Results 91 to 100 of about 36,422 (225)

Elucidating the cellular determinants of the end‐systolic pressure‐volume relationship of the heart via computational modelling

The Journal of Physiology, EarlyView.
Abstract figure legend Using a multiscale computational model of left ventricular electromechanics, we investigated how sarcomere dynamics influence the end‐systolic pressure‐volume (ESPV) relationship in ejecting beats compared to isovolumetric beats.
Francesco Regazzoni, Corrado Poggesi, Cecilia Ferrantini   +2 more
wiley   +1 more source

Cannabinoid exposure during pregnancy: Cardiorespiratory effects and offspring outcomes

The Journal of Physiology, EarlyView.
Abstract figure legend Prenatal exposure to cannabinoids has been investigated across human and animal studies to understand its impact on physiological development. Evidence suggests that early‐life cannabinoid exposure influence multiple developmental processes, extending beyond neurodevelopmental outcomes to potentially affect placental function ...
Luis Gustavo A. Patrone, Luciane H. Gargaglioni   +1 more
wiley   +1 more source

Elevational variation in heart mass and suppression of hypoxia‐induced right ventricle hypertrophy in Andean leaf‐eared mice (Phyllotis)

The Journal of Physiology, EarlyView.
Abstract figure legend In lowland mammals that ascend to high elevation, hypoxia‐induced changes in the pulmonary circulation can give rise to hypoxic pulmonary hypertension (HPH) and associated right‐ventricle (RV) hypertrophy. Andean mice with broad elevational ranges have greater heart mass relative to body size at higher elevations, but they ...
Naim M. Bautista, Nathanael D. Herrera, Marcial Quiroga‐Carmona, Chandrasekhar Natarajan, Adriana Rico‐Cernohorska, Jorge Salazar Bravo, Graham R. Scott, Guillermo D'Elía, Zachary A. Cheviron, Jay F. Storz   +9 more
wiley   +1 more source

The detailed profile of congenital heart diseases in 254 children with Down syndrome in Saudi Arabia

The Cardiothoracic Surgeon
Background Down syndrome is the most common chromosomal abnormality in humans. It is associated with several congenital anomalies, including a spectrum of congenital heart diseases.
Naif Alkhushi
doaj   +1 more source

Surgical Ventricular Septal Defect Repair

JACC: Case Reports
Ventricular septal defects (VSDs), the most common of congenital heart defects, vary widely in anatomy and size. Surgical treatment of very large VSDs can be challenging because no clear recommendations exist about which defects can undergo biventricular
Emmanuelle Fournier, MD, Bastien Provost, MD, Alice Dirickx, MD, Estibaliz Valdeolmillos, MD, Gregoire Albenque, MD, Clément Batteux, MD, Viktoria Weixler, MD, PhD, Sébastien Hascöet, MD, PhD, Emre Belli, MD, PhD   +8 more
doaj   +1 more source

35 Individuals With HUWE1‐Related Neurodevelopmental Disorder and Suggested Clinical Evaluations

American Journal of Medical Genetics Part A, Volume 200, Issue 9, Page 2010-2018, September 2026.
ABSTRACT HUWE1 (HECT, UBA, and WWE Domain Containing E3 Ubiquitin Protein Ligase1, OMIM 300697), located at Xp11.22, encodes a ubiquitin ligase that is highly conserved across species. Genetic variants in HUWE1 described in multiple independent studies cause X‐linked intellectual disability, including in the patients identified by Juberg, Marsidi, and ...
Mindy H. Li, Deziree L. Coleman, Kelsey Hogan, Danielle Luz, Lindsay Bhandari, Newell Belnap, Tiffany Busa, Charles Coutton, Klaus Dieterich, Svetlana Gorokhova, Clara Hildebrandt, Rachel Logan, Milena Mariani, Manuela Morleo, Vincenzo Nigro, John Pappas, Rachel Rabin, Kelly Schoch, Angelo Selicorni, Vandana Shashi, Rebecca Spillmann, Jennifer Sullivan, Charlotte Tardy, Samantha A. Schrier Vergano, Brock Grill, Kristin Baranano   +25 more
wiley   +1 more source

Long‐Term Follow Up of Two Patients With Variants in the Cluster 1031‐1159 of TRRAP Gene: Expanding the Phenotype of Developmental Delay With or Without Dysmorphic Facies and Autism

American Journal of Medical Genetics Part A, Volume 200, Issue 9, Page 2099-2105, September 2026.
ABSTRACT The transformation/transcription domain‐associated protein (TRRAP) gene encodes a large multidomain protein, a member of the phosphatidylinositol 3‐kinase‐related kinase (PIKK) family. TRRAP is a component of the histone acetyltransferase (HAT) complex, and it plays an important role in gene transcription, DNA repair, and cell‐cycle regulation.
Roseli Maria Zechi‐Ceide, Vinicius Contrucci Dantas Segarra, Siulan Vendramini‐Pittoli, Henrique Regonaschi Serigatto, Luiza Virmond, Heloisa Marcelina da Cunha Palhares, Fernanda Jehee, Ana Cristina Victorino Krepischi, Carla Rosenberg, Carlos Henrique Paiva Grangeiro, Nancy Mizue Kokitsu‐Nakata   +10 more
wiley   +1 more source

Co‐Occurring Non‐Cardiac Congenital Anomalies Among Cases With Congenital Heart Defects

American Journal of Medical Genetics Part A, Volume 200, Issue 9, Page 1953-1972, September 2026.
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, Yves Alembik, Marie‐Paule Roth   +2 more
wiley   +1 more source

Perventricular Muscular Ventricular Septal Defect (VSD) Closure under Epicardial Echocardiography Guidance: A Case Report

Journal of Tehran University Heart Center, 2017
Ventricular septal defects (VSDs) are among the most common congenital cardiac lesions. Large defects at apicomuscular regions, especially in young patients, are far from accessible to surgeons for conventional surgery.
Akbar Molaei, Abbas Afrasiabi, Eisa Bilejani, Mahmud Samadi   +3 more
doaj  

Perventricular device closure of the ventricular septal defects in children-first experience in the United Arab Emirates

Journal of Cardiothoracic Surgery
Background Ventricular septal defect (VSD) is the most common congenital cardiac malformation, accounting for approximately 30% of congenital heart defects.
Aleksandr Omelchenko, Neerod Kumar Jha, Nishant Shah, Antoine AbdelMassih, Juan Pablo Montiel, Benedict Raj Rajkumar   +5 more
doaj   +1 more source