Post by terpaysuclogua on May 8, 2019 8:02:07 GMT
Main category \ Multimedia Design
Sub category \ Audio
Developer \ hoTodi
Filesize \ 922
Title \ Mucoce
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MUCOCE VERS.1.2.1
Autosomal dominant osteopetrosis type II (ADO-II) is a heritable bone disorder characterized by osteosclerosis, predominantly involving the spine (vertebral end-plate thickening, or rugger-jersey spine), the pelvis ("bone-within-bone" structures) and the skull base. Chloride channel 7 (CLCN7) has been reported to be the causative gene. In this study, we aimed to identify the pathogenic mutation in four Chinese families with ADO-II. All 25 exons of the CLCN7 gene, including the exon-intron boundaries, were amplified and sequenced directly in four probands from the Chinese families with ADO-II. The mutation site was then identified in other family members and 250 healthy controls. In family 1, a known missense mutation c.296A>G in exon 4 of CLCN7 was identified in the proband, resulting in a tyrosine (UAU) to cysteine (UGU) substitution at p.99 (Y99C); the mutation was also identified in his affected father. In family 2, a novel missense mutation c.865G>C in exon 10 was identified in the proband, resulting in a valine (GUC) to leucine (CUC) substitution at p.289 (V289L); the mutation was also identified in her healthy mother and sister. In family 3, a novel missense mutation c.1625C>T in exon 17 of CLCN7 was identified in the proband, resulting in an alanine (GCG) to valine (GUG) substitution at p.542 (A542V); the mutation was also identified in her father. In family 4, a hot spot, R767W (c.2299C>T, CGG>TGG), in exon 24 was found in the proband which once again proved the susceptibility of the site or the similar genetic background in different races. Moreover, two novel mutations, V289L and A542V, occurred at a highly conserved position, found by a comparison of the protein sequences from eight vertebrates, and were predicted to have a pathogenic effect by PolyPhen-2 software, which showed "probably damaging" with a score of approximately 1. These mutation sites were not identified in 250 healthy controls. Our present findings suggest that the novel missense Hssaine, K; Belhoucha, B; Rochdi, Y; Nouri, H; Aderdour, L; Raji, A Stinton, Laura M. Preferences Recent reports have indicated that overexpression of mucin (MUC) 1 and/or MUC4 correlates with the occurrence and progression of extra-hepatobiliary malignancy. In this study, we investigated the expression of MUC1 and MUC4 and their prognostic significance in gallbladder adenocarcinoma. We examined 54 surgical gallbladder adenocarcinoma samples by immunohistochemistry for MUC1 and MUC4 expression. Staining was evaluated as a sum score of extent and intensity, dividing the samples into low and high expression groups. The low expression group for both MUC1 and MUC4 was 10 samples (18.5%), and the high expression group was 44 samples (81.5%). High MUC1 expression was significantly correlated with more differentiated tumors (p=0.033), whereas high expression of MUC4 correlated with negative nodal status (p=0.012). Other pathological features were not correlated with MUC expression. Multivariate cox regression analysis showed that neither MUC1 nor MUC4 expression correlated with survival. Although there were some correlations found, a prognostic role for either MUC1 or MUC4 expression in gallbladder carcinoma was not identified in this study. Further investigation is required. KMPlayer v0.3.2 MacOSX -
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A number of suggested alternatives and emendations to the 7-day SeHCAT retention test have been compared with whole-body counting. It was found that correction for colonic retention is an unnecessary complication in patients with diarrhoea and that imaging either of the gall-bladder or of the distribution of activity in the intestines at 24 h does not add useful information to the standard 7-day retention measurement. Neither could the patterns of colonic uptake identified in patients following extensive ideal resection or radiotherapy be reproduced in patients with idiopathic diarrhoea. Sadly it must be concluded that neither of these shortened techniques is of clinical value in patients with intact small bowel and that there remains no reliable alternative to the 7-day Se HCAT retention test. The simplest technique the best.
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The diagnosis of blunt injury to the gallbladder may constitute a significant challenge to the diagnostician. There is often a delay in presentation with non-specific clinical symptoms. In the absence of reliable clinical symptoms, diagnostic imaging becomes an invaluable tool in the rapid identification of gallbladder injury. We present a case of isolated gallbladder injury following blunt abdominal trauma which was diagnosed by computed tomography and subsequently confirmed by cholecystectomy.
E. Spleen and lymphatics
& covered by layer of mucosa.9,10,11 They are not encap-
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