Results 101 to 110 of about 118,446 (304)
The 9th International RASopathies Symposium
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT The RASopathies are a group of congenital disorders with overlapping clinical manifestations that are caused by pathogenic germline or early somatic variants that result in the hyperactivation of the RAS/mitogen‐activated protein kinase (MAPK) signaling pathway.
Pau Castel +41 more
wiley +1 more source
INFECTIVE ENDOCARDITIS IN A RHEUMATOLOGIST'S PRACTICE
Научно-практическая ревматология, 2012 Objective: to analyze «rheumatic» symptoms in patients with infective endocarditis (IE) and to investigate the specific features of the disease and hemodynamics in patients with prior rheumatic valvular disease Subjects and methods.
E Yu Ponomareva, Andrei Petrovich Rebrov
doaj +1 more source
Defining Features of Gabriele‐de Vries Syndrome in Adults: A Case Report and Literature Review
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Gabriele‐de Vries syndrome (GADEVS) is a neurodevelopmental disorder caused by heterozygous pathogenic variants in the YY1 gene. Like most rare genetic syndromes, the adult manifestations of GADEVS remain poorly defined. Here, we describe the oldest patient reported to date with GADEVS—a 63‐year‐old woman with a c.1177_1179del YY1 variant ...
Ethan W. Hollingsworth, Changrui Xiao
wiley +1 more source
, 1994 ONLINEWHO/CVD/94.1.
Joint WHO/ISFC Meeting on Rheumatic Fever/Rheumatic Heart Disease Control with Emphasis on Primary Prevention (1994: Geneva, Switzerland)
core
Zebrafish and CRISPR—A synergistic approach to decipher and cure human diseases
Animal Models and Experimental Medicine, EarlyView.Zebrafish, with high genetic homology to humans, serves as a powerful vertebrate model for disease modeling and drug discovery. Integration of CRISPR/Cas9 technology enables precise genome editing, facilitating the development of translational models for human diseases.
Manikandan Sivaprakasam +4 more
wiley +1 more source
Distinct Mitral Valve Proteomic Profiles in Rheumatic Heart Disease and Myxomatous Degeneration
, 2014 Rheumatic heart disease (RHD) affects heart-valve tissue and is the most serious consequence of group A Streptococcus infection. Myxomatous degeneration (MXD) is the most frequent valvopathy in the western world.
Jorge Kalil +10 more
core +1 more source
Multimorbidity and Associations with Cognition and Alzheimer's Disease Biomarkers
Annals of Neurology, EarlyView.Objective Multimorbidity, the coexistence of 2 or more chronic conditions, has been linked to cognitive aging and Alzheimer's disease (AD) and AD‐related dementias, yet the mechanisms remain unclear. We aimed to examine the associations of multimorbidity with cognition and biomarkers across multiple mechanistic pathways.
Xiaqing Jiang +45 more
wiley +1 more source
Contemporary management of pain in cirrhosis: Toward precision therapy for pain
Hepatology, EarlyView., 2022 Abstract Chronic pain is highly prevalent in patients with cirrhosis and is associated with poor health‐related quality of life and poor functional status. However, there is limited guidance on appropriate pain management in this population, and pharmacologic treatment can be harmful, leading to adverse outcomes, such as gastrointestinal bleeding ...
Alexis Holman +4 more
wiley +1 more source
Relative Risk of Rheumatic Heart Disease.
, 2016 Relative Risk of Rheumatic Heart Disease.
Peter Lwabi (310240) +8 more
core +1 more source
Therapeutic Applications of Stimuli‐Based Release and Engineering of Extracellular Vesicles
Advanced NanoBiomed Research, EarlyView.This review summarizes the effects of endogenous and exogenous stimuli, their effects on the natural release of extracellular vesicles, as well as their uptake and release. It also gives an overview of stimuli‐responsive EVs and their therapeutic applications. Extracellular vesicles (EVs), nano‐ to microsized lipid bilayer membrane‐bound particles, are
Gloria Kemunto, Kristen Dellinger
wiley +1 more source