Results 71 to 80 of about 277,988 (265)

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

A Comprehensive In Silico Analysis on the Structural and Functional Impact of SNPs in the Congenital Heart Defects Associated with NKX2-5 Gene—A Molecular Dynamic Simulation Approach

PLoS ONE, 2016
Congenital heart defects (CHD) presented as structural defects in the heart and blood vessels during birth contribute an important cause of childhood morbidity and mortality worldwide.
Firoz Abdul Samad, B. Suliman, S. H. Basha, T. Manivasagam, M. Essa   +4 more
semanticscholar   +1 more source

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

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

Profile and risk factors for congenital heart defects: A study in a tertiary care hospital

Annals of Pediatric Cardiology, 2016
Introduction: Congenital heart defects (CHDs) are an important cause of mortality and morbidity in children representing a major global health burden. It is thus important to determine their prevalence and spectrum and identify risk factors associated ...
S. Abqari, Akash Gupta, T. Shahab, Rabbani Mu, SManazir Ali, U. Firdaus   +5 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

Mental Health Treatment in Adults with Congenital Heart Disease in Germany: An Online, Cross-Sectional Study of Status, Needs, and Treatment Reasons

Journal of Cardiovascular Development and Disease
Improved medical treatments have extended survival and life expectancy in adults with congenital heart defects (ACHD), placing greater emphasis on psychosocial health.
Anna-Lena Ehmann, Emily Schütte, Janina Semmler, Felix Berger, Ulrike M. M. Bauer, Katharina Schmitt, Constanze Pfitzer, Paul C. Helm   +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

Pentoxifylline dose finding trial in preterm neonates with suspected late onset sepsis (PTX‐trial)

British Journal of Clinical Pharmacology, EarlyView.
Aim The aim of this study (PTX‐trial) is to determine the optimal dose of pentoxifylline (PTX) in preterm neonates (gestational age < 30 weeks) with (suspected) late onset sepsis (LONS). Methods The PTX‐trial is a prospective multicentre open‐label sequential dose‐optimization study with an adapted continual reassessment method.
Serife Kurul, H. Rob Taal, Jan Mazela, Ryszard Lauterbach, Irwin K. M. Reiss, Karel Allegaert, Robert B. Flint, Sinno H. P. Simons   +7 more
wiley   +1 more source