Results 31 to 40 of about 194,130 (263)

Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina, Anna Marcé‐Grau, Barbara Masotto, Marta Codina, Lamia BenJemaa, Yasmina Elaribi, Mónica Martinez‐Gallo, Roger Colobran, Angel Sanchez‐Montañez, Irene Valenzuela, Yoshiko Murakami, Alfons Macaya   +11 more
wiley   +1 more source

Sex Representation in US Stroke Clinical Trials: A Decade of Trends and Challenges

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Stroke remains a major cause of disability and mortality in the US, with significant sex‐based disparities, and females remain underrepresented in stroke clinical trials. We aimed to examine sex representation in US‐based stroke clinical trials, identify trial characteristics associated with higher female enrollment (≥ 50%), and ...
Chaitali Dagli, Mudasir Andrabi, Tova Cohen, Pranali G. Patel, Tapasya Katta, Chen Lin   +5 more
wiley   +1 more source

Culicoides Midge Abundance across Years: Modeling Inter-Annual Variation for an Avian Feeder and a Candidate Vector of Hemorrhagic Diseases in Farmed Wildlife

Viruses
(1) Background: Epizootic hemorrhagic disease virus (EHDV) and bluetongue virus (BTV) are orbiviruses that cause hemorrhagic disease (HD) with significant economic and population health impacts on domestic livestock and wildlife.
Jamie S. Benn, Jeremy P. Orange, Juan Pablo Gomez, Emily T. N. Dinh, Bethany L. McGregor, Erik M. Blosser, Nathan D. Burkett-Cadena, Samantha M. Wisely, Jason K. Blackburn   +8 more
doaj   +1 more source

Acute Late-Stage Myocarditis in the Crab-Eating Macaque Model of Hemorrhagic Smallpox

Viruses, 2021
Hemorrhagic smallpox, caused by variola virus (VARV), was a rare but nearly 100% lethal human disease manifestation. Hemorrhagic smallpox is frequently characterized by secondary bacterial infection, coagulopathy, and myocardial and subendocardial ...
Reed F. Johnson, Lauren A. Keith, Timothy K. Cooper, Srikanth Yellayi, Nicole M. Josleyn, Krisztina B. Janosko, James D. Pettitt, David Thomasson, Katie R. Hagen, Robin Gross, John G. Bernbaum, Debbie Douglas, Jeffrey Solomon, Mark Martinez, Kurt Cooper, Marisa St. Claire, Danny R. Ragland, Peter B. Jahrling, Jens H. Kuhn, Andrew E. Arai   +19 more
doaj   +1 more source

High‐Resolution MRI Revealed Different Etiology‐Specific Associations With Cerebral Infarction in Adult Moyamoya Vasculopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective High‐resolution MRI enables detailed assessment of intracranial vessel wall pathology in moyamoya vasculopathy. We aimed to classify adult moyamoya vasculopathy etiologies using high‐resolution MRI and to examine subtype‐specific associations between high‐resolution MRI features and ischemic infarction.
Guangsong Han, Jiachun Pan, Yuehui Hong, Xiaoyuan Fan, Ming Yao, Lixin Zhou, Yicheng Zhu, Feng Feng, Jun Ni   +8 more
wiley   +1 more source

Intracranial hemorrhage in hemorrhagic disease of the newborn

Paediatrica Indonesiana, 2016
Background Hemorrhagic disease of the newborn (HDN) repre-sents a special case of vitamin K deficiency because the four vita-min K-coagulation factors (factors II,VII,IX,X) are already at physi-ologically low levels in the newborn. It responds to vitamin Ktherapy.Objective The aim of this study was to review the incidence, clini-cal manifestation, and ...
Irawan Mangunatmadja, Rina W Sundariningrum, Hardiono D Pusponegoro, Endang Windiastuti   +3 more
openaire   +2 more sources

Movement Disorders in Aicardi–Goutières Syndrome and Response to Immunomodulation

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT This study characterizes movement disorders and treatment responses in seven children with Aicardi–Goutières syndrome (AGS). We retrospectively evaluated motor phenotypes, neuroimaging, and interferon signatures in patients treated with baricitinib or anifrolumab. Spasticity affected all patients, while dystonia was present in 4/7.
Enrique Gonzalez Saez‐Diez, Monica Ferrer Socorro, Kathryn Yang, Nicole Battaglia, Zainab Zaman, Mariko Bennett, Adeline Vanderver, Pui Y. Lee, Lauren A. Henderson, Milena M. Andzelm, Darius Ebrahimi‐Fakhari   +10 more
wiley   +1 more source

Recurrent Hypothermia and Autonomic Dysfunction Secondary to Shapiro Syndrome

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT A 44‐year‐old man presented with recurrent hypothermia, diaphoresis and hypertension. Extensive investigation for infectious, inflammatory, metabolic and endocrine aetiologies was negative. MR scan of the brain demonstrated no lesions but revealed callosal dysgenesis, consistent with Shapiro syndrome.
Naveen Kumar, Jeremy Johnson, Susanne Watkins, Eoin Mulroy   +3 more
wiley   +1 more source

Spatial and Volumetric Characteristics of Glioblastoma: Associations With Clinical Presentation and Survival

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective We aim to comprehensively analyze how regional tumor and edema characteristics are associated with clinical presentations and survival outcomes in a large cohort of glioblastoma patients. Methods Patients with IDH‐wildtype glioblastoma who received brain MRI from 2010 to 2023 were included.
Daniel J. Zhou, Marc Jaskir, Julian Gal, Yombe Fonkeu, Christos Davatzikos, MacLean P. Nasrallah, Jose Garcia, Rubo Xing, Stephen J. Bagley, Arati Desai, Richard E. Phillips, Steven Tobochnik, Colin A. Ellis, James J. Gugger, Nishant Sinha, Joel M. Stein, Kathryn A. Davis   +16 more
wiley   +1 more source

A duplex real-time loop-mediated isothermal amplification assay for simultaneous detection of elephant endotheliotropic herpesvirus types 1 and 5

Frontiers in Veterinary Science
Elephant Endotheliotropic Herpesviruses (EEHVs) are the cause of a highly fatal haemorrhagic disease (HD) in elephants primarily affecting young Asian elephants (Elephas maximus) in both captivity and in the wild.
Chunzhong Xu, Ziyan Wang, Ziyan Wang, Ziyan Wang, Yongjuan Zhao   +4 more
doaj   +1 more source