Results 111 to 120 of about 79,145 (303)
Evolution of the Sinus Venosus from Fish to Human
Journal of Cardiovascular Development and Disease, 2014 The sinus venosus, the cardiac chamber upstream of the (right) atrium, is a severely underinvestigated structure. Yet, its myocardium harbors the cardiac pacemaker in all vertebrates.
Bjarke Jensen +4 more
doaj +1 more source
Expanding the Phenotype of TUFM‐Related Combined Oxidative Phosphorylation Deficiency 4
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Combined oxidative phosphorylation deficiency 4 (COXPD4) is a rare mitochondrial condition caused by biallelic deleterious variants in the nuclear‐encoded gene TUFM. To date, most individuals with COXPD4 have presented with encephalopathy, hypotonia, and abnormal brain imaging. Many of the reported individuals died in infancy. We aim to expand
Noémie Villeneuve‐Cloutier +2 more
wiley +1 more source
Transient anoxia and oxyradicals induce a region-specific activation of MAPKs in the embryonic heart [PDF]
, 2018 We have previously reported in the early septating embryonic heart that electromechanical disturbances induced by anoxia-reoxygenation are distinct in atria, ventricle, and outflow tract, and are attenuated in ventricle by opening of mitochondrial KATP ...
Gardier, Stephany +3 more
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Lymphatic Abnormalities in Noonan Syndrome Extend Beyond Clinically Apparent Disease
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Lymphatic disease represents a well‐described manifestation of Noonan syndrome (NS), yet the full phenotypic spectrum remains incompletely characterized, especially in asymptomatic individuals. We conducted a cross‐sectional study including 10 individuals with NS (four with peripheral lymphedema and six without) and 10 age‐ and sex‐matched ...
Inger Norlyk Sheyanth +7 more
wiley +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Autosomal recessive loss‐of‐function variants in PPP1R13L cause an ultra‐rare cardiocutaneous syndrome characterized by rapidly progressive arrhythmogenic cardiomyopathy (ACM). PPP1R13L encodes iASPP, which has two potentially overlapping mechanisms driving ACM as both a regulator of NFκB‐mediated inflammation and a binding partner within the ...
Aaron Renberg +9 more
wiley +1 more source
Modelling the pacemaker in event-B: towards methodology for reuse
, 2012 The cardiac pacemaker is one of the system modelling problems posed to the Formal Methods community by the {\it Grand Challenge for Dependable Systems Evolution} \cite{JOW:06}.
Poppleton, Michael +1 more
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The inotropic effects of quinidine and procaine amide : an experimental study [PDF]
, 1959 Thesis (M.D.)--Boston ...
Hastings, Elliot P.
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American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Arrhythmias affect approximately half of patients with Costello syndrome (CS, OMIM # 218040), with non‐reentrant atrial tachycardia being the most common. This case describes an infant with Costello syndrome carrying the pathogenic HRAS c.34G>A (p.G12S) variant who developed early‐onset, drug‐refractory multifocal atrial tachycardia (MAT ...
Vanina Taliercio +11 more
wiley +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
Influence of Atrioventricular Nodal Reentrant Tachycardia Ablation on Right to Left Inter-atrial Conduction [PDF]
, 2005 Background: Radiofrequency (RF) catheter ablation is the procedure of choice for the potential cure of atrioventricular nodal reentrant tachycardia (AVNRT) with high success rates.
Eksik, Abdurrahman +3 more
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