Time Factors: Elements of limited time intervals, contributing to particular results or situations.Labor Onset: The beginning of true OBSTETRIC LABOR which is characterized by the cyclic uterine contractions of increasing frequency, duration, and strength causing CERVICAL DILATATION to begin (LABOR STAGE, FIRST ).Age Factors: Age as a constituent element or influence contributing to the production of a result. It may be applicable to the cause or the effect of a circumstance. It is used with human or animal concepts but should be differentiated from AGING, a physiological process, and TIME FACTORS which refers only to the passage of time.Risk Factors: An aspect of personal behavior or lifestyle, environmental exposure, or inborn or inherited characteristic, which, on the basis of epidemiologic evidence, is known to be associated with a health-related condition considered important to prevent.Disease Progression: The worsening of a disease over time. This concept is most often used for chronic and incurable diseases where the stage of the disease is an important determinant of therapy and prognosis.Brain: The part of CENTRAL NERVOUS SYSTEM that is contained within the skull (CRANIUM). Arising from the NEURAL TUBE, the embryonic brain is comprised of three major parts including PROSENCEPHALON (the forebrain); MESENCEPHALON (the midbrain); and RHOMBENCEPHALON (the hindbrain). The developed brain consists of CEREBRUM; CEREBELLUM; and other structures in the BRAIN STEM.Retrospective Studies: Studies used to test etiologic hypotheses in which inferences about an exposure to putative causal factors are derived from data relating to characteristics of persons under study or to events or experiences in their past. The essential feature is that some of the persons under study have the disease or outcome of interest and their characteristics are compared with those of unaffected persons.Electroencephalography: Recording of electric currents developed in the brain by means of electrodes applied to the scalp, to the surface of the brain, or placed within the substance of the brain.Prospective Studies: Observation of a population for a sufficient number of persons over a sufficient number of years to generate incidence or mortality rates subsequent to the selection of the study group.Magnetic Resonance Imaging: Non-invasive method of demonstrating internal anatomy based on the principle that atomic nuclei in a strong magnetic field absorb pulses of radiofrequency energy and emit them as radiowaves which can be reconstructed into computerized images. The concept includes proton spin tomographic techniques.Acute Disease: Disease having a short and relatively severe course.Disease Models, Animal: Naturally occurring or experimentally induced animal diseases with pathological processes sufficiently similar to those of human diseases. They are used as study models for human diseases.Severity of Illness Index: Levels within a diagnostic group which are established by various measurement criteria applied to the seriousness of a patient's disorder.Follow-Up Studies: Studies in which individuals or populations are followed to assess the outcome of exposures, procedures, or effects of a characteristic, e.g., occurrence of disease.Treatment Outcome: Evaluation undertaken to assess the results or consequences of management and procedures used in combating disease in order to determine the efficacy, effectiveness, safety, and practicability of these interventions in individual cases or series.Mutation: 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.Reaction Time: The time from the onset of a stimulus until a response is observed.Diabetes Mellitus, Type 1: A subtype of DIABETES MELLITUS that is characterized by INSULIN deficiency. It is manifested by the sudden onset of severe HYPERGLYCEMIA, rapid progression to DIABETIC KETOACIDOSIS, and DEATH unless treated with insulin. The disease may occur at any age, but is most common in childhood or adolescence.Pedigree: 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.Pregnancy: The status during which female mammals carry their developing young (EMBRYOS or FETUSES) in utero before birth, beginning from FERTILIZATION to BIRTH.Analysis of Variance: A statistical technique that isolates and assesses the contributions of categorical independent variables to variation in the mean of a continuous dependent variable.Case-Control Studies: Studies which start with the identification of persons with a disease of interest and a control (comparison, referent) group without the disease. The relationship of an attribute to the disease is examined by comparing diseased and non-diseased persons with regard to the frequency or levels of the attribute in each group.Cohort Studies: Studies in which subsets of a defined population are identified. These groups may or may not be exposed to factors hypothesized to influence the probability of the occurrence of a particular disease or other outcome. Cohorts are defined populations which, as a whole, are followed in an attempt to determine distinguishing subgroup characteristics.Sexual Maturation: Achievement of full sexual capacity in animals and in humans.Stroke: A group of pathological conditions characterized by sudden, non-convulsive loss of neurological function due to BRAIN ISCHEMIA or INTRACRANIAL HEMORRHAGES. Stroke is classified by the type of tissue NECROSIS, such as the anatomic location, vasculature involved, etiology, age of the affected individual, and hemorrhagic vs. non-hemorrhagic nature. (From Adams et al., Principles of Neurology, 6th ed, pp777-810)Electromyography: Recording of the changes in electric potential of muscle by means of surface or needle electrodes.Brain Ischemia: Localized reduction of blood flow to brain tissue due to arterial obstruction or systemic hypoperfusion. This frequently occurs in conjunction with brain hypoxia (HYPOXIA, BRAIN). Prolonged ischemia is associated with BRAIN INFARCTION.Seizures: Clinical or subclinical disturbances of cortical function due to a sudden, abnormal, excessive, and disorganized discharge of brain cells. Clinical manifestations include abnormal motor, sensory and psychic phenomena. Recurrent seizures are usually referred to as EPILEPSY or "seizure disorder."Genotype: The genetic constitution of the individual, comprising the ALLELES present at each GENETIC LOCUS.Genetic Predisposition to Disease: A latent susceptibility to disease at the genetic level, which may be activated under certain conditions.Neurons: The basic cellular units of nervous tissue. Each neuron consists of a body, an axon, and dendrites. Their purpose is to receive, conduct, and transmit impulses in the NERVOUS SYSTEM.Mice, Inbred C57BLLongitudinal Studies: Studies in which variables relating to an individual or group of individuals are assessed over a period of time.Sex Factors: Maleness or femaleness as a constituent element or influence contributing to the production of a result. It may be applicable to the cause or effect of a circumstance. It is used with human or animal concepts but should be differentiated from SEX CHARACTERISTICS, anatomical or physiological manifestations of sex, and from SEX DISTRIBUTION, the number of males and females in given circumstances.Mice, Transgenic: Laboratory mice that have been produced from a genetically manipulated EGG or EMBRYO, MAMMALIAN.Prognosis: A prediction of the probable outcome of a disease based on a individual's condition and the usual course of the disease as seen in similar situations.Incidence: The number of new cases of a given disease during a given period in a specified population. It also is used for the rate at which new events occur in a defined population. It is differentiated from PREVALENCE, which refers to all cases, new or old, in the population at a given time.Epilepsy: A disorder characterized by recurrent episodes of paroxysmal brain dysfunction due to a sudden, disorderly, and excessive neuronal discharge. Epilepsy classification systems are generally based upon: (1) clinical features of the seizure episodes (e.g., motor seizure), (2) etiology (e.g., post-traumatic), (3) anatomic site of seizure origin (e.g., frontal lobe seizure), (4) tendency to spread to other structures in the brain, and (5) temporal patterns (e.g., nocturnal epilepsy). (From Adams et al., Principles of Neurology, 6th ed, p313)Predictive Value of Tests: In screening and diagnostic tests, the probability that a person with a positive test is a true positive (i.e., has the disease), is referred to as the predictive value of a positive test; whereas, the predictive value of a negative test is the probability that the person with a negative test does not have the disease. Predictive value is related to the sensitivity and specificity of the test.Infant, Newborn: An infant during the first month after birth.Rats, Sprague-Dawley: A strain of albino rat used widely for experimental purposes because of its calmness and ease of handling. It was developed by the Sprague-Dawley Animal Company.Seasons: Divisions of the year according to some regularly recurrent phenomena usually astronomical or climatic. (From McGraw-Hill Dictionary of Scientific and Technical Terms, 6th ed)Photic Stimulation: Investigative technique commonly used during ELECTROENCEPHALOGRAPHY in which a series of bright light flashes or visual patterns are used to elicit brain activity.Syndrome: A characteristic symptom complex.Molecular Sequence Data: 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.Myocardial Infarction: NECROSIS of the MYOCARDIUM caused by an obstruction of the blood supply to the heart (CORONARY CIRCULATION).Circadian Rhythm: The regular recurrence, in cycles of about 24 hours, of biological processes or activities, such as sensitivity to drugs and stimuli, hormone secretion, sleeping, and feeding.Tomography, X-Ray Computed: Tomography using x-ray transmission and a computer algorithm to reconstruct the image.Action Potentials: Abrupt changes in the membrane potential that sweep along the CELL MEMBRANE of excitable cells in response to excitation stimuli.Biological Markers: Measurable and quantifiable biological parameters (e.g., specific enzyme concentration, specific hormone concentration, specific gene phenotype distribution in a population, presence of biological substances) which serve as indices for health- and physiology-related assessments, such as disease risk, psychiatric disorders, environmental exposure and its effects, disease diagnosis, metabolic processes, substance abuse, pregnancy, cell line development, epidemiologic studies, etc.Muscle, Skeletal: A subtype of striated muscle, attached by TENDONS to the SKELETON. Skeletal muscles are innervated and their movement can be consciously controlled. They are also called voluntary muscles.Autoantibodies: Antibodies that react with self-antigens (AUTOANTIGENS) of the organism that produced them.Dose-Response Relationship, Drug: The relationship between the dose of an administered drug and the response of the organism to the drug.Alzheimer Disease: A degenerative disease of the BRAIN characterized by the insidious onset of DEMENTIA. Impairment of MEMORY, judgment, attention span, and problem solving skills are followed by severe APRAXIAS and a global loss of cognitive abilities. The condition primarily occurs after age 60, and is marked pathologically by severe cortical atrophy and the triad of SENILE PLAQUES; NEUROFIBRILLARY TANGLES; and NEUROPIL THREADS. (From Adams et al., Principles of Neurology, 6th ed, pp1049-57)RNA, Messenger: 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.Acoustic Stimulation: Use of sound to elicit a response in the nervous system.Epilepsies, Partial: Conditions characterized by recurrent paroxysmal neuronal discharges which arise from a focal region of the brain. Partial seizures are divided into simple and complex, depending on whether consciousness is unaltered (simple partial seizure) or disturbed (complex partial seizure). Both types may feature a wide variety of motor, sensory, and autonomic symptoms. Partial seizures may be classified by associated clinical features or anatomic location of the seizure focus. A secondary generalized seizure refers to a partial seizure that spreads to involve the brain diffusely. (From Adams et al., Principles of Neurology, 6th ed, pp317)Labor, Obstetric: The repetitive uterine contraction during childbirth which is associated with the progressive dilation of the uterine cervix (CERVIX UTERI). Successful labor results in the expulsion of the FETUS and PLACENTA. Obstetric labor can be spontaneous or induced (LABOR, INDUCED).Models, Biological: 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.Cerebral Hemorrhage: Bleeding into one or both CEREBRAL HEMISPHERES including the BASAL GANGLIA and the CEREBRAL CORTEX. It is often associated with HYPERTENSION and CRANIOCEREBRAL TRAUMA.Electric Stimulation: Use of electric potential or currents to elicit biological responses.Epilepsy, Tonic-Clonic: A generalized seizure disorder characterized by recurrent major motor seizures. The initial brief tonic phase is marked by trunk flexion followed by diffuse extension of the trunk and extremities. The clonic phase features rhythmic flexor contractions of the trunk and limbs, pupillary dilation, elevations of blood pressure and pulse, urinary incontinence, and tongue biting. This is followed by a profound state of depressed consciousness (post-ictal state) which gradually improves over minutes to hours. The disorder may be cryptogenic, familial, or symptomatic (caused by an identified disease process). (From Adams et al., Principles of Neurology, 6th ed, p329)Cells, Cultured: 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.Thrombolytic Therapy: Use of infusions of FIBRINOLYTIC AGENTS to destroy or dissolve thrombi in blood vessels or bypass grafts.Recurrence: The return of a sign, symptom, or disease after a remission.Gene Expression Regulation, Developmental: Any of the processes by which nuclear, cytoplasmic, or intercellular factors influence the differential control of gene action during the developmental stages of an organism.Alleles: Variant forms of the same gene, occupying the same locus on homologous CHROMOSOMES, and governing the variants in production of the same gene product.Immunohistochemistry: Histochemical localization of immunoreactive substances using labeled antibodies as reagents.Electrocardiography: Recording of the moment-to-moment electromotive forces of the HEART as projected onto various sites on the body's surface, delineated as a scalar function of time. The recording is monitored by a tracing on slow moving chart paper or by observing it on a cardioscope, which is a CATHODE RAY TUBE DISPLAY.Mice, Knockout: Strains of mice in which certain GENES of their GENOMES have been disrupted, or "knocked-out". To produce knockouts, using RECOMBINANT DNA technology, the normal DNA sequence of the gene being studied is altered to prevent synthesis of a normal gene product. Cloned cells in which this DNA alteration is successful are then injected into mouse EMBRYOS to produce chimeric mice. The chimeric mice are then bred to yield a strain in which all the cells of the mouse contain the disrupted gene. Knockout mice are used as EXPERIMENTAL ANIMAL MODELS for diseases (DISEASE MODELS, ANIMAL) and to clarify the functions of the genes.Family Health: 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.Parkinson Disease: A progressive, degenerative neurologic disease characterized by a TREMOR that is maximal at rest, retropulsion (i.e. a tendency to fall backwards), rigidity, stooped posture, slowness of voluntary movements, and a masklike facial expression. Pathologic features include loss of melanin containing neurons in the substantia nigra and other pigmented nuclei of the brainstem. LEWY BODIES are present in the substantia nigra and locus coeruleus but may also be found in a related condition (LEWY BODY DISEASE, DIFFUSE) characterized by dementia in combination with varying degrees of parkinsonism. (Adams et al., Principles of Neurology, 6th ed, p1059, pp1067-75)Base Sequence: The sequence of PURINES and PYRIMIDINES in nucleic acids and polynucleotides. It is also called nucleotide sequence.Amyotrophic Lateral Sclerosis: A degenerative disorder affecting upper MOTOR NEURONS in the brain and lower motor neurons in the brain stem and SPINAL CORD. Disease onset is usually after the age of 50 and the process is usually fatal within 3 to 6 years. Clinical manifestations include progressive weakness, atrophy, FASCICULATION, hyperreflexia, DYSARTHRIA, dysphagia, and eventual paralysis of respiratory function. Pathologic features include the replacement of motor neurons with fibrous ASTROCYTES and atrophy of anterior SPINAL NERVE ROOTS and corticospinal tracts. (From Adams et al., Principles of Neurology, 6th ed, pp1089-94)Movement: The act, process, or result of passing from one place or position to another. It differs from LOCOMOTION in that locomotion is restricted to the passing of the whole body from one place to another, while movement encompasses both locomotion but also a change of the position of the whole body or any of its parts. Movement may be used with reference to humans, vertebrate and invertebrate animals, and microorganisms. Differentiate also from MOTOR ACTIVITY, movement associated with behavior.Kinetics: The rate dynamics in chemical or physical systems.Functional Laterality: Behavioral manifestations of cerebral dominance in which there is preferential use and superior functioning of either the left or the right side, as in the preferred use of the right hand or right foot.Prevalence: The total number of cases of a given disease in a specified population at a designated time. It is differentiated from INCIDENCE, which refers to the number of new cases in the population at a given time.Animals, Newborn: Refers to animals in the period of time just after birth.Body Weight: The mass or quantity of heaviness of an individual. It is expressed by units of pounds or kilograms.Anaphase: The phase of cell nucleus division following METAPHASE, in which the CHROMATIDS separate and migrate to opposite poles of the spindle.Early Diagnosis: Methods to determine in patients the nature of a disease or disorder at its early stage of progression. Generally, early diagnosis improves PROGNOSIS and TREATMENT OUTCOME.Psychotic Disorders: Disorders in which there is a loss of ego boundaries or a gross impairment in reality testing with delusions or prominent hallucinations. (From DSM-IV, 1994)DNA Mutational Analysis: Biochemical identification of mutational changes in a nucleotide sequence.Statistics, Nonparametric: A class of statistical methods applicable to a large set of probability distributions used to test for correlation, location, independence, etc. In most nonparametric statistical tests, the original scores or observations are replaced by another variable containing less information. An important class of nonparametric tests employs the ordinal properties of the data. Another class of tests uses information about whether an observation is above or below some fixed value such as the median, and a third class is based on the frequency of the occurrence of runs in the data. (From McGraw-Hill Dictionary of Scientific and Technical Terms, 4th ed, p1284; Corsini, Concise Encyclopedia of Psychology, 1987, p764-5)Double-Blind Method: A method of studying a drug or procedure in which both the subjects and investigators are kept unaware of who is actually getting which specific treatment.Wakefulness: A state in which there is an enhanced potential for sensitivity and an efficient responsiveness to external stimuli.Heterozygote: An individual having different alleles at one or more loci regarding a specific character.Motor Neurons: Neurons which activate MUSCLE CELLS.Estrus: The period in the ESTROUS CYCLE associated with maximum sexual receptivity and fertility in non-primate female mammals.Cerebellar Ataxia: Incoordination of voluntary movements that occur as a manifestation of CEREBELLAR DISEASES. Characteristic features include a tendency for limb movements to overshoot or undershoot a target (dysmetria), a tremor that occurs during attempted movements (intention TREMOR), impaired force and rhythm of diadochokinesis (rapidly alternating movements), and GAIT ATAXIA. (From Adams et al., Principles of Neurology, 6th ed, p90)Evoked Potentials: Electrical responses recorded from nerve, muscle, SENSORY RECEPTOR, or area of the CENTRAL NERVOUS SYSTEM following stimulation. They range from less than a microvolt to several microvolts. The evoked potential can be auditory (EVOKED POTENTIALS, AUDITORY), somatosensory (EVOKED POTENTIALS, SOMATOSENSORY), visual (EVOKED POTENTIALS, VISUAL), or motor (EVOKED POTENTIALS, MOTOR), or other modalities that have been reported.Fatal Outcome: Death resulting from the presence of a disease in an individual, as shown by a single case report or a limited number of patients. This should be differentiated from DEATH, the physiological cessation of life and from MORTALITY, an epidemiological or statistical concept.Tissue Plasminogen Activator: A proteolytic enzyme in the serine protease family found in many tissues which converts PLASMINOGEN to FIBRINOLYSIN. It has fibrin-binding activity and is immunologically different from UROKINASE-TYPE PLASMINOGEN ACTIVATOR. The primary sequence, composed of 527 amino acids, is identical in both the naturally occurring and synthetic proteases.Spinal Cord: A cylindrical column of tissue that lies within the vertebral canal. It is composed of WHITE MATTER and GRAY MATTER.Chronic Disease: Diseases which have one or more of the following characteristics: they are permanent, leave residual disability, are caused by nonreversible pathological alteration, require special training of the patient for rehabilitation, or may be expected to require a long period of supervision, observation, or care. (Dictionary of Health Services Management, 2d ed)Schizophrenia: A severe emotional disorder of psychotic depth characteristically marked by a retreat from reality with delusion formation, HALLUCINATIONS, emotional disharmony, and regressive behavior.Heart Rate: The number of times the HEART VENTRICLES contract per unit of time, usually per minute.Fibrinolytic Agents: Fibrinolysin or agents that convert plasminogen to FIBRINOLYSIN.Cerebral Cortex: The thin layer of GRAY MATTER on the surface of the CEREBRAL HEMISPHERES that develops from the TELENCEPHALON and folds into gyri and sulchi. It reaches its highest development in humans and is responsible for intellectual faculties and higher mental functions.Brain Mapping: Imaging techniques used to colocalize sites of brain functions or physiological activity with brain structures.Neurologic Examination: Assessment of sensory and motor responses and reflexes that is used to determine impairment of the nervous system.Electrophysiology: The study of the generation and behavior of electrical charges in living organisms particularly the nervous system and the effects of electricity on living organisms.Cats: The domestic cat, Felis catus, of the carnivore family FELIDAE, comprising over 30 different breeds. The domestic cat is descended primarily from the wild cat of Africa and extreme southwestern Asia. Though probably present in towns in Palestine as long ago as 7000 years, actual domestication occurred in Egypt about 4000 years ago. (From Walker's Mammals of the World, 6th ed, p801)JapanComorbidity: The presence of co-existing or additional diseases with reference to an initial diagnosis or with reference to the index condition that is the subject of study. Comorbidity may affect the ability of affected individuals to function and also their survival; it may be used as a prognostic indicator for length of hospital stay, cost factors, and outcome or survival.Logistic Models: Statistical models which describe the relationship between a qualitative dependent variable (that is, one which can take only certain discrete values, such as the presence or absence of a disease) and an independent variable. A common application is in epidemiology for estimating an individual's risk (probability of a disease) as a function of a given risk factor.Arthritis, Rheumatoid: A chronic systemic disease, primarily of the joints, marked by inflammatory changes in the synovial membranes and articular structures, widespread fibrinoid degeneration of the collagen fibers in mesenchymal tissues, and by atrophy and rarefaction of bony structures. Etiology is unknown, but autoimmune mechanisms have been implicated.Motor Activity: The physical activity of a human or an animal as a behavioral phenomenon.Mitosis: A type of CELL NUCLEUS division by means of which the two daughter nuclei normally receive identical complements of the number of CHROMOSOMES of the somatic cells of the species.Epilepsy, Temporal Lobe: A localization-related (focal) form of epilepsy characterized by recurrent seizures that arise from foci within the temporal lobe, most commonly from its mesial aspect. A wide variety of psychic phenomena may be associated, including illusions, hallucinations, dyscognitive states, and affective experiences. The majority of complex partial seizures (see EPILEPSY, COMPLEX PARTIAL) originate from the temporal lobes. Temporal lobe seizures may be classified by etiology as cryptogenic, familial, or symptomatic (i.e., related to an identified disease process or lesion). (From Adams et al., Principles of Neurology, 6th ed, p321)Sleep Stages: Periods of sleep manifested by changes in EEG activity and certain behavioral correlates; includes Stage 1: sleep onset, drowsy sleep; Stage 2: light sleep; Stages 3 and 4: delta sleep, light sleep, deep sleep, telencephalic sleep.Neuromuscular Nondepolarizing Agents: Drugs that interrupt transmission at the skeletal neuromuscular junction without causing depolarization of the motor end plate. They prevent acetylcholine from triggering muscle contraction and are used as muscle relaxants during electroshock treatments, in convulsive states, and as anesthesia adjuvants.Atrophy: Decrease in the size of a cell, tissue, organ, or multiple organs, associated with a variety of pathological conditions such as abnormal cellular changes, ischemia, malnutrition, or hormonal changes.Cerebrovascular Disorders: A spectrum of pathological conditions of impaired blood flow in the brain. They can involve vessels (ARTERIES or VEINS) in the CEREBRUM, the CEREBELLUM, and the BRAIN STEM. Major categories include INTRACRANIAL ARTERIOVENOUS MALFORMATIONS; BRAIN ISCHEMIA; CEREBRAL HEMORRHAGE; and others.Regression Analysis: Procedures for finding the mathematical function which best describes the relationship between a dependent variable and one or more independent variables. In linear regression (see LINEAR MODELS) the relationship is constrained to be a straight line and LEAST-SQUARES ANALYSIS is used to determine the best fit. In logistic regression (see LOGISTIC MODELS) the dependent variable is qualitative rather than continuously variable and LIKELIHOOD FUNCTIONS are used to find the best relationship. In multiple regression, the dependent variable is considered to depend on more than a single independent variable.Polymerase Chain Reaction: 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.Rats, Wistar: A strain of albino rat developed at the Wistar Institute that has spread widely at other institutions. This has markedly diluted the original strain.Psychiatric Status Rating Scales: Standardized procedures utilizing rating scales or interview schedules carried out by health personnel for evaluating the degree of mental illness.Questionnaires: Predetermined sets of questions used to collect data - clinical data, social status, occupational group, etc. The term is often applied to a self-completed survey instrument.Anticonvulsants: Drugs used to prevent SEIZURES or reduce their severity.Gene Expression Regulation: 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.Periodicity: The tendency of a phenomenon to recur at regular intervals; in biological systems, the recurrence of certain activities (including hormonal, cellular, neural) may be annual, seasonal, monthly, daily, or more frequently (ultradian).Neuropsychological Tests: Tests designed to assess neurological function associated with certain behaviors. They are used in diagnosing brain dysfunction or damage and central nervous system disorders or injury.Chi-Square Distribution: A distribution in which a variable is distributed like the sum of the squares of any given independent random variable, each of which has a normal distribution with mean of zero and variance of one. The chi-square test is a statistical test based on comparison of a test statistic to a chi-square distribution. The oldest of these tests are used to detect whether two or more population distributions differ from one another.Electrodes, Implanted: Surgically placed electric conductors through which ELECTRIC STIMULATION is delivered to or electrical activity is recorded from a specific point inside the body.Gene Expression: The phenotypic manifestation of a gene or genes by the processes of GENETIC TRANSCRIPTION and GENETIC TRANSLATION.Reverse Transcriptase Polymerase Chain Reaction: 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.Saccades: An abrupt voluntary shift in ocular fixation from one point to another, as occurs in reading.Homozygote: An individual in which both alleles at a given locus are identical.Dogs: The domestic dog, Canis familiaris, comprising about 400 breeds, of the carnivore family CANIDAE. They are worldwide in distribution and live in association with people. (Walker's Mammals of the World, 5th ed, p1065)Ataxia: Impairment of the ability to perform smoothly coordinated voluntary movements. This condition may affect the limbs, trunk, eyes, pharynx, larynx, and other structures. Ataxia may result from impaired sensory or motor function. Sensory ataxia may result from posterior column injury or PERIPHERAL NERVE DISEASES. Motor ataxia may be associated with CEREBELLAR DISEASES; CEREBRAL CORTEX diseases; THALAMIC DISEASES; BASAL GANGLIA DISEASES; injury to the RED NUCLEUS; and other conditions.Sensitivity and Specificity: Binary classification measures to assess test results. Sensitivity or recall rate is the proportion of true positives. Specificity is the probability of correctly determining the absence of a condition. (From Last, Dictionary of Epidemiology, 2d ed)Evoked Potentials, Auditory: The electric response evoked in the CEREBRAL CORTEX by ACOUSTIC STIMULATION or stimulation of the AUDITORY PATHWAYS.Reference Values: The range or frequency distribution of a measurement in a population (of organisms, organs or things) that has not been selected for the presence of disease or abnormality.Sleep Initiation and Maintenance Disorders: Disorders characterized by impairment of the ability to initiate or maintain sleep. This may occur as a primary disorder or in association with another medical or psychiatric condition.Regression (Psychology): A return to earlier, especially to infantile, patterns of thought or behavior, or stage of functioning, e.g., feelings of helplessness and dependency in a patient with a serious physical illness. (From APA, Thesaurus of Psychological Index Terms, 1994).Psychomotor Performance: The coordination of a sensory or ideational (cognitive) process and a motor activity.Genes, Dominant: Genes that influence the PHENOTYPE both in the homozygous and the heterozygous state.Apoptosis: One of the mechanisms by which CELL DEATH occurs (compare with NECROSIS and AUTOPHAGOCYTOSIS). Apoptosis is the mechanism responsible for the physiological deletion of cells and appears to be intrinsically programmed. It is characterized by distinctive morphologic changes in the nucleus and cytoplasm, chromatin cleavage at regularly spaced sites, and the endonucleolytic cleavage of genomic DNA; (DNA FRAGMENTATION); at internucleosomal sites. This mode of cell death serves as a balance to mitosis in regulating the size of animal tissues and in mediating pathologic processes associated with tumor growth.Arthritis, Juvenile: Arthritis of children, with onset before 16 years of age. The terms juvenile rheumatoid arthritis (JRA) and juvenile idiopathic arthritis (JIA) refer to classification systems for chronic arthritis in children. Only one subtype of juvenile arthritis (polyarticular-onset, rheumatoid factor-positive) clinically resembles adult rheumatoid arthritis and is considered its childhood equivalent.Amino Acid Sequence: 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.Puberty, Precocious: Development of SEXUAL MATURATION in boys and girls at a chronological age that is 2.5 standard deviations below the mean age at onset of PUBERTY in the population. This early maturation of the hypothalamic-pituitary-gonadal axis results in sexual precocity, elevated serum levels of GONADOTROPINS and GONADAL STEROID HORMONES such as ESTRADIOL and TESTOSTERONE.Evoked Potentials, Visual: The electric response evoked in the cerebral cortex by visual stimulation or stimulation of the visual pathways.Autoimmune Diseases: Disorders that are characterized by the production of antibodies that react with host tissues or immune effector cells that are autoreactive to endogenous peptides.Remission, Spontaneous: A spontaneous diminution or abatement of a disease over time, without formal treatment.Transcription Factors: Endogenous substances, usually proteins, which are effective in the initiation, stimulation, or termination of the genetic transcription process.Melatonin: A biogenic amine that is found in animals and plants. In mammals, melatonin is produced by the PINEAL GLAND. Its secretion increases in darkness and decreases during exposure to light. Melatonin is implicated in the regulation of SLEEP, mood, and REPRODUCTION. Melatonin is also an effective antioxidant.Arthritis, Experimental: ARTHRITIS that is induced in experimental animals. Immunological methods and infectious agents can be used to develop experimental arthritis models. These methods include injections of stimulators of the immune response, such as an adjuvant (ADJUVANTS, IMMUNOLOGIC) or COLLAGEN.Muscle Contraction: A process leading to shortening and/or development of tension in muscle tissue. Muscle contraction occurs by a sliding filament mechanism whereby actin filaments slide inward among the myosin filaments.ArthritisNuclear Proteins: 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.Auditory Perception: The process whereby auditory stimuli are selected, organized, and interpreted by the organism.Cross-Sectional Studies: Studies in which the presence or absence of disease or other health-related variables are determined in each member of the study population or in a representative sample at one particular time. This contrasts with LONGITUDINAL STUDIES which are followed over a period of time.United StatesMacaca mulatta: A species of the genus MACACA inhabiting India, China, and other parts of Asia. The species is used extensively in biomedical research and adapts very well to living with humans.Odds Ratio: The ratio of two odds. The exposure-odds ratio for case control data is the ratio of the odds in favor of exposure among cases to the odds in favor of exposure among noncases. The disease-odds ratio for a cohort or cross section is the ratio of the odds in favor of disease among the exposed to the odds in favor of disease among the unexposed. The prevalence-odds ratio refers to an odds ratio derived cross-sectionally from studies of prevalent cases.Disease Outbreaks: Sudden increase in the incidence of a disease. The concept includes EPIDEMICS and PANDEMICS.Luteinizing Hormone: A major gonadotropin secreted by the adenohypophysis (PITUITARY GLAND, ANTERIOR). Luteinizing hormone regulates steroid production by the interstitial cells of the TESTIS and the OVARY. The preovulatory LUTEINIZING HORMONE surge in females induces OVULATION, and subsequent LUTEINIZATION of the follicle. LUTEINIZING HORMONE consists of two noncovalently linked subunits, alpha and beta. Within a species, the alpha subunit is common in the three pituitary glycoprotein hormones (TSH, LH and FSH), but the beta subunit is unique and confers its biological specificity.Risk Assessment: The qualitative or quantitative estimation of the likelihood of adverse effects that may result from exposure to specified health hazards or from the absence of beneficial influences. (Last, Dictionary of Epidemiology, 1988)Nerve Tissue ProteinsPuberty, Delayed: The lack of development of SEXUAL MATURATION in boys and girls at a chronological age that is 2.5 standard deviations above the mean age at onset of PUBERTY in a population. Delayed puberty can be classified by defects in the hypothalamic LHRH pulse generator, the PITUITARY GLAND, or the GONADS. These patients will undergo spontaneous but delayed puberty whereas patients with SEXUAL INFANTILISM will not.Still's Disease, Adult-Onset: Systemic-onset rheumatoid arthritis in adults. It differs from classical rheumatoid arthritis in that it is more often marked by acute febrile onset, and generalized lymphadenopathy and hepatosplenomegaly are more prominent.Polymorphism, Genetic: 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.Diabetes Mellitus, Type 2: A subclass of DIABETES MELLITUS that is not INSULIN-responsive or dependent (NIDDM). It is characterized initially by INSULIN RESISTANCE and HYPERINSULINEMIA; and eventually by GLUCOSE INTOLERANCE; HYPERGLYCEMIA; and overt diabetes. Type II diabetes mellitus is no longer considered a disease exclusively found in adults. Patients seldom develop KETOSIS but often exhibit OBESITY.Immunoglobulin G: The major immunoglobulin isotype class in normal human serum. There are several isotype subclasses of IgG, for example, IgG1, IgG2A, and IgG2B.Genetic Linkage: The co-inheritance of two or more non-allelic GENES due to their being located more or less closely on the same CHROMOSOME.Cell Line: Established cell cultures that have the potential to propagate indefinitely.Joints: Also known as articulations, these are points of connection between the ends of certain separate bones, or where the borders of other bones are juxtaposed.Multivariate Analysis: A set of techniques used when variation in several variables has to be studied simultaneously. In statistics, multivariate analysis is interpreted as any analytic method that allows simultaneous study of two or more dependent variables.Androstanols: Androstanes and androstane derivatives which are substituted in any position with one or more hydroxyl groups.Life Change Events: Those occurrences, including social, psychological, and environmental, which require an adjustment or effect a change in an individual's pattern of living.Risk: The probability that an event will occur. It encompasses a variety of measures of the probability of a generally unfavorable outcome.Visual Perception: The selecting and organizing of visual stimuli based on the individual's past experience.Sheep: Any of the ruminant mammals with curved horns in the genus Ovis, family Bovidae. They possess lachrymal grooves and interdigital glands, which are absent in GOATS.Diagnostic and Statistical Manual of Mental Disorders: Categorical classification of MENTAL DISORDERS based on criteria sets with defining features. It is produced by the American Psychiatric Association. (DSM-IV, page xxii)Depressive Disorder, Major: Marked depression appearing in the involution period and characterized by hallucinations, delusions, paranoia, and agitation.Behavior, Animal: The observable response an animal makes to any situation.In Situ Hybridization: A technique that localizes specific nucleic acid sequences within intact chromosomes, eukaryotic cells, or bacterial cells through the use of specific nucleic acid-labeled probes.Attention: Focusing on certain aspects of current experience to the exclusion of others. It is the act of heeding or taking notice or concentrating.Polymorphism, Single Nucleotide: A single nucleotide variation in a genetic sequence that occurs at appreciable frequency in the population.Image Processing, Computer-Assisted: A technique of inputting two-dimensional images into a computer and then enhancing or analyzing the imagery into a form that is more useful to the human observer.Electrooculography: Recording of the average amplitude of the resting potential arising between the cornea and the retina in light and dark adaptation as the eyes turn a standard distance to the right and the left. The increase in potential with light adaptation is used to evaluate the condition of the retinal pigment epithelium.Cell Cycle Proteins: Proteins that control the CELL DIVISION CYCLE. This family of proteins includes a wide variety of classes, including CYCLIN-DEPENDENT KINASES, mitogen-activated kinases, CYCLINS, and PHOSPHOPROTEIN PHOSPHATASES as well as their putative substrates such as chromatin-associated proteins, CYTOSKELETAL PROTEINS, and TRANSCRIPTION FACTORS.Polysomnography: Simultaneous and continuous monitoring of several parameters during sleep to study normal and abnormal sleep. The study includes monitoring of brain waves, to assess sleep stages, and other physiological variables such as breathing, eye movements, and blood oxygen levels which exhibit a disrupted pattern with sleep disturbances.Cognition Disorders: Disturbances in mental processes related to learning, thinking, reasoning, and judgment.Progesterone: The major progestational steroid that is secreted primarily by the CORPUS LUTEUM and the PLACENTA. Progesterone acts on the UTERUS, the MAMMARY GLANDS and the BRAIN. It is required in EMBRYO IMPLANTATION; PREGNANCY maintenance, and the development of mammary tissue for MILK production. Progesterone, converted from PREGNENOLONE, also serves as an intermediate in the biosynthesis of GONADAL STEROID HORMONES and adrenal CORTICOSTEROIDS.Oxygen: An element with atomic symbol O, atomic number 8, and atomic weight [15.99903; 15.99977]. It is the most abundant element on earth and essential for respiration.Family: A social group consisting of parents or parent substitutes and children.Light: That portion of the electromagnetic spectrum in the visible, ultraviolet, and infrared range.Cues: Signals for an action; that specific portion of a perceptual field or pattern of stimuli to which a subject has learned to respond.Creatine Kinase: A transferase that catalyzes formation of PHOSPHOCREATINE from ATP + CREATINE. The reaction stores ATP energy as phosphocreatine. Three cytoplasmic ISOENZYMES have been identified in human tissues: the MM type from SKELETAL MUSCLE, the MB type from myocardial tissue and the BB type from nervous tissue as well as a mitochondrial isoenzyme. Macro-creatine kinase refers to creatine kinase complexed with other serum proteins.Trinucleotide Repeats: Microsatellite repeats consisting of three nucleotides dispersed in the euchromatic arms of chromosomes.Neuromuscular Blockade: The intentional interruption of transmission at the NEUROMUSCULAR JUNCTION by external agents, usually neuromuscular blocking agents. It is distinguished from NERVE BLOCK in which nerve conduction (NEURAL CONDUCTION) is interrupted rather than neuromuscular transmission. Neuromuscular blockade is commonly used to produce MUSCLE RELAXATION as an adjunct to anesthesia during surgery and other medical procedures. It is also often used as an experimental manipulation in basic research. It is not strictly speaking anesthesia but is grouped here with anesthetic techniques. The failure of neuromuscular transmission as a result of pathological processes is not included here.Signal Processing, Computer-Assisted: Computer-assisted processing of electric, ultrasonic, or electronic signals to interpret function and activity.Body Temperature: The measure of the level of heat of a human or animal.Gene Frequency: The proportion of one particular in the total of all ALLELES for one genetic locus in a breeding POPULATION.Magnetoencephalography: The measurement of magnetic fields over the head generated by electric currents in the brain. As in any electrical conductor, electric fields in the brain are accompanied by orthogonal magnetic fields. The measurement of these fields provides information about the localization of brain activity which is complementary to that provided by ELECTROENCEPHALOGRAPHY. Magnetoencephalography may be used alone or together with electroencephalography, for measurement of spontaneous or evoked activity, and for research or clinical purposes.Spinocerebellar Degenerations: A heterogenous group of degenerative syndromes marked by progressive cerebellar dysfunction either in isolation or combined with other neurologic manifestations. Sporadic and inherited subtypes occur. Inheritance patterns include autosomal dominant, autosomal recessive, and X-linked.Adaptation, Physiological: The non-genetic biological changes of an organism in response to challenges in its ENVIRONMENT.Calcium: A basic element found in nearly all organized tissues. It is a member of the alkaline earth family of metals with the atomic symbol Ca, atomic number 20, and atomic weight 40. Calcium is the most abundant mineral in the body and combines with phosphorus to form calcium phosphate in the bones and teeth. It is essential for the normal functioning of nerves and muscles and plays a role in blood coagulation (as factor IV) and in many enzymatic processes.

Cardiovascular disease in insulin dependent diabetes mellitus: similar rates but different risk factors in the US compared with Europe. (1/5966)

BACKGROUND: Cardiovascular disease (CVD) in insulin dependent diabetes mellitus (IDDM) has been linked to renal disease. However, little is known concerning international variation in the correlations with hyperglycaemia and standard CVD risk factors. METHODS: A cross-sectional comparison was made of prevalence rates and risk factor associations in two large studies of IDDM subjects: the Pittsburgh Epidemiology of Diabetes Complications Study (EDC) and the EURODIAB IDDM Complications Study from 31 centres in Europe. Subgroups of each were chosen to be comparable by age and duration of diabetes. The EDC population comprises 286 men (mean duration 20.1 years) and 281 women (mean duration 19.9 years); EURODIAB 608 men (mean duration 18.1 years) and 607 women (mean duration 18.9 years). The mean age of both populations was 28 years. Cardiovascular disease was defined by a past medical history of myocardial infarction, angina, and/or the Minnesota ECG codes (1.1-1.3, 4.1-4.3, 5.1-5.3, 7.1). RESULTS: Overall prevalence of CVD was similar in the two populations (i.e. men 8.6% versus 8.0%, women 7.4% versus 8.5%, EURODIAB versus EDC respectively), although EDC women had a higher prevalence of angina (3.9% versus 0.5%, P < 0.001). Multivariate modelling suggests that glycaemic control (HbA1c) is not related to CVD in men. Age and high density lipoprotein cholesterol predict CVD in EURODIAB, while triglycerides and hypertension predict CVD in EDC. For women in both populations, age and hypertension (or renal disease) are independent predictors. HbA1c is also an independent predictor-inversely in EURODIAB women (P < 0.008) and positively in EDC women (P = 0.03). Renal disease was more strongly linked to CVD in EDC than in EURODIAB. CONCLUSIONS: Despite a similar prevalence of CVD, risk factor associations appear to differ in the two study populations. Glycaemic control (HbA1c) does not show a consistent or strong relationship to CVD.  (+info)

Hereditary juvenile haemochromatosis: a genetically heterogeneous life-threatening iron-storage disease. (2/5966)

Juvenile haemochromatosis is a rare inborn error of iron metabolism with clinical manifestations before 30 years of age. Unlike adult haemochromatosis which principally affects men, juvenile haemochromatosis affects the sexes equally; it causes early endocrine failure, dilated cardiomyopathy and joint disease. We report four patients (two of each sex) from three pedigrees affected by juvenile haemochromatosis with a mean onset at 22 years (range 14-30). All had endocrine deficiency with postpubertal gonadal failure secondary to pituitary disease; two suffered near-fatal cardiomyopathy with heart failure. Mean time to diagnosis from the first clinical signs of disease was 9.8 years (range 0.5-20) but general health and parameters of iron storage responded favourably to iron-depletion therapy. A 24-year-old man listed for heart transplantation because of cardiomyopathy [left ventricular (LV) ejection fraction 16%] responded to intravenous iron chelation with desferrioxamine combined with phlebotomy (ejection fraction 31%). A 27-year-old woman with subacute biventricular heart failure refractory to medication required orthotopic cardiac transplantation before the diagnosis was established (LV ejection fraction 25%). Genetic studies showed that these two patients with cardiomyopathy from unrelated families were heterozygous for the HFE 845G-->A (C282Y) mutation and wild-type at the H63D locus: complete sequencing of the intron-exon boundaries and entire coding sequence of the HFE gene failed to identify additional lesions. Two siblings in a pedigree without cardiomyopathy were wild-type at the HFE C282Y locus; although the brother harboured a single copy of the 187C-->G (H63D) allele, segregation analysis showed that in neither sibling was the iron-storage disease linked to MHC Class I markers on chromosome 6p. Juvenile haemochromatosis is thus a genetically heterogenous disorder distinct from the common adult variant.  (+info)

Constitutional genetic variation at the human aromatase gene (Cyp19) and breast cancer risk. (3/5966)

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

Cancer risk in close relatives of women with early-onset breast cancer--a population-based incidence study. (4/5966)

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

Age of onset in Huntington disease: sex specific influence of apolipoprotein E genotype and normal CAG repeat length. (5/5966)

Age of onset (AO) of Huntington disease (HD) is known to be correlated with the length of an expanded CAG repeat in the HD gene. Apolipoprotein E (APOE) genotype, in turn, is known to influence AO in Alzheimer disease, rendering the APOE gene a likely candidate to affect AO in other neurological diseases too. We therefore determined APOE genotype and normal CAG repeat length in the HD gene for 138 HD patients who were previously analysed with respect to CAG repeat length. Genotyping for APOE was performed blind to clinical information. In addition to highlighting the effect of the normal repeat length upon AO in maternally inherited HD and in male patients, we show that the APOE epsilon2epsilon3 genotype is associated with significantly earlier AO in males than in females. Such a sex difference in AO was not apparent for any of the other APOE genotypes. Our findings suggest that subtle differences in the course of the neurodegeneration in HD may allow interacting genes to exert gender specific effects upon AO.  (+info)

Multipoint oligogenic analysis of age-at-onset data with applications to Alzheimer disease pedigrees. (6/5966)

It is usually difficult to localize genes that cause diseases with late ages at onset. These diseases frequently exhibit complex modes of inheritance, and only recent generations are available to be genotyped and phenotyped. In this situation, multipoint analysis using traditional exact linkage analysis methods, with many markers and full pedigree information, is a computationally intractable problem. Fortunately, Monte Carlo Markov chain sampling provides a tool to address this issue. By treating age at onset as a right-censored quantitative trait, we expand the methods used by Heath (1997) and illustrate them using an Alzheimer disease (AD) data set. This approach estimates the number, sizes, allele frequencies, and positions of quantitative trait loci (QTLs). In this simultaneous multipoint linkage and segregation analysis method, the QTLs are assumed to be diallelic and to interact additively. In the AD data set, we were able to localize correctly, quickly, and accurately two known genes, despite the existence of substantial genetic heterogeneity, thus demonstrating the great promise of these methods for the dissection of late-onset oligogenic diseases.  (+info)

Analysis of affected sib pairs, with covariates--with and without constraints. (7/5966)

Covariate models have previously been developed as an extension to affected-sib-pair methods in which the covariate effects are jointly estimated with the degree of excess allele sharing. These models can estimate the differences in sib-pair allele sharing that are associated with measurable environment or genes. When there are no covariates, the pattern of identical-by-descent allele sharing in affected sib pairs is expected to fall within a small triangular region of the potential parameter space, under most genetic models. By restriction of the estimated allele sharing to this triangle, improved power is obtained in tests for genetic linkage. When the affected-sib-pair model is generalized to allow for covariates that affect allele sharing, however, new constraints and new methods for the application of constraints are required. Three generalized constraint methods are proposed and evaluated by use of simulated data. The results compare the power of the different methods, with and without covariates, for a single-gene model with age-dependent onset and for quantitative and qualitative gene-environment and gene-gene interaction models. Covariates can improve the power to detect linkage and can be particularly valuable when there are qualitative gene-environment interactions. In most situations, the best strategy is to assume that there is no dominance variance and to obtain constrained estimates for covariate models under this assumption.  (+info)

Identification of a C/G polymorphism in the promoter region of the BRCA1 gene and its use as a marker for rapid detection of promoter deletions. (8/5966)

Reduced expression of BRCA1 has been implicated in sporadic breast cancer, although the mechanisms underlying this phenomenon remain unclear. To determine whether regulatory mutations could account for the reduced expression, we screened the promoter region by sequencing in 20 patients with sporadic disease. No mutations were detected; however, a new polymorphism consisting of a C-to-G base change within the beta-promoter was identified, with the frequency of the G allele being 0.34. Close to complete linkage disequilibrium was found between this marker and the Pro871 Leu polymorphism, situated in exon 11, which has previously been shown not to be associated with breast or ovarian cancer. This indicates that the C/G polymorphism is also unlikely to play a role in either disease. However, the strength of linkage disequilibrium between these markers permitted their use for rapid screening for genomic deletions within BRCA1. A series of 214 cases with familial breast cancer were analysed using this approach; 88/214 were heterozygous for the promoter polymorphism, thereby excluding a deletion in this region. Among the remaining patients, one hemizygous case reflecting a promoter deletion was successfully identified. Therefore, this study indicates that deletions within the beta-promoter region of BRCA1 are an uncommon event in familial breast cancer. Furthermore, it suggests that mutations within the BRCA1 promoter are unlikely to account for the reported decreased expression of BRCA1 in sporadic disease.  (+info)

TY - JOUR. T1 - Multivariate logistic regression for familial aggregation in age at disease onset. AU - Matthews, Abigail G.. AU - Finkelstein, Dianne M.. AU - Betensky, Rebecca. PY - 2007/6/1. Y1 - 2007/6/1. N2 - Familial aggregation studies seek to identify diseases that cluster in families. These studies are often carried out as a first step in the search for hereditary factors affecting the risk of disease. It is necessary to account for age at disease onset to avoid potential misclassification of family members who are disease-free at the time of study participation or who die before developing disease. This is especially true for late-onset diseases, such as prostate cancer or Alzheimers disease. We propose a discrete time model that accounts for the age at disease onset and allows the familial association to vary with age and to be modified by covariates, such as pedigree relationship. The parameters of the model have interpretations as conditional log-odds and log-odds ratios, which can ...
Multiple sclerosis (MS) involves immune attacks on the CNS, leading to demyelination, axonal injury and increasing neurological dysfunction. Though T cells are implicated, the particular subsets and their antigenic targets remain unknown. In adult-onset MS, distinguishing immune responses that are consequences of, rather than cause of, injury, is difficult. In contrast, pediatric-onset MS offers an early window into disease mechanisms given the narrower gap from biological onset. We aim to identify and characterize disease-relevant antigen-specific effector T cell responses to traditional and novel antigenic targets involved early in the MS disease process.. Our group has implicated target antigens and T cell subsets in pediatric-onset MS, by following patients from time of an initial presentation with acquired demyelinating syndrome and comparing those confirmed to have MS with those who remain monophasic. A CSF proteomic study implicated novel axo-glial apparatus molecules as early injury ...
Alexion Pharmaceuticals, Inc. (NASDAQ: ALXN) today announced that it has reached a national funding agreement with the National Institute for Health and Care Excellence (NICE) and the National Health Service (NHS) England based on a Managed Access Agreement (MAA), which provides access to Strensiq® (asfotase alfa) for patients in England with pediatric-onset hypophosphatasia (HPP), regardless of their current age. The funding agreement was announced today in a positive final evaluation determination (FED) issued by the NICE Highly Specialised Technologies (HST) Evaluation Committee to recommend Strensiq according to the MAA. The MAA has been developed in collaboration between physician thought-leaders, patient groups, NHS England, and Alexion. The MAA ensures access to Strensiq for infants, children and adult patients with pediatric-onset HPP who experience the most disabling symptoms and are expected to benefit most from therapy.
Cancer is in essence a genetic disease, brought about by an accumulation of alterations in genes that encode proteins responsible for the control of cell growth, cell death and the maintenance of genomic integrity. Recent years have seen the unravelling of numerous genes that are targeted in carcinogenesis. Although several genes implicated in breast cancer have been identified, a substantial proportion of breast cancer cases is not linked to any definite gene, implying that more gene targets remain to be discovered. Based on clinicopathological differences observed between early and late onset breast cancers, it has been proposed that they may be biologically different with separate genetic origins and/or development. The work included in this thesis was initiated with the intent to identify some of the genetic aberrations that characterise early onset breast cancer.. The p53 protein is central in cell cycle control and alterations in its gene sequence are among the most commonly observed ...
Abstract Background Cyclic Vomiting Syndrome (CVS) is a well-recognized functional gastrointestinal disorder in children but its presentation is poorly understood in adults. Genetic differences in pediatric-onset (presentation before age 18) and adult-onset CVS have been reported recently but their clinical features and possible differences in response to therapy have not been well studied. Methods This was a retrospective review of 101 CVS patients seen at the Medical College of Wisconsin between 2006 and 2008. Rome III criteria were utilized to make the diagnosis of CVS. Results Our study population comprised of 29(29%) pediatric-onset and 72 (71%) adult-onset CVS patients. Pediatric-onset CVS patients were more likely to be female (86% vs. 57%, p = 0.005) and had a higher prevalence of CVS plus (CVS + neurocognitive disorders) as compared to adult-onset CVS patients (14% vs. 3%, p = 0.05). There was a longer delay in diagnosis (10 ± 7 years) in the pediatric-onset group when compared to (5 ± 7
The salient findings of our study are that both adult- and pediatric-onset CVS patients have a similar demographic profile and disease characteristics except that pediatric-onset patients were more likely to be female and had a higher prevalence of CVS-plus with concomitant neurological disorders. This finding may be explained by the genetic differences that have been elucidated in previous studies [2, 10, 11]. The pediatric-onset group also had a lower incidence of tobacco and opiate use and a significantly longer delay in diagnosis of CVS. This longer delay in diagnosis is an unexpected finding given that CVS is fairly well-recognized condition in children. It should be noted that though our center attracts both children and adults with CVS, the majority of the patients with pediatric-onset CVS were not transitioned from the Childrens Hospital of Wisconsin, which is also a tertiary center for pediatric CVS. Dysautonomia was diagnosed in 64 % of our CVS patients which we recently reported to ...
Montague CT, Farooqi IS, Whitehead JP, et al. Congenital leptin deficiency is associated with severe early-onset obesity in humans. Nature 1997; 387 903-8
Investigating genetic and environmental influences on age at onset of alcohol use and the latency from first use to regular use in the Colorado adolescent twin sample Journal Article ...
Pulmonary arterial hypertension is a rare disease with high mortality despite recent therapeutic advances. The disease is caused by both genetic and environmental factors, and likely gene x environment interactions. While PAH can manifest across the lifespan, pediatric-onset disease is particularly challenging because it is frequently associated with a more severe clinical course and comorbidities including lung/heart developmental anomalies. In light of these differences, it is perhaps not surprising that emerging data from genetic studies of pediatric-onset PAH indicate that the genetic basis is different than that of adults. There is a greater genetic burden in children, with rare genetic factors contributing to at least 36% of pediatric-onset idiopathic PAH (IPAH) compared to ~11% of adult-onset IPAH. De novo variants are frequently associated with PAH in children, and contribute to at least 15% of all pediatric cases. The standard of medical care for pediatric PAH patients is based on
Introduction In an attempt to have more accurate information on the epidemiology of psychiatric disorders in different cultures, the WHO launched the World Mental Health (WMH) Surveys Initiative,1 with over 30 participating countries, using an extended and expanded version of the WHO-Composite International Diagnostic Interview (WMH-CIDI),2 based on diagnostic criteria from the International Classification of Diseases and Injuries 10th Revision (ICD-10)3 and the Diagnostic and Statistical Manual of Mental Disorders 4th edition (DSMIV).4 This manuscript is based on the São Paulo Megacity Mental Health Survey (SPMHS),5 carried out in conjunction with the WMH Surveys Initiative,5 which assessed the general population living in the São Paulo Metropolitan Area (SPMA). So far, few population-based surveys assessing psychiatric morbidity in the community have been conducted in Brazil. In the early 90s, the Brazilian Multicentric Study of Psychiatric Morbidity was carried out in three cities, using ...
Our aim was to characterize and validate that the location and age of onset of the tumor are both important criteria to classify colorectal cancer (CRC). We analyzed clinical and molecular characteristics of early-onset CRC (EOCRC) and late-onset CRC (LOCRC), and we compared each tumor location between both ages-of-onset. In right-sided colon tumors, early-onset cases showed extensive Lynch syndrome (LS) features, with a relatively low frequency of chromosomal instability (CIN), but a high CpG island methylation phenotype. Nevertheless, late-onset cases showed predominantly sporadic features and microsatellite instability cases due to BRAF mutations. In left colon cancers, the most reliable clinical features were the tendency to develop polyps as well as multiple primary CRC associated with the late-onset subset. Apart from the higher degree of CIN in left-sided early-onset cancers, differential copy number alterations were also observed. Differences among rectal cancers showed that early-onset ...
Results: The cohort consisted of 27,918 NARCOMS enrollees, 72.7% of whom were female and 90.1% of whom were white. Mean age at symptom onset was 30.1 ± 10.1 years, and age at enrollment was 47.1 ± 11.0 years. The Disability Expectancy Table and P-MSSS afford a detailed overview of disability outcomes in a large MS cohort over a 45-year period. In the first year of disease, 15% of patients reported need of ambulatory aid, and 4% needed bilateral assistance or worse; after 45 years of disease, 76% of patients required ambulatory aid, and 52% bilateral assistance or worse. Proportion of patients who reported minimal or no interference in daily activities (PDDS ≤ 1) declined from 63% in the first year to 8% after 45 years of disease. ...
We have identified a novel truncating mutation in PALB2. The mutation was found in approximately 0.5% of unselected French-Canadian women with early-onset breast cancer and appears to have a single origin. Although mutations are infrequent, PALB2 can be added to the list of breast cancer susceptibil …
A new study led by scientists at the University of Southampton has found that inherited variation in a particular gene may be to blame for the lower survival rate of patients diagnosed with early-onset breast cancer.
In a population-based cohort study, adults with young-onset diabetes (YOD) experienced excess hospitalizations across their lifespan compared with those with usual-onset type 2 diabetes (T2D), including a large burden of mental illness in young adulthood. Adults aged 20-75 years in population-based (2002 to 2014; n=422,908) and registry-based (200 to 2014; n=20,886) T2D cohorts were included.
In a population-based cohort study, adults with young-onset diabetes (YOD) experienced excess hospitalizations across their lifespan compared with those with usual-onset type 2 diabetes (T2D), including a large burden of mental illness in young adulthood. Adults aged 20-75 years in population-based (2002 to 2014; n=422,908) and registry-based (200 to 2014; n=20,886) T2D cohorts were included.
Fifty-six-year-old Earl was diagnosed with young-onset Alzheimers disease three years ago, though he thinks hes been living with it for much longer.
WEDNESDAY, Feb. 5, 2020 (HealthDay News) -- People who develop Parkinsons disease at a younger age (before age 50) may have malfunctioning brain cells at birth, according to a study that also identified a drug that may help these patients.. At least 500,000 people in the United States are diagnosed with Parkinsons each year. Most are 60 or older at diagnosis, but about 10% are between 21 and 50. Parkinsons is a neurological disease that occurs when brain neurons that make dopamine become impaired or die. Dopamine helps coordinate muscle movement.. Symptoms get worse over time and include slow gait, rigidity, tremors and loss of balance. There is currently no cure.. "Young-onset Parkinsons is especially heartbreaking because it strikes people at the prime of life," said study co-author Dr. Michele Tagliati, director of the Movement Disorders Program at Cedars-Sinai Medical Center in Los Angeles.. "This exciting new research provides hope that one day we may be able to detect and take early ...
In a population-based cohort study, researchers have found that Young-onset diabetes, which is defined as onset before age 40, is associated with a higher risk of being hospitalized for mental...
Compared to the childhood-onset sort, less impairment in several cognitive and psychological capabilities are present, plus the adolescent-onset variety could remit by adulthood.[eighteen] In addition to this differentiation, the DSM-5 supplies a specifier for just a callous and unemotional interpersonal design, which demonstrates properties observed in psychopathy and so are thought being a childhood precursor to this disorder. As compared to the adolescent-onset subtype, the childhood onset subtype, especially if callous and unemotional attributes are existing, tend to possess a even worse treatment final result.[19 ...
A 1964 random community survey in Aberdeen of 2511 children aged 10-14 years identified 121 children with asthma and 167 with wheeze with infection. The outcome at age 34-40 years of these children with wheeze, together with that of 167 children selected from those who were asymptomatic, has been described.1 In 1995 we tried to contact the 2056 individuals (now aged 39-45 years) who had had no childhood wheezing; 1799 subjects were traced. We posted questionnaires about symptoms, smoking, and employment to 1758 surviving subjects, of whom 1542 (87.7%) responded (75.0% of 2056).. Attacks of wheezing ever were reported by 239 (15.5%) respondents, of whom 177 (11.5% of 1542) reported adult onset wheeze-that is, onset at or after age 15 years. The prevalence of adult onset wheeze was similar for men and women (10.7% v 13.0%, χ2=1.95, P=0.16). Other subjects reporting wheeze included 17 with onset at age 10-14 years, 27 with onset before age 10 years, and 18 with no age specified.. Of the 177 ...
Researchers from McGill University have revealed that an enzyme called the focal adhesion kinase (FAK) plays a pivotal role in the onset of breast cancer
Systematic immunohistochemistry screening for lynch syndrome in early age-of-onset colorectal cancer patients undergoing surgical resection. Journal of the American College of Surgeons. 2012 ...
We found by analysis of cross-sectional data that LADA was four times more common in subjects with FHD. In addition, prospective data showed that subjects who had siblings with diabetes were twice as likely to develop LADA during the 11-year follow-up compared with those without FHD. Together, these findings demonstrate that FHD is a risk factor for LADA of the same magnitude as for type 2 diabetes.. With regard to type 2 diabetes, our study confirms previous findings indicating a four times increased prevalence in subjects with FHD (6-8). For type 1 diabetes, the association with FHD was weak compared with previous data (2). One reason may be that the majority of our type 1 diabetic subjects (66%) had onset at age ≥20. The genetic background may be stronger in subjects with early-onset type 1 diabetes (15). Accordingly, we found that 40% of subjects with onset of type 1 diabetes before the age of 20 had FHD compared with 25% of those with onset during adulthood.. Previous reports have shown ...
As the age of type 2 diabetes onset decreases, the need for primary prevention of CV complications increases - as illustrated in a recent study.
Yao L, Li K, Zhang L, Yao S, Piao Z, Song L. Influence of the Pro12Ala polymorphism of PPAR-gamma on age at onset and sRAGE levels in Alzheimers disease ...
The RPGers Profiles center Here you can write up a little profile about yourself as an RPGer. Its a great way of letting other people know a little about your abilities, and its a chance for you to share your interests and advice in one fell swoop. Username: Your current, or if youve changed it since you started RPGing, past Username. Name: Your actual name. This field is entirely optional, if you dont want people to know you can just leave it out. Age: Your current age.
Meta-analyses in adult-onset schizophrenia report loss of normal planum temporale (PT) asymmetry, posited to relate to language and symptoms, but are inconclusive regarding global cerebral torque. PT asymmetry has been reported unchanged in childhood onset schizophrenia. Here the discrepancy is examined in adolescence. Unbiased PT asymmetry and torque measures were obtained on 35 adolescents with schizophrenia or schizoaffective disorder and 31 adolescent controls. Patients had less PT asymmetry than controls, but torque was unchanged. Taken with previous reports, these results in adolescent onset psychosis suggest that local disturbance of cerebral asymmetry increases with patient age; it could indicate that differential rate of change at the cortical surface in the two hemispheres is the mechanism of symptom generation.
Increased Sweating & Severe Early-Onset Retinitis Pigmentosa Symptom Checker: Possible causes include Metabolic Syndrome. Check the full list of possible causes and conditions now! Talk to our Chatbot to narrow down your search.
... is dementia that begins before the age of 45. Early Onset Dementia covers dementia which happens between the ages of 45 and 65. Some definitions of Young-Onset Dementia includes anything before 65. A Mayo Clinic study found that Alzheimers Disease was not the primary cause for Young-Onset Dementia. It was more likely to be a "neurodegenerative or autoimmune/inflammatory condition." A Johns Hopkins Alert lists several of these conditions, including Creutzfeldt-Jakob disease ...
TY - JOUR. T1 - Does age at onset have clinical significance in older adults with bipolar disorder?. AU - Chu, David. AU - Gildengers, Ariel G.. AU - Houck, Patricia R.. AU - Anderson, Stewart J.. AU - Mulsant, Benoit H.. AU - Reynolds, Charles F.. AU - Kupfer, David J.. PY - 2010/12/1. Y1 - 2010/12/1. N2 - Objective: While age at onset may be useful in explaining some of the heterogeneity of bipolar disorder (BD) in large, mixed age groups, investigations to date have found few meaningful clinical differences between early versus late age at onset in older adults with BD. Methods Data were collected from sixty-one subjects aged 60 years and older, mean (SD) age 67.6 (7.0), with BD I (75%) and II (25%). Subjects were grouped by early (,40 years; n = 43) versus late (≥40 years; n = 18) age at onset. Early versus late onset groups were compared on psychiatric comorbidity, medical burden, and percentage of days well during study participation. Results Except for family history of major ...
We use cookies to ensure that we give you the best experience on our website. If you click Continue well assume that you are happy to receive all cookies and you wont see this message again. Click Find out more for information on how to change your cookie settings ...
Hello Everyone out there,I am here to give my testimony about a Herbalist doctor who helped me . I was infected with HERPES SIMPLEX VIRUS in 2011, i went to many hospitals for cure but there was no solution, so I was thinking how can I get a solution out so that my body can be okay. One day I was in the river side thinking where I can go to get solution. so a lady walked to me telling me why am I so sad and i open up all to her telling her my problem, she told me that she can help me out, she introduce me to a doctor who uses herbal medication to cure HERPES SIMPLEX VIRUS and gave me his email, so i mail him. He told me all the things I need to do and also give me instructions to take, which I followed properly. Before I knew what is happening after two weeks the HERPES SIMPLEX VIRUS that was in my body got vanished . so if you are also heart broken and also need a help, you can also email him at {[email protected] ...
These results suggest that pediatric CVID is not a distinct phenotype. Major features were comparable across the groups. This study underscores the need for continued longitudinal study of pediatric and early-onset CVID patients to further characterize accrual of features over time.
What is early onset Parkinsons disease, and how is it different? Learn how Parkinsons can affect younger individuals how their experience may differ.
Background: There is wide variation in the phenotypic expression of Parkinsons disease (PD) which is driven by both genetic and epidemiological influences. for young onset PD. We present here baseline clinical data from this large and demographically representative cohort. Results: 2247 PD cases were recruited (1987 recent onset 260 young onset). Recent onset cases had a mean (standard deviation SD) age of 67.6 years (9.3) at study entry 65.7% PKI-402 males with disease duration 1.3 years (0.9) MDS-UPDRS 3 scores 22.9 (12.3) LEDD 295?mg/day (211) and PDQ-8 score 5.9 (4.8). Young onset cases were 53.5 years old (7.8) at study entry 66.9% male with disease duration 10.2 years (6.7) MDS-UPDRS 3 scores 27.4 (15.3) LEDD 926?mg/day (567) and PDQ-8 score 11.6 (6.1). Conclusions: We have established a large clinical PD cohort consisting of young onset and recent onset cases which was created to assess variation in medical expression with regards to hereditary influences and that provides a system for ...
Objective: In a general population of employed persons with health insurance, what proportion of adult-onset asthma is caused by occupational exposures? Method: We conducted a 2-year prospective study to identify adult-onset asthma among health maintenance organization (HMO) members. Telephone interviews regarding occupational exposures, symptoms, medication use, and triggers were used to assess
Breast cancer is increasing in the industrialised countries. Due to early detection and adjuvaut treatment with radiotherapy, hormones and chemotherapy, mortality has decreased. The different adjuvant treatments have adverse effects. It is an important task is to estimate the risk of recurrence for the individual patient in order to tailor her individual treatment. This thesis aims at identifying predictors for disease development in primary and disseminated breast cancer.. Histologic grade was strongly correlated to breast cancer mortality in 630 patients with primary breast cancer. The combination of grade, tumour size and lymph node status in the Nottingham Prognostic Index provides a powerful instrument separating patients in groups with excellent, good, intermediate and poor prognosis.. Grade was more sensitive than S-phase fraction in identifying high risk patients and patients with very good prognosis.. Presence of cancer cells in blood- and lymph vessels close to the tumour in patients ...
Although there are similarities between patients with Parkinsons, there are some unique challenges that those with young-onset Parkinsons disease face.
A new study led by scientists at the University of Southampton has found that inherited variation in a particular gene may be to blame for the lower survival rate of patients diagnosed with early-onset breast cancer.. Breast cancer is the second leading cause of cancer-related death in women, with nearly 450,000 deaths per year from the disease worldwide. However, women aged 15-39 at diagnosis have a poorer chance of surviving their cancer than older women* (although survival rates for the disease are generally high).. This difference is partly due to the higher incidence of adverse tumour types that occur in younger women, but age is an independent risk factor even after accounting for differences in tumour type and treatment.. The Southampton study - one of the largest ever undertaken into the link between genes and breast cancer survival in women aged 40 or under at diagnosis - looked at which factors, other than the features of the cancer tissue, might contribute to the poorer survival rate ...
Primary open angle glaucoma (POAG) is a genetically and phenotypically complex disease that is a leading cause of blindness worldwide. Previously we completed a genome-wide scan for early-onset POAG that identified a locus on 9q22 (GLC1J). To identify potential causative variants underlying GLC1J, we used targeted DNA capture followed by high throughput sequencing of individuals from four GLC1J pedigrees, followed by Sanger sequencing to screen candidate variants in additional pedigrees. A mutation likely to cause early-onset glaucoma was not identified, however COL15A1 variants were found in the youngest affected members of 7 of 15 pedigrees with variable disease onset. In addition, the most common COL15A1 variant, R163H, influenced the age of onset in adult POAG cases. RNA in situ hybridization of mouse eyes shows that Col15a1 is expressed in the multiple ocular structures including ciliary body, astrocytes of the optic nerve and cells in the ganglion cell layer. Sanger sequencing of COL18A1, a
Results 1217 incident patients were observed, and a capture-recapture incidence of 2.77 per 100 000 person-years (95% CI 2.63 to 2.91). Prevalence on 31 December 2008 was 10.32 per 100 000 individuals (95% CI 9.78 to 10.86). The incident cohort had a higher median age at onset (63.0 vs 58.1 years) and more bulbar onset patients (30.0% vs 19.1%) compared with the prevalent cohort. Incidence and prevalence peaked in the 70-74 year age group followed by a rapid decline in older age. The male:female ratio in the premenopausal age group (1.91, 95% CI 1.32 to 2.79) was not significantly higher than that in the postmenopausal age group (1.50, 95% CI 1.34 to 1.67). ...
This method does not reliably detect mosaic variants; large deletions; large duplications, inversions, or other rearrangements; or deep intronic variants. It may be affected by allele dropout, it may not allow determination of the exact numbers of T/A or microsatellite repeats, and it does not allow any conclusion as to whether two heterozygous variants are present on the same or on different chromosome copies.. This test was developed, and its performance characteristics determined, by LabCorp. It has not been cleared or approved by the US Food and Drug Administration (FDA). The FDA has determined that such clearance or approval is not necessary. ...
In comparison with adult patients, childhood onset patients have a greater number of prepsychotic developmental disorders. One third have earlier forms of autis...
We use cookies to ensure that we give you the best experience on our website. If you click Continue well assume that you are happy to receive all cookies and you wont see this message again. Click Find out more for information on how to change your cookie settings ...
COPENHAGEN-Home improvement can be the source of adult-onset asthma. Some patients developed their disease from the use of floor-leveling putties, researchers reported at the European Respiratory Soci
This week BioNews reports a study that shows a gene variant (APOEe4) known to increase the risk of Alzheimers disease is involved in the way our brains function (1). Some headlines stated that people could be screened for Alzheimers disease risk, but at the moment it is not easy to diagnose the condition, and even more difficult to predict who will develop it. The causes of Alzheimers disease are not fully understood, and the consequences devastating. Unfortunately, we are all at some degree of risk and, with ever increasing numbers of people affected, there is an urgent need for effective treatments. It has been known for 15 years that the APOEe4 gene variant is a risk factor for late onset Alzheimers disease. The APOE gene exists in several forms (e2, e3 and e4) - and large population studies have shown that the e4 variant increases a persons risk of developing the condition (2). However, the APOEe4 variant is common - a quarter of the UK population have at least one copy - and most ...
Background The major determinant of age-at-onset (AAO) in Huntington disease (HD) is the length of the causative polyglutamine expansion in the huntingtin protein, which is inversely correlated with the AAO and the course of the disease. However, both environmental and genetic factors are thought to modify the disease. Here, genetic factors are proposed to have an essential influence and especially polymorphism in genes associated with HD pathogenesis are thought to act as genetic modifiers. One characteristic feature in HD pathogenesis is mitochondrial dysfunction, which is marked by an impairment of mitochondrial integrity and trafficking leading to a disruption of mitochondrial function and an inhibition of energy supply in the cell. Amongst others, mutant huntingtin was shown to lead to oxidative stress, increased fragmentation of mitochondria and reduced ATP levels. A regulated expression of proteins, involved in mitochondrial fission and fusion (eg, Mfn1, Mfn2) antagonises the pathogenic ...
The findings, which could lead to a new class of cancer drugs, appear in the current issue of ACS Chemical Biology.. "These are the first reported small-molecule HuR inhibitors that competitively disrupt HuR-RNA binding and release the RNA, thus blocking HuR function as a tumor-promoting protein," said Liang Xu, associate professor of molecular biosciences and corresponding author of the paper.. The results hold promise for treating a broad array of cancers in people. The researcher said HuR has been detected at high levels in almost every type of cancer tested, including cancers of the colon, prostate, breast, brain, ovaries, pancreas and lung.. "HuR inhibitors may be useful for many types of cancer," Xu said. "Since HuR is involved in many stem cell pathways, we expect HuR inhibitors will be active in inhibiting cancer stem cells, or the seeds of cancer, which have been a current focus in the cancer drug discovery field.". HuR has been studied for many years, but until now no direct HuR ...
Gianfrancesco MA, Stridh P, Shao X, Rhead B, Graves JS, Chitnis T, Waldman A, Lotze T, Schreiner T, Belman A, Greenberg B, Weinstock-Guttman B, Aaen G, Tillema JM, Hart J, Caillier S, Ness J, Harris Y, Rubin J, Candee M, Krupp L, Gorman M8, Benson L, Rodriguez M, Mar S, Kahn I, Rose J, Roalstad S, Casper TC, Shen L, Quach H, Quach D, Hillert J, Hedstrom A, Olsson T, Kockum I, Alfredsson L, Schaefer C, Barcellos LF, Waubant E; Network of Pediatric Multiple Sclerosis Centers; Genetic risk factors for pediatric-onset multiple sclerosis. Multiple Sclerosis Journal.2017 Oct 1 ...
Age at onset[edit]. Myopia is sometimes classified by the age at onset:[67] ... "A review and a suggested classification system for myopia on the basis of age-related prevalence and age of onset". Am J Optom ... Late adult onset myopia occurs after age 40.[56]. Prevention[edit]. Some suggest that more time spent outdoors during childhood ... Youth onset myopia occurs in early childhood or teenage, and the ocular power can keep varying until the age of 21, before ...
Onset Sudden. Gradual Age at onset Mostly in children. Mostly in adults ... Maturity onset diabetes of the young. Maturity onset diabetes of the young (MODY) is an autosomal dominant inherited form of ... Middle-aged animals are most commonly affected. Female dogs are twice as likely to be affected as males, while according to ... In genetically susceptible people, the onset of diabetes can be triggered by one or more environmental factors,[38] such as a ...
The peak onset is between 30 and 40 years of age,[13] with a second peak of onset occurring in the 6th decade of life.[122] ... Age. Usual onset between 15 and 30 years[34]. Peak incidence between. 15 and 25 years ... and often onsets between 30 and 40 years of age.[24] In some cases, primary sclerosing cholangitis occurs several years before ... People with ulcerative colitis usually present with diarrhea mixed with blood,[13] of gradual onset that persists for an ...
Usual onset. Any age[2][3]. Types. Central, nephrogenic, dipsogenic, gestational[1]. ... Central DI usually starts between the ages of 10 and 20 and occurs in males and females equally.[2] Nephrogenic DI can begin at ... is the most common imitator of diabetes insipidus at all ages. While many adult cases in the medical literature are associated ... any age.[3] The term "diabetes" is derived from the Greek word meaning siphon.[5] ...
... with an average onset of 30.[14] Diagnoses of POTS beyond age 40 are rare, perhaps because symptoms improve with age.[5] ... The average age of onset is 20 years old and it occurs more often in females.[1] ... For patients age 20 or older, increase in heart rate ≥30 bpm within 10 minutes of upright posture (tilt test or standing) from ... For patients age 12-19, heart rate increase must be ,40 bpm[4] ... For people aged between 12 and 19, the minimum increase for ...
... optic neuritis or sensory symptoms at onset, few attacks in the initial years and especially early age at onset, are associated ... It is similar to the age that secondary progressive usually begins in relapsing-remitting MS, around 40 years of age.[5] ... The usual age of onset for the primary progressive subtype is later than of the relapsing-remitting subtype. ... From the age of 16 until her death at 53, she had intermittent pain, weakness of the legs, and vision loss-symptoms typical of ...
Usual onset. Age over 40[1]. Causes. Unclear[1]. Risk factors. Family history, obesity, type 2 diabetes, not enough exercise, ... About 105 million people are affected globally.[3] BPH typically begins after the age of 40.[1] Half of males age 50 and over ... While the prevalence rate is 2.7% for men aged 45-49, it increases to 24% by the age of 80 years.[82] ... Benign prostatic hyperplasia is an age-related disease. Misrepair-accumulation aging theory[32][33] suggests that development ...
... premature aging of the skin of the hands and feet); early onset varicose veins; pneumothorax (collapse of a lung); recession of ... Myopathic EDS (mEDS) characterized by congenital muscle hypotonia, and/or muscle atrophy, that improves with age, Proximal ... Brittle Cornea Syndrome (BCS) characterized by thin cornea, early onset progressive keratoglobus; and blue sclerae. Classical- ... to mild later-onset), and bowing of limbs. Musculocontractural EDS (mcEDS) characterized by congenital multiple contractures, ...
Usual onset. Middle or older age[6]. Duration. Long term[6]. Causes. Obesity, lack of exercise, genetics[1][6]. ... Type 2 diabetes (T2D), formerly known as adult-onset diabetes, is a form of diabetes that is characterized by high blood sugar ... Onset of type 2 diabetes can be delayed or prevented through proper nutrition and regular exercise.[69][70] Intensive lifestyle ... "Monogenic Forms of Diabetes: Neonatal Diabetes Mellitus and Maturity-onset Diabetes of the Young". National Diabetes ...
The mean age of onset is around 60 years, although 5-10% of cases, classified as young onset PD, begin between the ages of 20 ... become more common with older age at onset.[10] Thus dopamine agonists are the preferred initial treatment for younger onset PD ... The stage of the disease and the age at disease onset determine which group is most useful.[72] ... Professional cyclist and Olympic medalist Davis Phinney, who was diagnosed with young onset Parkinson's at age 40, started the ...
onset , 40 years affects young and middle -aged women (ages 15-45) ... and giant-cell arteritis having a later age of onset. ... Age at onset ≥ 50 years. *New onset headache with localized ... Peak incidence: ages 40-60, males , females. Eosinophilic granulomatosis with polyangiitis (EGPA; formerly known as Churg- ... Giant-cell arteritis and Takayasu's arteritis have much in common,[8] but usually affect patients of different ages,[9] with ...
Age of onset is variable. The term 'juvenile' in the title of juvenile polyposis syndrome refers to the histological type of ... These usually begin appearing before age 20, but the term juvenile refers to the type of polyp (i.e benign hamartoma, as ... the polyps rather than age of onset. Affected individuals may present with rectal bleeding, abdominal pain, diarrhea or anemia ... opposed to adenoma for example), not to the age of the affected person.[1] While the majority of the polyps found in juvenile ...
Usual onset. Middle or older age[6]. Duration. Long term[6]. Causes. Obesity, lack of exercise, genetics[1][6]. ... Onset of type 2 diabetes can be delayed or prevented through proper nutrition and regular exercise.[60][61] Intensive lifestyle ... "Monogenic Forms of Diabetes: Neonatal Diabetes Mellitus and Maturity-onset Diabetes of the Young". National Diabetes ... such as increasing age, female gender, and genetics.[10] A lack of sleep has been linked to type 2 diabetes.[27] This is ...
Usual onset. Before age 6-12[3]. Duration. ,6 months[3]. Causes. Both genetic and environmental factors[4][5]. ... ADHD is estimated to affect about 6-7% of people aged 18 and under when diagnosed via the DSM-IV criteria.[21] When diagnosed ... People with ADHD of all ages are more likely to have problems with social skills, such as social interaction and forming and ... Adults with ADHD are diagnosed under the same criteria, including that their signs must have been present by the age of six to ...
For example, sevoflurane is pleasant to inhale and is rapid in onset and offset. It is also safe for all ages. However, it is ... In addition it is odourless or pleasant to inhale; safe for all ages and in pregnancy; not metabolised; rapid in onset and ... Xenon is odourless and rapid in onset, but is expensive and requires specialized equipment to administer and monitor. Nitrous ...
The age of onsets has two points of maximum at age 2 and around age 40. New findings propose that an earlier onset leads to a ... No differences in rate relating to gender were found, and average age at onset was 24 years. In the United States, Hereditary ... Hereditary spastic paraplegias can be classified based on the symptoms; mode of inheritance; the patient's age at onset; the ... In the past, HSP has been classified as early onset beginning in early childhood or later onset in adulthood. ...
Onset is usually at puberty. Males are more often affected than females. Rates decrease after the age of 50. The signs and ...
Onset of the juvenile form presents between two and twelve years of age. Duration of this form is in most cases about 6 years. ... With early onset, death usually occurs within 10 years from the onset of symptoms. Individuals with the infantile form usually ... Neonatal onset is also reported. Onset in adults is least frequent. In older patients, bulbar or pseudobulbar symptoms and ... The infantile form from birth to 2 years of age. The average duration of the infantile form of the illness is usually about 3 ...
Onset can be in childhood; however, in multiple studies the average age of onset was 45. Many studies showed that women are ...
Age of onset is puberty. Progressive in number and size. Not malignant. Can be treated with CO2 lasers or by removal by a ... The following is a list of conditions and complications associated with NF-1, and, where available, age range of onset and ... NF-1 is an age specific disease; most signs of NF-1 are visible after birth (during infancy), but many symptoms of NF-1 occur ... Their exact identity remains a bit of a mystery since they disappear over time (usually, by age 16), and they are not typically ...
Prevention is generally done in babies born less than 32 weeks gestational age. It is given by the endotracheal tube. Onset of ... Prevention is generally done in babies born less than 32 weeks gestational age. Tentative evidence supports use in drowning. ...
The disease is more common in female toy dogs of young and middle age. It has a rapid onset. The lesions of GME exist mainly in ... and German Shorthaired Pointers younger than two years of age. Many cases have fever, loss of appetite, and severe neck pain ...
Onset is most common after age 40, although symptoms can appear at any age. It may occur in more than one family member. ... Onset is generally after age 60. Movement starts in one limb or on one side of the body and usually progresses to include the ... Tremor may occur at any age but is most common in middle-age and older persons. It may be occasional, temporary, or occur ... Dystonic tremor occurs in individuals of all ages who are affected by dystonia, a movement disorder in which sustained ...
Usual onset. Before the age of three[1]. Duration. Few days[2]. ... This form of HHV-6 infects over 90% of infants by age 2. ... Roseola is an infectious disease caused by certain types of virus.[2] Most infections occur before the age of three.[1] ... Roseola typically affects children between six months and two years of age, and begins with a sudden high fever (39-40 °C; ... Symptoms vary from absent to the classic presentation of a fever of rapid onset followed by a rash.[1][2] The fever generally ...
It occurs in any age group and prior tension is present. Initial cases can be identified and the spread is gradual. . . . [T]he ... symptoms with rapid onset and recovery; occurrence in a segregated group; the presence of extraordinary anxiety; symptoms that ... It was established that the outbreaks began among the 14-year-olds, but that the heaviest incidence moved to the youngest age ... The earliest studied cases linked with epidemic hysteria are the dancing manias of the Middle Ages, including St. John's dance ...
The Age. *^ Kautsky, Karl (April 1901). "Trades Unions and Socialism". International Socialist Review. 1 (10). Retrieved 27 ... As collective bargaining and early worker unions grew with the onset of the Industrial Revolution, the government began to ...
5th Annual Early Age Onset Colorectal Cancer - Session VI: Palliative Care: Why Early is Best Including Guidance, Support and ... 5th Annual Early Age Onset Colorectal Cancer - Session VI * 1. THE LAYERS OF PALLIATIVE CARE , Treating the whole patient ... 5th Annual Early Age Onset Colorectal Cancer - Session VI: Palliative Care: Why Early is Best Including Guidance, Support and ... 2. CHACE JOHNSON • DIAGNOSED AGE 24 • NOT A FACTOR - AGE-HEALTH- FAMILY HISTORY • SEVERAL SURGERIES AND TREATMENTS • DIED AFTER ...
... the peak age of onset for the first psychotic episode is in the early to middle 20s; for females, it ... more ... The onset of schizophrenia usually occurs between the late teens and the mid-30s.{ref1} For males, ... encoded search term (At what age does onset of schizophrenia usually occur?) and At what age does onset of schizophrenia ... The onset of schizophrenia usually occurs between the late teens and the mid-30s. [1] For males, the peak age of onset for the ...
Thank you for supporting The Nations Second Annual Summit focused on early age onset of colorectal cancer (EAO-CRC). Your ...
Subjects with early-onset BDD (age 17 or younger) were compared to those with late-onset BDD. ... in sample 2 had BDD onset before age 18. A higher proportion of females had early-onset BDD in sample 1 but not in sample 2. On ... Age at onset and clinical correlates in body dysmorphic disorder.. Bjornsson AS1, Didie ER, Grant JE, Menard W, Stalker E, ... Those with early-onset BDD were more likely to report a gradual onset of BDD than those with late-onset in both samples. ...
The paper, published in the journal Diabetologia, examines how the direction of BMI change, as well as the age when obesity ... A new study shows that the timing of onset of obesity is linked to the risk of type 2 diabetes. ... Age of onset of obesity linked to higher diabetes risk. News-Medical. https://www.news-medical.net/news/20191222/Age-of-onset- ... Age of onset of obesity linked to higher diabetes risk. *Download PDF Copy ...
Children conceived by older men may be at greater risk for early-onset schizophrenia, a more severe form of the disorder, ... "Presumably, advanced paternal age increases risk for early-onset schizophrenia because advancing age is associated with an ... Advanced Paternal Age a Risk Factor for Early-Onset Schizophrenia. By Traci Pedersen Associate News Editor ... "After controlling for parental polygenic risk scores, every 10-year delay in paternal age increased the risk of early-onset ...
... the age of children at OCD onset was a focus of this study. Past researchers have reported that early age at onset is linked to ... Age at Child Obsessive-Compulsive Disorder Onset, 2014 (ICPSR 36232). Published: Jul 15, 2015 View help for published ... Age at Child Obsessive-Compulsive Disorder Onset, 2014. Ann Arbor, MI: Inter-university Consortium for Political and Social ... Age at Child Obsessive-Compulsive Disorder Onset, 2014. Ann Arbor, MI: Inter-university Consortium for Political and Social ...
Young-onset (also called early-onset) Alzheimers is an uncommon form of dementia that affects people younger than age 65. ... Due to their young age, people with young-onset Alzheimers may find that others do not believe they have the disease or ... Alzheimers disease has a tremendous impact at any age. But people with young-onset Alzheimers disease may face some unique ... On the other hand, if you know you carry a form of the young-onset genes, you may be able to take steps to make it easier for ...
... early-onset) Alzheimers disease is a rare form of dementia that presents unique challenges. Learn more about causes, diagnosis ... Young-onset Alzheimers: When symptoms begin before age 65. When Alzheimers begins in middle age, misdiagnosis may be more ... Young-onset (also called early-onset) Alzheimers is an uncommon form of dementia that affects people younger than age 65. ... How to cope with young-onset Alzheimers. Alzheimers disease has a tremendous impact at any age. But people with young-onset ...
Early age at onset cannot always be associated with a worse prognosis. Early age at onset is a worst prognostic factor for some ... Age at onset of MS as in most of ADs is defined as the age when the first symptoms appear, although the disease process may ... state that current age, together with duration of disease and apart from age at onset, influences MS progression [58]. ... one between ages 5 and 9 and a second between ages 10 and 14 [8]. On the other hand, an adult onset would be considered to be ...
Learn more about the age of onset for type 2 diabetes. Discover the diabetes risk factors for adults, teens, and children. Also ... find out what you can do to delay the onset of diabetes. ... Age at the time of diagnosis. Middle-aged and older adults are ... In 2015, adults aged 45 to 64 were the most diagnosed age group for diabetes. New cases of both type 1 and type 2 diabetes in ... Learn what you can do to prevent or delay its onset, no matter your age. ...
We compared PCA and LPA to each other and to an age-matched group of patients with early age at onset of Alzheimer disease (EO- ... Clinical syndromes associated with posterior atrophy: early age at onset AD spectrum.. Migliaccio R1, Agosta F, Rascovsky K, ... A) Posterior cortical atrophy (PCA), (B) logopenic/phonological progressive aphasia (LPA), and (C) early age at onset AD (EO-AD ... Clinical syndromes associated with posterior atrophy: early age at onset AD spectrum. [Neurology. 2010] ...
There is not an average age of onset, or diagnosis, but we frequently see that symptoms and behaviors may become more severe, ... What is the average age of diagnosis or onset? Thanks for your help!. ... Untreated SPD, even in a mild form will, in all likelihood, worsen as a child ages, and the challenges to his sensory systems ...
Medical Center researchers have identified a group of chromosomal regions that could be responsible for controlling the onset ... Age at onset of disease can also be genetically influenced. Understanding the regulation of onset will open new avenues of ... The average age at onset for individuals in the study with Alzheimers disease was 72.8 years old and 60.1 years old for ... The age of onset of Alzheimers disease is generally considered the time at which an individual begins to suffer short-term ...
... age at onset of puberty was obtained from age at Tanner stage I plus time from Tanner stage I to onset of puberty. The results ... Mean age at onset of breast development was 9.4 ± 1.1 years and 11.0 ± 1.1 years for genital development. Age at onset of pubic ... age at onset of genitalia development was unrelated to the presence of depression. Earlier age at onset of pubic hair ... 38 Because the exact age of pubertal onset could not be precisely observed, the age at pubertal onset was assumed to be the ...
Old Age With Onset Dementia and Alzheimers: Losing Your Memory. By Frosty Wooldridge,2019-11-21T02:19:44-05:00November 21st, ... Home/November 2019, Opinions/Old Age With Onset Dementia and Alzheimers: Losing Your Memory ... Old age isnt fun. Its okay for some people and totally miserable for others. One of my old triathete buddies, one of the ... In reality, old age aint for sissies. We face aching joints, arthritis, obesity, diabetes, heart disease and cancer. ...
... change in leptin over the 3 years preceding onset of puberty (LH) was not associated with age at onset of puberty in the boys ( ... Age Before Stage: Insulin Resistance Rises Before the Onset of Puberty. Alison N. Jeffery, Brad S. Metcalf, Joanne Hosking, ... Age Before Stage: Insulin Resistance Rises Before the Onset of Puberty. Alison N. Jeffery, Brad S. Metcalf, Joanne Hosking, ... Age Before Stage: Insulin Resistance Rises Before the Onset of Puberty Message Subject (Your Name) has forwarded a page to you ...
What Positive Thoughts About Old Age Do To Dementia Senior citizens who develop positive thoughts about old age are less likely ... Scientists from Australia and Japan united in a team effort to find a way to detect the early onset of Alzheimers disease. The ...
... does age of onset matter (anymore)? were found in PRIME PubMed. Download Prime PubMed App to iPhone or iPad. ... I will investigate reasons for why age of onset will not do any work to discriminate between which adult-onset diseases should ... I will investigate reasons for why age of onset will not do any work to discriminate between which adult-onset diseases should ... Age of OnsetFertilization in VitroGenetic CounselingGenetic Diseases, InbornGenetic TestingHumansPreimplantation Diagnosis ...
As age at asthma onset may determine the course of disease, associated comorbidities and response to therapy, researchers ... treatment with dupilumab reduced severe exacerbations and improved lung function regardless of early or late onset of asthma. ... with 300 mg in those with asthma onset before age 40 years and by 65% and 68%, respectively, in those with later onset. In ... As age at asthma onset may determine the course of disease, associated comorbidities and response to therapy, researchers ...
New-onset diabetes could be a sign of underlying pancreatic cancer in a small subset of patients who are 50 or older. ... New-Onset Diabetes Over Age 50 Could Be Sign of Pancreatic Cancer. ROCHESTER, Minn.-New-onset diabetes could be a sign of ... 4-New onset type 2 diabetes may be a sign of underlying pancreatic cancer in a small subset of patients 50 or older. In nearly ... Be aware that new onset diabetes in patients 50 or older may be a sign of underlying pancreatic cancer in about 1% of cases. ...
The age of onset is a medical term referring to the age at which an individual acquires, develops, or first experiences a ... meaning that most people develop scoliosis when they are of an age between ten and fifteen years. The age of onset of mental ... For instance, the general age of onset for the spinal disease scoliosis is "10-15 years old," ... "Adult mental health disorders and their age at onset". The British Journal of Psychiatry. 202 (s54): s5-s10. doi:10.1192/bjp.bp ...
Onset of Regular Smoking at Age ,18 (95% CI). % Onset of Regular Smoking at Age 18-20 (95% CI). % Onset of Regular Smoking at ... Prevalence of age at onset of regular smoking and outcomes. Prevalence of onset of regular smoking before age 18, at age 18 to ... Onset of regular smoking at age 18 to 20 also was associated with higher nicotine dependence in adulthood than at age 21 or ... of age at onset of regular smoking and outcomes were reported. Association of age with nicotine dependence was assessed by ...
The team s earlier work identified a broad chromosomal region linked to the age at onset of Alzheimer s and Parkinson s ... The experiment uncovered four genes, including GSTO1, located in the region of the genome earlier linked to age at onset, the ... Such genes that can impact patients age at onset for the two very prevalent neurological disorders are of particular interest ... "This study emphasizes the similarity between the two diseases by highlighting a single gene that influences their age of onset ...
In each case, medical records were reviewed for treated infections up to age two, and then for any subsequent diagnosis of ...
  • The researchers looked at over 11 000 women aged 18-23 years, who participated in the Australian Longitudinal Study on Women's Health (ALSWH) in 1996. (news-medical.net)
  • Researchers also found evidence for age at onset linkage to chromosomes 4 and 8, however, the linkage was not as statistically significant. (eurekalert.org)
  • As age at asthma onset may determine the course of disease, associated comorbidities and response to therapy, researchers performed this analysis to evaluate the efficacy of dupilumab ( Dupixent , Sanofi/Regeneron) in subgroups of patients with uncontrolled, moderate to severe asthma who were diagnosed with asthma within the first 40 years or life or after age 40 years. (healio.com)
  • The researchers overlaid three independent lines of genetic evidence to reveal those genes more likely to play a role in the disorders age at onset -- a method, called genomic convergence, which the Duke team developed. (innovations-report.com)
  • The experiment uncovered four genes, including GSTO1, located in the region of the genome earlier linked to age at onset, the researchers report. (innovations-report.com)
  • Researchers at Mayo Clinic believe there is a link between these modifiable lifestyle factors and the biological processes of aging. (eurekalert.org)
  • In a recent study, researchers demonstrated that a poor diet and lack of exercise accelerated the onset of cellular senescence and, in turn, age-related conditions in mice. (eurekalert.org)
  • Researchers from the Mayo Clinic Robert and Arlene Kogod Center on Aging found that exercise prevents premature senescent cell accumulation and protects against the damaging effects of an unhealthy diet, including deficiencies in physical, heart, and metabolic function, equivalent to diabetes. (eurekalert.org)
  • The researchers set the solar radiation at a constant level in the climate models, and Miller said the Little Ice Age likely would have occurred without decreased summer solar radiation at the time. (colorado.edu)
  • Improving the ability to predict a given person's age at onset would help researchers select candidates for AD prevention studies who are most likely to show a benefit within the study's duration. (alzforum.org)
  • By Mayo Clinic, ROCHESTER, Minn. -- In a groundbreaking population-based study, researchers in Mayo Clinic Cancer Center found that new onset of hyperglycemic diabetes in adults age 50 or older may be a signal of underlying pancreatic cancer. (rxpgnews.com)
  • In the largest study of brain development in preschoolers with autism to date, a study by UC Davis MIND Institute researchers has found that 3-year-old boys with regressive autism, but not early onset autism, have larger brains than their healthy counterparts. (ucdavis.edu)
  • The researchers collected magnetic resonance imaging (MRI) scans on 180 participants at age 3. (ucdavis.edu)
  • In the new work, the researchers used this short-lived fish to test the effects of resveratrol on aging-related physiological decay. (bio-medicine.org)
  • The researchers added resveratrol to daily fish food and found that this treatment increased longevity and also retarded the onset of aging-related decays in memory and muscular performance. (bio-medicine.org)
  • The researchers found 3 different distributions of age of onset, and patients from the US had a greater representation in the early age of onset subgroup. (bipolarnews.org)
  • Participants met researchers' criteria for CSA if they endorsed having experienced rape, sexual molestation, and/or forced sexual contact before age 16, or sexual contact by someone five or more years older before they reached age 16. (basisonline.org)
  • Other clinical features reflecting greater morbidity were also more common in the early-onset group, although these findings were not consistent across the two samples. (nih.gov)
  • 0001) with 300 mg, and in the early-onset group by 38% ( P = .0009) and 37% ( P = .0007), respectively, according to the new data. (healio.com)
  • Sixty-three percent of the sample from the US fell into the early-onset group versus 25% of those from Europe. (bipolarnews.org)
  • They also identified strong evidence for an age at onset gene for Parkinson's disease on chromosome 1. (eurekalert.org)
  • This study emphasizes the similarity between the two diseases by highlighting a single gene that influences their age of onset. (innovations-report.com)
  • Understanding the role this gene plays in Alzheimer and Parkinson diseases may, in the future, lead to a means to delay the disorders onset," she added, noting that even a short delay would benefit at-risk patients. (innovations-report.com)
  • In this study, we examined a G-to-A single nucleotide polymorphism of the ATM gene, to determine if it influences HNPCC age of onset. (aacrjournals.org)
  • However, a significantly elevated median age for the onset of PD was found among GSTM1 gene carriers (median age = 68 years) compared to PD patients being GSTM1 null genotypes (median age = 57 years). (diva-portal.org)
  • Our observations suggest that (H) 113 isoform of mEPHX, which has been suggested as a low activity isoform, is overrepresented in PD patients and that inherited carriers of the GSTM1 gene postpone the onset of PD. (diva-portal.org)
  • However, the mutated gene was an even stronger predictor of onset age. (alzforum.org)
  • The families also met one of two other criteria: either one individual in the family developed Parkinson's disease before age 54 years, or two affected siblings had identical versions of the parkin gene. (bio-medicine.org)
  • The fact that even heterozygotes developed Parkinson's disease at an earlier age than those with two normal copies indicates that the gene's effect may be stronger than previously recognized, and that screening for mutations in the gene may help identify those at risk of developing the condition. (bio-medicine.org)
  • The age of onset of Huntington's disease (HD) is inversely correlated with the CAG length in the HD gene. (biomedsearch.com)
  • Targeted candidate gene studies and a genome scan have suggested some loci as potential modifiers of the age of onset of HD. (biomedsearch.com)
  • Glutaredoxin 2 ( Grx2 ) Gene Deletion Induces Early Onset of Age-" by Hongli Wu, Yibo Yu et al. (unl.edu)
  • In this study, we investigated whether Grx2 gene deletion could induce faster age-related cataract formation and elucidated the biochemical changes effected by Grx2 gene deletion that may contribute to lens opacity. (unl.edu)
  • Maturity onset diabetes of the young" (MODY) refers to any of several hereditary forms of diabetes mellitus caused by mutations in an autosomal dominant gene disrupting insulin production. (wikipedia.org)
  • This supports previous observations that male sex, older age at onset, progressive disease, and cerebellar dysfunction worsen prognosis and that relapsing patients with MS who have initial sensory dysfunction may have a more benign disease course. (acpjc.org)
  • Carter SC, Leeuwenburgh C, Daniels M, Foster CT (2009) Influence of calorie restriction on measures of age related cognitive decline: role of increased physical activity. (springer.com)
  • In addition, resveratrol delays the age-dependent decay of locomotor activity and cognitive performances and reduces the expression of neurofibrillary degeneration in the brain. (nih.gov)
  • ACE scores were not related to age, current disability, or current level of cognitive impairment measured by the Symbol Digit Modalities Test (SDMT). (frontiersin.org)
  • Therefore, as a consequence of aging and hearing loss, all listening becomes effortful and cognitive load is constantly high, reducing the amount of available cognitive resources. (frontiersin.org)
  • Is there a relation between onset age of bilingualism and enhancement of cognitive control? (harvard.edu)
  • Other studies have shown an association between earlier onset type 1 diabetes and cognitive difficulties, so we expected to find that people with earlier age of onset would have weaker connections between brain regions," said John Ryan, Ph.D., assistant professor of psychiatry at Pitt. (healthcanal.com)
  • CONCLUSIONS: Uncontrolled seizures impair cognitive function with effects being most severe in infancy and lessening with increasing age at onset. (luriechildrens.org)
  • It is very possible that older age may amplify the progression of brain abnormalities and possibly lead to a faster cognitive decline than what would be observed because of age alone. (psypost.org)
  • Mattai A, Hosanagar A, Weisinger B, Greenstein D, Stidd R, Clasen L. Hippocampal volume development in healthy siblings of childhood-onset schizophrenia patients. (medscape.com)
  • They can appear during childhood, adulthood or late in life and may vary depending on the age at onset. (hindawi.com)
  • Type 1 diabetes mellitus (T1D) is considered a childhood and adolescent disease with two peaks of onset, one between ages 5 and 9 and a second between ages 10 and 14 [ 8 ]. (hindawi.com)
  • showed that childhood onset had higher odds of presenting proteinuria, haemolytic anaemia, arthritis, leucopenia, and anti-dsDNA antibody. (hindawi.com)
  • A cohort of uniform age with measures from early childhood, in addition to measures of pubertal maturation, is needed to establish when IR begins to rise in relation to puberty. (diabetesjournals.org)
  • EarlyBird is a prospective cohort study of healthy children extending over the course of childhood, and the aims of this analysis were to establish, from longitudinal data, the trends in IR during contemporary childhood and their relationship to age, TS, LH, IGF-1, and adiposity. (diabetesjournals.org)
  • Adverse childhood experience scores, a measure of exposure to adverse events in childhood, significantly predicted age of MS onset ( r = -0.30, p = 0.04). (frontiersin.org)
  • Childhood adversity may increase the likelihood of earlier age of onset and poorer estimated premorbid IQ in MS. (frontiersin.org)
  • Age at the time of first alcohol and cannabis use was investigated in relation to a measure of transmissible (intergenerational) risk for addiction in childhood and development of alcohol use disorder (AUD) and cannabis use disorder (CUD). (rti.org)
  • But instead, we found that those who were diagnosed later in childhood had the weaker brain connections as they aged. (healthcanal.com)
  • The participant group is one of the few in the country in which people with childhood onset type 1 diabetes have been followed throughout their lifespan. (healthcanal.com)
  • 19 The phenotype of childhood-onset dystonia beginning in a limb and spreading to other sites is highly associated with the DYT1 mutation. (neurology.org)
  • Hesselbrock, 1999), age at first drink, age of onset of AD, and Traumatic Events and Early Childhood Experiences. (basisonline.org)
  • Childhood sexual abuse is associated with adverse mental health consequences but as there is a gender difference in stress reactivity, there may be a differential impact of CSA on psychopathology, age of psychosis onset and needs for care in First Episode Psychosis (FEP) patients. (eurekamag.com)
  • Earlier age at onset of pubic hair development was unrelated to the presence of depression in girls and boys. (aappublications.org)
  • Revealing such associations in MMR mutation carriers may improve risk estimates and help to identify individuals who are genetically susceptible to developing HNPCC at an earlier age. (aacrjournals.org)
  • Having a close friend that smoked and a smoker at home correlated significantly with both initiation of smoking and smoking at an earlier age. (mdpi.com)
  • Students who reported smoking by parents or siblings were significantly more likely to start smoking at an earlier age, compared to other students living in a non-smoking home environment. (mdpi.com)
  • The effect of ApoE4 on amyloid-β (Aβ) accumulation through impaired Aβ turnover, increased aggregation, and thus plaque formation is allele dosage-dependent and this can partly explain its effect on the earlier age of disease onset. (fightaging.org)
  • These studies are also inconclusive because an earlier age of first drink is associated with later AD regardless of CSA status (DeWit, 2000). (basisonline.org)
  • Such genes that can impact patients age at onset for the two very prevalent neurological disorders are of particular interest as alternative targets for treatment, said Margaret Pericak-Vance, Ph.D., director of the Duke Center for Human Genetics. (innovations-report.com)
  • Chromosome 2p25 (logarithm of the odds ratio (LOD)=4.29) and 2q35 (LOD=3.39) may contain genes that modify age of onset. (biomedsearch.com)
  • Although the variation in age at onset (AO) is partly explained by the lengths of the expanded repeat, the unexplained variation in AO is heritable, emphasising the role of modifier genes on disease expression. (bmj.com)
  • This type isn't caused by genetics, and experts don't know why these people get the disease at a younger age than others do. (mayoclinic.org)
  • The age at onset varies widely depending on the disease. (hindawi.com)
  • Patients at this age are susceptible to a longer lifetime of damage from the disease flares and the treatment side effects and a mortality rate that is 2 times higher [ 11 , 12 ]. (hindawi.com)
  • We compared PCA and LPA to each other and to an age-matched group of patients with early age at onset of Alzheimer disease (EO-AD). (nih.gov)
  • Age at onset of disease can also be genetically influenced. (eurekalert.org)
  • Albers DS, Beal MF (2000) Mitochondrial dysfunction and oxidative stress in aging and neurodegenerative disease. (springer.com)
  • While most people who carry one of these mutations develop AD earlier than do people with the more common sporadic form of the disease, the variation in age at onset in FAD is large. (alzforum.org)
  • 2 months before disease onset, already harbor pathogenic T-cells in equal numbers to overtly diabetic animals. (diabetesjournals.org)
  • In NOD mice, rupture of self-tolerance is first evidenced at 3-4 weeks of age when the initial wave of mononuclear cells infiltrates pancreatic islets that is ∼3-4 months before the first signs of overt disease, as assessed by glycosuria and hyperglycemia ( 1 , 6 , 7 ). (diabetesjournals.org)
  • Medical records of 1898 SLE inpatients from 15 hospitals were reviewed and classified into three groups according to their ages at disease presentation. (nih.gov)
  • The length of the CAG repeat tract is the major determinant of age of onset (AO) of Huntington's Disease (HD) However, there remains a significant variance in AO when the expanded repeat size is ruled out. (intechopen.com)
  • Information regarding disease course, smoking history, death age, number of admissions per year, Hugh Jones Index, and self-reported comorbidities of the patients was recorded. (dovepress.com)
  • Genomewide linkage scan reveals novel loci modifying age of onset of Huntington's disease in the Venezuelan HD kindreds. (biomedsearch.com)
  • and Department of Pathology and Laboratory Medicine, Center for Neurodegenerative Disease Research and Institute on Aging (J.Q.T.), University of Pennsylvania, Philadelphia. (neurology.org)
  • Data are also given for the risk of developing Huntington's disease over varying finite periods in relation to age. (bmj.com)
  • Remitting course of disease, paresthesia at onset, and younger age at onset were the strongest predictors for longer survival in a cohort of patients with multiple sclerosis. (acpjc.org)
  • Reported age-adjusted intake of natural protein and calories was significantly higher in LO patients than in EO patients reflecting different disease severities. (uzh.ch)
  • ever-smoking associated with older onset disease. (whiterose.ac.uk)
  • This could be related to either the increased duration of obesity, or the ill-effects of obesity of early onset on insulin metabolism at an early age. (news-medical.net)
  • However, we report here that TDAG51 deficiency contributes to the development of age-onset obesity, hepatic steatosis and insulin resistance.To assess the effects of TDAG51 on energy metabolism, cell culture studies and TDAG51- deficient (TDAG51-/-) mice were utilized in these studies. (omicsonline.org)
  • This communication presents the survival experience of a group of 586 individuals with acute leukemia in relation to their blood groups, sex, and age at symptomatic onset. (annals.org)
  • Children conceived by older men may be at greater risk for early-onset schizophrenia , a more severe form of the disorder, according to a new study published in the journal Biological Psychiatry . (psychcentral.com)
  • Consequently, the age of children at OCD onset was a focus of this study. (umich.edu)
  • A 2012 study published in the ADA Journal Diabetes Care considered the potential future number of diabetes cases in people under the age of 20. (healthline.com)
  • The method used to detect pubertal onset is important for a study of pubertal IR, but the issue is not straightforward. (diabetesjournals.org)
  • This study examined whether delaying regular smoking until after age 21 had additional health benefits beyond those associated with delaying regular smoking until after age 18. (cdc.gov)
  • The major funding for the study was provided by the National Institute on Aging, the National Institute of Neurological Disorders and Stroke, the Alzheimer s Association, the Institute de France, and the American Federation for Aging Research. (innovations-report.com)
  • The mean age of onset of type 1 diabetes was 26 in our study. (thefreedictionary.com)
  • Gifford Miller collects dead plant samples from melting ice for a study on the Little Ice Age. (colorado.edu)
  • Now, a new study led by INSTAAR Fellow and Geological Sciences Professor Gifford Miller indicates that the Little Ice Age began abruptly between A.D. 1275 and 1300, triggered by repeated, explosive volcanism and sustained by a self-perpetuating sea ice-ocean feedback system in the North Atlantic Ocean. (colorado.edu)
  • The new study, funded by the National Science Foundation and the Icelandic Science Foundation, suggests that the onset of the Little Ice Age was caused by an unusual, 50-year-long episode of four massive tropical volcanic eruptions. (colorado.edu)
  • A new study led by INSTAAR Fellow Gifford Miller appears to answer contentious questions about the onset and. (colorado.edu)
  • The study also revealed that age at onset still varies even after controlling for these two parameters, and that ApoE genotype accounted for only a small part of this variability. (alzforum.org)
  • Kauwe, who was not involved in the work, added that the study also reiterates previous findings showing a broad range of age at onset within familial AD (see full comment below). (alzforum.org)
  • Two control-participants were matched based on age, sex, and study location to each case patient, resulting in 615 potential case-patients and 1,212 control-participants. (cdc.gov)
  • A recent study showed that Finland's record type 1 diabetes incidence increased predominantly in younger age-groups ( 1 , 2 ). (diabetesjournals.org)
  • This study involves four days of testing at the UCSF Memory and Aging Center in San Francisco, California . (ucsf.edu)
  • Dr. Chari and his team's study shows that new-onset diabetes defines a high-risk group for pancreatic cancer. (rxpgnews.com)
  • The study population of 2,122 patients was drawn from the Rochester Epidemiology Project and included all residents age 50 or older of Rochester, Minn., between 1950 and 1995. (rxpgnews.com)
  • For the study, the authors enrolled a total of 180 children between age 2 and 4. (ucdavis.edu)
  • All of the study participants had onset of type 1 diabetes before age 18 and were enrolled in the Pittsburgh Epidemiology of Diabetes Complications Study, which is an ongoing investigation led by Caterina Rosano, M.D., M.P.H., at Pitt's Graduate School of Public Health documenting long-term complications of type 1 diabetes among patients at Children's Hospital of Pittsburgh of UPMC between 1950 and 1980. (healthcanal.com)
  • The aim of our study was to analyze the association of per-capita gross domestic product (GDP), total health expenditures, and unemployment rate with incident risk of stroke, 30-day case-fatality, proportion of primary intracerebral hemorrhages, and age at stroke onset in population-based studies. (ahajournals.org)
  • Therefore, we investigated fish intake and RA risk by serologic status, age of onset, and smoking using a prospective cohort study with large sample size, repeated measures of dietary intake, and lengthy follow-up. (springer.com)
  • In conclusion, the results of this first of its kind study show that soy intake does not affect the age at which girls begin menstruation. (thesoyfoodscouncil.com)
  • Half the study participants had onset of type 1 diabetes before age 8 and were matched with participants of the same sex and age who were diagnosed after age 8, but before age 17. (psypost.org)
  • In many countries throughout the world, the age at which puberty occurs among girls-manifested as breast development, appearance of pubic hair, and onset of menarche-has been commencing earlier. (thesoyfoodscouncil.com)
  • In addition, the mean age at first skin tumor for BCC cases with the AA genotype was significantly lower than the mean age for BCC cases with the AC or CC genotype ( P = 0.012). (aacrjournals.org)
  • Previous research examined these outcomes with relation to initiation before age 17 (6,7). (cdc.gov)
  • Bivariate logistic regression analysis modeled the relationship between age at disability onset (based on self-report of duration of disability) and fair/poor self-perceived health status, adjusting for confounding variables. (oregonstate.edu)
  • Future research relating to global health status and disability should consider incorporating age at disability onset. (oregonstate.edu)
  • Anxiety and self-esteem of 105 wheelchair-bound persons, distributed over four age-of-disability-onset groups, were assessed by the State-Trait Anxiety Inventory and the Self-Esteem Inventory. (ovid.com)
  • Significantly higher levels of trait anxiety and lower levels of self-esteem were found in the earliest disability-onset group. (ovid.com)
  • Our present results suggest, however, that diabetes onset is only partly explained by a decline in this regulatory T-cell activity. (diabetesjournals.org)
  • Does diabetes onset exclusively result from either the decrease in regulatory T-cells over time or from the progressive expansion of β-cell-specific T-cell effectors overriding the control afforded by regulatory T-cells? (diabetesjournals.org)
  • The term MODY dates back to 1964, when diabetes mellitus was considered to have two main forms: juvenile-onset and maturity-onset, which roughly corresponded to what we now call type 1 and type 2. (wikipedia.org)
  • The association between rs17716942 and age of onset was not replicated in a fourth independent cohort of 489 patients ( P = 0.94). (pubmedcentralcanada.ca)
  • By age 42 9890 cohort members had provided a full occupational history and health information. (bmj.com)
  • Four digit comprehensive HLA typing enabled great precision and a large cohort allowed for consideration of both age of onset and subtype. (pubmedcentralcanada.ca)
  • We tested the association between the ATM genotypes and HNPCC age of onset by survival analysis. (aacrjournals.org)
  • We tested the association between age of onset and the DNMT3b genotypes by comparing Kaplan-Meier survival curves, evaluating the homogeneity of the curves using the log-rank test and Wilcoxon's test, and estimating the association using the Cox proportional hazards regression model to adjust for potential demographic confounding factors. (aacrjournals.org)
  • Patients with intractable, very early-onset absence epilepsy with a myoclonic component have an unfavourable outcome and may be classified under a new epileptic syndrome, such as "early infantile absence epilepsy" . (jle.com)
  • Stroke outcome is determined by a complex interplay, where age and stroke severity are predominant predictors. (lu.se)
  • Ahn SH, Son BH, Kim SW, Kim SI, Jeong J, Ko SS, Han W (2007) Poor outcome of hormone receptor-positive breast cancer at very young age is due to tamoxifen resistance: nationwide survival data in Korea-a report from the Korean Breast Cancer Society. (springer.com)
  • 95% confidence interval [CI] = 1.2-2.7) in the 2 weeks before illness onset. (cdc.gov)
  • As we have previously reported in the BNN , the Bipolar Collaborative Network (including this editor Robert M. Post) found that patients from 4 sites in the United States had significantly earlier ages of onset of their bipolar illness compared to 3 sites in the Netherlands and Germany). (bipolarnews.org)
  • Initiating appropriate treatment is extremely important, since the duration of the untreated interval (that is, the time from illness onset to first treatment) is directly related to worse outcomes in adulthood. (bipolarnews.org)