Results 111 to 120 of about 48,714 (242)

Genetic Diagnoses Among Congenital Anomaly Cases in Europe: Data From the EUROCAT Network

Paediatric and Perinatal Epidemiology, EarlyView.
ABSTRACT Background Surveillance of congenital anomaly prevalence over time can identify new teratogens. Anomalies with a genetic cause are excluded from the monitoring. Objectives We examined temporal changes in the proportion of genetic diagnoses among cases with a congenital anomaly.
Jorieke E. H. Bergman, Annie Perraud, Ester Garne, Ingeborg Barisic, David Tucker, Elisa Ballardini, Lea Bruneau, Clara Cavero‐Carbonell, Ianis Cousin, Miriam Gatt, Katya Kovacheva, Anna Latos‐Bielenska, Mary O'Mahony, Isabelle Monier, Isabelle Perthus, Riccardo Pertile, Anke Rissmann, Florence Rouget, Michelle Santoro, Joanna Sichitiu, Christine Verellen‐Dumoulin, Wladimir Wertelecki, Diana Wellesley, Joan K. Morris   +23 more
wiley   +1 more source

Educational Attainment of Children With Major Congenital Anomalies During Primary School in England: A Population Cohort Study

Paediatric and Perinatal Epidemiology, EarlyView.
ABSTRACT Background Major congenital anomalies (CA) affect 2.3% of livebirths and are associated with lower educational attainment. Understanding attainment trajectories throughout primary school would inform parents, schools and organisations and help plan support.
Joachim Tan, Ayana Cant, Kate Lewis, Vincent Nguyen, Laura Gimeno, Ania Zylbersztejn, Pia Hardelid, Joan Morris, Bianca De Stavola, Katie Harron, Ruth Gilbert, on behalf of the HOPE Study Team   +11 more
wiley   +1 more source

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

Is Left Bundle Branch Pacing Feasible in Patients With Ventricular Septal Defect? [PDF]

Ann Noninvasive Electrocardiol
Luo B, Jiang L, Zhang L, Shen J.
europepmc   +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

Diagnostic imaging of ventricular septal defect in an Iranian Shall lamb. [PDF]

Vet Res Forum
Abbasi J, Mokhber Dezfouli MR, Vajhi A, Sadeghian Chaleshtori S, Dehghan Rahimabadi P, Esmailinejad MR, Zehtabvar O, Nouri M.   +7 more
europepmc   +1 more source

Respiratory Involvement in HIST1H1E‐Related Rahman Syndrome: A Case of Severe Mixed Apnea

American Journal of Medical Genetics Part A, Volume 200, Issue 4, Page 937-946, April 2026.
ABSTRACT Rahman syndrome (HIST1H1E‐related neurodevelopmental syndrome, OMIM #617537) is a rare autosomal‐dominant condition caused by truncating variants in the C‐terminal domain of the HIST1H1E gene. It is characterized by macrocephaly, hypotonia, craniofacial anomalies, and multisystem anomalies.
Nada Barakat, Marjolaine Champagne, Mathieu Bergeron, Philippe Dodin, Nadia Roumeliotis   +4 more
wiley   +1 more source

Postmyocardial Infarction Ventricular Septal Defect: Early or Delayed Surgical Repair? [PDF]

JACC Case Rep
Divya A, Dalal N, Sá MP.
europepmc   +1 more source

Clinical outcomes after nondiagnostic prenatal exome sequencing: Need for balancing reassurance and residual risks in genetic counseling

Journal of Genetic Counseling, Volume 35, Issue 2, April 2026.
Abstract The clinical application of prenatal exome sequencing (pES) for fetal structural anomalies is relatively new. Although a prenatal genetic diagnosis has been shown to have high clinical and personal utility for families, nearly 70% of pregnancies undergoing pES will receive nondiagnostic results.
Sophie Albert, Anne Swenerton, Kirsten M. Niles, Sylvie Langlois, Jessica L. Zambonin   +4 more
wiley   +1 more source

Post-acute Myocardial Infarction Complication: A Ventricular Septal Defect. [PDF]

Cureus
Rodrigues Barbosa B, Cartucho J, Duarte T, Pona AP, Seixo F.   +4 more
europepmc   +1 more source