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Konsta Duesing Guillaume Charpentier Michel Marre Jean Tichet Serge Hercberg Beverley Balkau Philippe Froguel Fernando Gibson 《BMC medical genetics》2009,10(1):13
Background
APOA2 is a positional and biological candidate gene for type 2 diabetes at the chromosome 1q21-q24 susceptibility locus. The aim of this study was to examine if HapMap phase II tag SNPs in APOA2 are associated with type 2 diabetes and quantitative traits in French Caucasian subjects. 相似文献84.
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Catherine Bonaïti-Pelli Agns Chompret Marie-France Tournade Joelle Hochez Cline Moutou Jean-Michel Zucker Dominique Steschenko Maud Brunat-Mentigny Henri Roch Philippe Tron Didier Frappaz Martine Munzer Colette Bachelot Francois Dusol Danielle Sommelet-Olive Jean Lemerle 《Pediatric blood & cancer》1992,20(4):284-291
A complete family history was obtained for 501 patients with Wilms' tumor, treated in departments of pediatric oncology in whole France. The information was collected by self-questionnaire and/or by interview of parents. The proportion of bilateral cases is 4.6% and there are 12 patients (2.4%) with a positive family history of Wilms' tumor. The affected relatives are most often distant and no first degree relative was affected. Apart from the well-known associations with aniridia, hemihypertrophy, genitourinary anomalies, Beckwith-Wiedeemann, and Drash syndromes, there is also a significant excess of congenital heart defects (P = .008) which remains to be explained. Several findings support the bimutational hypothesis such as earlier diagnosis and increased parental age in bilateral cases. No particular anomalies and no increased frequency of childhood cancer were found in patients' relatives. The frequency of Wilms' tumor in relatives was estimated to be less than 0.4% in sibs, 0.06% in unclesand aunts, and 0.04% in first cousins. These figures are very different from those found in retinoblastoma and suggest that the mechanism may be more complex in Wilms' tumor. This conclusion is in agreement with molecular biology studies in tumors and linkage analysis in multiple case families which suggest that more than one locus is involved. © 1992 Wiley-Liss, Inc. 相似文献
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Beh?et's disease (BD) is a chronic relapsing multisystem disorder. While most frequently occurring around the Mediterranean and in Japan, isolated cases of BD have been reported in Africa south of the Sahara and in the Caribbean. The aim of this study was to describe our experience of BD in Guadeloupe (French West Indies) where the presence of the disease has not been reported previously. We analysed retrospectively the charts, and clinical and imaging features of patients native to Guadeloupe who were diagnosed with neurological manifestations of BD between 1989 and 1999. In our series of 13 cases, seven had neurological involvement. Neurological manifestations included meningoencephalitis or meningoencephalomyelitis in four cases, cerebral venous thrombosis in one case and peripheral neuropathy in two cases associated with myositis in one. Patients received treatment with colchicine (n=7), corticosteroids (n=6), immunosuppressive therapy (azathioprine and/or cyclophosphamide; n=4), acetylsalicylic acid (n=2) and oral anticoagulation for venous thrombosis (n=1). Long-term sequelae occurred only in patients with recurrent neurological disease. This study suggests that the frequency of BD in this Afro-Caribbean population is higher than this reported in Caucasian populations. Meningoencephalitis is associated with a poor prognosis while other patients achieved recovery. 相似文献
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Benoît Varenne Poul Erik Petersen Florence Fournet Philippe Msellati Jean Gary Seydou Ouattara Maud Harang Gérard Salem 《BMC health services research》2006,6(1):164-11
Background
In sub-Saharan Africa, the availability and accessibility of oral health services are seriously constrained and the provision of essential oral care is limited. Reports from the region show a very low utilization of oral health care services, and visits to dental-care facilities are mostly undertaken for symptomatic reasons. The objectives of the present study were to describe the prevalence of oral symptoms among adults in Ouagadougou, capital city of Burkina Faso and the use of oral health services and self-medication in response to these symptoms and to measure the associations between predisposing, enabling and needs factors and decisions to seek oral health care. 相似文献90.
The use of low molecular weight heparin in pediatric patients: a prospective cohort study 总被引:8,自引:0,他引:8
Dix D Andrew M Marzinotto V Charpentier K Bridge S Monagle P deVeber G Leaker M Chan AK Massicotte MP 《The Journal of pediatrics》2000,136(4):439-445
OBJECTIVE: Low molecular weight heparins (LMWHs) offer several advantages over standard anticoagulant therapy (unfractionated heparin/warfarin) including predictable pharmacokinetics, minimal monitoring, and subcutaneous administration. Our objective was to determine the safety and efficacy of LMWHs in children. METHODS: A prospective cohort of children treated with the LMWH enoxaparin (Rhone Poulenc Rorer) was monitored at the Hospital for Sick Children, Toronto, Canada, from March 1994 until July 1997. RESULTS: There were 146 courses of LMWH administered for treatment and 31 courses for prophylaxis of thromboembolic events (TEs). Clinical resolution of TEs occurred in 94% of children receiving therapeutic doses of LMWH, and 96% of children receiving prophylactic doses of LMWH had no symptoms of recurrent or new TEs. Major bleeding occurred in 5% of children receiving therapeutic doses. Recurrent or new TEs occurred in 1% and 3% of children receiving therapeutic and prophylactic doses of LMWH, respectively. CONCLUSION: LMWH appears to be efficacious and safe for both management and prophylaxis of TEs. The results of this cohort study justify a randomized controlled trial comparing LMWH with standard therapy for the management of TEs in children. 相似文献