نتایج جستجو برای: deirdre shauna lynch
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El Síndrome de Lynch (SL) es considerado, un trastorno genético herencia autosómico dominante. Es llamado también cáncer colorrectal (CCR) hereditario no polipósico (CCRHNP), debido a que los portadores mutaciones patogénicas poseen alto riesgo desarrollar dicho cáncer. Los tipos asociados SL incluyen carcinomas endometrio, intestino delgado, estómago, páncreas y vías biliares, ovario, cerebro,...
BACKGROUND The risk to develop colorectal and endometrial cancers among subjects testing positive for a pathogenic Lynch syndrome mutation varies, making the risk prediction difficult. Genetic risk modifiers alter the risk conferred by inherited Lynch syndrome mutations, and their identification can improve genetic counseling. We aimed at identifying rare genetic modifiers of the risk of Lynch ...
I was interested to read the article by Lachiewicz and colleagues that appeared in a recent issue of Gynecologic Oncology (Lachiewicz et al., 2014). The authors conducted a retrospective chart review of patients with Lynch syndrome who had undergone surgery (hysterectomy and/or bilateral salpingo-oophorectomy); their purpose was to determine the prevalence of occult malignancy found during oper...
Congenital anomalies of the uterus may cause gynecologic, obstetric and fertility problems. Obstetrical complications are reported to occur more commonly with mullerian duct anomalies, such as postpartum hemorrhage (PPH). Uterine compression sutures may be effective in controlling PPH in these conditions as an alternative to hysterectomy, especially if the patient has a desire to conceive. As t...
Heritable germline epimutations in MSH2 have been reported in a few Lynch syndrome families that lacked germline mutations in the MSH2 gene. It is not known whether somatic MSH2 methylation occurs in MSH2 mutation-positive Lynch syndrome subjects or sporadic colorectal cancers (CRC). Therefore, we determined the methylation status of the MSH2 gene in 268 CRC tissues, including 222 sporadic CRCs...
Carriers of a germline mutation in one of the DNA mismatch repair (MMR) genes have a high risk of developing numerous different cancers, predominantly colorectal cancer and endometrial cancer (known as Lynch syndrome). MMR gene mutation carriers develop tumors with MMR deficiency identified by tumor microsatellite instability or immunohistochemical loss of MMR protein expression. Tumor MMR defi...
Lynch syndrome, caused by germline mutations in the mismatch repair genes, is associated with increased cancer risk. Here using a large whole-genome sequencing data bank, cancer registry and colorectal tumour bank we determine the prevalence of Lynch syndrome, associated cancer risks and pathogenicity of several variants in the Icelandic population. We use colorectal cancer samples from 1,182 p...
INTRODUCTION: Lynch syndrome was first described in the 1950s however until recently it was rarely included in medical school curricula. As a result, many practicing physicians have limited exposure, potentially contributing to significant under diagnosis. As identification of Lynch syndrome prior to malignancy allows for intensified screening, prophylactic surgery and improved patient outcomes...
This paper presents a general argument for a relevance-based approach to the problem of connectivity in conversation. First, the potential relevance of conversation for pragmatic theory is discussed, as examples in pragmatic theory generally consist of small conversations. A typical problem for conversation analysis and pragmatic analysis is the description of uses of pragmatic connectives. The...
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