Results 71 to 80 of about 41,399 (306)

Pyridostigmine Treatment for Pediatric Axonal Guillain–Barré Syndrome

Muscle &Nerve, EarlyView.
ABSTRACT Introduction/Aims Direct involvement of the neuromuscular junction (NMJ) in the inflammatory process of Guillain–Barré syndrome (GBS) has been described. Despite this, the NMJ very rarely serves as a target for direct medical intervention in GBS.
E. Zohar‐Dayan, J. Landa, S. Barak, B. Ben‐Zeev   +3 more
wiley   +1 more source

Pituitary apoplexy: re-evaluation of risk factors for bleeding into pituitary adenomas and impact on outcome [PDF]

, 2011
Objective: To assess frequency, symptoms and outcome of pituitary apoplexy (PA) among pituitary adenoma patients, to gain better insight into risk factors for bleeding into pituitary adenoma, and to estimate the sequelae of PA by means of a matched ...
Ayuk, Bao, Bills, Biousse, Bjerre, Bonicki, Cardoso, Christoph Schmid, da Motta, Diane L Möller-Goede, Dubuisson, Jeffcoate, Klara Landau, Liu, Lohrer, McCabe, McNEMAR, Michael Brändle, Nielsen, Nomikos, Onesti, Randeva, Rene L Bernays, Semple, Wakai, Zayour   +25 more
core   +1 more source

Mitochondrial DNA Depletion Syndrome 1 (MTDPS1)—A Novel Cause of Premature Ovarian Insufficiency

Clinical Genetics, EarlyView.
We describe a woman with MNGIE due to a novel homozygous TYMP nonsense variant and propose MNGIE as the cause of her premature ovarian insufficiency—a rarely reported association—highlighting the need to consider mitochondrial disease in unexplained POI, especially in atypical, consanguineous presentations. ABSTRACT Mitochondrial DNA depletion syndrome
Michael Matheou, Helen Turner, Deborah Shears, Fredrik Karpe   +3 more
wiley   +1 more source

Mitochondrial dynamics–fusion, fission, movement, and mitophagy–in neurodegenerative diseases [PDF]

, 2009
Neurons are metabolically active cells with high energy demands at locations distant from the cell body. As a result, these cells are particularly dependent on mitochondrial function, as reflected by the observation that diseases of mitochondrial ...
Alexander, Baloyannis, Banchs, Bossy-Wetzel, Brockmann, Cassidy-Stone, Chang, Chen, Cho, Clark, D. C. Chan, de Brito, Delettre, Dodson, Exner, Fransson, Frezza, Gispert, H. Chen, Hollenbeck, Kim, Kim, Li, Liot, Lustbader, Macaskill, Meeusen, Milone, Mortiboys, Okamoto, Orr, Park, Parone, Popp, Reis, Suen, Ten Dijke, Trushina, Wang, Waterham, Wood-Kaczmar, Zuchner, Z  chner   +42 more
core   +3 more sources

De Novo Heterozygous ZFX Frameshift Variant in a Female With an X‐Linked Neurodevelopmental Disorder

American Journal of Medical Genetics Part A, Volume 200, Issue 2, Page 521-530, February 2026.
ABSTRACT Germline ZFX variants are associated with an X‐linked neurodevelopmental disorder, with 14 males and 16 females reported to date. We describe a 20‐year‐old female with a heterozygous ZFX frameshift variant, p.(Met666Valfs*2), identified by genome sequencing, previously reported in an affected male.
Iftekhar A. Showpnil, Allison Daley, Emily R. Sites, Shayne M. Plourde, Jesse M. Hunter, Dennis W. Bartholomew, April N. Lehman, Daniel C. Koboldt, Rolf W. Stottmann   +8 more
wiley   +1 more source

Management of Noncatastrophic Internal Carotid Artery Injury in Endoscopic Skull Base Surgery. [PDF]

, 2019
Arterial injuries are the most feared complication of endoscopic skull base surgery. During resection of the middle fossa component of a large ventral skull base chondrosarcoma, arterial bleeding was encountered near the right internal carotid artery ...
El-Sayed, Ivan H, Safaee, Michael, Theodosopoulos, Philip V, Young, Jacob S   +3 more
core  

Peripheral neuropathy predicts nuclear gene defect in patients with mitochondrial ophthalmoplegia

Brain : a journal of neurology, 2014
Mitochondrial ophthalmoplegia is a genetically heterogeneous disorder. Horga et al. investigate whether peripheral neuropathy can predict the underlying genetic defect in patients with progressive external ophthalmoplegia.
A. Horga, R. Pitceathly, J. Blake, C. Woodward, P. Zapater, C. Fratter, E. Mudanohwo, G. Plant, H. Houlden, M. Sweeney, M. Hanna, M. Reilly   +11 more
semanticscholar   +1 more source

Association between Mediterranean Diet and Development of Multiple Sclerosis: A Systematic Review and Meta‐Analysis

Brain and Behavior, Volume 16, Issue 2, February 2026.
The overall body of evidence does not provide strong support for a preventive role of the Mediterranean diet in multiple sclerosis (components of the graph are retrieved from Servier Medical Art by Servier, licensed under a Creative Commons Attribution 3.0, Unported (CC BY 3.0)).
Fatemeh Shakouri, Morteza Lotfi, Ali Rostami, Mahnaz Talebi, Sarvin Sanaie, Amirreza Naseri   +5 more
wiley   +1 more source

Painful ophthalmoplegia with normal cranial imaging

BMC Neurology, 2014
BackgroundPainful ophthalmoplegia with normal cranial imaging is rare and confined to limited etiologies. In this study, we aimed to elucidate these causes by evaluating clinical presentations and treatment responses.MethodsCases of painful ...
Chih-Hsien Hung, Kuo-Hsuan Chang, C. Chu, M. Liao, Hong‐Shiu Chang, R. Lyu, Yi-Ming Wu, Yao-Liang Chen, Chiou-Lian Lai, Hsiao-Jung Tseng, L. Ro   +10 more
semanticscholar   +1 more source

Exploring Pembrolizumab‐Induced IM3OS in a Patient With Bladder Cancer

Pharmacology Research &Perspectives, Volume 14, Issue 1, February 2026.
ABSTRACT Pembrolizumab, an immune checkpoint inhibitor (ICI), has transformed cancer treatment across various malignancies, including metastatic urothelial cancer. As the use of pembrolizumab becomes increasingly widespread, understanding its potential adverse effects is essential.
Ching‐Cheng Chan, Ming‐Jen Lee, Jian Su, Jen‐Jen Su   +3 more
wiley   +1 more source