Results 51 to 60 of about 524,540 (290)

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

Epilepsy‐Associated Variants of a Single SCN1A Codon Exhibit Divergent Functional Properties

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Pathogenic variants in SCN1A, which encodes the voltage‐gated sodium channel NaV1.1, are associated with multiple epilepsy syndromes exhibiting a range of clinical severity. SCN1A variants are reported in different syndromes, including Dravet syndrome, which is associated with loss‐of‐function, whereas neonatal/infantile‐onset ...
Lanie N. Liebovitz, Christopher H. Thompson, Linda C. Laux, Alfred L. George Jr.   +3 more
wiley   +1 more source

Clinical Validation of Plasma p‐217tau in Neurological Diseases

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Plasma p‐217tau is a minimally invasive but specific biomarker for diagnosing Alzheimer's disease (AD). However, its disease specificity remains to be clinically evaluated. We validated the reliability of the p‐217tau biomarker in 12 other neurological diseases.
Takeshi Kawarabayashi, Takumi Nakamura, Ryoma Takahashi, Tetsuya Ueda, Seiji Kinoshita, Chikage Uchida, Takashi Sugawara, Kentaro Hashimoto, Kunihiko Ishizawa, Masakuni Amari, Hiroo Kasahara, Yoshio Ikeda, Masamitsu Takatama, Mikio Shoji   +13 more
wiley   +1 more source

Risk of Retinopathy Associated with Long‐Term Use of Hydroxychloroquine in Patients with Rheumatic Diseases: A Systematic Review and Meta‐Analysis

Arthritis Care &Research, Accepted Article.
Objective We aimed to estimate the prevalence and cumulative incidence of hydroxychloroquine retinopathy (HCQ‐R) and its risk factors among long‐term HCQ users with rheumatic diseases through a systematic review and meta‐analysis of observational studies that used spectral‐domain OCT (SD‐OCT) for screening. Methods A systematic search of PubMed, Scopus,
Narsis Daftarian, Chloe Yue, Steve D Levasseur, Hui Xie, J. Antonio Avina‐Zubieta   +4 more
wiley   +1 more source

Pathogenesis of rabies in a pregnant HIV immune-compromised woman in Zambia: A case report

Journal of Public Health in Africa
Rabies is a fatal neglected tropical zoonotic disease caused by neurotropic viruses of the genus Lyssavirus in the family Rhabdoviridae. We report the disease progression in a 30-year-old woman, in her eighth pregnancy, living with human immunodeficiency
Martin Nyahoda, Mukatimui K. Munalula, Agripa Lungu, Walter Muleya, Selia Ng’anjo, Willies Silwimba, Chrispin Mwando, Joyce N. Shampile   +7 more
doaj   +1 more source

A Bespoke Programmable Interpenetrating Elastomer Network Composite Laryngeal Stent for Expedited Paediatric Laryngotracheal Reconstruction

Advanced Functional Materials, EarlyView.
A programmable interpenetrating double‐network architecture, created via 3D‐TIPS printing and resin infusion, synergistically combines thermoplastic and thermosetting elastomers to balance structural rigidity and surface softness—crucial for paediatric laryngeal stents.
Elizabeth F. Maughan, Lei Wu, Dong Zhang, Linxiao Wu, Graca Ferreira Vaz Pinto Mendes, Wanqiao J. Tu, Heping Ma, Toby J. Proctor, Colin R. Butler, Thomas Kjærgaard, Mark W. Lowdell, Martin A. Birchall, Robert E. Hynds, Richard Hewitt, Wenhui Song   +14 more
wiley   +1 more source

Electroactive Liquid Crystal Elastomers as Soft Actuators

Advanced Functional Materials, EarlyView.
Electroactive liquid crystal elastomers (eLCEs) can be actuated via electromechanical, electrochemical, or electrothermal effects. a) Electromechanical effects include Maxwell stress, electrostriction, and the electroclinic effect. b) Electrochemical effects arise from electrode redox reactions.
Yakui Deng, Min‐Hui Li
wiley   +1 more source

School-age outcomes among IVF and ICSI-conceived children: a causal inference analysis using linked population-wide data

BMC Medicine
Background Use of intracytoplasmic sperm injection (ICSI) continues to increase as the most common mode of oocyte insemination during in vitro fertilisation (IVF), sometimes in the absence of clear indications (i.e. male factor infertility).
Amber L. Kennedy, Richard J. Hiscock, Beverley J. Vollenhoven, Catharyn J. Stern, Lyle C. Gurrin, Tiki Osianlis, Aleah Kink, Susan P. Walker, Jeanie L. Y. Cheong, Jon L. Quach, David Wilkinson, John McBain, Mark P. Green, Jessica A. Atkinson, Franca Agresta, Susan P. Baohm, Stephen Tong, Roxanne Hastie, Anthea C. Lindquist   +18 more
doaj   +1 more source

Socioeconomic inequalities in exclusive breastfeeding, early initiation of breastfeeding, and skin-to-skin contact between mother and newborn in Nigeria: evidence from Demographic and Health Survey [PDF]

, 2020
Michael Ekholuenetale, Amit Arora, Amadou Barrow   +2 more
openalex   +1 more source

Exchange transfusions in severe Rh‐mediated alloimmune haemolytic disease of the foetus and newborn: a 20‐year overview on the incidence, associated risks and outcome [PDF]

, 2021
Isabelle M. C. Ree, Carolin F. J. Besuden, Vivianne E. H. J. Wintjens, E. J. T. Verweij, Dick Oepkes, Masja de Haas, Enrico Lopriore   +6 more
openalex   +1 more source