Results 111 to 120 of about 2,073,380 (162)

Diâmetro atrial esquerdo médio: análise ecocardiográfica de 209 pacientes. [PDF]

, 1998
Trabalho de Conclusão de Curso - Universidade Federal de Santa Catarina, Centro de Ciências da Saúde, Departamento de Clínica Médica, Curso de Medicina, Florianópolis ...
Maestri, Rafael
core  

Elevated Nocturnal CO2 and Autonomic Dysfunction in Children With Down Syndrome

Journal of Intellectual Disability Research, EarlyView.
ABSTRACT Background Sleep‐disordered breathing (SDB) frequently complicates Down syndrome (DS). Beyond upper airway obstruction, emerging evidence suggests an autonomic nervous system (ANS) dysfunction affecting CO2 regulation. The aim of this study was to investigate nocturnal gas exchanges in children with DS and compare them to what has been ...
Jessica Taytard, Segolène Falquero, Sophie Denamur, Pierre‐Yves Boelle, Karl Leroux, Harriet Corvol, Aimé Ravel, Clotilde Mircher, Jeanne Toulas, Emmanuelle Prioux, Marie‐Anne Caillaud, Guillaume Aubertin, Hervé Walti   +12 more
wiley   +1 more source

Mitral and tricuspid valve repair in an operated case of complete atrioventricular septal defect: A surgical challenge case report!

SAGE Open Medical Case Reports
Atrioventricular canal defects constitute about 3%–5% of total congenital heart defects, with a prevalence of 0.3–0.4/1000 live births. Mitral valve defects are associated with atrioventricular canal (septal) defects in most cases.
Dhanesh Kumar, Amit Chandra, Naresh Trehan, Shital Prakash, Yatin Mehta, Manisha Mishra, Surinder Bazaz, Sanjeev Chandna   +7 more
doaj   +1 more source

Cyclin‐dependent kinase 13 is indispensable for normal mouse heart development

Journal of Anatomy, Volume 246, Issue 4, Page 616-630, April 2025.
Congenital heart disease (CHD) is the most common defect in live births. The role of cyclin‐dependent kinase (CDK13) in cardiogenesis and CHD was studied using a transgenic mouse model (Cdk13tm1b) carrying deletion of exons 3 and 4, causing loss of function.
Qazi Waheed‐Ullah, Anna Wilsdon, Aseel Abbad, Sophie Rochette, Frances Bu'Lock, Asma Ali Saed, Marc‐Phillip Hitz, J. David Brook, Siobhan Loughna   +8 more
wiley   +1 more source

Familial secundum atrial septal defect with dysrhythmia associated with web neck

The Turkish Journal of Pediatrics, 2002
Most cases of atrial septal defect occur sporadically, but a few families have the defect as a genetic abnormality. A family having familial type secundum atrial septal defect with dysrhythmia associated with web neck is reported.
Zübeyir Kiliç, Birsen Uçar, Ferruh Baş, Ener Cağri Dinleyici, Ersin Sari   +4 more
doaj  

The Evolving Landscape of CHD Genetics: A Contemporary Guide to Genetic Testing and Management

Journal of Paediatrics and Child Health, EarlyView.
ABSTRACT Congenital heart disease (CHD) is the most common birth defect, affecting an estimated 9.4/1000 infants globally. The genetics of CHD is complex, with most cases thought to have multifactorial aetiology, implicating both genetic and environmental factors.
Bridget R. O'Malley, Gary F. Sholler, Janine Smith, Gillian M. Blue   +3 more
wiley   +1 more source

Frequency and pattern of Congenital Heart Defects in children with Down’s Syndrome

Gomal Journal of Medical Sciences, 2012
Background: Patients with Down’s syndrome are prone to have congenital heart defects. This study was conducted to evaluate the frequency of various congenital heart defects in children with Down’s syndrome in Khyber Pukhtunkhwa province.
Inayatullah Khan, Taj Muhammad
doaj  

Long-Term Follow-Up of Iatrogenic Atrial Septal Defect after Percutaneous Mitral Balloon Valvuloplasty

, 2011
During percutaneous mitral balloon valvuloplasty, the Inoue method leaves patients with an iatrogenic atrial septal defect. In this study, we evaluated the factors affecting the development of iatrogenic atrial septal defect and searched for the possible
Demirkan, Burcu, Sasmaz, Hatice, Guray, Yesim, Yilmaz, Mehmet Birhan, Korkmaz, Sule   +4 more
core   +1 more source

Benchmarking commercial large language models for gene–disease–phenotype extraction from full‐text human genetics literature

Quantitative Biology, Volume 14, Issue 4, December 2026.
Abstract Manual curation of gene–disease–phenotype relationships from the human genetics literature is a persistent bottleneck for maintaining its bioinformatics databases. Whereas large language models (LLMs) offer a promising alternative, there is currently no systematic benchmark that evaluates whether state‐of‐the‐art commercial LLMs can perform ...
Danqing Yin, Matthew Ka Siu Leung, Darren Wan Ho Pun, Fiona Haixin Chen, Julie Yujin Kwon, Xinyi Lin, Joshua W. K. Ho   +6 more
wiley   +1 more source

Atrial septal defects

, 2016
Secundum atrial septal defects, such as ostium secundum defect, sinus venosus defect, and patent foramen ovale, are discussed. Indications of closure and the recommendations of ACC/AHA and ESC are presented.
Bernard J. Gersh, Demosthenes G. Katritsis, A. John Camm   +2 more
core   +1 more source