Results 71 to 80 of about 172,801 (303)

Marfan Syndrome Associated With Intellectual Disability and Behavioral Anomalies: Further Evidence for the Effect of Compound Heterozygous Variants in FBN1 on Phenotypic Severity

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Marfan syndrome (MFS) is a rare connective tissue disorder characterized by involvement of the cardiovascular, ocular, and musculoskeletal systems. Pathogenic variants in FBN1 cause most of the MFS cases; however, intellectual disability (ID) is rarely observed. A non‐consanguineous Pakistani family with four affected individuals was recruited.
Azmatullah Khan, Naseebullah Kakar, Ainullah Kakar, Malte Spielmann, Sajid Malik   +4 more
wiley   +1 more source

Percutaneous pulmonary valve implantation in a patient with congenitally corrected transposition of the great arteries: a case report

Journal of Medical Case Reports
Background Percutaneous pulmonary valve implantation has become an attractive method of dysfunctional right ventricle outflow tract treatment. Case presentation We describe a unique case of a 20-year-old Caucasian male patient with a complex cyanotic ...
Michal Kapalka, Michal Galeczka, Michal Krawiec, Roland Fiszer   +3 more
doaj   +1 more source

Prenatal diagnosis and treatment planning of congenital heart defects—possibilities and limits [PDF]

, 2018
Background: Newborns with hypoplastic left heart syndrome (HLHS) or right heart syndrome or other malformations with a single ventricle physiology and associated hypoplasia of the great arteries continue to be a challenge in terms of survival.
Carrel, Thierry, Meyer-Wittkopf, Matthias, Nelle, Mathias, Pavlovic, Mladen, Raio, Luigi, Surbek, Daniel   +5 more
core  

3D printing is a transformative technology in congenital heart disease [PDF]

, 2018
Survival in congenital heart disease has steadily improved since 1938, when Dr. Robert Gross successfully ligated for the first time a patent ductus arteriosus in a 7-year-old child.
Anwar, Anwar, Barach, Bernhard, Bhatla, Biglino, Biglino, Binder, Boneva, Borrello, Botto, Brown, Bucher, Byrne, Chaowu, Conti, Costello, Dearani, Deferm, Duan, Duan, Erikssen, Fan, Farooqi, Farooqi, Farooqi, Fleming, Fukunishi, Garekar, Gaynor, Gentles, Giamberti, Giannopoulos, Giroud, Gosnell, Grant, Green, Hadeed, Hermsen, Hoffman, Holst, Holst, Hu, Jacobs, Jana, Javan, Jonas, Kappetein, Kapur, Khairy, Kiraly, Kirklin, Kolli, Kotsis, Kung, Lee, Lee, Little, Lloyd-Jones, Mahle, Mahmood, Mannoor, Maragiannis, Markert, Markstedt, Mashari, Meier, Michael, Mitsouras, Moons, Moore, Morrison, Muraru, Ngan, Noecker, Olivieri, Olivieri, O’Brien, O’Neill, Pentecost, Poterucha, Randazzo, Rehder, Riesenkampff, Ripley, Rodriguez-Paz, Ryan, Saeed, Samuel, Santos dos, Schievano, Schmauss, Shah, Smith, Sodian, Sodian, Sutcliffe, Tabriz, Tack, Taylor, Valverde, VanKoevering, Vukicevic, Vukicevic, Vukicevic, Wang, Wang, Warnes, Warnes, Warnes, Whitlock, Wilasrusmee, Williams, Witschey, Yoo, Yoo, Zopf, Zweifel   +117 more
core   +3 more sources

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

Quality of life in pediatric patients on a paracorporeal ventricular assist device with a novel mobile driving system

JHLT Open
Background: EXCOR ventricular assist device (VAD) is the gold standard circulatory support for children with end-stage heart failure. Until recently, the only available driving unit was the stationary Ikus.
Oliver Miera, Eugen Sandica, Nikolaus A. Haas, Martin Schweiger, Brigitte Stiller, Rainer Kozlik-Feldmann, Maria-Helena Perez, Ina Michel-Behnke, Katharina R.L. Schmitt, Stephan Schubert, Daniel Zimpfer   +10 more
doaj   +1 more source

Comparison of Two Measurement Devices for Pulse Wave Velocity in Children: Which Tool Is Useful to Detect Vascular Alterations Caused by Overweight?

Frontiers in Pediatrics, 2019
Vascular alterations may lead to manifest cardiovascular disease in future life. There is a tremendous time delay between the onset and obvious clinical appearance of vascular alterations.
Julia Elmenhorst, Heidi Weberruss, Martina Mayr, Karin Pfister, Renate Oberhoffer, Renate Oberhoffer   +5 more
doaj   +1 more source

Swiss Adult Congenital HEart disease Registry (SACHER) - rationale, design and first results. [PDF]

, 2017
In 2013, a prospective registry for adults with congenital heart disease (CHD) was established in Switzerland, providing detailed data on disease characteristics and outcomes: Swiss Adult Congenital HEart disease Registry (SACHER).
Attenhofer Jost, C., Auf der Maur, C., Bonassin, F., Bouchardy, J., Engel, R., Gabriel, H., Greutmann, M., Kuen, H.P., Oxenius, A., Rutz, T., Santos Lopes, B., Schwerzmann, M., Schwitz, F., Seeliger, T., Stambach, D., Tobler, D., Wustmann, K.   +16 more
core   +1 more source

3D Hydrogel Cell Cultures and Their Biomedical Applications

Advanced NanoBiomed Research, EarlyView.
The review highlights the advantages of hydrogel‐based 3D cell cultures over traditional 2D models. These hydrogels closely mimic natural cellular environments, improving research in tissue engineering, drug discovery, cancer studies, and neuroscience.
Tri Lan Thai, Arushi Manchanda, Sarah L. Higginbottom, Estrella Sanz Rodriguez, Richard Wilson, Eva Tomaskovic‐Crook, Jeremy M. Crook, Brett Paull   +7 more
wiley   +1 more source

Sex differences in publication volume and quality in congenital heart disease: are women disadvantaged?

Open Heart, 2019
Background Women are underrepresented in leading medical positions and academia. The gender-gap in authorship of congenital heart disease (CHD) publications remains unknown.
Michael A Gatzoulis, Gerhard Paul Diller, Aleksander Kempny, Sophie van Doren, Margarita Brida, Sonya V Babu-Narayan, Ulrike M M Bauer, Helmut Baumgartner   +7 more
doaj   +1 more source