257 research outputs found

    Rab3a and Rab27b Expression in Nonfunctioning Pituitary Adenomas

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    Patients with nonfunctioning pituitary adenoma (NFPA) have normal circulating levels of anterior pituitary hormones. Here we examined the expression of exocytic trafficking regulators, Rab27b and Rab3a, in surgically resected pituitary adenoma tissues by immunohistochemical (IHC) analysis using anti-Rab27b and anti-Rab3a antibodies. Among the examined tissues, just over half of the null-cell adenomas and one-third of the gonadotropin-producing adenomas were immunonegative for both Rab27b and Rab3a. However, no Rab-negative samples were observed among the functioning adenomas. These results suggested that downregulated Rab protein expression in anterior pituitary endocrine cells could underlie, at least in part, the hormone-secretion defects of nonfunctioning adenoma cells. Rab27b, Rab3a, and their cellular regulators might therefore be promising pathological markers of patients with NFPA

    Proteomic Profiling of Thyroid Papillary Carcinoma

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    Papillary thyroid carcinoma (PTC) is the most common endocrine malignancy. We performed shotgun liquid chromatography (LC)/tandem mass spectrometry (MS/MS) analysis on pooled protein extracts from patients with PTC and compared the results with those from normal thyroid tissue validated by real-time (RT) PCR and immunohistochemistry (IHC). We detected 524 types of protein in PTC and 432 in normal thyroid gland. Among these proteins, 145 were specific to PTC and 53 were specific to normal thyroid gland. We have also identified two important new markers, nephronectin (NPNT) and malectin (MLEC). Reproducibility was confirmed with several known markers, but the one of two new candidate markers such as MLEC did not show large variations in expression levels. Furthermore, IHC confirmed the overexpression of both those markers in PTCs compared with normal surrounding tissues. Our protein data suggest that NPNT and MLEC could be a characteristic marker for PTC

    Controlling salt and aroma perception through the inclusion of air fillers

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    Global dietary sodium consumption significantly exceeds the WHO recommended intake levels, although strategies are available for sodium reduction, most are partial product-specific solutions. A wider range of approaches is urgently required to enable food manufacturers to reduce sodium within processed foods. In this study, the addition of air inclusions within hydrogels has been evaluated for its ability to enhance the delivery of sodium and perception of saltiness and was shown, on a volume basis, to achieve an 80% reduction in total sodium with no loss of saltiness perception; the addition of a congruent aroma volatile was shown to enhance overall flavour perception in foamed systems. Air inclusions were shown to increase both the delivery and perception of salt and aroma, in addition to increasing overall flavour perception. This work will be of interest to both academic researchers in this field and industrialists looking for new approaches to mitigate loss of taste quality with sodium reduction

    Gene-specific ACMG/AMP classification criteria for germline APC variants: recommendations from the ClinGen InSIGHT Hereditary Colorectal Cancer/Polyposis Variant Curation Expert Panel

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    Purpose The Hereditary Colorectal Cancer/Polyposis Variant Curation Expert Panel (VCEP) was established by the International Society for Gastrointestinal Hereditary Tumours and the Clinical Genome Resource, who set out to develop recommendations for the interpretation of germline APC variants underlying Familial Adenomatous Polyposis, the most frequent hereditary polyposis syndrome. Methods Through a rigorous process of database analysis, literature review, and expert elicitation, the APC VCEP derived gene-specific modifications to the ACMG/AMP (American College of Medical Genetics and Genomics and Association for Molecular Pathology) variant classification guidelines and validated such criteria through the pilot classification of 58 variants. Results The APC-specific criteria represented gene- and disease-informed specifications, including a quantitative approach to allele frequency thresholds, a stepwise decision tool for truncating variants, and semiquantitative evaluations of experimental and clinical data. Using the APC-specific criteria, 47% (27/58) of pilot variants were reclassified including 14 previous variants of uncertain significance (VUS). Conclusion The APC-specific ACMG/AMP criteria preserved the classification of well-characterized variants on ClinVar while substantially reducing the number of VUS by 56% (14/25). Moving forward, the APC VCEP will continue to interpret prioritized lists of VUS, the results of which will represent the most authoritative variant classification for widespread clinical use
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