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Query: UMLS:C0025362 (mental retardation)
 15,878 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The rare autosomal recessive Nijmegen breakage syndrome is characterised by severe immunodeficiency, microcephaly associated with mental retardation, and typical chromosomal rearrangements in peripheral T lymphocytes. This syndrome, though similar to ataxia telangiectasia, does not exhibit the neurological and cutaneous signs of this disorder. We report here the first patient with Nijmegen breakage syndrome ascertained in France. Chromosome analysis detected, in addition to the specific aberrations, two clonal T cell proliferations which do not involve the usual bands 14q11.2 and 14q32.1.
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PMID:Unusual T cell clones in a patient with Nijmegen breakage syndrome. 161 64

A 8 year old boy with short stature, low height velocity, mental retardation, cutaneous abnormalities, common variable immunodeficiency and increased chromosomal instability is described. In this patient growth hormone deficiency could be demonstrated by several stimulation tests. Growth hormone treatment increased growth rate from 4 cm/year before therapy to 7.8 cm in the first and 7.1 cm in the second year of treatment. Under therapy no effect on the immunological reactivity could be observed.
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PMID:[Growth hormone therapy in STH deficiency with immunologic deficiency and chromosome fragility]. 161 48

DiGeorge syndrome in humans is characterized by immunodeficiency, heart defects, mental retardation and facial dysmorphism; cytogenetic analysis has shown that deletions at 22q11 occur in approximately 25% of cases. To generate DNA markers from this region, we have microdissected and microcloned band q11 of human Chromosome (Chr) 22. Nineteen thousand clones were obtained from material dissected from 20 chromosome fragments. Seventeen of 61 clones analyzed (28%) were repetitive, 27 (44%) gave no signal, and 17 (28%) detected single copy sequences of which ten mapped to Chr 22. Two of these were found to be deleted in patients with DiGeorge syndrome and either monosomy for 22q11-pter or visible interstitial deletions of 22q11. These two markers are also hemizygous in patients with no visible chromosomal abnormality, demonstrating that submicroscopic deletions are common in DiGeorge syndrome patients.
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PMID:Interstitial deletions in DiGeorge syndrome detected with microclones from 22q11. 161 13

The neurological findings in 41 HIV-seropositive children are described. 23 children were symptomatic, eight seropositive but without symptoms and 10 seropositive children less than 15 months of age had no other evidence of immunodeficiency. Acquired microcephaly, developmental regression and progressive motor deterioration indicated HIV encephalopathy, as did developmental delay, mental retardation, cerebellar symptoms and behavioural changes. Three children with progressive encephalopathy improved after treatment with azidothymidine (AZT). In eight children treated with prophylactic intravenous immunoglobulin therapy (IVIG) and seven treated with both IVIG and AZT, no mental deterioration has been observed since the beginning of therapy. One child with advanced encephalopathy and severe pyramidal tract involvement did not improve.
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PMID:Central nervous system involvement of children with HIV infection. 186 79

Various studies have reported rates of human immunodeficiency virus (HIV) transmission from mother to child of 13-40%. Vertical transmission occurs in utero, during delivery, or, in a small number of cases, through breast milk. Whether mothers at various stages of HIV infection experience different rates of transmission remains unknown. Maternal antibodies cross the placenta and are present from birth up to 18 months of age. The offspring of HIV-positive mothers tend to be low birthweight, under 37 weeks' gestation, and at high risk of perinatal mortality. It is likely, however, that this profile is indicative of the low socioeconomic status of most women with HIV rather than a result of infection. Also emerging is a psychosocial profile of the HIV child. These children are isolated, neglected, battered, frequently abandoned, and exhibit various degrees of mental retardation. Also common are delayed psychomotor development, loss of developmental milestones, limited attention span, poor language development, and abnormal reflexes. These features result from the interaction of low socioeconomic status, a lack of psychosocial stimulation, nutritional deficiencies, and central nervous system infections. Since HIV-infected children tend to be the offspring of drug addicts, bisexuals, and prostitutes, they are not awarded the same compassion as children afflicted with other terminal illnesses. Moreover, these children are generally neglected by groups formed to provide support to AIDS patients. Thus, it is up to the general public, the mass media, and the health care system to advocate for the needs of these neglected children.
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PMID:HIV infection in children. 193 94

Instability of the centromeric region of chromosome 1, and multibranched configurations formed by the short and long arms were seen in a brother and sister with facial dysmorphism, mental retardation and recurrent infections. No chromosomal abnormalities were seen in the parents, who were first cousins. The fragility of chromosome 1 was identified in amniotic fluid cells of the sister. A combined immunodeficiency characterized by a lack of immunoglobulin production, low numbers of T cells and a lack of cells with NK cell markers was diagnosed. This is the first report of familial occurrence of this unique chromosomal aberration. The cause may be an autosomal recessive gene defect.
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PMID:Fragility of the centromeric region of chromosome 1 associated with combined immunodeficiency in siblings. A recessively inherited entity? 238 52

This report describes twin girls with typical features of ataxia-telangiectasia, including increased alpha-fetoprotein, radio-resistant DNA synthesis, characteristic chromosome abnormality, and immunodeficiency. They have, in addition, microcephaly and mental retardation. Complementation studies were performed utilizing Sendai virus--mediated fusion of fibroblast cell lines. Complementation was observed with patients in ataxia-telangiectasia complementation groups A, C, and E but not with the cell line from a patient with the Nijmegen breakage syndrome, in which patients have microcephaly, radio-resistant DNA synthesis, chromosome aberrations, and immunodeficiency but lack ataxia and telangiectasia. These data suggest that the Nijmegen breakage syndrome and the patients described here are not genetically distinct entities but form a spectrum of one disorder.
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PMID:ATFresno: a phenotype linking ataxia-telangiectasia with the Nijmegen breakage syndrome. 249 Nov 81

Trisomy 21 (Down's syndrome, DS) is the most frequent chromosomal aberration. Triplication of a small region of chromosome 21, the fragment 21q22 is sufficient to cause the DS phenotype including immunodeficiency, premature aging, neurodegenerations, mental retardation and an increased risk of leukemia. Chromosomal aberrations caused by X-ray irradiation were observed in DS lymphocytes and DS fibroblasts, but the correlation to cell death or repair deficiency was not clear. We approached this problem and report here on a profound X-ray repair deficiency of DS cells. With a colorimetric viability assay we observed an UV sensitivity of DS fibroblasts at doses beyond 14 Jm-2 but no significant X-ray sensitivity. By the nucleoid sedimentation technique, a deficient restoration of nucleoids in DS cells after X-ray irradiation was demonstrated. The same features apply for cells, which contain an overexpressed Cu/Zn-superoxide dismutase (SOD-1) gene. Radiation sensitivity of DS cells and SOD-1 overexpressing cells resemble those of ataxia telangiectasia (AT) fibroblasts. Additionally, DS and AT cells exert lack of inhibition of DNA synthesis after X-ray irradiation.
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PMID:Radiation sensitivity of Down's syndrome fibroblasts might be due to overexpressed Cu/Zn-superoxide dismutase (EC 1.15.1.1). 252 18

We present the first reported cases of individuals with mental retardation who have subsequently become infected with human immunodeficiency virus (HIV). The implications of this finding for agencies which provide services to persons with mental retardation are described. Where conflicts arise, the authors propose that ethical review committees provide consultation to service agencies who must ultimately determine how they will provide for the needs of their clients.
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PMID:The provision of services to persons with mental retardation and subsequent infection with human immunodeficiency virus (HIV). 292 10

Two patients had trichothiodystrophy but did not exhibit the commonly associated findings such as mental retardation, increased sensitivity to sunlight, ichthyosis, decreased fertility in males, and short stature. One of the patients had a transient combined immunodeficiency syndrome in early childhood lasting four years, but has remained in good health untreated for four years. The association of these two rare findings in this patient should alert us to the possibility that others with trichothiodystrophy may exhibit immunodeficiency.
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PMID:Trichothiodystrophy without retardation: one patient exhibiting transient combined immunodeficiency syndrome. 323 84


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