Abnormal number or structure of chromosomes. Chromosome aberrations may result in CHROMOSOME DISORDERS.
Malformations of organs or body parts during development in utero.
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)
Congenital absence of or defects in structures of the eye; may also be hereditary.
Mapping of the KARYOTYPE of a cell.
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.
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.
Congenital, inherited, or acquired anomalies of the CARDIOVASCULAR SYSTEM, including the HEART and BLOOD VESSELS.
Congenital structural deformities, malformations, or other abnormalities of the cranium and facial bones.
A characteristic symptom complex.
Congenital structural abnormalities of the skin.
The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.
Congenital structural abnormalities of the UROGENITAL SYSTEM in either the male or the female.
The status during which female mammals carry their developing young (EMBRYOS or FETUSES) in utero before birth, beginning from FERTILIZATION to BIRTH.
The possession of a third chromosome of any one type in an otherwise diploid cell.
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.
Congenital structural abnormalities and deformities of the musculoskeletal system.
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.
Congenital absence of or defects in structures of the teeth.
A type of chromosome aberration characterized by CHROMOSOME BREAKAGE and transfer of the broken-off portion to another location, often to a different chromosome.
An infant during the first month after birth.
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).
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.
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.
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.
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.
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.
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.
Elements of limited time intervals, contributing to particular results or situations.
Pathophysiological conditions of the FETUS in the UTERUS. Some fetal diseases may be treated with FETAL THERAPIES.
A severe emotional disorder of psychotic depth characteristically marked by a retreat from reality with delusion formation, HALLUCINATIONS, emotional disharmony, and regressive behavior.
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.
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.
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.
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 using x-ray transmission and a computer algorithm to reconstruct the image.
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.
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.
Actual loss of portion of a chromosome.
Developmental abnormalities involving structures of the heart. These defects are present at birth but may be discovered later in life.
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)
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.
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.
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.
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.
Determination of the nature of a pathological condition or disease in the postimplantation EMBRYO; FETUS; or pregnant female before birth.
Structural abnormalities of the central or peripheral nervous system resulting primarily from defects of embryogenesis.
Ultrasonic recording of the size, motion, and composition of the heart and surrounding tissues. The standard approach is transthoracic.
Laboratory mice that have been produced from a genetically manipulated EGG or EMBRYO, MAMMALIAN.
Mice bearing mutant genes which are phenotypically expressed in the animals.
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.
An individual in which both alleles at a given locus are identical.
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.
An individual having different alleles at one or more loci regarding a specific character.
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)
A specific pair of GROUP D CHROMOSOMES of the human chromosome classification.
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.
Removal and pathologic examination of specimens in the form of small pieces of tissue from the living body.
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.
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.
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)
Congenital structural abnormalities of the DIGESTIVE SYSTEM.
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.
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.
Congenital structural deformities of the upper and lower extremities collectively or unspecified.
The occurrence in an individual of two or more cell populations of different chromosomal constitutions, derived from a single ZYGOTE, as opposed to CHIMERISM in which the different cell populations are derived from more than one zygote.
A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.
Assessment of sensory and motor responses and reflexes that is used to determine impairment of the nervous system.
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.
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)
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.
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.
A variation from the normal set of chromosomes characteristic of a species.
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.
A genetic rearrangement through loss of segments of DNA or RNA, bringing sequences which are normally separated into close proximity. This deletion may be detected using cytogenetic techniques and can also be inferred from the phenotype, indicating a deletion at one specific locus.
The hollow, muscular organ that maintains the circulation of the blood.
The inability of the male to effect FERTILIZATION of an OVUM after a specified period of unprotected intercourse. Male sterility is permanent infertility.
A statistical technique that isolates and assesses the contributions of categorical independent variables to variation in the mean of a continuous dependent variable.
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.
A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.
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.
Histochemical localization of immunoreactive substances using labeled antibodies as reagents.
Levels within a diagnostic group which are established by various measurement criteria applied to the seriousness of a patient's disorder.
Pathological conditions involving the HEART including its structural and functional abnormalities.
Descriptions of specific amino acid, carbohydrate, or nucleotide sequences which have appeared in the published literature and/or are deposited in and maintained by databanks such as GENBANK, European Molecular Biology Laboratory (EMBL), National Biomedical Research Foundation (NBRF), or other sequence repositories.
The sequence of PURINES and PYRIMIDINES in nucleic acids and polynucleotides. It is also called nucleotide sequence.
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.
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.
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.
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.
Disease having a short and relatively severe course.
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.
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.
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.
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.
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.
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.
Biochemical identification of mutational changes in a nucleotide sequence.
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.
A specific pair of GROUP E CHROMOSOMES of the human chromosome classification.
A specific pair of GROUP E CHROMOSOMES of the human chromosome classification.
The condition in which one chromosome of a pair is missing. In a normally diploid cell it is represented symbolically as 2N-1.
Body organ that filters blood for the secretion of URINE and that regulates ion concentrations.
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.
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.
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.
The use of diffusion ANISOTROPY data from diffusion magnetic resonance imaging results to construct images based on the direction of the faster diffusing molecules.
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).
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.
A specific pair of GROUP D CHROMOSOMES of the human chromosome classification.
Imaging techniques used to colocalize sites of brain functions or physiological activity with brain structures.
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)
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.
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.
Recording of electric potentials in the retina after stimulation by light.
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.
Congenital structural deformities, malformations, or other abnormalities of the maxilla and face or facial bones.
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.
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 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.
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.
Congenital structural abnormalities of the respiratory system.
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.
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)
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.
Congenital absence of or defects in structures of the jaw.
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.
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.
X-ray visualization of the chest and organs of the thoracic cavity. It is not restricted to visualization of the lungs.
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.
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 of one cerebral hemisphere over the other in cerebral functions.
A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.
The genetic constitution of the individual, comprising the ALLELES present at each GENETIC LOCUS.
Either of the pair of organs occupying the cavity of the thorax that effect the aeration of the blood.
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.
One of the two pairs of human chromosomes in the group B class (CHROMOSOMES, HUMAN, 4-5).
A specific pair of human chromosomes in group A (CHROMOSOMES, HUMAN, 1-3) of the human chromosome classification.
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.
Disturbances in mental processes related to learning, thinking, reasoning, and judgment.
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)
The gradual irreversible changes in structure and function of an organism that occur as a result of the passage of time.
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)
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.
A specific pair of human chromosomes in group A (CHROMOSOMES, HUMAN, 1-3) of the human chromosome classification.
The measurement of an organ in volume, mass, or heaviness.
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)
Death of the developing young in utero. BIRTH of a dead FETUS is STILLBIRTH.
Any method used for determining the location of and relative distances between genes on a chromosome.
A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.
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.
The propagation of the NERVE IMPULSE along the nerve away from the site of an excitation stimulus.
The outer covering of the body that protects it from the environment. It is composed of the DERMIS and the EPIDERMIS.
Refers to animals in the period of time just after birth.
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.
Use of reflected ultrasound in the diagnosis of intracranial pathologic processes.
The part of the cerebral hemisphere anterior to the central sulcus, and anterior and superior to the lateral sulcus.
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 that influence the PHENOTYPE only in the homozygous state.
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).
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."
Diseases affecting the eye.
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.
Disorders of the special senses (i.e., VISION; HEARING; TASTE; and SMELL) or somatosensory system (i.e., afferent components of the PERIPHERAL NERVOUS SYSTEM).
A large lobed glandular organ in the abdomen of vertebrates that is responsible for detoxification, metabolism, synthesis and storage of various substances.
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.
Endogenous substances, usually proteins, which are effective in the initiation, stimulation, or termination of the genetic transcription process.
Congenital absence of or defects in structures of the mouth.
The ordered rearrangement of gene regions by DNA recombination such as that which occurs normally during development.
The human female sex chromosome, being the differential sex chromosome carried by half the male gametes and all female gametes in humans.
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.
Contractile activity of the MYOCARDIUM.
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.
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.
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.
Collection of pooled secretions of the posterior vaginal fornix for cytologic examination.
A specific pair of GROUP G CHROMOSOMES of the human chromosome classification.
Alterations or deviations from normal shape or size which result in a disfigurement of the foot occurring at or before birth.
The SKELETON of the HEAD including the FACIAL BONES and the bones enclosing the BRAIN.
The middle third of a human PREGNANCY, from the beginning of the 15th through the 28th completed week (99 to 196 days) of gestation.
The observable response an animal makes to any situation.
The phenotypic manifestation of a gene or genes by the processes of GENETIC TRANSCRIPTION and GENETIC TRANSLATION.
Mice which carry mutant genes for neurologic defects or abnormalities.
The mass or quantity of heaviness of an individual. It is expressed by units of pounds or kilograms.
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.
Morphological and physiological development of EMBRYOS or FETUSES.
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.
PRESSURE of the BLOOD on the ARTERIES and other BLOOD VESSELS.
The degree of replication of the chromosome set in the karyotype.
The medium-sized, acrocentric human chromosomes, called group D in the human chromosome classification. This group consists of chromosome pairs 13, 14, and 15.
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.
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).
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)
Variant forms of the same gene, occupying the same locus on homologous CHROMOSOMES, and governing the variants in production of the same gene product.
Postmortem examination of the body.
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).
The basic cellular units of nervous tissue. Each neuron consists of a body, an axon, and dendrites. Their purpose is to receive, conduct, and transmit impulses in the NERVOUS SYSTEM.

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 ...
You will have to redo this procedure eventually. The improvement may not be drastic on first-time users. If you like to see what you may look like with a shorter philtrum, give CandyLipz a try.. Take a look at some of the results below. Click the carousel arrow to the left to see more videos. For some people, the scarring is unacceptable but it may make you look 5 years younger. Possible complications are asymmetry and hypertrophic scarring. Complications with this lip advancement surgery are asymmetry and hypertrophic scarring. This procedure will not leave visible scar on your face. Non-Surgical Lip Lift Using Ultrasound: Using this method, the ultrasound energy is used to tighten the skin without surgery or injections- in other words- heat is used to denature your collagen so it shrinks.. This procedure produces very minor skin shrinkage for your upper lip and mouth areas. You will need to do frequent touch ups to maintain your look. Thank you for reading CandyLipz Blog. This article is for ...
Dive into the research topics of Tetrasomy 15q25.2 → qter identified with SNP microarray in a patient with multiple anomalies including complex cardiovascular malformation. Together they form a unique fingerprint. ...
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 ...
For those who might not know, a persons palate is the official medical term for a roof of the mouth. The palate starts to develop in the early stages of pregnancy and continues to develop through early childhood.
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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EDEMA and LOW-SET, POSTERIORLY ROTATED EARS related symptoms, diseases, and genetic alterations. Get the complete information with our medical search
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...
Compare and contrast the different techniques for anomaly detection that were presented in Chapter 9. Discuss techniques for combining multiple anomaly detection techniques to improve the identification of anomalous objects.
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
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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 ...
TY - JOUR. T1 - The phenotypic spectrum of trisomy 2. T2 - Report of two new cases. AU - Mihci, Ercan. AU - Velagaleti, Gopalrao V.N.. AU - Ensenauer, Regina. AU - Babovic-Vuksanovic, Dusica. PY - 2009/10/1. Y1 - 2009/10/1. N2 - We describe two cases of trisomy 2. The first case is a child with mosaic trisomy 2 who presented with mental retardation, multiple congenital anomalies, and dysmorphic findings similar to Pallister-Killian syndrome. The second case was an acardiac and acranial fetus with complete trisomy 2. We review the phenotypic spectrum associated with trisomy 2. Clin Dysmorphol 18:201-204.. AB - We describe two cases of trisomy 2. The first case is a child with mosaic trisomy 2 who presented with mental retardation, multiple congenital anomalies, and dysmorphic findings similar to Pallister-Killian syndrome. The second case was an acardiac and acranial fetus with complete trisomy 2. We review the phenotypic spectrum associated with trisomy 2. Clin Dysmorphol 18:201-204.. KW - ...
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.
The study aimed to analyse the clinical courses of aggressively treated neonates with cytogenetically confirmed trisomy 18, with special attention focused on the efficiency of prenatal diagnostics, associated malformations, therapeutic dilemmas and outcomes. We investigated retrospectively the data concerning 20 neonates with trisomy 18, admitted to the Neonatal Intensive Care Unit (NICU) in Katowice between January 2000 and February 2005. Their birth weights ranged from 650 g to 2400 g, mean 1812 g; gestational age ranged from 27 to 42 weeks, median 38 weeks. Intrauterine growth retardation was noticed in 90% of neonates. Trisomy 18 was suspected prenatally in 40% of cases. Most (80%) of newborns were delivered by caesarean section (92% of neonates with prenatally unrecognized chromosomal defects, 62% of neonates with trisomy 18 suspicion) and 70% of infants needed respiratory support immediately after birth. Cardiac defects were present in 95%, central nervous system malformations in 65%, ...
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 ...
September 24, 2018. Recent findings suggest that approximately one-quarter of infants with suspected or confirmed Zika virus exposure during the 2015-2016 Rio de Janeiro outbreak developed eye abnormalities. Researchers said that regardless of laboratory confirmation, all infants born during Zika outbreaks should be universally screened for eye abnormalities.. Irena Tsui, MD, an ophthalmologist at UCLA, and colleagues wrote that lab confirmation of Zika virus (ZIKV) infection in neonates may be difficult for several reasons, including the observation that many cases of ZIKV infection are asymptomatic. These cases, according to the researchers, tend not to get tested for the infection. Additionally, a negative test result cannot rule out infection because the virus is detectable through testing for only 3 to 16 days after symptom onset.. Read more. ...
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 ...
ATAXIA and CLINODACTYLY related symptoms, diseases, and genetic alterations. Get the complete information with our medical search engine for phenotype
PURPOSE To address early and late treatment failures in older patients with diffuse large B-cell lymphoma (DLBCL), we designed a… Expand ...
Pathol. a genetic disorder, associated with the presence of an extra chromosome 21, characterized by mild to severe mental retardation, weak muscle tone, a low nasal bridge, and epicanthic folds at the eyelids. Also, Down s syndrome. Formerly,…
It has been widely and quite long known that some genetic conditions cause obesity, however, a new study finds that there are even more than we originally thought. Originally there were about 2 dozen conditions, now there are roughly 79 rare genetic syndromes linked to obesity. The study was focused on monogenic forms of obesity, which are quite rare. After analyzing 161 scientific research papers, they found 79 obesity syndromes reported where not only did the genetic defect result in obesity, but it also caused additional abnormal features (such as mental disability, characteristic facial features, kidney disease and heart malformation). ...
Broad Nasal Bridge Symptom Checker: Possible causes include Mowat-Wilson Syndrome. Check the full list of possible causes and conditions now! Talk to our Chatbot to narrow down your search.
Serious health problems can often be diagnosed by odd signs in the eyes. These 14 eye abnormalities may be a symptom of a real issue.
NIH Rare Diseases : 50 chromosome 11q deletion is a chromosome abnormality that occurs when there is a missing (deleted) copy of genetic material on the long arm (q) of chromosome 11. the severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. features that often occur in people with chromosome 11q deletion include developmental delay, intellectual disability, behavioral problems and distinctive facial features. chromosome testing of both parents can provide more information on whether or not the deletion was inherited. in most cases, parents do not have any chromosomal anomaly. however, sometimes one parent is found to have a balanced translocation, where a piece of a chromosome has broken off and attached to another one with no gain or loss of genetic material. the balanced translocation normally does not cause any signs or symptoms, but it increases the risk for having an affected child with a chromosomal anomaly like ...
Patients with deletions of chromosome 6p22-p24 reveal characteristic facial features and intellectual disability (ID). JARID2 gene mutation.
Free, official coding info for 2018 ICD-10-CM O43.191 - includes detailed rules, notes, synonyms, ICD-9-CM conversion, index and annotation crosswalks, DRG grouping and more.
p>An evidence describes the source of an annotation, e.g. an experiment that has been published in the scientific literature, an orthologous protein, a record from another database, etc.,/p> ,p>,a href=/manual/evidences>More…,/a>,/p> ...
As of March 2016, 6.36 Mb of sequence (83 genes, 1557 exons) generated in our lab was compared between Sanger and NextGen methodologies. We detected no differences between the two methods. The comparison involved 6400 total sequence variants (differences from the reference sequences). Of these, 6144 were nucleotide substitutions and 256 were insertions or deletions. About 65% of the variants were heterozygous and 35% homozygous. The insertions and deletions ranged in length from 1 to over 100 nucleotides.. In silico validation of insertions and deletions in 20 replicates of 5 genes was also performed. The validation included insertions and deletions of lengths between 1 and 100 nucleotides. Insertions tested in silico: 2200 between 1 and 5 nucleotides, 625 between 6 and 10 nucleotides, 29 between 11 and 20 nucleotides, 25 between 21 and 49 nucleotides, and 23 at or greater than 50 nucleotides, with the largest at 98 nucleotides. All insertions were detected. Deletions tested in silico: 1813 ...
Im 24 year old girl. I brushes twice in a day but my teeth are yellowing day by day. Im worried about it. How to get rid of this yellowing of teeth and how...
From stacking blocks to play kitchens, here are top toys for 1 year old girls that are certainly enjoyable and help her achieve developmental milestones.
Publikační činnost Eva Hladilkova12†, Tuva Barøy1†, Madeleine Fannemel1, Vladimira Vallova23, Doriana Misceo1, Vesna Bryn4, Iva Slamova35, Sarka Prasilova2, Petr Kuglik23* andEirik Frengen1*: A recurrent deletion on chromosome 2q13 is associated with developmental delay and mild facial dysmorphisms, 31. 6. 2015
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 ...
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 ...
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 ...
"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; ...
Idiopathic causes, such as vertebral wedging or other abnormalities, can be confirmed through X-ray. Osteoporosis, a potential ... multiple myeloma; or trauma. A normal thoracic spine extends from the 1st thoracic to the 12th thoracic vertebra and should ... Idiopathic thoracic kyphosis due to vertebral wedging, fractures, or vertebral abnormalities is more difficult to manage, since ... It can result from degenerative disc disease; developmental abnormalities, most commonly Scheuermann's disease; osteoporosis ...
Multiple electrolyte abnormalities are common in ALF. Correction of hypokalemia is essential as hypokalemia increases the ... Schmidt LE, Larsen FS (2006). "Prognostic implications of hyperlactatemia, multiple organ failure, and systemic inflammatory ...
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 ...
"The Merle Gene and Multiple Ocular Abnormalities". Eye Care for Animals. Archived from the original on 12 December 2013. "World ...
A single progesterone test is unreliable because of high variability across the day, and multiple tests are expensive and ... Vaginal ultrasonography, to detect abnormalities in folliculogenesis. The characteristics of the rise in basal body temperature ...
Later in life these spinal column abnormalities may put the child at risk for developing scoliosis, or curvature of the spine.[ ... While most cases are sporadic, there are clearly families who present with multiple involved members.[citation needed] ... Renal abnormalities in VACTERL association can be severe, with incomplete formation of one or both kidneys or urologic ... VACTERL association, however, is most likely caused by multiple factors.[1] VACTERL association specifically refers to the ...
14 August 2013). "Evidence against the involvement of chronic cerebrospinal venous abnormalities in multiple sclerosis. A case- ... Qiu J (May 2010). "Venous abnormalities and multiple sclerosis: another breakthrough claim?". The Lancet. Neurology. 9 (5): 464 ... 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, ...
PMID 11245753.CS1 maint: multiple names: authors list (link) Data C. Y., Liua W. M., Chena S. W., Yangb C.-A., Tunga Y. C., ... "Recovery of behavioral abnormalities after right hemisphere stroke". Neurology. 33 (3): 345-350. doi:10.1212/WNL.33.3.345.CS1 ... doi:10.1037/0894-4105.4.3.147.CS1 maint: multiple names: authors list (link) Orfei M. D., Robinson R. G., Prigatano G. P., ... On the other hand, the right hemisphere is more involved in recognizing multiple and non-primary meanings of words, divergent ...
When there are multiple malformations, this is considered a syndrome. When abnormalities appear due to outside contributors, ... Medical embryology is used widely to detect abnormalities before birth. 2-5% of babies are born with an observable abnormality ... ISBN 978-1-60535-470-5. OCLC 945169933.CS1 maint: multiple names: authors list (link) Soprano, Dianne Robert; Soprano, Kenneth ... Genetically derived abnormalities are referred to as malformations. ...
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 ...
In contrast, DGAT2−/− mice[9] 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 ...
This fibrosis is a product of multiple mechanisms including renal hemodynamic changes, glucose metabolism abnormalities ... Glycemic control: Multiple studies have found a positive effect of improved glycemic control on clinical outcomes of patients ... In multiple clinical trials, SGLT2 inhibitors showed improved cardiovascular outcomes in patients with DM as well a positive ... Pathophysiologic abnormalities in DN begin with long-standing poorly controlled blood glucose levels. This is followed by ...
This is followed by multiple changes in the filtration units of the kidneys, the nephrons. (There are normally about 3/4-1 1/2 ... 2] Pathophysiologic abnormalities in DN begin with long-standing poorly controlled blood glucose levels. ... and damage to the glomerular capillaries of multiple causes, including mesangial matrix deposition ...
Yet, the abnormalities can be detected using brain imaging and state-of-the-art analytic tools. Studies on structural ... 3.0.co;2-g.CS1 maint: multiple names: authors list (link) Rubia, K., Smith, A. B., Halari, R., Matsukura, F., Mohammad, M.; et ... The abnormalities can be either of general character or affect specific regions of the brain that control emotions, aggression ... As you can see below, both structural and functional abnormalities tend to affect the same areas of the brain. These are the ...
Shukla, V. K. S.; Clausen, J.: Linoleate and fatty acids pattern of serum lipids in Multiple Sclerosis. Acta Neurol. Scand.. 57 ... 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 Neurol. ... 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 ...
This means that the spermatozoa show the same abnormality, and over 85% of spermatozoa in sperm have this abnormality. ... PMID 17460092.CS1 maint: multiple names: authors list (link) Vicari, Enzo; Perdichizzi, Anna; Palma, Adele De; Burrello, ... "Globozoospermia is associated with chromatin structure abnormalities: Case report". Human Reproduction. 17 (8): 2128-2133. doi: ...
... the most common structural chromosomal abnormalities seen in humans that result in syndromes of multiple malformations, ... R.J.M Gardner, Grant R Sutherland, and Lisa G. Shaffer (Nov 2011). Chromosome Abnormalities and Genetic Counseling (4 ed.) (4 ... ISBN 978-0-19-537533-6.CS1 maint: multiple names: authors list (link) Jung, Moses (1940). "Modern Marriage". American Journal ...
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 ...
As such, this results in the preferential ocular symptoms of CPEO.[citation needed] Multiple mtDNA abnormalities exist which ... 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 ...
A clinical or self breast exam involves feeling the breast for lumps or other abnormalities. Clinical breast exams are ... During a screening, the breast is compressed and a technician takes photos from multiple angles. A general mammogram takes ... The study found that older breast cancer survivors showed multiple indications of decrements in their health-related quality of ...
An orthotist may address gait abnormalities by prescribing the use of ankle-foot orthoses. These orthoses help control foot ... X linked Charcot-Marie-Tooth disease and multiple sclerosis: emerging evidence for an association, Neurogenetics, doi: https:// ... Yiu, Eppie M.; Burns, Joshua; Ryan, Monique M.; Ouvrier, Robert A. (2008). "Neurophysiologic abnormalities in children with ...
The exact reason for these abnormalities is not known. Multiple standards exist for defining Henoch-Schönlein purpura, ... It is suspected that abnormalities in the IgA1 molecule may provide an explanation for its abnormal behaviour in both HSP and ... While abnormalities on urinalysis may continue for a long time, only 1% of all HSP patients develop chronic kidney disease. ...
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. ...
CS1 maint: multiple names: authors list (link) *^ Singh S, Khanna S, Pardi DS, Loftus EV, Talwalkar JA (2013). "Effect of ... Structural or functional abnormalities of the biliary system result in an increase in bilirubin (jaundice) and in bile acids in ... There are multiple steps in bile acid synthesis requiring 14 enzymes in all.[3] These result in the junction between the first ...
Abnormalities in the skull baseEdit. Impaired venous outflow is often caused by a hypoplastic jugular foramen.[23] This causes ... Multiple potential causes of premature suture closure have been identified, such as the several genetic mutations that are ... Pfeiffer syndrome: abnormalities of the skull, hands, and feet wide-set, bulging eyes, an underdeveloped upper jaw, beaked nose ... Not all cranial abnormalities seen in children with craniosynostosis are solely a consequence of the premature fusion of a ...
CS1 maint: multiple names: authors list (link). *^ Palmer SC, Mavridis D, Nicolucci A, Johnson DW, Tonelli M, Craig JC, Maggo J ... There are a number of rare cases of diabetes that arise due to an abnormality in a single gene (known as monogenic forms of ...
More modern scanners now include multiple rings, essentially forming a cylinder of detectors. ... so that areas of abnormality on the PET imaging can be more perfectly correlated with anatomy on the CT images. This is very ... the prepared dose of a radiopharmaceutical bearing this radionuclide will undergo multiple half-lives of decay during the ...
Recovered gorilla carcasses have contained multiple Ebola virus strains, suggesting multiple introductions of the virus. Bodies ... menstrual abnormalities, miscarriages, skin peeling, or hair loss.[23][141] Inflammation and swelling of the uveal layer of the ... January 2004). "Multiple Ebola virus transmission events and rapid decline of central African wildlife". Science. 303 (5656): ... and abnormalities in blood clotting often consistent with disseminated intravascular coagulation (DIC) such as a prolonged ...
The prevalence of hypertension, and abnormalities in glucose metabolism are major predictors of mortality and morbidity in ... No single test is perfect and multiple tests should always be used to achieve a proper diagnosis.[7] Diagnosing Cushing's ... fluid and electrolyte abnormalities (12.5%), and neurological deficits (5.6%) were the most common complications reported. The ...
They work by killing C. acnes and reducing inflammation.[20][82][90] Although multiple guidelines call for healthcare providers ... If retinoids are used there is a high risk of abnormalities occurring in the developing fetus; women of childbearing age are ... Microneedling is a procedure in which an instrument with multiple rows of tiny needles is rolled over the skin to elicit a ... the need for multiple visits, the time required to complete the procedure(s), and pain associated with some of the treatment ...
The transcription factor Sox9 can be found in multiple sites in the body (pancreas, central nervous system, intestines) and it ... "Inactivation of Pten in Osteo-Chondroprogenitor Cells Leads to Epiphyseal Growth Plate Abnormalities and Skeletal Overgrowth" ... Alexander Friedenstein and his colleagues first identified osteoprogenitor cells in multiple mammalian tissues, before any ...
Foremost among these abnormalities is the fact that the neurons are usually harvested as neural stem cells from a fetus and are ... Baruchi I, Ben-Jacob E (2007). "Towards Neuro-Memory Chip: Imprinting Multiple Memories in Cultured Neural Networks". Physical ...
CS1 maint: Multiple names: authors list (link). *^ K.E. Watkins, T. Paus, J.P. Lerch, A. Zijdenbos, D.L. Collins, P. Neelin, J ... "Evidence for abnormalities of cortical development in adolescent-onset schizophrenia". NeuroImage. 43 (4): 665-75. doi:10.1016 ... CS1 maint: Multiple names: authors list (link). *^ John Ashburner and Karl J. Friston (June 2000). "Voxel-Based Morphometry-The ... CS1 maint: Multiple names: authors list (link). *^ Catriona D. Good, Ingrid Johnsrude, John Ashburner, Richard N. A. Henson, ...
The abnormalities seen in the SPECT images are very similar to those seen in people with cerebral vacuities and Creutzfeldt- ... American indie rock band Typhoon are noted for having multiple songs which reference or are directly about Lyme disease.[273] ... Lyme disease can affect multiple body systems and produce a broad range of symptoms. Not everyone with Lyme disease has all of ... Lyme can cause a chronic encephalomyelitis that resembles multiple sclerosis. It may be progressive and can involve cognitive ...
This article has multiple issues. Please help improve it or discuss these issues on the talk page. (Learn how and when to ... The physician spreads the buttocks apart and will usually examine the external area (anus and perineum) for any abnormalities ...
They found that multiple genes that make up AH8.1 define the genetic risk for all types of myositis.[41] ... "Histocompatibility antigens and dermatitis herpetiformis with special reference to jejunal abnormalities and acetylator ... February 1999). "The genetic basis for the association of the 8.1 ancestral haplotype (A1, B8, DR3) with multiple ... These studies suggest multiple factors on B8::DQ2 that are possessed by other haplotypes also confer susceptibility to type 1 ...
Atypia: an indication of abnormality of a cell (which may be indicative for malignancy). Significance of the abnormality is ... Multiple metastatic tumors are generally treated with radiotherapy and chemotherapy rather than surgery and the prognosis in ... In standard external beam radiation therapy, multiple treatments of standard-dose "fractions" of radiation are applied to the ... multiple endocrine neoplasia, and neurofibromatosis type 2 carry a high risk for the development of brain tumors.[21][22] ...
... cardiac abnormalities, kyphoscoliosis, as well as auditory and visual abnormalities. ... Multiple mutations have been identified in RPS6KA3 that can give rise to the disorder, including missense mutations, nonsense ... only possessing some mild deformities and abnormalities.[9] In 1975, Samia Temtamy reported eight patients from three different ... is a genetic disorder that is X-linked dominant and which causes severe mental problems sometimes associated with abnormalities ...
Structural abnormalities of the kidneys are identified with imaging tests. These may include Medical ultrasonography/ultrasound ... multiple myeloma) and metabolic diseases (diabetes, cystinosis). ...
This article has multiple issues. Please help improve it or discuss these issues on the talk page. (Learn how and when to ... like the vertebral column of wolves on Isle Royale or having cranial abnormalities, such as in Northern elephant seals, where ... Due to multiple consanguineous marriages within the family, the condition progressed through the generations until the last ...
Gene pleiotropy occurs when a gene product interacts with multiple other proteins or catalyzes multiple reactions. ... This gene seems to pleiotropically lead to other abnormalities like increased metabolism, higher food consumption, accelerated ... Other more complex models compensate for some of the basic model's oversights, such as multiple traits or assumptions about how ... Such a gene that exhibits multiple phenotypic expression is called a pleiotropic gene . Therefore mutation in a pleiotropic ...
Targets can be reliably imaged through the application of multiple short singly labeled oligonucleotide probes.[12] The binding ... The hybridization signals for each probe when a nucleic abnormality is detected.[9] Each probe for the detection of mRNA and ... Spectral karyotyping involves FISH using multiple forms of many types of probes with the result to see each chromosome labeled ... of oligozoospermic men have an increased rate of sperm chromosome abnormalities.[17] The analysis of chromosomes 21, X, and Y ...
Minuk GY, Kelly JK, Hwang WS (1988). "Vitamin A hepatotoxicity in multiple family members". Hepatology. 8 (2): 272-5. doi: ... Vitamin A toxicity is known to be an ancient phenomenon; fossilized skeletal remains of early humans suggest bone abnormalities ... Wick JY (February 2009). "Spontaneous fracture: multiple causes". The Consultant Pharmacist. 24 (2): 100-2, 105-8, 110-2. doi: ... indicate that retinoids can be delivered to tissues through multiple overlapping delivery pathways, involving chylomicrons, ...
The biggest man without growth abnormalities was an incredible 236 cm (7.74 ft) tall and weighed at least 230 kg (510 lb).[103] ... "Body Mass Estimation in Amphicyonid Carnivoran Mammals: A Multiple Regression Approach from the Skull and Skeleton" (PDF) ...
List of dental abnormalities associated with cutaneous conditions. References[edit]. *^ a b c Rapini, Ronald P.; Bolognia, Jean ... "Human tyrosine kinase 2 deficiency reveals its requisite roles in multiple cytokine signals involved in innate and acquired ... STAT3 may present as HIES with characteristic facial, dental, and skeletal abnormalities[7] that has been called Job's Syndrome ... and skeletal abnormalities. Patients with STAT3 HIES may have either delay of or failure in shedding of primary teeth. The ...
Abnormalities of dermal fibrous and elastic tissue. *Cutaneous condition stubs. Hidden categories: *All stub articles ... Multiple minute digitate hyperkeratosis. *PUVA keratosis. *Reactional keratosis. *Stucco keratosis. *Thermal keratosis ...
Richter, M (21 February 2018). "Altered TAOK2 activity causes autism-related neurodevelopmental and cognitive abnormalities ...
CS1 maint: multiple names: authors list (link). *↑ ୧୧.୦ ୧୧.୧ "Facts About Down Syndrome". National Association for Down ... Kliegma, Robert M. (2011). "Down Syndrome and Other Abnormalities of Chromosome Number". Nelson textbook of pediatrics (19th ed ... European Concerted Action: DADA (Decision-making After the Diagnosis of a fetal Abnormality)". Prenatal diagnosis. 19 (9): 808- ...
Foreign patients travel to Cuba for a wide range of treatments including eye-surgery, neurological disorders such as multiple ... "some fetal abnormalities", the woman "would have an abortion", to avoid an increase in the infant mortality rate.[79] ... Cuba's national health system is made up of multiple tiers: 1) the community containing individuals and families, 2) family ... notes that pregnant women may be forced to undergo abortions if fetal abnormalities are detected or forcibly placed under ...
CS1 maint: Multiple names: authors list (link). *^ a b Farrar, J; Ryan; Olliver; Gillespie (October 2008). "Radiofrequency ... The operation may be far from trivial, especially in the worst apnea cases, in which growth is retarded and abnormalities of ... CS1 maint: Multiple names: authors list (link). *^ Sun Y (Apr 2014). "Cardiac structural and functional changes in old elderly ... In this chromosomal abnormality, several features combine to make the presence of obstructive sleep apnea more likely. The ...
... with maternal anatomic or hormonal abnormalities and paternal and maternal chromosomal causes excluded or at least 1 premature ...
F19) multiple drug use and use of other psychoactive substances (F20-F29) Schizophrenia, schizotypal and delusional disorders[ ... Congenital malformations, deformations and chromosomal abnormalities XVIII R00-R99 Symptoms, signs and abnormal clinical and ... F95.2) Combined vocal and multiple motor tic disorder (Gilles de la Tourette) ...
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 ...
Conclusion: Urodynamic abnormalities were found in 68.75% of our patients. This highlights the importance of urodynamic studies ... Results: Urodynamic abnormalities were detected in 22 patients (68.75%). Detrusor overactivity (DO) was present alone in 8 ... Early detection of bladder abnormalities is important to improve the outcome in MS patients. Objectives: The aim of this study ... Methods: This is a prospective study for 32 patients with relapsing remitting Multiple Sclerosis from January 2017 to June 2018 ...
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 ...
The clinical significance of these NAWM abnormalities is the subject of debate, but there is strong correlation with degre … ... In established cases of multiple sclerosis (MS), the normal-appearing white matter (NAWM), as defined for magnetic resonance ... Pathological abnormalities in the normal-appearing white matter in multiple sclerosis Neurol Sci. 2001 Apr;22(2):141-4. doi: ... These relate to the frequency and extent of oligodendrocyte/myelin and axonal abnormalities in MS NAWM, and to the cellular ...
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 ...
Multiple Congenital Abnormalities. Shweta Mishra, Piyush Chandel, Supriya Bisht.. Department of Neonatology, Fortis Hospital, ... A 7 days old male infant was referred to us with sepsis, cardiovascular shock, and multiple congenital abnormalities. His birth ... Mishra S, Chandel P, Bisht S. Multiple Congenital Abnormalities (Orbeli Syndrome). Pediatr Oncall J. 2019;16: 27. doi: 10.7199/ ... Mishra S, Chandel P, Bisht S. Multiple Congenital Abnormalities (Orbeli Syndrome). Pediatr Oncall J. 2019;16: 27. doi: 10.7199/ ...
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 ...
Cytogenetic abnormalities in multiple myeloma: poor prognosis linked to concomitant detection in random and focal lesion bone ... Cytogenetic Abnormalities in Multiple Myeloma: Poor Prognosis Linked to Concomitant Detection in Random and Focal Lesion Bone ... Cytogenetic Abnormalities in Multiple Myeloma: Poor Prognosis Linked to Concomitant Detection in Random and Focal Lesion Bone ... Cytogenetic Abnormalities in Multiple Myeloma: Poor Prognosis Linked to Concomitant Detection in Random and Focal Lesion Bone ...
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. ...
Multiple Sclerosis International; Health, general Limbic system Abnormalities Comparative analysis Research Multiple sclerosis ... Quantitative MRI demonstrates abnormality of the fornix and cingulum in multiple sclerosis.(Clinical Study, Report) by ... relapsing-remitting multiple sclerosis, SPMS: secondary progressive multiple sclerosis, PPMS: primary progressive multiple ... APA style: Quantitative MRI demonstrates abnormality of the fornix and cingulum in multiple sclerosis.. (n.d.) >The Free ...
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 ...
... multiple malformation syndromes) in several dysostosis in children]. Download Prime PubMed App to iPhone, iPad, or Android ... Dental abnormalities in several malformation conditions (cleft lip and/or palate, ... Dental abnormalities in several malformation conditions (cleft lip and/or palate, multiple malformation syndromes) in several ... Dental Abnormalities in Several Malformation Conditions (cleft Lip And/or Palate, Multiple Malformation Syndromes) in Several ...
Patients with multiple morphological abnormalities of the sperm flagella due to DNAH1 mutations have a good prognosis following ... outcomes for patients with multiple morphological abnormalities of the sperm flagella (MMAF)? ... a flagellar phenotype called MMAF is characterized by a mosaic of morphological abnormalities of the flagellum, including ... studies have reported an increased rate of aneuploidy and a poor sperm nuclear quality related to sperm flagellar abnormalities ...
... 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 ...
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 ...
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 ...
CELL-MEMBRANE ABNORMALITY DETECTED IN ERYTHROCYTES FROM PATIENTS WITH MULTIPLE-SCLEROSIS BY PARTITION IN 2-POLYMER AQUEOUS- ... CELL-MEMBRANE ABNORMALITY DETECTED IN ERYTHROCYTES FROM PATIENTS WITH MULTIPLE-SCLEROSIS BY PARTITION IN 2-POLYMER AQUEOUS- ... CELL-MEMBRANE ABNORMALITY DETECTED IN ERYTHROCYTES FROM PATIENTS WITH MULTIPLE-SCLEROSIS BY PARTITION IN 2-POLYMER AQUEOUS- ... CELL-MEMBRANE ABNORMALITY DETECTED IN ERYTHROCYTES FROM PATIENTS WITH MULTIPLE-SCLEROSIS BY PARTITION IN 2-POLYMER AQUEOUS- ...
  • T cell non-Hodgkin's lymphoma with uveitis, pancreatitis, digital gangrene and multiple chromosomal abnormalities. (bmj.com)
  • A new study uses a special genetic sequencing technique to detect chromosomal abnormalities in couples with recurrent miscarriage. (babygaga.com)
  • Chromosomal abnormalities -- rearrangements of large chunks of DNA -- in the genomes of one or both individuals trying to conceive are thought to be one of the major genetic causes of RM. (babygaga.com)
  • This new study was conducted by investigators from Brigham and Women's Hospital, Shandong University and The Chinese University of Hong Kong and it uses a special genetic sequencing technique known as low-pass genome sequencing (GS) to look for chromosomal abnormalities in couples with RM. (babygaga.com)
  • Low-pass GS revealed additional chromosomal abnormalities in more couples than traditional testing, increasing detection to 1 in 9 couples. (babygaga.com)
  • The team detected 127 chromosomal abnormalities using low-pass GS, accounting for approximately 12 percent of the couples and about 50 more couples than traditional chromosomal analysis detected. (babygaga.com)
  • A recent article in the medical journal Cancer Cell documents the widespread chromosomal abnormalities present in myeloma cells. (myeloma.org)
  • We've known for several decades that myeloma cells have many chromosomal abnormalities. (myeloma.org)
  • As had been noted in the authors' earlier study of 38 patients, there are some recurring patterns of chromosomal abnormalities, including, for example, the BRAF gene. (myeloma.org)
  • It is assumed that combinations of agents and modalities and multifunctional therapies will be required to produce the best results, overcoming complex chromosomal abnormalities. (myeloma.org)
  • G-banding, chromosomal microarray (CMA), and FISH were performed to clarify the nature of this complex abnormality. (biomedcentral.com)
  • 99%) for detection of IGH translocations and relevant chromosomal gains and losses in multiple myeloma. (cdc.gov)
  • Several specific chromosomal abnormalities define the subgroups of multiple myeloma. (ablkinase.com)
  • Genetic causes of birth defects fall into three general categories: chromosomal abnormalities, single-gene defects, and multifactorial influences. (nature.com)
  • For example, chromosomal abnormalities, or large-scale duplications or deletions of chromosomal segments or entire chromosomes, can become apparent during this period. (nature.com)
  • Down syndrome, on the other hand, is by far the most common chromosomal abnormality , affecting 1 in 800 babies. (nature.com)
  • As opposed to chromosomal abnormalities, single-gene defects are usually inherited. (nature.com)
  • 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)
  • Usually CI was still beneficial to the children with brain abnormalities, and the short-term hearing improvement could be achieved. (hindawi.com)
  • However, few studies focused on the effect of brain abnormalities detected on preoperative brain MR imaging on CI, although several studies had introduced its incidence. (hindawi.com)
  • Therefore, based on a large cohort of 157 patients who accepted preimplantation evaluation for SNHL in our hospital, we try to study the incidence of brain abnormalities and to clarify the influence of brain abnormalities on the hearing improvement after CI, further to clarify whether the brain abnormalities should be viewed as the contraindication of CI. (hindawi.com)
  • Among all the 157 children with SNHL, 26 brain abnormalities were found on the brain MR imaging of 23 patients, and the incidence was 14.6% (23/157). (hindawi.com)
  • Multiple sclerosis (MS) is a disease with wide variability in clinical presentation. (scirp.org)
  • This is a prospective study for 32 patients with relapsing remitting Multiple Sclerosis from January 2017 to June 2018. (scirp.org)
  • This highlights the importance of urodynamic studies in the early evaluation of relapsing remitting Multiple Sclerosis. (scirp.org)
  • Bekhit, A. and Saber-Khalaf, M. (2018) Urodynamic Abnormalities in Patients with Relapsing Remitting Multiple Sclerosis. (scirp.org)
  • Multiple sclerosis (MS) is a chronic immune-mediated inflammatory disease of the central nervous system. (scirp.org)
  • In established cases of multiple sclerosis (MS), the normal-appearing white matter (NAWM), as defined for magnetic resonance imaging (MRI), is abnormal in the majority of cases. (nih.gov)
  • Multiple Sclerosis is a chronic and debilitating disease that attacks the myelin sheath surrounding the nerves of the human body. (walking-canes.net)
  • Multiple Sclerosis is thought to be an autoimmune disease, whereby the body turns on itself and breaks down the myelin surrounding the nerve fibers. (walking-canes.net)
  • The rate at which the human nerve demyelinates, once one is diagnosed with Multiple Sclerosis, is not predictable. (walking-canes.net)
  • There is no known cure for Multiple Sclerosis. (walking-canes.net)
  • Treatment of Multiple Sclerosis occurs by managing the recurrence of symptoms, reducing the flair frequency and managing the severity of the disease flairs. (walking-canes.net)
  • 2) The strategy of treating acute attacks is handled differently than the strategies instituted to slow the progress of Multiple Sclerosis. (walking-canes.net)
  • One of the most significant issues of progressive Multiple Sclerosis is difficulty with walking. (walking-canes.net)
  • The feet and legs are particularly susceptible to numbness, in the patient with Multiple Sclerosis. (walking-canes.net)
  • Demyelination of the nerve sheaths is thought to be the culprit behind the increased muscle tone seen in patients with Multiple Sclerosis. (walking-canes.net)
  • Deconditioning, combined with overexertion, can impact walking in the patient with multiple Sclerosis. (walking-canes.net)
  • Physical therapy, a regular workout routine and some adjunct physical support, can go a long way in minimizing the impact of fatigue on the patient with Multiple Sclerosis. (walking-canes.net)
  • There is no medication regimen that can manage balance issues, in the patient with Multiple Sclerosis. (walking-canes.net)
  • Microvascular abnormality in relapsing-remitting multiple sclerosis: perfusion MR imaging findings in normal-appearing white matter. (nih.gov)
  • To prospectively determine hemodynamic changes in the normal-appearing white matter (NAWM) of patients with relapsing-remitting multiple sclerosis (RR-MS) by using dynamic susceptibility contrast material-enhanced perfusion magnetic resonance (MR) imaging. (nih.gov)
  • Quantitative MRI demonstrates abnormality of the fornix and cingulum in multiple sclerosis. (thefreelibrary.com)
  • Evidence against the Involvement of Chronic Cerebrospinal Venous Abnormalities in Multiple Sclerosis. (plos.org)
  • Multiple sclerosis (MS) is a chronic neurodegenerative disease of the CNS. (plos.org)
  • This case-control study provides compelling evidence against the involvement of CCSVI in multiple sclerosis. (plos.org)
  • Multiple sclerosis (MS) is a chronic (and often progressive), demyelinating, neurodegenerative, inflammatory disease of the central nervous system [1] , [2] . (plos.org)
  • Welcome to This is MS, the leading forum for Multiple Sclerosis research and support. (thisisms.com)
  • Welcome to the world's leading forum on Multiple Sclerosis research, support, and knowledge. (thisisms.com)
  • For over 10 years, This is MS has provided an unbiased community dedicated to Multiple Sclerosis patients, caregivers, and affected loved ones. (thisisms.com)
  • A forum to discuss Chronic Cerebrospinal Venous Insufficiency and its relationship to Multiple Sclerosis. (thisisms.com)
  • Neuro-ophthalmic manifestations are frequently encountered in persons with multiple sclerosis (MS). Affected individuals may experience problems with how they see the world (afferent visual pathway symptoms) and/or how their eyes move together (efferent visual pathway disorders). (medscape.com)
  • [ 1 , 2 ] Approximately 15% of patients with MS experience a primary progressive course from onset, either without preceding relapses (known as primary progressive multiple sclerosis [PPMS]) or with superimposed neurological events, known as progressive relapsing MS. (medscape.com)
  • Diffusion-weighted imaging (DWI) and perfusion-weighted imaging (PWI) abnormalities in patients with multiple sclerosis (MS) are currently measured by a complex combination of separate procedures. (biomedcentral.com)
  • August 08, 2012 There is no cure for multiple sclerosis, but several medications can help slow its devastating effects, and extend healthier years for the roughly 2.5 million people worldwide diagnosed with this chronic neurological disease. (ucsf.edu)
  • November 01, 2011 An experimental drug called Ocrelizumab has shown promise in a Phase 2 clinical trial involving 220 people with multiple sclerosis (MS), an often debilitating, chronic autoimmune disease that affects an increasing number of people in North America. (ucsf.edu)
  • Multiple sclerosis (MS) affects 400,000 Americans and is the leading nontraumatic cause of neurological disability in young adults. (airingpods.com)
  • Incidental MRI anomalies suggestive of multiple sclerosis: the radiologically isolated syndrome. (airingpods.com)
  • From leg spasms to anxiety, catching your zzz's with multiple sclerosis may seem impossible. (healthcentral.com)
  • Just about everyone struggles with sleep at some point in their lives, but if you have multiple sclerosis, you may face some pretty unique challenges. (healthcentral.com)
  • Download this unique, FREE tool and resource that provides important information about the diagnosis and management of multiple sclerosis for practicing clinicians. (nationalmssociety.org)
  • Cytogenetic abnormalities in multiple myeloma: poor prognosis linked to concomitant detection in random and focal lesion bone marrow samples and as. (nih.gov)
  • MDS/AML-associated cytogenetic abnormalities in multiple myeloma and monoclonal gammopathy of undetermined significance: Evidence for frequent de novo occurrence and multipotent stem cell involvement of del(20q). (lu.se)
  • 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)
  • A recent study conducted by CORE Diagnostics reveal that genetic abnormalities are more prevalent among younger median age of 50 years to 70 years, which forms 65 per cent of total multiple myeloma cases. (newkerala.com)
  • The test has revolutionized genetic analysis and enabled precise determination of the presence and frequency of genetic abnormalities. (newkerala.com)
  • Majority of the studies on genetic aberrations in multiple myeloma include western population. (newkerala.com)
  • Our study includes 1001 Indian patients, which would help in better understanding of genetic abnormalities among Indian population. (newkerala.com)
  • A technique known as pre-implantation genetic testing (PGT) can help couples with genetic abnormalities conceive through in vitro fertilization. (babygaga.com)
  • 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)
  • Many genes are abnormal, and even within the same patient, there are multiple clones with different genetic mutations. (myeloma.org)
  • An especially important point is that an average individual patient sample has at least five subclones, each with multiple genetic mutations. (myeloma.org)
  • Environmental factors likely interact with underlying genetic factors to increase the risk of multiple myeloma. (aafp.org)
  • Multiple myeloma genetic factors are abnormalities in the number or structure of chromosomes. (healthcentral.com)
  • Research has shown that genetic factors may be linked to multiple myeloma. (healthcentral.com)
  • Both types of genetic abnormalities may help doctors predict the outcome of treatment. (healthcentral.com)
  • [email protected]#FISH detection showed that 68 cases of MM (79.07%) had at least one type of the molecular genetic abnormalities . (bvsalud.org)
  • Male infertility is a major health concern and approximately 10-15% of cases are caused by genetic abnormalities. (amegroups.com)
  • Genetic factors are believed to be involved in these abnormalities, as unaffected relatives show similar dysfunction. (wikipedia.org)
  • Monitor for multiple myeloma symptoms and M protein (serum and urine) every six to 12 months in patients with monoclonal gammopathy of undetermined significance, and every three to four months in patients with smoldering multiple myeloma. (aafp.org)
  • This work offers the first direct experimental evidence establishing TCDD as an environmental risk factor for monoclonal gammopathy of undetermined significance and multiple myeloma. (elsevier.com)
  • Chromosome abnormalities may affect the number of chromosomes. (healthcentral.com)
  • These chromosome abnormalities may be an explanation for the wide variation in response to treatment among individuals with multiple myeloma. (healthcentral.com)
  • This means that chromosome abnormalities may become more widely used as a prognostic indicator, or a factor that allows physicians to predict the outcome of treatment. (healthcentral.com)
  • The discovery of chromosome abnormalities also presents opportunities to develop new drugs and other types of treatment that target the abnormality. (healthcentral.com)
  • The examination of cells to look for chromosome abnormalities is called cytogenetic analysis . (healthcentral.com)
  • A more powerful way of analyzing cells for chromosome abnormalities is fluorescence in situ hybridization, commonly referred to as FISH. (healthcentral.com)
  • Affected patients often exhibit atrial septal defect, and there may be associated abnormalities of the tricuspid valve and a ventricular septal defect, as well as developmental skeletal abnormalities. (cmaj.ca)
  • One possible misdiagnosis is the failure to correctly diagnose Multiple Skeletal abnormalities with Anterior Segment Anomalies of the Eye and Early Lethality leading to a person remaining with undiagnosed Multiple Skeletal abnormalities with Anterior Segment Anomalies of the Eye and Early Lethality. (rightdiagnosis.com)
  • or skeletal abnormalities (pectus excavatum/carinatum). (infectiousdiseaseadvisor.com)
  • [email protected]#To explore the characteristics of cytogenetics and molecular genetics in patients with multiple myeloma (MM)[email protected]* METHODS @#Fluorescence in situ hybridization(FISH) was used for molecular genetics analysis in 86 cases of newly diagnosed MM, at the same time the chromosome karyotype analysis was performed in 20 cases. (bvsalud.org)
  • Disparities in fluorescence in situ hybridization (FISH) abnormalities in patients with multiple myeloma (MM) by race have been well-described in whites but have only been partially detailed in minorities (Paulus, et al. (valuebasedcancer.com)
  • Two (2/35) horses had multiple congenital ocular abnormalities consistent with anterior segment dysgenesis (ASD). (uzh.ch)
  • None of the seal brown, black or bay horses had ocular abnormalities, while 18/24 chocolate horses had lesions. (uzh.ch)
  • While the prevalence of multiple ocular abnormalities appears to be lower in Europe than in the US, the prevalence of ciliary body cysts is almost the same. (uzh.ch)
  • IMSEAR at SEARO: A family with rare multiple congenital ocular abnormalities. (who.int)
  • Bhattacharjee H. A family with rare multiple congenital ocular abnormalities. (who.int)
  • When a patient has multiple abnormalities (multiple anomaly, multiple deformity), they have a congenital abnormality that can not be primarily identified with a single system of the body or single disease process. (wikipedia.org)
  • Diastematomyelia is a rare congenital abnormality of the spinal cord in which a part of the spinal cord is split in the sagittal plane into two hemicords [ 1 ]. (clinmedjournals.org)
  • Strauss, a pediatric cardiologist and molecular biologist at Washington University in St. Louis, used DiGeorge syndrome to indicate how a complex abnormality on chromosome 22q11 produces multiple cardiac abnormalities, including truncus arteriosus, tetralogy of Fallot and pulmonary atresia. (cmaj.ca)
  • The theme running through all of these vignettes was Strauss's idea that physicians must begin to think more as developmental biologists and less as technicians who simply focus on anatomic abnormalities of the heart. (cmaj.ca)
  • A more detailed family history, including other cutaneous and mucosal lesions and cancers, as well as the developmental and neurologic abnormalities, may be helpful. (medscape.com)
  • We report a 14-year-old girl who presented with multiple congenital anomalies and developmental delay. (biomedcentral.com)
  • We report a patient with multiple congenital anomalies and developmental delay who presented with a CCR involving three chromosomes 3, 7 and 12. (biomedcentral.com)
  • The patient was a 14-year-old female who presented clinically with developmental delay and multiple congenital anomalies including abnormal teeth and abnormal faces. (biomedcentral.com)
  • There were also multiple developmental abnormalities. (wiley.com)
  • Developmental disturbances may be responsible for abnormalities in mitochondrial sheath, failure of the flagella to properly elongate, and the characteristic absence of CPs in MMAF with patients. (amegroups.com)
  • These relate to the frequency and extent of oligodendrocyte/myelin and axonal abnormalities in MS NAWM, and to the cellular basis of very early MS lesions detected by neuroimaging. (nih.gov)
  • Furthermore, among 27 cases with unilateral IJV abnormality, all the CVST occurred on the same side as the IJV lesions. (thisisms.com)
  • From a comprehensive FISH tests, the lesions associated with short progression-free survival and overall survival in multivariate analysis were del(17p13), abnormalities of chromosome 1(1p deletion and 1q amplification) and an adverse immunoglobulin heavy chain gene translocation group incorporating t(4;14), t(14;16) and t(14;20). (cdc.gov)
  • [10] Multiple myeloma is diagnosed based on blood or urine tests finding abnormal antibodies, bone marrow biopsy finding cancerous plasma cells, and medical imaging finding bone lesions. (wikipedia.org)
  • Skeletal radiographs are important in staging multiple myeloma and revealing lytic lesions, vertebral compression fractures, and osteoporosis. (aafp.org)
  • Does DNAH1 status influence intracytoplasmic sperm injection (ICSI) outcomes for patients with multiple morphological abnormalities of the sperm flagella (MMAF)? (nih.gov)
  • Among all these qualitative defects, a flagellar phenotype called MMAF is characterized by a mosaic of morphological abnormalities of the flagellum, including coiled, bent, irregular, short or/and absent flagella, mainly due to the absence of the axonemal central pair microtubules. (nih.gov)
  • Background Male infertility due to multiple morphological abnormalities of the sperm flagella (MMAF) is a genetically heterogeneous disorder. (bmj.com)
  • The sperm of males afflicted with multiple morphological abnormalities of the flagella (MMAF) possess severe defects of the sperm flagella, may impair sperm motility and lead to male infertility. (amegroups.com)
  • The sperm of males afflicted with multiple morphological abnormalities of the flagella (MMAF) presents severe defects, including bent, short, coiled, absent, and/or irregular flagella that may fully or partially impair sperm motility. (amegroups.com)
  • There are two major placental abnormalities. (faqs.org)
  • 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)
  • Many zygotes that carry such abnormalities do not develop into embryos, but among those that are carried to term, trisomy 21 ( Down syndrome ), trisomy 13 (Patau syndrome ), and trisomy 18 (Edwards syndrome) are the most frequent birth defects. (nature.com)
  • To check for pulmonic valve stenosis (PVS), obstructive cardiomyopathy, myxomas, and other structural heart defects, it may be beneficial to perform a transthoracic echocardiogram and an electrocardiogram (ECG), which also may reveal conduction abnormalities such as left axis deviation, prolonged PR intervals, and right bundle branch block. (infectiousdiseaseadvisor.com)
  • TY - JOUR T1 - [Dental abnormalities in several malformation conditions (cleft lip and/or palate, multiple malformation syndromes) in several dysostosis in children]. (unboundmedicine.com)
  • Note that Multiple endocrine abnormalities -- adenylyl cyclase dysfunction symptoms usually refers to various medical symptoms known to a patient, but the phrase Multiple endocrine abnormalities -- adenylyl cyclase dysfunction signs may often refer to those signs that are only noticable by a doctor. (rightdiagnosis.com)
  • More detailed symptom information may be found on the symptoms of Multiple endocrine abnormalities -- adenylyl cyclase dysfunction article. (rightdiagnosis.com)
  • The phrase "signs of Multiple endocrine abnormalities -- adenylyl cyclase dysfunction" should, strictly speaking, refer only to those signs and symptoms of Multiple endocrine abnormalities -- adenylyl cyclase dysfunction that are not readily apparent to the patient. (rightdiagnosis.com)
  • The signs and symptom information on this page attempts to provide a list of some possible signs and symptoms of Multiple endocrine abnormalities -- adenylyl cyclase dysfunction. (rightdiagnosis.com)
  • This medical information about signs and symptoms for Multiple endocrine abnormalities -- adenylyl cyclase dysfunction has been gathered from various sources, may not be fully accurate, and may not be the full list of Multiple endocrine abnormalities -- adenylyl cyclase dysfunction signs or Multiple endocrine abnormalities -- adenylyl cyclase dysfunction symptoms. (rightdiagnosis.com)
  • Furthermore, signs and symptoms of Multiple endocrine abnormalities -- adenylyl cyclase dysfunction may vary on an individual basis for each patient. (rightdiagnosis.com)
  • Only your doctor can provide adequate diagnosis of any signs or symptoms and whether they are indeed Multiple endocrine abnormalities -- adenylyl cyclase dysfunction symptoms. (rightdiagnosis.com)
  • Previous neuroimaging findings revealed various abnormalities in resting-state activity in MCI patients, but the findings have been inconsistent. (nature.com)
  • She is the lead for the Multiple Pregnancy service at St George's Hospital, the referral unit for the South West London region, but also cares for women with low risk pregnancies. (isuog.org)
  • We hypothesize that NVP treated in the ED does indeed have a high re-visit rate and that the variables of decreased patient age, decreased gestational age, decreased maternal gravidity, the presence of multiple gestation pregnancies, and the presence of lab abnormalities are associated with a higher likelihood for return ED visits for treatment of NVP. (medscape.com)
  • Mishra S, Chandel P, Bisht S. Multiple Congenital Abnormalities (Orbeli Syndrome). (pediatriconcall.com)
  • Concern for the potential risk of the acquired immunodeficiency syndrome among blood cell recipients led us to measure immunologic functions in patients who had received multiple transfusions. (annals.org)
  • Abnormalities of two immunologic tests, natural killer cell function and helper/suppressor (T4/T8) lymphocyte subpopulation ratio, have characterized patients with the acquired immunodeficiency syndrome and are prevalent in populations at risk for this syndrome. (annals.org)
  • CONCLUSIONS- The PPARδ agonist GW501516 reverses multiple abnormalities associated with the metabolic syndrome without increasing oxidative stress. (diabetesjournals.org)
  • Individuals suspected of having Cowden disease (multiple hamartoma syndrome) should be questioned carefully about other family members with malignancies, especially concerning the breast and thyroid. (medscape.com)
  • A baseline full physical examination with yearly follow-up examinations to help detect early changes resulting from malignancies is an essential component of Cowden disease (multiple hamartoma syndrome) patients' management. (medscape.com)
  • The physical signs that may be present with Cowden disease (multiple hamartoma syndrome) are discussed below. (medscape.com)
  • Approximately 40% of Cowden disease (multiple hamartoma syndrome) patients have translucent punctate keratoses on the palms or soles. (medscape.com)
  • A report in 2006 documents multiple mucosal neuromas as the presenting sign of Cowden syndrome, adding this syndrome to the differential diagnosis list for multiple mucosal neuromas. (medscape.com)
  • [ 14 ] Multiple sclerotic fibromas are also documented by Requena et al as a cutaneous marker for Cowden disease (multiple hamartoma syndrome). (medscape.com)
  • Carcinoma of the breast occurs in 20-36% of female patients and is one of the most serious consequences of Cowden disease (multiple hamartoma syndrome). (medscape.com)
  • Carcinoma of the breast also has been reported in 2 men with Cowden disease (multiple hamartoma syndrome). (medscape.com)
  • Although Chen et al reported a few cases of adenocarcinoma of the colon in Cowden disease (multiple hamartoma syndrome) patients, the malignant potential of polyps is low. (medscape.com)
  • [ 19 ] Esophageal and gingival glycogen acanthosis has been documented in several patients with Cowden disease (multiple hamartoma syndrome). (medscape.com)
  • Multiple pterygium syndrome is a condition that is evident before birth with webbing of the skin (pterygium) at the joints and a lack of muscle movement (akinesia) before birth. (medlineplus.gov)
  • As a result, multiple pterygium syndrome can lead to further problems with movement such as arms and legs that cannot fully extend. (medlineplus.gov)
  • The two forms of multiple pterygium syndrome are differentiated by the severity of their symptoms. (medlineplus.gov)
  • Multiple pterygium syndrome, Escobar type (sometimes referred to as Escobar syndrome) is the milder of the two types. (medlineplus.gov)
  • Lethal multiple pterygium syndrome is fatal before birth or very soon after birth. (medlineplus.gov)
  • Lethal multiple pterygium syndrome has many of the same signs and symptoms as the Escobar type. (medlineplus.gov)
  • Lethal multiple pterygium syndrome is typically fatal in the second or third trimester of pregnancy. (medlineplus.gov)
  • The prevalence of multiple pterygium syndrome is unknown. (medlineplus.gov)
  • Mutations in the CHRNG gene cause most cases of multiple pterygium syndrome, Escobar type and a smaller percentage of cases of lethal multiple pterygium syndrome. (medlineplus.gov)
  • The replacement of fetal AChR by adult AChR is the reason most people with multiple pterygium syndrome, Escobar type do not have problems with muscle movement after birth. (medlineplus.gov)
  • A lack of signaling between nerve and muscle cells leads to akinesia and pterygium before birth, and may result in many of the other signs and symptoms of multiple pterygium syndrome. (medlineplus.gov)
  • Mutations in other genes, most providing instructions for other AChR protein subunits, have been found to cause multiple pterygium syndrome. (medlineplus.gov)
  • Some people with multiple pterygium syndrome do not have an identified mutation in any of the known genes associated with this condition. (medlineplus.gov)
  • Patients were classified as having standard-risk or high-risk cytogenetic abnormalities per the criteria of the IMWG.1, 2, 3 High-risk cytogenetic markers included del 13 BWCR or hypodiploidy by metaphase cytogenetic analysis and/or del 17p13, t(4;14), t(14;16) by interphase FISH. (rectalcancersite.com)
  • In XL647 addition, response was assessed by the number of cytogenetic abnormalities (1 vs ?2) and for specific abnormalitiesdel 13, hypodiploidy, del 17p13, t(4;14) and t(14;16). (rectalcancersite.com)
  • Most medical conditions can have systemic sequelae, but multiple abnormalities occur when the effects on multiple systems is immediately obvious. (wikipedia.org)
  • It may coexist with other spinal dysraphisms, such as myelomeningocele, meningocele, spinal lipoma, neuroenteric cysts or dermal sinuses and vertebral abnormalities, such as hemivertebrae, butterfly vertebrae or scoliosis [ 3 ]. (clinmedjournals.org)
  • Congenital genitourinary system problems are seen in 26% of patients, primarily males, as well as abnormalities such as cryptorchidism or hypospadias. (infectiousdiseaseadvisor.com)
  • Early detection of bladder abnormalities is important to improve the outcome in MS patients. (scirp.org)
  • Comprehensive detection of recurring genomic abnormalities: a targeted sequencing approach for multiple myeloma. (cdc.gov)
  • Receiver operating characteristic (ROC) detection accuracy and decision thresholds were analyzed to study the effects of adding the nodule on detecting the test abnormalities. (elsevier.com)
  • He was given multiple platelets, fresh frozen plasma and packed red blood cell transfusions. (pediatriconcall.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)
  • Materials and Methods: A total of 64 chest computed radiographs, half containing various "test" abnormalities, were read twice by 20 radiologists, once with and once without the addition of a simulated pulmonary nodule. (elsevier.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)
  • 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 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)
  • In multiple myeloma the immunoglobulin gene translocations are generated by unusual class change recombination (CSR) occasions occurring through the germinal middle stage of B cell advancement. (ablkinase.com)
  • More and more studies are showing that the gene expression profile of a cancerous tumor can help personalize treatment, and this test is the first one to be developed for multiple myeloma. (healthcentral.com)
  • In summary, we show that a multiple myeloma designed custom capture NGS panel can detect IGH translocations and CNAs with very high concordance in relation to FISH and SNP microarrays and importantly captures the most relevant and recurrent somatic mutations in multiple myeloma rendering this approach highly suitable for clinical application in the modern era. (cdc.gov)
  • The median TTP was 28 months with t(4;14) (high-risk), 34 months with trisomies alone (intermediate-risk), 55 months with t(11;14), MAF translocations, other/unknown IgH translocations, monosomy13/del(13q) without other abnormalities, and those with both trisomies and IgH translocations (standard-risk), and not reached in patients with no detectable abnormalities (low-risk), P=0.001. (elsevier.com)
  • Strategies for treating cancers caused by multiple genome abnormalities. (icr.ac.uk)
  • TCDD induced splenomegaly and multiple peripheral blood abnormalities, including anemia and high serum IgG levels. (elsevier.com)
  • The objective of this study was to evaluate the relative prevalence of the venous abnormalities that define CCSVI. (plos.org)
  • 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 [5] - [9] . (plos.org)
  • The primary objective of this study was to evaluate the relative prevalence of the five venous abnormalities that define CCSVI, using both Doppler ultrasound and magnetic resonance imaging (MRI) quantitative flow techniques, amongst four sub-groups of MS patients and the matched controls. (plos.org)
  • Correlation analysis of internal jugular vein abnormalities and cerebral venous sinus thrombosis. (thisisms.com)
  • Cerebral venous sinus thrombosis (CVST) is a special form of stroke with multiple causes and risk factors. (thisisms.com)
  • Internal jugular vein abnormalities such as seen in CCSVI are a newly indentified risk factor for cerebral venous sinus thrombosis. (thisisms.com)
  • The aim of this study was to characterize abnormalities of triglyceride-rich apolipoprotein (apo) B-containing lipoproteins in type I diabetic patients with elevated albumin excretion rates (AERs). (diabetesjournals.org)
  • We then compared the prevalence of these abnormalities with a previously characterized Mayo Clinic cohort of 471 patients with MM. We found a significant difference in the prevalence of the t(11;14) immunoglobulin heavy chain (IgH) translocation between blacks and whites, 6.5% versus 17.6%, respectively, Po0.0001. (elsevier.com)
  • Translocation data were available on 1,655 multiple myeloma individuals, 12% with t(4;14) and 17% with t(11;14) and ploidy status was available for 1,535 individuals, 55% of which had HD (Supplementary Table 1). (ablkinase.com)
  • Using data from UK and German GWASs, we derived the combined OR and confidence interval (CI) for each SNP under a fixed-effects model along with the connected translocations and HD multiple myeloma were either non-significant (which is definitely upregulated through close proximity to the powerful E enhancer of the locus as a result of reciprocal translocation. (ablkinase.com)
  • Much like multiple myeloma the regularity from the G allele was considerably higher EGT1442 in MGUS sufferers with t(11;14) than in those with no translocation (0.69 and 0.55 respectively, locus. (ablkinase.com)
  • The most common structural abnormality in multiple myeloma is translocation, or mismatching of chromosome parts. (healthcentral.com)
  • The clinical significance of these NAWM abnormalities is the subject of debate, but there is strong correlation with degree and progression of disability. (nih.gov)
  • The clinical significance of cytogenetic abnormalities (CA) present in randomly sampled (RS) or focal lesion (FL) bone marrow sites was examined in 419 untreated myeloma patients. (nih.gov)
  • abstract = "Although epidemiologic studies have suggested a possible association between occupational exposures to 2,3,7,8-tetrachlorodibenzo-p-dioxin (TCDD) and the risk of development of multiple myeloma, definitive evidence in support of this association is lacking. (elsevier.com)
  • As others have shown that excess pericentriolar material strongly associates with abnormal mitoses, we modeled centrosomal abnormalities with exogenous RHAMM overexpression. (aacrjournals.org)
  • 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)
  • Although, considered to be a treatable disease, multiple myeloma is generally incurable. (newkerala.com)
  • Multiple myeloma is considered treatable, but generally incurable. (wikipedia.org)
  • While ADPKD causes the continued growth of multiple kidney cysts that ultimately result in loss of kidney function, the leading cause of death among patients with ADPKD is cardiovascular disease. (clinicaltrials.gov)
  • Recent genomic research efforts in multiple myeloma have revealed clinically relevant molecular subgroups beyond conventional cytogenetic classifications. (cdc.gov)
  • For example, about half of all multiple myeloma cases are linked to the deletion of chromosome 13. (healthcentral.com)
  • Bone pain affects almost 70% of people with multiple myeloma and is the one of the most common symptoms. (wikipedia.org)
  • Multiple myeloma, the most common bone malignancy, is occurring with increasing frequency in older persons. (aafp.org)
  • Multiple myeloma is the most common primary bone malignancy. (aafp.org)
  • Numerous studies have reported an increased rate of aneuploidy and a poor sperm nuclear quality related to sperm flagellar abnormalities, which could impede ICSI outcome. (nih.gov)
  • 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)
  • Time to progression (TTP) to symptomatic multiple myeloma was significantly shorter in patients with the t(4;14) compared with patients with t(11;14), median 28 versus 55 months, respectively, P=0.025. (elsevier.com)
  • These data indicate that TCDD accelerates monoclonal gammopathy development and promotes progression to multiple myeloma in genetically-predisposed mice. (elsevier.com)