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)

Plasma urate levels and erythrocyte glucose-6-phosphate dehydrogenase activity were not significantly different in patients with Down's syndrome when compared with control subjects with mental retardation. No significant difference was found in 5-phosphoribosyl-1-pyrophosphate (PRPP) concentration and synthesis of PRPP in erythrocytes from glucose between subjects with Down's syndrome and controls. The purine metabolism of Down's syndrome is discussed.
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PMID:Synthesis and concentration of 5-phosphoribosyl-1-pyrophosphate in erythrocytes from patients with Down's syndrome. 14 14

A new case of idiopathic multicentric osteolysis presenting with cranial malformation and mental retardation is described. The patient could be followed for some years. Differential diagnosis is considered and a classification of osteolytic syndromes attempted.
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PMID:[Idiopathic multicentric osteolysis with craniodysplasis and mental retardation: a new syndrome? (author's transl)]. 14 30

Three patients with mental retardation and multiple congenital abnormalities are described. Although their clinical appearance was not suggestive of Down's syndrome, chromosome studies showed a non-disjunctional trisomy 21 in two of the patients. The third case had an unsuspected XXY karyotype.
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PMID:Two cases of trisomy 21 and one XXY case with atypical clinical features. 14 45

beta-glucuronidase deficiency in fibroblasts, leucocytes and in serum and increased urinary excretion of mucopolysaccharides were found in a girl, now 13 years old, who exhibits some features of a mucopolysaccharidosis such as moderate mental deficiency, craniofacial dysmorphism, a short neck, protruding sternum, vertebral deformities and corneal clouding. Coarse granulations were found in her leucocytes. The liver and spleen are not enlarged and there is no gingival hyperplasia. Additional features, hitherto undescribed, are hydronephrosis and defective ossification of the medial carpal and tarsal bones. Low enzyme activity in the parents and a normal brother suggests heterozygosity.
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PMID:Beta-glucuronidase deficiency in a girl with unusual clinical features. 14 57

Clarke and Clarke's (1977) critique of Head Start in an editorial on mental retardation is based upon questionable assumptions, a selective review of research, and errors in fact. There is considerable evidence that Head Start has improved the social competence of economically disadvantaged children.
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PMID:Head Start has little to do with mental retardation: a reply to Clarke and Clarke. 14 82

This report brings to light the results of cytogenetic study carried out on 350 mentally retarded persons (medium: Group I, deep Group II). In 8,2% and 12,56% of the cases a chromosomic abnormality is observed (mainly trisomy 21). These percentages are in correlation with the results of other studies. Ante and peri natal pathology plays a very important part among exogenous factors. In numerous cases a multifactors etiology can be found as the cause of this mental retardation, the effect of an initial organic mental retardation being aggravated by precocious affective perturbations. For those cases without apparent etiology, a teratologic origin may be thought as their cause.
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PMID:[Cytogenetic study of 350 mental deficient patients at medico-pedagogic institutions]. 14 99

A cytogenetic survey of 475 patients in an institution for the mentally retarded is reported. The chromosomes of all patients were studied using both a non-banding and a G-banding technique in order to estimate the relative efficiency of the two technique in detecting structural rearrangements of the chromosomes. A total of 57 patients was found to have a chromosome abnormality, including five with a balanced structural rearrangement. The contribution of chromosome aberrations to the etiology of mental retardation is discussed with special emphasis on the contribution of balanced structural rearrangements.
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PMID:A cytogenetic survey of an institution for the mentally retarded: I. Chromosome abnormalities. 14 75

This paper is an introduction to the cytogenetic biology of man. It deals with the role of chromosome abnormalities in prenatal death, malformation syndromes, mental retardation, malformation/mental retardation syndromes, abnormalities of sex determination, sex differentiation and sexual function, cancer, and certain genetic disorders in which chromosome abnormalities are seen commonly. Down syndrome is discussed as an important and common example of a malformation/mental retardation syndrome.
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PMID:Clinical cytogenetics: part 1. 14 67

After dealing with the biochemistry of tryptophan metabolism the most important results obtained in humans are presented. Special emphasis is given to the hereditary defects of tryptophan metabolism associated with mental retardation and convulsions due to lack of pyridoxine. The author's findings demonstrate the existence of a hereditary disturbance of the tryptophan metabolism via kynurenine in a certain part of oligophrenic patients. This metabolic defect can be controlled by high doses of vitamin B6. Furthermore investigations conducted with a view to interpreting these results are discussed, especially the determination of kynureninase activity, serotonin blood levels and pyridine nucleotide synthesis.
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PMID:[Tryptophan metabolism and oligophrenia (author's transl)]. 14 46

Two brothers (Nos. 1 and 3), with physical and mental retardation and many other clinical characteristics in common, were both trisomic for 12p(ter leads to 12.1) and monosomic for 21p. Their mother (No. 5), the maternal grandmother (No. 7), aunt (No. 8), and a first-cousin (No. 9) were balanced translocation carriers, 46 rep (12;21) (p12.1;p11). Another cousin (No. 10) had Down syndrome: he had two normal 21 chromosomes in addition to both translocation chromosomes. A sister (No. 2), who died at the age of 1 year without being karyotyped, had several phenotypical features in common with her brothers. Our two cases of trisomy 12p (ter leads to 12.1) were compared with eight cases of trisomy 12p described earlier, and the following common characteristics were found: severe mental and physical retardation; flat and round, broad face with prominent cheeks; flat and broad nasal bridge with short nose; anteverted nostrils and large philtrum; broad and prominent lower lip; low-set or slanting ears, poorly formed with folded helix, prominent antihelix and deep concha; short neck; short sternum; "spade"-shaped fingers, the fifth being short; bilateral genu valgum; bilateral pes planus and talus valgus; increased space between the first and second toes; generalized hypotonia; and certain dermatoglyphic characteristics. An elevated serum lactate dehydrogenase (LDH) was measured in four cases.
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PMID:Trisomy 12p syndrome. Evaluation of a family with a t(12;21) (p12.1;p11) translocation with unbalanced offspring. 14 83


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