Results 81 to 90 of about 301,617 (312)

Biallelic PIGB Variants Cause Motor Neuropathy with Conduction Blocks and Peripheral Nerve Hyperexcitability

Annals of Neurology, EarlyView.
Objective Glycosylphosphatidylinositol (GPI)‐anchored proteins play critical roles in nervous system function. Pathogenic variants in genes involved in GPI‐anchor biosynthesis cause early‐onset multisystem disorders known as inherited GPI deficiencies. We describe a novel neuromuscular phenotype associated with PIGB deficiency.
Gorka Fernández‐Eulate, Romain Duval, Marina Konyukh, Alessandro Bertini, Ayse Candayan, Albena Jordanova, Theresa Brunet, Wolfgang Müller‐Felber, Helena F. Pernice, Katrin Hahn, Nadja Ehmke, Juliane Beuschlein, Bertrand Isidor, Benjamin Cogné, Yann Péréon, Annabelle Chaussenot, John Rendu, Aysylu Murtazina, Dmitrii Subbotin, Artem Borovikov, Andrey Marakhonov, Chiara Pisciotta, Paola Saveri, Daniele Cazzato, Lucie Lemeray, Bérengère Koehl, Jean‐Madeleine de Sainte‐Agathe, Stefano Facchini, Ilaria Quartesan, Andrea Cortese, Yesim Parman, Arman Cakar, Davide Pareyson, Slim Azouzi, Tanya Stojkovic   +34 more
wiley   +1 more source

Leber's hereditary optic neuropathy: case report and literature review

São Paulo Medical Journal
CONTEXT: Leber's hereditary optic neuropathy is an important cause of progressive painless visual loss among young male patients. OBJECTIVE: To report on a case of a young patient with a clinical and neurophysiological condition suggestive of Leber's ...
Hélio Afonso Ghizoni Teive, André Ribeiro Troiano, Salmo Raskin, Lineu César Werneck   +3 more
doaj   +1 more source

Isolated Unilateral Infiltrative Optic Neuropathy in a Patient with Breast Cancer

, 2019
Metastasis to the optic nerve is very rare. We report a case of metastatic breast cancer to the optic nerve head without the involvement of other ocular or orbital structures.
Kaveh Abri Aghdam, Mostafa Soltan Sanjari, Amin Zand   +2 more
core   +1 more source

Deucravacitinib in Active Psoriatic Arthritis: Efficacy and Safety Up to 52 Weeks From the Randomized, Double‐Blind, Phase 3 POETYK PsA‐2 Trial

Arthritis &Rheumatology, EarlyView.
Objective To assess the efficacy and safety of deucravacitinib, an oral, selective tyrosine kinase 2 inhibitor, in patients with psoriatic arthritis (PsA) who were naive to biologic disease‐modifying antirheumatic drugs or received tumor necrosis factor inhibitors. Methods In the 52‐week, double‐blind, placebo‐controlled, phase 3 Program for Evaluation
Philip J. Mease, Vinod Chandran, April W. Armstrong, Ricardo Blanco, Alexis Ogdie, Evan L. Siegel, Alice B. Gottlieb, Xiaofeng Zeng, Diamant Thaçi, Mitsumasa Kishimoto, Hendrik Schulze‐Koops, Alan Kivitz, Eva Dokoupilová, Akimichi Morita, Eric M. Ruderman, Michael Plewinski, Kejia Wang, Caroline Sardinas, Eleni Vritzali, John Vaile, Atul Deodhar   +20 more
wiley   +1 more source

Selective diet induced nutritional optic neuropathy in developmentally normal children

American Journal of Ophthalmology Case Reports
Purpose: Nutritional deficiencies in developed countries are a rare but potentially intervenable cause of optic neuropathy in pediatric populations.
Rhea W. Teng, Gena Heidary, Ryan A. Gise
doaj   +1 more source

Outcomes of Tapering Biologic and Targeted Synthetic DMARDs in Rheumatoid Arthritis: A Multicenter Randomized Non‐Inferiority Trial

Arthritis &Rheumatology, Accepted Article.
Objective Evidence supporting tapering of biologic or targeted synthetic disease‐modifying antirheumatic drugs (b/tsDMARDs) in rheumatoid arthritis (RA) patients with sustained low disease activity (LDA) remains limited. We evaluated the efficacy and safety of a structured b/tsDMARD tapering strategy in patients with RA who had achieved sustained LDA ...
Dong‐Jin Park, Sung‐Eun Choi, Ji‐Hyoun Kang, Jung‐Yoon Choe, Hye‐Soon Lee, So‐Young Bang, Yun‐Hong Cheon, Sang‐Il Lee, Mingyo Kim, Yoon‐Kyoung Sung, Soo‐Kyung Cho, Jae Hyun Jung, Sung Hae Chang, Sung Won Lee, Yeon‐Ah Lee, Seung‐Geun Lee, Hyun‐Sook Kim, Seung‐Ki Kwok, Seung‐Cheol Shim, Shin‐Seok Lee   +19 more
wiley   +1 more source

Risk factors for optic neuropathy after clipping for paraclinoid aneurysms: A retrospective study

World Neurosurgery: X
Background: Anterior clinoidectomy (AC) is an important technique for the management of aneurysms in the paraclinoid region. Conventional drill-based AC technique (Drill AC) can cause optic neuropathy. Therefore, starting in July 2017, we transitioned to
Junya Iwama, Hiroki Sato, Seiji Kuribara, Makoto Mizushima, Takumi Hirabayashi, Ryosuke Tsuchiya, Takafumi Shindo, Keisuke Ohnaka, Takanori Hayakawa, Katsumi Takizawa   +9 more
doaj   +1 more source

Optic neuropathy in craniosynostosis

Frontiers in Ophthalmology
Craniosynostosis (CS) or the premature fusion of one or more cranial sutures in utero, or during the first years of life, can present in isolation or as a multisystem clinical disorder with a particular impact on visual function. Among ophthalmic complications, optic neuropathy is a significant cause of irreversible vision loss in these patients ...
Tais Estrela, Linda R. Dagi
openaire   +3 more sources

Moderatore di Sessione Magistrale. “Optic neuropathy: visual rehabilitation, neural stimulation, neuroenhancement”.

, 2016
Moderatore nella sessione: “Optic neuropathy: visual rehabilitation, neural stimulation ...
NEBBIOSO, Marcella
core  

Anterior Ischemic Optic Neuropathy Associated with Pegylated Interferon Therapy for Chronic Hepatitis C

, 2011
Purpose: To report a case of anterior ischemic optic neuropathy (AION) associated with the combined therapy of pegylated interferon alpha (PEG- IFN) and ribavirin. Methods: Case report.
WEI, YI-HSUAN;WANG, I-HUA;WOUNG, LIN-CHUNG;JOU, JIEH-REN, 魏以宣;汪宜樺;翁林仲;周介仁   +1 more
core   +1 more source