Intra-Familial Phenotypic Heterogeneity and Telomere Abnormality in von Hippel- Lindau Disease: Implications for Personalized Surveillance Plan and Pathogenesis of VHL-Associated Tumors
This study provides definitive evidence and possible mechanisms of intra-familial phenotypic heterogeneity in VHL families, which is helpful to the update of surveillance guidelines. Introduction von Hippel-Lindau (VHL) disease (MIM 193300) is a rare autosomal dominant cancer syndrome caused by germline mutations in the VHL tumor suppressor gene (Latif et al., 1993; Lonser et al., 2003). Generally, the first VHL-related manifestation occurred in the third decade of patient’s life, and the penetrance is more than 90% by 70 years old (Ong et al., 2007; Nordstrom-O’brien et al., 2010). Patients may develop various tumor types from early childhood through adulthood, including central nervous system hemangioblastomas (CHB), retinal hemangioblastomas (RA), clear cell renal cell carcinoma (RCC), pancreatic cyst and neuroendocrine tumors (PCT), pheochromocytomas (PHEO), endolymphatic sac tumors (ELST), epididymal, and broad ligament cystadenomas (Walther and Linehan, 1996; Lonser et al., 2003, 2004; Butman et al., 2008). The VHL gene is located on chromosome 3p25–26 and codes for VHL protein (pVHL), which is one of the most important tumor suppressor proteins (Gossage et al., 2015). pVHL forms an E3 ligase complex with elongation factor C and B (elongin C/B), cullin 2 (CUL2), and RING finger protein (RBX1), and is critical for the ubiquitination and proteasomal degradation of HIF-α and other proteins (Gossage et al., 2015). The accumulation of HIF-&al...
Publication date: 15 February 2021Source: Journal of Hazardous Materials, Volume 404, Part BAuthor(s): Yanhua Liu, Yang Li, Shanshan Dong, Lu Han, Ruixin Guo, Yourong Fu, Shenghu Zhang, Jianqiu Chen
Publication date: 15 February 2021Source: Journal of Hazardous Materials, Volume 404, Part AAuthor(s): Zhongyi Zhang, Wen-Xiong Wang, Nengjian Zheng, Yansheng Cao, Hongwei Xiao, Renguo Zhu, Hui Guan, Huayun Xiao
Authors: Musio F Abstract INTRODUCTION: Anemia has and will continue to be a central theme in medicine particularly as clinicians are treating a burgeoning population of complex multi-organ system processes. As a result of multiple randomized controlled trials (RCTs), meta-analyses, and societal recommendations overly restrictive paradigms and under-administration of erythropoiesis stimulating agents (ESAs) have likely been followed by clinicians among all specialties. AREAS COVERED: A review of anemia in the context of chronic kidney disease, hematologic malignancies and cancer is presented with focus on the e...
Publication date: January 2021Source: Urology Case Reports, Volume 34Author(s): Nina Al-Saadi, Safa Al-Musawi, Yousuf Khan, Daben Dawam
Publication date: Available online 10 October 2020Source: European UrologyAuthor(s): Stanley Weng, Renzo G. DiNatale, Andrew Silagy, Roy Mano, Kyrollis Attalla, Mahyar Kashani, Kate Weiss, Nicole E. Benfante, Andrew G. Winer, Jonathan A. Coleman, Victor E. Reuter, Paul Russo, Ed Reznik, Satish K. Tickoo, A. Ari Hakimi
[Unilateral Irregularities in the Macular Pigment Epithelium in a 38-Year-Old Patient - "Acute Retinal Pigment Epitheliitis"]. Klin Monbl Augenheilkd. 2020 Oct 09;: Authors: Wykrota AA, Löw U, Fries FN, Seitz B, Abdin AD PMID: 33036057 [PubMed - as supplied by publisher]
Publication date: Available online 9 October 2020Source: Cirugía Española (English Edition)Author(s): Victoria Lucas-Guerrero, Mireia Pascua-Solé, José Luis Ramos Rodríguez, Anna Trinidad Borrás, Carlos González de Pedro, José María Jover Navalón, Pere Rebasa, Eduardo M. Targarona Soler, Xavier Serra-Aracil, on behalf of the Comisión Nacional de la Especialidad de Cirugía General y del Aparato Digestivo, de la Sección de Formación de la Asociación Española de Cirujanos
Publication date: Available online 10 October 2020Source: Respiratory Medicine Case ReportsAuthor(s): Vipul Patel, Tilottama Majumdar, Isha Samreen, Harpreet Grewal, Thomas Kaleekal
Authors: Schep LJ, Slaughter RJ, Glue P, Gee P Abstract Cannabis is one of the most widely used recreational drugs in the world. Tetrahydrocannabinol (THC) is the psychoactive principal constituent of the cannabis plant (Cannabis sativa). It is taken either orally or by inhalation, resulting in sedation, euphoria, relaxation and loss of social inhibition. Adverse effects from higher doses can include fear, distrust and a profound state of unease, hallucinations, ataxia, stupor and seizures. Long-term use can result in respiratory and cardiovascular toxicity and has been associated with a range of psychiatric condit...
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