Results 61 to 70 of about 39,959 (306)

A clinical case series investigating the effectiveness of an exercise intervention in chronic inflammatory demyelinating polyneuropathy (CIDP) [PDF]

, 2018
Background: Despite clinical intervention, people with chronic inflammatory demyelinating polyneuropathy (CIDP) experience difficulties in gait and balance on a daily basis.
Berg, Berg, Blum, Brusse, Bussmann, Campbell, Chong, Conradsson, Dyck, Dyck, EuroQol Group, Fisher, Garssen, Graham, Hughes, Hughes, Khan, Krupp, Laughlin, Perera, Richardson, Van den Bergh, Van Doom, Walton, Wang, White, Wirz   +26 more
core   +2 more sources

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

Systemic inflammatory markers in patients with polyneuropathies

Frontiers in Immunology, 2023
IntroductionIn patients with peripheral neuropathies (PNP), neuropathic pain is present in 50% of the cases, independent of the etiology. The pathophysiology of pain is poorly understood, and inflammatory processes have been found to be involved in neuro-
Patricia García-Fernández, Klemens Höfflin, Antonia Rausch, Katharina Strommer, Astrid Neumann, Nadine Cebulla, Ann-Kristin Reinhold, Heike Rittner, Nurcan Üçeyler, Claudia Sommer   +9 more
doaj   +1 more source

High Prevalence of SOD1 Pathogenic Variants in the UK Biobank: Implications for Early Intervention in Amyotrophic Lateral Sclerosis

Annals of Neurology, EarlyView.
Objective SOD1 is the second most frequently mutated gene in European patients with amyotrophic lateral sclerosis (ALS). Given the recent authorization of SOD1‐targeted antisense oligonucleotides for SOD1‐ALS, prompt screening for SOD1 mutations in patients with ALS patients is highly recommended.
Delia Gagliardi, Chiara Villella, Matteo Zanovello, Virginia Iacobelli, Stefania Corti, Giacomo Pietro Comi, Pietro Fratta, Henry Houlden, Arianna Tucci, Dario Ronchi   +9 more
wiley   +1 more source

Hereditary Neuropathy with Liability to Pressure Palsy Presenting with Hand Drop in a Young Child [PDF]

, 2012
Hereditary neuropathy with liability to pressure palsy (HNPP) results from the deletion of the PMP22 gene in chromosome 17p11.2. Clinically, it presents with painless pressure palsies, typically in the 2nd and 3rd decades of life, being a rare entity in
Dias, AI, Raposo, A, Soares, MR, Sobreira, I, Soudo, AP, Sousa, C   +5 more
core   +2 more sources

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

Safety and Efficacy of 10 kHz Spinal Cord Stimulation for the Treatment of Refractory Chronic Migraine: A Prospective Long‐Term Open‐Label Study

Neuromodulation: Technology at the Neural Interface, EarlyView., 2021
Abstract Background Refractory chronic migraine (rCM) is a highly disabling condition for which novel safe and effective treatments are needed. Safety and long‐term efficacy of paresthesia‐free high cervical 10 kHz spinal cord stimulation (SCS) were here prospectively evaluated for the treatment of rCM.
Adnan Al‐Kaisy, Stefano Palmisani, Roy Carganillo, Samuel Wesley, David Pang, Anand Rotte, Angela Santos, Giorgio Lambru   +7 more
wiley   +1 more source

Neuromuscular diseases in elderly [PDF]

Medicinski Podmladak
Introduction: Even though neuromuscular diseases are not the first association in the elderly, the results of previous epidemiological studies record an increase in the incidence of acquired immune-mediated neuropathies, amyotrophic lateral sclerosis ...
Perić Stojan, Basta Ivana
doaj   +1 more source

Pharmacotherapy of distal polyneuropathies in vibration disease

Лечащий Врач, 2022
The article is devoted to an urgent medical and social problem - vibration disease, which occupies an important place in the clinic of occupational pathology. Syndromic classification of vibrational disease of the last revision is given.
E. Yu. Radoutskaya, Ya. I. Onishchuk, I. I. Novikova   +2 more
doaj   +1 more source

Immunophenotypic characteristics of plasma cells in POEMS syndrome

Cytometry Part B: Clinical Cytometry, EarlyView.
Abstract To analyze the immunophenotypic characteristics of plasma cells in patients with polyneuropathy, organomegaly, endocrinopathy, myeloma protein, and skin changes (POEMS) syndrome. This retrospective study included patients with POEMS syndrome hospitalized in the Department of Hematology, Huashan Hospital, from September 2017 to August 2025 ...
Zhenhua Wang, Tianling Ding, Beiqian Wu, Qiang Niu, Leyao Gu, Yan Yuan, Ping Zhu   +6 more
wiley   +1 more source