Results 101 to 110 of about 366,922 (396)

Nance‐Horan Syndrome: Further Delineation of the Affected Male and the Female Carrier Phenotypes

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Nance‐Horan syndrome (NHS; OMIM 302350) is a rare, X‐linked syndrome characterized by bilateral congenital cataracts leading to profound vision loss, specific dental anomalies including characteristic screwdriver blade‐shaped incisors, facial anomalies, and intellectual disability.
Maria K. Haanpää, Chad R. Haldeman‐Englert, Marja Hietala, Melisa S. Tanverdi, Patrick P. Koty, Diana Brightman, Eniolami Dosunmu, Shailja Tibrewal, Savleen Kaur, Anupriya Kaur, Raj Kumar Verma, Alejandra G. de Alba Campomanes, Virginia Utz, Anne M. Slavotinek, Cynthia Curry   +14 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

Left Ventricular Noncompaction Is More Prevalent in Ventricular Septal Defect Than Other Congenital Heart Defects: A Morphological Study [PDF]

, 2020
Laís Costa Marques, Gabriel Romero Liguori, Ana Carolina Amarante Amarante Souza, Vera Demarchi Aiello   +3 more
openalex   +1 more source

Maternal folic acid supplementation and dietary folate intake and congenital heart defects

PLoS ONE, 2017
Background It has been reported that folic acid supplementation before and/or during pregnancy could reduce the risk of congenital heart defects (CHDs). However, the results from limited epidemiologic studies have been inconclusive.
B. Mao, J. Qiu, N. Zhao, Y. Shao, W. Dai, Xiaochun He, H. Cui, Xiaojuan Lin, Ling Lv, Zhongfeng Tang, Sijuan Xu, Huang Huang, Min Zhou, Xiaoying Xu, W. Qiu, Qing Liu, Yawei Zhang   +16 more
semanticscholar   +1 more source

Non‐RASopathy Genetic Syndromes Identified as the Molecular Cause of Disease in Patients Previously Diagnosed With Noonan Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Noonan Syndrome (NS) is a clinically and genetically heterogeneous condition characterized by typical facial dysmorphisms, short stature, congenital heart defects, and developmental delays. While variants in genes such as PTPN11, SOS1, and RAF1 account for most genetically confirmed cases, diagnosis is challenging due to phenotypic overlap ...
Gabriela Jeesoo Kim, Alexsandra Christianne Malaquias, Debora Romeo Bertola, Raissa Carneiro Rezende, Laurana De Polli Cellin, Lucas Vieira Lacerda Pires, Ana Maria Santillan‐Vasconez, Antônio Marcondes Lerario, Renata da Cunha Scalco, Alexander Augusto de Lima Jorge   +9 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

Descriptive Epidemiology From the Myhre Syndrome Foundation Registry: The Value of Self‐Reported Data

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is an ultrarare genetic disease characterized by short stature, distinct craniofacial features, cardiovascular and respiratory fibrosis and stenosis, neurodevelopmental delays, autism, intellectual disability, and hearing loss. The natural history of Myhre syndrome is still not fully understood due to a small patient population ...
Mary K. Young, Armelle Pindon, Maggie R. Brand, Kate Wears, Katherine H. Young, Alyssa Mendel, Michael J. Lyons   +6 more
wiley   +1 more source

Epidemiology of paediatric chronic heart failure in Germany—A population‐based analysis

ESC Heart Failure
Aims Paediatric chronic heart failure (CHF) is associated with significant morbidity. The aim of this study was to describe paediatric CHF epidemiology in Germany.
Alexej Bobrowski, Sven Klebs, Marco Alibone, Leonore Bovy, Dennis Häckl, Thilo Fleck, Brigitte Stiller   +6 more
doaj   +1 more source

Case Report: Heart aneurysm of unknown origin in a two-year-old child diagnosed in the course of Multisystem Inflammatory Syndrome in Children

Frontiers in Cardiovascular Medicine
We present a case of a 22-month-old boy with a hypokinetic and thin-walled aneurysm of the left ventricle apex. The lesion was diagnosed during routine echocardiography examination in the course of MIS-C, and its occurrence due to MIS-C is plausible ...
Dominika Mystkowska, Michal Galeczka, Wojciech Tarala, Pawel Banaszak, Joanna Sliwka, Szymon Pawlak, Roland Fiszer   +6 more
doaj   +1 more source