Results 71 to 80 of about 115,119 (287)

Diagnostic Odyssey of Atypical Long‐Chain 3‐Hydroxyacyl‐CoA Dehydrogenase Deficiency (LCHADD) Explained by Three Allelic Products From Two Pathogenic Variants

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Long‐chain 3‐hydroxyacyl‐CoA dehydrogenase deficiency (LCHADD) is an autosomal recessive mitochondrial defect of long‐chain fatty acid β‐oxidation, caused by biallelic pathogenic variants in HADHA or HADHB. We report a 22‐year‐old male with an atypically mild presentation of LCHADD who was referred to the Undiagnosed Diseases Network (UDN ...
Yutaka Furuta, Lynette C. Rives, T. Andrew Burrow, Thomas A. Cassini, Rory J. Tinker, Amy K. Robertson, Kimberly M. Ezell, Rizwan Hamid, Joy D. Cogan, John A. Phillips III   +9 more
wiley   +1 more source

Effects of stress and relaxation on central pain modulation in chronic whiplash and fibromyalgia patients compared to healthy controls [PDF]

, 2016
Background: Compelling evidence has demonstrated that impaired central pain modulation contributes to persistent pain in patients with chronic whiplash associated disorders (WAD) and fibromyalgia (FM).
Cagnie, Barbara, Coppieters, Iris, Danneels, Lieven, De Pauw, Robby, Meeus, Mira, Nijs, Jo, Van Oosterwijck, Jessica   +6 more
core  

Anosmia and Ageusia as the Only Indicators of Coronavirus Disease 2019 (COVID-19) [PDF]

, 2020
The patient is a 60-year-old woman with a history of vertigo and seasonal allergies who presented to the hospital with the chief complaint of headache. Radiological findings were negative for intracranial abnormalities. The headache was due to trigeminal
Abdollahi, Shahrzad, Nace, Travis C, Shan, Khine S, Zhang, Qian   +3 more
core   +1 more source

Dupilumab Beyond the Airway: Decreased Morbidity in a Real‐World Analysis

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Post hoc analyses of clinical trials have characterized dupilumab's adverse effects, yet the real‐world impact in chronic rhinosinusitis with nasal polyps (CRSwNP) and asthma is not well described. This study aims to characterize the risks of lymphoma, cardiovascular events, eosinophilia, joint pain, inflammatory arthritis, and ...
Emma J. Anisman, Spencer Short, Emma Tam, Benjamin F. Bitner, Abdulghafoor Alani, Marc Rosen, Mindy Rabinowitz, Damaris Pena Evertz, Elina Toskala, Gurston G. Nyquist   +9 more
wiley   +1 more source

52-week efficacy and safety of telbivudine with conditional tenofovir intensification at week 24 in HBeAg-positive chronic Hepatitis B [PDF]

, 2013
Background and Aims: The Roadmap concept is a therapeutic framework in chronic hepatitis B for the intensification of nucleoside analogue monotherapy based on early virologic response.
Aldo Trylesinski, AS Levey, AS Lok, BJ McMahon, CJ Chen, CL Lai, DJ Tenney, DJ Tenney, DW Cockcroft, EB Keeffe, Eduardo Fassio, Fernando Bessone, H Izzedine, H Mommeja-Marin, H Yang, Henry L. Y. Chan, HL Chan, Hugo Cheinquer, Javier R. Lama, JD Jia, Jorge Daruich, KL Andersson, Liver European Association For The Study Of The, MF Yuen, MF Yuen, Mário G. Pessôa, N Leung, P Marcellin, Piyawat Komolmit, Rashidkhan Pathan, RD Cooper, RG Gish, S Mauss, S Zeuzem, Stefan Zeuzem, Suzane K. Ono, Tawesak Tanwandee, Teerha Piratvisuth, Wattana Sukeepaisarnjaroen, YF Liaw, YF Liaw, Yuhong Dong   +41 more
core   +8 more sources

A model-driven approach for facilitating user-friendly design of complex event patterns [PDF]

, 2014
Complex Event Processing (CEP) is an emerging technology which allows us to efficiently process and correlate huge amounts of data in order to discover relevant or critical situations of interest (complex events) for a specific domain.
Abadi, Chaudhuri, Cugola, Dunkel, Edge, Etzion, Guadalupe Ortiz, Hansen, Inmaculada Medina-Bulo, Juan Boubeta-Puig, Longo, Luckham, Luckham, Romero, Stahl, Tsuchiya, Uhm, Vikhorev, Yao, Yuan   +19 more
core   +1 more source

Disease Remission: A Scoping Review With Thematic Analysis of the Scientific Literature With Implications for Chronic Rhinosinusitis

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Remission, a term used to describe a goal of treatment for some chronic diseases, has recently been proposed for chronic rhinosinusitis (CRS). However, it is unclear what remission means for CRS and why it should serve as a goal in the present‐day treatment of CRS.
Nikhil Parail, Lynn Warner, Stacey T. Gray, Claire Hopkins, Peter H. Hwang, Sarah K. Wise, Katie M. Phillips, Ahmad R. Sedaghat   +7 more
wiley   +1 more source

Prediction of Relapse and Glucocorticoid Dependence in Eosinophilic Granulomatosis With Polyangiitis: Findings From a Large European Cohort

Arthritis &Rheumatology, EarlyView.
Objective Eosinophilic granulomatosis with polyangiitis (EGPA) is a small vessel vasculitis characterized by eosinophilia, asthma, and ear, nose, and throat (ENT) involvement. Although glucocorticoids (GCs) are effective in controlling symptoms, relapses and GC dependence are common. The aim of this study was to develop predictive models for vasculitis
Matthias Papo, Pauline Martinot, Renato A. Sinico, Vítor Silvestre‐Teixeira, Nils Venhoff, Maria‐Letizia Urban, Michele Iudici, Juliane Mahrhold, Francesco Locatelli, Giulia Cassone, Franco Schiavon, Benjamin Seeliger, Thomas Neumann, Claudia Feder, Matthieu Groh, Chiara Marvisi, Maxime Samson, Thomas Barba, David Jayne, Arianna Troilo, Jens Thiel, Bernhard Hellmich, Sara Monti, Carlomaurizio Montecucco, Carlo Salvarani, Jean‐Emmanuel Kahn, Bernard Bonnotte, Cécile‐Audrey Durel, Xavier Puéchal, Luc Mouthon, Loïc Guillevin, Giacomo Emmi, Augusto Vaglio, Raphaël Porcher, Benjamin Terrier, on behalf of the French Vasculitis Study Group and the Eosinophilic Granulomatosis with Polyangiitis European Study Group   +35 more
wiley   +1 more source

Statin-associated muscle symptoms (SAMS) in primary prevention for cardiovascular disease in older adults:A protocol for a systematic review and meta-analysis of randomised controlled trials [PDF]

, 2017
IntroductionAlthough statins are commonly used for prevention of cardiovascular disease, there is limited evidence about statin-related adverse effects in older people. Statin-related adverse events (AEs), especially the statin-associated muscle symptoms
Albarqouni, Loai, Breslin, Monique, Curtis, Andrea J, Nelson, Mark, Zhou, Zhen   +4 more
core   +1 more source

A Rare RIPK3 Variant Enhances Necroptosis and Promotes Inflammation in a Still Disease–Like Autoinflammatory Syndrome

Arthritis &Rheumatology, EarlyView.
Objective Still disease represents a prototypical polygenic systemic autoinflammatory disease, characterized by recurrent systemic inflammation and dysregulation of innate immunity. Despite extensive clinical characterization, familial clustering Still disease remains unreported.
Longfang Chen, Qihua Dai, Yu Xiao, Jialin Dai, Mengyan Wang, Yuning Ma, Yujie Shen, Zhimo Xu, Jianfen Meng, Xia Chen, Da Yi, Yue Sun, Hui Shi, Honglei Liu, Xiaobing Cheng, Yutong Su, Junna Ye, Huihui Chi, Zhuochao Zhou, Tingting Liu, Jialin Teng, Chengde Yang, Jinchao Jia, Qiongyi Hu   +23 more
wiley   +1 more source