American 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
Co‐Occurring Non‐Cardiac Congenital Anomalies Among Cases With Congenital Heart Defects
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Cases with congenital heart defects (CHD) often have other associated anomalies. The aim of this investigation was to assess the prevalence and the types of co‐occurring anomalies in CHD in a well‐defined population. The anomalies co‐occurring with CHD were ascertained in all live births, stillbirths and terminations of pregnancy for fetal ...
Claude Stoll +2 more
wiley +1 more source
Animal models of chronic thromboembolic pulmonary hypertension
Animal Models and Experimental Medicine, EarlyView.Current animal models of CTEPH. Created using BioRender.com. Abstract Chronic thromboembolic pulmonary hypertension (CTEPH) is a rare, yet life‐threatening disorder characterized by persistent pulmonary vascular obstruction and elevated pulmonary artery pressure, with progressive remodeling and subsequent right heart failure.
Yong‐Jian Zhu +5 more
wiley +1 more source
Systematic Review of the Application of Computational Fluid Dynamics for Adult Aortic Diseases. [PDF]
Rev Cardiovasc Med, 2023 Song J +8 more
europepmc +1 more source
A high‐fat diet with vitamin D and propylthiouracil produces a pro‐atherogenic phenotype in rats
Animal Models and Experimental Medicine, EarlyView.Male Sprague–Dawley rats received a cholesterol‐rich high‐fat diet supplemented with vitamin D and propylthiouracil for 11 weeks. The model induced dyslipidemia (increased total cholesterol/low‐density lipoprotein, decreased triglycerides), inflammation (increased interleukin‐6 and serum amyloid A), hypercalcemia, and reduced circulating endothelial ...
Angélique Lewies +3 more
wiley +1 more source
Higher plasma aldosterone concentrations in patients with aortic diseases and hypertension: a retrospective observational study. [PDF]
Eur J Med Res, 2023 Pu Y +10 more
europepmc +1 more source
Porcine kidney xenotransplantation: From primate models to clinical reality
Animal Models and Experimental Medicine, EarlyView.In the face of a critical shortage of human donor kidneys for end‐stage renal disease patients, porcine kidney xenotransplantation has emerged as a viable solution. This field has navigated major hurdles, including immune rejection, physiological incompatibilities, potential biomechanical differences and the risk of cross‐species infection. To overcome
Zihang Guo +3 more
wiley +1 more source
Debranching abdominal aortic hybrid surgery for aortic diseases involving the visceral arteries. [PDF]
Front Cardiovasc Med, 2023 Ma X +9 more
europepmc +1 more source
Animal Models and Experimental Medicine, EarlyView.The research strategy for pharmacodynamics, serum pharmacochemistry, metabolomics, and network pharmacology analysis method in intervention effects of LTT are illustrated. Abstract Background Liujing Toutong tablet (LTT) is a traditional Chinese patent medicine.
Zihan Yu +10 more
wiley +1 more source
The Role of Genetic Testing in Patients with Heritable Thoracic Aortic Diseases. [PDF]
Diagnostics (Basel), 2023 Monda E +19 more
europepmc +1 more source