Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0025362 (mental retardation)
 15,878 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

With the topographic EEG mapping method, the correlation between the morphologic abnormality of the brain and its functional changes was investigated in 13 patients with porencephaly and arachnoid cyst verified by CT scan. The spatial distribution of the EEG activity was displayed in the delta, theta, alpha-1, alpha-2, beta-1, and beta-2 frequency bands. The abnormality of EEG topographic images (e.g., an increase of the power of delta activity and/or a decrease of the power of alpha activity in the involved side of the brain) was more marked in cases with porencephaly than those with arachnoid cyst, and in cases with mental retardation or paralysis than among those without.
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PMID:EEG topography in porencephaly and arachnoid cyst. 402 51

Microcephaly (small head) is clinically important only if there is concomitant micrencephaly (small brain). Extensive studies on patients in mental institutions have shown that there is close correlation among microcephaly, micrencephaly, and mental retardation when the head is more than three standard deviations below the norm. If the small head is less than two standard deviations below the norm, no strong correlation exists with eigher small brain or mental retardation. High-resolution ultrasound permits imaging of the fetal head in utero, allowing accurate evaluation of head size and detection of intracranial anomalies. The microcephalics detected in utero over a 2-year period form the basis of this series, showing close correlation with the known clinical data on children with microcephaly. An approach to ultrasound detection and evaluation of fetal microcephaly is proposed.
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PMID:Ultrasound criteria for in utero diagnosis of microcephaly. 676 70

We observed a family in which two boys were diagnosed with Alport syndrome, elliptocytosis, and mental retardation and carried a large deletion of the Xq22.3-q23 region, encompassing the COL4A5 gene. This suggests the possibility of a new contiguous gene syndrome. In an attempt to characterize the genes contributing to this complex phenotype, we have isolated a gene encoding a new long-chain acyl-CoA synthetase (FACL4 or LACS4) from the region deleted in these patients. Among several ESTs identified by searching the human gene map database maintained at the National Center for Biotechnology Information, using the map position as a query, only one was deleted in the patients. RACE products containing the entire ORF were subsequently generated. Northern blot analysis showed a 5-kb mRNA expressed in several tissues except for liver and lung. Brain shows a longer transcript, possibly reflecting the use of a brain-specific upstream ATG start codon. FACL4 encodes a predicted protein product of 670 amino acids (711 in brain), with a remarkable level of conservation compared to the rat acyl-CoA synthetases ACS4 and brain-specific ACS3 protein sequences. We are investigating the possibility that the absence of this enzyme may play a role in the development of mental retardation or other signs associated with Alport syndrome in the family.
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PMID:FACL4, a new gene encoding long-chain acyl-CoA synthetase 4, is deleted in a family with Alport syndrome, elliptocytosis, and mental retardation. 948 Jul 48

The aim of this systematic review was to study motor and cognitive outcome in infants with severe early brain lesions and to evaluate effects of side of the lesion, sex, and social economic status on outcome. A literature search was performed using the databases Pubmed and Embase. Included studies involved infants with either cystic periventricular leukomalacia (cPVL), preterm, or term stroke (i.e. parenchymal lesion of the brain). Outcome was expressed as cerebral palsy (CP) and intellectual disability (mental retardation). Median prevalence rates of CP after cPVL, preterm, and term stroke were 86%, 71%, and 29% respectively; of intellectual disability 50%, 27%, and 33%. Most infants with cPVL developed bilateral CP, those with term stroke unilateral CP, whereas after preterm stroke bilateral and unilateral CP occurred equally often. Information on the effects of sex and social economic status on outcome after specific brain lesions was very limited. Our findings show that the risk for CP is high after cPVL, moderate after preterm stroke, and lowest after term stroke. The risk for intellectual disability after an early brain lesion is lower than that for CP. Predicting outcome at individual level remains difficult; new imaging techniques may improve predicting developmental trajectories.
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PMID:Motor and cognitive outcome after specific early lesions of the brain - a systematic review. 2702 7