Abnormalities, MultipleChromosome Aberrations: Abnormal number or structure of chromosomes. Chromosome aberrations may result in CHROMOSOME DISORDERS.Congenital Abnormalities: Malformations of organs or body parts during development in utero.Chromosome Disorders: Clinical conditions caused by an abnormal chromosome constitution in which there is extra or missing chromosome material (either a whole chromosome or a chromosome segment). (from Thompson et al., Genetics in Medicine, 5th ed, p429)Eye Abnormalities: Congenital absence of or defects in structures of the eye; may also be hereditary.Karyotyping: Mapping of the KARYOTYPE of a cell.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.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.Cardiovascular Abnormalities: Congenital, inherited, or acquired anomalies of the CARDIOVASCULAR SYSTEM, including the HEART and BLOOD VESSELS.Craniofacial Abnormalities: Congenital structural deformities, malformations, or other abnormalities of the cranium and facial bones.Syndrome: A characteristic symptom complex.Skin Abnormalities: Congenital structural abnormalities of the skin.Phenotype: The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.Urogenital Abnormalities: Congenital structural abnormalities of the UROGENITAL SYSTEM in either the male or the female.Pregnancy: The status during which female mammals carry their developing young (EMBRYOS or FETUSES) in utero before birth, beginning from FERTILIZATION to BIRTH.Trisomy: The possession of a third chromosome of any one type in an otherwise diploid cell.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.Musculoskeletal Abnormalities: Congenital structural abnormalities and deformities of the musculoskeletal system.In Situ Hybridization, Fluorescence: A type of IN SITU HYBRIDIZATION in which target sequences are stained with fluorescent dye so their location and size can be determined using fluorescence microscopy. This staining is sufficiently distinct that the hybridization signal can be seen both in metaphase spreads and in interphase nuclei.Tooth Abnormalities: Congenital absence of or defects in structures of the teeth.Translocation, Genetic: A type of chromosome aberration characterized by CHROMOSOME BREAKAGE and transfer of the broken-off portion to another location, often to a different chromosome.Infant, Newborn: An infant during the first month after birth.Aneuploidy: The chromosomal constitution of cells which deviate from the normal by the addition or subtraction of CHROMOSOMES, chromosome pairs, or chromosome fragments. In a normally diploid cell (DIPLOIDY) the loss of a chromosome pair is termed nullisomy (symbol: 2N-2), the loss of a single chromosome is MONOSOMY (symbol: 2N-1), the addition of a chromosome pair is tetrasomy (symbol: 2N+2), the addition of a single chromosome is TRISOMY (symbol: 2N+1).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.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.Sex Chromosome Aberrations: Abnormal number or structure of the SEX CHROMOSOMES. Some sex chromosome aberrations are associated with SEX CHROMOSOME DISORDERS and SEX CHROMOSOME DISORDERS OF SEX DEVELOPMENT.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.Abnormalities, Drug-Induced: Congenital abnormalities caused by medicinal substances or drugs of abuse given to or taken by the mother, or to which she is inadvertently exposed during the manufacture of such substances. The concept excludes abnormalities resulting from exposure to non-medicinal chemicals in the environment.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.Time Factors: Elements of limited time intervals, contributing to particular results or situations.Fetal Diseases: Pathophysiological conditions of the FETUS in the UTERUS. Some fetal diseases may be treated with FETAL THERAPIES.Schizophrenia: A severe emotional disorder of psychotic depth characteristically marked by a retreat from reality with delusion formation, HALLUCINATIONS, emotional disharmony, and regressive behavior.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.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.Cytogenetic Analysis: Examination of CHROMOSOMES to diagnose, classify, screen for, or manage genetic diseases and abnormalities. Following preparation of the sample, KARYOTYPING is performed and/or the specific chromosomes are analyzed.Brain Diseases: Pathologic conditions affecting the BRAIN, which is composed of the intracranial components of the CENTRAL NERVOUS SYSTEM. This includes (but is not limited to) the CEREBRAL CORTEX; intracranial white matter; BASAL GANGLIA; THALAMUS; HYPOTHALAMUS; BRAIN STEM; and CEREBELLUM.Tomography, X-Ray Computed: Tomography using x-ray transmission and a computer algorithm to reconstruct the image.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.Ultrasonography, Prenatal: The visualization of tissues during pregnancy through recording of the echoes of ultrasonic waves directed into the body. The procedure may be applied with reference to the mother or the fetus and with reference to organs or the detection of maternal or fetal disease.Chromosome Deletion: Actual loss of portion of a chromosome.Heart Defects, Congenital: Developmental abnormalities involving structures of the heart. These defects are present at birth but may be discovered later in life.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)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.Chromosome Banding: Staining of bands, or chromosome segments, allowing the precise identification of individual chromosomes or parts of chromosomes. Applications include the determination of chromosome rearrangements in malformation syndromes and cancer, the chemistry of chromosome segments, chromosome changes during evolution, and, in conjunction with cell hybridization studies, chromosome mapping.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.Cytogenetics: A subdiscipline of genetics which deals with the cytological and molecular analysis of the CHROMOSOMES, and location of the GENES on chromosomes, and the movements of chromosomes during the CELL CYCLE.Prenatal Diagnosis: Determination of the nature of a pathological condition or disease in the postimplantation EMBRYO; FETUS; or pregnant female before birth.Nervous System Malformations: Structural abnormalities of the central or peripheral nervous system resulting primarily from defects of embryogenesis.Echocardiography: Ultrasonic recording of the size, motion, and composition of the heart and surrounding tissues. The standard approach is transthoracic.Mice, Transgenic: Laboratory mice that have been produced from a genetically manipulated EGG or EMBRYO, MAMMALIAN.Mice, Mutant Strains: Mice bearing mutant genes which are phenotypically expressed in the animals.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.Homozygote: An individual in which both alleles at a given locus are identical.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.Mice, Inbred C57BLHeterozygote: An individual having different alleles at one or more loci regarding a specific character.Intellectual Disability: Subnormal intellectual functioning which originates during the developmental period. This has multiple potential etiologies, including genetic defects and perinatal insults. Intelligence quotient (IQ) scores are commonly used to determine whether an individual has an intellectual disability. IQ scores between 70 and 79 are in the borderline range. Scores below 67 are in the disabled range. (from Joynt, Clinical Neurology, 1992, Ch55, p28)Chromosomes, Human, Pair 13: A specific pair of GROUP D CHROMOSOMES of the human chromosome classification.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.Biopsy: Removal and pathologic examination of specimens in the form of small pieces of tissue from the living body.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.Agenesis of Corpus Callosum: Birth defect that results in a partial or complete absence of the CORPUS CALLOSUM. It may be isolated or a part of a syndrome (e.g., AICARDI'S SYNDROME; ACROCALLOSAL SYNDROME; ANDERMANN SYNDROME; and HOLOPROSENCEPHALY). Clinical manifestations include neuromotor skill impairment and INTELLECTUAL DISABILITY of variable severity.Down Syndrome: A chromosome disorder associated either with an extra chromosome 21 or an effective trisomy for chromosome 21. Clinical manifestations include hypotonia, short stature, brachycephaly, upslanting palpebral fissures, epicanthus, Brushfield spots on the iris, protruding tongue, small ears, short, broad hands, fifth finger clinodactyly, Simian crease, and moderate to severe INTELLECTUAL DISABILITY. Cardiac and gastrointestinal malformations, a marked increase in the incidence of LEUKEMIA, and the early onset of ALZHEIMER DISEASE are also associated with this condition. Pathologic features include the development of NEUROFIBRILLARY TANGLES in neurons and the deposition of AMYLOID BETA-PROTEIN, similar to the pathology of ALZHEIMER DISEASE. (Menkes, Textbook of Child Neurology, 5th ed, p213)Digestive System Abnormalities: Congenital structural abnormalities of the DIGESTIVE SYSTEM.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.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.Limb Deformities, Congenital: Congenital structural deformities of the upper and lower extremities collectively or unspecified.Mosaicism: The occurrence in an individual of two or more cell populations of different chromosomal constitutions, derived from a single ZYGOTE, as opposed to CHIMERISM in which the different cell populations are derived from more than one zygote.Chromosomes, Human, Pair 11: A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.Neurologic Examination: Assessment of sensory and motor responses and reflexes that is used to determine impairment of the nervous system.Diffusion Magnetic Resonance Imaging: A diagnostic technique that incorporates the measurement of molecular diffusion (such as water or metabolites) for tissue assessment by MRI. The degree of molecular movement can be measured by changes of apparent diffusion coefficient (ADC) with time, as reflected by tissue microstructure. Diffusion MRI has been used to study BRAIN ISCHEMIA and tumor response to treatment.Ocular Motility Disorders: Disorders that feature impairment of eye movements as a primary manifestation of disease. These conditions may be divided into infranuclear, nuclear, and supranuclear disorders. Diseases of the eye muscles or oculomotor cranial nerves (III, IV, and VI) are considered infranuclear. Nuclear disorders are caused by disease of the oculomotor, trochlear, or abducens nuclei in the BRAIN STEM. Supranuclear disorders are produced by dysfunction of higher order sensory and motor systems that control eye movements, including neural networks in the CEREBRAL CORTEX; BASAL GANGLIA; CEREBELLUM; and BRAIN STEM. Ocular torticollis refers to a head tilt that is caused by an ocular misalignment. Opsoclonus refers to rapid, conjugate oscillations of the eyes in multiple directions, which may occur as a parainfectious or paraneoplastic condition (e.g., OPSOCLONUS-MYOCLONUS SYNDROME). (Adams et al., Principles of Neurology, 6th ed, p240)Myelodysplastic Syndromes: Clonal hematopoietic stem cell disorders characterized by dysplasia in one or more hematopoietic cell lineages. They predominantly affect patients over 60, are considered preleukemic conditions, and have high probability of transformation into ACUTE MYELOID LEUKEMIA.Gestational Age: The age of the conceptus, beginning from the time of FERTILIZATION. In clinical obstetrics, the gestational age is often estimated as the time from the last day of the last MENSTRUATION which is about 2 weeks before OVULATION and fertilization.Abnormal Karyotype: A variation from the normal set of chromosomes characteristic of a species.Nerve Fibers, Myelinated: A class of nerve fibers as defined by their structure, specifically the nerve sheath arrangement. The AXONS of the myelinated nerve fibers are completely encased in a MYELIN SHEATH. They are fibers of relatively large and varied diameters. Their NEURAL CONDUCTION rates are faster than those of the unmyelinated nerve fibers (NERVE FIBERS, UNMYELINATED). Myelinated nerve fibers are present in somatic and autonomic nerves.Gene Deletion: A genetic rearrangement through loss of segments of DNA or RNA, bringing sequences which are normally separated into close proximity. This deletion may be detected using cytogenetic techniques and can also be inferred from the phenotype, indicating a deletion at one specific locus.Heart: The hollow, muscular organ that maintains the circulation of the blood.Infertility, Male: The inability of the male to effect FERTILIZATION of an OVUM after a specified period of unprotected intercourse. Male sterility is permanent infertility.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.Blood Coagulation Disorders: Hemorrhagic and thrombotic disorders that occur as a consequence of abnormalities in blood coagulation due to a variety of factors such as COAGULATION PROTEIN DISORDERS; BLOOD PLATELET DISORDERS; BLOOD PROTEIN DISORDERS or nutritional conditions.Chromosomes, Human, Pair 7: A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.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.Immunohistochemistry: Histochemical localization of immunoreactive substances using labeled antibodies as reagents.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.Heart Diseases: Pathological conditions involving the HEART including its structural and functional abnormalities.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.Base Sequence: The sequence of PURINES and PYRIMIDINES in nucleic acids and polynucleotides. It is also called nucleotide sequence.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.Nervous System Diseases: Diseases of the central and peripheral nervous system. This includes disorders of the brain, spinal cord, cranial nerves, peripheral nerves, nerve roots, autonomic nervous system, neuromuscular junction, and muscle.Corpus Callosum: Broad plate of dense myelinated fibers that reciprocally interconnect regions of the cortex in all lobes with corresponding regions of the opposite hemisphere. The corpus callosum is located deep in the longitudinal fissure.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.Acute Disease: Disease having a short and relatively severe course.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.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.Tomography, Emission-Computed, Single-Photon: A method of computed tomography that uses radionuclides which emit a single photon of a given energy. The camera is rotated 180 or 360 degrees around the patient to capture images at multiple positions along the arc. The computer is then used to reconstruct the transaxial, sagittal, and coronal images from the 3-dimensional distribution of radionuclides in the organ. The advantages of SPECT are that it can be used to observe biochemical and physiological processes as well as size and volume of the organ. The disadvantage is that, unlike positron-emission tomography where the positron-electron annihilation results in the emission of 2 photons at 180 degrees from each other, SPECT requires physical collimation to line up the photons, which results in the loss of many available photons and hence degrades the image.Reproducibility of Results: The statistical reproducibility of measurements (often in a clinical context), including the testing of instrumentation or techniques to obtain reproducible results. The concept includes reproducibility of physiological measurements, which may be used to develop rules to assess probability or prognosis, or response to a stimulus; reproducibility of occurrence of a condition; and reproducibility of experimental results.Anisotropy: A physical property showing different values in relation to the direction in or along which the measurement is made. The physical property may be with regard to thermal or electric conductivity or light refraction. In crystallography, it describes crystals whose index of refraction varies with the direction of the incident light. It is also called acolotropy and colotropy. The opposite of anisotropy is isotropy wherein the same values characterize the object when measured along axes in all directions.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.DNA Mutational Analysis: Biochemical identification of mutational changes in a nucleotide sequence.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.Chromosomes, Human, Pair 17: A specific pair of GROUP E CHROMOSOMES of the human chromosome classification.Chromosomes, Human, Pair 18: A specific pair of GROUP E CHROMOSOMES of the human chromosome classification.Monosomy: The condition in which one chromosome of a pair is missing. In a normally diploid cell it is represented symbolically as 2N-1.Kidney: Body organ that filters blood for the secretion of URINE and that regulates ion concentrations.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.Arrhythmias, Cardiac: Any disturbances of the normal rhythmic beating of the heart or MYOCARDIAL CONTRACTION. Cardiac arrhythmias can be classified by the abnormalities in HEART RATE, disorders of electrical impulse generation, or impulse conduction.Heart Ventricles: The lower right and left chambers of the heart. The right ventricle pumps venous BLOOD into the LUNGS and the left ventricle pumps oxygenated blood into the systemic arterial circulation.Diffusion Tensor Imaging: The use of diffusion ANISOTROPY data from diffusion magnetic resonance imaging results to construct images based on the direction of the faster diffusing molecules.Cardiomyopathies: A group of diseases in which the dominant feature is the involvement of the CARDIAC MUSCLE itself. Cardiomyopathies are classified according to their predominant pathophysiological features (DILATED CARDIOMYOPATHY; HYPERTROPHIC CARDIOMYOPATHY; RESTRICTIVE CARDIOMYOPATHY) or their etiological/pathological factors (CARDIOMYOPATHY, ALCOHOLIC; ENDOCARDIAL FIBROELASTOSIS).Gene Targeting: The integration of exogenous DNA into the genome of an organism at sites where its expression can be suitably controlled. This integration occurs as a result of homologous recombination.Chromosomes, Human, Pair 14: A specific pair of GROUP D CHROMOSOMES of the human chromosome classification.Brain Mapping: Imaging techniques used to colocalize sites of brain functions or physiological activity with brain structures.Developmental Disabilities: Disorders in which there is a delay in development based on that expected for a given age level or stage of development. These impairments or disabilities originate before age 18, may be expected to continue indefinitely, and constitute a substantial impairment. Biological and nonbiological factors are involved in these disorders. (From American Psychiatric Glossary, 6th ed)Sturge-Weber Syndrome: A non-inherited congenital condition with vascular and neurological abnormalities. It is characterized by facial vascular nevi (PORT-WINE STAIN), and capillary angiomatosis of intracranial membranes (MENINGES; CHOROID). Neurological features include EPILEPSY; cognitive deficits; GLAUCOMA; and visual defects.Bone Marrow: The soft tissue filling the cavities of bones. Bone marrow exists in two types, yellow and red. Yellow marrow is found in the large cavities of large bones and consists mostly of fat cells and a few primitive blood cells. Red marrow is a hematopoietic tissue and is the site of production of erythrocytes and granular leukocytes. Bone marrow is made up of a framework of connective tissue containing branching fibers with the frame being filled with marrow cells.Electroretinography: Recording of electric potentials in the retina after stimulation by light.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.Retinal DiseasesMaxillofacial Abnormalities: Congenital structural deformities, malformations, or other abnormalities of the maxilla and face or facial bones.Microscopy, Electron: Microscopy using an electron beam, instead of light, to visualize the sample, thereby allowing much greater magnification. The interactions of ELECTRONS with specimens are used to provide information about the fine structure of that specimen. In TRANSMISSION ELECTRON MICROSCOPY the reactions of the electrons that are transmitted through the specimen are imaged. In SCANNING ELECTRON MICROSCOPY an electron beam falls at a non-normal angle on the specimen and the image is derived from the reactions occurring above the plane of the specimen.Cerebellum: The part of brain that lies behind the BRAIN STEM in the posterior base of skull (CRANIAL FOSSA, POSTERIOR). It is also known as the "little brain" with convolutions similar to those of CEREBRAL CORTEX, inner white matter, and deep cerebellar nuclei. Its function is to coordinate voluntary movements, maintain balance, and learn motor skills.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.Spermatozoa: Mature male germ cells derived from SPERMATIDS. As spermatids move toward the lumen of the SEMINIFEROUS TUBULES, they undergo extensive structural changes including the loss of cytoplasm, condensation of CHROMATIN into the SPERM HEAD, formation of the ACROSOME cap, the SPERM MIDPIECE and the SPERM TAIL that provides motility.Respiratory System Abnormalities: Congenital structural abnormalities of the respiratory system.Fetus: The unborn young of a viviparous mammal, in the postembryonic period, after the major structures have been outlined. In humans, the unborn young from the end of the eighth week after CONCEPTION until BIRTH, as distinguished from the earlier EMBRYO, MAMMALIAN.Autistic Disorder: A disorder beginning in childhood. It is marked by the presence of markedly abnormal or impaired development in social interaction and communication and a markedly restricted repertoire of activity and interest. Manifestations of the disorder vary greatly depending on the developmental level and chronological age of the individual. (DSM-V)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.Jaw Abnormalities: Congenital absence of or defects in structures of the jaw.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.Chromosomes, Human, 6-12 and X: The medium-sized, submetacentric human chromosomes, called group C in the human chromosome classification. This group consists of chromosome pairs 6, 7, 8, 9, 10, 11, and 12 and the X chromosome.Radiography, Thoracic: X-ray visualization of the chest and organs of the thoracic cavity. It is not restricted to visualization of the lungs.Amniocentesis: Percutaneous transabdominal puncture of the uterus during pregnancy to obtain amniotic fluid. It is commonly used for fetal karyotype determination in order to diagnose abnormal fetal conditions.Temporal Lobe: Lower lateral part of the cerebral hemisphere responsible for auditory, olfactory, and semantic processing. It is located inferior to the lateral fissure and anterior to the OCCIPITAL LOBE.Dominance, Cerebral: Dominance of one cerebral hemisphere over the other in cerebral functions.Chromosomes, Human, Pair 8: A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.Genotype: The genetic constitution of the individual, comprising the ALLELES present at each GENETIC LOCUS.Lung: Either of the pair of organs occupying the cavity of the thorax that effect the aeration of the blood.Myocardium: The muscle tissue of the HEART. It is composed of striated, involuntary muscle cells (MYOCYTES, CARDIAC) connected to form the contractile pump to generate blood flow.Chromosomes, Human, Pair 5: One of the two pairs of human chromosomes in the group B class (CHROMOSOMES, HUMAN, 4-5).Chromosomes, Human, Pair 1: A specific pair of human chromosomes in group A (CHROMOSOMES, HUMAN, 1-3) of the human chromosome classification.Bone and Bones: A specialized CONNECTIVE TISSUE that is the main constituent of the SKELETON. The principle cellular component of bone is comprised of OSTEOBLASTS; OSTEOCYTES; and OSTEOCLASTS, while FIBRILLAR COLLAGENS and hydroxyapatite crystals form the BONE MATRIX.Cognition Disorders: Disturbances in mental processes related to learning, thinking, reasoning, and judgment.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)Aging: The gradual irreversible changes in structure and function of an organism that occur as a result of the passage of time.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)Turner Syndrome: A syndrome of defective gonadal development in phenotypic females associated with the karyotype 45,X (or 45,XO). Patients generally are of short stature with undifferentiated GONADS (streak gonads), SEXUAL INFANTILISM, HYPOGONADISM, webbing of the neck, cubitus valgus, elevated GONADOTROPINS, decreased ESTRADIOL level in blood, and CONGENITAL HEART DEFECTS. NOONAN SYNDROME (also called Pseudo-Turner Syndrome and Male Turner Syndrome) resembles this disorder; however, it occurs in males and females with a normal karyotype and is inherited as an autosomal dominant.Chromosomes, Human, Pair 3: A specific pair of human chromosomes in group A (CHROMOSOMES, HUMAN, 1-3) of the human chromosome classification.Organ Size: The measurement of an organ in volume, mass, or heaviness.Metabolic Diseases: Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)Fetal Death: Death of the developing young in utero. BIRTH of a dead FETUS is STILLBIRTH.Chromosome Mapping: Any method used for determining the location of and relative distances between genes on a chromosome.Chromosomes, Human, Pair 12: A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.Embryo, Mammalian: The entity of a developing mammal (MAMMALS), generally from the cleavage of a ZYGOTE to the end of embryonic differentiation of basic structures. For the human embryo, this represents the first two months of intrauterine development preceding the stages of the FETUS.Neural Conduction: The propagation of the NERVE IMPULSE along the nerve away from the site of an excitation stimulus.Skin: The outer covering of the body that protects it from the environment. It is composed of the DERMIS and the EPIDERMIS.Animals, Newborn: Refers to animals in the period of time just after birth.Leukemia, Myeloid, Acute: Clonal expansion of myeloid blasts in bone marrow, blood, and other tissue. Myeloid leukemias develop from changes in cells that normally produce NEUTROPHILS; BASOPHILS; EOSINOPHILS; and MONOCYTES.Echoencephalography: Use of reflected ultrasound in the diagnosis of intracranial pathologic processes.Frontal Lobe: The part of the cerebral hemisphere anterior to the central sulcus, and anterior and superior to the lateral sulcus.Microcephaly: A congenital abnormality in which the CEREBRUM is underdeveloped, the fontanels close prematurely, and, as a result, the head is small. (Desk Reference for Neuroscience, 2nd ed.)Genes, Recessive: Genes that influence the PHENOTYPE only in the homozygous state.Observer Variation: The failure by the observer to measure or identify a phenomenon accurately, which results in an error. Sources for this may be due to the observer's missing an abnormality, or to faulty technique resulting in incorrect test measurement, or to misinterpretation of the data. Two varieties are inter-observer variation (the amount observers vary from one another when reporting on the same material) and intra-observer variation (the amount one observer varies between observations when reporting more than once on the same material).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."Eye Diseases: Diseases affecting the eye.Ventricular Dysfunction, Left: A condition in which the LEFT VENTRICLE of the heart was functionally impaired. This condition usually leads to HEART FAILURE; MYOCARDIAL INFARCTION; and other cardiovascular complications. Diagnosis is made by measuring the diminished ejection fraction and a depressed level of motility of the left ventricular wall.Sensation Disorders: Disorders of the special senses (i.e., VISION; HEARING; TASTE; and SMELL) or somatosensory system (i.e., afferent components of the PERIPHERAL NERVOUS SYSTEM).Liver: A large lobed glandular organ in the abdomen of vertebrates that is responsible for detoxification, metabolism, synthesis and storage of various substances.Hypertension: Persistently high systemic arterial BLOOD PRESSURE. Based on multiple readings (BLOOD PRESSURE DETERMINATION), hypertension is currently defined as when SYSTOLIC PRESSURE is consistently greater than 140 mm Hg or when DIASTOLIC PRESSURE is consistently 90 mm Hg or more.Transcription Factors: Endogenous substances, usually proteins, which are effective in the initiation, stimulation, or termination of the genetic transcription process.Mouth Abnormalities: Congenital absence of or defects in structures of the mouth.Gene Rearrangement: The ordered rearrangement of gene regions by DNA recombination such as that which occurs normally during development.Bone Diseases, DevelopmentalChromosomes, Human, X: The human female sex chromosome, being the differential sex chromosome carried by half the male gametes and all female gametes in humans.Ultrasonography: The visualization of deep structures of the body by recording the reflections or echoes of ultrasonic pulses directed into the tissues. Use of ultrasound for imaging or diagnostic purposes employs frequencies ranging from 1.6 to 10 megahertz.Myocardial Contraction: Contractile activity of the MYOCARDIUM.Malformations of Cortical Development: Abnormalities in the development of the CEREBRAL CORTEX. These include malformations arising from abnormal neuronal and glial CELL PROLIFERATION or APOPTOSIS (Group I); abnormal neuronal migration (Group II); and abnormal establishment of cortical organization (Group III). Many INBORN METABOLIC BRAIN DISORDERS affecting CNS formation are often associated with cortical malformations. They are common causes of EPILEPSY and developmental delay.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.Imaging, Three-Dimensional: The process of generating three-dimensional images by electronic, photographic, or other methods. For example, three-dimensional images can be generated by assembling multiple tomographic images with the aid of a computer, while photographic 3-D images (HOLOGRAPHY) can be made by exposing film to the interference pattern created when two laser light sources shine on an object.Vaginal Smears: Collection of pooled secretions of the posterior vaginal fornix for cytologic examination.Chromosomes, Human, Pair 21: A specific pair of GROUP G CHROMOSOMES of the human chromosome classification.Foot Deformities, Congenital: Alterations or deviations from normal shape or size which result in a disfigurement of the foot occurring at or before birth.Skull: The SKELETON of the HEAD including the FACIAL BONES and the bones enclosing the BRAIN.Pregnancy Trimester, Second: The middle third of a human PREGNANCY, from the beginning of the 15th through the 28th completed week (99 to 196 days) of gestation.Behavior, Animal: The observable response an animal makes to any situation.Gene Expression: The phenotypic manifestation of a gene or genes by the processes of GENETIC TRANSCRIPTION and GENETIC TRANSLATION.Mice, Neurologic Mutants: Mice which carry mutant genes for neurologic defects or abnormalities.Body Weight: The mass or quantity of heaviness of an individual. It is expressed by units of pounds or kilograms.Movement Disorders: Syndromes which feature DYSKINESIAS as a cardinal manifestation of the disease process. Included in this category are degenerative, hereditary, post-infectious, medication-induced, post-inflammatory, and post-traumatic conditions.Embryonic and Fetal Development: Morphological and physiological development of EMBRYOS or FETUSES.Growth Disorders: Deviations from the average values for a specific age and sex in any or all of the following: height, weight, skeletal proportions, osseous development, or maturation of features. Included here are both acceleration and retardation of growth.Nerve Tissue ProteinsBlood Pressure: PRESSURE of the BLOOD on the ARTERIES and other BLOOD VESSELS.Ploidies: The degree of replication of the chromosome set in the karyotype.Chromosomes, Human, 13-15: The medium-sized, acrocentric human chromosomes, called group D in the human chromosome classification. This group consists of chromosome pairs 13, 14, and 15.Signal Transduction: The intracellular transfer of information (biological activation/inhibition) through a signal pathway. In each signal transduction system, an activation/inhibition signal from a biologically active molecule (hormone, neurotransmitter) is mediated via the coupling of a receptor/enzyme to a second messenger system or to an ion channel. Signal transduction plays an important role in activating cellular functions, cell differentiation, and cell proliferation. Examples of signal transduction systems are the GAMMA-AMINOBUTYRIC ACID-postsynaptic receptor-calcium ion channel system, the receptor-mediated T-cell activation pathway, and the receptor-mediated activation of phospholipases. Those coupled to membrane depolarization or intracellular release of calcium include the receptor-mediated activation of cytotoxic functions in granulocytes and the synaptic potentiation of protein kinase activation. Some signal transduction pathways may be part of larger signal transduction pathways; for example, protein kinase activation is part of the platelet activation signal pathway.Vision Disorders: Visual impairments limiting one or more of the basic functions of the eye: visual acuity, dark adaptation, color vision, or peripheral vision. These may result from EYE DISEASES; OPTIC NERVE DISEASES; VISUAL PATHWAY diseases; OCCIPITAL LOBE diseases; OCULAR MOTILITY DISORDERS; and other conditions (From Newell, Ophthalmology: Principles and Concepts, 7th ed, p132).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)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.Autopsy: Postmortem examination of the body.Cerebral Ventricles: Four CSF-filled (see CEREBROSPINAL FLUID) cavities within the cerebral hemispheres (LATERAL VENTRICLES), in the midline (THIRD VENTRICLE) and within the PONS and MEDULLA OBLONGATA (FOURTH VENTRICLE).

A Wnt5a pathway underlies outgrowth of multiple structures in the vertebrate embryo. (1/3131)

Morphogenesis depends on the precise control of basic cellular processes such as cell proliferation and differentiation. Wnt5a may regulate these processes since it is expressed in a gradient at the caudal end of the growing embryo during gastrulation, and later in the distal-most aspect of several structures that extend from the body. A loss-of-function mutation of Wnt5a leads to an inability to extend the A-P axis due to a progressive reduction in the size of caudal structures. In the limbs, truncation of the proximal skeleton and absence of distal digits correlates with reduced proliferation of putative progenitor cells within the progress zone. However, expression of progress zone markers, and several genes implicated in distal outgrowth and patterning including Distalless, Hoxd and Fgf family members was not altered. Taken together with the outgrowth defects observed in the developing face, ears and genitals, our data indicates that Wnt5a regulates a pathway common to many structures whose development requires extension from the primary body axis. The reduced number of proliferating cells in both the progress zone and the primitive streak mesoderm suggests that one function of Wnt5a is to regulate the proliferation of progenitor cells.  (+info)

The homeobox gene Pitx2: mediator of asymmetric left-right signaling in vertebrate heart and gut looping. (2/3131)

Left-right asymmetry in vertebrates is controlled by activities emanating from the left lateral plate. How these signals get transmitted to the forming organs is not known. A candidate mediator in mouse, frog and zebrafish embryos is the homeobox gene Pitx2. It is asymmetrically expressed in the left lateral plate mesoderm, tubular heart and early gut tube. Localized Pitx2 expression continues when these organs undergo asymmetric looping morphogenesis. Ectopic expression of Xnr1 in the right lateral plate induces Pitx2 transcription in Xenopus. Misexpression of Pitx2 affects situs and morphology of organs. These experiments suggest a role for Pitx2 in promoting looping of the linear heart and gut.  (+info)

Family study of inherited syndrome with multiple congenital deformities: symphalangism, carpal and tarsal fusion, brachydactyly, craniosynostosis, strabismus, hip osteochondritis. (3/3131)

A syndrome of brachydactyly (absence of some middle or distal phalanges), aplastic or hypoplastic nails, symphalangism (ankylois of proximal interphalangeal joints), synostosis of some carpal and tarsal bones, craniosynostosis, and dysplastic hip joints is reported in five members of an Italian family. It may represent a previously undescribed autosomal dominant trait.  (+info)

Amelioration of TCDD-induced teratogenesis in aryl hydrocarbon receptor (AhR)-null mice. (4/3131)

The aryl hydrocarbon receptor (AhR) mediates many of the biological effects of 2,3,7,8-tetrachlorodibenzo-p-dioxin (TCDD) and transcriptional activation of genes encoding a number of xenobiotic metabolizing enzymes. Prenatal exposure of mice to TCDD causes severe alterations in embryo and fetal development, including hydronephrosis and cleft palate. However, the mechanisms underlying these effects are unclear. In this work, the teratogenicity of TCDD in AhR-null mice was evaluated to determine if this effect is mediated by the AhR. Homozygous wild-type (+/+) or AhR-null (-/-) female mice were mated with males of the same genotype overnight. On gestation day (GD)-10, mice were intubated orally with either corn oil (vehicle control) or 25 micrograms/kg TCDD. Fetuses were examined on GD18 for visceral and skeletal alterations. For non-TCDD-exposed litters, all developmental endpoints were comparable between genotypes, with the exception of a lower incidence of large interfrontal bones in (-/-) mice. For TCDD-exposed litters, (+/+) fetuses had a significantly greater incidence of cleft palate, hydronephrosis, small kidneys, tortuous ureters and greater dilation of the renal pelves and ureters compared to (-/-) fetuses. Interestingly, an increased resorption rate was observed in (-/-) fetuses exposed to TCDD. Results from this work demonstrate that fetal development per se is generally unaffected by the absence of the AhR or that other genes may have compensated for the loss of the AhR. More importantly, these data indicate that the AhR mediates TCDD-induced teratogenicity. Further, since a higher percentage of resorptions was observed in (-/-) litters from TCDD-treated dams, it is possible that AhR-independent mechanisms contribute to TCDD-induced developmental toxicity.  (+info)

Townes-Brocks syndrome. (5/3131)

Townes-Brocks syndrome (TBS) is an autosomal dominant disorder with multiple malformations and variable expression. Major findings include external ear anomalies, hearing loss, preaxial polydactyly and triphalangeal thumbs, imperforate anus, and renal malformations. Most patients with Townes-Brocks syndrome have normal intelligence, although mental retardation has been noted in a few.  (+info)

A new lethal syndrome of exomphalos, short limbs, and macrogonadism. (6/3131)

We report a new lethal multiple congenital abnormality (MCA) syndrome of exomphalos, short limbs, nuchal web, macrogonadism, and facial dysmorphism in seven fetuses (six males and one female) belonging to three unrelated families. X rays showed enlarged and irregular metaphyses with a heterogeneous pattern of mineralisation of the long bones. Pathological examination showed adrenal cytomegaly, hyperplasia of Leydig cells, ovarian stroma cells, and Langherans cells, and renal microcysts. We suggest that this condition is a new autosomal recessive MCA syndrome different from Beckwith-Wiedemann syndrome, especially as no infracytogenetic deletion or uniparental disomy of chromosome 11 was found.  (+info)

Isolation and embryonic expression of the novel mouse gene Hic1, the homologue of HIC1, a candidate gene for the Miller-Dieker syndrome. (7/3131)

The human gene HIC1 (hypermethylated in cancer) maps to chromosome 17p13.3 and is deleted in the contiguous gene disorder Miller-Dieker syndrome (MDS) [Makos-Wales et al. (1995) Nature Med., 1, 570-577; Chong et al. (1996) Genome Res., 6, 735-741]. We isolated the murine homologue Hic1, encoding a zinc-finger protein with a poxvirus and zinc-finger (POZ) domain and mapped it to mouse chromosome 11 in a region exhibiting conserved synteny to human chromosome 17. Comparison of genomic and cDNA sequences predicts two exons for the murine Hic1. The second exon exhibits 88% identity to the human HIC1 on DNA level. During embryonic development, Hic1 is expressed in mesenchymes of the sclerotomes, lateral body wall, limb and cranio-facial regions embedding the outgrowing peripheral nerves during their differentiation. During fetal development, Hic1 additionally is expressed in mesenchymes apposed to precartilaginous condensations, at many interfaces to budding epithelia of inner organs, and weakly in muscles. We observed activation of Hic1 expression in the embryonic anlagen of many tissues displaying anomalies in MDS patients. Besides lissencephaly, MDS patients exhibit facial dysmorphism and frequently additional birth defects, e.g. anomalies of the heart, kidney, gastrointestinal tract and the limbs (OMIM 247200). Thus, HIC1 activity may correlate with the defective development of the nose, jaws, extremities, gastrointestinal tract and kidney in MDS patients.  (+info)

Comparison of prenatal ultrasound and postmortem findings in fetuses and infants with congenital heart defects. (8/3131)

OBJECTIVE: Detection of congenital heart defects by prenatal ultrasound examination has been one of the great challenges since the investigation for fetal anomalies became part of the routine fetal examination. This prospective study was designed to evaluate the concordance of prenatal ultrasound findings with autopsy examination in a population consisting of both referred women and non-selected pregnant women. DESIGN: Criteria for inclusion were an ultrasound examination at the National Center for Fetal Medicine and an autopsy performed during the years 1985-94. Results from the ultrasound and autopsy examinations were systematized into categories depending on the degree of concordance. RESULTS: Of 408 infants and fetuses with developmental anomalies, 106 (26%) had congenital heart defects. In 63 (59%) of these 106 cases, the heart defect was the principal reason for the termination of pregnancy or the cause of death. Excluding five cases with a secundum atrial septal defect, there was complete agreement between the ultrasound examination and the autopsy findings in 74 (73%) of 101 cases. In 18 cases, there were minor discrepancies between ultrasound and autopsy findings. The main diagnosis was thus correct in 92 cases (91%). From the first time period (1985-89) to the second (1990-94), the detection rate of all heart defects increased from 48% to 82%. CONCLUSION: This study confirms a good correlation between ultrasound and autopsy diagnoses in fetuses and infants with congenital heart defects. A significant improvement in the detection of heart defects occurred from the first time period to the second and was probably due to increased experience and technical advances.  (+info)

An infant with an interstitial deletion 46,XY, del(9)(pter leads to q22::q32 leads to qter) is described. Clinical features included abnormal craniofacies with hypotelorism, narrow palpebral fissures, sclerocornea, deep vertical groove, and supraorbital ridge hypoplasia. There was unilateral preaxial polydactyly and toe syndactyly. Generalised hirsutism was noted. The infant had surgery for duodenal atresia but died at the age of 3 months. Unilateral renal dysplasia and accessory spleens were found at necropsy.. ...
Background Kabuki syndrome is a multiple congenital anomaly/mental retardation syndrome. The syndrome is characterized by varying degrees of mental retardation, postnatal growth retardation, distinct...
Free, official coding info for 2020 ICD-10-CM O35.0XX9 - includes detailed rules, notes, synonyms, ICD-9-CM conversion, index and annotation crosswalks, DRG grouping and more.
Fissured Tongue & Low Set Ears Symptom Checker: Possible causes include Down Syndrome. Check the full list of possible causes and conditions now! Talk to our Chatbot to narrow down your search.
Mowat-Wilson syndrome (MWS) is a multiple congenital anomaly syndrome characterized by a distinct facial phenotype (high forehead, frontal bossing, large eyebrows, medially flaring and sparse in the...
My state (Tripura) originally had a mostly mongoloid-feature-possessing population (ethnic group: Tripuri). Recently a large number of non-mongoloid people (ethnic group: Bengali) have migrated to Tripura. Assuming that reproductive barriers are not present between these two subpopulations in future, are epicanthic folds likely to be a prominent feature of the new hybridized population?. Ive found some non-scientific discussions here and here.. In this newspaper article, an anthropologist is cited as saying the following:. ...
Results and conclusions: 45 patients all with proven centromeric instability were included in this study. Facial dysmorphism was found to be a common characteristic (n = 41/42), especially epicanthic folds, hypertelorism, flat nasal bridge and low set ears. Hypo- or agammaglobulinaemia was demonstrated in nearly all patients (n = 39/44). Opportunistic infections were seen in several patients, pointing to a T cell dysfunction. Haematological malignancy was documented in two patients. Life expectancy of ICF patients is poor, especially those with severe infections in infancy or chronic gastrointestinal problems and failure to thrive. Early diagnosis of ICF is important since early introduction of immunoglobulin supplementation can improve the course of the disease. Allogeneic stem cell transplantation should be considered as a therapeutic option in patients with severe infections or failure to thrive. Only 19 of 34 patients showed mutations in DNMT3B, suggesting genetic heterogeneity. No ...
TY - JOUR. T1 - Complex chromosome rearrangements. Report of a new case and literature review. AU - Pai, G. S.. AU - Thomas, G. H.. AU - Mahoney, W.. AU - Migeon, Barbara R. PY - 1980. Y1 - 1980. N2 - A complex and unique, apparently balanced translocation involving three autosomes and an X in a phenotypically abnormal child is described. Family studies using glucose 6 phosphate dehydrogenase as a marker provided biochemical evidence of non-random expression of this Xq locus and suggested that this de novo abnormality in the proband could be paternal in origin - the first such instance to be recorded.. AB - A complex and unique, apparently balanced translocation involving three autosomes and an X in a phenotypically abnormal child is described. Family studies using glucose 6 phosphate dehydrogenase as a marker provided biochemical evidence of non-random expression of this Xq locus and suggested that this de novo abnormality in the proband could be paternal in origin - the first such instance to ...
List of causes of Cysts and Jaw symptoms and Long philtrum, alternative diagnoses, rare causes, misdiagnoses, patient stories, and much more.
Analysis of results of treatment without-of-spine-based implants in patients with multiple congenital anomalies of the spine and thorax
Larsen Syndrome shows as multiple congenital dislocations and characteristic facies (prominent forehead, depressed nasal bridge, wide-spaced eyes); also clubfoot, bilateral dislocation of elbows, hips and knees (most characteristically, anterior dislocation of the tibia on the femur), and short metacarpals with cylindrical fingers lacking the usual tapering. Cleft palate, hydrocephalus, and abnormalities of spinal segmentation are found in some.
In 1872, C.V Tomes coined the term "adenoid faces" to describe the long lean mid-face with high arched palate and dental crowding present in children with chronic nasal airway obstruction. Traditionally, orthodontists and pediatric dentists are heavily relied upon to correct these predictable and often-avoidable facial changes; however, there are preventative measures that can be highly effective for these children. At CornerStone Ear, Nose & Throat we believe that a proactive approach, particularly in children from 18 months to four … Continued. ...
The content in this site is for informational use and is not a substitute for professional advice. Always check with a qualified professional for healthcare information, treatment advice and/or diagnosis. Terms and Conditions ...
When a young adult, a pregnant woman, or an immune-compromised person has flu-like symptoms that suggest a CMV infection; when a newborn has multiple congenital abnormalities, unexplained jaundice or anemia, and/or when an infant has seizures or developmental problems that may be due to CMV; prior to receiving an organ ...
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As with the ability to hear, the ability to see may vary in degree of impairment from minor anomalies of sight which impose, especially with the use of corrective lens, little or no inconvenience, to...
Definition: ACC is the failure of formation or decussation of the corticocortical fibers. ACC may be an isolated feature or associated with other malformations.. ...
The gemstone on this flat back stud is set in a low martini style setting which is designed to sit flat in your piercing without looking bulky. If youre looking for a dainty piece for your piercing, then the 2mm is just as beautiful as the large 3mm stone, but is a little more discrete. The smooth disc backing a grea
My son of 44 yrs of age,married father if 7 yr old boy and 1 yr old girl. Recently lost his warehouse job - Answered by a verified Mental Health Professional
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So my friend has 2 kids - a 12 year old girl and a 10 year old boy. As a family, they take two weeks off during the summer. For the other 6 plus weeks, she plan.... ...
hey, im a 15 year old girl and since yesterday evening ive been having these symptoms. i have to pee frequently and whenever i do only a few drops come out, or a small portion at best. theres blood in my urine and i feel a mild pain and discomfort whenever i pee. please tell me what this is if you know. also i had sex the same day. not the first time but longer than before. could that be to blame??. Reply Follow This Thread Stop Following This Thread Flag this Discussion ...
We work toward taking responsibility for our own lives, rather than giving advice to others. I liked things organized and tidy even as a 9 year old girl.
SUMMARY Wolf-Hirschhorn syndrome (WHS) is caused by deletions in the short arm of chromosome 4 (4p) and occurs in about one per 20,000 births. Patients with WHS display a set of highly variable characteristics including craniofacial dysgenesis, mental retardation, speech problems, congenital heart defects, short stature and a variety of skeletal anomalies. Analysis of patients with 4p deletions has identified two WHS critical regions (WHSCRs); however, deletions targeting mouse WHSCRs do not recapitulate the classical WHS defects, and the genes contributing to WHS have not been conclusively established. Recently, the human FGFRL1 gene, encoding a putative fibroblast growth factor (FGF) decoy receptor, has been implicated in the craniofacial phenotype of a WHS patient. Here, we report that targeted deletion of the mouse Fgfrl1 gene recapitulates a broad array of WHS phenotypes, including abnormal craniofacial development, axial and appendicular skeletal anomalies, and congenital heart defects. ...
Rationale: Chromosomal rearrangements are the major cause of multiple congenital abnormalities and intellectual disability. reports of similar aberrations and discuss possible functional effects of genes included in the deleted and/or duplicated regions. Partial trisomy 1q/monosomy 21q has only been reported once before, and this is the first Rabbit Polyclonal to DNA Polymerase lambda report of partial monosomy 1q/trisomy 21q. The expressed phenotype of mirroring chromosomal aberrations in our patients supports the previous suggestion that this dosage effect of some of the genes included in deleted/duplicated regions may result in opposite phenotypes of the patients. Patient (Fig. ?(Fig.1III.4.1III.4. A and III.4. B), currently a 10-year-old, is a first female child of young, nonconsanguineous parents with complicated family history (Fig. ?(Fig.1).1). Her birth weight was 3550?g (50th centile), birth length 53?cm (50th centile), occipitofrontal circumference (OFC) 37?cm (97th centile), and Apgar ...
Kabuki Syndrome. Kabuki syndrome is a rare, multisystem disorder characterized by multiple abnormalities including distinctive facial features, growth delays, varying degrees of intellectual disability, skeletal abnormalities, and short stature.The specific symptoms associated with Kabuki syndrome can vary greatly from one person to another. The first gene is KMT2D (formerly MLL2) and the second gene, which accounts for fewer cases of Kabuki syndrome, is KDM6A. Clinical genetic testing is available for both genes. Kabuki syndrome was first reported in medical literature in 1981 by Japanese physicians. The disorder was originally called Kabuki-makeup syndrome because the facial features of many affected children resembled the makeup used by actors in kabuki, a form of Japanese theater. The term "makeup" has since been dropped and the preferred term for the disorder is Kabuki syndrome.. Signs and Symptoms Some symptoms of Kabuki syndrome are present at birth (congenital). Other symptoms become ...
TY - JOUR. T1 - Patients with a Kabuki syndrome phenotype demonstrate DNA methylation abnormalities. AU - Sobreira, Nara. AU - Brucato, Martha. AU - Zhang, Li. AU - Ladd-Acosta, Christine Marie. AU - Ongaco, Chrissie. AU - Romm, Jane. AU - Doheny, Kimberly. AU - Mingroni-Netto, Regina C.. AU - Bertola, Debora. AU - Kim, Chong A.. AU - Perez, Ana Ba. AU - Melaragno, Maria I.. AU - Valle, David. AU - Meloni, Vera A.. AU - Bjornsson, Hans Tomas. PY - 2017/12/1. Y1 - 2017/12/1. N2 - Kabuki syndrome is a monogenic disorder caused by loss of function variants in either of two genes encoding histone-modifying enzymes. We performed targeted sequencing in a cohort of 27 probands with a clinical diagnosis of Kabuki syndrome. Of these, 12 had causative variants in the two known Kabuki syndrome genes. In 2, we identified presumptive loss of function de novo variants in KMT2A (missense and splice site variants), a gene that encodes another histone modifying enzyme previously exclusively associated with ...
13:Verloes et al. (1992)} described a rare variant of frontonasal dysplasia (see FND1, {136760}), designated acromelic frontonasal dysplasia (AFND), in which similar craniofacial anomalies are associated with variable central nervous system malformations and limb defects including tibial hypoplasia/aplasia, talipes equinovarus, and preaxial polydactyly of the feet ...
A 7 year old male child with cleft soft palate, omphalocele, epispedias, posterior prominence of the skull, prominent forehead with high anterior hair line, dextraposition of the heart, right sided inguinal hernia, mental retardation, generalized hypotonia and flexion deformity of both toes and fingers presented to the paediatric clinic, Teaching Hospital Karapitiya, for the follow up management. Furthermore, the child had subtle dysmorphic features including, broad nasal bridge, hypertelorism and low set ears. He was the second child of the family and there were no other family history of congenital anomalies. The karyotype was 46XY. Mutations in chromosome bands 3p12-21, ZIC3 gene in human X chromosome and Wolf- Hirschhorn syndrome involving heterozygous deletion of 4p16.3 region (4p syndrome) can be presented with above clinical features and it is necessary to investigate the patient further for the genetic involvement.. ...
Parental balanced reciprocal translocations can result in partial aneuploidies in the offspring due to unbalanced meiotic segregation during gametogenesis. Herein, we report the phenotypic and molecular cytogenetic characterization of a 2 years and 4 months old female child with partial trisomy 7q22 → qter. This is the first such reported case resulting from a parental balanced translocation involving the long arms of chromosomes 7 and 14. The phenotype of the proband was compared with that of previously reported cases of trisomy 7q21 → qter or 7q22 → qter resulting from parental balanced translocations. The proband was born pre-term to a 34-year-old mother with a history of two first trimester miscarriages and an early infant death. She was referred at the age of 8 months for genetic evaluation due to prenatal and postnatal growth retardation, developmental delay and multiple congenital anomalies. On clinical evaluation, she had craniofacial dysmorphic features such as scaphocephaly, large
Pallister Killian syndrome (PKS, OMIM 601803) is a rare genetic disorder with a distinct phenotype caused by tissue- limited mosaicism tetrasomy of the short arm of chromosome 12, which usually cytogenetically presents as an extra isochromosome 12p. Wide phenotypic variability in PKS has been reported, ranging from pre-to perinatal death due to multiple congenital anomalies, especially diaphragmatic hernia, and classic phenotypes including seizures, severe developmental delay, macrosomia at birth, deafness, and distinct dysmorphic features, such as coarse face, temporal alopecia, a small nose with anteverted nostrils, long philtrum, and hypo−/hyper- pigmented streaks on the skin. Karyotypes obtained from cultured peripheral lymphocytes of 13 cases, who were diagnosed as PKS, were normal, while karyotypes obtained from cultured skin samples and buccal mucosa revealed the supernumerary mosaic i(12p). Mosaic karyotype was found in both fibroblast and buccal mucosa in 14 of 15 patients in our series,
Bethesda, Md., Sun., Aug. 15, 2010 - Using a new, rapid and less expensive DNA sequencing strategy, scientists have discovered genetic alterations that account for most cases of Kabuki syndrome, a rare disorder that causes multiple birth defects and mental retardation. Instead of sequencing the entire human genome, the new approach sequences just the exome, the 1-2 percent of the human genome that contains protein-coding genes.. Kabuki syndrome, which has an estimated incidence of 1 in 32,000 births, was originally described by Japanese scientists in 1981. Patients with the disorder often have distinct facial features that resemble the make-up worn by actors of Kabuki, a Japanese theatrical form.. The work, published in todays advanced online edition of Nature Genetics, was carried out by scientists at the University of Washington in Seattle as part of a larger effort to use second generation DNA sequencing technologies in new ways to identify genes for rare disorders. The project is funded ...
From NCBI Gene:. This gene encodes a regulatory subunit of the SMG1 complex, which plays a critical role in nonsense-mediated mRNA decay (NMD). Binding of the encoded protein to the SMG1 complex kinase scaffold protein results in the inhibition of its kinase activity. Mutations in this gene cause a multiple congenital anomaly syndrome in human patients, characterized by brain malformation, congenital heart disease and other features. [provided by RefSeq, Jul 2016]. From UniProt: ...
TY - JOUR. T1 - MLL2 Mutation Spectrum in 45 Patients with Kabuki Syndrome. AU - Paulussen, Aimee D. C.. AU - Stegmann, Alexander P. A.. AU - Blok, Marinus J.. AU - Tserpelis, Demis. AU - Posma-Velter, Crool. AU - Detisch, Yvonne. AU - Smeets, Eric E. J. G. L.. AU - Wagemans, Annemieke M. A.. AU - Schrander, Jaap J. P.. AU - van den Boogaard, Marie Jose H.. AU - van der Smagt, Jasper J.. AU - van Haeringen, Arie. AU - Stolte-Dijkstra, Irene. AU - Kerstjens-Frederikse, Wilhelmina S.. AU - Mancini, Grazia M. S.. AU - Wessels, Marja W.. AU - Hennekam, Raoul C. M.. AU - Vreeburg, Maaike. AU - Geraedts, Joep. AU - de Ravel, Thomy. AU - Fryns, Jean-Pierre. AU - Smeets, Hubert J T. AU - Devriendt, Koenraad. AU - Schrander-Stumpel, Constance T. R. M.. PY - 2011/2. Y1 - 2011/2. KW - Kabuki syndrome. KW - KS. KW - MLL2. KW - histone methyl transferase. U2 - 10.1002/humu.21416. DO - 10.1002/humu.21416. M3 - Article. VL - 32. SP - E2018-E2025. JO - Human Mutation. JF - Human Mutation. SN - 1059-7794. IS - ...
Chromosomal abnormalities have been identified as the main cause of developmental delay, mental retardation, autistic spectrum disorders as well as multiple congenital abnormalities. Until recently, the only available method of detecting chromosomal abnormalities was conventional G-banding karyotype, which screens all chromosomes for aneuploidy and segmental lesions up to the limit of 5-10 Mb.. Chromosomal microarray analysis with molecular karyotype (aCGH) is a new method that enables the detection of chromosomal abnormalities that are accompanied by a change in the copy number of genetic loci (aneuploidy, deletions, duplications) across the entire genome of a patient, with an effective resolution of up to 50Kb.. Numerous studies have shown the benefits of applying molecular karyotype to patients with developmental delay and multiple congenital abnormalities of unknown etiology, leading to the establishment of molecular karyotype as the first tier test for these patients. In particular, it has ...
kabuki syndrome - I am from south Africa and i have a son with kabuki syndrome. I want to know if there is other moms with kids with this...
List of causes of Ankle symptoms and Movement symptoms and Prominent forehead, alternative diagnoses, rare causes, misdiagnoses, patient stories, and much more.
Just had my 20 week scan today (19+6), which showed several suspected abnormalities. First they identified a 2 vessel cord vs 3. Apparently this isn
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Geleophysic dysplasia-1 is an autosomal recessive disorder characterized by severe short stature, short hands and feet, joint limitations, and skin thickening. Radiologic features include delayed bone age, cone-shaped epiphyses, shortened long tubular bones, and ovoid vertebral bodies. Affected individuals have characteristic facial features including a happy face with full cheeks, shortened nose, hypertelorism, long and flat philtrum, and thin upper lip. Other distinctive features include progressive cardiac valvular thickening often leading to an early death, toe walking, tracheal stenosis, respiratory insufficiency, and lysosomal-like storage vacuoles in various tissues (summary by {3:Le Goff et al., 2011 ...
Geleophysic dysplasia 1 (GPHYSD1) [MIM:231050]: An autosomal recessive disorder characterized by severe short stature, short hands and feet, joint limitations, and skin thickening. Radiologic features include delayed bone age, cone-shaped epiphyses, shortened long tubular bones, and ovoid vertebral bodies. Affected individuals have characteristic facial features including a happy face with full cheeks, shortened nose, hypertelorism, long and flat philtrum, and thin upper lip. Other distinctive features include progressive cardiac valvular thickening often leading to an early death, toe walking, tracheal stenosis, respiratory insufficiency, and lysosomal-like storage vacuoles in various tissues. {ECO:0000269,PubMed:18677313, ECO:0000269,PubMed:21415077}. Note=The disease is caused by mutations affecting the gene represented in this entry ...
Hydranencephaly is a rare central nervous system malformation that results in the near absence of the cerebral hemispheres, the thinking portion of the brain. They are replaced by sacs filled with cerebrospinal fluid.
A case is described in which it was found at autopsy that the umbilical cord of a macerated stillborn infant had four patent vessels (two arteries and two veins) throughout its length. This was due to a rare persistence of the caudal portion of the right umbilical vein. The infant had multiple congenital anomalies including complete thoracic ectopia cordis, a symmetrical bifid liver, severe bilateral cleft lip and palate with absent soft palate and uvula , and cecum mobile. The autopsy findings are detailed and the relevant literature and embryology briefly discussed.
The SET domain containing 5 gene (SETD5) encodes the SET domain-containing protein 5 and has been reported to be associated with intellectual disability (ID), language delay, and dysmorphic features. Previously reported individuals with SETD5 alterations have been described with psychiatric/behavioral anomalies such as autism (ASD) and stererotypic behaviors, gastrointestinal abnormalities. Craniofacial abnormalities such as low posterior hairline, nasal abnormalities, upslanting/ downslanting palpebral fissures, long and smooth philtrum, thin upper lip, and ear abnormalities have also been described.. ...
Objective This study describes 5 novel variants of 7 KMT2D/KDM6A gene and summarizes the clinical manifestations and the mutational spectrum of 47 Chinese Kabuki syndrome (KS) patients.
Notice: This site is no longer being actively maintained. While much of the information is still relevant, some of it has become out-of-date.. There are several Facebook groups. Just search "Kabuki syndrome" from within Facebook.. For a current site see one of the following:. http://allthingskabuki.org ...
Notice: This site is no longer being actively maintained. While much of the information is still relevant, some of it has become out-of-date.. There are several Facebook groups. Just search "Kabuki syndrome" from within Facebook.. For a current site see one of the following:. http://allthingskabuki.org ...
Facial abnormalities: small eye openings; skin webbing between eyes and base of nose; drooping eyelids; nearsightedness; failure of eyes to move in same direction; short upturned nose; sunken nasal bridge; flat or absent groove between nose and upper lip; thin upper lip; opening in roof of mouth; small jaw; low-set or poorly formed ears. ...
A baby girl was delivered by caesarean section at 39 weeks after unsuccessful attempts at vacuum extraction vaginal delivery. Her Apgar scores were 3 and 9 at one and five minutes, respectively. Resuscitation measures included bag mask manual ventilation for bradypnoea, bradycardia, cyanosis, and generalised hypotonia. She recovered promptly and was clinically stable.. The mother was a primigravida and the pregnancy was uneventful. The parents were non-consanguineous and declared no medical family history of note. Maternal serology tests were negative, as was Streptococcus group B screening. The antenatal ultrasound scans were normal.. Examination of the newborn showed persistent generalised hypotonia, the presence of an expressionless face, bitemporal flattening, tent shaped upper lips, a carp mouth with a high arched palate, an abnormal receding small jaw, and mild respiratory distress (fig 1⇓). Hyporeflexia was also present. Weight, length, and head circumference measures were appropriate ...
Multiple abnormalities}}. Medicine. Congenital abnormality · multiple abnormalities (Q87, 759.7). Disease and disorder ... Multiple sclerosis and other demyelinating diseases of CNS (G35-G37, 340-341). Neurology. Footer. ... Developmental tooth disease/tooth abnormality (K00-K01, 520). Musculoskeletal disease templates. Footer. ... Congenital malformations and deformations of musculoskeletal system / musculoskeletal abnormality (Q65-Q76, 754-756.3). ...
"Congenital Abnormalities and Multiple Sclerosis". BMC Neurology. 10: 115. doi:10.1186/1471-2377-10-115. PMC 3020672. PMID ... Multiple sclerosis[edit]. Being pregnant decreases the risk of relapse in multiple sclerosis; however, during the first months ... Multiple sclerosis does not increase the risk of congenital abnormality or miscarriage.[19][20] ... Multiple Sclerosis: Pregnancy Q&A from Cleveland Clinic, retrieved January 2014. *^ Ramagopalan, S. V.; Guimond, C.; Criscuoli ...
Pregnancy Multiple gestation ( twins or triplets, etc.) Placental abnormalities: 1. Hyperplacentosis: Excessive exposure to ... CS1 maint: Multiple names: authors list (link) Duckitt, K. "Risk Factors for Pre-eclampsia at Antenatal Booking: Systematic ... CS1 maint: Multiple names: authors list (link) Chaline Jean (2003). "Increased Cranial Capacity in Hominid Evolution and ... doi:10.1016/0028-2243(93)90265-e. CS1 maint: Multiple names: authors list (link) Robertson, W. B., I. Bronsens, and G. Dixon. " ...
CS1 maint: Multiple names: authors list (link). *^ a b c d Gabbard, Glen O., Gunderson John G. (2000) Psychotherapy for ... Stone, Michael H. (1993). Abnormalities of Personality. Within and Beyond the Realm of Treatment. Norton. ISBN 978-0-393-70127- ... CS1 maint: Multiple names: authors list (link). *^ Oldham, John M.; Skodol, Andrew E.; Bender, Donna S. (2005). The American ...
CS1 maint: Multiple names: authors list (link) Jacobs PA (1979). "Recurrence risks for chromosome abnormalities". Birth Defects ... CS1 maint: Multiple names: authors list (link) Graham JM, Bashir AS, Stark RE, Silbert A, Walzer S; Bashir, AS; Stark, RE; ... CS1 maint: Multiple names: authors list (link) Boone KB, Swerdloff RS, Miller BL, Geschwind DH, Razani J, Lee A, Gonzalo IG, ... CS1 maint: Multiple names: authors list (link) Kurková S, Zemanová Z, Hána V, Mayerová K, Pacovská K, Musilová J, Stĕpán J, ...
Multiple sclerosis does not increase the risk of congenital abnormality or miscarriage. The following conditions may also ... "Congenital Abnormalities and Multiple Sclerosis". BMC Neurology. 10: 115. doi:10.1186/1471-2377-10-115. PMC 3020672 . PMID ... Asthma Seizure disorders Structural abnormalities in the cervix Structural abnormalities in the uterus Viral hepatitis Spencer ... Multiple Sclerosis: Pregnancy Q&A from Cleveland Clinic, retrieved January 2014. Ramagopalan, S. V.; Guimond, C.; Criscuoli, M ...
... genital and/or urinary abnormalities, and ear abnormalities and deafness. Although these features are no longer used in making ... Pagon RA, Graham JM, Zonana J, Yong SL (1981). "Coloboma, congenital heart disease, and choanal atresia with multiple anomalies ... Eye abnormalities have been shown to occur in over 90% of children with fetal alcohol syndrome. Other ocular malformations that ... "Eye abnormalities in fetal alcohol syndrome". Ulster Med J. 78: 164-5. Sep 2009. PMC 2773598 . PMID 19907681. ...
Multiple electrolyte abnormalities are common in ALF. Correction of hypokalemia is essential as hypokalemia increases the ...
Also skin is lightly pigmented with multiple freckles. They may have scoliosis and chest abnormalities. Affected boys have ... Their hands are short with unusual palm creases with short, shaped fingers and foot abnormalities are shortened and have fused ...
link) CS1 maint: Multiple names: authors list (link) Metoyer, K. "Adult Refsum Disease. In C. Noggle". The encyclopedia of ... 1977). "Epidermal abnormali-ties in Refsum's disease". Br J Dermatol. 97: 401-406. doi:10.1111/j.1365-2133.1977.tb14248.x. CS1 ...
Multiple mtDNA abnormalities exist which cause CPEO. One mutation is located in a conserved region of mitochondrial tRNA at ... The mtDNA that is affected maybe a single or multiple point deletion, with associated nuclear DNA deletions. One study showed ... if there is pigmentary retinopathy that may signify Kearns-Sayre syndrome which is associated with cardiac abnormalities. MRI ...
CS1 maint: Multiple names: authors list (link) Data C. Y., Liua W. M., Chena S. W., Yangb C.-A., Tunga Y. C., Chouc L. W., Lind ... "Recovery of behavioral abnormalities after right hemisphere stroke". Neurology. 33 (3): 345-350. doi:10.1212/WNL.33.3.345. CS1 ... CS1 maint: Multiple names: authors list (link) Klonoff P. S., Sheperd J. C., O'Brien K. P., Chiapello D. A., Hodak J. A. (1990 ... CS1 maint: Multiple names: authors list (link) Orfei M. D., Robinson R. G., Prigatano G. P., Starkstein S., Rüsche N., Bria P ...
Qiu J (May 2010). "Venous abnormalities and multiple sclerosis: another breakthrough claim?". Lancet Neurol. 9 (5): 464-5. doi: ... "Evidence against the involvement of chronic cerebrospinal venous abnormalities in multiple sclerosis. A case control study". ... Multiple sclerosis has been proposed as a possible outcome of CCSVI. Zamboni and colleagues claimed that in MS patients ... In 2009, the Multiple Sclerosis Society of Canada committed to funding research on the connection between CCSVI and MS, ...
j) Multiple muscular VSDs are a challenge to close, achieving a complete closure can be aided by the use of fluorescein dye. ... VSDs are the most common congenital cardiac abnormalities. They are found in 30-60% of all newborns with a congenital heart ...
CS1 maint: Multiple names: authors list (link) Kiehl, K. A., Smith, A. M., Hare, R. D., Mendrek, A., Forster, B. B., Brink, J ... Yet, the abnormalities can be detected using brain imaging and state-of-the-art analytic tools. Studies on structural ... CS1 maint: Multiple names: authors list (link) Raine, A., Ishikawa, S. S., Arce, E., Lencz, T., Knuth, K. H.; et al. (2004). " ... CS1 maint: Multiple names: authors list (link) Glenn, A. L., Raine, A. & Schug, R. A. (2009). "The neural correlates of moral ...
Shukla, V. K. S.; Clausen, J.: Linoleate and fatty acids pattern of serum lipids in Multiple Sclerosis. Acta Neurolog. Scand. ... Shukla, V. K. S.; Jensen, E.; Clausen, J. (1978). "Serum fatty acids and peroxidase abnormalities in Batten's disease". Res. ... Shukla, V. K. S.; Clausen, J. (1978). "Linoleate and fatty acids pattern of serum lipids in Multiple Sclerosis". Acta Neurolog ... Shukla, V. K. S.; Jensen, E.; Clausen, J. "Erythrocyte glutathione peroxidase deficiency in Multiple Sclerosis". Acta ...
Multiple examples of simulating are given and discussed. Simulations of madness are performed to forego punishment after ... The causes are largely explained by functional physiological abnormalities. Hallucinations of all senses: The case of Carl ... Hallucinations of smell, taste and touch: Multiple cases are given regarding hallucinations of these senses. ...
Howard, Harvey (1917-01-01). "A Case Showing Multiple Congenital Abnormalities of the Eye; the Origin of the Vitreous Indicated ...
If a heart defect exists, it may cause multiple complications (depending on the specific defect). Severe cases have been ... X-rays will show skeletal abnormalities as described above. A bone marrow biopsy may be performed. As with most genetic ...
In contrast, DGAT2−/− mice have reduced triglyceride levels but are lipopenic, suffer from skin barrier abnormalities ( ... "Obesity resistance and multiple mechanisms of triglyceride synthesis in mice lacking Dgat". Nature Genetics. 25 (1): 87-90. doi ... "Lipopenia and skin barrier abnormalities in DGAT2-deficient mice". The Journal of Biological Chemistry. 279 (12): 11767-76. doi ...
2007). "Paracellin-1 gene mutation with multiple congenital abnormalities". Pediatr. Nephrol. 21 (11): 1776-8. doi:10.1007/ ... Twenty five tests were carried out on homozygous mutant animals and one significant abnormality was observed: the mice ...
"Multiple clonal abnormalities in the bronchial epithelium of patients with lung cancer". J. Natl. Cancer Inst. 91 (21): 1863-8 ... For the formation of solid tumors, there is an involvement of multiple cycles of clonal and non-clonal expansion.[40][47] Even ... There are multiple levels of genetic heterogeneity associated with cancer, including single nucleotide polymorphism (SNP),[36] ... When a cancer cell divides, both daughter cells inherit the genetic and epigenetic abnormalities of the parent cell, and may ...
CS1 maint: Multiple names: authors list (link) Leue, C; Kruimel, J; Vrijens, D; Masclee, A; van Os, J; van Koeveringe, G (March ... abnormalities, neurogenic inflammation, and myofascial pain syndrome. In the latter two categories, dysregulation of the local ... CS1 maint: Multiple names: authors list (link) Watanabe, T.; Inoue, M.; Sasaki, K.; Araki, M.; Uehara, S.; Monden, K.; Saika, T ... CS1 maint: Multiple names: authors list (link) Dimitrakov J, Joffe HV, Soldin SJ, Bolus R, Buffington CA, Nickel JC; Joffe; ...
CS1 maint: Multiple names: authors list (link) Dasilva, Alexandre F. M.; Goadsby, Peter J.; Borsook, David (2007). "Cluster ... 1984). "Metabolic abnormality in cluster headache". Headache, 1984 Nov;24(6):310-312. 24: 310-2. PMID 6519980. ... Robert Shapiro, a professor of neurology, says that while cluster headaches are about as common as multiple sclerosis with a ... Approximately 10-15% of cluster headaches are chronic, with multiple headaches occurring every day for years, sometimes without ...
Beckwith-Wiedemann syndrome Multiple abnormalities Renal cell carcinoma "Perlman syndrome". Orphanet. May 2008. Retrieved 2010- ... No chromosomal abnormalities have been observed, except for in the case of Chernos et al., which showed a de novo mutation - an ... Chernos JE, Fowler SB, Cox DM (September 1990). "A case of Perlman syndrome associated with a cytogenetic abnormality of ... During the first trimester, the common abnormalities of the syndrome observed by ultrasound include cystic hygroma and a ...
This article has multiple issues. Please help improve it or discuss these issues on the talk page. (Learn how and when to ... to diagnose fetal abnormalities. Claim 1 is illustrative: 1. A method for detecting a paternally inherited nucleic acid of ... further realized in the Federal Circuit's denial of Sequenom's innovative claimed method for diagnosing fetal abnormalities. ...
Multiple congenital ocular abnormalities (MCOA) in Rocky Mountain Horses and Kentucky Mountain Saddle Horses in Europe ... Kaps, S; Spiess, B M (2010). Multiple congenital ocular abnormalities (MCOA) in Rocky Mountain Horses and Kentucky Mountain ... While the prevalence of multiple ocular abnormalities appears to be lower in Europe than in the US, the prevalence of ciliary ... While the prevalence of multiple ocular abnormalities appears to be lower in Europe than in the US, the prevalence of ciliary ...
Multiple other body organs are rarely affected in Sturge-Weber syndrome. Infants affected with Sturge-Weber Syndrome are often ... Neurological Abnormalities. Neurological concerns relate to the development of excessive blood vessel growth on the surface of ... It is characterized by a congenital facial birthmark and neurological abnormalities. Other symptoms associated with Sturge- ... Throughout the life of the individual, interrelated symptoms may manifest in glaucoma, cerebral blood flow abnormalities, ...
Louis, used DiGeorge syndrome to indicate how a complex abnormality on chromosome 22q11 produces multiple cardiac abnormalities ... Gene abnormalities may lead to multiple system defects for heart patients Message Subject (Your Name) has sent you a message ... Gene abnormalities may lead to multiple system defects for heart patients. Paule Armstrong and Robert Hegele ... This abnormality is also associated with absence of the thymus gland, perturbations in calcium homeostasis and T-cell ...
When a patient has multiple abnormalities (multiple anomaly, multiple deformity), they have a congenital abnormality that can ... Most medical conditions can have systemic sequelae, but multiple abnormalities occur when the effects on multiple systems is ...
Read full story of Study renders insights into genetic abnormalities leading to multiple myeloma at Health News Section, ... Approximately, 50,000 new cases of multiple myeloma are diagnosed each year. ... incidence of multiple myeloma affects 1.8 per cent in a population of 100,000. ... Home » News » Health News » Study renders insights into genetic abnormalities leading to multiple myeloma ...
Multiple Lipoprotein Abnormalities in Type I Diabetic Patients With Renal Disease. Per-Henrik Groop, Tom Elliott, Rogerio ... Multiple Lipoprotein Abnormalities in Type I Diabetic Patients With Renal Disease. Per-Henrik Groop, Tom Elliott, Rogerio ... Multiple Lipoprotein Abnormalities in Type I Diabetic Patients With Renal Disease Message Subject (Your Name) has forwarded a ... The aim of this study was to characterize abnormalities of triglyceride-rich apolipoprotein (apo) B-containing lipoproteins in ...
Multiple Sclerosis is thought to be an autoimmune disease, whereby the body turns on itself and breaks down the myelin ... Myelin is a substance made up of multiple types of cells, one of which is cholesterol. Myelin acts as an insulator and ... Multiple Sclerosis is a chronic and debilitating disease that attacks the myelin sheath surrounding the nerves of the human ... Multiple Sclerosis and Gait Abnormalities. Table of Contents. 1. Disease Progression. 2. Treatment. 3. Gait Disturbance. 4. ...
... which showed several suspected abnormalities. First they identified a 2 vessel cord vs 3. Apparently this isn ... At the follow-up appointment with the Sr Consultant, we were told that the baby had catastrophic brain abnormalities and that ... In addition to the issues with her brain, she had abnormalities with her heart, stomach, feet and hands. The Consultant thinks ... Just had my 20 week scan today (19+6), which showed several suspected abnormalities. First they identified a 2 vessel cord vs 3 ...
Association of age with fluorescence in situ hybridization abnormalities in multiple myeloma reveals higher rate of IGH ... detected chromosomal abnormalities (CA) and age in multiple myeloma (MM). One hundred and nineteen patients with MM were ... 3.4%, p = 0.05). Myeloma cells from older patients were also three times more likely to have multiple CA. The presence of high- ...
Immunologic Abnormalities in Patients Receiving Multiple Blood Transfusions PEDRO GASCÓN, M.D., Ph.D.; NICHOLAS C. ZOUMBOS, M.D ... Immunologic Abnormalities in Patients Receiving Multiple Blood Transfusions. Ann Intern Med. ;100:173-177. doi: 10.7326/0003- ... Abnormalities of two immunologic tests, natural killer cell function and helper/suppressor (T4/T8) lymphocyte subpopulation ... These results show that chronic exposure to foreign antigens may be associated with abnormalities of immunologic function, but ...
Microvascular abnormality in relapsing-remitting multiple sclerosis: perfusion MR imaging findings in normal-appearing white ... of patients with relapsing-remitting multiple sclerosis (RR-MS) by using dynamic susceptibility contrast material-enhanced ...
Multiple vascular abnormalities and a paradoxical combination of vitamin B12 deficiency and thrombocytosis in a case with POEMS ... We assume that the high VEGF levels caused the vascular abnormalities observed in our patient. ...
The objective of this study was to evaluate the relative prevalence of the venous abnormalities that define CCSVI. Methods A ... Conclusion This case-control study provides compelling evidence against the involvement of CCSVI in multiple sclerosis. ... Objective Multiple sclerosis (MS) is a chronic neurodegenerative disease of the CNS. Recently a controversial vascular ... Multiple sclerosis Is the Subject Area "Multiple sclerosis" applicable to this article? Yes. No. ...
Multiple Abnormalities in Glucose and Energy Metabolism and Coordinated Changes in Levels of Adiponectin, Cytokines, and ... Multiple Abnormalities in Glucose and Energy Metabolism and Coordinated Changes in Levels of Adiponectin, Cytokines, and ... Multiple Abnormalities in Glucose and Energy Metabolism and Coordinated Changes in Levels of Adiponectin, Cytokines, and ... Multiple Abnormalities in Glucose and Energy Metabolism and Coordinated Changes in Levels of Adiponectin, Cytokines, and ...
CONCLUSIONS- The PPARδ agonist GW501516 reverses multiple abnormalities associated with the metabolic syndrome without ... In summary, the PPARδ agonist GW501516 attenuated multiple metabolic abnormalities normally associated with the metabolic ... Activation of Peroxisome Proliferator-Activated Receptor (PPAR)δ Promotes Reversal of Multiple Metabolic Abnormalities, Reduces ... Activation of Peroxisome Proliferator-Activated Receptor (PPAR)δ Promotes Reversal of Multiple Metabolic Abnormalities, Reduces ...
... cytogenetic abnormalities (10), and centrosomal abnormalities within multiple myeloma plasma cell ex vivo. Elevated RHAMM ... Plasma cell from all multiple myeloma samples analyzed showed numerical, structural, and volumetric abnormalities ( Fig. 1A). ... Ex vivo analysis of the relationship between centrosomal abnormalities and RHAMM expression in multiple myeloma patient plasma ... 1D). As with centrosomal abnormalities, multiple myeloma patients varied considerably in the absolute amount of RHAMM ...
... and the correct diagnosis for Multiple endocrine abnormalities - adenylyl cyclase dysfunction signs or Multiple endocrine ... adenylyl cyclase dysfunction including medical signs and symptoms of Multiple endocrine abnormalities - adenylyl cyclase ... Multiple endocrine abnormalities -- adenylyl cyclase dysfunction: Introduction. *Symptoms of Multiple endocrine abnormalities ... List of 37 Multiple endocrine abnormalities -- adenylyl cyclase dysfunction Symptoms Note that Multiple endocrine abnormalities ...
Chromosomal abnormalities are major prognostic factors in elderly patients with multiple myeloma: the intergroupe francophone ... Chromosome 1 abnormalities in elderly patients with newly diagnosed multiple myeloma treated with novel therapies ... Chromosome 1 abnormalities in elderly patients with newly diagnosed multiple myeloma treated with novel therapies ... Additional genetic abnormalities significantly worsen poor prognosis associated with 1q21 amplification in multiple myeloma ...
Dextrocardia with transposition of great vessels and multiple associated abnormalities of viscera. The Journal of the American ... Dextrocardia with transposition of great vessels and multiple associated abnormalities of viscera. J Am Osteopath Assoc 1970;70 ... Dextrocardia with transposition of great vessels and multiple associated abnormalities of viscera ... Dextrocardia with transposition of great vessels and multiple associated abnormalities of viscera ...
Failure to Diagnose Multiple Skeletal abnormalities with Anterior Segment Anomalies of the Eye and Early Lethality including ... Multiple Skeletal abnormalitie. *Introduction *Multiple Skeletal abnormalities with Anterior Segment Anomalies of the Eye and ... Undiagnosed Causes of Multiple Skeletal abnormalities with Anterior Segment Anomalies of the Eye and Early Lethality. As part ... Diseases » Multiple Skeletal abnormalities with Anterior Segment Anomalies of the Eye and Early Lethality » Undiagnosed ...
Background Male infertility due to multiple morphological abnormalities of the sperm flagella (MMAF) is a genetically ... Homozygous mutations in SPEF2 induce multiple morphological abnormalities of the sperm flagella and male infertility ... Homozygous mutations in SPEF2 induce multiple morphological abnormalities of the sperm flagella and male infertility ...
Lethal neonatal bone marrow failure syndrome with multiple congenital abnormalities including limb defects due to a ... Lethal neonatal bone marrow failure syndrome with multiple congenital abnormalities including limb defects due to a ... Lethal neonatal bone marrow failure syndrome with multiple congenital abnormalities including limb defects due to a ...
T cell non-Hodgkins lymphoma with uveitis, pancreatitis, digital gangrene and multiple chromosomal abnormalities. ... T cell non-Hodgkins lymphoma with uveitis, pancreatitis, digital gangrene and multiple chromosomal abnormalities. ...
This Is MS Multiple Sclerosis Knowledge & Support Community. Welcome to This is MS, the leading forum for Multiple Sclerosis ... The Central Vein: FLAIR Signal Abnormalities Associated with Developmental Venous Anomalies in Patients with Multiple Sclerosis ... Abnormalities in lipid metabolism. Link to cholesterol?? Last post by frodo « Tue Jan 09, 2018 10:55 am Posted in MS Etiology ... An underlying process causes abnormalities in veins together with MS Last post by frodo « Thu May 09, 2019 1:42 am Posted in ...
Correlation analysis of internal jugular vein abnormalities and cerebral venous sinus thrombosis. Jia LY, Hua Y, Ji XM, Liu JT ... This Is MS Multiple Sclerosis Community: Knowledge & Support. Welcome to the worlds leading forum on Multiple Sclerosis ... The Pearson chi-square test was used to evaluate the relationship between IJV abnormality and CVST, IJV abnormality and IJV ... Internal jugular vein abnormalities such as seen in CCSVI are a newly indentified risk factor for cerebral venous sinus ...
  • At the follow-up appointment with the Sr Consultant, we were told that the baby had catastrophic brain abnormalities and that she most likely wouldn't survive the pregnancy (she was already 3 weeks behind at the 20 week scan) and if she did manage to survive to birth that she'd most likely die soon after and be severely disabled. (mumsnet.com)
  • October 24, 2011 A study by researchers at the University of Mississippi Medical Center and UCSF shows that rats given a popularly prescribed antidepressant during development exhibit brain abnormalities and behaviors characteristic of autism spectrum disorders. (ucsf.edu)
  • The puppy had clinical canine distemper at the age of two months and had no history of any other systemic nor generalized infection prior to the time when the dental abnormalities were observed. (semanticscholar.org)
  • 65 years) with newly diagnosed multiple myeloma enrolled in the GIMEMA-MM-03-05 trial and treated with bortezomib, melphalan and prednisone or bortezomib, melphalan, prednisone and thalidomide followed by bortezomib and thalidomide maintenance. (haematologica.org)
  • We examined four clinically assessed cytogenetic subtypes (t(11;14), t(4;14), monosomy 13/del13q and monosomy 17/del17p in 292 black patients with newly diagnosed multiple myeloma (MM) from four medical centers, who had fluorescent in situ hybridization testing results available in their medical records. (elsevier.com)
  • However, the DiGeorge syndrome is associated with multiple system defects that cross medical disciplines, thus requiring flexibility, lateral thought and a more generalized approach to the patient. (cmaj.ca)
  • Indeed, patients with the same apparent anatomic defects may have substantial clinical differences, and the consequences of abnormalities both within and outside the cardiovascular system need to be integrated into their overall care. (cmaj.ca)
  • Among children aged ≥1 year born in U.S. territories and freely associated states to mothers with laboratory evidence of confirmed or possible Zika virus infection during pregnancy and who had follow-up care reported, 6% had a Zika-associated birth defect, 9% had ≥1 neurodevelopmental abnormality possibly associated with congenital Zika virus infection, and 1% had both. (cdc.gov)
  • ICD-9 code 654.42 for Other abnormalities in shape or position of gravid uterus and of neighboring structures delivered with postpartum complication is a medical classification as listed by WHO under the range -NORMAL DELIVERY, AND OTHER INDICATIONS FOR CARE IN PREGNANCY, LABOR, AND DELIVERY (650-659). (aapc.com)
  • This lecture was delivered by Dr Caterina Bilardo at ISUOG's Multiple Pregnancy Course, London, 1-2 April 2017. (isuog.org)
  • Her research interests include hypertensive disease in pregnancy, multiple pregnancy, and other complications of pregnancy. (isuog.org)
  • ICD-9 code 654.03 for Congenital abnormalities of uterus antepartum condition or complication is a medical classification as listed by WHO under the range -NORMAL DELIVERY, AND OTHER INDICATIONS FOR CARE IN PREGNANCY, LABOR, AND DELIVERY (650-659). (aapc.com)
  • Ness Ziona, Israel - 17 October 2017 - NRGene , the worldwide leader in genomic assembly and analysis, has demonstrated its ability to discover, analyze, and track abnormalities within the human genome, across multiple subjects. (nrgene.com)
  • Comprehensive detection of recurring genomic abnormalities: a targeted sequencing approach for multiple myeloma. (cdc.gov)
  • Recent genomic research efforts in multiple myeloma have revealed clinically relevant molecular subgroups beyond conventional cytogenetic classifications. (cdc.gov)
  • Cdc42GAP −/− mouse embryonic fibroblasts and/or tissues display reduced population doubling, significantly dampened DNA damage repair activity after DNA-damaging agent treatment, accumulated genomic abnormalities, and induction of p53, p16 Ink4a , p21 Cip1 , and senescence-associated β-galactosidase expressions. (pnas.org)
  • We combed through public ER+ data sets of breast cancer patients who were treated with standard-of-care hormone therapy to identify any gene abnormalities, such as overexpression or mutations, that we know are associated with relapse," said Dr. MeghaShyam Kavuri , assistant professor in the Lester and Sue Smith Breast Center, part of the NCI-designated Dan L Duncan Comprehensive Cancer Center at Baylor. (bcm.edu)
  • An especially important point is that an average individual patient sample has at least five subclones, each with multiple genetic mutations. (myeloma.org)
  • Finding the colon cancer causal mutation so efficiently demonstrates how our technology can support high throughput discovery of other abnormalities in the human genome, accelerating genetic-based disease research and delivering information toward finding cures. (nrgene.com)
  • In addition, recent advances in technology and the mapping of the human genome have enabled scientists to discover that abnormalities in the expression, or levels, of some specific genes are associated with the risk for early relapse of multiple myeloma. (healthcentral.com)
  • We studied 351 patients with smoldering multiple myeloma (SMM) in whom the underlying primary molecular cytogenetic subtype could be determined based on cytoplasmic immunoglobulin fluorescent in situ hybridization studies. (elsevier.com)
  • It was characteristics such as these that led Zamboni and colleagues to hypothesize that MS was associated with abnormalities of the drainage of the cerebral venous system and that, along with vascular iron leakage, were involved in progression of the disease - . (plos.org)
  • Correlation analysis of internal jugular vein abnormalities and cerebral venous sinus thrombosis. (thisisms.com)
  • Internal jugular vein abnormalities such as seen in CCSVI are a newly indentified risk factor for cerebral venous sinus thrombosis. (thisisms.com)
  • New Delhi , Mar 13 : In India, incidence of multiple myeloma affects 1.8 per cent in a population of 100,000. (newkerala.com)
  • There is an increased incidence of multiple myeloma in persons with rheumatoid arthritis or obesity (body mass index of more than 30 kg per m 2 ). (aafp.org)