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)

The results of the therapy of pulmonary tuberculosis in 90 mentally retarded patients in various forms and degrees of retardation are presented. General and clinical condition of 62 patients was very bad prior to the onset of antituberculotic therapy and most of them were immobile due to the mental retardation and dissemination of pulmonary tuberculosis. In 30 patients advanced form of tuberculosis, in 54 patients mild form and in 6 patients a minimal degree of tuberculosis were found. In hospitalized patients all clinical forms of pulmonary tuberculosis were found. The therapy started with triplicate antituberculotic therapy and the patients were also administered other drugs due to their mental retardation. During the first two months of antituberculotic therapy a high mortality rate was registered (27 or 30%) especially in younger patients. The reason for such high rate cannot be attributed only to pulmonary tuberculosis but also to the primary disease as was the main reason of patients' hospitalization at the institute for mentally retarded persons. Many complications in antituberculotic use could not be registered since many of the basic data could not be obtained from mentally retarded subjects. The complete recovery or improvement of pulmonary tuberculosis was achieved in 63 patients.
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PMID:[Personal experience in the treatment of pulmonary tuberculosis in mentally retarded persons]. 210 57

Case S.S. 59 years of age, male. At the age of 25, he had admitted to sanatorium for 7 years because of pulmonary tuberculosis. After his discharge, at the age of 45, he had started complaining of depressive mood or the idea of suicide and admitted to a mental hospital. Psychiatric diagnosis was depression and slight mental retardation. Shortly after, his depressive mood was improved, but his hypochondriac attitude was unchanged. No tendency toward dementia was proven. At the age of 54, he became enable to walk. Neurologically, pyramidal and some sort of extrapyramidal signs, dysarthria, disturbance of swallowing, fecal and urinary incontinence became apparent. Laboratory data showed scarcely any abnormality. At the age of 59, he died of bronchopneumonia. Neuropathologically, moderate degeneration of dentate nucleus, slight degeneration of pyramidal tract from medulla oblongata to spinal cord, striatum, substantia nigra were found. Neither senile plaques nor neurofibrillary changes could be seen throughout central nervous system. The most important finding is the presence of peculiar acidophilic bodies. They are round or oval, 10 approximately 20 mu in diameter and distributed in dentate nucleus, oculomotor nucleus, central grey of midbrain, superior colliculus, putamen, pallidum, subthalamic nucleus, Zona incerta, hypothalamus, Locus coeruleus, reticular formation of midbrain and pons, pontine nucleus, raphe nucleus, vestibular nucleus, inferior olive in order of number of the bodies. These bodies are scattered in so-called ground substance, and have no relations to any cell bodies or cell processes.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[An autopsy case with peculiar acidophilic bodies in the dentate nucleus and brain stem, associated with degeneration of the pyramidal-extrapyramidal systems]. 241 58

We report on a sibship with one brother and two MZ twin sisters affected with osteoporosis-pseudoglioma syndrome. An analysis of the present and literature data showed that vitreoretinal dysplasia or phthisis bulbi and X-ray evidence of osteoporosis must be considered minimal diagnostic criteria. Mental retardation, ligamentous laxity, and other reported anomalies are highly variable manifestations in the syndrome. Segregation analysis confirmed autosomal recessive transmission. The geographic origin of reported families suggests a higher gene frequency in Mediterranean countries.
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PMID:Osteoporosis-pseudoglioma syndrome: report of three affected sibs and an overview. 393 75

The hereditary cases of microphthalmia in the mentally retarded are not all of the partially sex-linked type as has hitherto been stated. A survey is given of published cases of dominant, autosomal recessive and sex-linked recessive pedigrees with the coincidence of microphthalmia and mental retardation. The common misconception of Norrie's disease being regraded as microphthalmia or hereditary corneal dystrophy instead of phthisis is noted. Present knowledge of chromosomal aberrations associated with microphthalmia is surveyed, and some of the syndromes and phenocopies in the mentally retarded in which microphthalmia may be found are reviewed. The survey, however, does not pretend to be a complete inventory of causes of microphthalmia in the mentally retarded.
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PMID:The heterogeneity of microphthalmia in the mentally retarded. 495 Sep 16

Untreated phenylketonuria (PKU) is characterized by excretion of phenylpyruvic acid in the urine and mental retardation. Reported eye abnormalities include photophobia (probably due to the albinoid iris), cataracts, and corneal opacities. Eleven patients in an institutionalized population of approximately 1,000 mentally retarded patients had PKU. Cataracts were found in six patients. One patient had bilateral phthisis bulbi and one patient had monocular phthisis. No corneal opacities were found otherwise. All patients with cataracts were middle-aged or had a history of severe self-induced trauma or treatment with high dosages of thioridazine hydrochloride. Albinism is associated with anomalous chiasmal routing of optic fibers and abnormal, extraocular motility. The ocular hypopigmentation of patients with PKU did not have the same results; all seeing patients were orthophoric. Although eye abnormalities are common in PKU except for hypopigmentation, none can be considered a direct effect of the inborn error of metabolism.
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PMID:Eye findings in patients with phenylketonuria. 688 53

A patient with X-chromosome-linked recessive Norrie's disease, characterized by retinal falciform fold, retinal detachment, repeated vitreous hemorrhage, and retrolental membrane formation, was observed from age 6 weeks. The patient showed the clinical progression from these early retinal and vitreous changes to the more typical retrolental vascularized detached retina. Pathologic examination showed normal retinal tissue. Two other male relatives showed the end stages of Norrie's disease with bilateral congenital blindness, with and without mental retardation and deafness. Vitreoretinal surgery prevented phthisis bulbi from occurring the operated eye but was unsuccessful in reattaching the contracted retina.
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PMID:Falciform fold, retinal detachment, and Norrie's disease. 739 60

Norrie disease (ND) is a severe form of congenital blindness accompanied by mental retardation and/or deafness in at least one third of the patients. This article summarizes advances in the molecular genetic analysis of this disease during the last 13 years, including mapping and cloning of the human gene and the generation and characterization of a mouse model. Genetic linkage studies and physical mapping strategies have assigned the ND locus to the proximal short arm of the human X chromosome. The identification of chromosomal rearrangements in several patients, such as microdeletions, enabled the isolation of the ND gene by a positional cloning approach. Numerous point mutations in this gene have been identified in three distinct clinical entities: (1) ND, (2) familial and sporadic exudative vitreoretinopathy, and (3) retinopathy of prematurity. The gene encodes a relatively small protein, consisting of 133 amino acids. The function of the gene product is yet unknown, although homologies with known proteins and molecular modelling data suggest a role in the regulation of cell interaction or differentiation processes. A mouse model has been generated to shed more light on early pathogenic events involved in ND and allelic disorders. The mouse homologous protein is highly identical (94%) to the human polypeptide. The gene is expressed in the neuronal layers of the mouse retina, the cerebellum and olfactory epithelium. Mutant mice show snowflake-like opacities within the vitreous, dysgenesis of the ganglion cell layer and occasionally degeneration of photoreceptor cells. The mouse phenotype does not include phthisis bulbi and, overall, resembles a mild form of ND. Electrophysiological studies revealed a severely altered electroretinogram b-wave. These results suggest a primary defect in the inner neuronal layers of the retina. Defects in the vitreous and photoreceptor cell layer are most likely secondary effects. Further histological, functional and molecular studies of the mouse model are needed to provide additional information on disease associated pathways.
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PMID:Molecular dissection of Norrie disease. 983 55

We performed a retrospective analysis of 394 patients who were treated for active tuberculosis (TB) at our hospital from 1976 to 1997. The diagnosis criteria for establishing TB were history of direct contact with TB patients, tuberculin skin test reactivity, positive bacteriology and radiographic findings compatible with TB. There were 192 males and 202 females (age range 1 month to 18 years of age, mean 6.3 years of age). Fifty-four percent of the cases were under 5 years of age. Primary pulmonary TB was presented in 200, post primary pulmonary TB in 97, pleural effusion in 53, endbronchial TB in 4, TB meningitis (TBM) in 28, miliary TB in 28 and other extra-pulmonary TB in 31. A history of contact with the patients was obtained in 72.8% of cases. Two hundred and thirty (58.4%) had received BCG, 134 (34%) no BCG, 30 (7.6%) were unclear. Especially, under 5 years of age, only 29 (13.6%) had received BCG. TBM is not disappeared in Japan and there were 28 cases with TBM. Fifteen patients out of them recovered completely, 8 patients recovered with severe neurological sequelae which included mental retardation, motor weakness, seizures and hydrocephalus and 5 patients died. Twenty-six had no BCG. Particularly in 1990s, we had experienced 4 dead TBM cases, 1 multi-drug resistant (MDR) TBM case and 1 TBM case due to nosocomial infection. Children with TBM should received 12-month regimen using initial daily treatment with isoniazid, rifampin, pyrazinamide, and streptmycin, followed by isoniazid and rifampin administered daily. Pulmonary TB in children is successfully treated with 6-month standard chemotherapy using isoniazid, rifampin, and pyrazinamide daily for 2 months, followed by isoniazid and rifampin daily for 4 months. In order to promote TB control and eliminate childhood TB, especially in infants, the following is necessary; 1) early detection and treatment of adult TB patients, source of infection, 2) prompt and appropriate contact examination and chemoprophylaxis, 3) BCG vaccination during early infancy, 4) protection from MDR TB are most important in Japan.
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PMID:[The current situation and treatment of childhood tuberculosis]. 1035 23