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Stephanie A. Castillo Anh K. Pham Dorothea T. Barton Joel A. Lefferts Shaofeng Yan Julia A. Bridge Konstantinos Linos 《Journal of cutaneous pathology》2019,46(3):226-230
Melanoma ex blue nevus (MEBN) is a rare, aggressive, and potentially lethal neoplasm. Distinguishing MEBN from an atypical cellular blue nevus can be very challenging. We report a diagnostically difficult case of MEBN with lymph node metastases, in which single nucleotide polymorphism array and fluorescence in situ hybridization were used to arrive at the correct diagnosis. It was also analyzed by the recently‐introduced proprietary 23‐gene expression signature test. To the best of our knowledge, this is the second reported case of MEBN analyzed by the 23‐gene expression signature, which provided a false‐negative result. More studies are needed to assess the sensitivity and specificity of this test in various melanocytic proliferations. 相似文献
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Mei Yin Wong Katrina A. Andrews Benjamin G. Challis Soo‐Mi Park Carlo L. Acerini Eamonn R. Maher Ruth T. Casey 《Clinical endocrinology》2019,90(4):499-505
The succinate dehydrogenase (SDH) enzyme complex functions as a key enzyme coupling the oxidation of succinate to fumarate in the citric acid cycle. Inactivation of this enzyme complex results in the cellular accumulation of the oncometabolite succinate, which is postulated to be a key driver in tumorigenesis. Succinate accumulation inhibits 2‐oxoglutarate‐dependent dioxygenases, including DNA and histone demethylase enzymes and hypoxic gene response regulators. Biallelic inactivation (typically resulting from one inherited and one somatic event) at one of the four genes encoding the SDH complex (SDHA/B/C/D) is the most common cause for SDH deficient (dSDH) tumours. Germline mutations in the SDHx genes predispose to a spectrum of tumours including phaeochromocytoma and paraganglioma (PPGL), wild type gastrointestinal stromal tumours (wtGIST) and, less commonly, renal cell carcinoma and pituitary tumours. Furthermore, mutations in the SDHx genes, particularly SDHB, predispose to a higher risk of malignant PPGL, which is associated with a 5‐year mortality of 50%. There is general agreement that biochemical and imaging surveillance should be offered to asymptomatic carriers of SDHx gene mutations in the expectation that this will reduce the morbidity and mortality associated with dSDH tumours. However, there is no consensus on when and how surveillance should be performed in children and young adults. Here, we address the question: “What age should clinical, biochemical and radiological surveillance for PPGL be initiated in paediatric SDHx mutation carriers?”. 相似文献
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Moheet Asma M. Shapshak Angela H. Brissie Megan A. Abulhasan Yasser B. Brophy Gretchen M. Frontera Jennifer Hall Wiley R. John Sayona Kalanuria Atul A. Kumar Abhay Lele Abhijit V. Mainali Shraddha May Casey C. Mayer Stephan A. McCredie Victoria Silva Gisele S. Singh Jeffrey M. Steinberg Alexis Sung Gene Tesoro Eljim P. Yakhkind Aleksandra 《Neurocritical care》2020,33(1):13-19
Neurocritical Care - 相似文献
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Shaffer Paige M. Smelson David A. Gaba Ayorkor Casey Sheila C. 《International journal of mental health and addiction》2022,20(2):1046-1062
International Journal of Mental Health and Addiction - Little research has focused on systematically integrating clinical treatment within drug court settings (a type of specialty court, and the... 相似文献
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Nicholas M. Hales Caleb C. Barton Michael R. Ransom Ryan T. Allen C. Arden Pope III 《Medicine》2016,95(9)
Fine particulate air pollution (PM2.5) has been associated with many adverse health outcomes including school absences. Specifically, a previous study in the Utah Valley area, conducted during a time with relatively high air pollution exposure, found significant positive correlations between school absences and air pollution.We examined the hypothesis that ambient PM2.5 exposures are associated with elementary school absences using a quasi-natural experiment to help control for observed and unobserved structural factors that influence school absences. The Alpine, Provo, and Salt Lake City school districts are located in valleys subject to daily mean PM2.5 concentrations almost twice as high as those in the Park City School District. We used seminonparametric generalized additive Poisson regression models to evaluate associations between absences and daily PM2.5 levels in the 3 districts that were exposed to the most pollution while using Park City absences as a quasi-control. The study covered 3 school years (2011/12-2013/14).School absences were most strongly associated with observed structural factors such as seasonal trends across school years, day-of-week effects, holiday effects, weather, etc. However, after controlling for these structural factors directly and using a control district, a 10 μg/m3 increase in PM2.5 was associated with an approximately 1.7% increase in daily elementary school absences.Exposure to ambient air pollution can contribute to elementary school absences, although this effect is difficult to disentangle from various other factors. 相似文献
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