Results 91 to 100 of about 87,571 (310)
Rupture of a giant cardiac hydatid cyst in the left ventricular free wall: successful surgical management of a rare entity [PDF]
Hydatid cyst of heart is a rare but potentially fatal site of pathology, especially left ventricular free wall. We managed a successful surgical treatment on a case of a 24 year old man who had a giant cardiac hydatid cyst (71 x 64 mm) that ruptured left
حسینیان, عدالت +6 more
core
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT U2 small nuclear RNA auxiliary factor 2 (U2AF2) is an essential pre‐mRNA splicing factor involved in the early stages of pre‐mRNA splicing. To date, multiple individuals have been reported with predominantly heterozygous missense variants presenting intellectual disability, speech and motor delays, seizures, hypotonia, and thin or hypoplastic ...
Amanda Toledo +3 more
wiley +1 more source
, 2019 Introduction: Hypoplastic Left Heart Syndrome (HLHS) encompasses a spectrum of cardiac malformations characterized by underdevelopment of the left heart structures and aorta that, despite the low incidence among cases of congenital heart disease have ...
Carvalho, Bárbara Justo +1 more
core +1 more source
Journal of Cardiovascular Development and Disease, 2019 It is now established that the entity often described as an “aortopulmonary septal complex„ is better considered as an “outflow tract septal complex„.
Robert H. Anderson +3 more
doaj +1 more source
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Arthrogryposis multiplex congenita (AMC) is defined as the presence of joint contractures affecting at least two body regions at birth. Three different ERGIC1 variants have been reported in individuals with AMC. Here, we report on a 16‐year‐old male with a homozygous ERGIC1 c.250+1G>A variant that was classified as a variant of uncertain ...
Lauren Kerr +7 more
wiley +1 more source
Septation of the Intrapericardial Arterial Trunks in the Early Human Embryonic Heart
Chinese Medical Journal, 2018 Background: Outflow tract (OFT) septation defects are a common cause of congenital heart disease. Numerous studies have focused on the septation mechanism of the OFT, but have reported inconsistent conclusions. This study, therefore, aimed to investigate
Yan-Ping Yang +4 more
doaj +1 more source
Co‐Occurring Non‐Cardiac Congenital Anomalies Among Cases With Congenital Heart Defects
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Cases with congenital heart defects (CHD) often have other associated anomalies. The aim of this investigation was to assess the prevalence and the types of co‐occurring anomalies in CHD in a well‐defined population. The anomalies co‐occurring with CHD were ascertained in all live births, stillbirths and terminations of pregnancy for fetal ...
Claude Stoll +2 more
wiley +1 more source
Stem Cell Research, 2016 Mef2c Anterior Heart Field (AHF) enhancer is activated during embryonic heart development and it is expressed in multipotent cardiovascular progenitors (CVP) giving rise to endothelial and myocardial components of the outflow tract, right ventricle and ...
Javier Linares +7 more
doaj +1 more source
Uncovering Cystic Fibrosis Carrier: Insights From a Heterozygous CFTR‐F508del Rabbit Model
International Forum of Allergy &Rhinology, EarlyView.ABSTRACT Background Chronic rhinosinusitis (CRS) is a heterogeneous inflammatory disorder frequently associated with impaired mucociliary clearance and bacterial infection. Individuals carrying a single cystic fibrosis transmembrane conductance regulator (CFTR) mutation exhibit partial CFTR dysfunction and are increasingly recognized as being at risk ...
Do‐Yeon Cho +9 more
wiley +1 more source
Revista Colombiana de Cardiología, 2018 In the era of primary percutaneous coronary intervention, mechanical complications after acute myocardial infarction are extremely rare, with an incidence of less than 0.5%. Rupture of the ventricular septum is the least frequent occurrence.
Eduardo Josué Flores-Umanzor +4 more
doaj +1 more source