Results 101 to 110 of about 345,553 (334)

Atrioventricular canal defect and genetic syndromes: the unifying role of sonic hedgehog [PDF]

, 2019
The atrioventricular canal defect (AVCD) is a congenital heart defect (CHD) frequently associated with extracardiac anomalies (75%). Previous observations from a personal series of patients with AVCD and "polydactyly syndromes" showed that the distinct ...
Baban, A, Calcagni, G, Dallapiccola, B, De Luca, A, Dentici, M L, Digilio, M C, Marino, B, Pugnaloni, F, Tartaglia, M, Versacci, P   +9 more
core   +1 more source

Risk of Congenital Heart Defects after Ambient Heat Exposure Early in Pregnancy

Environmental Health Perspectives, 2016
Background: Congenital heart defects may be environmentally related, but the association with elevated ambient temperature has received little attention. Objectives: We studied the relationship between outdoor heat during the first trimester of pregnancy
N. Auger, W. Fraser, R. Sauve, M. Bilodeau-Bertrand, T. Kosatsky   +4 more
semanticscholar   +1 more source

Ectopia cordis : a report of two cases in Cameroon [PDF]

, 2014
This article reports two cases of ectopia cordis in two children aged one day and twenty months respectively. A one day old newborn had complete thoracic ectopia cordis associated with an internal cardiac defect and severe thoracic and abdominal wall ...
Chelo, David, Koki Ndombo, Paul O., Mbassi Awa, Hubert Desire, Menanga, Alain P., Nde Kamgne, M., Ngo Um, Suzanne, Nguefack Dongmo, Felicitee   +6 more
core   +4 more sources

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

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

Proximal femoral focal deficiency : a case report [PDF]

, 2008
Proximal Femoral Focal Deficiency (PFFD) is a rare and complex congenital anomaly (1:50,000-200,000 population) that results in varying degrees of femoral hypoplasia with limb shortening and pelvic abnormalities.
Chircop, Marcelle, Ellul, Marthese, Grech, Victor E., Grixti, Charles J.   +3 more
core  

Exogenous WNT5A and WNT11 proteins rescue CITED2 dysfunction in mouse embryonic stem cells and zebrafish morphants [PDF]

, 2019
Mutations and inadequate methylation profiles of CITED2 are associated with human congenital heart disease (CHD). In mouse, Cited2 is necessary for embryogenesis, particularly for heart development, and its depletion in embryonic stem cells (ESC) impairs
AC Fahed, AC Michell, B Bamforth, B Li, B Xu, BG Bruneau, C-M Chen, CA Eisenberg, D Fraidenraich, D Sabour, ED Cohen, EY Chen, H Mori, H Thomas, I Pacheco-Leyva, J Bakkers, JA Bisson, JA Gaspar, JP Pinto, JPM Barbera, K Meganathan, KR Kranc, M Sahara, M Xu, MV Kuleshov, P Andre, P Choudhry, P Hu, Q Li, S Bhattacharya, S Liu, S Mazzotta, S Sperling, S Ueno, S Zaidi, S-W Cha, SD Bamforth, ST MacDonald, ST MacDonald, T Tan, V Kouskoff, V Wagh, VK Khodiyar, WJ Weninger, Y Liu, Z Yin   +45 more
core   +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

Chromosome 3q22.2‐q26.2 Interstitial Deletion in a Patient With Wisconsin Syndrome, Blepharophimosis‐Ptosis‐Epicanthus Inversus Syndrome, Dandy‐Walker Malformation, Pierre Robin Sequence, and Recurrent Infections

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Wisconsin syndrome is a very rare genetic condition characterized by coarse facies, prominent nasal tip, bushy high arched/upsweeping eyebrows, and a full/everted lower lip. Deletion of chromosome 3q24q25 region is considered critical for its manifestation.
Pankaj Prasun, Sonja Henry, Vivek Balasubramaniam   +2 more
wiley   +1 more source

Features of the structure of heart [PDF]

, 2017
Introduction. Knowledge of century features of a structure of heart of newborns is necessary for diagnostics and treatment of defects of heart, in connection with the high level of birth rate of children with defects of heart.
Moskalenko, E.A.
core