Clinical and molecular characteristics of carnitine-acylcarnitine translocase deficiency: Experience with six patients in Guangdong China

This report describes the clinical characteristics, biochemical findings and molecular analysis of SLC25A20 gene of patients with CACTD in Guangdong. And our results show that the c.199-10T>G is likely the most common variant of CACTD in Guangdong population as it accounts for 83% (10/12) of the observed mutant alleles. Individuals with the c.199-10T>G genotype had a severe CACTD phenotype.
Source: Clinica Chimica Acta - Category: Laboratory Medicine Source Type: research

Related Links:

Condition:   Cardiac Arrhythmia Intervention:   Device: Alivecor recording Sponsor:   Blackpool Teaching Hospitals NHS Foundation Trust Recruiting
Source: ClinicalTrials.gov - Category: Research Source Type: clinical trials
Objective: Cardiac catheter cryoablation is a safer alternative to radiofrequency ablation for arrhythmia treatment, but electrophysiological (EP) effects during and after freezing are not adequately characterized. The goal of this study was to determine transient and permanent temperature induced EP effects, during and after localized tissue freezing. Methods: Conduction in right (RV) and left ventricles (LV) was studied by optical activation mapping during and after cryoablation in paced, isolated Langendorff-perfused porcine hearts. Cryoablation was performed endocardially (n=4) or epicardially (n=4) by a cryoprobe cool...
Source: IEEE Transactions on Biomedical Engineering - Category: Biomedical Engineering Source Type: research
ConclusionOur findings support the development of Rg2 as a promising anti-arrhythmic drug with less side effects for clinic use.Graphical abstract
Source: Journal of Ginseng Research - Category: Complementary Medicine Source Type: research
AbstractPurpose of reviewThis review summarizes the clinical characteristics and updated outcomes of primary pediatric cardiomyopathies including dilated (DCM), hypertrophic (HCM), and restrictive cardiomyopathy (RCM), and briefly discusses left ventricular non-compaction (LVNC) and arrhythmogenic cardiomyopathy (ACM), primarily arrythmogenic right ventricular cardiomyopathy (ARVC).Recent findingsPediatric cardiomyopathies are diseases of the heart muscle with an estimated annual incidence of 1.1 –1.5 cases per 100,000. They are progressive in nature and are frequently caused by a genetic mutation causing a structura...
Source: Current Treatment Options in Cardiovascular Medicine - Category: Cardiology Source Type: research
Mutations in several genes encoding ion channels can cause the long-QT (LQT) syndrome with cardiac arrhythmias, syncope and sudden death. Recently, mutations in some of these genes were also identified to cause epileptic seizures in these patients, and the sudden unexplained death in epilepsy (SUDEP) was considered to be the pathologic overlap between the two clinical conditions. For LQT-associated KCNQ1 mutations, only few investigations reported the coincidence of cardiac dysfunction and epileptic seizures. Clinical, electrophysiological and genetic characterization of a large pedigree (n=241 family members) with LQT s...
Source: Frontiers in Neurology - Category: Neurology Source Type: research
AbstractPurpose of the ReviewRecently, several large randomized studies and recommendations regarding patient blood management (PBM) in cardiac surgery were published. This review summarizes the current evidence relating to modern strategies in PBM from the perspective of the cardiovascular anesthesiologist.Recent FindingsPreoperative anemia should be early detected and adequately managed. In patients with intake of anticoagulants or platelet inhibitors, timely and specific stopping should be respected. Specific modification of cardiopulmonary bypass (CPB) systems aiming to reduce hemodilution and conserve patients ’...
Source: Current Anesthesiology Reports - Category: Anesthesiology Source Type: research
Publication date: October 2019Source: Safety Science, Volume 118Author(s): Oliver Faust, Edward J. Ciaccio, Arshad Majid, U. Rajendra AcharyaAbstractIn this paper we propose a hybrid decision-making process for medical diagnosis. The hypothesis tested is that a deep learning system can provide real-time monitoring of Atrial Fibrillation (AF), a prevalent heart arrhythmia, and a human cardiologist will then verify the results and reach a diagnosis. The verification step adds the necessary checks and balances to increase the safety of the computer-based diagnostic process.In order to test hybrid-decision making, we created a...
Source: Safety Science - Category: Occupational Health Source Type: research
Introduction: Evidence is increasing that epicardial adipose tissue (EAT) is associated with coronary atherosclerosis and arrhythmias. Importantly, it appears that influence is greatest from the volume of localised EAT. However EAT analysis requires either semi-automated derived total EAT volume only or very time-consuming manual segmentation around particular structures of interest. We sought to determine whether simple axial linear measurements correlate with manually segmented regional EAT volumes or whether the dispersal of EAT is too variable between individuals.
Source: Heart, Lung and Circulation - Category: Cardiology Authors: Tags: 322 Source Type: research
Background: Speckle tracking strain echocardiography (STE), namely alterations in left ventricular (LV) global longitudinal strain (GLS) and mechanical dispersion (MD), may identify patients with a predilection for ventricular arrhythmias (VA) in non ischaemic cardiomyopathy (NICM).
Source: Heart, Lung and Circulation - Category: Cardiology Authors: Tags: 320 Source Type: research
Introduction: Epicardial adipose tissue (EAT) has been associated with both coronary atherosclerosis and arrhythmias. Our RMH group has recently shown that localised right atrial appendage (RAA) EAT correlates with both RA electrical conduction velocities and RAA adiposity on histology. Most EAT studies only quantify total EAT using semi-automated software without regional assessment. We sought to determine whether RAA EAT volume is just a reflection of total EAT or accumulates variably between individuals.
Source: Heart, Lung and Circulation - Category: Cardiology Authors: Tags: 313 Source Type: research
More News: Arrhythmia | China Health | Genetics | Laboratory Medicine | Perinatology & Neonatology | Respiratory Medicine