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91.
Ibáñez P De Michele G Bonifati V Lohmann E Thobois S Pollak P Agid Y Heutink P Dürr A Brice A;French Parkinson's Disease Genetics Study Group 《Neurology》2003,61(10):1429-1431
The DJ-1 gene was identified as responsible for early onset autosomal recessive parkinsonism in two families (PARK7). In this study, after excluding mutations in the parkin gene, the authors screened a large series of early onset autosomal recessive parkinsonism families and consanguineous isolated patients of diverse geographic origins for DJ-1 mutations. No mutations were found. This indicates that PARK7 is not a common locus for early onset autosomal recessive parkinsonism, and that one or more new loci remains to be identified. 相似文献
92.
Wallner JS Fitzpatrick JE Brice SL 《Cutis; cutaneous medicine for the practitioner》2003,72(5):391-393
The typical presentation of porokeratosis of Mibelli is of a solitary plaque with a prominent raised border cleaved by a central furrow. The central portion of the plaque is usually slightly atrophic. The plaques vary in size from a few millimeters to several centimeters in diameter and tend to be acrally distributed, though they can occur on any part of the body. We report an unusual case of verrucous porokeratosis of Mibelli, localized to the natal cleft, that mimicked psoriasis. This entity, though unusual, is not unique. Two similar cases of verrucous porokeratosis of Mibelli limited to the natal cleft region and resembling psoriasis have been reported in the British literature. Verrucous porokeratosis of Mibelli localized to the natal cleft appears to be a distinct clinical entity that can mimic psoriasis. Better recognition of this form of porokeratosis of Mibelli may result in earlier diagnosis and initiation of appropriate therapy. 相似文献
93.
Brice G 《Pediatric dermatology》2003,20(1):89; author reply 89-89; author reply 90
94.
Borie C Gasparini F Verpillat P Bonnet AM Agid Y Hetet G Brice A Dürr A Grandchamp B;French Parkinson's disease genetic study group 《Journal of neurology》2002,249(7):801-804
We have conducted a case-control study in order to test for an association between 8 intragenic polymorphisms of 5 iron-related
genes (transferrin, transferrin receptor1, HFE, frataxin and lactoferrin) and Parkinson disease. Comparison of genotypes and
allele frequencies did not differ significantly between cases and controls for all studied polymorphisms except the G258S
transferrin polymorphism, for which a higher frequency of the G allele was found among cases (p=0.033), particularly among
cases with onset older than 60 (p=0.0017) and with negative family history (p=0.022). This finding suggests that genetic variations
in the control of iron metabolism may contribute to the pathogenesis of the disease.
Received: 23 July 2001, Received in revised form: 8 November 2001, Accepted: 14 November 2001 相似文献
95.
96.
97.
Brice J 《Diagnostic imaging》2000,22(11):83-8, 91
98.
Brice J 《Diagnostic imaging》2000,22(8):60-5, 79
99.
100.
Christophe Fermé Nicolas Mounier Marine Diviné Pauline Brice Aspasia Stamatoullas Oumedaly Reman Laurent Voillat Jér?me Jaubert Pierre Lederlin Philippe Colin Fran?oise Berger Gilles Salles 《Journal of clinical oncology》2002,20(2):467-475
PURPOSE: To evaluate prospectively the feasibility and efficacy of early intensive therapy, including intensified cytoreductive chemotherapy (CT) and high-dose CT (HDCT) followed by autologous stem-cell transplantation (ASCT), in patients with advanced Hodgkin's disease (HD) who failed to respond completely or relapsed after initial treatment. PATIENTS AND METHODS: Among 533 eligible patients with newly diagnosed stage IIIB-IV HD enrolled in the H89 trial, all 157 patients with induction failure (IF) (n = 67), partial response (PR) of less than 75% (n = 22), or relapse (n = 68) were included in this study. Planned salvage therapy included mitoguazone, ifosfamide, vinorelbine, and etoposide monthly for two to three cycles followed by high-dose carmustine, etoposide, cytarabine, and melphalan with ASCT. RESULTS: With a median follow-up of 50 months, the 5-year survival estimates were 30%, 72%, and 76% for the IF, PR, and relapse groups, respectively (P =.0001), 71% for the 101 patients given HDCT, and 32% for the 48 patients treated without HDCT (P =.0001). Multivariate analysis using time-dependent Cox model indicated that B symptoms at progression, salvage without HDCT, and chemoresistant disease before HDCT were significantly associated with shorter overall survival. CONCLUSION: Early intensive therapy improves the outcomes of patients with advanced HD who failed to respond completely to initial treatment and those who relapsed with adverse prognostic factors. However, for patients with IF and chemoresistant disease, this approach remains unsatisfactory. 相似文献