Results 131 to 140 of about 1,474,438 (314)

Oral Corticosteroid and Nonsteroidal Immunosuppressant Therapy Use in Patients with Myasthenia Gravis Receiving Ravulizumab, Eculizumab, or Efgartigimod in the USA

Neurology and Therapy
Introduction Oral corticosteroids (OCSs) and nonsteroidal immunosuppressant therapies (NSISTs) remain widely used for the clinical management of patients with generalized myasthenia gravis (gMG), despite well-documented risks.
Francesco Saccà, Justin Lee, Karen S. Yee, Nicholas J. Silvestri, Guido Sabatella   +4 more
doaj   +1 more source

Respiratory failure: A rare complication of chronic kidney disease mineral and bone disorder

, 2019
Background: Disordered metabolism of bone and minerals is a problem frequently encountered in patients with chronic kidney disease. Early biochemical changes include altered calcium and phosphate balance, while advanced disease produces reduced bone ...
Yaxley, J, Scott, T
core   +1 more source

Super‐Refractory Status Epilepticus (SRSE) in a Patient With Compound Heterozygous OPA1 Variants: Case Report and Literature Review

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Super‐Refractory Status Epilepticus (SRSE) is a rare, life‐threatening neurological emergency with unclear etiology in many cases. Mitochondrial dysfunction, often due to disease‐causing genetic variants, is increasingly recognized as a cause, with each gene producing distinct pathophysiological mechanisms.
Pouria Mohammadi, Lara Basovic, Christopher Michael McGraw   +2 more
wiley   +1 more source

CCDC115-CDG: A new rare and misleading inherited cause of liver disease

, 2018
International audienceCongenital disorders of glycosylation (CDG) linked to defects in Golgi apparatus homeostasis constitute an increasing part of these rare inherited diseases.
Caussé, Elizabeth, Janick Selves, de Lonlay, Pascale, Marlène Rio, Girard, Muriel, Ruel, Coralie, Debray, Dominique, Arnaud Bruneel, Séta, Nathalie, Woimant, France, Laure Bridoux-Henno, Bridoux-Henno, Laure, Alric, Laurent, Bruneel, Arnaud, François Fenaille, Aurélia Poujois, Pascale de Lonlay, Sandrine Vuillaumier-Barrot, Laurent Alric, Nathalie Seta, Selves, Janick, Fenaille, François, Muriel Girard, Cholet, Sophie, Coralie Ruel, France Woimant, Dupré, Thierry, Florence Lacaille, Dominique Debray, Thierry Dupré, Rio, Marlène, Vuillaumier-Barrot, Sandrine, Lacaille, Florence, Monique Fabre, Elizabeth Caussé, Sophie Cholet, Fabre, Monique, Poujois, Aurélia   +37 more
core   +1 more source

Spinal Cord Infarction Versus Idiopathic Transverse Myelitis: Clinical, Radiological, and Functional Insights From a Retrospective Cohort Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Introduction Spinal cord infarction (SCI) is a rare but devastating myelopathy, characterized by a high disability rate and an unfavorable prognosis. It has often been underdiagnosed and misdiagnosed as idiopathic transverse myelitis (ITM). This study aimed to describe the clinical features, radiological biomarkers, treatments, and functional ...
Zeqiang Ji, Jianlong Zhang, Yiming Shi, Shiyu Shan, Yang Du, Guangshuo Li, Ying Jin, Yani Zhang, Chuanying Wang, Yijun Lin, Yuhao Guo, Decai Tian, Xingquan Zhao, Tian Song   +13 more
wiley   +1 more source

Characterization of the bispecific VHH antibody tarperprumig (ALXN1820) specific for properdin and designed for low-volume administration

mAbs
The bispecific antibody tarperprumig (ALXN1820) was developed as a treatment option for diseases involving dysregulated complement alternative pathway (AP) activity that could be administered in small volumes, either subcutaneously or intravenously ...
Paul Tamburini, Dennis Vestergaard Pedersen, Denise Devore, Josh Cone, Rekha Patel, Todd Hunter, Fang Sun, Gregers Rom Andersen, Jeffrey Hunter   +8 more
doaj   +1 more source

Clinical Spectrum and Outcomes of SOX1 Antibody‐Associated Paraneoplastic Neurological Syndromes: A Chinese Cohort Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background SOX1 antibody‐positive paraneoplastic neurological syndromes (PNS) exhibit significant population‐specific clinical heterogeneity. While Western cohorts predominantly manifest Lambert‐Eaton myasthenic syndrome (65%–80%), comprehensive clinical characterization and treatment response data in Asian populations remain critically ...
Jin‐Long Ye, Zu‐Ying Kuang, Bo Li, Meng‐Qiu Pan, Li‐Hua Zhou, Yang‐Yang Dai, Si‐Fen Xie, Xian‐Guang Lin, Ye‐Peng Hu, Li‐Hong Jiang, Zhan‐Hang Wang, Wei‐Jing Zhang   +11 more
wiley   +1 more source

The European Union Committee of Experts on Rare Diseases: three productive years at the service of the rare disease community.

, 2014
International audienceThe European Union Committee of Experts on Rare Diseases was entrusted with aiding the European Commission in a number of tasks, ranging from the monitoring of initiatives, to recommending improvements and actions to be pursued in ...
Charlotte Rodwell, Ségolène Aymé, Rodwell, Charlotte, Aymé, Ségolène   +3 more
core   +1 more source

Remote Assessment of Ataxia Severity in SCA3 Across Multiple Centers and Time Points

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Spinocerebellar ataxia type 3 (SCA3) is a genetically defined ataxia. The Scale for Assessment and Rating of Ataxia (SARA) is a clinician‐reported outcome that measures ataxia severity at a single time point. In its standard application, SARA fails to capture short‐term fluctuations, limiting its sensitivity in trials.
Marcus Grobe‐Einsler, Vivian Maas, Arian Taheri Amin, Jennifer Faber, Tamara Schaprian, Katharina Hill, Matthis Synofzik, Lisa H. Graf, Heike Jacobi, Manuela Lima, Ana F. Ferreira, Bart P. van de Warrenburg, Ilse H. J. Willemse, Dagmar Timmann, Andreas Thieme, Paola Giunti, Hector Garcia‐Moreno, Magda M. Santana, Jeannette Hübener‐Schmid, Elin H. Davies, Thomas Klockgether   +20 more
wiley   +1 more source

Brainstem and Cerebellar Volume Loss and Associated Clinical Features in Progressive Supranuclear Palsy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Introduction Progressive Supranuclear Palsy (PSP) is a neurodegenerative ‘tauopathy’ with predominating pathology in the basal ganglia and midbrain. Caudal tau spread frequently implicates the cerebellum; however, the pattern of atrophy remains equivocal.
Chloe Spiegel, Timothy P. Siejka, Cassandra Marotta, Josh J. Y. Lee, Kelly Bertram, Terence J. O'Brien, Meng Law, Lucy Vivash, Ian H. Harding   +8 more
wiley   +1 more source