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Factor VIII (FVIII) gene rearrangements between the intron 22 F8A sequence in the FVIII gene and either of the two homologous F8A sequences 500 kilobases telomeric to the FVIII gene have recently been found to be responsible for the severe hemophilia A phenotype. We studied 27 patients with severe hemophilia A and 19 with moderate and mild hemophilia, and found FVIII gene rearrangement in 12 patients with severe hemophilia A and none in the patients with moderate or mild disease. Nine of the rearrangements were with the distal telomeric F8A sequence, two were with the proximal sequence, and one had variant distal rearrangement with loss of the FVIII intron 22 F8A band. Two patients with FVIII gene rearrangement had high responding inhibitors, contrary to one previous study suggesting that the presence of a FVIII gene rearrangement is correlated with the absence of inhibitor development. Carrier detection was performed in 17 female relatives, at risk of being carriers, from eight kindreds; 13 were carriers, being heterozygous for the normal and rearranged alleles. The rearrangement assay is particularly useful for carrier determination in families with sporadic cases of hemophilia not helped by linkage analysis with restriction fragment-length polymorphism or intragenic dinucleotide repeat analysis. In all five families with rearrangements and sporadic hemophilia, the mothers of all index patients were found to be carriers. 相似文献
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GD Zeze 《Canadian Metallurgical Quarterly》1995,88(4):187-193
Seasonal variations of Culex quinquefasciatus aggressiveness were studied in Abidjan where this mosquito is very harmful. Abidjan is crossed from East to West by the Ebrié lagoon, which is a vast expanse of brackish water (about 566 km2). In the North of this expanse of water lay continental plateaux and in the South lay low-plateaux. The city is composed of 10 districts, most of which are situated on the continental plateaux. Culex quinquefasciatus adult populations were caught monthly in 1989 on human bait traps in Abidjan 10 districts, one study place was located in each district. Captures took place outside the houses, in the dusk and during the first part of night, that is to say between 4 p.m. and 1 a.m. In Abidjan, Culex quinquefasciatus population density varies considerably within the city area. In the areas where the species is numerous, a high percentage of it seems to be developing all year through from breeding places which are, in most cases, permanent. Besides, the aggressiveness seasonal cycle which was registered in the above mentioned areas is particularly diversified. 相似文献
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A retrospective analysis of 41 patients treated for metastatic inguinal lymph node malignant melanoma is presented: 16 underwent inguinal node excision and 25 ilioinguinal node excision. The two groups were well matched for age, sex and other characteristics. The mean time in hospital (inguinal 20 days, ilioinguinal 18 days) and the complication rates (inguinal, ten of 16 patients, ilioinguinal, 13 of 25) were similar in each group. The incidence of groin relapse, defined as the development of symptomatic melanoma in the region of the inguinal or iliac node basins following block dissection, was lower after ilioinguinal block dissection (inguinal, three patients; ilioinguinal, none). Histological examination demonstrated a high proportion of iliac node involvement (13 of 25 patients), even in those with a single mobile inguinal lymph node clinically and no clinical or computed tomographic evidence of iliac node involvement. This supports the value of ilioinguinal block dissection and suggests that the associated morbidity need not be greater than that associated with inguinal clearance alone. 相似文献
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