Results 141 to 150 of about 341,080 (292)

Expanding the Phenotype of TUFM‐Related Combined Oxidative Phosphorylation Deficiency 4

American Journal of Medical Genetics Part A, EarlyView.
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, Jodi Warman‐Chardon, Danielle K. Bourque   +2 more
wiley   +1 more source

Lymphatic Abnormalities in Noonan Syndrome Extend Beyond Clinically Apparent Disease

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Lymphatic disease represents a well‐described manifestation of Noonan syndrome (NS), yet the full phenotypic spectrum remains incompletely characterized, especially in asymptomatic individuals. We conducted a cross‐sectional study including 10 individuals with NS (four with peripheral lymphedema and six without) and 10 age‐ and sex‐matched ...
Inger Norlyk Sheyanth, Benjamin Kelly, Sheyanth Mohanakumar, Steffen Ringgaard, Yoav Dori, Irene Kibæk Nielsen, Uffe Birk Jensen, Vibeke Elisabeth Hjortdal   +7 more
wiley   +1 more source

Vascular Abnormalities in Hypermobile Ehlers–Danlos Syndrome: A Retrospective Cohort Study

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Hypermobile Ehlers–Danlos syndrome (hEDS), while generally free from severe vascular complications, may occasionally present with cardiac and vascular abnormalities that warrant specific investigation. While studies have been conducted on the prevalence of cardiac involvement, none have focused on vascular aspects. This retrospective study was
Thomas Gehin, Malika Foy, Robert Carlier, Valentin Renault, Karelle Benistan   +4 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, Lin‐Chao Zhou, Xiao‐Xue Zhang, Xiao‐Yang Ren, Yi Yan, Shao‐Fei Liu   +5 more
wiley   +1 more source

Cardiac magnetic resonance predictors of adverse outcomes in Chagas cardiomyopathy. [PDF]

Front Cardiovasc Med
Ariza-Ordóñez N, Rangel D, Valderrama-Achury MD, Pino Marín A, Forero JF, Jaimes C, Guerrero-Chalela CE, Chetrit M, Medina HM.   +8 more
europepmc   +1 more source

Research progress on biomarkers of traumatic brain injury

Animal Models and Experimental Medicine, EarlyView.
Traumatic brain injury: From primary insult to secondary neuroinflammation and degeneration. Abstract Traumatic brain injury (TBI) is a common disorder of the nervous system and has become a leading cause of death and disability worldwide, imposing a substantial burden on patients and their social circles. Its main symptoms include dyskinesia, language
Xuting Shen, Si Cheng, Shuyi Chen, Mengyue Wang, Tangying Li, Weicheng Xu, Yifan Zhang, Ping Yuan, Lei Shi   +8 more
wiley   +1 more source

Cardiac Magnetic Resonance to Define Myocardial Structure in Obesity-Associated Heart Failure. [PDF]

Curr Cardiol Rep
Cutts JA, Epstein FH, Patel AR.
europepmc   +1 more source

The characteristics of collagen‐induced rheumatoid arthritis in macaques and the changes of heart

Animal Models and Experimental Medicine, EarlyView.
The disease progression in CIA macaques was categorized into three stages: IIR (days 14–34): The indicators related to rheumatoid arthritis and the levels of immunoglobulin were all elevated. There was a small amount of joint effusion, edema and mild synovial hyperplasia. No joint swelling was observed by naked eye.
Lei Zhang, Haifeng Jiang, Zhen Xu, Tingyu Dong, Xiaoyi Liu, Shangxue Yan, Jiajie Kuai, Yan Chang, Wei Wei   +8 more
wiley   +1 more source

Detection of Pericardial Thymoma by Cardiac Magnetic Resonance Imaging. [PDF]

JACC Case Rep
Torres Ordonez A, Oredipe O, Anweri A, Soon-Shiong R, Alagiozian-Angelova V, Tottleben J.   +5 more
europepmc   +1 more source

Prognostic value of cardiac magnetic resonance-derived global longitudinal strain in LGE-negative dilated cardiomyopathy. [PDF]

PLoS One
Zhang TY, Lan T, Wang LL, Zheng YC, Feng XY, Wang FY, Zhang F, Xu HY, Liu X, Yang Z, Li R.   +10 more
europepmc   +1 more source