCE INSERTION or by a SEQUENCE DELETION. If the number of nucleotides in the insertion/deletion is not divisible by three, and it occurs in a protein coding region, it is also a FRAMESHIFT MUTATION.
Nuclear phosphoprotein encoded by the p53 gene (GENES, P53) whose normal function is to control CELL PROLIFERATION and APOPTOSIS. A mutant or absent p53 protein has been found in LEUKEMIA; OSTEOSARCOMA; LUNG CANCER; and COLORECTAL CANCER.
The phenotypic manifestation of a gene or genes by the processes of GENETIC TRANSCRIPTION and GENETIC TRANSLATION.
A variation of the PCR technique in which cDNA is made from RNA via reverse transcription. The resultant cDNA is then amplified using standard PCR protocols.
The introduction of a phosphoryl group into a compound through the formation of an ester bond between the compound and a phosphorus moiety.
The first continuously cultured human malignant CELL LINE, derived from the cervical carcinoma of Henrietta Lacks. These cells are used for VIRUS CULTIVATION and antitumor drug screening assays.
Proteins obtained from ESCHERICHIA COLI.
Differential and non-random reproduction of different genotypes, operating to alter the gene frequencies within a population.
The ability of microorganisms, especially bacteria, to resist or to become tolerant to chemotherapeutic agents, antimicrobial agents, or antibiotics. This resistance may be acquired through gene mutation or foreign DNA in transmissible plasmids (R FACTORS).
Family of retrovirus-associated DNA sequences (ras) originally isolated from Harvey (H-ras, Ha-ras, rasH) and Kirsten (K-ras, Ki-ras, rasK) murine sarcoma viruses. Ras genes are widely conserved among animal species and sequences corresponding to both H-ras and K-ras genes have been detected in human, avian, murine, and non-vertebrate genomes. The closely related N-ras gene has been detected in human neuroblastoma and sarcoma cell lines. All genes of the family have a similar exon-intron structure and each encodes a p21 protein.
The ability of viruses to resist or to become tolerant to chemotherapeutic agents or antiviral agents. This resistance is acquired through gene mutation.
An ethnic group with historical ties to the land of ISRAEL and the religion of JUDAISM.
The sequential correspondence of nucleotides in one nucleic acid molecule with those of another nucleic acid molecule. Sequence homology is an indication of the genetic relatedness of different organisms and gene function.
Proteins that originate from insect species belonging to the genus DROSOPHILA. The proteins from the most intensely studied species of Drosophila, DROSOPHILA MELANOGASTER, are the subject of much interest in the area of MORPHOGENESIS and development.
The spatial arrangement of the atoms of a nucleic acid or polynucleotide that results in its characteristic 3-dimensional shape.
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.
A group of deoxyribonucleotides (up to 12) in which the phosphate residues of each deoxyribonucleotide act as bridges in forming diester linkages between the deoxyribose moieties.
Diffusible gene products that act on homologous or heterologous molecules of viral or cellular DNA to regulate the expression of proteins.
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.
Identification of proteins or peptides that have been electrophoretically separated by blot transferring from the electrophoresis gel to strips of nitrocellulose paper, followed by labeling with antibody probes.
Genetic diseases that are linked to gene mutations on the X CHROMOSOME in humans (X CHROMOSOME, HUMAN) or the X CHROMOSOME in other species. Included here are animal models of human X-linked diseases.
A non-essential amino acid. It is found primarily in gelatin and silk fibroin and used therapeutically as a nutrient. It is also a fast inhibitory neurotransmitter.
Hereditary, progressive degeneration of the neuroepithelium of the retina characterized by night blindness and progressive contraction of the visual field.
Laboratory mice that have been produced from a genetically manipulated EGG or EMBRYO, MAMMALIAN.
A transfer RNA which is specific for carrying leucine to sites on the ribosomes in preparation for protein synthesis.
A non-essential amino acid that occurs in high levels in its free state in plasma. It is produced from pyruvate by transamination. It is involved in sugar and acid metabolism, increases IMMUNITY, and provides energy for muscle tissue, BRAIN, and the CENTRAL NERVOUS SYSTEM.
Cell changes manifested by escape from control mechanisms, increased growth potential, alterations in the cell surface, karyotypic abnormalities, morphological and biochemical deviations from the norm, and other attributes conferring the ability to invade, metastasize, and kill.
An essential amino acid that is physiologically active in the L-form.
A mitochondrial disorder characterized by focal or generalized seizures, episodes of transient or persistent neurologic dysfunction resembling strokes, and ragged-red fibers on muscle biopsy. Affected individuals tend to be normal at birth through early childhood, then experience growth failure, episodic vomiting, and recurrent cerebral insults resulting in visual loss and hemiparesis. The cortical lesions tend to occur in the parietal and occipital lobes and are not associated with vascular occlusion. VASCULAR HEADACHE is frequently associated and the disorder tends to be familial. (From Joynt, Clinical Neurology, 1992, Ch56, p117)
The process of intracellular viral multiplication, consisting of the synthesis of PROTEINS; NUCLEIC ACIDS; and sometimes LIPIDS, and their assembly into a new infectious particle.
A single nucleotide variation in a genetic sequence that occurs at appreciable frequency in the population.
Discrete segments of DNA which can excise and reintegrate to another site in the genome. Most are inactive, i.e., have not been found to exist outside the integrated state. DNA transposable elements include bacterial IS (insertion sequence) elements, Tn elements, the maize controlling elements Ac and Ds, Drosophila P, gypsy, and pogo elements, the human Tigger elements and the Tc and mariner elements which are found throughout the animal kingdom.
A species of fruit fly much used in genetics because of the large size of its chromosomes.
The process by which two molecules of the same chemical composition form a condensation product or polymer.
Small, monomeric GTP-binding proteins encoded by ras genes (GENES, RAS). The protooncogene-derived protein, PROTO-ONCOGENE PROTEIN P21(RAS), plays a role in normal cellular growth, differentiation and development. The oncogene-derived protein (ONCOGENE PROTEIN P21(RAS)) can play a role in aberrant cellular regulation during neoplastic cell transformation (CELL TRANSFORMATION, NEOPLASTIC). This enzyme was formerly listed as EC 3.6.1.47.
A bacterial DNA topoisomerase II that catalyzes ATP-dependent breakage of both strands of DNA, passage of the unbroken strands through the breaks, and rejoining of the broken strands. Gyrase binds to DNA as a heterotetramer consisting of two A and two B subunits. In the presence of ATP, gyrase is able to convert the relaxed circular DNA duplex into a superhelix. In the absence of ATP, supercoiled DNA is relaxed by DNA gyrase.
Any of the processes by which cytoplasmic or intercellular factors influence the differential control of gene action in bacteria.
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)
The ability of bacteria to resist or to become tolerant to chemotherapeutic agents, antimicrobial agents, or antibiotics. This resistance may be acquired through gene mutation or foreign DNA in transmissible plasmids (R FACTORS).
A phenotypically recognizable genetic trait which can be used to identify a genetic locus, a linkage group, or a recombination event.
A non-essential amino acid occurring in natural form as the L-isomer. It is synthesized from GLYCINE or THREONINE. It is involved in the biosynthesis of PURINES; PYRIMIDINES; and other amino acids.
Connective tissue cells which secrete an extracellular matrix rich in collagen and other macromolecules.
A heterogenous group of disorders characterized by alterations of mitochondrial metabolism that result in muscle and nervous system dysfunction. These are often multisystemic and vary considerably in age at onset (usually in the first or second decade of life), distribution of affected muscles, severity, and course. (From Adams et al., Principles of Neurology, 6th ed, pp984-5)
The female sex chromosome, being the differential sex chromosome carried by half the male gametes and all female gametes in human and other male-heterogametic species.
Skills, techniques, standards, and principles used to improve the art and symmetry of the teeth and face to improve the appearance as well as the function of the teeth, mouth, and face. (From Boucher's Clinical Dental Terminology, 4th ed, p108)
CELL LINE derived from the ovary of the Chinese hamster, Cricetulus griseus (CRICETULUS). The species is a favorite for cytogenetic studies because of its small chromosome number. The cell line has provided model systems for the study of genetic alterations in cultured mammalian cells.
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.
The loss of one allele at a specific locus, caused by a deletion mutation; or loss of a chromosome from a chromosome pair, resulting in abnormal HEMIZYGOSITY. It is detected when heterozygous markers for a locus appear monomorphic because one of the ALLELES was deleted.
Cells grown in vitro from neoplastic tissue. If they can be established as a TUMOR CELL LINE, they can be propagated in cell culture indefinitely.
Any codon that signals the termination of genetic translation (TRANSLATION, GENETIC). PEPTIDE TERMINATION FACTORS bind to the stop codon and trigger the hydrolysis of the aminoacyl bond connecting the completed polypeptide to the tRNA. Terminator codons do not specify amino acids.
Congenital absence of or defects in structures of the eye; may also be hereditary.
Deoxyribonucleic acid that makes up the genetic material of viruses.
An antineoplastic agent with alkylating properties. It also acts as a mutagen by damaging DNA and is used experimentally for that effect.
The process of moving proteins from one cellular compartment (including extracellular) to another by various sorting and transport mechanisms such as gated transport, protein translocation, and vesicular transport.
Processes involved in the formation of TERTIARY PROTEIN STRUCTURE.
Process of teaching a person to interact and communicate with a computer.
Sequences of DNA or RNA that occur in multiple copies. There are several types: INTERSPERSED REPETITIVE SEQUENCES are copies of transposable elements (DNA TRANSPOSABLE ELEMENTS or RETROELEMENTS) dispersed throughout the genome. TERMINAL REPEAT SEQUENCES flank both ends of another sequence, for example, the long terminal repeats (LTRs) on RETROVIRUSES. Variations may be direct repeats, those occurring in the same direction, or inverted repeats, those opposite to each other in direction. TANDEM REPEAT SEQUENCES are copies which lie adjacent to each other, direct or inverted (INVERTED REPEAT SEQUENCES).
A genus of small, two-winged flies containing approximately 900 described species. These organisms are the most extensively studied of all genera from the standpoint of genetics and cytology.
Histochemical localization of immunoreactive substances using labeled antibodies as reagents.
Within a eukaryotic cell, a membrane-limited body which contains chromosomes and one or more nucleoli (CELL NUCLEOLUS). The nuclear membrane consists of a double unit-type membrane which is perforated by a number of pores; the outermost membrane is continuous with the ENDOPLASMIC RETICULUM. A cell may contain more than one nucleus. (From Singleton & Sainsbury, Dictionary of Microbiology and Molecular Biology, 2d ed)
Deoxyribonucleic acid that makes up the genetic material of fungi.
A group of enzymes which catalyze the hydrolysis of ATP. The hydrolysis reaction is usually coupled with another function such as transporting Ca(2+) across a membrane. These enzymes may be dependent on Ca(2+), Mg(2+), anions, H+, or DNA.
A cell line generated from human embryonic kidney cells that were transformed with human adenovirus type 5.
Diseases caused by abnormal function of the MITOCHONDRIA. They may be caused by mutations, acquired or inherited, in mitochondrial DNA or in nuclear genes that code for mitochondrial components. They may also be the result of acquired mitochondria dysfunction due to adverse effects of drugs, infections, or other environmental causes.
Proteins found in any species of virus.
In bacteria, a group of metabolically related genes, with a common promoter, whose transcription into a single polycistronic MESSENGER RNA is under the control of an OPERATOR REGION.
The presence of apparently similar characters for which the genetic evidence indicates that different genes or different genetic mechanisms are involved in different pedigrees. In clinical settings genetic heterogeneity refers to the presence of a variety of genetic defects which cause the same disease, often due to mutations at different loci on the same gene, a finding common to many human diseases including ALZHEIMER DISEASE; CYSTIC FIBROSIS; LIPOPROTEIN LIPASE DEFICIENCY, FAMILIAL; and POLYCYSTIC KIDNEY DISEASES. (Rieger, et al., Glossary of Genetics: Classical and Molecular, 5th ed; Segen, Dictionary of Modern Medicine, 1992)
A broad category of carrier proteins that play a role in SIGNAL TRANSDUCTION. They generally contain several modular domains, each of which having its own binding activity, and act by forming complexes with other intracellular-signaling molecules. Signal-transducing adaptor proteins lack enzyme activity, however their activity can be modulated by other signal-transducing enzymes
A cell line derived from cultured tumor cells.
Genes which regulate or circumscribe the activity of other genes; specifically, genes which code for PROTEINS or RNAs which have GENE EXPRESSION REGULATION functions.
The ability of a protein to retain its structural conformation or its activity when subjected to physical or chemical manipulations.
The relationships of groups of organisms as reflected by their genetic makeup.
A group of muscle diseases associated with abnormal mitochondria function.
Individuals whose ancestral origins are in the southeastern and eastern areas of the Asian continent.
A polynucleotide consisting essentially of chains with a repeating backbone of phosphate and ribose units to which nitrogenous bases are attached. RNA is unique among biological macromolecules in that it can encode genetic information, serve as an abundant structural component of cells, and also possesses catalytic activity. (Rieger et al., Glossary of Genetics: Classical and Molecular, 5th ed)
Proteins whose abnormal expression (gain or loss) are associated with the development, growth, or progression of NEOPLASMS. Some neoplasm proteins are tumor antigens (ANTIGENS, NEOPLASM), i.e. they induce an immune reaction to their tumor. Many neoplasm proteins have been characterized and are used as tumor markers (BIOMARKERS, TUMOR) when they are detectable in cells and body fluids as monitors for the presence or growth of tumors. Abnormal expression of ONCOGENE PROTEINS is involved in neoplastic transformation, whereas the loss of expression of TUMOR SUPPRESSOR PROTEINS is involved with the loss of growth control and progression of the neoplasm.
A group of enzymes that catalyzes the phosphorylation of serine or threonine residues in proteins, with ATP or other nucleotides as phosphate donors.
Ribonucleic acid that makes up the genetic material of viruses.
A hereditary motor and sensory neuropathy transmitted most often as an autosomal dominant trait and characterized by progressive distal wasting and loss of reflexes in the muscles of the legs (and occasionally involving the arms). Onset is usually in the second to fourth decade of life. This condition has been divided into two subtypes, hereditary motor and sensory neuropathy (HMSN) types I and II. HMSN I is associated with abnormal nerve conduction velocities and nerve hypertrophy, features not seen in HMSN II. (Adams et al., Principles of Neurology, 6th ed, p1343)
The occurrence in an individual of two or more cell populations of different chromosomal constitutions, derived from a single ZYGOTE, as opposed to CHIMERISM in which the different cell populations are derived from more than one zygote.
A characteristic feature of enzyme activity in relation to the kind of substrate on which the enzyme or catalytic molecule reacts.

Over-representation of a germline RET sequence variant in patients with sporadic medullary thyroid carcinoma and somatic RET codon 918 mutation. (1/13935)

The aetiology of sporadic medullary thyroid carcinoma is unknown. About 50% harbour a somatic mutation at codon 918 of RET (M918T). To investigate whether other RET sequence variants may be associated with or predispose to the development of sporadic medullary thyroid carcinoma, we analysed genomic DNA from the germline and corresponding tumour from 50 patients to identify RET sequence variants. In one patient, tumour DNA showed a novel somatic 12 bp in-frame deletion in exon 15. More interestingly, we found that the rare polymorphism at codon 836 (c.2439C > T; S836S) occurred at a significantly higher frequency than that in control individuals without sporadic medullary thyroid carcinoma (Fisher's exact test, P = 0.03). Further, among the nine evaluable cases with germline c.2439C/T, eight also had the somatic M918T mutation in MTC DNA which was more frequent than in patients with the more common c.2439C/C (89% vs 40%, respectively; Fisher's exact test, P = 0.01). These findings suggest that the rare sequence variant at codon 836 may somehow play a role in the genesis of sporadic medullary thyroid carcinoma.  (+info)

Cooperative binding of heat shock factor to the yeast HSP82 promoter in vivo and in vitro. (2/13935)

Previous work has shown that heat shock factor (HSF) plays a central role in remodeling the chromatin structure of the yeast HSP82 promoter via constitutive interactions with its high-affinity binding site, heat shock element 1 (HSE1). The HSF-HSE1 interaction is also critical for stimulating both basal (noninduced) and induced transcription. By contrast, the function of the adjacent, inducibly occupied HSE2 and -3 is unknown. In this study, we examined the consequences of mutations in HSE1, HSE2, and HSE3 on HSF binding and transactivation. We provide evidence that in vivo, HSF binds to these three sites cooperatively. This cooperativity is seen both before and after heat shock, is required for full inducibility, and can be recapitulated in vitro on both linear and supercoiled templates. Quantitative in vitro footprinting reveals that occupancy of HSE2 and -3 by Saccharomyces cerevisiae HSF (ScHSF) is enhanced approximately 100-fold through cooperative interactions with the HSF-HSE1 complex. HSE1 point mutants, whose basal transcription is virtually abolished, are functionally compensated by cooperative interactions with HSE2 and -3 following heat shock, resulting in robust inducibility. Using a competition binding assay, we show that the affinity of recombinant HSF for the full-length HSP82 promoter is reduced nearly an order of magnitude by a single-point mutation within HSE1, paralleling the effect of these mutations on noninduced transcript levels. We propose that the remodeled chromatin phenotype previously shown for HSE1 point mutants (and lost in HSE1 deletion mutants) stems from the retention of productive, cooperative interactions between HSF and its target binding sites.  (+info)

The alphaE-catenin gene (CTNNA1) acts as an invasion-suppressor gene in human colon cancer cells. (3/13935)

The acquisition of invasiveness is a crucial step in the malignant progression of cancer. In cancers of the colon and of other organs the E-cadherin/catenin complex, which is implicated in homotypic cell-cell adhesion as well as in signal transduction, serves as a powerful inhibitor of invasion. We show here that one allele of the alphaE-catenin (CTNNA1) gene is mutated in the human colon cancer cell family HCT-8, which is identical to HCT-15, DLD-1 and HRT-18. Genetic instability, due to mutations in the HMSH6 (also called GTBP) mismatch repair gene, results in the spontaneous occurrence of invasive variants, all carrying either a mutation or exon skipping in the second alphaE-catenin allele. The alphaE-catenin gene is therefore, an invasion-suppressor gene in accordance with the two-hit model of Knudsen for tumour-suppressor genes.  (+info)

Correlation between the status of the p53 gene and survival in patients with stage I non-small cell lung carcinoma. (4/13935)

The association of p53 abnormalities with the prognosis of patients with non-small cell lung carcinoma (NSCLC) has been extensively investigated to date, however, this association is still controversial. Therefore, we investigated the prognostic significance of p53 mutations through exons 2 to 11 and p53 protein expression in 103 cases of stage I NSCLC. p53 mutations were detected in 49 of 103 (48%) tumors. Two separate mutations were detected in four tumors giving a total of 53 unique mutations in 49 tumors. Ten (19%) of mutations occurred outside exons 5-8. Positive immunohistochemical staining of p53 protein was detected in 41 of 103 (40%) tumors. The concordance rate between mutations and protein overexpression was only 69%. p53 mutations, but not expression, were significantly associated with a shortened survival of patients (P<0.001). Furthermore, we investigated the correlation between the types of p53 mutations and prognosis. p53 missense mutations rather than null mutations were associated with poor prognosis (P < 0.001 in missense mutations and P=0.243 in null mutations). These results indicated that p53 mutations, in particular missense mutations, rather than p53 expression could be a useful molecular marker for the prognosis of patients with surgically resected stage I NSCLC.  (+info)

p73 at chromosome 1p36.3 is lost in advanced stage neuroblastoma but its mutation is infrequent. (5/13935)

p73, a novel p53 family member, is a recently identified candidate neuroblastoma (NBL) suppressor gene mapped at chromosome 1p36.33 and was found to inhibit growth and induce apoptosis in cell lines. To test the hypothesis that p73 is a NBL suppressor gene, we analysed the p73 gene in primary human NBLs. Loss of heterozygosity (LOH) for p73 was observed in 19% (28/151) of informative cases which included 92 mass-screening (MS) tumors. The high frequency of p73 LOH was significantly associated with sporadic NBLs (9% vs 34%, P<0.001), N-myc amplification (10% vs 71%, P<0.001), and advanced stage (14% vs 28%, P<0.05). Both p73alpha and p73beta transcripts were detectable in only 46 of 134 (34%) NBLs at low levels by RT-PCR methods, while they were easily detectable in most breast cancers and colorectal cancers under the same conditions. They found no correlation between p73 LOH and its expression levels (P>0.1). We found two mutations out of 140 NBLs, one somatic and one germline, which result in amino acid substitutions in the C-terminal region of p73 which may affect transactivation functions, though, in the same tumor samples, no mutation of the p53 gene was observed as reported previously. These results suggest that allelic loss of the p73 gene may be a later event in NBL tumorigenesis. However, p73 is infrequently mutated in primary NBLs and may hardly function as a tumor suppressor in a classic Knudson's manner.  (+info)

RNA binding by the novel helical domain of the influenza virus NS1 protein requires its dimer structure and a small number of specific basic amino acids. (6/13935)

The RNA-binding/dimerization domain of the NS1 protein of influenza A virus (73 amino acids in length) exhibits a novel dimeric six-helical fold. It is not known how this domain binds to its specific RNA targets, one of which is double-stranded RNA. To elucidate the mode of RNA binding, we introduced single alanine replacements into the NS1 RNA-binding domain at specific positions in the three-dimensional structure. Our results indicate that the dimer structure is essential for RNA binding, because any alanine replacement that causes disruption of the dimer also leads to the loss of RNA-binding activity. Surprisingly, the arginine side chain at position 38, which is in the second helix of each monomer, is the only amino-acid side chain that is absolutely required only for RNA binding and not for dimerization, indicating that this side chain probably interacts directly with the RNA target. This interaction is primarily electrostatic, because replacement of this arginine with lysine had no effect on RNA binding. A second basic amino acid, the lysine at position 41, which is also in helix 2, makes a strong contribution to the affinity of binding. We conclude that helix 2 and helix 2', which are antiparallel and next to each other in the dimer conformation, constitute the interaction face between the NS1 RNA-binding domain and its RNA targets, and that the arginine side chain at position 38 and possibly the lysine side chain at position 41 in each of these antiparallel helices contact the phosphate backbone of the RNA target.  (+info)

A concise promoter region of the heart fatty acid-binding protein gene dictates tissue-appropriate expression. (7/13935)

The heart fatty acid-binding protein (HFABP) is a member of a family of binding proteins with distinct tissue distributions and diverse roles in fatty acid metabolism, trafficking, and signaling. Other members of this family have been shown to possess concise promoter regions that direct appropriate tissue-specific expression. The basis for the specific expression of the HFABP has not been previously evaluated, and the mechanisms governing expression of metabolic genes in the heart are not completely understood. We used transient and permanent transfections in ventricular myocytes, skeletal myocytes, and nonmyocytic cells to map regulatory elements in the HFABP promoter, and audited results in transgenic mice. Appropriate tissue-specific expression in cell culture and in transgenic mice was dictated by 1.2 kb of the 5'-flanking sequence of FABP3, the HFABP gene. Comparison of orthologous murine and human genomic sequences demonstrated multiple regions of near-identity within this promoter region, including a CArG-like element close to the TATA box. Binding and transactivation studies demonstrated that this element can function as an atypical myocyte enhancer-binding factor 2 site. Interactions with adjacent sites are likely to be necessary for fully appropriate, tissue-specific, developmental and metabolic regulation.  (+info)

The DNA binding activity of Translin is mediated by a basic region in the ring-shaped structure conserved in evolution. (8/13935)

DNA binding proteins, for the most part, function as dimers or tetramers which recognize their target sequences. Here we show that Translin, a novel single-stranded DNA end binding protein, forms a ring-shaped structure conserved throughout evolution and that this structure is responsible for its DNA binding activity. Point mutations at Leu184 and Leu191 in the leucine zipper motif of human Translin resulted in loss of the multimeric structure and abrogation of DNA binding. Point mutations at R86, H88, H90 to T86, N88, N90 in one of the basic regions, however, completely inhibited the DNA binding activity without affecting the multimeric structure. These results support the view that the DNA binding domain of Translin is formed in the ring-shaped structure in combination with its basic region (amino acids 86-97) polypeptides.  (+info)

Examples of syndromes include:

1. Down syndrome: A genetic disorder caused by an extra copy of chromosome 21 that affects intellectual and physical development.
2. Turner syndrome: A genetic disorder caused by a missing or partially deleted X chromosome that affects physical growth and development in females.
3. Marfan syndrome: A genetic disorder affecting the body's connective tissue, causing tall stature, long limbs, and cardiovascular problems.
4. Alzheimer's disease: A neurodegenerative disorder characterized by memory loss, confusion, and changes in personality and behavior.
5. Parkinson's disease: A neurological disorder characterized by tremors, rigidity, and difficulty with movement.
6. Klinefelter syndrome: A genetic disorder caused by an extra X chromosome in males, leading to infertility and other physical characteristics.
7. Williams syndrome: A rare genetic disorder caused by a deletion of genetic material on chromosome 7, characterized by cardiovascular problems, developmental delays, and a distinctive facial appearance.
8. Fragile X syndrome: The most common form of inherited intellectual disability, caused by an expansion of a specific gene on the X chromosome.
9. Prader-Willi syndrome: A genetic disorder caused by a defect in the hypothalamus, leading to problems with appetite regulation and obesity.
10. Sjogren's syndrome: An autoimmune disorder that affects the glands that produce tears and saliva, causing dry eyes and mouth.

Syndromes can be diagnosed through a combination of physical examination, medical history, laboratory tests, and imaging studies. Treatment for a syndrome depends on the underlying cause and the specific symptoms and signs presented by the patient.

Explanation: Genetic predisposition to disease is influenced by multiple factors, including the presence of inherited genetic mutations or variations, environmental factors, and lifestyle choices. The likelihood of developing a particular disease can be increased by inherited genetic mutations that affect the functioning of specific genes or biological pathways. For example, inherited mutations in the BRCA1 and BRCA2 genes increase the risk of developing breast and ovarian cancer.

The expression of genetic predisposition to disease can vary widely, and not all individuals with a genetic predisposition will develop the disease. Additionally, many factors can influence the likelihood of developing a particular disease, such as environmental exposures, lifestyle choices, and other health conditions.

Inheritance patterns: Genetic predisposition to disease can be inherited in an autosomal dominant, autosomal recessive, or multifactorial pattern, depending on the specific disease and the genetic mutations involved. Autosomal dominant inheritance means that a single copy of the mutated gene is enough to cause the disease, while autosomal recessive inheritance requires two copies of the mutated gene. Multifactorial inheritance involves multiple genes and environmental factors contributing to the development of the disease.

Examples of diseases with a known genetic predisposition:

1. Huntington's disease: An autosomal dominant disorder caused by an expansion of a CAG repeat in the Huntingtin gene, leading to progressive neurodegeneration and cognitive decline.
2. Cystic fibrosis: An autosomal recessive disorder caused by mutations in the CFTR gene, leading to respiratory and digestive problems.
3. BRCA1/2-related breast and ovarian cancer: An inherited increased risk of developing breast and ovarian cancer due to mutations in the BRCA1 or BRCA2 genes.
4. Sickle cell anemia: An autosomal recessive disorder caused by a point mutation in the HBB gene, leading to defective hemoglobin production and red blood cell sickling.
5. Type 1 diabetes: An autoimmune disease caused by a combination of genetic and environmental factors, including multiple genes in the HLA complex.

Understanding the genetic basis of disease can help with early detection, prevention, and treatment. For example, genetic testing can identify individuals who are at risk for certain diseases, allowing for earlier intervention and preventive measures. Additionally, understanding the genetic basis of a disease can inform the development of targeted therapies and personalized medicine."


Some common effects of chromosomal deletions include:

1. Genetic disorders: Chromosomal deletions can lead to a variety of genetic disorders, such as Down syndrome, which is caused by a deletion of a portion of chromosome 21. Other examples include Prader-Willi syndrome (deletion of chromosome 15), and Williams syndrome (deletion of chromosome 7).
2. Birth defects: Chromosomal deletions can increase the risk of birth defects, such as heart defects, cleft palate, and limb abnormalities.
3. Developmental delays: Children with chromosomal deletions may experience developmental delays, learning disabilities, and intellectual disability.
4. Increased cancer risk: Some chromosomal deletions can increase the risk of developing certain types of cancer, such as chronic myelogenous leukemia (CML) and breast cancer.
5. Reproductive problems: Chromosomal deletions can lead to reproductive problems, such as infertility or recurrent miscarriage.

Chromosomal deletions can be diagnosed through a variety of techniques, including karyotyping (examination of the chromosomes), fluorescence in situ hybridization (FISH), and microarray analysis. Treatment options for chromosomal deletions depend on the specific effects of the deletion and may include medication, surgery, or other forms of therapy.

Examples of X-linked genetic diseases include:

* Hemophilia A and B
* Duchenne muscular dystrophy
* Connexin 26 (GJB2) deafness
* Fragile X syndrome
* X-linked mental retardation
* Juvenile primary lateral sclerosis
* Myotonic dystrophy type 1

X-linked diseases can be caused by mutations in various genes, including those involved in blood clotting, muscle function, and hearing. These conditions often have a significant impact on quality of life and can be inherited from one generation to the next. However, advances in medical technology and research offer hope for improved treatments and potential cures.

Prevention of X-linked diseases is challenging but possible through various methods such as:

1. Genetic counseling: Providing information about the risks and inheritance patterns of X-linked conditions to families can help them make informed decisions about their reproductive options.
2. Prenatal testing: Testing the fetus during pregnancy can identify X-linked mutations and allow for appropriate planning and decision-making.
3. Carrier testing: Identifying carriers of X-linked conditions can help families understand their risk and make informed decisions about their reproductive options.
4. Gene therapy: Experimental treatments that correct or replace the faulty gene responsible for the condition offer hope for improved outcomes.
5. Treatment and management: Various therapeutic approaches, including medication, physical therapy, and surgery, can help manage symptoms and improve quality of life.

In conclusion, X-linked genetic diseases are a significant portion of inherited disorders that have a profound impact on families and individuals affected by them. While there is no cure for these conditions, advances in medical technology and research offer hope for improved treatments and potential cures. By understanding the causes, symptoms, diagnosis, and prevention methods, families can make informed decisions about their reproductive options and receive appropriate care and support.

The symptoms of RP can vary depending on the severity of the condition and the specific genetic mutations causing it. Common symptoms include:

* Night blindness
* Difficulty seeing in low light environments
* Blind spots or missing areas in central vision
* Difficulty reading or recognizing faces
* Sensitivity to light
* Reduced peripheral vision
* Blurred vision

There is currently no cure for RP, and treatment options are limited. However, researchers are actively working to develop new therapies and technologies to slow the progression of the disease and improve the quality of life for individuals with RP. These include:

* Gene therapy: Using viral vectors to deliver healthy copies of the missing gene to the retina in an effort to restore normal vision.

* Stem cell therapy: Transplanting healthy stem cells into the retina to replace damaged or missing cells.

* Pharmacological interventions: Developing drugs that can slow down or reverse the progression of RP by targeting specific molecular pathways.

* Retinal implants: Implanting a retinal implant, such as a retinal prosthetic, to bypass damaged or non-functional photoreceptors and directly stimulate the visual pathway.

It's important to note that these therapies are still in the experimental stage and have not yet been proven effective in humans. Therefore, individuals with RP should consult with their healthcare provider about the best treatment options available.

In summary, Retinitis Pigmentosa is a genetic disorder that causes progressive vision loss, particularly during childhood or adolescence. While there is currently no cure for RP, researchers are actively working to develop new therapies to slow down or restore vision in those affected by the disease. These include gene therapy, stem cell therapy, pharmacological interventions, and retinal implants. It's important to consult with a healthcare provider for the best treatment options available.

FAQs:

1. What is Retinitis Pigmentosa?

Retinitis Pigmentosa (RP) is a genetic disorder that causes progressive vision loss, typically during childhood or adolescence.

2. What are the symptoms of Retinitis Pigmentosa?

Symptoms of RP can vary depending on the specific mutation causing the disease, but common symptoms include difficulty seeing at night, loss of peripheral vision, and difficulty adjusting to bright light.

3. Is there a cure for Retinitis Pigmentosa?

Currently, there is no cure for RP, but researchers are actively working on developing new therapies to slow down or restore vision in those affected by the disease.

4. What are some potential treatments for Retinitis Pigmentosa?

Some potential treatments for RP include gene therapy, stem cell therapy, pharmacological interventions, and retinal implants. It's important to consult with a healthcare provider for the best treatment options available.

5. Can Retinitis Pigmentosa be prevented?

RP is a genetic disorder, so it cannot be prevented in the classical sense. However, researchers are working on developing gene therapies that can prevent or slow down the progression of the disease.

6. How does Retinitis Pigmentosa affect daily life?

Living with RP can significantly impact daily life, especially as vision loss progresses. It's important to adapt and modify daily routines, such as using assistive devices like canes or guide dogs, and seeking support from family and friends.

7. What resources are available for those affected by Retinitis Pigmentosa?

There are a variety of resources available for those affected by RP, including support groups, advocacy organizations, and online communities. These resources can provide valuable information, support, and connections with others who understand the challenges of living with the disease.

Some examples of multiple abnormalities include:

1. Multiple chronic conditions: An individual may have multiple chronic conditions such as diabetes, hypertension, arthritis, and heart disease, which can affect their quality of life and increase their risk of complications.
2. Congenital anomalies: Some individuals may be born with multiple physical abnormalities or birth defects, such as heart defects, limb abnormalities, or facial deformities.
3. Mental health disorders: Individuals may experience multiple mental health disorders, such as depression, anxiety, and bipolar disorder, which can impact their cognitive functioning and daily life.
4. Neurological conditions: Some individuals may have multiple neurological conditions, such as epilepsy, Parkinson's disease, and stroke, which can affect their cognitive and physical functioning.
5. Genetic disorders: Individuals with genetic disorders, such as Down syndrome or Turner syndrome, may experience a range of physical and developmental abnormalities.

The term "multiple abnormalities" is often used in medical research and clinical practice to describe individuals who have complex health needs and require comprehensive care. It is important for healthcare providers to recognize and address the multiple needs of these individuals to improve their overall health outcomes.

Explanation: Neoplastic cell transformation is a complex process that involves multiple steps and can occur as a result of genetic mutations, environmental factors, or a combination of both. The process typically begins with a series of subtle changes in the DNA of individual cells, which can lead to the loss of normal cellular functions and the acquisition of abnormal growth and reproduction patterns.

Over time, these transformed cells can accumulate further mutations that allow them to survive and proliferate despite adverse conditions. As the transformed cells continue to divide and grow, they can eventually form a tumor, which is a mass of abnormal cells that can invade and damage surrounding tissues.

In some cases, cancer cells can also break away from the primary tumor and travel through the bloodstream or lymphatic system to other parts of the body, where they can establish new tumors. This process, known as metastasis, is a major cause of death in many types of cancer.

It's worth noting that not all transformed cells will become cancerous. Some forms of cellular transformation, such as those that occur during embryonic development or tissue regeneration, are normal and necessary for the proper functioning of the body. However, when these transformations occur in adult tissues, they can be a sign of cancer.

See also: Cancer, Tumor

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The symptoms of MELAS syndrome can vary in severity and may include:

* Muscle weakness and wasting
* Seizures
* Stroke-like episodes
* Lactic acidosis (a buildup of lactic acid in the blood)
* Encephalopathy (damage to the brain)
* Vision loss
* Hearing loss
* Cognitive impairment
* Behavioral changes
* Autism

The diagnosis of MELAS syndrome is based on a combination of clinical findings, laboratory tests, and genetic analysis. Treatment is focused on managing the symptoms and preventing complications. This may include medications to control seizures, physical therapy to improve muscle strength and function, and dietary changes to manage lactic acidosis.

MELAS syndrome is a rare condition, and there is currently no cure. However, with proper management, individuals with MELAS syndrome can lead relatively normal lives. It is important for individuals with this condition to receive ongoing medical care and monitoring to manage their symptoms and prevent complications.

Mitochondrial encephalomyopathies can be classified into several types based on the specific symptoms and the location of the mutations in the mitochondrial DNA. Some of the most common forms of these disorders include:

1. MELAS syndrome (mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes): This is a rare condition that affects the brain, muscles, and other organs. It is characterized by recurrent stroke-like episodes, seizures, and muscle weakness.
2. Kearns-Sayre syndrome: This is a rare genetic disorder that affects the nervous system and the muscles. It is characterized by progressive weakness and paralysis of the muscles, as well as vision loss and cognitive impairment.
3. Chronic progressive external ophthalmoplegia (CPEO): This is a rare disorder that affects the muscles of the eyes and the extraocular system. It is characterized by progressive weakness of the eye muscles, which can lead to droopy eyelids, double vision, and other vision problems.
4. Mitochondrial DNA depletion syndrome: This is a group of disorders that are caused by a decrease in the amount of mitochondrial DNA. These disorders can affect various parts of the body, including the brain, muscles, and other organs. They can cause a wide range of symptoms, including muscle weakness, seizures, and vision loss.
5. Myoclonic dystonia: This is a rare genetic disorder that affects the muscles and the nervous system. It is characterized by muscle stiffness, spasms, and myoclonus (involuntary jerky movements).
6. Neuronal ceroid lipofuscinoses (NCL): These are a group of rare genetic disorders that affect the brain and the nervous system. They can cause progressive loss of cognitive and motor functions, as well as vision loss and seizures.
7. Spinocerebellar ataxia: This is a group of rare genetic disorders that affect the cerebellum and the spinal cord. They can cause progressive weakness, coordination problems, and other movement disorders.
8. Friedreich's ataxia: This is a rare genetic disorder that affects the nervous system and the muscles. It is characterized by progressive loss of coordination and balance, as well as muscle weakness and wasting.
9. Charcot-Marie-Tooth disease: This is a group of rare genetic disorders that affect the peripheral nerves. They can cause muscle weakness, numbness or tingling in the hands and feet, and other problems with movement and sensation.
10. Progressive supranuclear palsy: This is a rare genetic disorder that affects the brain and the nervous system. It is characterized by progressive loss of movement control, as well as dementia and behavioral changes.

It is important to note that this list is not exhaustive and there may be other rare movement disorders that are not included here. If you suspect that you or a loved one may have a rare movement disorder, it is important to consult with a healthcare professional for proper diagnosis and treatment.

Some common types of eye abnormalities include:

1. Refractive errors: These are errors in the way the eye focuses light, causing blurry vision. Examples include myopia (nearsightedness), hyperopia (farsightedness), astigmatism, and presbyopia (age-related loss of near vision).
2. Amblyopia: This is a condition where the brain favors one eye over the other, causing poor vision in the weaker eye.
3. Cataracts: A cataract is a clouding of the lens in the eye that can cause blurry vision and increase the risk of glaucoma.
4. Glaucoma: This is a group of eye conditions that can damage the optic nerve and lead to vision loss.
5. Macular degeneration: This is a condition where the macula, the part of the retina responsible for central vision, deteriorates, leading to vision loss.
6. Diabetic retinopathy: This is a complication of diabetes that can damage the blood vessels in the retina and lead to vision loss.
7. Retinal detachment: This is a condition where the retina becomes separated from the underlying tissue, leading to vision loss.
8. Corneal abnormalities: These are irregularities in the shape or structure of the cornea, such as keratoconus, that can cause blurry vision.
9. Optic nerve disorders: These are conditions that affect the optic nerve, such as optic neuritis, that can cause vision loss.
10. Traumatic eye injuries: These are injuries to the eye or surrounding tissue that can cause vision loss or other eye abnormalities.

Eye abnormalities can be diagnosed through a comprehensive eye exam, which may include visual acuity tests, refraction tests, and imaging tests such as retinal photography or optical coherence tomography (OCT). Treatment for eye abnormalities depends on the specific condition and may include glasses or contact lenses, medication, surgery, or other therapies.

Mitochondrial diseases can affect anyone, regardless of age or gender, and they can be caused by mutations in either the mitochondrial DNA (mtDNA) or the nuclear DNA (nDNA). These mutations can be inherited from one's parents or acquired during embryonic development.

Some of the most common symptoms of mitochondrial diseases include:

1. Muscle weakness and wasting
2. Seizures
3. Cognitive impairment
4. Vision loss
5. Hearing loss
6. Heart problems
7. Neurological disorders
8. Gastrointestinal issues
9. Liver and kidney dysfunction

Some examples of mitochondrial diseases include:

1. MELAS syndrome (Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-like episodes)
2. Kearns-Sayre syndrome (a rare progressive disorder that affects the nervous system and other organs)
3. Chronic progressive external ophthalmoplegia (CPEO), which is characterized by weakness of the extraocular muscles and vision loss
4. Mitochondrial DNA depletion syndrome, which can cause a wide range of symptoms including seizures, developmental delays, and muscle weakness.
5. Mitochondrial myopathy, encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS)
6. Leigh syndrome, which is a rare genetic disorder that affects the brain and spinal cord.
7. LHON (Leber's Hereditary Optic Neuropathy), which is a rare form of vision loss that can lead to blindness in one or both eyes.
8. Mitochondrial DNA mutation, which can cause a wide range of symptoms including seizures, developmental delays, and muscle weakness.
9. Mitochondrial myopathy, encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS)
10. Kearns-Sayre syndrome, which is a rare progressive disorder that affects the nervous system and other organs.

It's important to note that this is not an exhaustive list and there are many more mitochondrial diseases and disorders that can affect individuals. Additionally, while these diseases are rare, they can have a significant impact on the quality of life of those affected and their families.

There are several types of mitochondrial myopathies, each with different clinical features and inheritance patterns. Some of the most common forms include:

1. Kearns-Sayre syndrome: This is a rare progressive disorder that affects the nervous system, muscles, and other organs. It is characterized by weakness and paralysis, seizures, and vision loss.
2. MELAS syndrome (mitochondrial myopathy, encephalomyopathy, lactic acidosis, and stroke-like episodes): This condition is characterized by recurring stroke-like episodes, seizures, muscle weakness, and cognitive decline.
3. MERRF (myoclonic epilepsy with ragged red fibers): This disorder is characterized by myoclonus (muscle jerks), seizures, and progressive muscle weakness.
4. LHON (Leber's hereditary optic neuropathy): This condition affects the optic nerve and can lead to sudden vision loss.

The symptoms of mitochondrial myopathies can vary widely, depending on the specific disorder and the severity of the mutation. They may include muscle weakness, muscle cramps, muscle wasting, seizures, vision loss, and cognitive decline.

There is no cure for mitochondrial myopathies, but various treatments can help manage the symptoms. These may include physical therapy, medications to control seizures or muscle spasms, and nutritional supplements to support energy production. In some cases, a lung or heart-lung transplant may be necessary.

The diagnosis of a mitochondrial myopathy is based on a combination of clinical findings, laboratory tests, and genetic analysis. Laboratory tests may include blood tests to measure the levels of certain enzymes and other molecules in the body, as well as muscle biopsy to examine the muscle tissue under a microscope. Genetic testing can help identify the specific mutation responsible for the condition.

The prognosis for mitochondrial myopathies varies depending on the specific disorder and the severity of the symptoms. Some forms of the disease are slowly progressive, while others may be more rapidly debilitating. In general, the earlier the diagnosis and treatment, the better the outcome.

There is currently no cure for mitochondrial myopathies, but research is ongoing to develop new treatments and therapies. In addition, there are several organizations and support groups that provide information and resources for individuals with these conditions and their families.

CMT is caused by mutations in genes that are responsible for producing proteins that support the structure and function of the peripheral nerves. These mutations lead to a progressive loss of nerve fibers, particularly in the legs and feet, but also in the hands and arms. As a result, people with CMT often experience muscle weakness, numbness or tingling sensations, and foot deformities such as hammertoes and high arches. They may also have difficulty walking, balance problems, and decreased reflexes.

There are several types of Charcot-Marie-Tooth disease, each with different symptoms and progression. Type 1 is the most common form and typically affects children, while type 2 is more severe and often affects adults. Other types include type 3, which causes muscle weakness and atrophy, and type 4, which affects the hands and feet but not the legs.

There is no cure for Charcot-Marie-Tooth disease, but there are several treatments available to manage its symptoms. These may include physical therapy, braces or orthotics, pain medication, and surgery. In some cases, a stem cell transplant may be recommended to replace damaged nerve cells with healthy ones.

Early diagnosis of Charcot-Marie-Tooth disease is important to ensure proper management and prevention of complications. Treatment can help improve quality of life and slow the progression of the disease. With appropriate support and accommodations, people with CMT can lead active and fulfilling lives.

1) They share similarities with humans: Many animal species share similar biological and physiological characteristics with humans, making them useful for studying human diseases. For example, mice and rats are often used to study diseases such as diabetes, heart disease, and cancer because they have similar metabolic and cardiovascular systems to humans.

2) They can be genetically manipulated: Animal disease models can be genetically engineered to develop specific diseases or to model human genetic disorders. This allows researchers to study the progression of the disease and test potential treatments in a controlled environment.

3) They can be used to test drugs and therapies: Before new drugs or therapies are tested in humans, they are often first tested in animal models of disease. This allows researchers to assess the safety and efficacy of the treatment before moving on to human clinical trials.

4) They can provide insights into disease mechanisms: Studying disease models in animals can provide valuable insights into the underlying mechanisms of a particular disease. This information can then be used to develop new treatments or improve existing ones.

5) Reduces the need for human testing: Using animal disease models reduces the need for human testing, which can be time-consuming, expensive, and ethically challenging. However, it is important to note that animal models are not perfect substitutes for human subjects, and results obtained from animal studies may not always translate to humans.

6) They can be used to study infectious diseases: Animal disease models can be used to study infectious diseases such as HIV, TB, and malaria. These models allow researchers to understand how the disease is transmitted, how it progresses, and how it responds to treatment.

7) They can be used to study complex diseases: Animal disease models can be used to study complex diseases such as cancer, diabetes, and heart disease. These models allow researchers to understand the underlying mechanisms of the disease and test potential treatments.

8) They are cost-effective: Animal disease models are often less expensive than human clinical trials, making them a cost-effective way to conduct research.

9) They can be used to study drug delivery: Animal disease models can be used to study drug delivery and pharmacokinetics, which is important for developing new drugs and drug delivery systems.

10) They can be used to study aging: Animal disease models can be used to study the aging process and age-related diseases such as Alzheimer's and Parkinson's. This allows researchers to understand how aging contributes to disease and develop potential treatments.

There are several types of deafness, including:

1. Conductive hearing loss: This type of deafness is caused by problems with the middle ear, including the eardrum or the bones of the middle ear. It can be treated with hearing aids or surgery.
2. Sensorineural hearing loss: This type of deafness is caused by damage to the inner ear or auditory nerve. It is typically permanent and cannot be treated with medication or surgery.
3. Mixed hearing loss: This type of deafness is a combination of conductive and sensorineural hearing loss.
4. Auditory processing disorder (APD): This is a condition in which the brain has difficulty processing sounds, even though the ears are functioning normally.
5. Tinnitus: This is a condition characterized by ringing or other sounds in the ears when there is no external source of sound. It can be a symptom of deafness or a separate condition.

There are several ways to diagnose deafness, including:

1. Hearing tests: These can be done in a doctor's office or at a hearing aid center. They involve listening to sounds through headphones and responding to them.
2. Imaging tests: These can include X-rays, CT scans, or MRI scans to look for any physical abnormalities in the ear or brain.
3. Auditory brainstem response (ABR) testing: This is a test that measures the electrical activity of the brain in response to sound. It can be used to diagnose hearing loss in infants and young children.
4. Otoacoustic emissions (OAE) testing: This is a test that measures the sounds produced by the inner ear in response to sound. It can be used to diagnose hearing loss in infants and young children.

There are several ways to treat deafness, including:

1. Hearing aids: These are devices that amplify sound and can be worn in or behind the ear. They can help improve hearing for people with mild to severe hearing loss.
2. Cochlear implants: These are devices that are implanted in the inner ear and can bypass damaged hair cells to directly stimulate the auditory nerve. They can help restore hearing for people with severe to profound hearing loss.
3. Speech therapy: This can help people with hearing loss improve their communication skills, such as speaking and listening.
4. Assistive technology: This can include devices such as captioned phones, alerting systems, and assistive listening devices that can help people with hearing loss communicate more effectively.
5. Medications: There are several medications available that can help treat deafness, such as antibiotics for bacterial infections or steroids to reduce inflammation.
6. Surgery: In some cases, surgery may be necessary to treat deafness, such as when there is a blockage in the ear or when a tumor is present.
7. Stem cell therapy: This is a relatively new area of research that involves using stem cells to repair damaged hair cells in the inner ear. It has shown promising results in some studies.
8. Gene therapy: This involves using genes to repair or replace damaged or missing genes that can cause deafness. It is still an experimental area of research, but it has shown promise in some studies.
9. Implantable devices: These are devices that are implanted in the inner ear and can help restore hearing by bypassing damaged hair cells. Examples include cochlear implants and auditory brainstem implants.
10. Binaural hearing: This involves using a combination of hearing aids and technology to improve hearing in both ears, which can help improve speech recognition and reduce the risk of falls.

It's important to note that the best treatment for deafness will depend on the underlying cause of the condition, as well as the individual's age, overall health, and personal preferences. It's important to work with a healthcare professional to determine the best course of treatment.

These disorders are caused by changes in specific genes that fail to function properly, leading to a cascade of effects that can damage cells and tissues throughout the body. Some inherited diseases are the result of single gene mutations, while others are caused by multiple genetic changes.

Inherited diseases can be diagnosed through various methods, including:

1. Genetic testing: This involves analyzing a person's DNA to identify specific genetic changes that may be causing the disease.
2. Blood tests: These can help identify certain inherited diseases by measuring enzyme levels or identifying specific proteins in the blood.
3. Imaging studies: X-rays, CT scans, and MRI scans can help identify structural changes in the body that may be indicative of an inherited disease.
4. Physical examination: A healthcare provider may perform a physical examination to look for signs of an inherited disease, such as unusual physical features or abnormalities.

Inherited diseases can be treated in various ways, depending on the specific condition and its causes. Some treatments include:

1. Medications: These can help manage symptoms and slow the progression of the disease.
2. Surgery: In some cases, surgery may be necessary to correct physical abnormalities or repair damaged tissues.
3. Gene therapy: This involves using genes to treat or prevent inherited diseases.
4. Rehabilitation: Physical therapy, occupational therapy, and other forms of rehabilitation can help individuals with inherited diseases manage their symptoms and improve their quality of life.

Inherited diseases are a significant public health concern, as they affect millions of people worldwide. However, advances in genetic research and medical technology have led to the development of new treatments and management strategies for these conditions. By working with healthcare providers and advocacy groups, individuals with inherited diseases can access the resources and support they need to manage their conditions and improve their quality of life.

There are several types of lung neoplasms, including:

1. Adenocarcinoma: This is the most common type of lung cancer, accounting for approximately 40% of all lung cancers. It is a malignant tumor that originates in the glands of the respiratory tract and can be found in any part of the lung.
2. Squamous cell carcinoma: This type of lung cancer accounts for approximately 25% of all lung cancers and is more common in men than women. It is a malignant tumor that originates in the squamous cells lining the airways of the lungs.
3. Small cell lung cancer (SCLC): This is a highly aggressive form of lung cancer that accounts for approximately 15% of all lung cancers. It is often found in the central parts of the lungs and can spread quickly to other parts of the body.
4. Large cell carcinoma: This is a rare type of lung cancer that accounts for only about 5% of all lung cancers. It is a malignant tumor that originates in the large cells of the respiratory tract and can be found in any part of the lung.
5. Bronchioalveolar carcinoma (BAC): This is a rare type of lung cancer that originates in the cells lining the airways and alveoli of the lungs. It is more common in women than men and tends to affect older individuals.
6. Lymphangioleiomyomatosis (LAM): This is a rare, progressive, and often fatal lung disease that primarily affects women of childbearing age. It is characterized by the growth of smooth muscle-like cells in the lungs and can lead to cysts, lung collapse, and respiratory failure.
7. Hamartoma: This is a benign tumor that originates in the tissue of the lungs and is usually found in children. It is characterized by an overgrowth of normal lung tissue and can be treated with surgery.
8. Secondary lung cancer: This type of cancer occurs when cancer cells from another part of the body spread to the lungs through the bloodstream or lymphatic system. It is more common in people who have a history of smoking or exposure to other carcinogens.
9. Metastatic cancer: This type of cancer occurs when cancer cells from another part of the body spread to the lungs through the bloodstream or lymphatic system. It is more common in people who have a history of smoking or exposure to other carcinogens.
10. Mesothelioma: This is a rare and aggressive form of cancer that originates in the lining of the lungs or abdomen. It is caused by asbestos exposure and can be treated with surgery, chemotherapy, and radiation therapy.

Lung diseases can also be classified based on their cause, such as:

1. Infectious diseases: These are caused by bacteria, viruses, or other microorganisms and can include pneumonia, tuberculosis, and bronchitis.
2. Autoimmune diseases: These are caused by an overactive immune system and can include conditions such as sarcoidosis and idiopathic pulmonary fibrosis.
3. Genetic diseases: These are caused by inherited mutations in genes that affect the lungs and can include cystic fibrosis and primary ciliary dyskinesia.
4. Environmental diseases: These are caused by exposure to harmful substances such as tobacco smoke, air pollution, and asbestos.
5. Radiological diseases: These are caused by exposure to ionizing radiation and can include conditions such as radiographic breast cancer and lung cancer.
6. Vascular diseases: These are caused by problems with the blood vessels in the lungs and can include conditions such as pulmonary embolism and pulmonary hypertension.
7. Tumors: These can be benign or malignant and can include conditions such as lung metastases and lung cancer.
8. Trauma: This can include injuries to the chest or lungs caused by accidents or other forms of trauma.
9. Congenital diseases: These are present at birth and can include conditions such as bronchopulmonary foregut malformations and congenital cystic adenomatoid malformation.

Each type of lung disease has its own set of symptoms, diagnosis, and treatment options. It is important to seek medical attention if you experience any persistent or severe respiratory symptoms, as early diagnosis and treatment can improve outcomes and quality of life.

The term "Osteochondrodysplasias" comes from the Greek words "osteo," meaning bone; "chondro," meaning cartilage; and "dysplasia," meaning abnormal growth or development. These disorders can affect people of all ages, but are most commonly seen in children and young adults.

There are many different types of OCDs, each with its own unique set of symptoms and characteristics. Some of the most common types include:

* Brittle bone disease (osteogenesis imperfecta): This is a condition in which the bones are prone to fractures, often without any obvious cause.
* Camptodactyly-arthropathy-coxa vara-pericarditis (CACP) syndrome: This is a rare condition that affects the hands, feet, and joints, causing stiffness, pain, and limited mobility.
* Diaphyseal dysplasia: This is a condition in which the bones in the arms and legs are abnormally short and brittle.
* Epiphyseal dysplasia: This is a condition in which the growth plates at the ends of the long bones are abnormal, leading to short stature and other skeletal deformities.

There is no cure for OCDs, but treatment options are available to manage symptoms and improve quality of life. These may include physical therapy, braces or orthotics, medications to manage pain and inflammation, and in some cases, surgery. Early diagnosis and intervention are important to help manage the condition and prevent complications.

Definition of 'Optic Atrophy, Hereditary, Leber' in the medical field. (2018, February 27). In Medical News Today, . Retrieved from

The causes of colorectal neoplasms are not fully understood, but factors such as age, genetics, diet, and lifestyle have been implicated. Symptoms of colorectal cancer can include changes in bowel habits, blood in the stool, abdominal pain, and weight loss. Screening for colorectal cancer is recommended for adults over the age of 50, as it can help detect early-stage tumors and improve survival rates.

There are several subtypes of colorectal neoplasms, including adenomas (which are precancerous polyps), carcinomas (which are malignant tumors), and lymphomas (which are cancers of the immune system). Treatment options for colorectal cancer depend on the stage and location of the tumor, but may include surgery, chemotherapy, radiation therapy, or a combination of these.

Research into the causes and treatment of colorectal neoplasms is ongoing, and there has been significant progress in recent years. Advances in screening and treatment have improved survival rates for patients with colorectal cancer, and there is hope that continued research will lead to even more effective treatments in the future.

This type of hearing loss cannot be treated with medication or surgery, and it is usually permanent. However, there are various assistive devices and technology available to help individuals with sensorineural hearing loss communicate more effectively, such as hearing aids, cochlear implants, and FM systems.

There are several causes of sensorineural hearing loss, including:

1. Exposure to loud noises: Prolonged exposure to loud noises can damage the hair cells in the inner ear and cause permanent hearing loss.
2. Age: Sensorineural hearing loss is a common condition that affects many people as they age. It is estimated that one-third of people between the ages of 65 and 74 have some degree of hearing loss, and nearly half of those over the age of 75 have significant hearing loss.
3. Genetics: Some cases of sensorineural hearing loss are inherited and run in families.
4. Viral infections: Certain viral infections, such as meningitis or encephalitis, can damage the inner ear and cause permanent hearing loss.
5. Trauma to the head or ear: A head injury or a traumatic injury to the ear can cause sensorineural hearing loss.
6. Tumors: Certain types of tumors, such as acoustic neuroma, can cause sensorineural hearing loss by affecting the auditory nerve.
7. Ototoxicity: Certain medications, such as certain antibiotics, chemotherapy drugs, and aspirin at high doses, can be harmful to the inner ear and cause permanent hearing loss.

It is important to note that sensorineural hearing loss cannot be cured, but there are many resources available to help individuals with this condition communicate more effectively and improve their quality of life.

The exact cause of essential tremor is not known, but it is believed to be related to abnormal electrical activity in the brain, particularly in the cerebellum and thalamus. The condition can be inherited, and certain genetic mutations have been identified as risk factors. ET can also be caused by other medical conditions, such as brain injury or certain medications.

The symptoms of essential tremor can vary in severity and may worsen over time. They can include:

* Tremors that are most noticeable when the affected limb is at rest or performing a specific task, such as holding a cup or utensil
* Shaking or trembling of the hands, arms, or legs
* Head tremors or shaking
* Voice tremors or shaking
* Difficulty with fine motor skills, such as writing or drawing
* Difficulty with walking or balance
* Fatigue or weakness in the affected limbs

There is no cure for essential tremor, but various treatments can help manage the symptoms. These may include:

* Medications, such as beta blockers or anticonvulsants, to reduce shaking and tremors
* Deep brain stimulation, a surgical procedure that involves implanting an electrode in the brain to deliver electrical impulses to specific areas
* Lifestyle modifications, such as avoiding caffeine and alcohol, which can worsen tremors
* Physical therapy to improve fine motor skills and coordination
* Counseling or psychotherapy to help cope with the emotional impact of the condition.

In summary, essential tremor is a neurological disorder characterized by involuntary tremors or shaking movements of various parts of the body. It can be inherited or caused by other medical conditions, and there is no cure, but various treatments can help manage the symptoms.

There are different types of Breast Neoplasms such as:

1. Fibroadenomas: These are benign tumors that are made up of glandular and fibrous tissues. They are usually small and round, with a smooth surface, and can be moved easily under the skin.

2. Cysts: These are fluid-filled sacs that can develop in both breast tissue and milk ducts. They are usually benign and can disappear on their own or be drained surgically.

3. Ductal Carcinoma In Situ (DCIS): This is a precancerous condition where abnormal cells grow inside the milk ducts. If left untreated, it can progress to invasive breast cancer.

4. Invasive Ductal Carcinoma (IDC): This is the most common type of breast cancer and starts in the milk ducts but grows out of them and invades surrounding tissue.

5. Invasive Lobular Carcinoma (ILC): It originates in the milk-producing glands (lobules) and grows out of them, invading nearby tissue.

Breast Neoplasms can cause various symptoms such as a lump or thickening in the breast or underarm area, skin changes like redness or dimpling, change in size or shape of one or both breasts, discharge from the nipple, and changes in the texture or color of the skin.

Treatment options for Breast Neoplasms may include surgery such as lumpectomy, mastectomy, or breast-conserving surgery, radiation therapy which uses high-energy beams to kill cancer cells, chemotherapy using drugs to kill cancer cells, targeted therapy which uses drugs or other substances to identify and attack cancer cells while minimizing harm to normal cells, hormone therapy, immunotherapy, and clinical trials.

It is important to note that not all Breast Neoplasms are cancerous; some are benign (non-cancerous) tumors that do not spread or grow.

There are various causes of intellectual disability, including:

1. Genetic disorders, such as Down syndrome, Fragile X syndrome, and Turner syndrome.
2. Congenital conditions, such as microcephaly and hydrocephalus.
3. Brain injuries, such as traumatic brain injury or hypoxic-ischemic injury.
4. Infections, such as meningitis or encephalitis.
5. Nutritional deficiencies, such as iron deficiency or iodine deficiency.

Intellectual disability can result in a range of cognitive and functional impairments, including:

1. Delayed language development and difficulty with communication.
2. Difficulty with social interactions and adapting to new situations.
3. Limited problem-solving skills and difficulty with abstract thinking.
4. Slow learning and memory difficulties.
5. Difficulty with fine motor skills and coordination.

There is no cure for intellectual disability, but early identification and intervention can significantly improve outcomes. Treatment options may include:

1. Special education programs tailored to the individual's needs.
2. Behavioral therapies, such as applied behavior analysis (ABA) and positive behavior support (PBS).
3. Speech and language therapy.
4. Occupational therapy to improve daily living skills.
5. Medications to manage associated behaviors or symptoms.

It is essential to recognize that intellectual disability is a lifelong condition, but with appropriate support and resources, individuals with ID can lead fulfilling lives and reach their full potential.

Adenocarcinoma is a term used to describe a variety of different types of cancer that arise in glandular tissue, including:

1. Colorectal adenocarcinoma (cancer of the colon or rectum)
2. Breast adenocarcinoma (cancer of the breast)
3. Prostate adenocarcinoma (cancer of the prostate gland)
4. Pancreatic adenocarcinoma (cancer of the pancreas)
5. Lung adenocarcinoma (cancer of the lung)
6. Thyroid adenocarcinoma (cancer of the thyroid gland)
7. Skin adenocarcinoma (cancer of the skin)

The symptoms of adenocarcinoma depend on the location of the cancer and can include:

1. Blood in the stool or urine
2. Abdominal pain or discomfort
3. Changes in bowel habits
4. Unusual vaginal bleeding (in the case of endometrial adenocarcinoma)
5. A lump or thickening in the breast or elsewhere
6. Weight loss
7. Fatigue
8. Coughing up blood (in the case of lung adenocarcinoma)

The diagnosis of adenocarcinoma is typically made through a combination of imaging tests, such as CT scans, MRI scans, and PET scans, and a biopsy, which involves removing a sample of tissue from the affected area and examining it under a microscope for cancer cells.

Treatment options for adenocarcinoma depend on the location of the cancer and can include:

1. Surgery to remove the tumor
2. Chemotherapy, which involves using drugs to kill cancer cells
3. Radiation therapy, which involves using high-energy X-rays or other particles to kill cancer cells
4. Targeted therapy, which involves using drugs that target specific molecules on cancer cells to kill them
5. Immunotherapy, which involves using drugs that stimulate the immune system to fight cancer cells.

The prognosis for adenocarcinoma is generally good if the cancer is detected and treated early, but it can be more challenging to treat if the cancer has spread to other parts of the body.

Types of Craniofacial Abnormalities:

1. Cleft lip and palate: A congenital deformity that affects the upper jaw, nose, and mouth.
2. Premature fusion of skull bones: Can result in an abnormally shaped head or face.
3. Distraction osteogenesis: A condition where the bones fail to grow properly, leading to abnormal growth patterns.
4. Facial asymmetry: A condition where one side of the face is smaller or larger than the other.
5. Craniosynostosis: A condition where the skull bones fuse together too early, causing an abnormally shaped head.
6. Micrognathia: A condition where the lower jaw is smaller than normal, which can affect breathing and feeding.
7. Macroglossia: A condition where the tongue is larger than normal, which can cause difficulty swallowing and breathing.
8. Oculofacial dysostosis: A condition that affects the development of the eyes and face.
9. Treacher Collins syndrome: A rare genetic disorder that affects the development of the face, particularly the eyes, ears, and jaw.

Causes of Craniofacial Abnormalities:

1. Genetics: Many craniofacial abnormalities are inherited from one or both parents.
2. Environmental factors: Exposure to certain drugs, alcohol, or infections during pregnancy can increase the risk of craniofacial abnormalities.
3. Premature birth: Babies born prematurely are at a higher risk for craniofacial abnormalities.
4. Trauma: Head injuries or other traumatic events can cause craniofacial abnormalities.
5. Infections: Certain infections, such as meningitis or encephalitis, can cause craniofacial abnormalities.

Treatment of Craniofacial Abnormalities:

1. Surgery: Many craniofacial abnormalities can be treated with surgery to correct the underlying deformity.
2. Orthodontic treatment: Braces or other orthodontic devices can be used to align teeth and improve the appearance of the face.
3. Speech therapy: Certain craniofacial abnormalities, such as micrognathia, can affect speech development. Speech therapy can help improve communication skills.
4. Medication: In some cases, medication may be prescribed to manage symptoms associated with craniofacial abnormalities, such as pain or breathing difficulties.
5. Rehabilitation: Physical therapy and occupational therapy can help individuals with craniofacial abnormalities regain function and mobility after surgery or other treatments.

It is important to note that the treatment of craniofacial abnormalities varies depending on the specific condition and its severity. A healthcare professional, such as a pediatrician, orthodontist, or plastic surgeon, should be consulted for proper diagnosis and treatment.

It is also important to remember that craniofacial abnormalities can have a significant impact on an individual's quality of life, affecting their self-esteem, social relationships, and ability to function in daily activities. Therefore, it is essential to provide appropriate support and resources for individuals with these conditions, including psychological counseling, social support groups, and education about the condition.

1. Retinitis pigmentosa (RP): a group of degenerative diseases that affect the retina and cause progressive vision loss.
2. Leber congenital amaurosis (LCA): a rare inherited disorder that causes blindness or severe visual impairment at birth or in early childhood.
3. Stargardt disease: a genetic disorder that affects the retina and can cause progressive vision loss, usually starting in childhood.
4. Juvenile macular degeneration (JMD): a group of inherited conditions that affect the macula, the part of the retina responsible for central vision.
5. Persistent hyperplastic primary vitreous (PHPV): a rare inherited condition where abnormal development of the eye can cause vision loss or blindness.
6. Anophthalmia/microphthalmia: a rare inherited condition where one or both eyes are absent or severely underdeveloped.
7. ocular albinism: a genetic condition that affects the development of pigment in the eye, leading to visual impairment and increased risk of eye conditions such as cataracts and glaucoma.
8. Peter's anomaly: a rare inherited condition where there is an abnormal development of the cornea and lens of the eye, leading to vision loss or blindness.
9. cone-rod dystrophy: a group of inherited conditions that affect the retina and can cause progressive vision loss, usually starting in childhood.
10. Retinal dystrophy: a general term for a group of inherited disorders that affect the retina and can cause progressive vision loss, usually starting in adulthood.

These are just a few examples of hereditary eye diseases. There are many other conditions that can be inherited and affect the eyes. Genetic testing and counseling can help identify the risk of inheriting these conditions and provide information on how to manage and treat them.

There are several types of hereditary corneal dystrophies, each with different clinical features and modes of inheritance. Some of the most common forms include:

1. Keratoconus: This is a progressive thinning of the cornea, which can cause irregular astigmatism and visual distortion. It is the most common form of corneal dystrophy and usually affects both eyes.
2. Familial Corneal Dystrophy Type 1 (FCD1): This is an autosomal dominant disorder that affects the central cornea, causing progressive opacification and visual loss.
3. Familial Corneal Dystrophy Type 2 (FCD2): This is an autosomal recessive disorder that affects both eyes and causes progressive opacification of the peripheral cornea.
4. Granular Corneal Dystrophy (GCD): This is a rare form of corneal dystrophy characterized by the accumulation of granular material in the cornea, leading to vision loss.
5. Avellar Corneal Dystrophy: This is a rare autosomal recessive disorder that affects both eyes and causes progressive opacification of the central cornea.

The diagnosis of hereditary corneal dystrophies is based on a combination of clinical examination, imaging studies (such as optical coherence tomography), and genetic testing. Treatment options vary depending on the specific type of dystrophy and the severity of symptoms, but may include glasses or contact lenses, corneal transplantation, or phototherapeutic keratectomy.

In conclusion, hereditary corneal dystrophies are a group of genetic disorders that affect the cornea and can cause significant vision loss and blindness. Early diagnosis and treatment are crucial to prevent or slow down the progression of these diseases. Ophthalmologists play a key role in the diagnosis and management of hereditary corneal dystrophies, and genetic testing may be useful in identifying the specific type of dystrophy and guiding treatment decisions.

Benign ovarian neoplasms include:

1. Serous cystadenoma: A fluid-filled sac that develops on the surface of the ovary.
2. Mucinous cystadenoma: A tumor that is filled with mucin, a type of protein.
3. Endometrioid tumors: Tumors that are similar to endometrial tissue (the lining of the uterus).
4. Theca cell tumors: Tumors that develop in the supportive tissue of the ovary called theca cells.

Malignant ovarian neoplasms include:

1. Epithelial ovarian cancer (EOC): The most common type of ovarian cancer, which arises from the surface epithelium of the ovary.
2. Germ cell tumors: Tumors that develop from germ cells, which are the cells that give rise to eggs.
3. Stromal sarcomas: Tumors that develop in the supportive tissue of the ovary.

Ovarian neoplasms can cause symptoms such as pelvic pain, abnormal bleeding, and abdominal swelling. They can also be detected through pelvic examination, imaging tests such as ultrasound and CT scan, and biopsy. Treatment options for ovarian neoplasms depend on the type, stage, and location of the tumor, and may include surgery, chemotherapy, and radiation therapy.

There are several types of ataxia, each with different symptoms and causes. Some common forms of ataxia include:

1. Spinocerebellar ataxia (SCA): This is the most common form of ataxia and is caused by a degeneration of the cerebellum and spinal cord. It can cause progressive weakness, loss of coordination, and difficulty with speaking and swallowing.
2. Friedreich's ataxia: This is the second most common form of ataxia and is caused by a deficiency of vitamin E in the body. It can cause weakness in the legs, difficulty walking, and problems with speech and language.
3. Ataxia-telangiectasia (AT): This is a rare form of ataxia that is caused by a gene mutation. It can cause progressive weakness, loss of coordination, and an increased risk of developing cancer.
4. Acute cerebellar ataxia: This is a sudden and temporary form of ataxia that can be caused by a variety of factors such as infections, injuries, or certain medications.
5. Drug-induced ataxia: Certain medications can cause ataxia as a side effect.
6. Vitamin deficiency ataxia: Deficiencies in vitamins such as vitamin B12 or folate can cause ataxia.
7. Metabolic disorders: Certain metabolic disorders such as hypothyroidism, hyperthyroidism, and hypoglycemia can cause ataxia.
8. Stroke or brain injury: Ataxia can be a result of a stroke or brain injury.
9. Multiple system atrophy (MSA): This is a rare progressive neurodegenerative disorder that can cause ataxia, parkinsonism, and autonomic dysfunction.
10. Spinocerebellar ataxia (SCA): This is a group of rare genetic disorders that can cause progressive cerebellar ataxia, muscle wasting, and other signs and symptoms.

It's important to note that this is not an exhaustive list and there may be other causes of ataxia not mentioned here. If you suspect you or someone you know may have ataxia, it is important to consult a healthcare professional for proper diagnosis and treatment.

The disorder is named after Dr. Schilder, a Dutch neurologist who first described it in 1928. It is also known as diffuse cerebral sclerosis, progressive cerebral degeneration, or Schilder's disease. The exact prevalence and incidence of the disorder are not known, but it is believed to affect approximately 1 in 1 million individuals worldwide.

The symptoms of Diffuse Cerebral Sclerosis of Schilder typically begin in early adulthood and progress slowly over several years. Affected individuals may experience cognitive decline, including memory loss, difficulty with concentration and problem-solving, and decreased language skills. They may also experience ataxia, which is a loss of coordination and balance, leading to difficulties with walking and maintaining their posture. Seizures are common in individuals with Diffuse Cerebral Sclerosis of Schilder, and can range from mild to severe. Weakness and paralysis may also develop as the disorder progresses.

The exact cause of Diffuse Cerebral Sclerosis of Schilder is not known, but it is believed to be related to an autoimmune response, in which the immune system mistakenly attacks healthy cells in the central nervous system. There is no cure for the disorder, and treatment is focused on managing symptoms and slowing its progression. Medications such as anticonvulsants and steroids may be used to control seizures and inflammation, while physical therapy and occupational therapy can help individuals maintain their physical function and independence.

In summary, Diffuse Cerebral Sclerosis of Schilder is a rare and progressive neurodegenerative disorder that affects the brain and spinal cord, leading to a range of cognitive, motor, and behavioral symptoms. While there is no cure for the disorder, treatment can help manage symptoms and slow its progression, allowing individuals with Diffuse Cerebral Sclerosis of Schilder to maintain their quality of life as much as possible.

Examples of inborn errors of metabolism include:

1. Phenylketonuria (PKU): A disorder that affects the body's ability to break down the amino acid phenylalanine, leading to a buildup of this substance in the blood and brain.
2. Hypothyroidism: A condition in which the thyroid gland does not produce enough thyroid hormones, leading to developmental delays, intellectual disability, and other health problems.
3. Maple syrup urine disease (MSUD): A disorder that affects the body's ability to break down certain amino acids, leading to a buildup of these substances in the blood and urine.
4. Glycogen storage diseases: A group of disorders that affect the body's ability to store and use glycogen, a form of carbohydrate energy.
5. Mucopolysaccharidoses (MPS): A group of disorders that affect the body's ability to produce and break down certain sugars, leading to a buildup of these substances in the body.
6. Citrullinemia: A disorder that affects the body's ability to break down the amino acid citrulline, leading to a buildup of this substance in the blood and urine.
7. Homocystinuria: A disorder that affects the body's ability to break down certain amino acids, leading to a buildup of these substances in the blood and urine.
8. Tyrosinemia: A disorder that affects the body's ability to break down the amino acid tyrosine, leading to a buildup of this substance in the blood and liver.

Inborn errors of metabolism can be diagnosed through a combination of physical examination, medical history, and laboratory tests such as blood and urine tests. Treatment for these disorders varies depending on the specific condition and may include dietary changes, medication, and other therapies. Early detection and treatment can help manage symptoms and prevent complications.

Neoplasm refers to an abnormal growth of cells that can be benign (non-cancerous) or malignant (cancerous). Neoplasms can occur in any part of the body and can affect various organs and tissues. The term "neoplasm" is often used interchangeably with "tumor," but while all tumors are neoplasms, not all neoplasms are tumors.

Types of Neoplasms

There are many different types of neoplasms, including:

1. Carcinomas: These are malignant tumors that arise in the epithelial cells lining organs and glands. Examples include breast cancer, lung cancer, and colon cancer.
2. Sarcomas: These are malignant tumors that arise in connective tissue, such as bone, cartilage, and fat. Examples include osteosarcoma (bone cancer) and soft tissue sarcoma.
3. Lymphomas: These are cancers of the immune system, specifically affecting the lymph nodes and other lymphoid tissues. Examples include Hodgkin lymphoma and non-Hodgkin lymphoma.
4. Leukemias: These are cancers of the blood and bone marrow that affect the white blood cells. Examples include acute myeloid leukemia (AML) and chronic lymphocytic leukemia (CLL).
5. Melanomas: These are malignant tumors that arise in the pigment-producing cells called melanocytes. Examples include skin melanoma and eye melanoma.

Causes and Risk Factors of Neoplasms

The exact causes of neoplasms are not fully understood, but there are several known risk factors that can increase the likelihood of developing a neoplasm. These include:

1. Genetic predisposition: Some people may be born with genetic mutations that increase their risk of developing certain types of neoplasms.
2. Environmental factors: Exposure to certain environmental toxins, such as radiation and certain chemicals, can increase the risk of developing a neoplasm.
3. Infection: Some neoplasms are caused by viruses or bacteria. For example, human papillomavirus (HPV) is a common cause of cervical cancer.
4. Lifestyle factors: Factors such as smoking, excessive alcohol consumption, and a poor diet can increase the risk of developing certain types of neoplasms.
5. Family history: A person's risk of developing a neoplasm may be higher if they have a family history of the condition.

Signs and Symptoms of Neoplasms

The signs and symptoms of neoplasms can vary depending on the type of cancer and where it is located in the body. Some common signs and symptoms include:

1. Unusual lumps or swelling
2. Pain
3. Fatigue
4. Weight loss
5. Change in bowel or bladder habits
6. Unexplained bleeding
7. Coughing up blood
8. Hoarseness or a persistent cough
9. Changes in appetite or digestion
10. Skin changes, such as a new mole or a change in the size or color of an existing mole.

Diagnosis and Treatment of Neoplasms

The diagnosis of a neoplasm usually involves a combination of physical examination, imaging tests (such as X-rays, CT scans, or MRI scans), and biopsy. A biopsy involves removing a small sample of tissue from the suspected tumor and examining it under a microscope for cancer cells.

The treatment of neoplasms depends on the type, size, location, and stage of the cancer, as well as the patient's overall health. Some common treatments include:

1. Surgery: Removing the tumor and surrounding tissue can be an effective way to treat many types of cancer.
2. Chemotherapy: Using drugs to kill cancer cells can be effective for some types of cancer, especially if the cancer has spread to other parts of the body.
3. Radiation therapy: Using high-energy radiation to kill cancer cells can be effective for some types of cancer, especially if the cancer is located in a specific area of the body.
4. Immunotherapy: Boosting the body's immune system to fight cancer can be an effective treatment for some types of cancer.
5. Targeted therapy: Using drugs or other substances to target specific molecules on cancer cells can be an effective treatment for some types of cancer.

Prevention of Neoplasms

While it is not always possible to prevent neoplasms, there are several steps that can reduce the risk of developing cancer. These include:

1. Avoiding exposure to known carcinogens (such as tobacco smoke and radiation)
2. Maintaining a healthy diet and lifestyle
3. Getting regular exercise
4. Not smoking or using tobacco products
5. Limiting alcohol consumption
6. Getting vaccinated against certain viruses that are associated with cancer (such as human papillomavirus, or HPV)
7. Participating in screening programs for early detection of cancer (such as mammograms for breast cancer and colonoscopies for colon cancer)
8. Avoiding excessive exposure to sunlight and using protective measures such as sunscreen and hats to prevent skin cancer.

It's important to note that not all cancers can be prevented, and some may be caused by factors that are not yet understood or cannot be controlled. However, by taking these steps, individuals can reduce their risk of developing cancer and improve their overall health and well-being.

Note: The medical information provided here is for general purposes only and should not be considered a substitute for professional medical advice, diagnosis, or treatment. If you suspect that your child may have a congenital limb deformity, it is important to consult with a qualified healthcare provider as soon as possible.

The APC gene is a tumor suppressor gene that helps regulate cell growth and prevent the formation of tumors. Mutations in the APC gene can cause the development of adenomas, which are precancerous growths that can eventually become colon cancer if left untreated.

APC mutations can be inherited from one's parents or can occur spontaneously. The risk of developing colorectal cancer is increased in people with an APC mutation, and regular screening and monitoring is recommended to detect and remove any precancerous growths before they become cancerous.

Symptoms of APC may include abdominal pain, diarrhea, rectal bleeding, and weight loss. Treatment for APC typically involves removal of the affected portion of the colon and rectum, followed by ongoing monitoring and screening to detect any recurrences.

In summary, adenomatous polyposis coli (APC) is a genetic condition that increases the risk of developing colorectal cancer and other cancers. It is caused by mutations in the APC gene and can be inherited or acquired spontaneously. Symptoms may include abdominal pain, diarrhea, rectal bleeding, and weight loss, and treatment typically involves removal of the affected portion of the colon and rectum, followed by ongoing monitoring and screening.

HNPCC is caused by mutations in genes involved in DNA repair, specifically in the MLH1, MSH2, MSH6, PMS2, and EPCAM genes. These genes help to repair mistakes that occur during DNA replication and repair. When these genes are mutated, the cells in the colon do not function properly and can develop into cancer.

The symptoms of HNPCC can vary depending on the location and size of the polyps, but may include:

* Blood in the stool
* Changes in bowel movements, such as diarrhea or constipation
* Abdominal pain or discomfort
* Weakness and fatigue

HNPCC is diagnosed through a combination of clinical criteria, family history, and genetic testing. Genetic testing can identify specific mutations in the genes associated with HNPCC.

Treatment for HNPCC typically involves surveillance and monitoring to detect and remove polyps before they become cancerous. This may include regular colonoscopies, endoscopies, and imaging tests such as CT scans or MRI. In some cases, surgery may be necessary to remove the affected portion of the colon or rectum.

The prognosis for HNPCC is generally poor, with a high risk of developing colorectal cancer and other cancers. However, early detection and removal of polyps can improve outcomes. It is important for individuals with HNPCC to follow their treatment plans closely and to be monitored regularly by a healthcare provider.

In summary, hereditary nonpolyposis colorectal neoplasia (HNPCC) is a rare inherited condition that increases the risk of developing colorectal cancer and other types of cancer. It is caused by mutations in genes involved in DNA repair and surveillance, and can be diagnosed through clinical criteria, family history, and genetic testing. Treatment typically involves surveillance and monitoring, with surgery may be necessary in some cases. The prognosis for HNPCC is generally poor, but early detection and removal of polyps can improve outcomes.

There are different types of cataracts, including:

1. Nuclear cataract: This is the most common type of cataract and affects the center of the lens.
2. Cortical cataract: This type of cataract affects the outer layer of the lens and can cause a "halo" effect around lights.
3. Posterior subcapsular cataract: This type of cataract affects the back of the lens and is more common in younger people and those with diabetes.
4. Congenital cataract: This type of cataract is present at birth and can be caused by genetic factors or other conditions.

Symptoms of cataracts can include:

* Blurred vision
* Double vision
* Sensitivity to light
* Glare
* Difficulty seeing at night
* Fading or yellowing of colors

Cataracts can be diagnosed with a comprehensive eye exam, which includes a visual acuity test, dilated eye exam, and imaging tests such as ultrasound or optical coherence tomography (OCT).

Treatment for cataracts typically involves surgery to remove the clouded lens and replace it with an artificial one called an intraocular lens (IOL). The type of IOL used will depend on the patient's age, visual needs, and other factors. In some cases, cataracts may be removed using a laser-assisted procedure.

In addition to surgery, there are also non-surgical treatments for cataracts, such as glasses or contact lenses, which can help improve vision. However, these treatments do not cure the underlying condition and are only temporary solutions.

It's important to note that cataracts are a common age-related condition and can affect anyone over the age of 40. Therefore, it's important to have regular eye exams to monitor for any changes in vision and to detect cataracts early on.

In summary, cataracts are a clouding of the lens in the eye that can cause blurred vision, double vision, sensitivity to light, and other symptoms. Treatment typically involves surgery to remove the clouded lens and replace it with an artificial one, but non-surgical treatments such as glasses or contact lenses may also be used. Regular eye exams are important for detecting cataracts early on and monitoring vision health.

Examples of Urogenital Abnormalities:

1. Congenital Anomalies: Conditions that are present at birth and affect the urinary tract or genitalia, such as hypospadias (a condition where the urethra opens on the underside of the penis instead of the tip), undescended testes (testes that fail to descend into the scrotum), or interrupted or absent vas deferens (tubes that carry sperm from the epididymis to the penis).
2. Infections: Bacterial or viral infections that can cause urogenital abnormalities, such as pyelonephritis (a kidney infection) or prostatitis (an inflammation of the prostate gland).
3. Trauma: Injuries to the urinary tract or genitalia, such as those caused by sexual assault or accidents, can lead to urogenital abnormalities.
4. Neurological Conditions: Certain neurological conditions, such as spina bifida (a birth defect that affects the spine and spinal cord), can cause urogenital abnormalities.
5. Cancer: Cancer of the urinary tract or genitalia, such as bladder cancer or prostate cancer, can cause urogenital abnormalities.

Symptoms of Urogenital Abnormalities:

Depending on the specific condition, symptoms of urogenital abnormalities may include:

1. Difficulty urinating or painful urination
2. Blood in the urine or semen
3. Frequent urination or incontinence
4. Pain during sexual activity
5. Abnormalities in the shape or size of the genitalia
6. Testicular atrophy or swelling
7. Discharge from the vagina or penis
8. Foul-smelling urine

Diagnosis and Treatment of Urogenital Abnormalities:

Diagnosis of urogenital abnormalities typically involves a combination of physical examination, medical history, and diagnostic tests such as urinalysis, blood tests, and imaging studies (such as X-rays or ultrasound). Treatment depends on the specific condition causing the abnormality. Some common treatments include:

1. Medications to treat infections or inflammation
2. Surgery to repair or remove damaged tissue
3. Lifestyle changes, such as diet and exercise modifications
4. Pelvic floor exercises to strengthen the muscles that control urination and bowel movements
5. Assistive devices, such as catheters or prosthetic limbs
6. Hormone therapy to treat hormonal imbalances or gender identity issues.

There are several types of muscular dystrophies, including:

1. Duchenne muscular dystrophy (DMD): This is the most common form of muscular dystrophy, affecting males primarily. It is caused by a mutation in the dystrophin gene and is characterized by progressive muscle weakness, wheelchair dependence, and shortened lifespan.
2. Becker muscular dystrophy (BMD): This is a less severe form of muscular dystrophy than DMD, affecting both males and females. It is caused by a mutation in the dystrophin gene and is characterized by progressive muscle weakness, but with a milder course than DMD.
3. Limb-girdle muscular dystrophy (LGMD): This is a group of disorders that affect the muscles around the shoulders and hips, leading to progressive weakness and degeneration. There are several subtypes of LGMD, each with different symptoms and courses.
4. Facioscapulohumeral muscular dystrophy (FSHD): This is a rare form of muscular dystrophy that affects the muscles of the face, shoulder, and upper arm. It is caused by a mutation in the D4Z4 repeat on chromosome 4.
5. Myotonic dystrophy: This is the most common adult-onset form of muscular dystrophy, affecting both males and females. It is characterized by progressive muscle stiffness, weakness, and wasting, as well as other symptoms such as cataracts, myotonia, and cognitive impairment.

There is currently no cure for muscular dystrophies, but various treatments are available to manage the symptoms and slow the progression of the disease. These include physical therapy, orthotics and assistive devices, medications to manage pain and other symptoms, and in some cases, surgery. Researchers are actively working to develop new treatments and a cure for muscular dystrophies, including gene therapy, stem cell therapy, and small molecule therapies.

It's important to note that muscular dystrophy can be inherited in an autosomal dominant, autosomal recessive, or X-linked manner, depending on the specific type of dystrophy. This means that the risk of inheriting the condition depends on the mode of inheritance and the presence of mutations in specific genes.

In summary, muscular dystrophy is a group of genetic disorders characterized by progressive muscle weakness and degeneration. There are several types of muscular dystrophy, each with different symptoms and courses. While there is currently no cure for muscular dystrophy, various treatments are available to manage the symptoms and slow the progression of the disease. Researchers are actively working to develop new treatments and a cure for muscular dystrophy.

The symptoms of microphthalmos may include:

* Small eyes with reduced visual acuity
* Difficulty with depth perception and peripheral vision
* Squinting or crossing of the eyes (strabismus)
* Poor eye movement
* Increased sensitivity to light (photophobia)
* Reduced pupillary reflexes

The causes of microphthalmos can include:

* Genetic mutations or chromosomal abnormalities
* Infections such as rubella, syphilis, or toxoplasmosis during pregnancy
* Maternal exposure to certain medications or chemicals during pregnancy
* Trauma or injury to the eye during fetal development
* Tumors or cysts in the eye or surrounding tissues

Diagnosis of microphthalmos typically involves a comprehensive eye exam, including measurements of the eye's size and visual acuity. Imaging tests such as ultrasound or MRI may also be used to evaluate the structure of the eye and surrounding tissues.

Treatment for microphthalmos depends on the underlying cause and severity of the condition. In some cases, corrective glasses or contact lenses may be sufficient to improve vision. Surgery may be necessary in more severe cases to realign the eyes or remove tumors or cysts. In cases where the microphthalmos is due to a genetic mutation, there may be no effective treatment other than managing the symptoms.

1. Bone fractures: The most common symptom of OI is an increased risk of fractures, which can occur with minimal trauma or even without any apparent cause.
2. Dental problems: People with OI may have poorly formed teeth, tooth decay, and gum disease.
3. Short stature: Many individuals with OI are short in stature, due to the effects of chronic fractures and pain on growth and development.
4. Muscle weakness: Some people with OI may experience muscle weakness, particularly in the limbs.
5. Joint problems: OI can cause issues with joint mobility and stability, leading to arthritis and other degenerative conditions.
6. Scoliosis: Curvature of the spine is common in people with OI, which can lead to back pain and respiratory problems.
7. Blue sclerae: A distinctive feature of OI is the presence of blue-colored sclerae (the white part of the eye).
8. Other symptoms: Some people with OI may experience hearing loss, vision problems, and delayed development.

There are several types of OI, each caused by a mutation in a specific gene. The most common forms of OI are type I, type II, and type III. Type I is the mildest form and type III is the most severe. There is no cure for OI, but treatment focuses on managing symptoms and preventing complications. This may include:

1. Bracing and orthotics: To support weakened bones and improve posture.
2. Physical therapy: To maintain muscle strength and flexibility.
3. Pain management: To reduce the risk of chronic pain and improve quality of life.
4. Dental care: Regular dental check-ups and appropriate treatment to prevent tooth decay and gum disease.
5. Respiratory care: To manage breathing problems and prevent respiratory infections.
6. Monitoring for hearing loss: Regular hearing tests to detect any hearing loss and provide appropriate intervention.
7. Early intervention: To help children with OI develop skills and abilities to their full potential.
8. Genetic counseling: For families with a history of OI, to understand the risks and implications for future pregnancies.

It's important for people with OI to work closely with their healthcare provider to manage their condition and prevent complications. With proper care and support, many people with OI can lead active and fulfilling lives.

There are several types of skin neoplasms, including:

1. Basal cell carcinoma (BCC): This is the most common type of skin cancer, and it usually appears as a small, fleshy bump or a flat, scaly patch. BCC is highly treatable, but if left untreated, it can grow and invade surrounding tissue.
2. Squamous cell carcinoma (SCC): This type of skin cancer is less common than BCC but more aggressive. It typically appears as a firm, flat, or raised bump on sun-exposed areas. SCC can spread to other parts of the body if left untreated.
3. Melanoma: This is the most serious type of skin cancer, accounting for only 1% of all skin neoplasms but responsible for the majority of skin cancer deaths. Melanoma can appear as a new or changing mole, and it's essential to recognize the ABCDE signs (Asymmetry, Border irregularity, Color variation, Diameter >6mm, Evolving size, shape, or color) to detect it early.
4. Sebaceous gland carcinoma: This rare type of skin cancer originates in the oil-producing glands of the skin and can appear as a firm, painless nodule on the forehead, nose, or other oily areas.
5. Merkel cell carcinoma: This is a rare and aggressive skin cancer that typically appears as a firm, shiny bump on the skin. It's more common in older adults and those with a history of sun exposure.
6. Cutaneous lymphoma: This type of cancer affects the immune system and can appear as a rash, nodules, or tumors on the skin.
7. Kaposi sarcoma: This is a rare type of skin cancer that affects people with weakened immune systems, such as those with HIV/AIDS. It typically appears as a flat, red or purple lesion on the skin.

While skin cancers are generally curable when detected early, it's important to be aware of your skin and notice any changes or unusual spots, especially if you have a history of sun exposure or other risk factors. If you suspect anything suspicious, see a dermatologist for an evaluation and potential biopsy. Remember, prevention is key to avoiding the harmful effects of UV radiation and reducing your risk of developing skin cancer.

There are many different types of retinal degeneration, each with its own set of symptoms and causes. Some common forms of retinal degeneration include:

1. Age-related macular degeneration (AMD): This is the most common form of retinal degeneration and affects the macula, the part of the retina responsible for central vision. AMD can cause blind spots or distorted vision.
2. Retinitis pigmentosa (RP): This is a group of inherited conditions that affect the retina and can lead to night blindness, loss of peripheral vision, and eventually complete vision loss.
3. Leber congenital amaurosis (LCA): This is a rare inherited condition that causes severe vision loss or blindness at birth or within the first few years of life.
4. Stargardt disease: This is a rare inherited condition that causes progressive vision loss and can lead to blindness.
5. Retinal detachment: This occurs when the retina becomes separated from the underlying tissue, causing vision loss.
6. Diabetic retinopathy (DR): This is a complication of diabetes that can cause damage to the blood vessels in the retina and lead to vision loss.
7. Retinal vein occlusion (RVO): This occurs when a blockage forms in the small veins that carry blood away from the retina, causing vision loss.

There are several risk factors for retinal degeneration, including:

1. Age: Many forms of retinal degeneration are age-related and become more common as people get older.
2. Family history: Inherited conditions such as RP and LCA can increase the risk of retinal degeneration.
3. Genetics: Some forms of retinal degeneration are caused by genetic mutations.
4. Diabetes: Diabetes is a major risk factor for diabetic retinopathy, which can cause vision loss.
5. Hypertension: High blood pressure can increase the risk of retinal vein occlusion and other forms of retinal degeneration.
6. Smoking: Smoking has been linked to an increased risk of several forms of retinal degeneration.
7. UV exposure: Prolonged exposure to UV radiation from sunlight can increase the risk of retinal degeneration.

There are several treatment options for retinal degeneration, including:

1. Vitamin and mineral supplements: Vitamins A, C, and E, as well as zinc and selenium, have been shown to slow the progression of certain forms of retinal degeneration.
2. Anti-vascular endothelial growth factor (VEGF) injections: These medications can help reduce swelling and slow the progression of diabetic retinopathy and other forms of retinal degeneration.
3. Photodynamic therapy: This involves the use of a light-sensitive medication and low-intensity laser light to damage and shrink abnormal blood vessels in the retina.
4. Retinal implants: These devices can be used to restore some vision in people with advanced forms of retinal degeneration.
5. Stem cell therapy: Research is ongoing into the use of stem cells to repair damaged retinal cells and restore vision.

It's important to note that early detection and treatment of retinal degeneration can help to slow or stop the progression of the disease, preserving vision for as long as possible. Regular eye exams are crucial for detecting retinal degeneration in its early stages, when treatment is most effective.

There are several subtypes of HSMN, each with distinct clinical features and inheritance patterns. Some of the most common forms of HSMN include:

1. Charcot-Marie-Tooth disease (CMT): This is the most common form of HSMN, accounting for about 70% of all cases. CMT is caused by mutations in genes that code for proteins involved in the structure and function of peripheral nerves.
2. Hereditary motor and sensory neuropathy (HMSN): This is a group of disorders that affect both the sensory and motor nerves, leading to a range of symptoms including weakness, wasting of muscles, and loss of sensation.
3. Spastic paraparesis (SP): This is a rare form of HSMN that is characterized by weakness and stiffness in the legs, as well as spasticity (increased muscle tone).
4. Hereditary neuropathy with liability to pressure palsies (HNPP): This is a rare form of HSMN that is caused by mutations in the PMP22 gene, which codes for a protein involved in the structure and function of peripheral nerves.

The symptoms of HSMN can vary widely depending on the specific subtype and the severity of the condition. Common symptoms include:

* Weakness and muscle wasting
* Numbness and tingling sensations
* Loss of sensation in the hands and feet
* Muscle cramps and spasms
* Difficulty walking or maintaining balance

There is no cure for HSMN, but treatment options are available to manage symptoms and slow the progression of the disease. These may include:

* Physical therapy to improve muscle strength and mobility
* Occupational therapy to improve daily functioning and independence
* Pain management medications
* Orthotics and assistive devices to aid mobility and balance
* Injections or infusions of immunoglobulins to reduce inflammation and demyelination

It is important for individuals with HSMN to receive regular monitoring and care from a healthcare team, including a neurologist, physical therapist, and other specialists as needed. With appropriate management, many individuals with HSMN are able to lead active and fulfilling lives.

The symptoms of Leigh disease usually become apparent during infancy or early childhood and may include:

* Delayed development
* Loss of motor skills
* Muscle weakness
* Seizures
* Vision loss
* Hearing loss
* Poor feeding and growth

Leigh disease is often diagnosed through a combination of clinical evaluations, laboratory tests, and imaging studies such as MRI or CT scans. There is no cure for Leigh disease, but treatment may include supportive care, such as physical therapy, occupational therapy, and speech therapy, as well as medications to manage seizures and other symptoms. In some cases, a liver transplant may be necessary.

The progression of Leigh disease can vary widely, and the age of onset and rate of progression can vary depending on the specific type of mutation causing the disorder. Some forms of Leigh disease are more severe and progress rapidly, while others may be milder and progress more slowly. In general, however, the disease tends to progress over time, with worsening symptoms and declining function.

Leigh disease is a rare disorder, and there is no specific data on its prevalence. However, it is estimated that mitochondrial disorders, of which Leigh disease is one type, affect approximately 1 in 4,000 people in the United States.

There are several types of MPDs, including:

1. Polycythemia vera (PV): This is a rare disorder characterized by an overproduction of red blood cells, white blood cells, and platelets.
2. Essential thrombocythemia (ET): This is a rare disorder characterized by an overproduction of platelets.
3. Primary myelofibrosis (PMF): This is a rare and severe disorder characterized by the accumulation of scar tissue in the bone marrow, leading to an overproduction of immature white blood cells.
4. Chronic myelogenous leukemia (CML): This is a type of cancer that affects the bone marrow and blood cells, characterized by the overproduction of immature white blood cells.

The symptoms of MPDs can vary depending on the specific disorder, but may include:

* Fatigue
* Weakness
* Shortness of breath
* Headaches
* Dizziness
* Pale skin
* Easy bruising or bleeding
* Swollen spleen
* Bone pain

The exact cause of MPDs is not known, but they are thought to be due to genetic mutations that occur in the bone marrow cells. Treatment options for MPDs include:

* Chemotherapy: This is a type of drug that kills cancer cells.
* Radiation therapy: This is a type of treatment that uses high-energy X-rays to kill cancer cells.
* Stem cell transplantation: This is a procedure in which healthy stem cells are transplanted into the body to replace damaged or diseased bone marrow cells.

Overall, MPDs are rare and complex disorders that can have a significant impact on quality of life. While there is no cure for these conditions, treatment options are available to help manage symptoms and improve outcomes.

AML is a fast-growing and aggressive form of leukemia that can spread to other parts of the body through the bloodstream. It is most commonly seen in adults over the age of 60, but it can also occur in children.

There are several subtypes of AML, including:

1. Acute promyelocytic leukemia (APL): This is a subtype of AML that is characterized by the presence of a specific genetic abnormality called the PML-RARA fusion gene. It is usually responsive to treatment with chemotherapy and has a good prognosis.
2. Acute myeloid leukemia, not otherwise specified (NOS): This is the most common subtype of AML and does not have any specific genetic abnormalities. It can be more difficult to treat and has a poorer prognosis than other subtypes.
3. Chronic myelomonocytic leukemia (CMML): This is a subtype of AML that is characterized by the presence of too many immature white blood cells called monocytes in the blood and bone marrow. It can progress slowly over time and may require ongoing treatment.
4. Juvenile myeloid leukemia (JMML): This is a rare subtype of AML that occurs in children under the age of 18. It is characterized by the presence of too many immature white blood cells called blasts in the blood and bone marrow.

The symptoms of AML can vary depending on the subtype and the severity of the disease, but they may include:

* Fatigue
* Weakness
* Shortness of breath
* Pale skin
* Easy bruising or bleeding
* Swollen lymph nodes, liver, or spleen
* Bone pain
* Headache
* Confusion or seizures

AML is diagnosed through a combination of physical examination, medical history, and diagnostic tests such as:

1. Complete blood count (CBC): This test measures the number and types of cells in the blood, including red blood cells, white blood cells, and platelets.
2. Bone marrow biopsy: This test involves removing a small sample of bone marrow tissue from the hipbone or breastbone to examine under a microscope for signs of leukemia cells.
3. Genetic testing: This test can help identify specific genetic abnormalities that are associated with AML.
4. Immunophenotyping: This test uses antibodies to identify the surface proteins on leukemia cells, which can help diagnose the subtype of AML.
5. Cytogenetics: This test involves staining the bone marrow cells with dyes to look for specific changes in the chromosomes that are associated with AML.

Treatment for AML typically involves a combination of chemotherapy, targeted therapy, and in some cases, bone marrow transplantation. The specific treatment plan will depend on the subtype of AML, the patient's age and overall health, and other factors. Some common treatments for AML include:

1. Chemotherapy: This involves using drugs to kill cancer cells. The most commonly used chemotherapy drugs for AML are cytarabine (Ara-C) and anthracyclines such as daunorubicin (DaunoXome) and idarubicin (Idamycin).
2. Targeted therapy: This involves using drugs that specifically target the genetic abnormalities that are causing the cancer. Examples of targeted therapies used for AML include midostaurin (Rydapt) and gilteritinib (Xospata).
3. Bone marrow transplantation: This involves replacing the diseased bone marrow with healthy bone marrow from a donor. This is typically done after high-dose chemotherapy to destroy the cancer cells.
4. Supportive care: This includes treatments to manage symptoms and side effects of the disease and its treatment, such as anemia, infection, and bleeding. Examples of supportive care for AML include blood transfusions, antibiotics, and platelet transfusions.
5. Clinical trials: These are research studies that involve testing new treatments for AML. Participating in a clinical trial may give patients access to innovative therapies that are not yet widely available.

It's important to note that the treatment plan for AML is highly individualized, and the specific treatments used will depend on the patient's age, overall health, and other factors. Patients should work closely with their healthcare team to determine the best course of treatment for their specific needs.

There are several types of melanoma, including:

1. Superficial spreading melanoma: This is the most common type of melanoma, accounting for about 70% of cases. It usually appears as a flat or slightly raised discolored patch on the skin.
2. Nodular melanoma: This type of melanoma is more aggressive and accounts for about 15% of cases. It typically appears as a raised bump on the skin, often with a darker color.
3. Acral lentiginous melanoma: This type of melanoma affects the palms of the hands, soles of the feet, or nail beds and accounts for about 5% of cases.
4. Lentigo maligna melanoma: This type of melanoma usually affects the face and is more common in older adults.

The risk factors for developing melanoma include:

1. Ultraviolet (UV) radiation exposure from the sun or tanning beds
2. Fair skin, light hair, and light eyes
3. A history of sunburns
4. Weakened immune system
5. Family history of melanoma

The symptoms of melanoma can vary depending on the type and location of the cancer. Common symptoms include:

1. Changes in the size, shape, or color of a mole
2. A new mole or growth on the skin
3. A spot or sore that bleeds or crusts over
4. Itching or pain on the skin
5. Redness or swelling around a mole

If melanoma is suspected, a biopsy will be performed to confirm the diagnosis. Treatment options for melanoma depend on the stage and location of the cancer and may include surgery, chemotherapy, radiation therapy, or a combination of these. Early detection and treatment are key to successful outcomes in melanoma cases.

In conclusion, melanoma is a type of skin cancer that can be deadly if not detected early. It is important to practice sun safety, perform regular self-exams, and seek medical attention if any suspicious changes are noticed on the skin. By being aware of the risk factors, symptoms, and treatment options for melanoma, individuals can take steps to protect themselves from this potentially deadly disease.

The term "Disorders of Sex Development" was introduced in the early 2000s as a more inclusive and neutral way to describe these conditions, replacing outdated and stigmatizing terms such as "intersex." DSD includes a wide range of conditions, some of which may be genetic in origin, while others may result from hormonal or environmental factors.

The diagnosis and management of DSD can be complex and require a multidisciplinary team of healthcare providers, including endocrinologists, geneticists, urologists, and psychologists. Treatment options may include hormone therapy, surgery, and counseling, and the goals of treatment are to alleviate symptoms, improve quality of life, and support the individual's self-identification and gender expression.

It is important to note that DSD is a medical term and does not have any implications for an individual's gender identity or expression. All individuals with DSD have the right to live as their authentic selves, regardless of their gender identity or expression.

Causes:

* Genetic mutations or deletions
* Infections such as meningitis or encephalitis
* Stroke or bleeding in the brain
* Traumatic head injury
* Multiple sclerosis or other demyelinating diseases
* Brain tumors
* Cerebellar degeneration due to aging

Symptoms:

* Coordination difficulties, such as stumbling or poor balance
* Tremors or shaky movements
* Slurred speech and difficulty with fine motor skills
* Nystagmus (involuntary eye movements)
* Difficulty with gait and walking
* Fatigue, weakness, and muscle wasting

Diagnosis:

* Physical examination and medical history
* Neurological examination to test coordination, balance, and reflexes
* Imaging studies such as MRI or CT scans to rule out other conditions
* Genetic testing to identify inherited forms of cerebellar ataxia
* Electromyography (EMG) to test muscle activity and nerve function

Treatment:

* Physical therapy to improve balance, coordination, and gait
* Occupational therapy to help with daily activities and fine motor skills
* Speech therapy to address slurred speech and communication difficulties
* Medications to manage symptoms such as tremors or spasticity
* Assistive devices such as canes or walkers to improve mobility

Prognosis:

* The prognosis for cerebellar ataxia varies depending on the underlying cause. In some cases, the condition may be slowly progressive and lead to significant disability over time. In other cases, the condition may remain stable or even improve with treatment.

Living with cerebellar ataxia can be challenging, but there are many resources available to help individuals with the condition manage their symptoms and maintain their quality of life. These resources may include:

* Physical therapy to improve balance and coordination
* Occupational therapy to assist with daily activities
* Speech therapy to address communication difficulties
* Assistive devices such as canes or walkers to improve mobility
* Medications to manage symptoms such as tremors or spasticity
* Support groups for individuals with cerebellar ataxia and their families

Overall, the key to managing cerebellar ataxia is early diagnosis and aggressive treatment. With proper management, individuals with this condition can lead active and fulfilling lives despite the challenges they face.

There are three main types of hearing loss: conductive, sensorineural, and mixed. Conductive hearing loss occurs when there is a problem with the middle ear and its ability to transmit sound waves to the inner ear. Sensorineural hearing loss occurs when there is damage to the inner ear or the auditory nerve, which can lead to permanent hearing loss. Mixed hearing loss is a combination of conductive and sensorineural hearing loss.

Symptoms of hearing loss may include difficulty hearing speech, especially in noisy environments, muffled or distorted sound, ringing or buzzing in the ears (tinnitus), and difficulty hearing high-pitched sounds. If you suspect you have hearing loss, it is important to seek medical advice as soon as possible, as early treatment can help improve communication and quality of life.

Hearing loss is diagnosed through a series of tests, including an audiometric test, which measures the softest sounds that can be heard at different frequencies. Treatment options for hearing loss include hearing aids, cochlear implants, and other assistive devices, as well as counseling and support to help manage the condition and improve communication skills.

Overall, hearing loss is a common condition that can have a significant impact on daily life. If you suspect you or someone you know may be experiencing hearing loss, it is important to seek medical advice as soon as possible to address any underlying issues and improve communication and quality of life.

There are three main types of Gaucher disease:

1. Type 1: This is the most common form of the disease and affects both children and adults. Symptoms include fatigue, anemia, bone pain, and a decrease in platelet count.
2. Type 2: This type is less common and primarily affects children. Symptoms are similar to those of Type 1, but may also include developmental delays and seizures.
3. Type 3: This is the rarest form of the disease and primarily affects adults. Symptoms include a slowed heart rate, fatigue, and weakness.

Gaucher disease is diagnosed through a combination of clinical evaluation, laboratory tests, and genetic analysis. Treatment options for Gaucher disease include enzyme replacement therapy (ERT) and substrate reduction therapy (SRT), which are designed to replace or reduce the amount of glucocerebrosidase needed by the body. These therapies can help manage symptoms and improve quality of life, but they do not cure the disease.

In addition to these treatment options, there is ongoing research into new and experimental therapies for Gaucher disease, including gene therapy and small molecule treatments. These innovative approaches aim to provide more effective and targeted treatments for this rare and debilitating condition.

There are several types of genomic instability, including:

1. Chromosomal instability (CIN): This refers to changes in the number or structure of chromosomes, such as aneuploidy (having an abnormal number of chromosomes) or translocations (the movement of genetic material between chromosomes).
2. Point mutations: These are changes in a single base pair in the DNA sequence.
3. Insertions and deletions: These are changes in the number of base pairs in the DNA sequence, resulting in the insertion or deletion of one or more base pairs.
4. Genomic rearrangements: These are changes in the structure of the genome, such as chromosomal breaks and reunions, or the movement of genetic material between chromosomes.

Genomic instability can arise from a variety of sources, including environmental factors, errors during DNA replication and repair, and genetic mutations. It is often associated with cancer, as cancer cells have high levels of genomic instability, which can lead to the development of resistance to chemotherapy and radiation therapy.

Research into genomic instability has led to a greater understanding of the mechanisms underlying cancer and other diseases, and has also spurred the development of new therapeutic strategies, such as targeted therapies and immunotherapies.

In summary, genomic instability is a key feature of cancer cells and is associated with various diseases, including cancer, neurodegenerative disorders, and aging. It can arise from a variety of sources and is the subject of ongoing research in the field of molecular biology.

The exact cause of HCM is not fully understood, but it is thought to be related to a combination of genetic and environmental factors. Some people with HCM have a family history of the condition, and it is also more common in certain populations such as athletes and individuals with a history of hypertension or diabetes.

Symptoms of HCM can vary from person to person and may include shortness of breath, fatigue, palpitations, and chest pain. In some cases, HCM may not cause any symptoms at all and may be detected only through a physical examination or diagnostic tests such as an echocardiogram or electrocardiogram (ECG).

Treatment for HCM typically focuses on managing symptoms and reducing the risk of complications. This may include medications to reduce blood pressure, control arrhythmias, or improve heart function, as well as lifestyle modifications such as regular exercise and a healthy diet. In some cases, surgery or other procedures may be necessary to treat HCM.

Prognosis for individuals with HCM varies depending on the severity of the condition and the presence of any complications. With appropriate treatment and management, many people with HCM can lead active and fulfilling lives, but it is important to receive regular monitoring and care from a healthcare provider to manage the condition effectively.

Symptoms of cystic fibrosis can vary from person to person, but may include:

* Persistent coughing and wheezing
* Thick, sticky mucus that clogs airways and can lead to respiratory infections
* Difficulty gaining weight or growing at the expected rate
* Intestinal blockages or digestive problems
* Fatty stools
* Nausea and vomiting
* Diarrhea
* Rectal prolapse
* Increased risk of liver disease and respiratory failure

Cystic fibrosis is usually diagnosed in infancy, and treatment typically includes a combination of medications, respiratory therapy, and other supportive care. Management of the disease focuses on controlling symptoms, preventing complications, and improving quality of life. With proper treatment and care, many people with cystic fibrosis can lead long, fulfilling lives.

In summary, cystic fibrosis is a genetic disorder that affects the respiratory, digestive, and reproductive systems, causing thick and sticky mucus to build up in these organs, leading to serious health problems. It can be diagnosed in infancy and managed with a combination of medications, respiratory therapy, and other supportive care.

The main symptoms of MERRF syndrome include:

* Myoclonus: involuntary muscle jerks or twitches
* Epilepsy: seizures that can vary in severity and frequency
* Ragged red fibers: abnormalities in the structure of nerve fibers in the brain
* Cerebellar ataxia: problems with coordination and balance
* Intellectual disability: delayed development or learning difficulties
* Autism spectrum disorder: difficulties with social interaction and communication

MERRF syndrome is a rare condition, and its prevalence is not well established. It is estimated to affect approximately 1 in 100,000 to 1 in 200,000 individuals worldwide. MERRF syndrome can be diagnosed through a combination of clinical evaluation, genetic testing, and imaging studies such as magnetic resonance imaging (MRI) or electroencephalography (EEG).

There is currently no cure for MERRF syndrome, but various treatments can help manage its symptoms. These may include medications to control seizures, physical therapy to improve coordination and balance, and speech and language therapy to address communication difficulties. In some cases, a special diet called the ketogenic diet may be recommended to reduce the frequency of seizures.

The prognosis for MERRF syndrome varies depending on the severity of the condition and the presence of other health issues. Some individuals with MERRF syndrome may have a relatively mild course, while others may experience more severe symptoms and disability. With appropriate management, many individuals with MERRF syndrome can lead fulfilling lives, although they may require ongoing support and accommodations to manage their condition.

Some examples of ectodermal dysplasias include:

* Epidermolysis bullosa (EB), a group of rare genetic disorders that cause fragile skin and mucous membranes.
* Ichthyosis, a group of genetic disorders that cause dry, scaly skin.
* Hereditary neurological and muscular atrophy (HNMA), a condition characterized by progressive loss of nerve cells and muscle wasting.

Ectodermal dysplasias can be caused by mutations in genes that are important for ectodermal development, such as genes involved in cell signaling, differentiation, and growth. These disorders can be inherited in an autosomal dominant, autosomal recessive, or X-linked manner, depending on the specific gene mutation.

There is no cure for ectodermal dysplasias, but treatment may involve managing symptoms and preventing complications. This can include using protective clothing and devices to prevent skin injury, managing infections and inflammation, and addressing any related psychosocial issues. In some cases, surgery or other procedures may be necessary to correct physical abnormalities or improve function.

Overall, ectodermal dysplasias are a diverse group of rare genetic disorders that can have a significant impact on quality of life. Early diagnosis and intervention can help manage symptoms and prevent complications, and ongoing research is focused on understanding the underlying causes of these disorders and developing new treatments.

The hallmark of HNS is the presence of multiple types of cancer, often at an early age and in multiple organs. The most common types of cancer associated with HNS are breast, ovarian, colon, stomach, pancreatic, brain, and skin cancers.

There are several different types of HNS, each caused by a mutation in a specific gene. These include:

1. Familial Adenomatous Polyposis (FAP): This is the most common type of HNS and is caused by a mutation in the APC gene. It is characterized by hundreds or thousands of adenomatous polyps (small growths) in the colon, which can become malignant over time.
2. Turcot Syndrome: This rare disorder is caused by a mutation in the APC gene and is characterized by the development of numerous polyps in the colon, as well as other physical features such as short stature, intellectual disability, and facial dysmorphism.
3. Hereditary Diffuse Gastric Cancer (HDGC): This syndrome is caused by a mutation in the CDH1 gene and is characterized by the development of diffuse gastric cancer, which is a type of stomach cancer that spreads throughout the stomach.
4. Peutz-Jeghers Syndrome (PJS): This rare disorder is caused by a mutation in the STK11 gene and is characterized by the development of polyps in the gastrointestinal tract, as well as other physical features such as pigmented macules on the skin and mucous membranes.
5. Li-Fraumeni Syndrome (LFS): This rare disorder is caused by a mutation in the TP53 gene and is characterized by an increased risk of developing several types of cancer, including breast, ovarian, and soft tissue sarcomas.

There are several other rare genetic disorders that can increase the risk of developing gastric cancer, including:

1. Hereditary Gastric Precancerous Condition (HGPC): This rare disorder is caused by a mutation in the E-cadherin gene and is characterized by the development of precancerous lesions in the stomach.
2. Familial Adenomatous Polyposis (FAP): This rare disorder is caused by a mutation in the APC gene and is characterized by the development of hundreds or thousands of colon polyps, as well as an increased risk of developing gastric cancer.
3. Turcot Syndrome: This rare disorder is caused by a mutation in the APC gene and is characterized by the development of colon polyps, as well as other physical features such as intellectual disability and facial dysmorphism.
4. MEN1 Syndrome: This rare disorder is caused by a mutation in the MEN1 gene and is characterized by an increased risk of developing multiple endocrine neoplasia, which can include gastric cancer.
5. Cowden Syndrome: This rare disorder is caused by a mutation in the PTEN gene and is characterized by an increased risk of developing various types of cancer, including gastric cancer.
6. Li-Fraumeni Syndrome: This rare disorder is caused by a mutation in the TP53 gene and is characterized by an increased risk of developing various types of cancer, including gastric cancer.

It's important to note that not all individuals with these genetic disorders will develop gastric cancer, and many other factors can contribute to the development of this disease. If you have a family history of gastric cancer or one of these rare genetic disorders, it's important to discuss your risk with a qualified healthcare professional and follow any recommended screening or prevention strategies.

The symptoms of DMD typically become apparent in early childhood and progress rapidly. They include:

* Delayed motor development
* Weakness and wasting of muscles, particularly in the legs and pelvis
* Muscle weakness that worsens over time
* Loss of muscle mass and fatigue
* Difficulty walking, running, or standing
* Heart problems, such as cardiomyopathy and arrhythmias
* Respiratory difficulties, such as breathing problems and pneumonia

DMD is diagnosed through a combination of clinical evaluation, muscle biopsy, and genetic testing. Treatment options are limited and focus on managing symptoms and improving quality of life. These may include:

* Physical therapy to maintain muscle strength and function
* Medications to manage pain, spasms, and other symptoms
* Assistive devices, such as braces and wheelchairs, to improve mobility and independence
* Respiratory support, such as ventilation assistance, to manage breathing difficulties

The progression of DMD is highly variable, with some individuals experiencing a more rapid decline in muscle function than others. The average life expectancy for individuals with DMD is approximately 25-30 years, although some may live into their 40s or 50s with appropriate medical care and support.

Duchenne muscular dystrophy is a devastating and debilitating condition that affects thousands of individuals worldwide. While there is currently no cure for the disorder, ongoing research and advancements in gene therapy and other treatments offer hope for improving the lives of those affected by DMD.

People with LFS have a high risk of developing cancer at an early age, often before the age of 40. The syndrome is usually diagnosed in individuals who have a family history of breast cancer, ovarian cancer, or soft tissue sarcomas.

The signs and symptoms of LFS can vary depending on the type of cancer that develops, but may include:

* Breast cancer: A lump or thickening in the breast, change in the size or shape of the breast, or nipple discharge
* Ovarian cancer: Abdominal pain, bloating, or swelling, difficulty eating or feeling full quickly
* Soft tissue sarcomas: A soft tissue mass or lump, often in the arm or leg

There is no cure for LFS, but regular monitoring and screening can help to detect cancer early, when it is most treatable. Treatment for cancer in LFS typically involves surgery, chemotherapy, and/or radiation therapy.

The prognosis for individuals with LFS varies depending on the type of cancer that develops and the age at which it is diagnosed. In general, the earlier cancer is detected and treated, the better the prognosis. However, the syndrome can be challenging to diagnose, as the symptoms can be nonspecific and may not appear until late in the disease process.

There is currently no cure for Li-Fraumeni Syndrome, but researchers are working to develop new treatments and improve early detection methods. Individuals with a family history of LFS or breast cancer should speak with their healthcare provider about genetic testing and counseling to determine if they may be at risk for the syndrome.

HFCM is caused by mutations in genes that encode proteins involved in the structure and function of the heart muscle. These mutations can be inherited from one's parents or can occur spontaneously. The condition typically affects multiple members of a family, and the age of onset and severity of symptoms can vary widely.

HFCM is diagnosed through a combination of physical examination, medical history, and diagnostic tests such as echocardiography, electrocardiography, and cardiac MRI. Treatment options for HFCM include medications to manage symptoms, lifestyle modifications such as regular exercise and a healthy diet, and in some cases, surgery or other procedures to repair or replace damaged heart tissue.

In summary, Cardiomyopathy, Hypertrophic, Familial (HFCM) is a genetic disorder that affects the heart muscle, leading to thickening of the heart muscle and potentially causing heart failure and other complications. It is characterized by an abnormal thickening of the heart muscle, particularly in the left ventricle, and can be inherited or caused by spontaneous mutations in genes that encode proteins involved in heart muscle structure and function.

There are several different types of craniofacial dysostosis, each with its own unique set of symptoms and characteristics. Some of the most common include:

1. Crouzon syndrome: This is a rare genetic disorder that affects the development of the skull and facial bones. It is characterized by a distinctive head shape, cleft palate, and other facial abnormalities.
2. Apert syndrome: This is another rare genetic disorder that affects the development of the skull and facial bones. It is characterized by a wide range of symptoms, including cleft palate, misshapen head shape, and other malformations.
3. Frontonasal dysplasia: This is a rare condition that affects the development of the nasal passages and sinuses. It can result in a variety of physical abnormalities, including a misshapen nose, cleft palate, and other malformations.
4. Craniosynostosis: This is a condition in which the bones of the skull fuse together too early in development, leading to an abnormal head shape. It can be caused by a variety of genetic mutations or other factors.

Craniofacial dysostosis can be diagnosed through a combination of physical examination, medical imaging (such as X-rays or CT scans), and genetic testing. Treatment for these disorders depends on the specific type and severity of the condition, but may include surgery, orthodontic treatment, and other therapies to help correct physical abnormalities and improve function and appearance.

In addition to the physical challenges posed by craniofacial dysostosis, individuals with these conditions may also experience emotional and social difficulties due to their appearance or limitations in function. As such, it is important for healthcare providers to provide comprehensive care that addresses both the physical and psychosocial aspects of these disorders.

Overall, craniofacial dysostosis is a diverse group of conditions that can have a significant impact on an individual's quality of life. Early diagnosis and appropriate treatment can help improve outcomes for individuals with these conditions, and ongoing research is working to advance our understanding of the causes and management of craniofacial dysostosis.

The diagnosis of achondroplasia is typically made based on physical examination, medical history, and imaging studies such as X-rays or CT scans. There is no cure for achondroplasia, but treatment may include physical therapy, occupational therapy, and surgery to correct associated health problems such as spinal curvature or bowed legs.

The prognosis for individuals with achondroplasia varies depending on the severity of the condition and the presence of any associated health problems. With proper medical care and support, many individuals with achondroplasia can lead active and fulfilling lives. However, they may face challenges related to social stigma, access to education and employment, and other aspects of daily life.

The prevalence of achondroplasia is estimated to be about 1 in 25,000 to 1 in 40,000 births. It affects both males and females equally, and there is no known ethnic or racial predilection. There is a high risk of recurrence in families, with a 50% chance that an affected parent will pass the mutated gene to each child.

In conclusion, achondroplasia is a rare genetic disorder that affects the development of cartilage and bone, leading to short stature and characteristic physical features. While there is no cure for the condition, proper medical care and support can help individuals with achondroplasia lead fulfilling lives. With increased awareness and understanding of the condition, more individuals with achondroplasia are able to access education, employment, and other resources that support their well-being and independence.

There are several types of chromosome aberrations, including:

1. Chromosomal deletions: Loss of a portion of a chromosome.
2. Chromosomal duplications: Extra copies of a chromosome or a portion of a chromosome.
3. Chromosomal translocations: A change in the position of a chromosome or a portion of a chromosome.
4. Chromosomal inversions: A reversal of a segment of a chromosome.
5. Chromosomal amplifications: An increase in the number of copies of a particular chromosome or gene.

Chromosome aberrations can be detected through various techniques, such as karyotyping, fluorescence in situ hybridization (FISH), or array comparative genomic hybridization (aCGH). These tests can help identify changes in the chromosomal makeup of cells and provide information about the underlying genetic causes of disease.

Chromosome aberrations are associated with a wide range of diseases, including:

1. Cancer: Chromosome abnormalities are common in cancer cells and can contribute to the development and progression of cancer.
2. Birth defects: Many birth defects are caused by chromosome abnormalities, such as Down syndrome (trisomy 21), which is caused by an extra copy of chromosome 21.
3. Neurological disorders: Chromosome aberrations have been linked to various neurological disorders, including autism and intellectual disability.
4. Immunodeficiency diseases: Some immunodeficiency diseases, such as X-linked severe combined immunodeficiency (SCID), are caused by chromosome abnormalities.
5. Infectious diseases: Chromosome aberrations can increase the risk of infection with certain viruses, such as human immunodeficiency virus (HIV).
6. Ageing: Chromosome aberrations have been linked to the ageing process and may contribute to the development of age-related diseases.
7. Radiation exposure: Exposure to radiation can cause chromosome abnormalities, which can increase the risk of cancer and other diseases.
8. Genetic disorders: Many genetic disorders are caused by chromosome aberrations, such as Turner syndrome (45,X), which is caused by a missing X chromosome.
9. Rare diseases: Chromosome aberrations can cause rare diseases, such as Klinefelter syndrome (47,XXY), which is caused by an extra copy of the X chromosome.
10. Infertility: Chromosome abnormalities can contribute to infertility in both men and women.

Understanding the causes and consequences of chromosome aberrations is important for developing effective treatments and improving human health.

Congenital hand deformities are present at birth and can be caused by genetic mutations or environmental factors during fetal development. They can affect any part of the hand, including the fingers, thumb, or wrist. Some common congenital hand deformities include:

1. Clubhand: A deformity characterized by a shortened hand with the fingers and thumb all bent towards the palm.
2. Clinodactyly: A deformity characterized by a curved or bent finger.
3. Postaxial polydactyly: A deformity characterized by an extra digit on the little finger side of the hand.
4. Preaxial polydactyly: A deformity characterized by an extra digit on the thumb side of the hand.
5. Symbrachydactyly: A deformity characterized by a shortened or missing hand with no or only a few fingers.

The symptoms of congenital hand deformities can vary depending on the type and severity of the deformity. Some common symptoms include:

1. Limited range of motion in the affected hand.
2. Difficulty grasping or holding objects.
3. Pain or stiffness in the affected hand.
4. Abnormal finger or thumb position.
5. Aesthetic concerns.

The diagnosis of congenital hand deformities is usually made through a combination of physical examination, medical history, and imaging studies such as X-rays or ultrasound. Treatment options for congenital hand deformities can vary depending on the type and severity of the deformity and may include:

1. Surgery to correct the deformity.
2. Physical therapy to improve range of motion and strength.
3. Bracing or splinting to support the affected hand.
4. Orthotics or assistive devices to help with daily activities.
5. Medications to manage pain or inflammation.

It is important to seek medical attention if you suspect that your child may have a congenital hand deformity, as early diagnosis and treatment can improve outcomes and reduce the risk of complications.

* Genetic mutations or chromosomal abnormalities
* Infections during pregnancy, such as rubella or toxoplasmosis
* Exposure to certain medications or chemicals during pregnancy
* Maternal malnutrition or poor nutrition during pregnancy
* Certain medical conditions, such as hypothyroidism or anemia.

Microcephaly can be diagnosed by measuring the baby's head circumference and comparing it to established norms for their age and gender. Other signs of microcephaly may include:

* A small, misshapen head
* Small eyes and ears
* Developmental delays or intellectual disability
* Seizures or other neurological problems
* Difficulty feeding or sucking

There is no cure for microcephaly, but early diagnosis and intervention can help manage the associated symptoms and improve quality of life. Treatment may include:

* Monitoring growth and development
* Physical therapy to improve muscle tone and coordination
* Occupational therapy to develop fine motor skills and coordination
* Speech therapy to improve communication skills
* Medication to control seizures or other neurological problems.

In some cases, microcephaly may be associated with other medical conditions, such as intellectual disability, autism, or vision or hearing loss. It is important for individuals with microcephaly to receive regular monitoring and care from a team of healthcare professionals to address any related medical issues.

1. Muscular dystrophy: A group of genetic disorders characterized by progressive muscle weakness and degeneration.
2. Myopathy: A condition where the muscles become damaged or diseased, leading to muscle weakness and wasting.
3. Fibromyalgia: A chronic condition characterized by widespread pain, fatigue, and muscle stiffness.
4. Rhabdomyolysis: A condition where the muscle tissue is damaged, leading to the release of myoglobin into the bloodstream and potentially causing kidney damage.
5. Polymyositis/dermatomyositis: Inflammatory conditions that affect the muscles and skin.
6. Muscle strain: A common injury caused by overstretching or tearing of muscle fibers.
7. Cervical dystonia: A movement disorder characterized by involuntary contractions of the neck muscles.
8. Myasthenia gravis: An autoimmune disorder that affects the nerve-muscle connection, leading to muscle weakness and fatigue.
9. Oculopharyngeal myopathy: A condition characterized by weakness of the muscles used for swallowing and eye movements.
10. Inclusion body myositis: An inflammatory condition that affects the muscles, leading to progressive muscle weakness and wasting.

These are just a few examples of the many different types of muscular diseases that can affect individuals. Each condition has its unique set of symptoms, causes, and treatment options. It's important for individuals experiencing muscle weakness or wasting to seek medical attention to receive an accurate diagnosis and appropriate care.

Disease progression can be classified into several types based on the pattern of worsening:

1. Chronic progressive disease: In this type, the disease worsens steadily over time, with a gradual increase in symptoms and decline in function. Examples include rheumatoid arthritis, osteoarthritis, and Parkinson's disease.
2. Acute progressive disease: This type of disease worsens rapidly over a short period, often followed by periods of stability. Examples include sepsis, acute myocardial infarction (heart attack), and stroke.
3. Cyclical disease: In this type, the disease follows a cycle of worsening and improvement, with periodic exacerbations and remissions. Examples include multiple sclerosis, lupus, and rheumatoid arthritis.
4. Recurrent disease: This type is characterized by episodes of worsening followed by periods of recovery. Examples include migraine headaches, asthma, and appendicitis.
5. Catastrophic disease: In this type, the disease progresses rapidly and unpredictably, with a poor prognosis. Examples include cancer, AIDS, and organ failure.

Disease progression can be influenced by various factors, including:

1. Genetics: Some diseases are inherited and may have a predetermined course of progression.
2. Lifestyle: Factors such as smoking, lack of exercise, and poor diet can contribute to disease progression.
3. Environmental factors: Exposure to toxins, allergens, and other environmental stressors can influence disease progression.
4. Medical treatment: The effectiveness of medical treatment can impact disease progression, either by slowing or halting the disease process or by causing unintended side effects.
5. Co-morbidities: The presence of multiple diseases or conditions can interact and affect each other's progression.

Understanding the type and factors influencing disease progression is essential for developing effective treatment plans and improving patient outcomes.

MEN2A is characterized by the presence of multiple tumors in the endocrine glands, including thyroid nodules, parathyroid adenomas, and pheochromocytomas (tumors of the adrenal glands). These tumors can be benign or malignant, and they can cause a variety of symptoms depending on their location and size.

The most common symptoms of MEN2A include:

1. Thyroid nodules: These are abnormal growths in the thyroid gland that can be benign or malignant.
2. Parathyroid adenomas: These are benign tumors that develop in the parathyroid glands, which regulate calcium levels in the body.
3. Pheochromocytomas: These are rare tumors that develop in the adrenal glands, which produce hormones such as adrenaline and noradrenaline.
4. Hyperparathyroidism: This is a condition where the parathyroid glands produce too much parathyroid hormone (PTH), leading to high calcium levels in the blood.
5. Hypoparathyroidism: This is a condition where the parathyroid glands do not produce enough PTH, leading to low calcium levels in the blood.
6. Adrenal insufficiency: This is a condition where the adrenal glands do not produce enough cortisol and aldosterone, leading to fatigue, weight loss, and other symptoms.

MEN2A is usually diagnosed through a combination of imaging tests such as ultrasound, CT scans, and MRI, and genetic testing to identify the presence of the RET mutation. Treatment for MEN2A typically involves surgery to remove the tumors and management of symptoms with medications.

Symptoms of ichthyosis can include:

* Thickened, scaly skin on the arms, legs, back, and chest
* Redness and itching
* Cracking and splitting of the skin
* Increased risk of infection
* Respiratory problems

Treatment for ichthyosis typically involves the use of topical creams and ointments to help soften and hydrate the skin, as well as oral medications to reduce inflammation and itching. In severe cases, phototherapy or systemic corticosteroids may be necessary.

In addition to these medical treatments, there are also several home remedies and lifestyle modifications that can help manage the symptoms of ichthyosis. These include:

* Moisturizing regularly with a fragrance-free moisturizer
* Avoiding harsh soaps and cleansers
* Using lukewarm water when showering or bathing
* Applying cool compresses to the skin to reduce redness and inflammation
* Wearing loose, breathable clothing to avoid irritating the skin
* Protecting the skin from extreme temperatures and environmental stressors.

There are several subtypes of carcinoma, including:

1. Adenocarcinoma: This type of carcinoma originates in glandular cells, which produce fluids or mucus. Examples include breast cancer, prostate cancer, and colon cancer.
2. Squamous cell carcinoma: This type of carcinoma originates in squamous cells, which are found on the surface layers of skin and mucous membranes. Examples include head and neck cancers, cervical cancer, and anal cancer.
3. Basal cell carcinoma: This type of carcinoma originates in the deepest layer of skin, called the basal layer. It is the most common type of skin cancer and tends to grow slowly.
4. Neuroendocrine carcinoma: This type of carcinoma originates in cells that produce hormones and neurotransmitters. Examples include lung cancer, pancreatic cancer, and thyroid cancer.
5. Small cell carcinoma: This type of carcinoma is a highly aggressive form of lung cancer that spreads quickly to other parts of the body.

The signs and symptoms of carcinoma depend on the location and stage of the cancer. Some common symptoms include:

* A lump or mass
* Pain
* Skin changes, such as a new mole or a change in the color or texture of the skin
* Changes in bowel or bladder habits
* Abnormal bleeding

The diagnosis of carcinoma typically involves a combination of imaging tests, such as X-rays, CT scans, MRI scans, and PET scans, and a biopsy, which involves removing a small sample of tissue for examination under a microscope. Treatment options for carcinoma depend on the location and stage of the cancer and may include surgery, radiation therapy, chemotherapy, or a combination of these.

In conclusion, carcinoma is a type of cancer that originates in epithelial cells and can occur in various parts of the body. Early detection and treatment are important for improving outcomes.

References:

1. American Cancer Society. (2022). Carcinoma. Retrieved from
2. Mayo Clinic. (2022). Carcinoma. Retrieved from
3. MedlinePlus. (2022). Carcinoma. Retrieved from

There are two types of polydactyly:

1. Postaxial polydactyly: This is the most common type, where an extra finger is located on the little finger side of the hand.
2. Preaxial polydactyly: This type occurs when an extra finger is located on the thumb side of the hand.

Polydactyly can be caused by genetic mutations or environmental factors during fetal development. In some cases, it may be associated with other genetic syndromes or conditions such as Down syndrome or Turner syndrome.

Treatment for polydactyly usually involves surgical removal of the extra digits to improve function and appearance. The procedure is typically performed in early childhood, as it can be more difficult to perform later in life. In some cases, polydactyly may not require treatment if the extra digits are not causing any problems or if they are fully formed and functional.

In summary, polydactyly is a congenital condition where an individual has more than five fingers or toes, and it can be treated with surgical removal of the extra digits.

Adenomas are caused by genetic mutations that occur in the DNA of the affected cells. These mutations can be inherited or acquired through exposure to environmental factors such as tobacco smoke, radiation, or certain chemicals.

The symptoms of an adenoma can vary depending on its location and size. In general, they may include abdominal pain, bleeding, or changes in bowel movements. If the adenoma becomes large enough, it can obstruct the normal functioning of the affected organ or cause a blockage that can lead to severe health complications.

Adenomas are usually diagnosed through endoscopy, which involves inserting a flexible tube with a camera into the affected organ to visualize the inside. Biopsies may also be taken to confirm the presence of cancerous cells.

Treatment for adenomas depends on their size, location, and severity. Small, non-pedunculated adenomas can often be removed during endoscopy through a procedure called endoscopic mucosal resection (EMR). Larger adenomas may require surgical resection, and in some cases, chemotherapy or radiation therapy may also be necessary.

In summary, adenoma is a type of benign tumor that can occur in glandular tissue throughout the body. While they are not cancerous, they have the potential to become malignant over time if left untreated. Therefore, it is important to seek medical attention if symptoms persist or worsen over time. Early detection and treatment can help prevent complications and improve outcomes for patients with adenomas.

Individuals with this condition may have a range of symptoms, including:

* Undescended testes (cryptorchidism) or absent testes
* Infertility or lack of secondary sexual characteristics (such as beard growth or deepened voice)
* Variations in the shape and structure of the testes
* Chromosomal abnormalities, such as an extra X or Y chromosome

The cause of gonadal dysgenesis, 46,XY is not fully understood, but it is thought to be related to genetic mutations that affect the development of the testes during fetal development. Treatment options for this condition may include hormone replacement therapy, surgery to correct undescended testes, and assisted reproductive technology (such as in vitro fertilization) to achieve pregnancy.

It is important to note that gonadal dysgenesis, 46,XY is a rare condition and may not be the sole cause of infertility or other reproductive issues. A thorough medical evaluation and genetic testing may be necessary to determine the underlying cause of these issues.

There are several different types of EHK, each with its own unique set of symptoms and characteristics. Some common features of the condition include:

* Thick, hardened scales on the skin that can be yellow or brown in color
* Cracking and peeling of the skin, particularly on the palms of the hands and soles of the feet
* Redness and inflammation of the skin, especially around the areas where the scales are cracked or peeled
* Blisters or sores on the skin that can be painful and difficult to heal
* Skin thickening and scarring

EHK is usually diagnosed through a combination of physical examination, medical history, and genetic testing. Treatment for the condition typically focuses on managing symptoms and preventing complications. This may include:

* Topical medications to soften and remove scales
* Antibiotics to treat infections
* Pain management medication
* Wound care and debridement (removal of dead skin cells)

There is currently no cure for EHK, but researchers are working to develop new treatments and therapies that may help to improve the condition. With proper management and care, many people with EHK are able to lead active and fulfilling lives.

The QT interval is a measure of the time it takes for the ventricles to recover from each heartbeat and prepare for the next one. In people with LQTS, this recovery time is prolonged, which can disrupt the normal rhythm of the heart and increase the risk of arrhythmias.

LQTS is caused by mutations in genes that encode proteins involved in the cardiac ion channels, which regulate the flow of ions into and out of the heart muscle cells. These mutations can affect the normal functioning of the ion channels, leading to abnormalities in the electrical activity of the heart.

Symptoms of LQTS can include palpitations, fainting spells, and seizures. In some cases, LQTS can be diagnosed based on a family history of the condition or after a sudden death in an otherwise healthy individual. Other tests, such as an electrocardiogram (ECG), echocardiogram, and stress test, may also be used to confirm the diagnosis.

Treatment for LQTS typically involves medications that regulate the heart's rhythm and reduce the risk of arrhythmias. In some cases, an implantable cardioverter-defibrillator (ICD) may be recommended to monitor the heart's activity and deliver an electric shock if a potentially life-threatening arrhythmia is detected. Lifestyle modifications, such as avoiding stimuli that trigger symptoms and taking precautions during exercise and stress, may also be recommended.

In summary, Long QT syndrome is a rare inherited disorder that affects the electrical activity of the heart, leading to an abnormal prolongation of the QT interval and an increased risk of irregular and potentially life-threatening heart rhythms. It is important for individuals with LQTS to be closely monitored by a healthcare provider and to take precautions to manage their condition and reduce the risk of complications.

The symptoms of PMD usually become apparent during infancy or early childhood and can include:

* Delayed development of motor skills such as sitting, standing, and walking
* Weakness and stiffness in the muscles
* Poor coordination and balance
* Vision loss or blindness
* Hearing loss
* Difficulty with speech and communication

As the disease progresses, children with PMD may experience a range of cognitive and behavioral changes, including:

* Intellectual disability
* Autism spectrum disorder
* Behavioral problems such as aggression and anxiety

There is no cure for PMD, and treatment is focused on managing the symptoms and supporting the child's development. This may include physical therapy, occupational therapy, speech therapy, and medications to manage seizures and other complications.

The prognosis for children with PMD is generally poor, and many do not survive beyond early adulthood. However, with appropriate medical care and support, some individuals with the disease may lead relatively long and fulfilling lives.

It's important to note that Pelizaeus-Merzbacher disease is a rare disorder, and there are only a few cases reported in the medical literature each year. As such, it can be challenging to diagnose and manage, and patients with the disease may require specialized care from a team of healthcare professionals with experience in treating rare genetic disorders.

Symptoms of hemophilia B can include prolonged bleeding after an injury or surgery, easy bruising, and frequent nosebleeds. Treatment typically involves infusing the patient with factor IX to replace the deficient protein and promote blood clotting. Regular injections of factor IX may be necessary to prevent bleeding episodes.

Hemophilia B is relatively rare, affecting approximately 1 in 25,000 males in the United States. It can be diagnosed through a series of blood tests that measure the levels of factor IX and other clotting factors in the blood. Preventative measures such as avoiding contact sports and receiving regular infusions of factor IX can help manage the condition and prevent complications.

In severe cases, hemophilia B can lead to joint damage, internal bleeding, and even death if left untreated. However, with proper medical care and management, most people with hemophilia B can lead active and relatively normal lives.

There are three main types of EBS, each with different severity and symptoms:

1. Epidermolysis Bullosa Simplex (EBS) - the mildest form, characterized by minor skin blistering and scarring.
2. Epidermolysis Bullosa Junctional (EBJ) - a more severe form, involving the skin and mucous membranes, with more extensive blistering and scarring.
3. Epidermolysis Bullosa Dystrophic (EBD) - the most severe form, with widespread blistering, scarring, and disfigurement, as well as a high risk of squamous cell carcinoma.

EBS is caused by mutations in one of several genes that are responsible for creating proteins important for skin strength and stability. The disorder is usually inherited in an autosomal dominant pattern, meaning that a single copy of the mutated gene is enough to cause the condition.

Treatment for EBS typically focuses on managing symptoms and preventing complications, such as infection and scarring. This may include:

1. Wound care - keeping wounds clean and covered to promote healing and prevent infection.
2. Pain management - using medication to manage pain associated with blistering and scarring.
3. Physical therapy - exercises and stretches to improve joint mobility and reduce the risk of contractures.
4. Phototherapy - exposure to specific wavelengths of light to help heal skin and reduce inflammation.
5. Surgery - in severe cases, surgery may be necessary to remove scar tissue or repair damaged skin.

There is currently no cure for EBS, but researchers are working to develop new treatments and therapies to improve quality of life for people with the disorder.

Causes: There are several causes of night blindness, including:

1. Vitamin A deficiency: Vitamin A is essential for the health of the retina, and a deficiency can lead to night blindness.
2. Retinitis pigmentosa: This is a group of inherited conditions that can cause progressive damage to the retina and result in night blindness.
3. Cataracts: A cataract can cause a person to become night blind by blocking the light that enters the eye.
4. Glaucoma: This is a group of eye conditions that can damage the optic nerve and lead to vision loss, including night blindness.
5. Other medical conditions: Certain medical conditions such as diabetes, multiple sclerosis, and stroke can cause night blindness.

Symptoms: The symptoms of night blindness can vary depending on the underlying cause, but common symptoms include:

1. Difficulty seeing in low light environments
2. Blind spots or missing areas of vision
3. Sensitivity to light
4. Glare or halos around lights
5. Difficulty adjusting to changes in light levels

Diagnosis: Night blindness is typically diagnosed through a comprehensive eye exam, which may include a visual acuity test, refraction test, and retinal examination. Imaging tests such as an OCT scan or retinal photography may also be used to evaluate the retina and optic nerve.

Treatment: The treatment of night blindness depends on the underlying cause. For example, vitamin A supplements may be prescribed for a vitamin A deficiency, while cataract surgery may be recommended for cataracts. In some cases, no treatment may be necessary, and the condition may resolve on its own over time.

Prevention: While some cases of night blindness are unavoidable, there are steps you can take to reduce your risk of developing the condition. These include:

1. Maintaining a healthy diet that includes foods rich in vitamin A and other essential nutrients for eye health.
2. Wearing sunglasses with UV protection to protect your eyes from excessive sunlight.
3. Avoiding smoking and excessive alcohol consumption, which can damage the optic nerve and retina.
4. Getting regular eye exams to detect any underlying eye problems early on.
5. Wearing protective eyewear when engaging in activities that could potentially harm your eyes, such as sports or working with hazardous materials.

1. Medical Definition: In medicine, dwarfism is defined as a condition where an individual's height is significantly below the average range for their age and gender. The term "dwarfism" is often used interchangeably with "growth hormone deficiency," but the two conditions are not the same. Growth hormone deficiency is a specific cause of dwarfism, but there can be other causes as well, such as genetic mutations or chromosomal abnormalities.
2. Genetic Definition: From a genetic perspective, dwarfism can be defined as a condition caused by a genetic mutation or variation that results in short stature. There are many different genetic causes of dwarfism, including those caused by mutations in the growth hormone receptor gene, the insulin-like growth factor 1 (IGF1) gene, and other genes involved in growth and development.
3. Anthropological Definition: In anthropology, dwarfism is defined as a physical characteristic that is considered to be outside the normal range for a particular population or culture. This can include individuals who are short-statured due to various causes, including genetics, nutrition, or environmental factors.
4. Social Definition: From a social perspective, dwarfism can be defined as a condition that is perceived to be different or abnormal by society. Individuals with dwarfism may face social stigma, discrimination, and other forms of prejudice due to their physical appearance.
5. Legal Definition: In some jurisdictions, dwarfism may be defined as a disability or a medical condition that is protected by anti-discrimination laws. This can provide legal protections for individuals with dwarfism and ensure that they have access to the same rights and opportunities as others.

In summary, the definition of dwarfism can vary depending on the context in which it is used, and it may be defined differently by different disciplines and communities. It is important to recognize and respect the diversity of individuals with dwarfism and to provide support and accommodations as needed to ensure their well-being and inclusion in society.

There are several types of thyroid neoplasms, including:

1. Thyroid nodules: These are abnormal growths or lumps that can develop in the thyroid gland. Most thyroid nodules are benign (non-cancerous), but some can be malignant (cancerous).
2. Thyroid cancer: This is a type of cancer that develops in the thyroid gland. There are several types of thyroid cancer, including papillary, follicular, and medullary thyroid cancer.
3. Thyroid adenomas: These are benign tumors that develop in the thyroid gland. They are usually non-cancerous and do not spread to other parts of the body.
4. Thyroid cysts: These are fluid-filled sacs that can develop in the thyroid gland. They are usually benign and do not cause any symptoms.

Thyroid neoplasms can be caused by a variety of factors, including genetic mutations, exposure to radiation, and certain medical conditions, such as thyroiditis (inflammation of the thyroid gland).

Symptoms of thyroid neoplasms can include:

* A lump or swelling in the neck
* Pain in the neck or throat
* Difficulty swallowing or breathing
* Hoarseness or voice changes
* Weight loss or fatigue

Diagnosis of thyroid neoplasms usually involves a combination of physical examination, imaging tests (such as ultrasound or CT scans), and biopsies. Treatment depends on the type and severity of the neoplasm, and can include surgery, radiation therapy, and medications.

The condition is caused by mutations in the genes that code for proteins involved in cholesterol transport and metabolism, such as the low-density lipoprotein receptor gene (LDLR) or the PCSK9 gene. These mutations lead to a decrease in the ability of the liver to remove excess cholesterol from the bloodstream, resulting in high levels of LDL cholesterol and low levels of HDL cholesterol.

Hyperlipoproteinemia type II is usually inherited in an autosomal dominant pattern, meaning that a single copy of the mutated gene is enough to cause the condition. However, some cases can be caused by spontaneous mutations or incomplete penetrance, where not all individuals with the mutated gene develop the condition.

Symptoms of hyperlipoproteinemia type II can include xanthomas (yellowish deposits of cholesterol in the skin), corneal arcus (a white, waxy deposit on the iris of the eye), and tendon xanthomas (small, soft deposits of cholesterol under the skin). Treatment typically involves a combination of dietary changes and medication to lower LDL cholesterol levels and increase HDL cholesterol levels. In severe cases, liver transplantation may be necessary.

Hyperlipoproteinemia type II is a serious condition that can lead to cardiovascular disease, including heart attacks, strokes, and peripheral artery disease. Early diagnosis and treatment are important to prevent or delay the progression of the disease and reduce the risk of complications.

There are several subtypes of EDS, each with different symptoms and characteristics. The most common forms of EDS include:

1. Classical EDS: This is the most common form of EDS and is characterized by skin that is highly elastic and stretchy, as well as joint hypermobility (loose joints) and tissue fragility.
2. Hypermobile EDS: This subtype is similar to classical EDS but has a milder form of joint hypermobility.
3. Hypermobility Spectrum Disorder (HSD): This is a newer term that encompasses individuals with hypermobile joints and musculoskeletal pain, without the typical skin features of EDS.
4. Vascular EDS: This rare subtype is characterized by fragile blood vessels that can rupture easily, leading to life-threatening complications such as organ failure or death.
5. Arthrochalasia EDS: This subtype is characterized by joint hypermobility and dislocations, as well as other features such as scoliosis and pectus excavatum (a depression in the chest wall).

EDS can affect people of all ages and genders, and it is estimated that one in 2,500 to 5,000 individuals have some form of EDS. The symptoms of EDS can vary widely depending on the subtype and severity of the condition, but common symptoms include:

* Skin that is highly elastic and stretchy
* Joint hypermobility (loose joints)
* Tissue fragility
* Muscle weakness
* Chronic pain
* Fatigue
* GI issues
* Sleep disturbances
* Neurological problems such as headaches, seizures, and poor coordination

EDS is caused by mutations in genes that code for collagen or other proteins that provide structure and strength to connective tissue. These mutations can be inherited from one's parents or can occur spontaneously. There is currently no cure for EDS, but various treatments can help manage the symptoms. These may include:

* Pain management medication
* Physical therapy
* Bracing or orthotics to support weakened joints
* Surgery to repair damaged tissues or correct physical deformities
* Lifestyle modifications such as regular exercise, a healthy diet, and stress reduction techniques.

It's important to note that EDS can be difficult to diagnose, as the symptoms can be subtle and may not be immediately apparent. A thorough medical history and physical examination, along with specialized testing such as genetic analysis or imaging studies, may be necessary to confirm the diagnosis.

The main symptoms of progeria include:

1. Rapid growth and development during the first two years of life, followed by slowed growth and loss of fat and muscle mass.
2. A distinctive facial appearance, including a small face, thin nose, and narrow eyes.
3. Wasting of the skin, hair, and joints.
4. Cardiovascular disease, such as hardening of the arteries and heart problems.
5. Osteoporosis and joint degeneration.
6. Respiratory problems, including frequent colds and difficulty breathing.
7. Eye problems, including cataracts and glaucoma.
8. Increased risk of stroke and other cardiovascular complications.

Progeria is a fatal condition, with most children dying from heart disease or stroke before the age of 21. However, some individuals with progeria have been known to live into their 30s or 40s due to advances in medical care and technology. There is currently no cure for progeria, but researchers are working to develop new treatments to slow down the progression of the disease and improve the quality of life for those affected.

Symptoms of hemolytic anemia may include fatigue, weakness, shortness of breath, dizziness, headaches, and pale or yellowish skin. Treatment options depend on the underlying cause but may include blood transfusions, medication to suppress the immune system, antibiotics for infections, and removal of the spleen (splenectomy) in severe cases.

Prevention strategies for hemolytic anemia include avoiding triggers such as certain medications or infections, maintaining good hygiene practices, and seeking early medical attention if symptoms persist or worsen over time.

It is important to note that while hemolytic anemia can be managed with proper treatment, it may not be curable in all cases, and ongoing monitoring and care are necessary to prevent complications and improve quality of life.

The symptoms of Marfan syndrome can vary widely among individuals with the condition, but typically include:

1. Tall stature (often over 6 feet 5 inches)
2. Long limbs and fingers
3. Curvature of the spine (scoliosis)
4. Flexible joints
5. Eye problems, such as nearsightedness, glaucoma, and detached retinas
6. Heart problems, such as mitral valve prolapse and aortic dilatation
7. Blood vessel problems, such as aneurysms and dissections
8. Lung problems, such as pneumothorax (collapsed lung)
9. Other skeletal problems, such as pectus excavatum (a depression in the chest wall) and clubfoot

Marfan syndrome is usually diagnosed through a combination of clinical evaluation, family history, and genetic testing. Treatment for the condition typically involves managing its various symptoms and complications, such as with medication, surgery, or lifestyle modifications. Individuals with Marfan syndrome may also need to avoid activities that could exacerbate their condition, such as contact sports or heavy lifting.

While there is currently no cure for Marfan syndrome, early diagnosis and appropriate management can help individuals with the condition live long and relatively healthy lives. With proper care and attention, many people with Marfan syndrome are able to lead fulfilling lives and achieve their goals.

The symptoms of myotonia congenita can vary in severity and may include:

* Muscle stiffness and rigidity, especially in the legs, arms, and neck
* Difficulty relaxing muscles after contraction, leading to prolonged muscle tensing
* Muscle cramps and spasms
* Weakness and fatigue of the muscles
* Delayed or absent deep tendon reflexes
* Abnormal posture or gait
* Difficulty with speech and swallowing in severe cases

Myotonia congenita can be diagnosed through a combination of clinical evaluation, electromyography (EMG), and genetic testing. Treatment for the condition typically involves physical therapy, massage, and relaxation techniques to help manage muscle stiffness and improve mobility. In severe cases, medications such as sodium channel blockers or chloride channel activators may be prescribed to help regulate muscle contraction and relaxation.

Myotonia congenita is a rare condition, and its prevalence is not well established. However, it is estimated to affect approximately 1 in 100,000 to 1 in 200,000 individuals worldwide. The condition can be inherited in an autosomal dominant manner, meaning that a single copy of the mutated gene is enough to cause the condition. However, some cases may be sporadic, meaning they are not inherited from either parent.

Overall, myotonia congenita is a rare and complex genetic disorder that affects the muscles and can significantly impact an individual's quality of life. With proper diagnosis and management, individuals with myotonia congenita can lead fulfilling lives despite the challenges posed by the condition.

Point mutations may arise from spontaneous mutations that occur during DNA replication. The rate of mutation may be increased ... Point mutations in multiple tumor suppressor proteins cause cancer. For instance, point mutations in Adenomatous Polyposis Coli ... ISBN 978-0-300-08540-2. Wikimedia Commons has media related to Point mutation. Point+Mutation at the US National Library of ... a mutation called a frameshift mutation). Point mutations that occur in non-coding sequences are most often without ...
... point accepted mutation matrices (PAM matrices) and the PAMn matrix. The term 'point accepted mutation' refers to the mutation ... In particular, silent mutations are not point accepted mutations, nor are mutations that are lethal or that are rejected by ... One of the possible mutations that occurs is the replacement of a single nucleotide, known as a point mutation. If a point ... The term accepted point mutation was initially used to describe the mutation phenomenon. However, the acronym PAM was preferred ...
... based on the biological point mutation, is called single point mutation. Other types are inversion and floating point mutation ... Thus, a mutation rate of 1 {\displaystyle 1} per mutation and individual selected for mutation is reached. Shrink This operator ... For different genome types, different mutation types are suitable: Bit string mutation The mutation of bit strings ensue ... The purpose of mutation in GAs is to introduce diversity into the sampled population. Mutation operators are used in an attempt ...
... s are given for specific classes of mutations. Point mutations are a class of mutations which are changes to a ... Missense and Nonsense mutations are two subtypes of point mutations. The rate of these types of substitutions can be further ... The rate for other forms of mutation also differs greatly from point mutations. An individual microsatellite locus often has a ... In genetics, the mutation rate is the frequency of new mutations in a single gene or organism over time. Mutation rates are not ...
A point mutation can be reversed by another point mutation, in which the nucleotide is changed back to its original state (true ... Point mutations may arise from spontaneous mutations that occur during DNA replication. The rate of mutation may be increased ... A heterozygous mutation is a mutation of only one allele. A homozygous mutation is an identical mutation of both the paternal ... Suppressor mutations are a type of mutation that causes the double mutation to appear normally. In suppressor mutations the ...
"Post-zygotic Point Mutations Are an Underrecognized Source of De Novo Genomic Variation". The American Journal of Human ... spontaneous mutations and induced mutations. How detrimental a mutation is to an organism is dependent on what the mutation is ... or large mutations that affect entire chromosomes and are divided into two classes, spontaneous mutations and induced mutations ... Germ- line mutations are the result of a change in the genetic structure of germ cells. These mutations are able to be ...
Two NRTI mutations and four NNRTI mutations were commonly found, which can now be tested for using an inexpensive point-of-care ... A study identified the most common resistance mutations so that point of care tests could determine the resistance mutations of ... HIV drug resistance mutations figures FDA-Approved HIV Medicines CDC Explanation of Influenza Resistance Mutations (Mutation). ... At this point a resistance mutation has occurred because the new strain of virus is now resistant to the antiviral treatment ...
A fraction of rhodopsin mutations alter the C-terminal tail of the protein, such as the point mutations P347L, P347S, P347R, ... In 1990, the Pro23His mutation of the rhodopsin gene was reported as the first mutation associated with RP. This mutation has ... Most of these mutations are missense mutations affecting single amino acid residues in the rhodopsin protein. These mutations ... 1990). "A point mutation of the rhodopsin gene in one form of retinitis pigmentosa". Nature. 343 (6256): 364-366. Bibcode: ...
Mutations involving amines have been shown to be a prevalent source of changes in behaviour. A point mutation in the structural ... A mutation known as the black mutation causes reduced levels of β-alanine and results in less reactive flies than the wild type ... Brunner, H.; Nelen, M; Breakefield, X.; Ropers, H.; Van Oost, B. (1993). "Abnormal behavior associated with a point mutation in ... A behaviour mutation is a genetic mutation that alters genes that control the way in which an organism behaves, causing their ...
There are at least two other types of recognized point mutations, specifically missense mutation and nonsense mutation. A ... Translational frameshift Mutation Transcription (genetics) Translation (biology) codon protein reading frame point mutation ... Both of these mutations commonly occur in tandem with at least one other mutation. They both lead to a small decrease in the ... Mutations in the β-hexosaminidase A (Hex A) gene are known to affect the onset of Tay-Sachs, with 78 mutations of different ...
A splice site mutation of ADAMTS-13 gene can therefore cause TTP. It is estimated that 15% of all point mutations causing human ... According to this study, a point mutation was the culprit for the splice-donor site mutation, which occurred in intron 6. A ... A splice site mutation is a genetic mutation that inserts, deletes or changes a number of nucleotides in the specific site at ... In addition to a mutation in a stop codon, a splice site mutation on the 3' strand was found in a gene coding for cystatin B in ...
A nonsense mutation also differs from a nonstop mutation, which is a point mutation that removes a stop codon. About 10% of ... Missense mutations differ from nonsense mutations since they are point mutations that exhibit a single nucleotide change to ... In genetics, a nonsense mutation is a point mutation in a sequence of DNA that results in a premature stop codon, or a nonsense ... Beneficial nonsense mutations are the rarest of possible nonsense mutation outcomes. Beneficial nonsense mutations increase the ...
... refers to a change in one amino acid in a protein, arising from a point mutation in a single nucleotide. ... In genetics, a missense mutation is a point mutation in which a single nucleotide change results in a codon that codes for a ... Missense mutations can render the resulting protein nonfunctional, and such mutations are responsible for human diseases such ... Not all missense mutations lead to appreciable protein changes. An amino acid may be replaced by an amino acid of very similar ...
April 1989). "Analysis of any point mutation in DNA. The amplification refractory mutation system (ARMS)". Nucleic Acids ... It can also introduce deletions, insertions or point mutations into a DNA sequence. PAN-AC: uses isothermal conditions for ... Site-directed mutagenesis: PCR can be used to create mutant genes with mutations chosen by scientists at will. These mutations ... At these points, one primer set recognizes DNA with cytosines to amplify methylated DNA, and one set recognizes DNA with uracil ...
Motang and yells "There's something wrong with the baby!" Mutation comes from Jordan's point of view. She begins to notices ... Arrival is told from Luke Hunter's point of view, as he and his recently divorced mother, Emily, move into Phoenix, a town run ... Fallout is told from Jordan's point of view. It starts with Luke, Jordan, Reeve, Luke's dad, Kara, Soren and a girl who is ... Contact switches to Peter's point of view. After he, Jordan and Luke hear the ringing phone in the town square, Peter finds out ...
The relevant point mutation resulted in S140G; the site of the mutation participates in the N-site of the formed α-tubulin, and ... TUBA1A mutation is common in microlissencephaly Keays et al. describe a mouse with a mutation of the TUBA1A gene induced by N- ... 105 (6 Pt 2): 3065-73. doi:10.1083/jcb.105.6.3065. PMC 2114727. PMID 3693406. Cowan NJ, Dobner PR, Fuchs EV, Cleveland DW ( ... The S140G mutation resulted in the formation of a "compromised GTP binding pocket". Authors note defects associated with ...
April 1989). "Analysis of any point mutation in DNA. The amplification refractory mutation system (ARMS)". Nucleic Acids ... cut the genomic sample results in an identifiably larger than expected fragment implying that there is a mutation at the point ... An SNP is a single base pair mutation at a specific locus, usually consisting of two alleles (where the rare allele frequency ... Because DASH genotyping is measuring a quantifiable change in Tm, it is capable of measuring all types of mutations, not just ...
Sequence alignment Point accepted mutation Henikoff, S.; Henikoff, J.G. (1992). "Amino Acid Substitution Matrices from Protein ... Commonly used substitution matrices include the blocks substitution (BLOSUM) and point accepted mutation (PAM) matrices. Both ... Changing a single amino acid in a protein may reduce its ability to carry out this function, or the mutation may even change ... This is known as a mutation. At the molecular level, there are regulatory systems that correct most - but not all - of these ...
1989). "Analysis of any point mutation in DNA. The amplification refractory mutation system (ARMS)". Nucleic Acids Res. 17 (7 ... In the case of point mutations, oligonucleotides targeted to the lagging strand are designed to alter the either the PAM ... The SCAR-less method is able to induce point mutations, oligonucleotide-mediated deletions, and short sequence insertions with ... Therefore, efficiency can be low (0.1-10% for point mutations; 10−5-10−6 for insertions, deletions, or replacements) and ...
... point mutation, with an expansion in one allele and a point mutation in the other. A missense point mutation can have milder ... Depending on the point mutation, cells can produce no frataxin, nonfunctional frataxin, or frataxin that is not properly ... February 1999). "Friedreich's ataxia: point mutations and clinical presentation of compound heterozygotes". Annals of Neurology ... The condition is caused by mutations in the FXN gene on chromosome 9, which makes a protein called frataxin. In FRDA, cells ...
... s can be contrasted with a point mutation. An indel inserts or deletes nucleotides from a sequence, while a point mutation ... In coding regions of the genome, unless the length of an indel is a multiple of 3, it will produce a frameshift mutation. For ... Indels can also be contrasted with Tandem Base Mutations (TBM), which may result from fundamentally different mechanisms. A TBM ... Hill KA, Wang J, Farwell KD, Sommer SS (January 2003). "Spontaneous tandem-base mutations (TBM) show dramatic tissue, age, ...
ENU introduces missense point mutations; screening for mutations in a particular exon of DISC1 can produce mouse models with ... Sdy mice have homozygous mutations to DTNBP1, and lack the ability to produce dysbindin, heterozygous mutants can be produced ... PPP3CC PPP3CC is a gene in which mutations are risk factors for schizophrenia; knockout animal models have social deficits. ...
May 2001). "SHOX point mutations in dyschondrosteosis". Journal of Medical Genetics. 38 (5): 323. doi:10.1136/jmg.38.5.323. PMC ... May 1998). "SHOX mutations in dyschondrosteosis (Leri-Weill syndrome)". Nature Genetics. 19 (1): 67-9. doi:10.1038/ng0198-67. ... May 1998). "Mutation and deletion of the pseudoautosomal gene SHOX cause Leri-Weill dyschondrosteosis". Nature Genetics. 19 (1 ... August 2000). "Mutations in short stature homeobox containing gene (SHOX) in dyschondrosteosis but not in hypochondroplasia". ...
Chang, Y.-J.; Jin, J.; Nam, H.-Y.; Kim, S.-U. (2005-03-01). "Point mutation of (+)-germacrene A synthase from Ixeris dentata". ...
Chang YJ, Jin J, Nam HY, Kim SU (2005). "Point mutation of (+)-germacrene A synthase from Ixeris dentata". Biotechnol. Lett. 27 ...
It is a point genetic mutation of Pinot noir. Pinot noir is genetically unstable and will occasionally experience a point ... The less colorful mutation of Pinot Noir, Pinot Blanc is nonetheless well-traveled, producing delicate white wines in Italy and ... mutation in which a vine bears all black fruit except for one cane which produces white fruit. In Alsace, Germany, Luxembourg, ...
EMS typically produces only point mutations. Due to its potency and well understood mutational spectrum, EMS is the most ... corresponds to a raw mutation rate of ~7x10−6 mutations per G/C base pair, or about 250 mutations within an originally ... EMS can induce mutations at a rate of 5x10−4 to 5x10−2 per gene without substantial killing. A 5x10−4 per gene mutation rate ... Pegg, Anthony E (2000). "Repair of O6-alkylguanine by alkyltransferases". Mutation Research/Reviews in Mutation Research. ...
Leroy H, Roumier C, Huyghe P, Biggio V, Fenaux P, Preudhomme C (March 2005). "CEBPA point mutations in hematological ... N-terminal frameshift mutation, and C-terminal mutation. These mutations are most frequently found in acute myeloid leukemia M1 ... Patients with CEBPA mutations have longer remission duration and survival time than those without the mutations. Therefore, the ... There are two major categories which CEBPA mutations can be categorized into. One category of mutations prevent CCAAT/enhancer- ...
Absence of the XK protein (such as through genetic deletion or through a single point mutation within the coding region of the ... 1998 May 29;273(22):13950-6. "Entrez Gene: KEL". Russo DC, Lee S, Reid ME, Redman CM (Mar 2002). "Point mutations causing the ... Yu LC, Twu YC, Chang CY, Lin M (March 2001). "Molecular basis of the Kell-null phenotype: a mutation at the splice site of ... OMIM entry for XK protein Kell at BGMUT Blood Group Antigen Gene Mutation Database at NCBI, NIH KEL+protein,+human at the US ...
"KDM6A point mutations cause Kabuki syndrome". Human Mutation. 34 (1): 108-10. doi:10.1002/humu.22229. PMID 23076834. S2CID ... Point mutations of KDM6A have been identified as one cause of Kabuki syndrome, a congenital disorder resulting in intellectual ... KDM5C mutations on the X-chromosome have also been observed in patients with X-linked intellectual disability. Depletion of ... Mutation of KDM5B disrupt gonad development in C.elegans. Other studies have shown that KDM6B expression is upregulated in ...
Up to that point, Chekhov, known as "Russia's most elusive literary bachelor," had preferred passing liaisons and visits to ... ISBN 978-90-04-12011-2. Clayton, J. Douglas (2013). Adapting Chekhov: The Text and Its Mutations. Routledge. pp. 269-270. ISBN ...
"Molecular cloning of the human UMP synthase gene and characterization of point mutations in two hereditary orotic aciduria ...
At some point before the Middle English period, [ɡ] also became the pronunciation word-initially. the voiceless sonorants [w̥, ... The process known as i-mutation (which for example led to modern mice as the plural of mouse). Loss of certain weak vowels in ... Anglo-Saxon England portal Anglish Exeter Book Go (verb) History of the Scots language I-mutation Ingvaeonic nasal spirant law ... Diphthongisation of certain vowels before certain consonants when preceding a back vowel ("back mutation"). Loss of /x/ between ...
95 (Pt 2): 278-91. doi:10.1099/vir.0.059634-0. PMID 24243731. Clarke IN, Lambden PR (May 2000). "Organization and expression of ... Tan M, Huang P, Meller J, Zhong W, Farkas T, Jiang X (2003). "Mutations within the P2 domain of norovirus capsid affect binding ... It is not yet clear as to at what specific point in the Norovirus replication cycle bile salts facilitate infection: ... Approximately 20% of Caucasians are non-secretors due to G428A and C571T nonsense mutations in FUT2 and therefore have strong ...
Mutations in c-Src could be involved in the malignant progression of colon cancer. c-Src should not be confused with CSK (C- ... It is believed that at one point an ancestral virus mistakenly incorporated the c-Src gene of its cellular host. Eventually ... A common mechanism is that there are genetic mutations that result in the increased activity or the overexpression of the c-Src ...
The mutation rate per base pair per replication during phage T4 DNA synthesis is 1.7 per 108. Termination of DNA replication in ... McCarthy D, Minner C, Bernstein H, Bernstein C (October 1976). "DNA elongation rates and growing point distributions of wild- ... Drake JW (1970) The Molecular Basis of Mutation. Holden-Day, San Francisco ISBN 0816224501 ISBN 978-0816224500.[page needed] ...
... disease-causing mutations) in the PIK3CA gene which, when having activating mutations, may promote the development and/or ... Peck B, Bland P, Mavrommati I, Muirhead G, Cottom H, Wai PT, Maguire SL, Barker HE, Morrison E, Kriplani D, Yu L, Gibson A, ... mutations in the PIK3CA gene (~40% of cases), and the expression of neuroendocrine differentiation-related proteins such as the ... Studies have also identified individuals with EPS tumors that have hot spot mutations (i.e. ...
Mutation in the TENM3/ODZ3 gene in humans has been associated with the eye condition, microphthalmia. Teneurin protein was ... 112 (Pt 12): 2019-32. doi:10.1242/jcs.112.12.2019. PMID 10341219. "Entrez Gene: TENM3 teneurin transmembrane protein 3". ... PCR analysis identified the homozygous null mutation to be in the ODZ3 gene, which is important for the early developing eye. ... Aldahmesh, M. A.; Mohammed, J. Y.; Al-Hazzaa, S.; Alkuraya, F. S. (2012). "Homozygous null mutation in ODZ3 causes ...
133 (Pt 8): 2382-2393. doi:10.1093/brain/awq158. PMID 20576697. Sasaki H, Emi M, Iijima H, Ito N, Sato H, Yabe I, et al. (June ... Mutations in this substance may play a role in the disease. The conformation of the alpha-synuclein is different from that of ... 127 (Pt 12): 2657-2671. doi:10.1093/brain/awh303. PMID 15509623. Brettschneider J, Suh E, Robinson JL, Fang L, Lee EB, Irwin DJ ... 132 (Pt 1): 156-171. doi:10.1093/brain/awn291. PMC 2638696. PMID 19029129. Oertel WH, Wächter T, Quinn NP, Ulm G, Brandstädter ...
23 (Pt A): 3-11. doi:10.1016/j.arr.2014.12.009. PMC 4886828. PMID 25560147. Checler, F; da Costa, CA; Ancolio, K; Chevallier, N ... "Molecular analysis of the Mov 34 mutation: transcript disrupted by proviral integration in mice is conserved in Drosophila". ...
Its melting point or its temperature of decomposition is 150 - 153 °C at which it starts to emit toxic vapors such as nitrogen ... and structural changes in high-resolution crystal structures of HIV-1 protease with drug-resistant mutations L24I, I50V, and ... The end point of the study was death or development of opportunistic infections. After 38 weeks, 6% of the people in the three- ... They started a laboratory dedicated to AIDS research in West Point, Pennsylvania and placed Emilio Emini in charge of the ...
2006). "BH3 domain mutation of proapoptotic genes Bad, Bmf and Bcl-G is rare in transitional cell carcinomas of the urinary ... J. 377 (Pt 3): 597-605. doi:10.1042/BJ20031251. PMC 1223895. PMID 14561217. Morales AA, Olsson A, Celsing F, et al. (2004). " ... 377 (Pt 3): 597-605. doi:10.1042/BJ20031251. PMC 1223895. PMID 14561217. Hattori A, Okumura K, Nagase T, et al. (2001). " ...
At this point, β-catenin becomes a coactivator for TCF and LEF to activate Wnt genes by displacing Groucho and HDAC ... Mutations in genes encoding these proteins can lead to inactivation of cadherin cell adhesions and elimination of contact ... Mutations in catenin genes can cause loss of contact inhibition that can promote cancer development and tumor formation. ... Mutations associated with aberrant epithelial cell layer growth due to lack of adhesions and contact inhibition Down-regulated ...
... pt-pt), CS1 Canadian French-language sources (fr-ca), CS1 Dutch-language sources (nl), CS1 German-language sources (de), CS1 ... DNA virus has evolved roughly 6-12-fold more mutations than one would expect and 15 SNP mutations since the beginning of the ... This points to transmission due to close contact during sex as being the main route of transmission. In May 2022, the European ... There are already 14 cases of monkeypox in Portugal]. www.dn.pt (in European Portuguese). Archived from the original on 18 May ...
It subsequently appears under Ra's al Ghul's control in "The Demon's Quest" Pt. 1 and Pt. 2, "Showdown", and "Avatar". The ... Lady Shiva leads some of her ninjas into obtaining the Calibosix (a cell mutation virus) from the Gotham Contagion Research ... Cassandra Cain has apparently taken over the League as its new leader, although she abandoned the League at some point prior to ... Other stories would suggest that at some points afterwards Shiva worked as a member of the League, and eyewitness testimony ...
... fair play points; 7) draw (P) Promoted; (R) Relegated Source: fff.fr Rules for classification: 1) points; 2) head-to-head ... "Ligue Paris Ile-de-France: Commission des Statuts et Règlements et Contrôle des Mutations: PROCÈS-VERBAL N° 30" (PDF) (in ... fair play points; 7) draw (P) Promoted; (R) Relegated Source: fff.fr Rules for classification: 1) points; 2) head-to-head ... and deducting a penalty point from Chambly (res). Source: fff.fr Rules for classification: 1) points; 2) head-to-head results; ...
One key point made by the Advisors was that scientists must be clearer about the degree of uncertainty that characterises the ... country has decided to suspend flights to and from the UK until 6 January 2021 because of what was then a new COVID-19 mutation ... According to regional council president Jean Rottner, the starting point for the first intense wave in Alsace was the Fasting ... Health and state authorities issued precautionary guidelines and recommendations, while measures up to that point were taken ...
He said the government will not be bringing in the measures "at this point" but warns daily cases could rise to 100,000 a day. ... "Covid-19: New mutation of Delta variant under close watch in UK". BBC News. 19 October 2021. Retrieved 20 October 2021. "Covid ... As many of 15% of the company's employees were absent from work at one point because of the "pingdemic" caused by the app, and ... The Day 2 PCR test for returning travellers will be replaced by a lateral flow test from a point later in October. Eight ...
Mutations in the ABL1 gene are associated with chronic myelogenous leukemia (CML). In CML, the gene is activated by being ... J. 370 (Pt 1): 29-34. doi:10.1042/BJ20021539. PMC 1223168. PMID 12475393. Ren R, Ye ZS, Baltimore D (April 1994). "Abl protein- ... Roig J, Tuazon PT, Zipfel PA, Pendergast AM, Traugh JA (December 2000). "Functional interaction between c-Abl and the p21- ...
Autosomal dominant mutations in the Notch 3 gene (on the long arm of chromosome 19) cause an abnormal accumulation of Notch 3 ... 131 (Pt 9): 2520-5. doi:10.1093/brain/awn019. PMID 18287121. Hemelsoet D, Hemelsoet K, Devreese D (March 2008). "The ... However, as this is quite expensive and CADASIL is a systemic arteriopathy, evidence of the mutation can be found in small and ... October 1996). "Notch3 mutations in CADASIL, a hereditary adult-onset condition causing stroke and dementia". Nature. 383 (6602 ...
Mutations have been associated with periphery neuropathy, and sensory disorders. It is highly expressed in the spinal cord, as ... The molecular weight of the protein is 76.5 kilodaltons, and the isoelectric point is 5.47.The gene has 6 transcript splice ...
1987). "Analysis of mutation in human cells by using an Epstein-Barr virus shuttle system". Mol. Cell. Biol. 7 (1): 379-87. doi ... J. 326 (Pt 1): 1-16. doi:10.1042/bj3260001. PMC 1218630. PMID 9337844. Clements GB, Klein G, Povey S (1975). "Production by EBV ... J. 342 (Pt 1): 65-70. doi:10.1042/0264-6021:3420065. PMC 1220437. PMID 10432301. GeneReviews/NCBI/NIH/UW entry on Autoimmune ... This protein cleaves and activates caspases 3 and 7, and the protein itself is processed by caspase 8. Mutations in this gene ...
At these points, the inland traders typically handed over their goods to local brokers or to coastal merchants who might ... their language might have undergone a mutation process Rahanweyn tribes are aggregates of many diverse clan attached to a small ...
Inspection of the genitalia with care and palpation must be conducted with the following points in mind. Determining the degree ... During this stage, genetic mutations can result from endocrine disrupters in the mother's diet or environmental factors. The ...
Indeed, a mutation in the Na⁺-K⁺ pump causes rapid onset dystonia-parkinsonism, which has symptoms to indicate that it is a ... 252 (3 Pt 1): C328-34. doi:10.1152/ajpcell.1987.252.3.c328. PMID 3030131. Glitsch HG, Tappe A (January 1993). "The Na+/K+ pump ... 209 (Pt 4): 677-88. doi:10.1242/jeb.02052. PMID 16449562. S2CID 39271006. Yuan Z, Cai T, Tian J, Ivanov AV, Giovannucci DR, Xie ... 353 (Pt 2): 377-85. doi:10.1042/0264-6021:3530377. PMC 1221581. PMID 11139403. Forrest MD, Wall MJ, Press DA, Feng J (December ...
in French) Le Point, Quand les économistes perdent le sens commun, 15 September 2011. (Articles with French-language sources ( ... Mutations, Crises et Régulation, Economica Paris 2004 Les Entreprises Françaises 2004, Economica, Paris 2004 Economie ... Banking in France, Routledge, London 1990 Les mutations de l'économie française, Economica, Paris 1997 Monnaie et Economie, ... Economica, Paris 1998 Les mutations de l'économie mondiale, Economica, Paris 2000 Les Entreprises Françaises 2001, Economica, ...
A novel approach to testing for induced point mutations in mammals". Humangenetik. 26 (3): 231-43. doi:10.1007/bf00281458. PMID ...
Mutations in mitochondrial tRNAs can be responsible for severe diseases like the MELAS and MERRF syndromes. Mutations in ... 19 Pt B: 334-7. doi:10.1016/j.mito.2014.02.002. PMID 24561221. D'Onorio de Meo P, D'Antonio M, Griggio F, Lupi R, Borsani M, ... The outcome of mutation in mtDNA may be an alteration in the coding instructions for some proteins, which may have an effect on ... Recently a mutation in mtDNA has been used to help diagnose prostate cancer in patients with negative prostate biopsy. mtDNA ...
... the nucleus has more than one lobe At this point in time, ESCO2 is the only known gene to cause Roberts syndrome mutations. ... The mutation causes cell division to occur slowly or unevenly, and the cells with abnormal genetic content die. Roberts ... It is caused by a mutation in the ESCO2 gene. It is one of the rarest autosomal recessive disorders, affecting approximately ... At this time, there are no other phenotypes (observable expressions of a gene) that have been discovered for mutations in the ...
1993). "Thyroxine-binding globulin variant (TBG-Kumamoto): identification of a point mutation and genotype analysis of its ... 1989). "A mutation causing reduced biological activity and stability of thyroxine-binding globulin probably as a result of ... However, if total thyroid hormone levels point to hypothyroidism or hyperthyroidism in the absence of accompanying symptoms, ... caused by a new nonsense mutation in the thyroxine-binding globulin gene". Thyroid. 8 (2): 161-5. doi:10.1089/thy.1998.8.161. ...
Mayer, Bruce J. and Jackson, Peter K. and Van Etten, Richard A. and Baltimore, David (1992) Point mutations in the abl SH2 ... Point mutations in the abl SH2 domain coordinately impair phosphotyrosine binding in vitro and transforming activity in vivo ... Point mutations in the abl SH2 domain coordinately impair phosphotyrosine binding in vitro and transforming activity in vivo. B ... We have constructed a series of point mutations in the highly conserved FLVRES motif of the src homology 2 (SH2) domain of the ...
Gain-of-function mutations in either the pore-forming (Kir6.2) or regulatory (SUR1) subunit of this channel are a common cause ... ns3:p,,ns3:p, ,ns3:bold,Results:,/ns3:bold, We found that the R1183W mutation impaired inhibition of K,ns3:sub,ATP,/ns3:sub, ... Based on our findings, we recommend future TNDM mouse models employing a gain-of-function SUR1 mutation should be created using ... we generated mice expressing the common TNDM mutation SUR1-R1183W. We employed Cre/LoxP technology for both inducible and ...
Relative Free Enthalpies for Point Mutations in Two Proteins with Highly Similar Sequences but Different Folds. * Mendeley ...
Re: Alchemical transformations and DDG of point mutations. From: Gianluca Interlandi (gianluca_at_u.washington.edu). Date: Mon ... Next in thread: Jérôme Hénin: "Re: Alchemical transformations and DDG of point mutations" *Messages sorted by: [ date ] [ ... Next in thread: Jérôme Hénin: "Re: Alchemical transformations and DDG of point mutations" *Messages sorted by: [ date ] [ ... Previous message: JC Gumbart: "Re: Alchemical transformations and DDG of point mutations" *In reply to: JC Gumbart: "Re: ...
Point Mutation of the E-Cadherin Gene in Invasive Lobular Carcinoma of the Breast. / Kanai, Yae; Oda, Tatsuya; Tsuda, Hitoshi ... Point Mutation of the E-Cadherin Gene in Invasive Lobular Carcinoma of the Breast. In: Japanese Journal of Cancer Research. ... Kanai Y, Oda T, Tsuda H, Ochiai A, Hirohashi S. Point Mutation of the E-Cadherin Gene in Invasive Lobular Carcinoma of the ... Kanai, Y., Oda, T., Tsuda, H., Ochiai, A., & Hirohashi, S. (1994). Point Mutation of the E-Cadherin Gene in Invasive Lobular ...
Explanation of the exon skipping technique for point mutations in DMD patients ... Exon skipping for point mutations. Small mutations can directly lead to premature stop codons (nonsense mutation) or disrupt ... Figure 1. Single exon skipping for point mutations. If the small mutation is present in an exon that contains a number of ... if the mutation is present in an in-frame exon, such as exon 49 that contains 102 nucleotides (divisible by 3), the mutation ...
Molecular genetic analysis of an endotoxin nonresponder mutant cell line: a point mutation in a conserved region of MD-2 ... Molecular genetic analysis of an endotoxin nonresponder mutant cell line: a point mutation in a conserved region of MD-2 ...
Les mer om Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation på orpha.net ... Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation. Engelsk navn: Facial ... Les mer om Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation på ... dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation Dette er en undertype av en annen ...
Dive into the research topics of Characterization of a novel butyrylcholinesterase point mutation (p.Ala34Val), "silent" with ... Characterization of a novel butyrylcholinesterase point mutation (p.Ala34Val), "silent" with mivacurium. In: Biochemical ... Characterization of a novel butyrylcholinesterase point mutation (p.Ala34Val), "silent" with mivacurium. / Delacour, Herve; ... Characterization of a novel butyrylcholinesterase point mutation (p.Ala34Val), "silent" with mivacurium. Biochemical ...
... Dajian Zhang1,2†, Xiaoyu Guo1 ... OsCIPK7 point-mutation leads to conformation and kinase-activity change for sensing cold response[J]. J Integr Plant Biol., ... Here, an OsCIPK7 mutant via TILLING procedure with a point mutation in the kinase domain showed increased chilling tolerance, ... We found that this point mutation of OsCIPK7 led to a conformational change in the activation loop of the kinase domain, ...
Since the mutated residues in the point mutants, I174S, I260Q, M282L, H285D, E288K, an … ... Catalytic effects of mutations of distant protein residues in human DNA polymerase β: theory and experiment Biochemistry. 2012 ... Since the mutated residues in the point mutants, I174S, I260Q, M282L, H285D, E288K, and K289M, were not located in the Pol β ... catalytic site, we assumed that the WT and its point mutants share the same dianionic phosphorane transition-state structure of ...
Point mutations do not affect gating by steroids. Mutation of two residues in the β2 subunit, β2(Y205S) and β2(Y157S), did not ... Point mutations alter the binding and actions of bicuculline and gabazine. Both the β2(Y157S) and β2(Y205S) mutations reduce ... 1992) Point mutations affecting antagonist affinity and agonist dependent gating of GABAA receptor channels. EMBO J 11:2017- ... Point mutations of a residue in the α1 subunit (F64) have also been shown to reduce the affinity of GABA, bicuculline, and ...
Heres what oncology nurses need to know about BRCA mutations. ... BRCA Mutations Point to Hereditary Breast and Ovarian Cancer ... In men, up to 40% of breast cancers may be related to BRCA mutations, and men with the mutations are up to seven times more ... People often assume that men are not affected by BRCA mutations, but thats a misconception. In men, BRCA mutations are ... The risk of contralateral breast cancer in BRCA mutation carriers is two to three times that of women without mutations. For ...
Two different types of pydiflumetofen-resistant mutants were identified point mutation P225L in sdhB and double mutation G85A ... Two types of point mutations, sdhB-P225L and sdhC-G85A and I93V, might confer resistance to pydiflumetofen in B. cinerea. A ... Resistance to pydiflumetofen in Botrytis cinerea: risk assessment and detection of point mutations in sdh genes that confer ... Resistance to pydiflumetofen in Botrytis cinerea: risk assessment and detection of point m ...
High-Throughput Screening for Induced Point Mutations journal, June 2001 * Colbert, Trenton; Till, Bradley J.; Tompa, Rachel ... Targeted screening for induced mutations journal, April 2000 * McCallum, Claire M.; Comai, Luca; Greene, Elizabeth A. ... Androgenesis Conditioned by a Mutation in Maize journal, December 1969 * Kermicle, J. L. ... Mutation Research/Reviews in Genetic Toxicology, Vol. 75, Issue 1, p. 63-129 ...
Characterization of Therapeutically Targetable Ntrk Point Mutations in LeukemiaDisclosures ... Discovery & Characterization of Therapeutically Targetable Ntrk Point Mutations in LeukemiaDisclosures. Title. Discovery & ... Discovery & Characterization of Therapeutically Targetable Ntrk Point Mutations in LeukemiaDisclosures. ...
Single point mutation can confer resistance.§§§. Single point mutation can confer minor resistance; however, multiple mutations ... Single point mutation can confer minor resistance; however, multiple mutations are needed for high-level resistance and the ... to assess F13L viral mutations that might be associated with resistance. Phenotypic testing to evaluate resistance is also ...
This is first report of detection of mutation in Gyr A enzyme in S.enterica , that codes for point mutation in the Quinolone ... Detection of Mutations in gyrA Gene that Codes for Point Mutation in Floroquinolone Resistant Salmonella enterica Serotypes ... The polymerase chain reaction revealed the absence of double mutation in parC gene and also the presence of point mutation in ... Detection of Mutations in gyrA Gene that Codes for Point Mutation in Floroquinolone Resistant Salmonella enterica Serotypes ...
In vitro, the GRIA3(A653T) mutation stabilizes the channel in a closed conformation, in contrast to Lurcher. We introduced the ... GRIA3 encodes GluA3, a subunit of AMPA-type ionotropic glutamate receptors (AMPARs). The mutation (A653T) falls within the ... orthologous mutation into a mouse strain by CRISPR-Cas9 mutagenesis and found that hemizygous mutants displayed significant ... A point mutation in the ion conduction pore of AMPA receptor GRIA3 causes dramatically perturbed sleep patterns as well as ...
One percent of cases have a G-to-C DNA point change at nucleotide 1138, causing the G1138C mutation. A rare missense mutation ( ... A specific point mutation results; hence, an amino acid substitution occurs. [13] About 98% of diagnosed patients have the ... Approximately 80% of cases are due to a new (de novo) dominant mutation, with the mutation rate estimated to be 1.4 x 10-5 per ... The two mutations, G1138A and G1138C, cause increased function of the FGFR3 gene. These mutations cause decreased endochondral ...
Mutation. description. Allele Type: Endonuclease-mediated (Humanized sequence, Hypomorph). Mutation: Single point mutation ... Summary , Mutation origin , Mutation description , Expression , Phenotypes , Disease models , Find Mice (IMSR) , References ... Mutation details: CRISPR/Cas9 technology generated a C to G change at position 708 (c.708C>G) resulting in a tyrosine to X ... Carrying this Mutation: Mouse Strains: 0 strains available Cell Lines: 0 lines available ...
Here, we use laboratory evolution, population-wide sequencing and biochemical characterizations to identify mutations in ... 3d). The mutations did not introduce instability to the variants as judged from their "melting points"57 (Supplementary Fig. 3e ... A novel point mutation promotes growth phase-dependent daptomycin tolerance in Staphylococcus aureus. Antimicrob. Agents ... Genomically repairing nuo-mutation. P1vir phage transduction was used to genomically revert the identified mutations in nuoL, M ...
Unicode Strings and point mutation.. 6 hours 47 min ago. *multiple posts. 2 weeks 3 hours ago ...
HIV-1 Drug Resistance Mutations: Potential Applications for Point-of-Care Genotypic Resistance Testing ... HIV-1 Drug Resistance Mutations: Potential Applications for Point-of-Care Genotypic Resistance Testing ... Effect of point-of-care C-reactive protein testing on antibiotic prescription in febrile patients attending primary care in ... Association of mutations in P. falciparum Kelch13 gene with parasite clearance rates after artemisinin-based treatments ...
Saccharomyces cerevisiae Point Mutation Assay (Negative) * Saccharomyces cerevisiae Mitotic Crossover and Gene Conversion Assay ... Resistance to ciprofloxacin due to spontaneous mutations occurs at a general frequency of between , 10 -9 to 1x10 -6 . Cross ... Resistance to fluoroquinolones occurs primarily by either mutations in the DNA gyrases, decreased outer membrane permeability, ... In vitro resistance to ciprofloxacin develops slowly by multiple step mutations. ...
Point mutations in TTR increase the tendency of TTR to form amyloid. Amyloidogenic TTR mutations are inherited as an autosomal ... For example, in ATTR, 100 different points of single mutations, double mutations, or deletions in the TTR gene and several ... Amyloid fibrils include a gelsolin fragment that contains a point mutation. Two amyloidogenic gelsolin mutations are described ... Point mutations occur in a gene termed BIGH3, which encodes keratoepithelin and leads to autosomal dominant corneal dystrophies ...
Our patient acquired that mutation at some point during her life.. So essentially what we discovered was that we could use a ... So even if you were a patient and you knew your tumour had a BRAF mutation, since it is not a standard of care, insurance may ... But lets start with an amazing story which points to the importance of a person with cancer knowing the genetic profile of ... David Solit: Thats a great point. There are I guess many nihilists in the current cancer research community who feel that many ...
An international mammoth collaboration has catalogued mutations in the coding and noncoding regions of more than 2600 genomes ... Driver point mutations played a major role in colorectal adenocarcinomas and mature B-cell lymphomas. Many driver mutations ... Of 47 million point mutations in 2583 unique samples, the researchers noted that 22% were early clonal events; 7%, late clonal ... Driver mutations in KRAS, TP53, and PIK3CA and noncoding driver mutations in TERT were deemed early events in the evolution of ...
Point mutation rate lower than NGS detection limit​. Residue rate of dsDNA = lower than 0.5% ... Increased read lengths and improved data quality allow for early detection of point mutations​ ...
  • Butyrylcholinesterase deficiency is characterized by prolonged apnea after the use of muscle relaxants (suxamethonium or mivarcurium) in patients who have mutations in the BCHE gene. (nebraska.edu)
  • A total of 55 stool samples were collected, out of which 25 clinical isolates of Salmonella enterica serotypes from the Hospital in the South east Nigeria were investigated on for βlactamase enzyme production and the presence of mutation in the gyrase A gene, an enzyme that codes for point mutation and resistant in quinolone, using phenotypic and molecular methods. (ajphs.com)
  • The polymerase chain reaction revealed the absence of double mutation in parC gene and also the presence of point mutation in gyr Agene in the DNA chromosome of 9(36%) of the isolates. (ajphs.com)
  • The mutation (A653T) falls within the highly conserved transmembrane domain of the ion channel gate, immediately adjacent to the analogous residue in the Grid2 (glutamate receptor) gene, which is mutated in the mouse neurobehavioral mutant, Lurcher. (ox.ac.uk)
  • Achondroplasia is caused by mutations in the fibroblast growth factor receptor-3 ( FGFR3 ) gene. (medscape.com)
  • The two mutations, G1138A and G1138C, cause increased function of the FGFR3 gene. (medscape.com)
  • At least two mutations in the GLI3 gene have been reported in people with features of acrocallosal syndrome, a rare condition characterized by certain brain abnormalities, extra fingers and toes (polydactyly), and distinctive facial features, including widely spaced eyes (hypertelorism) and a prominent forehead. (medlineplus.gov)
  • These signs and symptoms overlap significantly with those of Greig cephalopolysyndactyly syndrome (described below), so acrocallosal syndrome resulting from GLI3 gene mutations is sometimes considered a severe form of that condition. (medlineplus.gov)
  • The GLI3 gene mutations that cause acrocallosal syndrome change single protein building blocks (amino acids) in a particular region of the GLI3 protein, which disrupts the protein's function. (medlineplus.gov)
  • At least 120 mutations in the GLI3 gene have been identified in people with Greig cephalopolysyndactyly syndrome, which is a rare condition characterized by polydactyly, hypertelorism, a broad forehead, and an unusually large head (macrocephaly). (medlineplus.gov)
  • More than 40 mutations in the GLI3 gene have been found to cause Pallister-Hall syndrome, a rare condition whose major features include polydactyly, an abnormal growth in the brain called a hypothalamic hamartoma, and a malformation of the airway called a bifid epiglottis. (medlineplus.gov)
  • Most of the mutations that cause Pallister-Hall syndrome occur near the middle of the gene, creating a premature stop signal in the instructions for making the GLI3 protein. (medlineplus.gov)
  • Mutations in the GLI3 gene have been found in people who have polydactyly without the other features of acrocallosal syndrome, Greig cephalopolysyndactyly syndrome, or Pallister-Hall syndrome (described above). (medlineplus.gov)
  • GLI3 gene mutations can cause several forms of isolated polydactyly. (medlineplus.gov)
  • GLI3 gene mutations can also cause preaxial polydactyly type IV (PPD-IV), which is characterized by extra digits next to the thumb or big toe (hallux) and fused skin between some fingers and toes (cutaneous syndactyly). (medlineplus.gov)
  • No mutation was detected at codon 164 of the dhfr gene. (who.int)
  • 59, 108 and 164 of dhfr gene and 437, 540 and 581 of with three mutations in the dhfr gene (Ile 51, Arg 59, dhps gene were investigated. (who.int)
  • Molecular analysis revealed 11 genetic mutations of the beta-thalassaemia gene, among which 5 mutations accounted for 88% of the total beta-thalassaemia genes identified [IVS-1-5 (G-C), Fr 8/9 (+G), Fr 41/42 (-TTCT), IVS-1-1 (G-T) and Del 619]. (who.int)
  • In sickle cell anemia, a point mutation on the β-globin gene results in glutamic acid substituting for valine at position 6 of the amino acid sequence. (medscape.com)
  • Mutation in the LMNA gene causes over-production of progerin, a farnesylated-aberrant protein. (medscape.com)
  • Some mutations in the S gene may lead to changes in the spike protein which result in inhibition of contact and entry of the virus into human cells, however in the case of the VOC, they contain mutations in the S gene that enhance the process of contact and entry into human cells, increasing transmissibility of the virus. (who.int)
  • Currently, manufacturers are focusing on and targeting assays to mutations in the S gene. (who.int)
  • Here, we use laboratory evolution, population-wide sequencing and biochemical characterizations to identify mutations in respiratory complex I and discover how they promote persistence in Escherichia coli . (nature.com)
  • Fourteen years ago, the genomic community sequenced its first cancer exome [the protein-coding region], and it was able to identify mutations in roughly 20,000 protein-coding genes in the human cell. (medscape.com)
  • We have constructed a series of point mutations in the highly conserved FLVRES motif of the src homology 2 (SH2) domain of the abl tyrosine kinase. (caltech.edu)
  • Women who carry a mutation in the BRCA1 or BRCA2 genes are at significantly increased risk for breast and ovarian cancer. (ons.org)
  • Resistance to pydiflumetofen in Botrytis cinerea: risk assessment and detection of point mutations in sdh genes that confer resistance. (bvsalud.org)
  • Sulfadoxine-pyrimethamine (SP), the current first line antimalarial drug in Tanzania, is compromised by evolution and spread of mutations in the parasite's dhfr and dhps genes. (who.int)
  • We introduced the orthologous mutation into a mouse strain by CRISPR-Cas9 mutagenesis and found that hemizygous mutants displayed significant differences in the structure of their activity and sleep compared to wild-type littermates. (ox.ac.uk)
  • Small mutations can directly lead to premature stop codons (nonsense mutation) or disrupt the reading frame (intra exonic deletion or duplication of a number of nucleotides that is not divisible by 3). (exonskipping.nl)
  • Only mutations at codons 51, P. falciparum . (who.int)
  • A rare missense mutation (Lys650Met) in the tyrosine kinase region of FGFR3 causes a disorder termed severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN). (medscape.com)
  • For instance, the work on molecular clocks, in which the researchers analyzed whether mutations occur earlier or later, could eventually be useful in the earlier diagnosis of cancer or in prevention strategies. (medscape.com)
  • Overall, the group's findings suggest that driver mutations can occur years before cancer is diagnosed, which has implications for early detection and biomarker development," they write. (medscape.com)
  • Driver mutations can occur years before cancer is diagnosed, which has implications for early detection. (medscape.com)
  • They catalogued and assembled a broad and comprehensive portrait of cancer-related mutations in both the coding and the noncoding regions of the genome across 38 major tumor types and applied this information to determine the biologic pathways that are implicated. (medscape.com)
  • About five driver mutations were identified across each cancer genome (5% had no driver mutations). (medscape.com)
  • Most driver mutations were found to be in the coding-region of the genome. (medscape.com)
  • possibility is that the damage is not induces mutations in a mutation integrated viral genome ( Todaro and repaired at al , and when the cell rep- assay permits it to be classified as Huebner, 1972) , and alteration of im- licates, the DNA polymerase correct- mutagenic. (who.int)
  • The VOC differ from the original Wuhan virus as they have mutations across the genome. (who.int)
  • Mutations in other regions of the genome may also be informative for known VOI/VOC detection. (who.int)
  • Overall, these assays and approaches detect specific mutations or features such as insertions, deletions and point mutations in the SARS CoV-2 genome that are characteristic of a particular VOC/VOI using PCR. (who.int)
  • propeller mutations of P. falciparum parasites from west- ern Kenya. (cdc.gov)
  • Analysis of parasites from several Cambo- and P. falciparum DNA was detected by a mitochondrial dian provinces indicated that K13 propeller mutations are DNA-based PCR ( 13 ). (cdc.gov)
  • In an attempt to understand the mechanism behind diabetes remission and relapse, we generated mice expressing the common TNDM mutation SUR1-R1183W. (ox.ac.uk)
  • The investigators analyzed the calvaria and skull base in mice with an achondroplasia-like mutation, as well as in humans with achondroplasia or FGFR3 -related craniosynostoses. (medscape.com)
  • Molecular genetic analysis of an endotoxin nonresponder mutant cell line: a point mutation in a conserved region of MD-2 abolishes endotoxin-induced signaling. (ucdenver.edu)
  • Inhibition studies, kinetic analysis and molecular dynamics were undertaken to understand how this mutation remote from the active center determines the "silent" phenotype. (nebraska.edu)
  • Molecular dynamic simulations revealed the mechanism by which mutation Ala34Val determines the silent phenotype: a chain of intramolecular events leads to disruption of the catalytic triad, so that His438 no longer interacts with Ser198, but instead forms hydrogen bonds either with residues Glu197 and Trp82, or peripheral site residue Tyr332. (nebraska.edu)
  • Here, an OsCIPK7 mutant via TILLING procedure with a point mutation in the kinase domain showed increased chilling tolerance, which could be potentially used in the molecular breeding. (jipb.net)
  • A "molecular clock" can determine which mutations occurred early in the evolution of the cancer. (medscape.com)
  • This is first report of detection of mutation in Gyr A enzyme in S.enterica , that codes for point mutation in the Quinolone Resistant Determining Region( QRDR'S) in Southeast Nigeria. (ajphs.com)
  • A number of tools are available for the detection of mutations that are characteristic of viruses defined as VOI/VOCs. (who.int)
  • This resistance emerges as a result of predicts persistent infection and that SP would mutations on the dihydrofolate reductase ( dhfr ) and select for pfdhfr and pfdhps mutations during a short dihydropteroate synthase ( dhps ) enzyme systems of period of treatment. (who.int)
  • In 2 (10%) of the 20 cases examined, an identical sequence abnormality was detected in E-cadherin exon 7, i.e. a point mutation of codon 315 (AAT to AGT) which resulted in a single ainino acid substitution (asparagine to serine). (elsevier.com)
  • Either way, if the mutation is present in an in-frame exon, such as exon 49 that contains 102 nucleotides (divisible by 3), the mutation can be bypassed by skipping said exon (Figure 1). (exonskipping.nl)
  • This has been confirmed in cultured cells from a patient with a nonsense mutation in exon 49. (exonskipping.nl)
  • If the small mutation is present in an exon that contains a number of nucleotides not divisible by 3 ( e.g. exon 43 contains 173 nucleotides), skipping of the mutated exon will bypass mutation, but cause a disruption of the reading frame at the same time ( i.e. exon 42 and exon 44 do not fit). (exonskipping.nl)
  • Thus by inducing the combined skipping of both exon 43 and exon 44 the mutation can be bypassed, while the reading frame is maintained (Figure 2). (exonskipping.nl)
  • In vitro, the GRIA3(A653T) mutation stabilizes the channel in a closed conformation, in contrast to Lurcher. (ox.ac.uk)
  • Wuhan strain will continue to arise, yet not all viral variants generated through mutation of the virus are important or have immediate public health relevance. (who.int)
  • To date, WHO has designated 4 SARS CoV-2 genotypes that meet the working definition of a VOC: i) contain mutations divergent from the Wuhan strain and ii) that the mutations impact one or more of the aspects of viral infection that have public health significance. (who.int)
  • A mutation caused by the substitution of one nucleotide for another. (bvsalud.org)
  • [ 13 ] About 98% of diagnosed patients have the G1138A mutation, resulting in a G-to-A DNA nucleotide point change. (medscape.com)
  • One percent of cases have a G-to-C DNA point change at nucleotide 1138, causing the G1138C mutation. (medscape.com)
  • Nasopharyngeal (NP) swabs collected at 12 time points over a 95-day span all tested positive for SARS-CoV-2 by reverse transcription polymerase chain reaction (RT-PCR). (bvsalud.org)
  • The PulseNet specimens have no connection other than symbiotic flora, colonization, contamination, or infection by bacteria that at some point years ago were progeny of the same cell. (cdc.gov)
  • Characterization of two novel knock-in mouse models of syndromic retinal ciliopathy carrying hypomorphic Sdccag8 mutations. (jax.org)
  • Then one of those cells mutates through a DNA insertion, deletion, or point mutation, and suddenly a new pattern appears. (cdc.gov)
  • Human rhinovirus, coronavirus NL63 and respiratory syncytial virus B were detected at different time points by RT-PCR. (bvsalud.org)
  • BRCA mutations may also cause increased risk for melanoma and pancreatic and other cancers. (ons.org)
  • However, variants with specific mutations that affect the way the virus behaves are now considered either Variants of Interest (VOI) or Variants of Concern (VOC) with respect to public health implications (1). (who.int)
  • We found that this point mutation of OsCIPK7 led to a conformational change in the activation loop of the kinase domain, subsequently with an increase of protein kinase activity, thus conferred an increased tolerance to chilling stress. (jipb.net)
  • this mutation, JAK2V617F , is found in more cluster area.3 In 2009, Congress funded ATSDR to continue than 90% of persons with PV and in approximately 50% of this investigation. (cdc.gov)
  • A study by Di Rocco et al using murine and human subjects indicated that FGFR3 mutations in achondroplasia also affect membranous ossification. (medscape.com)
  • This corresponds to the human c.696T>G p.Y232X mutation known to cause Bardet-Biedl syndrome. (jax.org)
  • Analysis of any point mutation in DNA. (bvsalud.org)
  • Full blood analysis at time point 9 (day 82) showed leukopenia with lymphocytosis. (bvsalud.org)
  • The role of the GLI3 protein in brain and limb patterning may help explain why mutations lead to brain abnormalities, polydactyly, and the other features of acrocallosal syndrome. (medlineplus.gov)
  • In men, BRCA mutations are associated with increased risk for breast and prostate cancer. (ons.org)
  • Prevalence estimates for BRCA and other mutations associated with increased cancer risk vary, but it's fair to say that up to 10% of female breast cancers (especially early onset) and 20% of ovarian cancers result from hereditary factors. (ons.org)
  • Identifying patients who carry a BRCA mutation is vital to ensure that they are afforded the best treatment or risk-reducing options for breast or ovarian cancer as well as managing risk of other associated cancers. (ons.org)
  • G1138A and G1138C mutations of FGFR3 account for 99% of the mutational changes in patients with achondroplasia. (medscape.com)
  • A mutation is defined as a sing of the DNA damage by the cel by replicating past the unrepaired change in the sequence or number (the DNA damage response), and DNA damage, thereby introducing a of nucleotides in the DNA. (who.int)
  • Patterns of genetic mutations can help determine cancer type (which can help when a clinician is faced with a classification of carcinoma of unknown primary origin). (medscape.com)
  • Genotyping revealed canonical beta-variant E484K and N501Y mutations at earlier time points. (bvsalud.org)
  • Here's what oncology nurses need to know about BRCA mutations, one of the more common mutations you'll see in practice. (ons.org)
  • Women in the general population face about a 12% lifetime risk of developing breast cancer and a 1.5% chance of ovarian cancer, but that risk increases significantly with a BRCA mutation. (ons.org)
  • The risk of contralateral breast cancer in BRCA mutation carriers is two to three times that of women without mutations. (ons.org)
  • In men, up to 40% of breast cancers may be related to BRCA mutations , and men with the mutations are up to seven times more likely to get prostate cancer . (ons.org)
  • Information about a germline mutation is also helpful in informing relatives of their potential increased cancer risk. (ons.org)
  • But let's start with an amazing story which points to the importance of a person with cancer knowing the genetic profile of their tumour. (abc.net.au)
  • Esto da lugar a que en la molécula de ADN haya un cambio en un único par de bases. (bvsalud.org)
  • Other types repair the damage but instead pro- mutagens produce DNA damage, of DNA damage are oxidized or frag- cess it into a mutation, or direct the and they might more appropriately mented bases and the intercalation cell to undergo apoptosis. (who.int)
  • All study participants pro- mutations in the K13 propeller (especially C580Y, R539T, vided informed consent. (cdc.gov)
  • Each variant will have characteristic mutations or a group of mutations that is/are unique to that particular variant. (who.int)
  • For instance, one in 40 people of Ashkenazi Jewish descent carries a BRCA mutation compared to one in 400 in the general population. (ons.org)
  • Based on our findings, we recommend future TNDM mouse models employing a gain-of-function SUR1 mutation should be created using the minimally invasive CRISPR/Cas technology, which avoids many potential pitfalls associated with the Cre/LoxP system. (ox.ac.uk)