Results 81 to 90 of about 159,027 (267)

The EXPLAIN Study: Exploring Arthrogryposis Multiplex Congenita in Adults in Norway — A Description of Demographic, Medical, and Neurological Findings

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis Multiplex Congenita (AMC) encompasses several hundred conditions with diverse genetic, pathophysiological, and clinical origins. The overarching EXPLAIN study explores underlying causes and implications of AMC and represents the largest clinical cohort of adults with AMC reported to date.
My Vuong Hermansen, Kristin Ørstavik, Unni Steen, Mathias Toft, Cathrine Brunborg, Lena Lande Wekre   +5 more
wiley   +1 more source

Partial hearing recovery after cochlear nerve surface transplantation of hair follicle‐derived neural crest stem cells in neural hearing loss rat

Animal Models and Experimental Medicine, EarlyView.
This study comprises three experimental parts. Part 1. Time‐course of ouabain‐induced hearing loss. Rats received ouabain (10 mM) via round window application. ABR/DPOAE tests and histological analyses were performed at 2, 7, and 30 days post‐treatment to characterize SGN and glial cell degeneration. Part 2.
Huidong Chen, Yunlong Zhang, Huanzhi Wan, Bingqian Yang, Tianyi Liu, Jie Wang, Hua Liao, Yuanyuan Zhang, Zhijian Zhang, Qingquan Hua   +9 more
wiley   +1 more source

Proportion of Peripheral Neuropathy in Newly Diagnosed Rheumatoid Arthritis - A Single Centre Retrospective Observational Study

JK Science, 2022
Background: Rheumatoid arthritis (RA) patients are more prone to develop neurological dysfunction; thus, it is important to recognize peripheral neuropathy in them.
George Thomas, Sebastian Geethu Maria, Ghosh Udas, Roy Biman Kanti, Bansal Apurva, Roy Abontika, Surendran Sandeep, C Rehana, Marwaha Vishal Colonel   +8 more
doaj  

Use of Machine Learning to Identify Markers of Risk for Fragile X‐Associated Tremor/Ataxia Syndrome: A Preliminary Analysis

Annals of Neurology, EarlyView.
Objective The objective of this study was to examine whether machine learning has the capacity to prospectively identify and predict the emergence of Fragile X‐associated tremor/ataxia syndrome (FXTAS) among male fragile X premutation carriers (PCs). Methods We explored neuropsychological and motor evaluation metrics, brain magnetic resonance imaging ...
Chitrabhanu Gupta, Angeela Poudel, Jun Yi Wang, Randi Hagerman, Glenda Espinal, Jessica Famula, Andrea Schneider, Flora Tassone, Susan M. Rivera, Chen‐Nee Chuah, David Hessl   +10 more
wiley   +1 more source

Cell metabolism pathways involved in the pathophysiological changes of diabetic peripheral neuropathy

Neural Regeneration Research
[INLINE:1] Diabetic peripheral neuropathy is a common complication of diabetes mellitus. Elucidating the pathophysiological metabolic mechanism impels the generation of ideal therapies.
Yaowei Lv, Xiangyun Yao, Xiao Li, Yuanming Ouyang, Cunyi Fan, Yun Qian   +5 more
doaj   +1 more source

Monoallelic POLR3A Variants Cause Early‐Onset Peripheral Neuropathy

Annals of Neurology, EarlyView.
Objective Biallelic variants in genes encoding the RNA polymerase III complex (Pol III) cause a spectrum of neurological disorders primarily affecting the central nervous system. Monoallelic variants have been reported in the POLR3B subunit only, associated with neurodevelopmental disorder, epilepsy, and peripheral neuropathy.
Luiza L. P. Ramos, Jevin M. Parmar, Robin Wijngaard, Bianca R. Grosz, Tamas Lazar, Ligia Mateiu, Steve Vucic, Kishore R. Kumar, Dennis Yeow, Laura I. Rudaks, Lonneke de Boer, Annemarie de Vreugd, David A. Koolen, Thatjana Gardeitchik, Anita Cairns, Krishnan Iyengar, Fernando Kok, Fernanda Barbosa Figueiredo, Alzira Alves de Siqueira Carvalho, Luiz S. Mageste Barbosa, Rodrigo Rezende Arantes, Tyler Rehbein, Jordan E. Bontrager, Elizabeth P. Wood, Janet E. Sowden, Gavin Monahan, Meutia Kumaheri, Ivy Cuijt, Melina Ellis, Gonzalo Perez‐Siles, Elyshia McNamara, Ronald van Beek, Celine B. Meijers, Ivaylo Tournev, Stephan Zuchner, Shoshana J. Wodak, Clara D. M. van Karnebeek, Nigel Laing, Liana N. Semcesen, David A. Stroud, David N. Herrmann, Velina Guergueltcheva, Marina L. Kennerson, Machteld M. Oud, Gianina Ravenscroft, Ayse Candayan, Albena Jordanova   +46 more
wiley   +1 more source

Signaling pathways and gene co-expression modules associated with cytoskeleton and axon morphology in breast cancer survivors with chronic paclitaxel-induced peripheral neuropathy

Molecular Pain, 2019
Background The major dose-limiting toxicity of paclitaxel, one of the most commonly used drugs to treat breast cancer, is peripheral neuropathy (paclitaxel-induced peripheral neuropathy).
Kord M Kober, Mark Schumacher, Yvette P Conley, Kimberly Topp, Melissa Mazor, Marilynn J Hammer, Steven M Paul, Jon D Levine, Christine Miaskowski   +8 more
doaj   +1 more source

Gephyrin Neurological Autoimmunity

Annals of Neurology, EarlyView.
Gephyrin is a postsynaptic scaffold protein essential for inhibitory neurotransmission. Gephyrin‐immunoglobulin G (IgG) was reported, decades ago, in a single case of paraneoplastic stiff‐person‐like syndrome, but its broader clinical relevance remains unknown.
Maria Chiara Pantuliano, Friederike A. Arlt, Naomi Arenson, Irena Dujmovic Basuroski, Divyanshu Dubey, Connie E. Lesnick, John R. Mills, Sean J. Pittock, Anastasia Zekeridou, Michael A. Lane, Andrew McKeon   +10 more
wiley   +1 more source

Endoscopic Proximal Hamstring Repairs Remain Safe and Beneficial With High Patient Satisfaction at a Minimum of 6‐Year Follow‐Up

Arthroscopy, EarlyView.
Purpose To evaluate midterm outcomes of endoscopic proximal hamstring repair in a previously established cohort. Methods A retrospective study design was used for a midterm (minimum 6 years) follow‐up time. Patients completed the questionnaires over the phone or electronically on REDCap after consent. The questionnaires included the modified Harris Hip
Shannon N. Greenwood, Temitope Adebayo, Emily K. Reinke, Amanda N. Fletcher, Brian D. Lewis, Elizabeth J. Scott, Richard Charles Mather   +6 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