Expanding the Phenotype of TUFM‐Related Combined Oxidative Phosphorylation Deficiency 4
ABSTRACT Combined oxidative phosphorylation deficiency 4 (COXPD4) is a rare mitochondrial condition caused by biallelic deleterious variants in the nuclear‐encoded gene TUFM. To date, most individuals with COXPD4 have presented with encephalopathy, hypotonia, and abnormal brain imaging. Many of the reported individuals died in infancy. We aim to expand
Noémie Villeneuve‐Cloutier +2 more
wiley +1 more source
National Trends and Factors Associated with Ischemic Heart Disease Among Individuals with Hypertension in Thailand from 2011 to 2018. [PDF]
Sakboonyarat B +2 more
europepmc +1 more source
ABSTRACT The ciliopathies are a group of genetic disorders caused by defective function of either the primary cilia (a large number) or the motile cilia (a much smaller number). These have been defined as diseases with mutations in genes encoding individual ciliary or cilia‐associated proteins.
Robert P. Erickson +1 more
wiley +1 more source
Global burden of ischemic heart disease attributable to dietary risks in young adults, 1990-2021: trends and future projections. [PDF]
Liang Y +5 more
europepmc +1 more source
ABSTRACT In epidemiological studies, obsessive‐compulsive disorder (OCD) is robustly associated with increased risk of cardiometabolic disorders, including cardiovascular diseases, type 2 diabetes, and obesity. However, the mechanisms behind these associations are unclear. We conducted genetic correlation analyses to explore shared genetic etiology and
Robyn E. Wootton +217 more
wiley +1 more source
Interventional diagnostic procedures in INOCA: an essential approach in ischemic heart disease. [PDF]
Matsuzawa Y +5 more
europepmc +1 more source
A modified approach was developed to accurately identify the isovolumetric relaxation time (IVRT) using an apical three‐chamber view. Compared with conventional echocardiography, isovolumic relaxation strain imaging (IVSI) helps to detect the earlier alternations of diastolic function in transverse aortic constriction (TAC) mice.
Jingjing Liang +3 more
wiley +1 more source
The association between inflammatory bowel disease and ischemic heart disease: A retrospective cohort study. [PDF]
Mosli MH +9 more
europepmc +1 more source
Animal models of chronic thromboembolic pulmonary hypertension
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
Effects of supine ergometer exercise on central and peripheral circulation in patients with ischemic heart disease. [PDF]
Matsumoto N +5 more
europepmc +1 more source

