Results 151 to 160 of about 2,249 (265)

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

Modeling non-dual awareness <i>via</i> constraint closure: a reinterpretation of groundlessness. [PDF]

Neurosci Conscious
Ward K.
europepmc   +1 more source

Normal‐Appearing White Matter Injury Mediates Chronic Deep Venous Hypoxia and Disease Progression in Multiple Sclerosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To explore how cerebral hypoxia and Normal‐Appearing White Matter (NAWM) integrity affect MS lesion burden and clinical course. Methods Seventy‐nine MS patients, including 13 clinically isolated syndrome (CIS) patients and 66 relapsing–remitting multiple sclerosis (RRMS) patients, and 44 healthy controls (HCs) were recruited from ...
Xinli Wang, Huiying Wang, Zhizheng Zhuo, Ai Guo, Ke Lv, Decai Tian, Chao Chai, Yunyun Duan, Shuang Xia   +8 more
wiley   +1 more source

Hybrid natural language processing tool for semantic annotation of medical texts in Spanish. [PDF]

BMC Bioinformatics
Campillos-Llanos L, Valverde-Mateos A, Capllonch-Carrión A.   +2 more
europepmc   +1 more source

Monocyte LOXHD1 and RHOB Expression Predictive of Progressive Systemic Sclerosis–Associated Interstitial Lung Disease

Arthritis Care &Research, EarlyView.
Objective A leading cause of death among patients with scleroderma (SSc), interstitial lung disease (ILD) remains challenging to prognosticate. The discovery of biomarkers that accurately determine which patients would benefit from close monitoring and aggressive therapy would be an essential clinical tool.
Cristina M. Padilla, Robert Lafyatis, Kevin F. Gibson, Christina Morse, Eleanor Valenzi, Xiaoping Chen, Xiaoyun Li, Yanwu Zhao, Yongseok Park, Dana Ascherman, Jonathan Minden, Robyn Domsic, Yingze Zhang, Daniel J. Kass   +13 more
wiley   +1 more source

Dialogism in publicity discourses of Anglo-American and Chinese universities: A comparative analysis based on Engagement System. [PDF]

PLoS One
Zheng L.
europepmc   +1 more source

Exploring Patients’ Profiles Associated With the Resolution of Acute Calcium Pyrophosphate Arthritis Treated With Colchicine and Prednisone: Post Hoc Analysis of a Randomized Controlled Trial

Arthritis Care &Research, EarlyView.
Objective The objective was to identify factors determining acute arthritis resolution and safety with colchicine and prednisone in acute calcium pyrophosphate (CPP) crystal arthritis. Methods We conducted a post hoc analysis of the COLCHICORT trial, which compared colchicine and prednisone for the treatment of acute CPP crystal arthritis, using a ...
Tristan Pascart, Laurène Norberciak, Pascal Richette, Pierre Robinet, Aurore Pacaud, Gauthier Marchasson, Thibault Rabin, Hélène Luraschi, Pierre Maciejasz, Anne‐France Georgel, Augustin Latourte, Hang‐Korng Ea, Sébastien Ottaviani, Charlotte Jauffret, Vincent Ducoulombier   +14 more
wiley   +1 more source

Simpler Representational Ground. [PDF]

Erkenntnis
De Rizzo J.
europepmc   +1 more source

Financial Distress and Its Determinants in Rheumatoid Arthritis

Arthritis Care &Research, EarlyView.
Objective To quantify the degree of financial distress and identify its determinants in adults with rheumatoid arthritis (RA) given the frequent prolonged use of expensive disease‐modifying therapies. Methods We identified adults enrolled in the FORWARD databank with either RA or noninflammatory musculoskeletal disease (NIMSKD) completing the ...
Amber Brown Keebler, Yunju Im, Sofia Pedro, Ted R. Mikuls, Edward S. Peters, Kaleb Michaud   +5 more
wiley   +1 more source

Why the threat of psychosocial reductionism to patients in psychiatry and medicine is rather ignored. [PDF]

Brain
Molmans THJ.
europepmc   +1 more source