Results 261 to 270 of about 149,441 (303)

Advantages of Exome Sequencing Over Panel Testing for Individuals With a Seizure Indication

Annals of the Child Neurology Society, EarlyView.
ABSTRACT Objective Our aim was to investigate the advantages of exome sequencing versus panel testing for patients with unexplained seizures. Methods We reviewed the diagnostic outcomes of exome sequencing by a commercial genetics laboratory for more than 16 000 individuals with a clinical history of seizures or suspected seizures.
Michelle M. Morrow, Elizabeth Butler, Melanie P. Napier, Lindsay Havens‐Dyer, Annabelle Tuttle, Patricia C. Lopes, Britt A. Johnson, Paul Kruszka, Kirsty McWalter   +8 more
wiley   +1 more source

Non‐Syndromic Tumefactive Demyelinating Lesions in the Pediatric Population: Four Case Reports and Review of the Literature

Annals of the Child Neurology Society, EarlyView.
ABSTRACT Introduction Tumefactive demyelinating lesions (TDLs) are large lesions (> 2 cm) seen in demyelinating syndromes such as multiple sclerosis, myelin oligodendrocyte glycoprotein antibody‐associated disorder, and neuromyelitis optica spectrum disorder. They rarely occur in children and most often have a monophasic course.
Elizabeth C. Ballinger, Hannah F. Todd, Jonathan M. Yarimi, Timothy E. Lotze, Nikita M. Shukla, Kristen S. Fisher, Alexander J. Sandweiss   +6 more
wiley   +1 more source

Epilepsy Phenotypic Spectrum of NUS1‐Related Disorder: A Case Series

Annals of the Child Neurology Society, EarlyView.
ABSTRACT Background Epilepsy with myoclonic and atonic seizures (EMAtS), also known as Doose syndrome, accounts for 1%–2% of childhood epilepsies, and various genes have been implicated in causing this epilepsy syndrome. NUS1 encodes for Nogo‐B receptor (NgBR), which stabilizes the dehydrodolichyl‐diphosphate synthase complex in the endoplasmic ...
Saumel Ahmadi, Natalie Fulton, Michael Morrissey, Rebekah Landre, Stuart Tomko, Fumihiko Urano, Réjean M Guerriero   +6 more
wiley   +1 more source

Comparative Bioequivalence and Safety Evaluation of Ibuprofen/Phenylephrine Hydrochloride Fixed‐Dose Combination Tablets in Healthy Chinese Volunteers

Clinical Pharmacology in Drug Development, EarlyView.
Abstract This single‐center, randomized, open‐label bioequivalence program compared two fixed‐dose combination (FDC) tablets containing ibuprofen (200 mg) and phenylephrine hydrochloride (10 mg) from different manufacturers in healthy Chinese adults under fasting and fed conditions. A three‐period, partially replicated crossover design was used for the
Menghan Ye, Rui Zhang, Jing Wan, Jinping Zhou, Pengpeng Guo, Dianwen Yu, Peixia Li, Yani Liu, Shaojun Shi   +8 more
wiley   +1 more source

Comparative study on severity and preventive behaviors of Japanese cedar pollen allergy during pollen scattering season: Single-center analysis. [PDF]

J Public Health Res
Tai T, Watanabe M, Yamashita S, Okada K, Namba H, Yamamoto T, Kawada K, Motoki T, Tanaka H, Kosaka S.   +9 more
europepmc   +1 more source

Breaking Barriers: Characterization of the Intradermal Lipopolysaccharide Challenge as an In Vivo Model for Controlled Induction of Vascular Leakage in Healthy Volunteers

Clinical Pharmacology &Therapeutics, EarlyView.
Vascular leakage and its associated phenomena vasodilation and endothelial activation are pathophysiological features of various diseases. Multiple drug candidates targeting these phenomena are in development, necessitating translational models to demonstrate proof‐of‐pharmacology and proof‐of‐mechanism in early‐phase clinical trials.
Marella Cornelia Elizabeth van Ruissen, Menno van Diemen, Liza Botros, Ingrid Tomljanovic, Hind Achbo, Dimitra Eleftheriou, Paul Willem Schenk, Naomi Bertine Klarenbeek, Derek William Gilroy, Manon Aleida Adriana Jansen, Matthijs Moerland   +10 more
wiley   +1 more source

Association between COVID-19 vaccination and atopic diseases in US adults: A retrospective cohort study. [PDF]

PLoS One
Lu M, Bu Z, Xiang N, Yu J.
europepmc   +1 more source

Population Pharmacokinetic and Exposure‐Efficacy Analysis of Baloxavir Marboxil for Influenza Treatment and Post‐Exposure Prophylaxis in Children

Clinical Pharmacology &Therapeutics, EarlyView.
Baloxavir acid (baloxavir), the active metabolite of the prodrug baloxavir marboxil, is a selective inhibitor of the influenza virus cap‐dependent endonuclease. The population pharmacokinetic (popPK) profile of baloxavir in adults/adolescents has been described previously.
Sylvie Retout, Stefan De Buck, Jacques Gaudreault, Sébastien Jolivet, Vincent Duval, Valérie Cosson, Marie‐Laure Delporte   +6 more
wiley   +1 more source

Cytopathologic Features of Metastatic Malignant Mesothelioma With SMARCB1 (INI‐1) Deficient Diagnosed by Ultrasound‐Guided Fine‐Needle Aspiration: A Case Report

Diagnostic Cytopathology, EarlyView.
ABSTRACT Malignant mesothelioma (MM) is a rare yet aggressive neoplasm that arises from mesothelial cells lining the thoracic and abdominal cavities, the pericardium, and the tunica testis. Characterized by rapid progression, high invasiveness, and a poor prognosis, MM poses significant clinical challenges. SMARCB1, also referred to as INI‐1, hSNF5, or
Jun Yang, Juandi Liu, Jing Jin, Deng Pan, Lei Shao   +4 more
wiley   +1 more source

Non-Linear Association of Relationship Between Serum Vitamin E and Eczema in US Adults. [PDF]

Food Sci Nutr
Yu T, Wang P, Wu S, Cheng X, Li L.
europepmc   +1 more source