Search results for " and neonatal diseases and abnormalities"
showing 4 items of 344 documents
Testing for Lynch Syndrome in Endometrial Carcinoma: From Universal to Age-Selective MLH1 Methylation Analysis
2022
Simple Summary International guidelines recommend universal screening of endometrial carcinoma patients for Lynch syndrome, a hereditary cancer predisposition syndrome. Screening is based on mismatch repair protein immunohistochemistry and reflex MLH1 methylation analysis to exclude the likely sporadic cases of MMR deficiency. As sporadic MLH1 protein loss is common in endometrial carcinoma, the ability to target methylation testing would save efforts and costs. We discovered that limiting methylation testing to patients under 65 years would have significantly reduced the testing effort while maintaining a low false negative rate for MLH1-LS detection (0% and 3% in our clinic and registry-b…
Race in Young Adult Speculative Fiction by Gilbert-Hickey and Gren-Barteet - books in review
2022
Race in Young Adult Speculative Fiction by Gilbert-Hickey and Gren-Barteet - books in review
Oral manifestations of Cowden?s disease : presentation of a clinical case
2006
Cowden?s disease, or multiple hamartoma syndrome, is an autosomal dominant genodermatosis, characterized by the presence of multiple cutaneous hamartomas, oral fibromas and benign acral keratosis. It affects multiple organs (breast, thyroids, stomach, colon), with the strong possibility of malignant neoplasia developing in these organs. We present a case of this rare syndrome, highlighting the presentation of some clinical characteristics that, in suspected cases, can help to establish an early diagnosis of this disease, this being of great importance given the high frequency of tumors in people with this clinical picture.
Interaction of the n-terminal domain of human t1r2 taste receptor with brazzein, a sweet-tasting protein
2015
Brazzein is a small (6.5 kDa) sweet-tasting protein originating from the fruit of Pentadiplandra brazzeana, a plant found in West Africa. Brazzein like all classes of sweet compounds is perceived through the activation of the T1R2/T1R3 heterodimeric sweet-taste receptor. T1R2 and T1R3 subunits are members of the small family of class C G-protein coupled receptors (GPCRs). Class C GPCRs possess a large N-terminal domain (NTD) linked to seven transmembrane domain by a cysteine rich domain (CRD). The NTD of T1R2 (T1R2-NTD) has been shown to contain the primary binding site for most of the sweet ligands. However, brazzein has been shown to require CRD of human T1R3 for receptor activation [1]. …