A Novel RNF139 Mutation in Hemangioblastomas: Case Report

This report supports that the novel mutation of RNF139 p.Q650R probably serve as a key role in HBs progression. Introduction Central nervous system hemangioblastomas (HBs) are benign tumors which usually occur in cerebellum (1), and the pathogenesis of HBs is still unknown. According to the revised World Health Organization (WHO) classification of tumors of the nervous system published in 2000, HBs were classified to the tumors of uncertain histogenesis. The morphology code of the International Classification of Diseases for Oncology (ICD-O)is 9161/1, grade I. HBs are composed of mesenchymal cells and abundant capillaries, so it can also be called as capillary HBs. Some patients are accompanied with Von Hippel-Lindau (VHL) disease (2). VHL, an autosomal dominant hereditary disease, is one of the familial neoplastic syndromes affecting the nervous system (3). It has a broad spectrum of clinical manifestation, in which about 40 different lesions in 14 organs have been described. It is characterized by the occurrence of retinal or central nervous system HBs, renal clear-cell carcinoma, pheochromocytoma, pancreatic, and internal auditorytumors (4, 5), resulting from the germline mutation of the VHL tumor suppressor gene located on chromosome 3P25-26. The prevalence of VHL ranges from 1: 36,000 to 1: 45,500 (6). Males and females are equally affected. In clinic, HBs patients often show progressively increasing intracranial pressure with unilateral cerebellar dysfunction, ...
Source: Frontiers in Neurology - Category: Neurology Source Type: research

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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
Source: Journal of Hazardous Materials - Category: Environmental Health Source Type: research
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
Source: Journal of Hazardous Materials - Category: Environmental Health Source Type: research
We describe the most highly recommended generic and disease-specific PRO tools in SCD and discuss the challenges of incorporating them in clinical practice. EXPERT OPINION: PRO measures are essential to incorporate into SCD clinical trials either as primary or secondary outcomes. The use of PRO measures in SCD facilitates a patient-centered approach, which is likely to lead to improved outcomes. Significant challenges remain in adapting PRO tools to routine clinical use and in developing countries. PMID: 33034214 [PubMed - as supplied by publisher]
Source: Expert Review of Hematology - Category: Hematology Tags: Expert Rev Hematol Source Type: research
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...
Source: Expert Review of Hematology - Category: Hematology Tags: Expert Rev Hematol Source Type: research
Publication date: January 2021Source: Urology Case Reports, Volume 34Author(s): Nina Al-Saadi, Safa Al-Musawi, Yousuf Khan, Daben Dawam
Source: Urology Case Reports - Category: Urology & Nephrology Source Type: research
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
Source: European Urology - Category: Urology & Nephrology Source Type: research
CONCLUSIONS: Immunohistochemistry seems to be a promising option not only in clinical recognition, but also in the selection and monitoring of treatment effects. However, these methods have not yet recommended for routine clinical use. PMID: 33032462 [PubMed - as supplied by publisher]
Source: Scandinavian Journal of Gastroenterology - Category: Gastroenterology Tags: Scand J Gastroenterol Source Type: research
CONCLUSION: In this study, no influence of tear substitutes containing different viscosities of hyaluronic acid on the measurement results of optical coherence tomography could be determined. Therefore, 0.1%, 0.2% and 0.3% hyaluronic acid can be applied to the patient to improve the corneal surface before the examination with optical coherence tomography, without influencing the measurement results of optical coherence tomography. PMID: 33036058 [PubMed - as supplied by publisher]
Source: Klinische Monatsblatter fur Augenheilkunde - Category: Opthalmology Tags: Klin Monbl Augenheilkd Source Type: research
[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]
Source: Klinische Monatsblatter fur Augenheilkunde - Category: Opthalmology Tags: Klin Monbl Augenheilkd Source Type: research
Currently in fellowship doing bread/butter procedures (MBB, epidurals, PNB, few SCS/PNS trials, etc.) and just interviewed at a private practice spot where they do a lot of procedures that I will have not done any training in prior to graduating (e.g. IT pump, SI fusion, Vertiflex, Kypho, MILD, Discectomy, lots of SCS/PNS trials etc) and significant amount of "OR pain procedures" at a very busy practice seeing 30-40 pts/day - how many of you are commonly performing these procedures and are... private practice concern
Source: Student Doctor Network - Category: Universities & Medical Training Authors: Tags: Pain Medicine Source Type: forums
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