49,XXXXY syndrome: behavioural and developmental profiles.
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Biomedical subjects
Publications and source records attributed to J Jancar.
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In 1987, a survey of eye abnormalities was undertaken of the mentally handicapped patients in Stoke Park Hospital, Bristol. The total population was 367 patients (262 females and 105 males). Of the 367 patients reviewed, 218 were found to have one or more eye anomalies (including the Down's Syndrome group), which shows that more than half the patients suffered from eye disorders (59%). The prevalence of the following anomalies is presented in detail: strabismus, refractive errors and cataracts. Corneal anomalies, nystagmus, retinopathy, glaucoma and other eye pathologies associated with various syndromes are noted. Eye anomalies in 31 patients suffering from Down's syndrome in the sample are recorded. Preventative measures to ameliorate the defects of eyesight, particularly in the aging population, relevance of regular eye examination and medical or surgical treatment of eye disorders are discussed.
This is probably the first retrospective study of an adult mentally handicapped population of incestuous parentage. Eleven known incestuous unions were identified with 38 offspring, of whom 15 were admitted to the Stoke Park group of hospitals. Incest and its legal definition in different societies are considered. The effects of close inbreeding on mortality, morbidity, mental function and adoption are examined. The study also reaffirms that incest is one of the causes of mental handicap in a high percentage of offspring.
In four hospitals for the mentally handicapped, 302 patients died during the decade 1976-85; of these, 53 (17.5%) died from cancer. The percentage of deaths from all types of cancer during that period showed an increase, particularly in gastrointestinal cancer, as compared with the previous four decades.
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A case of a mentally handicapped female with unbalanced form of translocation deletion between chromosomes 6 and 22 is reported. Clinical features, mental disorder and abnormal dermatoglyphs of the propositus are described.
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Eight cases of primary non-Hodgkin's lymphoma of the breast found in the pathology files of the Institute of Oncology, Ljubljana, Yugoslavia, for a period of 25 years (from 1961 to 1985) were analyzed. During the same period 5711 cases of breast carcinoma were seen. Seven cases were diffuse lymphomas, and one case was nodular. Five cases were high-grade large cell lymphomas and three cases were of low-grade type. One case of the latter group was associated with elevated IgA in the serum and showed monoclonal reaction of plasmacytic lymphoma cells for kappa light chain and IgA. In this case amyloid deposits were seen in the breast tumor. In six cases, focal infiltration of ductal/lobular epithelium by lymphoma cells was found. This so-called lymphoepithelial lesion appears to be an important characteristic of various mucosa-associated lymphoid tissue lymphomas which have been described in different extranodal sites (e.g. gastrointestinal tract, and respiratory tract). They may show different behavior from nodal counterparts, especially in terms of their spread to other mucosal sites which may appear before or without nodal dissemination. The breast appears to be yet another location for these lymphomas.
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A case of Marden-Walker syndrome with its typical facies, blepharophimosis, congenital joint contractures, mental handicap and other anomalies is reported in a 29-year-old female and the literature reviewed. There is a history of mental handicap on the paternal side and cancer on the maternal side of the family tree.