Results 131 to 140 of about 6,360,309 (211)
UDP‐glucose dehydrogenase variants cause dystroglycanopathy
Annals of Clinical and Translational Neurology, EarlyView.Abstract UDP‐glucose dehydrogenase (UGDH) variants have been associated with hypotonia, developmental delay, and epilepsy. We report the first pathologic evidence of dystroglycanopathy in siblings with UGDH variants. Both presented around 6 months with developmental delay and elevated creatinine kinase.
Anna M. Reelfs +8 more
wiley +1 more source
Clinical Phenotyping of Long COVID Patients Evaluated in a Specialized Neuro‐COVID Clinic
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective To report Long COVID characteristics and longitudinal courses of patients evaluated between 4/14/21–4/14/22 at the University of Pennsylvania Neurological COVID Clinic (PNCC), including clinical symptoms, neurological examination findings, and neurocognitive screening tests from a standardized PNCC neurological evaluation approach ...
Luana D. Yamashita +7 more
wiley +1 more source
CSF Tau Is a Biomarker of Hippocampal Injury in Cryptogenic New‐Onset Refractory Status Epilepticus
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Cryptogenic new‐onset refractory status epilepticus (cNORSE) is a devastating condition characterized by the de novo onset of status epilepticus with unclear etiology. The identification of relevant early biomarkers in cNORSE is important to elucidate pathophysiology, aid clinical decision‐making, and prognosticate outcomes in cNORSE.
Yihui Goh +8 more
wiley +1 more source
ADAPT NXT: Fixed Cycles or Every‐Other‐Week IV Efgartigimod in Generalized Myasthenia Gravis
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective This phase 3b, open‐label, randomized ADAPT NXT study investigated the efficacy, safety, and tolerability of efgartigimod administered in either a fixed cycles dosing regimen (3 cycles of 4 once‐weekly infusions, with 4 weeks between cycles) or a cycle followed by every‐other‐week (Q2W) dosing.
Ali A. Habib +16 more
wiley +1 more source
Arthritis Care &Research, Volume 77, Issue 4, Page 513-521, April 2025.Objective To assess changes in gene expression following tofacitinib treatment and investigate transcription patterns as potential predictors of treatment response in patients with active juvenile idiopathic arthritis (JIA). Methods Whole‐blood samples were collected from patients with JIA at baseline and after 18 weeks of open‐label tofacitinib ...
Esraa Eloseily +7 more
wiley +1 more source
Metabolic Consequences of Rheumatoid Arthritis
Arthritis Care &Research, EarlyView.Patients with rheumatoid arthritis (RA) may have metabolic disruption, which can contribute to adverse long‐term outcomes, for multiple reasons. Patients with RA appear to have a higher risk of sarcopenia, type 1 and type 2 diabetes mellitus, metabolic syndrome, and hypertension. Systemic inflammation in RA can cause a “lipid paradox,” with reduced low‐
Stevie Barry +2 more
wiley +1 more source
Advanced Biology, Volume 9, Issue 4, April 2025.By systematizing a large body of evidence and propose a cascade relationship between protein homeostasis, endoplasmic reticulum stress, mitochondrial dysfunction, and pro‐fibrotic factor, providing a theoretical basis for ATII cells dysfunction as a possible pathophysiological initiating event for idiopathic pulmonary fibrosis.
Zhaoxiong Dong +6 more
wiley +1 more source
Mucus Physically Restricts Influenza A Viral Particle Access to the Epithelium
Advanced Biology, Volume 9, Issue 4, April 2025.The infectious potential of respiratory viruses depends on their ability to navigate through a layer of mucus that serves as a protective barrier in the lung. It is demonstrated that influenza A virus penetration through mucus is significantly limited by the gel's internal microstructure and, to a lesser extent, by adhesive binding to mucin glycans ...
Logan Kaler +8 more
wiley +1 more source
Spatiotemporal Control Over Protein Release from Artificial Cells via a Light‐Activatable Protease
Advanced Biology, Volume 9, Issue 5, May 2025.Stimulus‐responsive protein release is essential for intercellular communication. Mimicking this functionality in artificial cells is promising to study the working principles of cellular signaling. Herein, an engineered light‐activatable protease is implemented in a coacervate‐based artificial cell platform to establish user‐defined spatiotemporal ...
Arjan Hazegh Nikroo +4 more
wiley +1 more source