Results 41 to 50 of about 98,800 (266)
Acute onset of refractory hypoxemia: A rare hemodynamic cause of dyspnea
Indian Journal of Respiratory Care, 2019 Platypnea-orthodeoxia syndrome (POS) is a rare condition of positional dyspnea with hypoxemia that can pose a diagnostic challenge to clinicians. We report two cases of POS with different pathophysiologic triggers and similar clinical features.
Tommaso Valobra +2 more
doaj +1 more source
Clinical characteristics and concordance of anti‐MDA5 autoantibodies: A multicentre Australian study
Arthritis Care &Research, Accepted Article.Objectives In Australia, anti‐MDA5 antibodies are exclusively tested by line immunoblot assay (LIA). The clinical concordance of a LIA‐positive anti‐MDA5 result is unclear. We aimed to describe the clinical features and determine the clinical concordance of patients with anti‐MDA5 antibodies.
Syed B Ali +11 more
wiley +1 more source
Circulating Biomarkers and Cardiac Structure and Function in Rheumatoid Arthritis
Frontiers in Cardiovascular Medicine, 2021 Background: Rheumatoid arthritis (RA) increases the risk for abnormalities of the cardiac structure and function, which may lead to heart failure (HF). Studying the association between circulating biomarkers and echocardiographic parameters is important ...
Masatake Kobayashi +19 more
doaj +1 more source
When Biology Meets Medicine: A Perspective on Foundation Models
Advanced Intelligent Discovery, EarlyView.Artificial intelligence, and foundation models in particular, are transforming life sciences and medicine. This perspective reviews biological and medical foundation models across scales, highlighting key challenges in data availability, model evaluation, and architectural design.
Kunying Niu +3 more
wiley +1 more source
Frontiers in Cardiovascular Medicine, 2023 In this report, we present a case of left-right sinus fusion in a Ruptured sinus of Valsalva aneurysm (RSVA) that perforated into the myocardium, giving rise to myocardial dissection.
Xinyan Zhou +8 more
doaj +1 more source
POEMS Syndrome: 2026 Update on Diagnosis, Risk‐Stratification, and Management
American Journal of Hematology, EarlyView.ABSTRACT Disease Overview POEMS syndrome is a life‐threatening syndrome due to an underlying plasma cell neoplasm. The major criteria for the syndrome are polyneuropathy, clonal plasma cell disorder (PCD), sclerotic bone lesions, elevated vascular endothelial growth factor, and the presence of Castleman disease.
Angela Dispenzieri
wiley +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Congenital heart disease (CHD) and dermatologic conditions such as lymphedema and acquired melanocytic nevi (AMN) are common in Turner Syndrome (TS). We hypothesized that abnormalities of cranial neural crest cell derivatives drive the skin and heart manifestations of TS. We conducted joint cardiac and skin examinations of volunteers at a 2023
Sarah Elsaim +8 more
wiley +1 more source
Expanded Phenotype Associated With an Intronic PPP1R12A Variant: A Case Report and Literature Review
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Autosomal dominant PPP1R12A‐related genitourinary and/or brain malformation syndrome is a recently described multisystem disorder caused by loss‐of‐function variants in the protein phosphatase 1 regulatory subunit 12a (PPP1R12A) gene. To date, 22 affected individuals have been reported with variable brain malformations and genitourinary ...
Emily M. Bland +4 more
wiley +1 more source
A Case of Multiple Mitochondrial Dysfunctions Syndrome 1 and Review of the Literature
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Multiple mitochondrial dysfunctions syndrome 1 (MMDS1, MIM #605711) due to NFU1 gene defects is an ultra‐rare autosomal recessive inborn error of metabolism associated with reduced function of NFU1 iron–sulfur cluster (ISC) scaffold protein.
Charles R. DiFalco +6 more
wiley +1 more source