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51.
Crosnier C Driancourt C Raynaud N Dhorne-Pollet S Pollet N Bernard O Hadchouel M Meunier-Rotival M 《Gastroenterology》1999,116(5):1141-1148
BACKGROUNDS & AIMS: Mutations in the JAGGED1 gene are responsible for the Alagille syndrome, an autosomal dominant disorder characterized by neonatal jaundice, intrahepatic cholestasis, and developmental disorders affecting the liver, heart, vertebrae, eyes, and face. We screened a large group of patients for mutations in JAGGED1 and studied transmission of the mutations. METHODS: The coding sequence of the JAGGED1 gene was searched by single-strand conformation polymorphism and sequence analysis for mutations in 109 unrelated patients with the Alagille syndrome and their family if available. RESULTS: Sixty-nine patients (63%) had intragenic mutations, including 14 nonsense mutations, 31 frameshifts, 11 splice site mutations, and 13 missense mutations. We identified 59 different types of mutation of which 54 were previously undescribed; 8 were observed more than once. Mutations were de novo in 40 of 57 probands. CONCLUSIONS: Most of the observed mutations other than the missense mutations in JAGGED1 are expected to give rise to truncated and unanchored proteins. All mutations mapped to the extracellular domain of the protein, and there appeared to be regional hot spots, although no clustering was observed. Thus, the sequencing of 7 exons of JAGGED1 would detect 51% of the mutations. Transmission analysis showed a high frequency of sporadic cases (70%). 相似文献
52.
Coutant G Lecoules S Desramé J Camparo P Gros P Rapp C Raynaud JJ Béchade D Algayres JP 《La Revue de médecine interne / fondée ... par la Société nationale francaise de médecine interne》2005,26(3):242-246
INTRODUCTION: Inflammatory pseudotumor of lymph node is a rare case in the etiology of fever of unknown origin. OBSERVATION: We report the observation of a woman, aged 40, hospitalized with intermittent fever revealing under-diaphragm adenopathy related to inflammatory pseudotumor of lymph node. CONCLUSION: Inflammatory pseudotumor of lymph node is a rare pathology whose nosological definition is unclear. It should probably be considered as belonging to a category different from the inflammatory pseudotumor of other organs. The diagnosis presents itself in case of isolated adenopathy or prolonged fever and is based on an anatomopathology that essentially calls to mind a lymphoma. The evolution of the condition is shown to be favorable : it can lead to a spontaneous remission, or call for a non-steroid anti-inflammatory treatment, or a steroid therapy. 相似文献
53.
alpha-Fetoprotein, the estradiol-binding plasma protein (EBP), binds estradiol but not R 2858 (11beta-methoxy-17-ethynyl-estradiol) specifically. R 2858 interferes more markedly than estradiol with the sexual differentiation of the male rat fetus following treatment of the mother during the final stages of gestation. Moreover, its tissular uptake is higher. These facts suggest that alpha-fetoprotein protects the fetus from the high circulating hormone concentrations present in the pregnant mother. The hormone, once transferred to the fetus, is retained in its vascular bed by EBP. 相似文献
54.
L F Garnier G Fran?ois B Charbonnier M Lang P Raynaud M Brochier 《Annales de cardiologie et d'angeiologie》1987,36(6):313-317
From 1982 to 1984 included, 31 patients under 70 years of age were admitted during the first three hours of a primary myocardial infarction (MI) and are the subject of a randomized prospective study. 16 patients are treated with 5,000 U of heparin given in intravenous bolus, followed with 150,000 IU of urokinase (UK) in intravenous bolus, then 12,000 IU of UK/min for 90 min or a total dose of 1,230,000 IU. 15 patients are treated with heparin alone (intravenous bolus of 5,000 U). Repeated titrations of creatine phosphokinase (CPK) and the coagulation parameters are performed during the first 24 hours. A coronary angiography with ventriculography (RAO 30 degrees) is performed on the 1st day (D1) and the 3rd week (W3). Study of the left ventricular kinetics (LV) is carried out according to the Stanford method. At D1, the rate of coronary patency is 56 p cent (n = 9) in the UK (A) group and 53 p. cent (n = 8) in the control group B (heparin alone). The percentage of late re-thrombosis is 0 p. cent in group A and 12.5 p. cent in group B (heparin alone). 1 patient died in each group. The CPK peak is less high in case of coronary patency in group A than in case of thrombosis (1,444 +/- 413 vs 1,710 +/- 120 U -heparin alone) and occurs earlier (16 +/- 2 h vs 21 +/- 1 h). In group A a significant decrease of fibrinogen (p. 0.01) as well as plasminogen and alpha-2-antiplasmins (p less than 0.001), is noted. No severe haemorrhagic complications nor sustained rhythm disorders are noted.(ABSTRACT TRUNCATED AT 250 WORDS) 相似文献
55.
Bash RO; Crist WM; Shuster JJ; Link MP; Amylon M; Pullen J; Carroll AJ; Buchanan GR; Smith RG; Baer R 《Blood》1993,81(8):2110-2117
Alteration of the TAL1 locus is the most common nonrandom genetic defect in childhood T-cell acute lymphoblastic leukemia (T-ALL). To determine if rearrangements of the TAL1 proto-oncogene confer a distinct leukemic phenotype, we studied leukemic peripheral blood or bone marrow samples from 182 children with newly diagnosed T-ALL enrolled on Pediatric Oncology Group treatment protocols. Forty-eight (26%) of the samples had a local rearrangement of the TAL1 locus. Demographic and clinical features were compared for patient subgroups with and without TAL1 rearrangements. The only clinical correlates that were significantly associated with TAL1 gene rearrangements were higher white blood cell count (P = .017) and higher hemoglobin (P = .007) at diagnosis. Immunophenotypically, samples with altered TAL1 were more likely to be CD2+ (P = .001) and lack CD10 (cALLa) expression (P = .007) than those without the rearrangement. There was a trend toward improved event-free survival (EFS) in patients with TAL1 rearrangements (4-year EFS was 44% +/- 7% for patients without the rearrangements v 59% +/- 11% for those with rearrangements), but the difference was not significant (P = .34). The role of TAL1 in leukemogenesis has yet to be clearly defined, and the prognostic significance of TAL1 gene rearrangements in T-ALL deserves further study. 相似文献
56.
Marijt WA; Veenhof WF; Goulmy E; Willemze R; van Rood JJ; Falkenburg JH 《Blood》1993,82(12):3778-3785
HLA-identical bone marrow transplantation (BMT) may be complicated by graft-versus-host disease or graft rejection. Both complications are thought to be initiated by recognition of minor histocompatibility (mH) antigens by HLA-restricted mH-antigen-specific T lymphocytes. Using HLA- A2-restricted mH antigens HA-1-, -2-, and -4-, and HY-specific cytotoxic T lymphocyte (CTL) clones, we studied the recognition by these CTL clones of interleukin-2 (IL-2)-stimulated T cells (IL-2 blasts), BM mononuclear cells (BMMNCs), and hematopoietic progenitor cells (HPCs). We showed that, when IL-2 blasts from the BM donors who were investigated were recognized by the HA-1-, -2-, and -4-, and HY- specific CTL clones, their BMMNCs and HPCs were recognized as well by these CTL clones, resulting in antigen-specific growth inhibition of erythrocyte burst-forming units (BFU-E), colony-forming units- granulocyte (CFU-G), and CFU-macrophage (CFU-M). the HA-2-specific CTL clone, however, inhibited BFU-E and CFU-G growth from four donors to a lesser extent than from two other donors. We further investigated whether inhibitory cytokines released into the culture medium by the antigen-specific stimulated CTLs or by stimulated BMMNCs were responsible for suppression of HPC growth or whether this effect was caused by direct cell-cell contact between CTLs and HPCs. HPC growth inhibition was only observed after preincubation of BMMNCs and CTLs together for 4 hours before plating the cells in semisolid HPC culture medium. When no cell-cell contact was permitted before plating, neither antigen-stimulated CTL nor antigen-nonstimulated CTLs provoked HPC growth inhibition. Culturing BMMNCs in the presence of supernatants harvested after incubation of BMMNCs and CTL clones together for 4 or 72 hours did also not result in HPC growth inhibition. Both suppression of HPC growth and lysis of IL-2 blasts and BMMNCs in the 51Cr-release assay appeared to be dependent on direct cell-cell contact between target cells and CTLs and were not caused by the release of inhibitory cytokines into the culture medium by antigen-specific stimulated CTLs or by stimulated BMMNCs. Our results show that mH-antigen-specific CTLs can inhibit HPC growth by a direct cytolytic effect and may therefore be responsible for BM graft rejection after HLA-identical BMT. 相似文献
57.
Corzo D; Yunis JJ; Salazar M; Lieberman JA; Howard A; Awdeh Z; Alper CA; Yunis EJ 《Blood》1995,86(10):3835-3840
Genes of the major histocompatibility complex (MHC) have been associated with susceptibility to drug-induced adverse reactions. We previously found that clozapine-induced agranulocytosis (CA) is associated with the HLA-DRB1*0402, DRB4*0101, DQB1*0302, DQA1*0301 haplotype in Ashkenazi Jewish patients and with the HLA-DRB1*1601, DRB5*02, DQB1*0502, DQA1*0102 haplotype in non-Jewish patients. In the present study, we tested the hypothesis that the variants of the heat- shock protein 70 (HSP-70) encoded by the HSP-70 loci located within the MHC region and known to be involved in apoptosis and regulation of cell proliferation could play an important role in molecular mechanisms of CA. First, we analyzed HSP70-2 polymorphism in risk-associated haplotypes from HLA homozygous cells and normal individuals and confirmed that the HSP70-2 9-kb variant was associated invariably with DR4 (HLA-DRB1*0402, DQB1*0302) and DR2 (HLA-DRB1*01601, DQB1*0502, DQA1*0102 and HLA-DRB1*1501, DQB1*0602) haplotypes, which were the haplotypes found increased in Jewish and non-Jewish patients with CA, respectively. The 9.0-kb variant was also found to be associated with HLA-B44, DRB1*0401 and HLA-B44, DRB1*07 haplotypes. Second, in patients with CA (12 Ashkenazi Jewish and 20 non-Jewish patients), HSP70-1 A and HSP70-2 9.0-kb variants were associated with the MHC haplotypes found by us to be markers of susceptibility to CA. The clozapine-treated control group had an excess number of HSP70-1 C and HSP70-2 8.5-kb variants, consistent with genetic resistance to CA associated with those variants. This finding supports our hypothesis that a dominant gene within the MHC region (marked by HSP70-1 and HSP70-2), but not necessarily HLA, is associated with CA in two different ethnic groups. 相似文献
58.
Optic neuropathy,cardiomyopathy, cognitive disability in patients with a homozygous mutation in the nuclear MTO1 and a mitochondrial MT‐TF variant
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Majida Charif Salah Mohamed Cherif Titah Agathe Roubertie Valérie Desquiret‐Dumas Naig Gueguen Isabelle Meunier Jean Leid Frédéric Massal Xavier Zanlonghi Jacques Mercier Eric Raynaud de Mauverger Vincent Procaccio Bénédicte Mousson de Camaret Guy Lenaers Christian P. Hamel 《American journal of medical genetics. Part A》2015,167(10):2366-2374
59.
60.
A Mocroft B Neesgard R Zangerle A Rieger A Castagna V Spagnuolo A Antinori FC Lampe M Youle JJ Vehreschild C Mussini V Borghi J Begovac C Duvivier HF Gunthard A Rauch J Tiraboschi N Chkhartishvili N Bolokadze F Wit JC Wasmuth S De Wit C Necsoi C Pradier V Svedhem C Stephan K Petoumenos H Garges F Rogatto L Peters L Ryom 《HIV medicine》2020,21(9):599-606