What do volunteers have to do with health care planning, anyway? A British perspective.
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Biomedical subjects
Publications and source records attributed to M Jay.
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The eosinophilic meningitis due to Angiostrongylus cantonensis is well known on Madagascar and on Mauritius Island, but was never described on Reunion Island. Two cases have been lately oberved in Doctor Jay's department at Gabriel Martin's hospital. Local achatines were dissected and contained larvae which, when absorbed by rats, were found in there brains ten days later. These larvae belong certainly to Angiostrongylus genus, but the species has not yet been found with certitude. Lately infested rats are passing through the normal laps of time for adult maturation until they will be sacrified for further examinations.
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Two pedigrees of retinitis pigmentosa, originally published by Nettleship, are presented with extracts from his private correspondence. Affected descendants from the two families have been traced, in one family extending the pedigree to nine affected generations, and in the other providing an instance of male-to-male transmission in a pedigree previously considered as being possibly X-linked.
In 1905, Parsons first described a family with a history of four generations with uveal melanoma associated with breast cancer. The family history has now been brought up to date using genealogical sources to determine the origin of this family which was traced to the East End of London in the early 19th century. In addition, immunohistochemical investigations have showed mutant p53, a tumor suppressor gene, in museum specimens of uveal melanoma after 150 years. This family probably represents the earliest example of the Li-Fraumeni syndrome on record.
Retinitis pigmentosa (RP) is a group of retinal degeneration characterized by progressive visual field loss, night blindness and pigmentary retinopathy. Its prevalence is in the region of 1-2 in 5,000 of the general population, making it one of the commoner causes of blindness in early and middle life. Although 36-48% of RP patients are isolated cases, the remainder show autosomal dominant, autosomal recessive or X-linked modes of inheritance. The X-linked variety ( XLRP ) is found in 14-22% of RP families in the UK. In the present study, X chromosome-specific recombinant DNA probes which can detect restriction fragment length polymorphisms have been used to localize the XLRP gene(s) to a subregion of the X chromosome using linkage analysis. One of the probes, L1.28, has been shown to be closely linked to XLRP in five kindreds, with 95% confidence limits of 0-15 centimorgans (maximum LOD score of 7.89 at a distance of 3 centimorgans). This suggests that the XLRP locus lies on the proximal part of the short arm of the X chromosome. This probe is potentially useful for carrier detection and early diagnosis in about 40% of cases, provided that genetic heterogeneity can be excluded by analysis of further families.
Several studies have reported in schizophrenia a decrease of age of onset in successive family generations, and this observation is consistent with anticipation. Anticipation is known to result from expansion of CAG repeats in several neurodegenerative disorders. Longer alleles of the KCNN3 gene, which contains a highly polymorphic CAG repeat, and encodes a neuronal small conductance calcium-activated potassium channel, have recently been shown to be over-represented in sporadic cases of schizophrenia. In this report, we tested the hypothesis of an association between longer alleles of CAG repeat in the KCNN3 gene and schizophrenia in 20 families with clinical evidence for anticipation and in 151 unrelated schizophrenic cases. No significant difference in the distributions of allele frequencies was observed between familial cases of schizophrenia and controls, and between unrelated cases and controls. Furthermore, no intergenerational CAG repeat instability was detected in the 20 families. Our results do not support the involvement of the KCNN3 (hSKCa3) gene in the etiology of schizophrenia.
Fifteen Rosa cultivated races were described by means of phenotypic frequencies (11 tables). Two groups of correlated contingency tables were identified by ACT-STATIS (Analyse Conjointe de Tableaux-Structuration de Tableaux à Trois Indices de la Statistique) interstructure analysis. Three data sets appeared to be independent from the others. Typologies of races were obtained after ACT-STATIS compromise analyses for the two groups of correlated tables, and after Principal Component Analyses for the independent data sets. Each typology was original and variously influenced by genealogical structure, mutation or artificial selection pressures. A weighted synthesis was attempted in order to build a taxonomy of races taking into account these diversity factors. The good agreement between the resulting classification and the assumptions about the history of Rosa domestication advocated for a wider utilization of ACT-STATIS and RV coefficient when the relationships between individuals or populations have to be studied on the basis of their similarities.
Cardiac pacing leads coated with povidone-[131I] were implanted in dogs and the leaching of radioactivity from the leads was monitored by external scintigraphy. The activity which had dissipated from the pacing leads was not as [131I]-iodide, but as povidone-[131I]. Only 50% (mean) of the activity remained on the pacing leads after two weeks while a significant amount of radioactivity was eliminated via urine and feces. The liver was a major site of accumulation of retained activity which had leached off the pacing leads. There was no evidence of large pieces of povidone-[131I] in the lungs of the dogs, all of which appeared healthy at the time of sacrifice. The results of this study support the conclusions of a long-term study indicating that povidone is a safe and suitable coating material for pacing leads.
A total of 4,626 mammals were serologically tested for antibodies to Sin Nombre virus. All nonrodent species were antibody negative. Among wild rodents, antibody prevalence was 8.5% in murids, 1.4% in heteromyids, and < 0.1% in sciurids. Of 1,921 Peromyscus maniculatus (deer mice), 226 (11.8%) were antibody positive, including one collected in 1975. The highest antibody prevalence (71.4% of 35) was found among P. maniculatus on Santa Cruz Island, off the southern California coast. Prevalence of antibodies among deer mice trapped near sites of human cases (26.8% of 164) was significantly higher than that of mice from other sites (odds ratio = 4.5; 95% confidence interval = 1.7, 11.6). Antibody prevalence increased with rising elevation (> 1,200 meters) and correlated with a spatial cluster of hantavirus pulmonary syndrome cases in the Sierra Nevada.
As a preliminary step in the search for chromosomal location of a susceptibility gene predisposing to schizophrenia, cytogenetic screening of patients might be useful. Search for chromosomal aberrations has successfully directed and accelerated the identification of several disease genes, such as the Duchenne muscular dystrophy gene, retinoblastoma, Burkitt's lymphoma and chronic myeloïd leukemia. Although karyotypes abnormalities do not account for a large portion of cases of Schizophrenia, the two candidate regions predisposing to this disease resulted from observation of chromosomal abnormalities. First, the identification of a partial trisomy of the 5q11-q13 region (Basset et al., 1988) led Sherrington et al. (1988) to report a positive linkage with markers localized on the long arm of chromosome 5, which has not yet been replicated (Kauffman et al., 1989; Kennedy et al., 1988; St Clair et al., 1989). Second, on the basis of frequent cytogenetic abnormalities of the sex chromosome (DeLisi, 1985) in addition to epidemiological observations, Crow (1988) suggested that there could be a locus for psychosis within the pseudoautosomal region, a data which has been recently confirmed (Collinge et al., 1991). With the hypothesis that such aberrations could be more frequent among schizophrenics who have at least one affected first-degree relative, we undertook cytogenetic screening on a sample recruited from consecutive psychiatric admissions to a Psychiatric facility (Hôpital Saint Paul) involving patients living in a limited geographical area on the island of La Réunion, a French Department in the Indian Ocean.(ABSTRACT TRUNCATED AT 250 WORDS)
Produced by the larval form of Taenia solium, human cysticercosis is especially redoutable because of its great affinity for the nervous system and the eyes. In France, the isolated cases, apparently autochtons, are very seldom; cysticercosis is discovered, more frequently, among immigrated people. After an historical recall, the authors describe the lesions and, among clinical manifestations, the epileptogenic, ventricular and diffuse cerebral forms.
Beside the principal aspects of cysticercosis (see the first part of this article) there are others clinical forms : medullar, ocular, subcutaneous, often associated to cerebral cysticercosis, latent or not. The complemental investigations are numerous, their value is variable. The complemental investigations are numerous, their value is variable. It is often difficult to distinguish cysticercosis from cenurosis. Therapy remains deceitful. Very important and useful are the measures of prevention.
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