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Andrea Ronchi MD Marco Montella MD Federica Zito Marino BD PhD Giuseppe Argenziano MD PhD Elvira Moscarella MD Gabriella Brancaccio MD Giuseppe Ferraro MD Giovanni Francesco Nicoletti MD Teresa Troiani MD Renato Franco MD PhD Immacolata Cozzolino MD PhD 《Cancer cytopathology》2022,130(1):18-29
Malignant melanoma (MM) is a highly aggressive neoplasm with a growing worldwide incidence. It is not uncommon that the disease is already metastatic at the time of the first diagnosis. Regional lymph nodes and skin are the first and most common metastatic sites, followed by distant visceral sites (lungs, liver, and central nervous system) and bone. In this clinical setting, fine-needle aspiration (FNA) often represents the first diagnostic approach. FNA is a useful tool to obtain a rapid and accurate diagnosis, in conjunction with ancillary techniques and molecular analysis, as recommended by recent guidelines. The aim of this review was to describe the cytomorphology, immunocytochemical tools, and molecular tools used for the diagnosis of MM metastases on FNA. 相似文献
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Scott R. Bauer MD ScM Peggy M. Cawthon PhD MPH Kristine E. Ensrud MD Anne M. Suskind MD MS John C. Newman MD PhD Howard A. Fink MD MPH Kaiwei Lu MS Rebecca Scherzer PhD Andrew R. Hoffman MD Kenneth Covinsky MD Lynn M. Marshall ScD For the Osteoporotic Fractures in Men Research Group 《Journal of the American Geriatrics Society》2022,70(4):1082-1094
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Silvia Radenkovic Diego Martinelli Yuebo Zhang Graeme J. Preston Arianna Maiorana Alessandra Terracciano Maria Lisa Dentici Elisa Pisaneschi Antonio Novelli Wasantha Ranatunga Anna N. Ligezka Bart Ghesquière David R. Deyle Tamas Kozicz Filippo Pinto e Vairo Peter Witters Eva Morava 《Genetics in medicine》2022,24(4):894-904
PurposeTRAPPC9 deficiency is an autosomal recessive disorder mainly associated with intellectual disability (ID), microcephaly, and obesity. Previously, TRAPPC9 deficiency has not been associated with biochemical abnormalities.MethodsExome sequencing was performed in 3 individuals with ID and dysmorphic features. N-Glycosylation analyses were performed in the patients’ blood samples to test for possible congenital disorder of glycosylation (CDG). TRAPPC9 gene, TRAPPC9 protein expression, and N-glycosylation markers were assessed in patient fibroblasts. Complementation with wild-type TRAPPC9 and immunofluorescence studies to assess TRAPPC9 expression and localization were performed. The metabolic consequences of TRAPPC9 deficiency were evaluated using tracer metabolomics.ResultsAll 3 patients carried biallelic missense variants in TRAPPC9 and presented with an N-glycosylation defect in blood, consistent with CDG type I. Extensive investigations in patient fibroblasts corroborated TRAPPC9 deficiency and an N-glycosylation defect. Tracer metabolomics revealed global metabolic changes with several affected glycosylation-related metabolites.ConclusionWe identified 3 TRAPPC9 deficient patients presenting with ID, dysmorphic features, and abnormal glycosylation. On the basis of our findings, we propose that TRAPPC9 deficiency could lead to a CDG (TRAPPC9-CDG). The finding of abnormal glycosylation in these patients is highly relevant for diagnosis, further elucidation of the pathophysiology, and management of the disease. 相似文献
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