Results 41 to 50 of about 52,891 (241)

Noonan Syndrome Spectrum Disorders Predispose to Systemic Lupus Erythematosus: Case Report and Critical Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT RASopathies are clinically overlapping neurodevelopmental syndromes resulting from germline mutations in genes involved in the rat sarcoma/mitogen‐activated protein kinases (RAS/MAPK) pathway. Historically, RASopathies have been described by clinical phenotypes, such as Noonan syndrome and Neurofibromatosis type I.
Anastasia‐Vasiliki Madenidou, Gillian I. Rice, James O'Sullivan, Ben Parker, Ian N. Bruce, Emma Burkitt‐Wright, Tracy A. Briggs   +6 more
wiley   +1 more source

Impact of Rapid Exome Sequencing on Pediatric Patients With Cardiomyopathy and Acute Heart Failure

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Few studies describe the impact of rapid exome sequencing (ES) on pediatric cardiomyopathy in urgent clinical settings. Here, we retrospectively report the impact of rapid singleton ES in pediatric patients presented with acute heart failure and isolated cardiomyopathy or myocarditis, between 2021 and 2023 at a single tertiary care center.
Tameemi Abdalla Moady, Tova Hershkovitz, Clair Habib, Ori Attias, Amir Hadash, Galit Tal, Asaad Khoury, Josef Ben‐Ari, Danny Eytan, Tamar Paperna, Karin Weiss   +10 more
wiley   +1 more source

Case Report: Minimally Invasive Therapy by Transcatheter Aortic Valve Replacement and Percutaneous Intramyocardial Septal Radiofrequency Ablation for a Patient With Aortic Stenosis Combined With Hypertrophic Obstructive Cardiomyopathy: Two-Year Follow-Up Results

Frontiers in Cardiovascular Medicine, 2021
With the development of minimally invasive technologies in the medical field, more and more technologies can replace surgical thoracotomy and relieve the pain of disease via minimally invasive methods. We reported a case of aortic valve stenosis combined
Yijian Li, Yuan Feng, Xi Li, Lei Zuo, Tao Gu, Liwen Liu, Mao Chen   +6 more
doaj   +1 more source

Individualized interactomes for network-based precision medicine in hypertrophic cardiomyopathy with implications for other clinical pathophenotypes

Nature Communications, 2021
Progress in precision medicine is limited by insufficient knowledge of transcriptomic or proteomic features in involved tissues that define pathobiological differences between patients.
Bradley A. Maron, Rui-Sheng Wang, Sergei Shevtsov, Stavros G. Drakos, Elena Arons, Omar Wever-Pinzon, Gordon S. Huggins, Andriy O. Samokhin, William M. Oldham, Yasmine Aguib, Magdi H. Yacoub, Ethan J. Rowin, Barry J. Maron, Martin S. Maron, Joseph Loscalzo   +14 more
doaj   +1 more source

CYP2C19 genotype testing for clopidogrel: A guideline developed by the UK Centre of Excellence in Regulatory Science and Innovation in Pharmacogenomics (CERSI‐PGx)

British Journal of Clinical Pharmacology, EarlyView.
Clopidogrel, an antiplatelet agent, is currently licensed in the United Kingdom for the prevention and treatment of atherothrombotic events in cerebrovascular disease, coronary artery disease and peripheral arterial disease. Clopidogrel requires metabolic activation by the cytochrome P450 enzyme CYP2C19 to be effective.
Cinzia Dello Russo, Iain Frater, Rebecca Kuruvilla, Stefanie Lip, Hannah O'Neill, Kerry Burke, Vicky Chaplin, Alexander S. F. Doney, Salim Elyas, Nicholas Greaves, Sophie Harding, David Hargroves, Judith Hayward, Dyfrig A. Hughes, Tom A. T. Hughes, Sree Kondapally, Patrick Mok, Aaron Peace, Imran Rafi, Simon Ray, Vicky Stinton, Luigi Venetucci, Munir Pirmohamed   +22 more
wiley   +1 more source

Pathogenesis and potential therapeutic targets of trichorhinophalangeal syndrome; lessons obtained from animal studies

Developmental Dynamics, EarlyView.
Abstract Trichorhinophalangeal syndrome (TRPS) is a rare genetic disease inherited in an autosomal dominant manner. It occurs in 1 in 100,000 people globally and is caused by several types of mutations of the TRPS1 gene. Since the first human patient was reported in 1966, typical and atypical pathologies, disease courses, and treatment case ...
Naoya Saeki, Rinna Kanai, Sayuri Tatsuta, Shinichi Kawaguchi, Masatsune Itoh, Shinsuke Ohba, Makoto Abe   +6 more
wiley   +1 more source

Predictive value of estimated plasma volume for postoperative hypotension in percutaneous intramyocardial septal radiofrequency ablation treating for hypertrophic obstructive cardiomyopathy

BMC Cardiovascular Disorders
Background Estimated plasma volume status (ePVS) estimated by the Duarte formula is associated with clinical outcomes in patients with heart failure.
Bo Shan, Jing Li, Zhangwei Shi, Chao Han, Juan Zhang, Jia Zhao, Rui Hu, Liwen Liu, Shengjun Ta   +8 more
doaj   +1 more source

Systemic aging fuels heart failure: Molecular mechanisms and therapeutic avenues

ESC Heart Failure, Volume 12, Issue 2, Page 1059-1080, April 2025.
Abstract Systemic aging influences various physiological processes and contributes to structural and functional decline in cardiac tissue. These alterations include an increased incidence of left ventricular hypertrophy, a decline in left ventricular diastolic function, left atrial dilation, atrial fibrillation, myocardial fibrosis and cardiac ...
Zhuyubing Fang, Umar Raza, Jia Song, Junyan Lu, Shun Yao, Xiaohong Liu, Wei Zhang, Shujuan Li   +7 more
wiley   +1 more source

Echocardiography-guided percutaneous intramyocardial alginate hydrogel implants for heart failure: canine models with 6-month outcomes

Frontiers in Cardiovascular Medicine
BackgroundEchocardiography-guided percutaneous intramyocardial alginate-hydrogel implantation (PIMAHI) is a novel treatment approach for heart failure (HF).
Hui Ma, Wenqing Gong, D. Scott Lim, Jing Li, Shengjun Ta, Rui Hu, Xiaojuan Li, Minjuan Zheng, Liwen Liu   +8 more
doaj   +1 more source

Cardiology: hypertrophic cardiomyopathy [PDF]

Clinical Medicine, 2019
Hypertrophic cardiomyopathy (HCM) is defined by the presence of increased left ventricular (LV) wall thickness (for adults, >15 mm in one or more LV myocardial segments) that is not solely explained by abnormal loading conditions (eg hypertension).
openaire   +2 more sources