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)

Choroideremia is an X chromosome-linked retinal dystrophy of unknown pathogenesis. We have isolated cDNAs from a human retinal library with a genomic probe located at the X chromosomal breakpoint in a female with choroideremia and an X;13 translocation. This cDNA spans the breakpoint in the X;13 translocation female and is deleted in males who have choroideremia as part of a complex phenotype including mental retardation and deafness. However, this cDNA detects no alterations in the DNA of 34 males with isolated choroideremia. Nonetheless, the cDNA does detect reduced or absent levels of mRNA in three-quarters of male patients with an apparently intact gene. These data support the hypothesis that this cDNA represents the gene in which mutations cause choroideremia.
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PMID:Isolation of a candidate gene for choroideremia. 154 74

Toxoplasmosis is usually asymptomatic in pregnant women but poses a risk of severe effects on the fetus. One to eight of every 1,000 pregnant women become infected, and the infection is transmitted to the fetus in approximately 40 percent of these cases. The risk of transmission rises with increasing gestational age at the time of initial infection. Congenital infection with toxoplasmosis may lead to serious sequelae, such as blindness, mental retardation, neurologic deficits and deafness. Prevention of morbidity from toxoplasmosis depends on prevention of the infection in pregnant women, plus early recognition and aggressive treatment of maternal infections.
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PMID:Toxoplasmosis in pregnancy: an emerging concern for family physicians. 155 44

Two sisters are described with a disorder characterised by mental retardation, congenital cataract, progressive spinocerebellar ataxia, sensorineural deafness, and signs of peripheral neuropathy. Progressive hearing loss, ataxia, and polyneuropathy became evident in the third decade. The differential diagnosis of this syndrome is discussed including the syndromes described by Berman et al and Koletzko et al.
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PMID:Two sisters with mental retardation, cataract, ataxia, progressive hearing loss, and polyneuropathy. 166 80

Cytogenetic analysis of a male infant referred for poor neurological development and failure to thrive showed a microdeletion of the X chromosome, his karyotype being 46,Y,del(X)(pter----q21.1:: q21.2----qter). His mother and grandmother were also found to carry the deletion. DNA probes were used to define the deletion molecularly and it was shown to span intervals 2 to 6 of Cremers et al, a portion of Xq that contains the TCD gene and genes whose absence is associated with deafness and mental retardation. RFLP analysis together with X inactivation studies using the probe M27 beta verified the carrier status of the female relatives and showed non-random X inactivation in the heterozygous females.
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PMID:Molecular and cytogenetic analysis of a familial microdeletion of Xq. 167 84

A 6-year-old girl with pachygyria was presented. Regions of pachygiria were seen in the frontal, temporal, and parietal areas in vivo by magnetic resonance imaging. She showed athetosis, mental retardation, deafness, short stature, and microcephalus, but did not show epilepsy. A combination of these symptoms may be a new clinical entity, caused by undetermined prenatal events.
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PMID:A case with athetosis, mental retardation, deafness, and pachygyria. 178 63

The occurrence of congenital deafness, mutism and goitre unassociated with cretinism or mental retardation in euthyroid patients is known as Pendred's Syndrome. It has been estimated that 4-10 % of children with congenital deafness suffer from this condition. The perceptive hearing loss is considered to be present at birth although it is frequently not recognized for several years. The cause of the hearing defect is a congenital bilateral malformation of the cochlea of the Mondini type. The goitre is not recognized clinically at birth or in early childhood. It becomes apparent in the pre-pubertal years when it presents as a colloid enlargement progressing to a nodular goitre. The thyroid defect has been shown to be a partial defect in iodine organification leading to the underproduction of thyroxine and subsequent thyroid hyperplasia. The syndrome is caused by a single mutant recessive gene responsible for both the deafness and goitre. Its autosomal mechanism gives an equal incidence in both sexes, unusual in thyroid disease. This article reviews the current aspects of pathogenesis and treatment of this syndrome and reports its occurrence in two Sudanese siblings.
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PMID:Goitre and deaf-mutism. 181 81

Five community-based services in Israel for disabled adolescents are described. Three of them are day centers and two are afternoon clubs. They provide rehabilitation resources for teenagers with various kinds of disabilities including cerebral palsy, mental retardation, blindness, deafness and emotional handicaps. These services are analyzed and discussed with regard to addressing the major needs of adolescents with disabilities, with the aim of achieving an optimal degree of independence and preparation for normalized life. The programs include resources such as vocational rehabilitation, independent living education, recreational activities, social skills training, sexuality education in addition to creating opportunities to mix and socialize with nondisabled youth. The function of pediatric and adolescent medicine physicians in such services is emphasized as imperative in providing a comprehensive rehabilitation program for youth with disabilities.
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PMID:Developing community-based services for youth with disabilities. 183 26

Medical-educational cooperation is of long standing in disability care. The roots of this tradition in the fields of blindness, deafness, physical disability, and mental retardation are touched on, and the further development of the overall medical-educational task in rehabilitation is outlined. Various aspects of team work and of remedial education systematics are set out in light of the changing positions among experts in the rehabilitation process. The importance of value orientation is emphasized.
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PMID:[Medicine and education]. 183 11

Despite the availability of potent antibiotics, bacterial meningitis is still a major clinical problem. Mortality is high, and up to a third of survivors are left with neurologic sequelae that may range from mild behavioral disorders to mental retardation or deafness. New therapeutic approaches to meningeal inflammation, however, are reducing the neurologic risks.
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PMID:Mediators of meningitis: therapeutic implications. 189 48

We report an 18-year-old female with facioscapulohumeral dystrophy (FSHD), who had sensorineural deafness, retinal vessel abnormality, mental retardation, and epilepsy. She had infantile spasms at 6 months of age. Muscle atrophy and weakness of facial muscles were first noticed at 3 years of age. From 10 years of age, she had rapidly progressive generalized muscle weakness especially of facial, neck and truncal muscles with marked lordosis. Although mental retardation is commonly complicated with FSHD, infantile spasms or epilepsy has never been reported. Not only mental retardation but epilepsy may be one of the central nervous system symptoms in a systemic disorder, FSHD.
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PMID:[A case of facioscapulohumeral muscular dystrophy with infantile spasms, sensorineural deafness and retinal vessel abnormality]. 190 58


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