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S. V. Zabrodskaya Zh. V. Motylevich V. D. Makhaev D. A. Oparin R. V. Trebukhina 《Pharmaceutical Chemistry Journal》1994,28(10):724-727
Translated from Khimiko-farmatsevticheskii Zhurnal, Vol. 28, No. 10, pp. 29–31, October, 1994. 相似文献
64.
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Familial infiltrative fibromatosis (desmoid tumours) (MIM135290) caused by a recurrent 3' APC gene mutation 总被引:5,自引:2,他引:5
Scott RJ; Froggatt NJ; Trembath RC; Evans DG; Hodgson SV; Maher ER 《Human molecular genetics》1996,5(12):1921-1924
Desmoid tumours are generally very rare but occur about 100 times more
frequently in the colorectal cancer predisposition syndrome familial
adenomatous polyposis (MIM 175100), being represented in about 10% of
patients. In addition to desmoid disease occurring in familial adenomatous
polyposis (FAP) there exist familial infiltrative fibromatosis (MIM 135290)
kindreds where there is no evidence of FAP. Previously we have described a
kindred with familial infiltrative fibromatosis (FIF) in which desmoid
tumours were associated with nonpolyposis colorectal cancer. FAP is caused
by mutations in the APC gene and various genotype-phenotype relationships
have been defined including reports that colorectal polyposis is less
severe with mutations 5' to codon 157 and that the risk of desmoid tumours
is high in FAP patients with APC gene mutations between codons 1444 and
1598. There is relatively little information on the phenotype of APC gene
mutations 3' to codon 1598; however, one large family has been reported
with a mutation at codon 1987 which presents with a highly variable
phenotype which includes desmoid disease. We screened our original FIF
kindred and three further families with a similar phenotype for mutations
in the APC gene. A 4 bp frameshift deletion in codon 1962 was identified in
the original FIF kindred and two further apparently unrelated families.
Haplotype analysis suggests a common origin for the APC mutation in all
three families. Affected individuals had no evidence of congenital
hypertrophy of the retinal pigment epithelium. Colorectal polyposis was
variable, and most affected patients had either none or a few late onset
polyps. These findings demonstrate (i) that FAP and FIF are allelic, and
(ii) that APC gene mutations which truncate the APC protein distal to the
beta-catenin binding domain are associated with desmoid tumours, absent
CHRPE and variable but attenuated polyposis expression.
相似文献
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Sergio N Nemer Carmen SV Barbas Jefferson B Caldeira Thiago C Cárias Ricardo G Santos Luiz C Almeida Leandro M Azeredo Rosângela A Noé Bruno S Guimarães Paulo C Souza 《Critical care (London, England)》2009,13(5):R152
Introduction
Indexes predicting weaning outcome are frequently inaccurate. We developed a new integrative weaning index aimed at improving the accuracy of the traditional indexes. 相似文献69.
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SV Lourenço TP Hussein SB Bologna AM Sipahi MMS Nico 《Journal of the European Academy of Dermatology and Venereology》2010,24(2):204-207
Inflammatory bowel disease (IBD) comprises two chronic, tissue‐destructive, clinical entities: Crohn's disease (CD) and ulcerative colitis (UC), both immunologically based. Bowel symptoms are predominant, but extra‐intestinal complications may occur, including involvement of the oral cavity. Oral involvement during IBD includes several types of lesions: the most common are aphthae; uncommon lesions include, among others, pyostomatitis vegetans and granulomatous lesions of CD. Starting with a presentation of six patients with oral manifestations, which were crucial for the final diagnosis of IBD, a review on the subject is presented. Oral involvement in IBD may be previous or simultaneous to the gastrointestinal symptoms. However, in the majority of cases, bowel disease precedes the onset of oral lesions by months or years. In many patients, the intestinal symptoms may be minimal and can go undetected; thus, most authors believe that the bowel must be thoroughly examined in all patients with suspected IBD even in the absence of specific symptoms. Usually, the clinical course of oral lesions is parallel to the activity of IBD; therefore, oral manifestations are a good cutaneous marker of IBD. 相似文献