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.
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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Im listening to Natasha Beddingfields song These Words and I actually like it. I think perhaps I need medication or something.
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
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 ...
It can be caused by multiple factors, one being genetic. Genes and their influence determine the initial number of the ... other maturation abnormalities, maternal ageing, and mitochondrial abnormalities. Oocyte abnormalities can be caused by a ... Oocyte maturation abnormalities (OMAS) are repeatedly experienced in a small percentage of infertile women. These are problems ... The principal oocyte abnormality associated with increased maternal age is aneuploidy, in which chromosome segregation errors ...
As of 2004, the FDA is not aware of any fatal overdoses involving modafinil alone (as opposed to multiple drugs including ... Zee PC, Attarian H, Videnovic A (February 2013). "Circadian rhythm abnormalities". Continuum. 19 (1 Sleep Disorders): 132-147. ... As of 2015 it had been studied for use in multiple sclerosis-associated fatigue, but the resulting evidence was weak and ... Modafinil is suggested for helping with multiple sclerosis (MS) fatigue by the UK National Institute for Health and Care ...
Stage 3: the patient develops shock with azotemia and acid-base disturbances; has significant coagulation abnormalities. Stage ... "multiple organ failure" in several chapters and do not use "multiple organ dysfunction syndrome" at all. There are different ... Multiple dysfunction syndrome is the presence of altered organ function in acutely ill patients such that homeostasis cannot be ... Multiple organ dysfunction syndrome is well established as the final stage of a continuum: SIRS + infection → sepsis → severe ...
Multiple sclerosis does not increase the risk of congenital abnormality or miscarriage. The effects of depression during ... "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 Bramham ... Among these uterine abnormalities, those with canalization defects, i.e., not having a normal uterine canal such as septate ...
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; Copenhagen ...
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 ...
The 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, such as are shortened and ...
"VACTERL association complicated with multiple airway abnormalities". Medicine. 98 (42): e17413. doi:10.1097/MD.0000000000017413 ... Unfortunately, the results have been somewhat difficult to replicate by other surgeons and the need for multiple operations has ...
"The Merle Gene and Multiple Ocular Abnormalities". Eye Care for Animals. Archived from the original on 12 December 2013. "World ...
Blood serum of MS patients shows abnormalities. Endothelin-1 shows maybe the most striking discordance between patients and ... Some PPMS patients have been found to have a special genetic variant named rapidly progressive multiple sclerosis In these ... Comparative Effectiveness Research (CER) is an emerging field in Multiple Sclerosis treatment. The response of the disease to ... Several biomarkers for diagnosis of multiple sclerosis, disease evolution and response to medication (current or expected) are ...
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.[citation needed] Zamboni and colleagues claimed that in MS ... In 2009, the Multiple Sclerosis Society of Canada committed to funding research on the connection between CCSVI and MS, ...
PMID 11245753.{{cite journal}}: CS1 maint: multiple names: authors list (link) Data C. Y., Liua W. M., Chena S. W., Yangb C.-A ... "Recovery of behavioral abnormalities after right hemisphere stroke". Neurology. 33 (3): 345-350. doi:10.1212/WNL.33.3.345.{{ ... CS1 maint: multiple names: authors list, Articles with short description, Short description matches Wikidata, All articles with ... 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 ... What is a human admixed embryo? Definition of embryo according to Webster (CS1 maint: multiple names: authors list, Articles ... ISBN 978-1-60535-470-5. OCLC 945169933.{{cite book}}: CS1 maint: multiple names: authors list (link) Soprano, Dianne Robert; ...
Facial abnormalities are the second highest occurring symptom after the lentigines. Abnormalities also include: broad nasal ... Drug therapies for those with cardiac abnormalities, as those abnormalities become severe enough to warrant the use of these ... Noonan syndrome with multiple lentigines (NSML) which is part of a group called Ras/MAPK pathway syndromes, is a rare autosomal ... Noonan syndrome with multiple lentigines is caused by a different missense mutation of the same gene. Noonan syndrome is fairly ...
Qiu J (May 2010). "Venous abnormalities and multiple sclerosis: another breakthrough claim?". The Lancet. Neurology. 9 (5): 464 ... "Multiple sclerosis: its effects on you and those you love" (PDF). Multiple Sclerosis Society of Canada. 2008. Retrieved 11 May ... Neild C (2009). Women's Health and Multiple Sclerosis (PDF). ISBN 978-0-921323-99-0. Multiple Sclerosis Society of Great ... October 2005). "Randomized controlled trial of an energy conservation course for persons with multiple sclerosis". Multiple ...
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 defect, ... In the fifth week of gestation, the heart undergoes multiple processes of septation and forming a dextral loop. Interfering ...
Only about half of patients have a detectable genetic abnormality, mostly in the EYA1 gene, SIX1 gene or the SIX5 gene. The ... The varying clinical expression of the disease between different families suggests that multiple loci may be involved. In 1992 ... Many different abnormalities in these genes have been identified. The genetics of branchio-oto-renal syndrome indicate it is ...
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 ...
PMID 5241942.{{cite journal}}: CS1 maint: multiple names: authors list (link) Niku M, Ilmonen L, Pessa-Morikawa T, Iivanainen A ... doi: 10.1071/RD10165) "9 - Abnormalities of Development and Pregnancy". Veterinary reproduction and obstetrics. David E. Noakes ... doi:10.1016/S0016-6480(02)00514-2. PMID 12409094.{{cite journal}}: CS1 maint: multiple names: authors list (link) In utero cell ... S2CID 43776725.{{cite journal}}: CS1 maint: multiple names: authors list (link) Ilbery PL, Williams D (1967). "Evidence of the ...
August 1995). "Leber's "plus": neurological abnormalities in patients with Leber's hereditary optic neuropathy". J. Neurol. ... "Myelocortical multiple sclerosis: a subgroup of multiple sclerosis patients with spinal cord and cortical demyelination". ... In 1996, the US National Multiple Sclerosis Society (NMSS) Advisory Committee on Clinical Trials in Multiple Sclerosis (ACCTMS ... cardiac arrythmia "Mayo Clinic: Multiple Sclerosis". "FDA approves new oral treatment for multiple sclerosis". fda.gov. ...
Concerned by the numbness, Cahalan sought out a neurologist who ran multiple inconclusive tests including two normal MRIs. ... Susannah began experiencing severe insomnia and continued behavioral abnormalities. One night at her boyfriend's apartment, she ... Cahalan describes the hospital neurologist as dismissive, and she received her first of multiple misdiagnoses: alcohol ...
This means that the spermatozoa show the same abnormality, and over 85% of spermatozoa in sperm have this abnormality. ... CS1 maint: multiple names: authors list, Articles with short description, Short description is different from Wikidata, ... PMID 17460092.{{cite journal}}: CS1 maint: multiple names: authors list (link) Vicari, Enzo; Perdichizzi, Anna; Palma, Adele De ... "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, ... CS1 maint: multiple names: authors list, Articles needing cleanup from March 2019, All pages needing cleanup, Cleanup tagged ... 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.{{cite book}}: CS1 maint: multiple names: authors list (link) Jung, Moses (1940). "Modern Marriage". ...
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 ... This includes mild, focal pigmentary abnormalities on funduscopy and widespread granular pigmented fundus alterations. Mild, ... 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.[ ...
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 ... Turi, S.; Belch, J. J.; Beattie, T. J.; Forbes, C. D. (1986). "Abnormalities of vascular prostaglandins in Henoch-Schonlein ... While abnormalities on urinalysis may continue for a long time, only 1% of all HSP patients develop chronic kidney disease. ...
Beckwith-Wiedemann syndrome Multiple abnormalities Renal cell carcinoma "Perlman syndrome". Orphanet. May 2008. Retrieved 2010- ... No chromosomal abnormalities have been observed, except for in the case of Chernos et al., which showed a de novo mutation - an ... Chernos JE, Fowler SB, Cox DM (September 1990). "A case of Perlman syndrome associated with a cytogenetic abnormality of ... During the first trimester, the common abnormalities of the syndrome observed by ultrasound include cystic hygroma and a ...
... deficiency is suspected in infants with multiple severe neurologic abnormalities in the absence of an acute metabolic ... Fumarase deficiency is characterized by polyhydramnios and fetal brain abnormalities. In the newborn period, findings include ... multiple cutaneous and uterine leiomyomatosis) could result. Click on genes, proteins and metabolites below to link to ... severe neurologic abnormalities, poor feeding, failure to thrive, and hypotonia. ...
... to diagnose fetal abnormalities. Claim 1 is illustrative: 1. A method for detecting a paternally inherited nucleic acid of ... Articles with multiple maintenance issues, 2015 in United States case law, United States patent case law, United States ... further realized in the Federal Circuit's denial of Sequenom's innovative claimed method for diagnosing fetal abnormalities. ...
Having multiple strains at the same time is common, including those that can cause cervical cancer along with those that cause ... was developed to place emphasis on the spectrum of abnormality in these lesions, and to help standardize treatment. It ... 2015: HPV Vaccine shown to protect against infection at multiple body sites. 2018: Evidence for single-dose protection with HPV ...
... and can also assess for multiple fetuses and major congenital abnormalities at an earlier stage. Research shows that routine ... Some abnormalities detected by ultrasound can be addressed by medical treatment in utero or by perinatal care, though ... Doppler sonography can be used to evaluate the pulsations in the fetal heart and bloods vessels for signs of abnormalities. ... This includes checking the status of the limbs and vital organs, as well as (sometimes) specific tests for abnormalities. ...
Multiple cerebral ischemic events may lead to subcortical ischemic depression, also known as vascular depression. This ... Brain ischemia has been linked to a variety of diseases or abnormalities. Individuals with sickle cell anemia, compressed blood ...
Peters anomaly and multiple intestinal atresias: a multiple vascular disruption syndrome". Clinical Dysmorphology. 11 (1): 67-9 ... The microcephaly, intestinal atresia and some of the eye abnormalities are observable on prenatal ultrasound. Brain MRI scans ... Less common features include an atrial septal defect, increased muscle tone or skeletal abnormalities. Physical features may ... The most common symptoms of Strømme syndrome are intestinal atresia, eye abnormalities and microcephaly. However, the syndrome ...
... multiple tumors sized 0.1 to 1.5 centimeter (cm.) in widest diameter. Two large literature review studies reported that these ... and/or routine radiographic screening that detects abnormalities such as a round, oval, or lobulated mass found on mammography ... generally show tumors with multiple circumscribed nodules of expanded ducts filled with neoplastic epithelial cells which may ...
... checks more into the current relative way of living of people and the society to correct necessary abnormalities ... rather than finding that even the most straightforward text can have multiple interpretations.[citation needed] Ágnes Heller's ...
There are multiple levels of metabolic regulation. In intrinsic regulation, the metabolic pathway self-regulates to respond to ... Evans RD, Heather LC (June 2016). "Metabolic pathways and abnormalities". Surgery (Oxford). 34 (6): 266-272. doi:10.1016/j. ... Davies O, Mendes P, Smallbone K, Malys N (April 2012). "Characterisation of multiple substrate-specific (d)ITP/(d)XTPase and ... This type of regulation often involves allosteric regulation of the activities of multiple enzymes in the pathway. Extrinsic ...
... detect fetal abnormalities, and locate blood clots without an operation. In the 1980s, PNL researchers introduced the first ... Articles with multiple identifiers, United States Department of Energy national laboratories, Federally Funded Research and ...
With the advent of multiple datasets with human pose annotated in multiple views, models which detect 3D joint positions became ... Pose estimation has been used to detect postural issues such as scoliosis by analyzing abnormalities in a patient's posture, ... When there are multiple people per image, two main techniques have emerged for grouping joints within each person. In the first ... or the 3D shape of the body from either a single or multiple images. The first deep learning models that emerged focused on ...
Some of these are associated with inherited disorders such as multiple endocrine neoplasia type 1 and Carney complex. Diagnosis ... Weber S, Habel U, Amunts K, Schneider F (2008). "Structural brain abnormalities in psychopaths-a review". Behavioral Sciences ... "Menstrual abnormalities in women with Cushing's disease are correlated with hypercortisolemia rather than raised circulating ...
This gene is a partner in a fusion gene with the BCR gene in the Philadelphia chromosome, a characteristic abnormality in ... Yu HH, Zisch AH, Dodelet VC, Pasquale EB (July 2001). "Multiple signaling interactions of Abl and Arg kinases with the EphB2 ... Wang B, Golemis EA, Kruh GD (July 1997). "ArgBP2, a multiple Src homology 3 domain-containing, Arg/Abl-interacting protein, is ...
On imaging, multiple hamartomas may look similar to metastases or microabscesses.[citation needed] Observation as there is ... Pathogenesis of ductal plate abnormalities". Mayo Clin Proc. 73 (1): 80-9. doi:10.4065/73.1.80. PMID 9443684. Horton, KM; ...
Genital abnormality can occur in the penis, scrotum or testes in males; and vagina and labia in females. Sometimes, ambiguous ... Additional dysmorphic features should be ruled out because genitalia malformations would occur if the patient has multiple ... These genetic abnormalities occur during the prenatal stage of an individuals' fetal development. During this stage, genetic ... Genetic abnormalities or environmental factors that influence these procedures may lead to the incomplete development of the ...
While its first ECG devices relied on doctors to analyze the readings, in 2015, the company received multiple clearances by the ... Doctors are alerted when a patient's device detects an abnormality. KardiaPro also tracks patient risk factors, including ... Articles with multiple maintenance issues, Medical device manufacturers, Medical technology companies of the United States). ...
Moderate and more severe zinc deficiencies are associated with behavioral abnormalities, such as irritability, lethargy, and ... For example, zinc regulates the expression of metallothionein, which has multiple functions, such as intracellular zinc ...
My coworkers and I were among the first researchers to study the abnormalities in mitochondria in the Alzheimer brain. Our ... plus multiple subsequent editions with additional authors). Dr. Blass has served on the editorial boards of 17 journals ... He and his coworkers pioneered the finding that inherent abnormalities of mitochondrial components occur in Alzheimer brain and ... Abnormality of a thiamine-requiring enzyme in patients with Wernicke-Korsakoff syndrome' (New Eng J Med 1977; 297: 1367-1370, ...
Collins-Pope syndrome Collins-Sakati syndrome Coloboma chorioretinal cerebellar vermis aplasia Coloboma hair abnormality ... Congenital craniosynostosis maternal hyperthyroiditis Congenital cystic adenomatoid malformation Congenital cystic eye multiple ...
There is some terrible abnormality here, it's like a Satanic freakshow devised by Beardsley, or by Victor Hugo, who wrote " ... Pages using multiple image with auto scaled images, Commons category link is on Wikidata, Commons category link is locally ...
The magnitude of the cutaneous reflex in leg muscles can be altered by multiple variables. The alterations are movement ... for people with gait abnormalities. Reflexes are a vital part of our everyday activities. We have all experienced how fast and ...
Fabre suggests that such representations constitute Sor Juana as a monstrosity or abnormality rather than as a complex woman. ... ISBN 978-1-4724-4407-3. OCLC 1011112232.{{cite book}}: CS1 maint: multiple names: authors list (link) Murray, Stuart (2012). ... multiple names: authors list, CS1 maint: others, CS1 errors: missing title, Articles with short description, Short description ...
These disparate explanations are not necessarily incompatible, as 'fairies' may be traced to multiple sources. A Christian ... many physiological conditions were untreatable and when children were born with abnormalities, it was common to blame the ... is a type of mythical being or legendary creature found in the folklore of multiple European cultures (including Celtic, Slavic ...
Twenty five tests were carried out on mutant mice and two significant abnormalities were observed. No homozygous mutant embryos ... additional MIT domain-containing proteins bind to multiple components of the human ESCRT III complex". Genomics. 88 (3): 333-46 ... The remaining tests were carried out on heterozygous mutant adult mice; no additional significant abnormalities were observed ...
Multiple studies used predictive markers to validate higher levels of neutralizing antibodies corresponding with lower ... which can cause serious congenital abnormalities in their children. In contrast, for HIV, the simple presence of antibodies is ...
It is part of a scientific tradition that advocates multiple perspectives, but not multiple psychologies or absolute relativism ... an outsider's view is extremely valuable when it comes to indigenous psychology because it can discover abnormalities not ... It advocates use of multiple methods. It advocates the integration of "insiders", "outsiders" and multiple perspectives to ... "not only because multiple belief systems now exist in our society, but also because counseling and psychotherapy have ...
They have multiple outpouchings which contain secretory glands, which join together with the vas deferens at the ejaculatory ... Other conditions may affect the vesicles, including congenital abnormalities such as failure or incomplete formation, and, ... cite book}}: ,last1= has generic name (help)CS1 maint: multiple names: authors list (link) Hall, John E (2016). "Function of ... multiple names: authors list, Articles with short description, Short description matches Wikidata, Good articles, Commons ...
8133-4. ISBN 978-3-85200-181-4. Bocchetta A, Loviselli A (September 2006). "Lithium treatment and thyroid abnormalities". ... Multiple chemicals in Infobox drug, Chemicals using indexlabels, Drug has EMA link, Articles containing unverified chemical ... Given that no increased risk of congenital abnormalities has been demonstrated in pregnant women taking levothyroxine, therapy ...
PET enables visual image analysis of multiple different metabolic chemical processes and is thus one of the most flexible ... and identify other abnormalities of the heart muscle itself such as infiltration with iron or amyloid protein. Disadvantages of ...
... bone abnormalities, low infant survivability, and decrease in birth rates. Some populations that have these consequences are ... Articles with multiple maintenance issues, Population genetics). ...
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 ...
1., Multiple malformations  Joint WHO/ICBDMS/ICBD Meeting on Methodology for Birth Defects Monitoring (‎1991: Sydney, ...
1., Multiple malformations  Joint WHO/ICBDMS/ICBD Meeting on Methodology for Birth Defects Monitoring (‎1991: Sydney, ...
... J Neuroimaging. 2015 Jul-Aug;25(4 ... Background: To determine if extracranial venous structural and flow abnormalities exist in patients with multiple sclerosis (MS ...
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 ... He was given multiple platelets, fresh frozen plasma and packed red blood cell transfusions. Gradually he improved and was ... renal abnormalities, cryptorchidism, hypospadias and anal atresia.2 There is no specific treatmentwas given exact an is unknown ...
MRI Useful in Detecting Bone Abnormalities in Multiple Myeloma ... MRI Useful in Detecting Bone Abnormalities in Multiple Myeloma ... 13q14 Cytogenetics Present in Half of All Multiple Myeloma Patients The Cytogenetic Abnormality, 13q14, is Present in Half of ... Because early identification of bone abnormalities may help guide treatment for patients with multiple myeloma, researchers are ... Revlimid® Treatment and Multiple Myeloma Revlimid is effective treatment for all stages of Multiple Myeloma. Understand the ...
Abnormality of multiple cell lineages in the bone marrow (HP:0012145). Annotations: Rat: (0) Mouse: (0) Human: (193) Chinchilla ...
MR identification of white matter abnormalities in multiple sclerosis: a comparison between 1.5 T and 4 T.. M D Keiper, R I ... The purpose of this study was to compare the detection of white matter abnormalities in multiple sclerosis (MS) at 1.5 T and 4 ... MR identification of white matter abnormalities in multiple sclerosis: a comparison between 1.5 T and 4 T. ... MR identification of white matter abnormalities in multiple sclerosis: a comparison between 1.5 T and 4 T. ...
Title:Explainable multiple abnormality classification of chest CT volumes with AxialNet and HiResCAM. Authors:Rachel Lea ... This work advances the clinical applicability of multiple abnormality modeling in chest CT volumes. Comments:. 25 pages, 7 ... We introduce the challenging new task of explainable multiple abnormality classification in volumetric medical images, in which ... improvement in organ localization of multiple abnormalities in the RAD-ChestCT data set of 36,316 scans, representing the state ...
A total of 20 genera were associated with multiple significant clinical indicators. For example, Blautia, Romboutsia, ... To detect GM markers for obesity in patients with different metabolic abnormalities and investigate their relationships with ... Generally, these biomarkers hold the potential to predict obesity-related metabolic abnormalities, and interventions based on ... GM classifications to distinguish between Group O and the obese patients with specific metabolic abnormalities were not ...
Neuro-ophthalmic manifestations are frequently encountered in multiple sclerosis (MS). Affected individuals may experience ... What are saccadic abnormalities in multiple sclerosis (MS)?. What are vestibular ocular reflex abnormalities in multiple ... What are ocular motility abnormalities in multiple sclerosis (MS)?. What is the role of multiple sclerosis (MS) in the ... Eye movement abnormalities in multiple sclerosis. Neurol Clin. 2010 Aug. 28 (3):641-55. [QxMD MEDLINE Link]. ...
Male Hormonal Deficiencies/Abnormalities , Female Hormonal Deficiencies/Abnormalities , Congenital Diaphragmatic Hernia , Birth ... Multiple pregnancy Yes for Multiple pregnancy exclusion criteria 6 No for Multiple pregnancy exclusion criteria 6 ... Male Hormonal Deficiencies/Abnormalities, Birth Defects, CONGENITAL ANOMALY NOS, Female Hormonal Deficiencies/Abnormalities, ... Congenital Diaphragmatic Hernia, Growth Hormone Deficiencies/Abnormalities Treatment. Fetoscopic Endoluminal Tracheal Occlusion ...
Multiple congenital abnormalities associated with cryptophthalmia. Ide CH, Wollschlaeger PB. Multiple congenital abnormalities ...
Interstitial lung abnormalities (ILAs) represent nondependent abnormalities on chest comp ... Separate multiple e-mails with a (;).. Message: Thought you might appreciate this item(s) I saw in Journal of Computer Assisted ... Interstitial lung abnormalities (ILAs) represent nondependent abnormalities on chest computed tomography (CT) indicating lung ... Interstitial lung abnormalities have been studied as a predictor of clinical outcome in lung cancer, but not in other thoracic ...
Marfan Like Syndrome With Multiple Ocular Abnormalities.. Authors: Unnisa, Syeda Meher. Kumar, K P Shravan. Bindu, P Hima. ... Marfan Like Syndrome With Multiple Ocular Abnormalities. Indian Journal of Human Genetics. 2000 Jan; 6(1): 45-49. ... An 18 year old female with multiple ocular disorders showed more or less cardinal features similar to that of an autosomal ...
This report is the first analysis assessing neurodevelopmental abnormalities possibly associated with congenital Zika virus ... This report is the first analysis assessing neurodevelopmental abnormalities possibly associated with congenital Zika virus ... Children from multiple gestation pregnancies were counted separately; infants who died during the first year of life were ... body tone abnormalities; movement abnormalities; swallowing abnormalities; possible developmental delay; possible visual ...
... ensures long-term survival in multiple myeloma treated with Total Therapy I: interpretation in the context of global gene ... Continuous absence of metaphase-defined cytogenetic abnormalities, especially of chromosome 13 and hypodiploidy, ... ensures long-term survival in multiple myeloma treated with Total Therapy I: interpretation in the context of global gene ... Continuous absence of metaphase-defined cytogenetic abnormalities, especially of chromosome 13 and hypodiploidy, ...
Of the 50 mutants with an epidermal phenotype, 9 map to human genetic conditions with skin abnormalities. Some mutant genes are ... sebaceous gland and interfollicular epidermal abnormalities using ontology terms from the Mammalian Phenotype Ontology. ... Some mutants had multiple skin phenotypes, while others were distinct. Many mice with defects in the hair growth cycle or HF ... Most of the abnormalities related to SG size (for example, Pex3−/− had small SG and Krt76−/− had large SG), but Dlg4−/− and ...
... we review previous and the most recent studies about mitochondrial dynamic abnormalities observed in various major ... it appears that mitochondria dynamic abnormalities involve a myriad of factors and interaction between multiple signaling ... Mitochondrial Dynamic Abnormalities in Alzheimers Disease (AD). AD, first reported by Dr. Alois Alzheimer, is the most ... Mitochondrial Dynamic Abnormalities in Parkinsons Disease (PD). PD, first described by James Parkinson, is the second most ...
... dental abnormalities; excessive body hair growth (hirsutism); multiple cysts on the ovaries. in females; and enlargement of the ...
A cohort may demonstrate a spectrum of conditions such as multiple lesions, concurrent, abnormalities, or underlying conditions ... The maximum value of the lesion-based abnormality score was considered the patient-based abnormality score. The number of false ... If the AI solution reported an abnormality score and marked thoracic lesion in patients with referable thoracic abnormality, it ... in identifying multiple abnormalities on chest radiographs [25, 26].. Regarding the reference standards, high-quality and ...
Abnormalities [‎4]‎. Abnormalities, Multiple [‎2]‎. ABO Blood-Group System [‎2]‎. Abortion, Habitual [‎3]‎. ...
Prognostic implications of abnormalities of chromosome 13 and the presence of multiple cytogenetic high-risk abnormalities in ... of abnormalities of chromosome 13 and the presence of multiple cytogenetic high-risk abnormalities in newly diagnosed multiple ... newly diagnosed multiple myeloma. M. Binder, S. V. Rajkumar, R. P. Ketterling, P. T. Greipp, A. Dispenzieri, M. Q. Lacy, M. A. ...
Periventricular magnetisation transfer ratio abnormalities in multiple sclerosis improve after alemtuzumab. Multiple Sclerosis ... Periventricular magnetisation transfer ratio abnormalities in multiple sclerosis improve after alemtuzumab. Open access status: ... Brown_Periventricular MTR abnormalities in MS after alemtuzumab_all files.pdf - Accepted Version Download (224kB) , Preview ... Multiple sclerosis, magnetisation transfer ratio, periventricular gradient, alemtuzumab. UCL classification:. UCL. UCL , ...
Multiple Births Depending on your infertility issues and health status, your doctor may choose to implant as many as five ... Increased Risk of Pregnancy Complications & Multifetal Abnormalities Studies show that women can experience a higher risk of ... It also requires the transfer of less embryos, decreasing the risk of multiple births. Nonetheless, due to the fact that an ... and any chromosome abnormalities that may be present in the embryos. The specific fertility problems that you are experiencing ...
Enter multiple addresses on separate lines or separate them with commas.. You are going to email the following Recurrent ... To address this issue, we first carried out a large meta-analysis of all hPSC genetic abnormalities reported in more than 100 ... Recurrent genetic abnormalities in human pluripotent stem cells: definition and routine detection in culture supernatant by ... However, genetic abnormalities can accumulate during hPSC generation and routine culture and following gene editing. Their ...
Multiple regression analysis chose mitral annulus systolic velocity (r = 0.895, P <.0001) and propagation velocity (r = 0.782, ... Multiple regression analysis chose mitral annulus systolic velocity (r = 0.895, P ,.0001) and propagation velocity (r = 0.782, ... An evaluation of the use of new Doppler methods for detecting longitudinal function abnormalities in a pacing-induced heart ...
Multiple sclerosis (MS) is an immune-mediated inflammatory disease that attacks myelinated axons in the central nervous system ... Pediatric optic neuritis: brain MRI abnormalities and risk of multiple sclerosis. Neurology. 2009 Mar 10. 72(10):881-5. [QxMD ... National Multiple Sclerosis Society (USA) Advisory Committee on Clinical Trials of New Agents in Multiple Sclerosis. Neurology ... MRI of the head of a 35-year-old man with relapsing-remitting multiple sclerosis. MRI reveals multiple lesions with high T2 ...
... the radiograph showed upper lobe abnormalities. Four patients died before diagnosis; among the 21 patients surviving to ... Cryptococcus gattii infections in Multiple States Outside the US Pacific Northwest. CME Questions. 1. You are asked to see a 40 ... Cryptococcus gattii Infections in Multiple States Outside the US Pacific Northwest On This Page ... Individual clinicians submitted multiple cases for this report, which suggests hotspots of environmental colonization, hotspots ...
White matter hemodynamic abnormalities precede sub-cortical gray matter changes in multiple sclerosis ... White matter hemodynamic abnormalities precede sub-cortical gray matter changes in multiple sclerosis. Journal of the ... of patients with clinically definite multiple sclerosis (MS) by using perfusion MRI. However, it is still unknown how early ...
  • A 7 days old male infant was referred to us with sepsis, cardiovascular shock, and multiple congenital abnormalities. (pediatriconcall.com)
  • ABSTRACT We investigated major congenital abnormalities in babies born in Al Jahra Hospital, Kuwait from January 2000 to December 2001. (who.int)
  • Parental interview and family were defined as abnormalities that impede history are often used to validate the cause the normal body functions and reduce life of congenital abnormalities. (who.int)
  • The later amination were carried out to assess the survival or reproduction of the affected in- major congenital abnormalities. (who.int)
  • and no congenital abnormalities. (babymed.com)
  • Congenital abnormalities that affect more than one organ or body structure. (bvsalud.org)
  • It is carried out to repair a range of problems, including birth defects, disease issues, and also congenital abnormalities. (flexradiowiki.com)
  • Clinical obstetrics: a South African perspective covers a wide range of topics from physiological adaptations, diagnosis and management of normal pregnancy and delivery, to teratogenesis, red cell allo-immunisation, congenital abnormalities and pre-term labour. (who.int)
  • To determine if extracranial venous structural and flow abnormalities exist in patients with multiple sclerosis (MS). (nih.gov)
  • MR identification of white matter abnormalities in multiple sclerosis: a comparison between 1.5 T and 4 T. (ajnr.org)
  • The purpose of this study was to compare the detection of white matter abnormalities in multiple sclerosis (MS) at 1.5 T and 4 T. (ajnr.org)
  • Neuro-ophthalmic manifestations frequently are encountered in persons with multiple sclerosis (MS) and other central nervous system (CNS) inflammatory disorders, including neuromyelitis optica spectrum disorders (NMOSD) and myelin oligodendrocyte glycoprotein antibody associated disease (MOGAD). (medscape.com)
  • Patients with visual disturbances in the setting of suspected or established multiple sclerosis (MS) or other CNS inflammatory disorder should be cautioned to avoid activities that present a safety risk to themselves or others. (medscape.com)
  • Multiple Sclerosis (MS) is a CNS disorder that is characterized by both inflammatory and neurodegenerative mechanisms of brain and spinal cord injury. (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 neurologic events, known as progressive relapsing MS. (medscape.com)
  • Background: In multiple sclerosis (MS), disease effects on magnetisation transfer ratio (MTR) increase towards the ventricles. (ucl.ac.uk)
  • Multiple sclerosis (MS) is diagnosed on the basis of clinical findings and supporting evidence from ancillary tests, such as magnetic resonance imaging (MRI) of the brain and spinal cord and cerebrospinal fluid examination. (medscape.com)
  • BACKGROUND: Hypoperfusion has been reported in lesions, normal-appearing white (NAWM) and gray matter (NAGM) of patients with clinically definite multiple sclerosis (MS) by using perfusion MRI. (uea.ac.uk)
  • If you experience side effects, a doctor may recommend the following strategies that can help, according to the Multiple Sclerosis Association of America (MSAA) . (healthline.com)
  • Values obtained by two different readers in non Gd-enhancing and T1-weighted isointense (C3) and non Gd-enhancing and T1-weighted hypointense (C4) T2-weighted hyperintense lesions from 38 patients with Relapsing-Remitting Multiple Sclerosis. (biomedcentral.com)
  • Diets high in guar gum, a dietary fiber and common food additive extracted from guar beans, limit inflammation and delay the onset of multiple sclerosis in mouse models. (neurosciencenews.com)
  • Diets high in guar gum, a common food additive and dietary fibre, limited inflammation and delayed the onset of multiple sclerosis (MS) symptoms in mice, according to new research by members of the University of British Columbia (UBC) Microbiology and Immunology department. (neurosciencenews.com)
  • An unusual walking pattern can be caused by diseases of the central nervous system (such as cerebral palsy , Parkinson's disease, or multiple sclerosis), or be the result of an injury or deformity in the brain, spinal cord, legs, feet, or inner ear. (akronchildrens.org)
  • The most recent diagnostic criteria for multiple sclerosis (MS) ascertain that findings from spinal cord MRI can be used to demonstrate dissemination in space. (neurology.org)
  • Multiple sclerosis (MS) is aptly named for the many scars it produces in the brain and spinal cord. (altmedrev.com)
  • To explore the hypothesis that B cells of patients with multiple sclerosis secrete soluble products damaging to oligodendroglia (OL), in collaboration with Dr. Bar-Or at Montreal Neurologic Institute, we compared secretory products of cultured B cells from relapsing remitting multiple sclerosis (RRMS) patients and healthy controls. (jns-journal.com)
  • Proton magnetic resonance spectroscopy in multiple sclerosis. (jns-journal.com)
  • Neuromuscular diseases like multiple sclerosis. (who.int)
  • Three B-readers (experts in reading chest radiographs for lung abnormalities) found that 994 of those 5,590 participants (or 18% of those x-rayed) had abnormalities in the lining of their lungs (pleural abnormalities). (cdc.gov)
  • The risk of pleural abnormalities increased with increasing age and increasing length of residence in the Libby area. (cdc.gov)
  • Forty-eight percent (159 of 328) of former W.R. Grace employees had pleural abnormalities. (cdc.gov)
  • For example, 24% of participants who reported six or more routes of exposure had pleural abnormalities. (cdc.gov)
  • Five percent (6 of 122) of those participants who reported no apparent exposure had pleural abnormalities. (cdc.gov)
  • Factors most strongly related to having pleural abnormalities were having been a W.R. Grace/Zonolite worker, having household contact with a W.R. Grace/Zonolite worker, and being a male. (cdc.gov)
  • Pleural abnormalities and exposure to elongate mineral particles in Minnesota iron ore (taconite) workers. (cdc.gov)
  • Pleural abnormalities were found in 16.8% of workers. (cdc.gov)
  • There was an association of pleural abnormalities with cumulative EMP exposure that was not specific to the eastern portion of the range. (cdc.gov)
  • Conclusion: There was evidence of a mild to moderate increase in pleural abnormalities in this population of miners, associated with geographically non-specific cumulative EMP exposure. (cdc.gov)
  • Methods: We obtained posteroanterior chest radiographs to identify the prevalence of pleural abnormalities consistent with pneumoconiosis, as determined by consensus of two National Institute for Occupational Safety and Health-certified B-reader radiologists. (cdc.gov)
  • We modeled associations between pleural abnormalities and asbestos exposure using multiple logistic regression to adjust for year of birth, sex, and potential occupational asbestos exposure. (cdc.gov)
  • Metabolic, Reproductive, and Neurologic Abnormalities in Agpat1-Null Mice. (nih.gov)
  • A wide range of neurologic abnormalities, in addition to microcephaly, has been observed among infants with presumed or confirmed congenital Zika virus infection ( 2 , 4 ). (cdc.gov)
  • The patient had a complicated hospitalization, with development of neurologic abnormalities, including confusion, headache, and left foot drop. (medscape.com)
  • IMSEAR at SEARO: Marfan Like Syndrome With Multiple Ocular Abnormalities. (who.int)
  • Unnisa Syeda Meher, Kumar K P Shravan, Bindu P Hima, Prasad Shyam Sundar, Vishnupriya S, Rao P Hanmanth, Padma T. Marfan Like Syndrome With Multiple Ocular Abnormalities. (who.int)
  • The prevalence of ocular abnormalities in normal group was 19.4%, which was significantly lower than that in thalassemia patients ( P = 0.000). (ijo.in)
  • No significant correlation was found between ocular abnormalities and mean serum ferritin level ( P = 0.627) and mean hemoglobin concentration ( P = 0.143). (ijo.in)
  • Correlation of number of blood transfusion with the presence of ocular abnormalities was found to be statistically significant ( P = 0.005). (ijo.in)
  • This study was conducted to assess the prevalence of ocular abnormalities in multi-transfused beta-thalassemia patients and to determine their relationship with serum ferritin level, hemoglobin concentration, and the type, dosage, and duration of chelation therapy. (ijo.in)
  • As with other dental abnormalities, talon cusp development occurs during the morpho-differentiation stage of odontogenesis 7 . (bvsalud.org)
  • Therefore, they don't do a good job of floating their own teeth, and small dental abnormalities that would self-correct on a tough grass mustang diet become serious dental issues without regular dental care in our horses living in confinement. (highdesertequine.com)
  • Zika virus infection during pregnancy can cause serious birth defects and might be associated with neurodevelopmental abnormalities. (cdc.gov)
  • Zika virus infection during pregnancy causes serious birth defects and might be associated with neurodevelopmental abnormalities in children. (cdc.gov)
  • Receipt of reported follow-up care was assessed, and data were reviewed to identify Zika-associated birth defects and neurodevelopmental abnormalities possibly associated with congenital Zika virus infection. (cdc.gov)
  • is a nonrandom association of birth defects that affects multiple organ systems. (babycenter.com)
  • According to an article recently published in the Journal of Clinical Oncology , the use of magnetic resonance imaging (MRI) appears to be more effective than standard bone testing in detecting bone abnormalities in patients with multiple myeloma. (cancerconnect.com)
  • Multiple myeloma is a cancer of the blood that affects the plasma cells. (cancerconnect.com)
  • Multiple myeloma is characterized by an excess production of abnormal plasma cells. (cancerconnect.com)
  • Multiple myeloma also affects the bone in the majority of individuals. (cancerconnect.com)
  • The fact that standard tests, such as X-rays or blood tests, do not appear to effectively identify bone complications until they are advanced puts patients with multiple myeloma at further risk of significant bone issues. (cancerconnect.com)
  • Because early identification of bone abnormalities may help guide treatment for patients with multiple myeloma, researchers are evaluating the most effective ways to determine if bone abnormalities are present among patients with all stages of multiple myeloma. (cancerconnect.com)
  • Researchers from the University of Arkansas recently conducted a clinical trial to evaluate the effectiveness of MRI in detecting bone abnormalities among patients with multiple myeloma. (cancerconnect.com)
  • Patients with multiple myeloma may wish to speak with their physician regarding their individual risks and benefits of using MRI. (cancerconnect.com)
  • Magnetic resonance imaging in multiple myeloma: diagnostic and clinical implications. (cancerconnect.com)
  • Continuous absence of metaphase-defined cytogenetic abnormalities, especially of chromosome 13 and hypodiploidy, ensures long-term survival in multiple myeloma treated with Total Therapy I: interpretation in the context of global gene expression. (uams.edu)
  • This phase I trial studies the safety of SVN53-67/M57-KLH peptide vaccine in incomplete Freund's adjuvant together with sargramostim in treating patients with newly diagnosed multiple myeloma who are receiving lenalidomide maintenance therapy. (clinicaltrials.gov)
  • Giving SVN53-67/M57-KLH peptide vaccine in incomplete Freund's adjuvant and sargramostim before or after the start of lenalidomide maintenance therapy may be a better treatment for multiple myeloma. (clinicaltrials.gov)
  • I. To determine the toxicity profile of the SVN53-67/M57-KLH peptide (SVN53-67/M57-KLH peptide vaccine) in Montanide ISA 51 (incomplete Freund's adjuvant) plus GM-CSF (sargramostim) (vaccine), given before or after the start of lenalidomide maintenance in patients with multiple myeloma. (clinicaltrials.gov)
  • I. To collect preliminary data on therapeutic efficacy of this combination against multiple myeloma, including response rate, time to progression and disease progression slope. (clinicaltrials.gov)
  • There are persistent disparities in multiple myeloma (MM) care for non-Hispanic (NH)-Blacks and Hispanics compared with NH-Whites, according to a study published online July 18 in Leukemia & Lymphoma . (docwirenews.com)
  • The rising burden of multiple myeloma in Kenya has not been met by a commensurate effort for control. (panafrican-med-journal.com)
  • The Academic Model Providing Access To Healthcare (AMPATH) multiple myeloma program organized the Inaugural Virtual Multiple Myeloma Congress to achieve both interactive specialist instruction and stakeholder engagement. (panafrican-med-journal.com)
  • an increasing number of new multiple myeloma (MM) cases has been documented. (panafrican-med-journal.com)
  • Prognostic role of TNF alpha, LT alpha, MDR1 and codon 72 Tp53 gene polymorphisms on multiple myeloma Egyptian patients. (cdc.gov)
  • Therefore, novel methods for noninvasive definitive diagnosis of fetal genetic abnormalities are needed. (scitechdaily.com)
  • The impact of early diagnosis of fetal cardiac abnormalities on the postnatal outcome has been controversial in literature. (springeropen.com)
  • Because little is known about the prevalence and characteristics of cord lesions early in the disease, the authors studied the prevalence of spinal cord abnormalities in patients with early-stage MS and assessed their impact on diagnostic classification. (neurology.org)
  • The highest prevalence for single and multiple infections, as well as for high-risk infections, was reported for the youngest age group (less than 30 years). (who.int)
  • While it is relevant to implement an HPV vaccine campaign in Viet Nam due to the high prevalence of infection with HPV 16 and/or 18, it is important to note that one can be infected with multiple types of HPV. (who.int)
  • She also developed renal failure that required hemodialysis, and multiple infections, including methicillin-sensitive Staphylococcus aureus and methicillin-resistant S aureus (MRSA) bacteremia , E coli pneumonia , and urinary tract infection (UTI) secondary to Klebsiella pneumoniae . (medscape.com)
  • The detection of fetal abnormalities in the first and second trimesters is increasingly common due to advances in technology. (fiapac.org)
  • They are used to look for fetal abnormalities, to detect multiple pregnancies and to determine the position and size of the baby. (babilorentz.com)
  • There are many types of gait abnormalities, each with their own name and list of possible causes. (akronchildrens.org)
  • Gait abnormalities are common in young children. (akronchildrens.org)
  • People with gait abnormalities can be very independent, but they are at higher risk for falls and other injuries. (akronchildrens.org)
  • She didn't have the urinary incontinence and gait abnormalities seen in normal-pressure hydrocephalus. (washingtonpost.com)
  • The best time for the first assessment of craniofacial abnormalities is within your child's first few weeks of life. (uhhospitals.org)
  • A genetic counselor also counsels your family on risk for craniofacial abnormalities to happen in future pregnancies. (uhhospitals.org)
  • We evaluated a commercially available AI solution intended to facilitate the detection of three chest abnormalities (nodule/masses, consolidation, and pneumothorax) against a reference standard to measure its diagnostic performance. (springer.com)
  • The detection or localization of referable thoracic abnormalities by pulmonologists and radiology residents improved with the use of AI assistance. (springer.com)
  • We aimed to evaluate the role of fetal echocardiography (FE) as a diagnostic tool for early detection and proper management of fetal cardiac abnormalities, study the indications of referral and detect the perinatal outcome in our institution. (springeropen.com)
  • Multiplex PCR - such panels to look at multiple mutations now allow detection of many molecular abnormalities from one test - they are more sensitive, need less sample, faster and cost effective. (shyamhemoncclinic.com)
  • Beginning with biological factors, "ASD abnormalities may result in abnormal mechanisms for brain development which may lead to structural and functional brain abnormalities," a peer reviewed article by the American Speech-Language-Hearing Association claims. (bartleby.com)
  • Procedures shall include reconstruction of the multiple anomalies and resection of abnormal tissues, wound coverage, scar and contracture treatment, and ultimately allowing joint activities, muscle strength and limb functions to return to normal. (cmu.edu.tw)
  • At the end of each clinic, we sat down and went over all the patients' smears, the normal ones and the abnormal ones, which made me realize the importance of examining numerous normal smears in order to accurately identify abnormalities. (hematology.org)
  • Abnormal uterine findings were de Recherche et d'Application en identified in 95.8% of patients attending hysteroscopy at GESHRTH. (who.int)
  • It also discusses the risks involved in poor progress in labour, abnormal fetal lie and presentation, viral infections and multiple pregnancies. (who.int)
  • These lesions were frequently (n = 48) identified in large confluent areas of white matter signal intensity abnormality at 1.5 T. All observers also agreed that 4-T images subjectively enhanced the perception of normal perivascular spaces and small perivascular lesions. (ajnr.org)
  • A cohort may demonstrate a spectrum of conditions such as multiple lesions, concurrent, abnormalities, or underlying conditions, such as inflammatory sequelae masking concomitant referable thoracic abnormalities. (springer.com)
  • Focal cord lesions were often multiple (median number, 3.0), small (median, 0.8 vertebral segments), and primarily (56.4%) situated in the cervical spinal cord. (neurology.org)
  • The inflammatory chorioretinopathies, or white dot syndromes, are a heterogeneous group of inflammatory disorders with overlapping clinical features that share the presence of discrete, multiple, well-circumscribed, yellow-white lesions at the level of the retina, outer retina, RPE, choriocapillaris, and/or choroid during some phase of their course. (aao.org)
  • Some affected individuals have intermittent redness or experience outbreaks of a distinctive skin abnormality called ichthyosis linearis circumflexa, involving patches of multiple ring-like lesions. (medlineplus.gov)
  • To detect GM markers for obesity in patients with different metabolic abnormalities and investigate their relationships with clinical indicators, 1,914 Chinese adults were enrolled for 16S rRNA gene sequencing in this retrospective study. (nature.com)
  • Nonetheless, GM classifications to distinguish between Group O and the obese patients with specific metabolic abnormalities were not accurate (AUC values from 0.59 to 0.66). (nature.com)
  • Generally, these biomarkers hold the potential to predict obesity-related metabolic abnormalities, and interventions based on these biomarkers might be beneficial to weight loss and metabolic risk improvement. (nature.com)
  • However, how the gradual changes in the GM 21 during weight gain and the onset of metabolic abnormalities in obesity is still unclear. (nature.com)
  • Diabetes mellitus is a metabolic disorder of multiple etiology, characterized by chronic hyperglycaemia with disturbances of carbohydrate, fat and protein metabolism resulting from defects in insulin secretion, insulin action, or both. (who.int)
  • Multiple metabolic abnormalities associated with insulin resistance and increased cardiovascular risk such as dyslipidaemia, obesity and hypertension are already present at diagnosis. (who.int)
  • Of the 50 mutants with an epidermal phenotype, 9 map to human genetic conditions with skin abnormalities. (nature.com)
  • After infancy, the severity of the skin abnormalities varies among people with Netherton syndrome and can fluctuate over time. (medlineplus.gov)
  • As a result, too much skin shedding takes place, and the stratum corneum is too thin and breaks down easily, resulting in the skin abnormalities that occur in Netherton syndrome. (medlineplus.gov)
  • Skin abnormalities (skin malignancy in the treated area or burned). (who.int)
  • 2 . CLL: FISH test for various abnormalities helps in deciding prognosis and resistance to certain drugs. (shyamhemoncclinic.com)
  • FISH is more sensitive than routine cytogenetics for various abnormalities, and is faster as well. (shyamhemoncclinic.com)
  • Tests to determine functional or structural abnormalities may include imaging studies of the chest, EKG and echocardiogram. (cdc.gov)
  • Congenital heart defects (CHDs) in 34.6%, fetal arrythmias in 9.9%, cardiomyopathy in 2.9% and cardiac mass (Rhabdomyoma) in 1% (combined structural and rhythm abnormalities were observed in two fetuses). (springeropen.com)
  • Evidence of previous vertebral fractures or major spinal structural abnormality, spondylolisthesis or spinal stenosis. (who.int)
  • This work advances the clinical applicability of multiple abnormality modeling in chest CT volumes. (arxiv.org)
  • Interstitial lung abnormalities (ILAs) represent nondependent abnormalities on chest computed tomography (CT) indicating lung parenchymal damages due to inflammation and fibrosis. (lww.com)
  • We aim ed to evaluate a commercial artificial intelligence (AI) solution on a multicenter cohort of chest radiographs and to compare physicians' ability to detect and localize referable thoracic abnormalities with and without AI assistance. (springer.com)
  • AI assistance for chest radiographs marginally improved physicians' performance in detecting and localizing referable thoracic abnormalities on chest radiographs. (springer.com)
  • In a study by Hwang et al [ 14 ], the application of the DL algorithm in emergency cohort datasets for the identification of clinically relevant abnormalities on chest radiographs resulted in an AUC, sensitivity, and specificity of 0.95, 0.816-0.887, and 0.692-0.903, respectively. (springer.com)
  • Positron emission tomography / computed tomography (PET/CT) were applied to value multiple lymphadenopathies of the patient, including right jaw, bilateral cervical, right supraclavicular area, bilateral armpit, bilateral chest muscle, hilar, bilateral internal mammary, inferior vena cava on the diaphragm, etc. (researchsquare.com)
  • Abortions for fetal abnormality are statistically rare, therefore there is little societal understanding and minimal support for those who experience them. (fiapac.org)
  • The number of fetuses with cardiac abnormalities was significantly higher than those without cardiac abnormalities in mothers not exposed to perinatal risk factors ( p = 0.009) and was statistically lower in mothers exposed to perinatal risk factors ( p = 0.005). (springeropen.com)
  • A total of 20 genera were associated with multiple significant clinical indicators. (nature.com)
  • Interstitial lung abnormalities have been studied as a predictor of clinical outcome in lung cancer, but not in other thoracic malignancies. (lww.com)
  • The clinical definition of multiple system atrophy (MSA) is a progressive, idiopathic, degenerative process beginning in adulthood, manifesting in various degrees of autonomic failure, parkinsonism, cerebellar dysfunction, and pyramidal signs that are poorly responsive to levodopa or dopamine agonists. (medscape.com)
  • In systemic diseases with microvasculature damage as a prominent feature, abnormalities of nailfold capillaries can be appreciated before the onset of clinical disease. (cdriadvlkn.org)
  • This article seeks to give a comprehensive review of oral PG with its etiology, clinical features, treatment, and multiple differential diagnoses. (srmjrds.in)
  • This case describes a unique surgical challenge in a PD patient with multiple cervical fractures, compromised bone quality, and spasmodic torticollis. (hindawi.com)
  • Of the 49 babies with multiple malformations, 21 (42.8%) had recog- nized syndromes, most of which were autosomal recessive and 17 had chromosomal aberrations. (who.int)
  • 1000 naissances) : 49 (50,6 %) des bébés avaient des malformations multiples, tandis que 48 (49,4 %) avaient des anomalies touchant un seul système. (who.int)
  • Sur les 49 bébés ayant des malformations multiples, 21 (42,8 %) avaient des syndromes reconnus, dont la plupart étaient récessifs autosomiques, et 17 avaient des aberrations chromosomiques. (who.int)
  • Interstitial lung abnormality was scored on baseline CT scans before treatment using a 3-point scale (0 = no evidence of ILA, 1 = equivocal for ILA, 2 = ILA). (lww.com)
  • Interstitial lung abnormality was not associated with overall survival (log-rank P = 0.75, Cox P = 0.613). (lww.com)
  • Interstitial lung abnormality was strongly associated with a lack of surgical resection after chemoradiotherapy, indicating an implication of ILA in treatment selection in these patients, which can be further studied in larger cohorts. (lww.com)
  • The often brief, stereotyped premonitory symptoms (aura) at the onset of some seizures may localize the central nervous system (CNS) abnormality responsible for seizures. (mhmedical.com)
  • We then developed a test based on the droplet digital PCR technology that can potentially detect 94.3% of these hPSC recurrent genetic abnormalities in DNA extracted from culture supernatant samples. (biorxiv.org)
  • The CBC with differential, the RDW, erythrocyte indices and peripheral blood smear can help identify and characterize anemias, distinguish thalassemias from hemoglobinopathies and detect other abnormalities related to the differential diagnoses for cyanosis. (cdc.gov)
  • We introduce the challenging new task of explainable multiple abnormality classification in volumetric medical images, in which a model must indicate the regions used to predict each abnormality. (arxiv.org)
  • Dietary fibres are potent modulators of immune responses and can control inflammation in multiple diseases, but they're a very biochemically diverse family. (neurosciencenews.com)
  • Abnormalities of almost any of its parts or processes have profound effects on multiple other body areas, exemplified by the process of inflammation. (lyonscreekdentalcare.com)
  • In addition, to the above mentioned features, affected children may also exhibit less frequent abnormalities including growth deficiencies and failure to gain weight and grow at the expected rate (failure to thrive). (babycenter.com)
  • Among children aged ≥1 year born in U.S. territories and freely associated states to mothers with laboratory evidence of confirmed or possible Zika virus infection during pregnancy and who had follow-up care reported, 6% had a Zika-associated birth defect, 9% had ≥1 neurodevelopmental abnormality possibly associated with congenital Zika virus infection, and 1% had both. (cdc.gov)
  • Among evaluated children, 6% had at least one Zika-associated birth defect identified, 9% had at least one neurodevelopmental abnormality possibly associated with congenital Zika virus infection identified, and 1% had both. (cdc.gov)
  • One in seven evaluated children had a Zika-associated birth defect, a neurodevelopmental abnormality possibly associated with congenital Zika virus infection, or both reported to the USZPIR. (cdc.gov)
  • Based on the fact that ASD is a neurodevelopmental disorder, there have been multiple studies researching the neuroanatomical abnormalities found in ASD individuals. (bartleby.com)
  • Undiagnosed male, age 3, with neurodevelopmental delay, previously refractory focal epilepsy that is now well controlled, brain MRI abnormalities, and other physical differences related to the eyes, ears, and nose. (harvard.edu)
  • Central neurological abnormalities and multiple chemical sensitivity caused by chronic toluene exposure. (bvsalud.org)
  • Associated neuromuscular changes from focal myopathy to dystonia can contribute to the development of spinal malalignment issues in multiple planes [ 7 - 9 ]. (hindawi.com)
  • Overall, we propose the first model for explainable multi-abnormality prediction in volumetric medical images, and then use the mask loss to achieve a 33% improvement in organ localization of multiple abnormalities in the RAD-ChestCT data set of 36,316 scans, representing the state of the art. (arxiv.org)
  • The cause of multiple system atrophy (MSA) remains unknown, and no current therapy can reverse or halt progression of the disease. (medscape.com)
  • However, genetic abnormalities can accumulate during hPSC generation and routine culture and following gene editing. (biorxiv.org)
  • To address this issue, we first carried out a large meta-analysis of all hPSC genetic abnormalities reported in more than 100 publications and identified 738 recurrent genetic abnormalities (i.e., overlapping abnormalities found in at least five distinct scientific publications). (biorxiv.org)
  • The development of the brain is key and problems arise with genetic code development involving multiple brain regions, this can also include the frontal and anterior temporal lobes, caudate, and cerebellum. (bartleby.com)
  • CMUH has even integrated the momentum of the Precise Medical Center in genetic research to propose comprehensive solutions for treatment of multiple anomalies, hopefully benefitting a great number of children suffering from similar illness. (cmu.edu.tw)
  • Subsequent imaging by MRI at 7 weeks and by MRI and MRA at 4 months also noted multiple regions with asymmetry (right smaller than left), a pituitary abnormality, and vascular anomaly. (harvard.edu)
  • This percentage increased to 84.6% when spinal cord MRI abnormalities were also included. (neurology.org)
  • Spinal cord abnormalities are prevalent in patients with early-stage MS, have distinct morphologic characteristics, and help to determine dissemination in space at time of diagnosis. (neurology.org)
  • The Center for Asbestos Related Disease (CARD clinic) at St. Johns' Lutheran Hospital (SJLH) will continue providing follow-up diagnostic evaluations for individuals with potential exposures and those with identified x-ray abnormalities. (cdc.gov)
  • Her normal blood pressure, absence of obvious heart disease and lack of a smoking history made multiple mini-strokes unlikely. (washingtonpost.com)
  • Unique geographic distribution of the disease is best attributed to some combination of vitamin D abnormality and dietary patterns. (altmedrev.com)
  • Mirada Oncology Fusion is an integrated multiple modality software application for the evaluation of oncologic disease. (medical.canon)
  • However, depending on the severity of the skull abnormality, recommendations on when to surgically intervene vary among craniofacial surgeons. (medindia.net)
  • PD is also often associated with nonmotor symptoms including fatigue, sensory abnormalities, autonomic dysfunction, and psychological and behavioral changes [ 3 ]. (hindawi.com)
  • Diffuse cord abnormalities were found in 13% of patients, although in isolation they were found in only three patients. (neurology.org)
  • Some data support the idea that higher titers of anti-ADAMTS13 autoantibodies (as in this patient) place patients at greater risk for complications and multiple exacerbations. (medscape.com)
  • correlating physiological and behavioral abnormalities in multiple allelic strains will ultimately facilitate determining which alterations of physiology are responsible for specific behavioral aberrations. (eur.nl)