Results 101 to 110 of about 376,033 (269)

Decoding atrial mechanics: human atrial slices as a model for atrial disease

open access: yesAmerican Journal of Physiology-Heart and Circulatory Physiology
Human atrial living myocardial slices (LMS) bridge the gap between clinical disease and tissue-level mechanistic insight. Using the largest dataset of human atrial slices to date, this study maps the biomechanical landscape of the atrium and reveals preserved disease-specific signatures in vitro.
Elisa C. H. van Doorn   +6 more
openaire   +3 more sources

Systematic Cardiac Phenotyping of Patients With Copy Number Variants in the 15q11.2 Breakpoint 1 to Breakpoint 2 Region: A Retrospective Cohort Study From Nine Pediatric Cardiac Centers

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Microdeletions impacting 15q11.2 breakpoint (BP) 1 to BP2, adjacent to the Prader–Willi critical region, have previously described neuropsychiatric associations, with potential low penetrance presentations of congenital heart disease (CHD) also identified.
Morgan B. Wright   +10 more
wiley   +1 more source

Spectrum of Congenital Anomalies in Myhre Syndrome—Insights Into Effects Brought by Altered TGF‐β Signaling via Gain‐of‐Function Variants in SMAD4

open access: yesAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is a rare genetic disorder characterized by progressive multisystem involvement. Gain‐of‐function missense heterozygous variants affecting the Ile500 residue and Arg496 residue of the SMAD4 gene are implicated in this condition.
Kawmadi Gunawardena   +13 more
wiley   +1 more source

A Novel Splice Variant in ERGIC1 Causes Arthrogryposis Multiplex Congenita—Characterization Using Urine‐Derived Cells

open access: yesAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis multiplex congenita (AMC) is defined as the presence of joint contractures affecting at least two body regions at birth. Three different ERGIC1 variants have been reported in individuals with AMC. Here, we report on a 16‐year‐old male with a homozygous ERGIC1 c.250+1G>A variant that was classified as a variant of uncertain ...
Lauren Kerr   +7 more
wiley   +1 more source

Regional gas exchange evaluation during ex vivo lung perfusion in a swine model of localized lung dysfunction

open access: yesAnimal Models and Experimental Medicine, EarlyView.
Abstract Background Ex vivo lung perfusion (EVLP) allows the evaluation of lungs that do not meet standard transplantation criteria. Current procedures do not permit the identification of regional functional deficits. We investigated the feasibility of assessing lobar gas exchange during EVLP in a swine model.
Giulia Maria Ruggeri   +16 more
wiley   +1 more source

A novel rat model of pulmonary artery embolism and the application value of lung ultrasound B‐lines in early‐stage pulmonary embolism

open access: yesAnimal Models and Experimental Medicine, EarlyView.
We report a novel embolus‐induced PE rat model prepared via the inferior vena cava under ultrasound guidance. The embolus employed featured a tubular plastic casing filled with thrombus. By minimizing the contact surface between plasmin and thrombus, it effectively restrains the elevated plasmin activity in rats.
Huide Ma   +7 more
wiley   +1 more source

Investigating the Association of Congenital and Non-congenital Cardiovascular Diseases with Atrial Septal Aneurysm using Echocardiography [PDF]

open access: yesمجله دانشگاه علوم پزشکی گیلان
Background: Nowadays, cardiovascular disease has become one of the most serious health-related problems in the world. Abnormalities of the inter-atrial septum, including atrial septal aneurysm, atrial septal defect, and patent foramen ovale, are common ...
Mohammad Reza Aghajankhah, , , ,
doaj  

Refining a preclinical model of viral myocarditis in accordance with biotech standards

open access: yesAnimal Models and Experimental Medicine, EarlyView.
This study aimed to refine a murine model of Coxsackievirus B3‐induced myocarditis by integrating dietary and imaging innovations to improve animal welfare, data quality, and clinical applicability. The refined diet significantly reduced animal health burden, reduced weight loss, and stabilized blood glucose during development of cardiac inflammation ...
Jonas Stewen   +9 more
wiley   +1 more source

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