Results 71 to 80 of about 627,005 (317)

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

Excessive poly(ADP)-ribosylation in the inflamed mucosa of pediatric celiac disease points to a novel inflammatory mechanism and therapeutic target

Molecular and Cellular Pediatrics
Background Celiac disease (CD) is an immune-mediated enteropathy triggered by gluten exposure in genetically susceptible individuals, characterized by chronic intestinal inflammation, epithelial damage, and immune dysregulation.
Tala M. Haddadin, Tarek M. Masannat, Irshad A. Sheikh, Belinda Sun, Connor P. Kelley, Fayez K. Ghishan, Pawel R. Kiela   +6 more
doaj   +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

The CYP2D6 animal model: how to induce autoimmune hepatitis in mice

, 2012
Autoimmune hepatitis is a rare but life threatening autoimmune disease of the liver of unknown etiology1,2. In the past many attempts have been made to generate an animal model that reflects the characteristics of the human disease 3-5.
Christen, Urs, Hintermann, Edith, Ehser, Janine   +2 more
core   +1 more source

The rs1990760 polymorphism within the IFIH 1 locus is not associated with Graves' disease, Hashimoto's thyroiditis and Addison's disease [PDF]

, 2009
Background: Three genes have been confirmed as major joint susceptibility genes for endocrine autoimmune disease:human leukocyte antigen class II, cytotoxic T-lymphocyte antigen 4 and protein tyrosine phosphatase non-receptor type 22.
Reisch, Nicole, Badenhoop Klaus, Elizabeth Ramos Lopez, Stefanie Hahner, H. Willemberg, Segni, Maria, Kahles Heinrich, Inka Robbers, Ramos-Lopez, Elizabeth, Hahner, Stefanie, Heinrich Kahles, Willenberg, Holger, Robbers Inka, Seidl, Christian, Marissa Penna Martinez, Christian Seidl, Willenberg, Holger S., Reisch Nicole, Kahles, Heinrich, Penna-Martinez Marissa, Klaus Badenhoop, Penna Martinez, Marissa, Seidl Christian, Badenhoop, Klaus, Robbers, Inka, Penna-Martinez, Marissa, Ramos-Lopez Elizabeth, Hahner Stefanie, Segni Maria, Willenberg Holger, Nicole Reisch   +30 more
core   +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

Parmacological aspect of autoimmune diseases

, 2023
This thesis deals with the available treatments for autoimmune diseases and presents the most recent developments in this field. It discussed are the challenges presented to clinicians when choosing the optimal treatment for the individual patient ...
Carmon, Avia
core  

Air Pollution and the Risk and Progression of Multiple Sclerosis: A Systematic Review and Meta‐Analysis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Purpose Air pollution has been linked to several neurological conditions, including stroke and neurodegenerative diseases. Evidence regarding its association with multiple sclerosis (MS) remains conflicting, limited by small sample sizes. Methods PubMed, Embase, Scopus, and Cochrane controlled register of trials (CENTRAL) were searched on ...
Ahmad A. Toubasi, Thuraya N. Al‐Sayegh
wiley   +1 more source

Fas/Apo1 mutations and autoimmune lymphoproliferative syndrome in a patient with type 2 autoimmune hepatitis.

, 1997
Inherited mutations of the Fas/Apo1/CD95 gene, a cell-surface receptor involved in cell death signaling and in the control of self-reactivity, characterize the recently identified autoimmune lymphoproliferative syndromes. A patient with type 2 autoimmune
NISINI R, VAJRO P, ALMERIGHI C, IANNI A, COSTANZO A, NATOLI G, IORIO, RAFFAELE, LEVRERO M. FASAPO MUTATIONS AND AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME IN A. PATIENT WITH TYPE AUTOIMMUNE H.E.P.A.T.I.T.I.S. GASTROENTEROLOGY, VEGNENTE A, BALSANO C, ACCAPEZZATO D, PENSATI L   +11 more
core   +1 more source

FDG‐PET Associations With Disease Severity and Outcomes in NMDA‐Receptor IgG Autoimmune Encephalitis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Patients with N‐methyl‐D‐aspartate (NMDA) receptor‐immunoglobulin G (IgG) autoimmune encephalitis (NMDAR‐IgG AE) demonstrate occipital lobe hypometabolism on baseline brain fluorodeoxyglucose‐positron emission tomography (bFDG‐PET).
Jonathan K. Lee, Jeffrey Lambe, Scott Johnson, Akua Abrah, Jennifer Bullen, Jeffrey A. Cohen, Tatchaporn Ongphichetmetha, Amy Kunchok   +7 more
wiley   +1 more source