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

Case report of a 18 year old boy with short stature, microceophaly, mental retardation and multiple dysmorphic signs. At the age of 9 years a severe generalised osteoporosis was discovered. A pathological fracture of the greenwoor type healed without proper callus formation. The osteoporosis persists without signs of either deterioration or improvement. The serum phosphorus is slightly decreased, while serum calcium, alkaline phosphatase and renal functions are normal. The main biochemical finding is a constant hyperclaciuria of 6-13 mg/kg/24 h, which can be corrected by treatment with oral sodium phosphate. No other chronic disease could be found which would explain the bone disease. The complex disease of this boy does not fit into the known pictures of osteogenesis imperfecta, idiopathic juvenile osteoporosis or of idiopathic hypercalciuria, and might therefore be another type of demineralising bone disease. It is suggested, that the cause might be an impairment of the calcium fixation of collagen fibres during desmal ossification.
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PMID:[Uncommon form of idiopathic osteoporosis with hypercalciuria, growth retardation and mental retardation]. 115 69

In present-day African psychiatry, there is a sharp differentiation between serious mental illness, which requires medically orientated treatment and chemotherapy, and the more superficial disturbances of personality for which psychological, sociological and educational measures are indicated. With the severe shortage of Western psychiatrists who are prepared to undertake this work, it is providential that black traditional healers address themselves to the latter group of mental abnormalities with a measure of success comparable to psychotherapy in First-World practice. In the back wards of a mental hospital (run on First-World lines) and in outpatient clinics in periurban Durban townships, one meets a large number of patients with severe and chronic disease. All those conditions (mental retardation, organic brain syndromes, schizophrenia and affective disorders) with positive symptomatology (excitement, restlessness and aggression) are found to respond to neuroleptic drugs. Possible reasons why patients with negative symptoms (emotional withdrawal, poverty of ideas and speech), especially in schizophrenia, do not react, are discussed, and administrative and socio-economic implications are reviewed.
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PMID:Severe invalidism--the dominant feature of Third-World psychiatry in southern Africa. 335 19

The one-year birth cohort of 12 058 children, 96% of all children born in the two northernmost provinces of Finland, Oulu and Lapland, in 1966 was studied prospectively up to the age of 14 years. During this period 14 children, 1.2 per thousand, were lost from the follow-up. Data on development, mortality, and morbidity were collected prospectively by means of questionnaires and from various registers, the most important of which was the National Hospital Discharge Register. A total of 299 cases of trauma to the nervous system (skull fracture, cerebral contusion, concussion, fracture of the vertebral column with spinal lesion, injury to the cranial or peripheral nerves) occurred in 286 children, 116 girls and 170 boys, which yields a cumulative incidence of nervous system trauma of 24.1 per thousand. The trauma was fatal in 11 boys and 7 girls, 63 per thousand of all children with neurotrauma, and 136 per thousand of all cases of death occurring in the age group 29 days to 14 years. Spinal injury occurred in 12 children, cerebral contusion in 28, skull fracture in 19, and concussion in 216. Such trauma resulted in chronic disease, cerebral palsy, mental retardation, and epilepsy in 16 children, 5.6% of all children with neurotrauma and 3.2% of the 495 children in the cohort with cerebral palsy, epilepsy or mental retardation only.
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PMID:Trauma to the nervous system and its sequelae in a one-year birth cohort followed up to the age of 14 years. 408 68

Diagnostic and prognostic uncertainty is one of the major psychological stressors for patients in acute and chronic illness, as well as for parents of children with disabilities or chronic disease. Whereas the parents' feeling of uncertainty is undoubtedly very strong shortly after the birth of a child with disabilities, the long-term effects on the parents of having or not having a precise genetic diagnosis, in terms of emotional stress, remain unclear. In this study, mothers of non-disabled children are compared to mothers of children with Down syndrome, and to mothers of children with a diagnostically unassigned mental retardation with regard to the level of anxiety, feelings of guilt, and emotional burden. While the mothers of children with Down syndrome score comparably to the mothers of non-disabled children, the results show broad psychoemotional disadvantages for mothers of children with a mental retardation of unknown etiology. Consequently, the value of genetic diagnosis of infantile disabilities encompasses, beyond clinical considerations like therapy planning and assignment of the recurrence risk for siblings, significant and long-lasting emotional relief for the parents.
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PMID:Psychological benefit of diagnostic certainty for mothers of children with disabilities: lessons from Down syndrome. 1566 6

Turner syndrome (TS) is a chronic disease related to haploinsufficiency of genes that are normally expressed in both X chromosomes in patients with female phenotype that is associated with a wide range of somatic malformations. We made detailed cytogenetic and clinical analysis of 65 patients with TS from the region of Recife, Brazil, to determine the effects of different chromosome constitutions on expression of the TS phenotype. Overall, patients with X-monosomy exhibited a tendency to have more severe phenotypes with higher morbidity, showing its importance in TS prognosis. Additionally, we found rare genetic and phenotypic abnormalities associated with this syndrome. To the best of our knowledge, this is the first case of 45,X,t(11;12)(q22;q22) described as a TS karyotype. Turner patients usually have normal intelligence; however, moderate to severe levels of mental retardation were found in 5 TS cases, which is considerate a very uncommon feature in this syndrome.
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PMID:Effect of chromosome constitution variations on the expression of Turner phenotype. 2354 84