Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0917816 (mental retardation)
 15,867 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Moyamoya syndrome is defined as the development of collateral anastomosis pathways at the base of the brain, associated with chronic progressive stenosis of the carotid fork. Both reconstructive vascular surgery and conservative strategies are used to treat this syndrome, but the latter cannot prevent the disease from progressing. We describe the procedure of encephalo-duro-arterio-myo-synangiosis (EDAMS), and report the results in 17 patients (28 sides) who underwent EDAMS. The clinical symptoms of moyamoya disease include transient ischemic attacks, reversible ischemic neurological deficits, stroke, seizures, Gerstmann's syndrome, involuntary movements, or mental retardation resulting from the lack of cerebral blood flow. The clinical results of EDAMS were poor in one patient, fair in two, good in five, excellent in eight, and fair on one side and excellent on the other side in one patient. Postoperative angiograms showed widespread collateral circulation on the ischemic brain surface in patients undergoing EDAMS.
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PMID:Surgical treatment of moyamoya disease: operative technique for encephalo-duro-arterio-myo-synangiosis, its follow-up, clinical results, and angiograms. 847 42

Carbohydrate-deficient glycoprotein syndrome is characterized by mental retardation, ataxia, hepatopathy during infancy, cerebellar hypoplasia, peripheral neuropathy, internal strabismus, growth retardation and stroke-like episodes. Since the description of female siblings with unique clinical and biochemical features by Jaeken (1980) and the discovery of unique isoforms of serum transferrin in the patients by Jaeken (1984), more than 120 patients have been diagnosed. The biochemical marker is asialo- and disialo-transferrin. We have found the first Japanese patients and, through analysing serum glycoproteins from these patients, we was noted that multiple serum glycoproteins contain abnormal fractions, on isoelectric focusing. By analysing the sugar chain of transferrin, we have found that the abnormality is caused by a defect in the transfer of asparagine-N-linked oligosaccharide. Recently, two clinical and biochemical variants have been reported. One, characterized by severe mental retardation, no cerebellar hypoplasia, no peripheral neuropathy, diasirotransferrin dominancy, has proven to have a deficiency of N-acetylglucosaminyltransferase II, by Jaeken (1993).
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PMID:[Carbohydrate-deficient glycoprotein syndrome]. 857 56

Mitochondrial encephalomyopathy is a hereditary syndrome showing impairment of muscle and the central nervous system. In this disorder, the following three syndromes have been identified on the basis of characteristic symptoms: Kearns-Sayre syndrome (KSS), mitochondrial encephalomyopathy with lactic acidosis, and stroke-like episodes (MELAS), and myotonic epilepsy with ragged-red fibers (MERRF). In this report, we describe a case of mitochondrial encephalomyopathy with renal disease. A 25-year-old man was referred to our hospital in May, 1992 for evaluation of long-standing proteinuria. He had a small stature, exotropia and no pretibial edema. No mental retardation was observed. Urinary protein excretion was 2.0 g/day and urine sugar was negative. Laboratory examination revealed a serum urea nitrogen 19 mg/dl, and a creatinine value of 1.5 mg/dl. Creatinine clearance was 45.8 ml/min. His serum and spinal fluid lactate value were elevated. Biopsied muscle showed an absence of ragged-red fibers, and the presence of an A-to-G point mutation at nucleotide pari 3243 in the mitochondrial tRNA(Leu(UUR)) in peripheral blood leucocytes. He was thought to have MELAS. On the renal biopsy specimens, light microscopic examinations showed minor glomerular abnormalities with two glomerular collapses and tubulo-interstitial damage. Electron microscopic examinations showed partial thickening of the glomerular basement membrane. We report here this rare case of MELAS with renal disease, and also review seventeen cases of mitochondrial encephalopathy associated with renal disease. The existence of a relationship between mitochondrial disorder and renal damage remains obscure.
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PMID:[A case of mitochondrial encephalomyopathy (MELAS)]. 871 14

Foix-Chavany-Marie syndrome (FCMS) is characterized by facio-linguo-masticatory diplegia in the absence of limb weakness. The most common cause is a cortical lesion resulting from a stroke but a congenital form has been reported. We present the case of a 53-year-old man who was admitted to hospital with worsening dysphagia which was know to have been present together with anarthria and facial palsy, since birth. He demonstrated features of FCMS with pseudobulbar palsy and unaffected reflexes and automatic responses. Cranial CT and MRI scans showed bilateral opercular lesions of CSF intensity in continuity with the lateral ventricles. We conclude that this case of static FCMS for over 50 years may represent a 'pure' form of congenital FCMS with motor symptomatology and unaccompanied by mental retardation or epilepsy.
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PMID:Pure congenital Foix-Chavany-Marie syndrome. 935 33

The purpose of the National Exposure Registry is to assess the long-term health consequences to a general population from long-term, low-level exposures to specific substances in the environment. This study investigates the health outcomes of 1,143 persons (1,127 living, 16 deceased) living in south central Texas who had documented environmental exposure to benzene (up to 66ppb) in tap water. As with all subregistries, face-to-face interviews were used to collect self-reported information for 25 general health status questions. Using computer-assisted telephone interviewing, the same health questions were asked 1 year (Followup 1, F1) and 2 years later (Followup 2, F2). The health outcome rates for Baseline and Followup 1 and 2 data collections for the Benzene Subregistry were compared with national norms, that is, the National Health Interview Survey (NHIS) rates. For at least one of the three reporting periods, specific age and sex groups of the Benzene Subregistry population reported more adverse health outcomes when compared with the NHIS population, including anemia and other blood disorders, ulcers, gall bladder trouble, and stomach or intestinal problems, stroke, urinary tract disorders, skin rashes, diabetes, kidney disease, and respiratory allergies. Statistically significant deficits for the Benzene Subregistry population overall were found for asthma, emphysema, or chronic bronchitis; arthritis, rheumatism, or other joint disorders; hearing impairment; and speech impairment. No statistically significant differences between the two populations were seen for the outcomes hypertension; liver disease; mental retardation; or cancer. These results do not identify a causal relationship between benzene exposure and adverse health effects; however, they do reinforce the need for continued followup of registrants.
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PMID:The National Exposure Registry: analyses of health outcomes from the benzene subregistry. 956 45

Our objective was to test a hypothesis that subtle brain abnormality can be present in pediatric sickle cell disease (SCD) patients who are clinically free of stroke. We prospectively compared 50 patients with 52 healthy age-similar controls, using quantitative magnetic resonance imaging. A previously validated precise and accurate inversion-recovery method was used to measure T1 in a slice at the basal ganglia. We also used the Wechsler test to measure intelligence quotient (IQ) in a randomly selected subset of 27 patients. Brain T1 was significantly lower in patients in every gray matter structure evaluated but in none of the white matter structures. Regression suggests that T1 in caudate, nucleus pulvinares, and cerebral cortex was abnormal by age 4 years. Psychometric testing showed that 33% of patients were functioning in the range of mild mental deficiency (IQ, 50-70), compared with a published prevalence of 1.45% in inner-city black children. Thus, in our patients, SCD was associated with a 23-fold increase in the risk of mild mental deficiency. Full-scale IQ of SCD patients was a function of hematocrit (Hct), and when Hct was used to stratify patients, those with an Hct of less than 27% had significantly lower psychometric test scores, and significantly lower gray matter T1, than those with an Hct of 27 or more. Both cognitive deficits and subtle T1 abnormalities were associated with a low Hct, and both could be present when conventional magnetic resonance imaging findings were normal. Our findings suggest that chronic hypoxia of brain tissue can occur in SCD patients free of clinical stroke.
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PMID:Subtle brain abnormalities in children with sickle cell disease: relationship to blood hematocrit. 1066 9

Basal ganglia calcification (BGC) is now being diagnosed with increasing frequency with widespread application of computed tomography (CT) in clinical practice and is no more considered a rarity. During the period 1987 to 1995, 42 patients were noted to have BGC and it constituted 0.93% of all CT scan of brain carried out during the relevant period. These patients presented with diverse neurological and endocrine disorders i.e., epilepsy (22 patients), mental retardation (five patients), extra-pyramidal syndromes (five patients), abnormal behaviour (three patients), stroke (two patients), raised intracranial tension without localizing signs (one patient), following radiotherapy (one patient), and with hypoparathyroidism (three patients). These patients were noted to have variable degree of calcification in different parts of brain i.e., basal ganglia (42 cases), cerebellum (12 cases) and cerebral cortex (nine cases). Family history of a neurological disorder was available in five patients. This study highlights the fact that calcification of basal ganglia and other parts of the brain is often a nonspecific finding on CT scan and it may not be possible to establish a clinicopathological correlation.
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PMID:Basal ganglia calcification. 1077 62

Many of the risk factors previously identified for disorders such as Alzheimer's disease, periventricular leukomalacia, multiple sclerosis, stroke, cerebral palsy, mental retardation, and acquired learning and attention disorders ultimately may be shown to damage the central and peripheral nervous systems through activation of inflammatory mediators. The challenge to epidemiologists in the future is to expand use of epidemiologic methods to explore how immune-mediated insults produce CNS disorders in human populations. Studies of the association of use of nonsteroidal anti-inflammatory drugs with risk of Alzheimer's disease and those of the association of immune parameters with risk of cerebral palsy are excellent examples of how epidemiology can contribute to our understanding of the causes of neurologic and/or neurodevelopmental disorders. Many of the immune parameters of interest have short half-lives and are difficult to measure outside of the laboratory setting. Questions also remain as to the proper timing of measurements in relation to the initial insult and, in some cases, which tissue is the most appropriate to sample. These measurement issues will need to be resolved before use of immune biomarkers in epidemiologic studies of the etiologies of neurologic disorders can be fully realized. Epidemiologists are most likely to help identify ways to prevent neurologic disorders if they are knowledgeable about the molecular biology of inflammation, modulators of CNS vulnerability, and genetic polymorphisms that influence both inflammation and CNS vulnerability and are prepared to become adept at biomarker epidemiology. This does not necessarily compel them to gain extensive knowledge of neurobiology. Rather, neuroepidemiology in the 21st century will require increased collaboration between epidemiologists, neurologists, and neurobiologists.
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PMID:New research directions in neuroepidemiology. 1093 3

We report a 26-year-old woman who showed recurrent migrainous attacks and convulsions since her childhood. Neurological examination revealed no focal abnormality except mental retardation (MR). T2-and fluid-attenuated inversion-recovery (FLAIR)-weighted brain MRI revealed apparent high intensities in the deep subcotical white matter. Ultrastructual studies revealed an abnormal deposition of granular osmiophilic materials (GOM) on the surface of vascular smooth muscle cells in dermis. Her mother developed recurrent strokes without risk factor since age 41. A heterozygosis Arg133Cys mutation of Notch 3 gene has already presented in patient and her mother. This case might be an early stage in CADASIL before stroke onset and suggested that systemic vasculopathy was presented in this stage. The correlation between MR and phenotype of CADASIL were unclear.
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PMID:[A case of CADASIL in early stage]. 1177 Nov 60

Two half-siblings are described with what we believe to be the second and third cases identified of the microdeletion, del(1)(p32.1p32.3). Both siblings had a tethered cord and had mental retardation, but otherwise their phenotypic presentations were quite different. The sister had failure to thrive, congenital dysplasia of the hip, absent corpus callosum, Chiari I malformation, and syringomyelia. The brother experienced neonatal seizures secondary to a hemorrhagic stroke. He had an accessory thumb, inguinal hernia, cryptorchidism, urinary reflux, and cholelithiasis. Although these children have only delayed development in common with the previously reported case, they help to further define chromosomal deletions in this area of chromosome 1. As yet, no clear phenotypic picture has emerged.
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PMID:Interstitial microdeletion of chromosome 1p in two siblings. 1221 Mar 25


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