Results 101 to 110 of about 4,606,217 (394)

Fetal Akinesia/Hypokinesia and Arthrogryposis of Neuromuscular Origin: Etiologic Groups, Genetics, and Phenotypic Spectrum

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To provide a comprehensive clinical and genetic characterization of individuals with arthrogryposis multiplex congenita (AMC), focusing on the distribution of genetic etiologies across the neuromuscular spectrum and comparing myogenic and neurogenic subtypes. Methods A total of 105 individuals with AMC were clinically and genetically
Florencia Pérez‐Vidarte, Berta Estévez‐Arias, Leslie Matalonga, Delia Yubero, Anna Codina, Carlos Ortez, Julita Medina, Lidia DeSena DeCabo, Laura Carrera‐García, Jesica Expósito‐Escudero, Cristina Jou, Eduardo F. Tizzano, Andres Nascimento, Daniel Natera‐de Benito   +13 more
wiley   +1 more source

Mice lacking sialyltransferase ST3Gal-II develop late-onset obesity and insulin resistance [PDF]

, 2016
Sialyltransferases are a family of 20 gene products in mice and humans that transfer sialic acid from its activated precursor, CMP-sialic acid, to the terminus of glycoprotein and glycolipid acceptors.
Aja, Susan, Aoki, Kazuhiro, Lei, Xia, Lopez, Pablo, Ronnett, Gabriele V, Schnaar, Ronald L., Seldin, Marcus M., Wong, G. William   +7 more
core   +1 more source

SARS‐CoV‐2 Is Linked to Brain Volume Loss in Multiple Sclerosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective The impact of SARS‐CoV‐2 infection on brain and spinal cord pathology in patients with multiple sclerosis (pwMS) remains unclear. We aimed to describe changes in brain lesion activity and brain and spinal cord volumes following SARS‐CoV‐2 infection.
Tomas Uher, Dominika Stastna, Ingrid Menkyova, Vaclav Capek, Jiri Lindner, Petra Nytrova, Jan Krasensky, Eliza Varju, Miguel D'haeseleer, Eva Kubala Havrdova, Dana Horakova, Manuela Vaneckova, Niels Bergsland   +12 more
wiley   +1 more source

Specialized physiological studies in support of manned space flight [PDF]

Research in aerospace medicine is presented. The reports discussed include: circulatory and respiratory transients during and after orthostasis and the effects of beta adrenergic blockade; the determination of total body water by an ethanol dilution ...
Luft, U. C.
core   +1 more source

Artificial intelligence/machine learning in respiratory medicine and potential role in asthma and COPD diagnosis.

Journal of Allergy and Clinical Immunology: In Practice, 2021
MD a Alan Kaplan, PhD Hui Cao, MD c J. Mark FitzGerald, PhD Nick Iannotti, PhD Eric Yang, PhD Janwillem W.H. Kocks, MD Konstantinos Kostikas, MD David Price, PhD Helen K. Reddel, PhD Ioanna Tsiligianni, MD m Claus F. Vogelmeier, MD n Pascal Pfister, PharmD Paul Mastoridis, Toronto   +13 more
semanticscholar   +1 more source

Phenotyping Healthcare Use 2–3 Decades Before the First Multiple Sclerosis Demyelinating Event

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Phenotype hospital, physician, and emergency department (ED) visits by diagnoses and specialty up to 29 years pre‐multiple sclerosis (MS) onset versus a matched population without MS. Methods We identified people with MS (PwMS) using population‐based administrative data from Ontario, Canada (1991–2020).
Helen Tremlett, Karl Everett, Colleen J. Maxwell, Feng Zhu, Ayesha Asaf, Ping Li, Kyla A. McKay, Yinshan Zhao, Ruth Ann Marrie   +8 more
wiley   +1 more source

BCS1L‐Associated Disease: 5′‐UTR Variant Shifts the Phenotype Towards Axonal Neuropathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives To investigate the consequences of a pathogenic missense variant (c.838C>T; p.L280F) and a 5′‐UTR regulatory variant (c.‐122G>T) in BCS1L on disease pathogenesis and to understand how regulatory variants influence disease severity and clinical presentation.
Rotem Orbach, Nunziata Maio, Russell J. Butterfield, A. Reghan Foley, Sarah Silverstein, Yan Li, Katherine Chao, Tanya J. Lehky, Abigail Potticary, Tracey A. Rouault, Sandra Donkervoort, Carsten G. Bönnemann   +11 more
wiley   +1 more source

USSR Space Life Sciences Digest, issue 32 [PDF]

This is the thirty-second issue of NASA's USSR Space Life Sciences Digest. It contains abstracts of 34 journal or conference papers published in Russian and of 4 Soviet monographs.
Rowe, Joseph, Stone, Lydia Razran
core   +1 more source

Standardization of Spirometry 2019 Update. An Official American Thoracic Society and European Respiratory Society Technical Statement

American Journal of Respiratory and Critical Care Medicine, 2019
Background: Spirometry is the most common pulmonary function test. It is widely used in the assessment of lung function to provide objective information used in the diagnosis of lung diseases and monitoring lung health.
B. Graham, I. Steenbruggen, Martin R Miller, I. Barjaktarevic, B. Cooper, G. Hall, T. Hallstrand, D. Kaminsky, K. McCarthy, M. McCormack, Cristine E Oropez, M. Rosenfeld, S. Stanojevic, M. Swanney, Bruce R Thompson   +14 more
semanticscholar   +1 more source

In Vitro Modeling of Natural Killer Cell Cytotoxicity to Inform Personalized ALS Therapeutics

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Natural killer (NK) cells might contribute to motor neuron death in amyotrophic lateral sclerosis (ALS) through direct cytotoxicity, a process that could be inhibited with the FDA‐approved JAK/STAT pathway inhibitor, tofacitinib. This study aimed to verify that tofacitinib can suppress NK cell cytotoxicity, investigate if immune cell
Benjamin J. Murdock, Jihyun Park, Dae‐Gyu Jang, Bangyao Zhao, Samuel J. Teener, Ian F. Webber‐Davis, Lili Zhao, Eva L. Feldman, Stephen A. Goutman   +8 more
wiley   +1 more source