Results 161 to 170 of about 169,837 (295)

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

Pathophysiology of Hyperkalemia Presenting as Brugada Pattern on Electrocardiogram (ECG). [PDF]

Am J Case Rep, 2020
Doty B, Kim E, Phelps J, Akpunonu P.
europepmc   +1 more source

Phenotype Expansion of Malan Syndrome: New Cases and a Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Malan syndrome is an ultra‐rare overgrowth syndrome caused by pathogenic variants or deletions in nuclear factor one X (NFIX) located at 19p13.2. Here, we report a comprehensive literature review and phenotyping of known patients with Malan syndrome and present a novel cohort of eight patients.
Alex F. Nisbet, Sylvie A. Adams, Zoe S. Katz, Christal G. Delagrammatikas, Kosuke Izumi, Winifred Sigal, Kim Ventarola, Elaine H. Zackai, Julia E. Reid, Grant T. Liu, Jennifer M. Kalish   +10 more
wiley   +1 more source

Targeted Anti‐IL‐1 Immunomodulatory Therapy in Pediatric Onset PPP1R13L‐Related Arrhythmogenic Cardiomyopathy

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal recessive loss‐of‐function variants in PPP1R13L cause an ultra‐rare cardiocutaneous syndrome characterized by rapidly progressive arrhythmogenic cardiomyopathy (ACM). PPP1R13L encodes iASPP, which has two potentially overlapping mechanisms driving ACM as both a regulator of NFκB‐mediated inflammation and a binding partner within the ...
Aaron Renberg, Savannah Coppersmith, Owen Merritt, Amer Heider, Adam Helms, Thomas Michniacki, Jack Luxford, Sarah Josephi‐Taylor, Philip Roberts, Joshua Meisner   +9 more
wiley   +1 more source

Assessment of Electrocardiogram (ECG) Interpretation Proficiency Among Paramedics in a Tertiary Care Teaching Hospital. [PDF]

Cureus
Vishnupriya C, Thomas N, Kumar G, Trikkur S, Maria Thomas A, Ponnaboina SS, Saju D.   +6 more
europepmc   +1 more source

Wireless blood pressure sensor implantation in sheep: A detailed technique

Animal Models and Experimental Medicine, EarlyView.
Twelve adult sheep underwent wireless blood pressure sensor implantation. The procedure lasted an average of 36 min, with mean systolic and diastolic blood pressures of 93 ± 6 and 65 ± 5 mmHg, respectively. This rapid, minimally invasive protocol is a powerful platform for cardiovascular device development.
David Santer, Paul Ecker, Judith Radloff, Katharina Heissl, Smruti Mirchandani, Sabine Leitner, Bruno Mora, Martin Czerny, Roman Gottardi, Michael Moore, Bruno K. Podesser   +10 more
wiley   +1 more source

Non-diagnostic 12-Lead Electrocardiogram (ECG) in an Acute Proximal-to-Mid Right Coronary Artery Occlusion: A Case of Isolated Right Ventricular Infarction. [PDF]

Cureus
Vallapuri GS, Jariwala PV, Gude D, K BKR, Jangam S.   +4 more
europepmc   +1 more source

A Survey of Heart Anomaly Detection Using Ambulatory Electrocardiogram (ECG). [PDF]

Sensors (Basel), 2020
Li HZ, Boulanger P.
europepmc   +1 more source

Age and gender effects on echocardiographic and histopathological cardiac phenotypes in healthy adult mice

Animal Models and Experimental Medicine, EarlyView.
This study investigated the impact of age and sex on cardiac phenotypes in healthy adult C57BL/6J mice using echocardiography and histopathological analyses. Findings revealed that female mice demonstrated more pronounced global cardiac chamber dilation during aging.
Shuang Wen, Xijia Shao, Xiulin Zhang, Ningning Zhang, Xiao Chen, Guangxin Yue, Jiangping Song   +6 more
wiley   +1 more source