A variant in a five-generation-family with hypertrophic cardiomyopathy.

Hypertrophic cardiomyopathy (HCM) is a genetic condition with a prevalence of 1:500-1:3 000. Variants in genes encoding sarcomeric proteins are mainly responsible for the disease. gene encoding a myosin heavy chain beta, together with gene are the two most commonly affected genes.

Diastolic function evaluation in children with ventricular arrhythmia.

Premature ventricular contractions (PVC) are frequently seen in children. We evaluated left ventricular diastolic function in PVC children with normal left ventricular systolic function to detect whether diastolic function disturbances affect physical performance. The study group consisted of 36 PVC children, and the control group comprised 33 healthy volunteers.

Cardiopulmonary capacity is reduced in children with ventricular arrhythmia.

Background: Premature ventricular contractions (PVCs) are frequently seen in children and are considered benign. A substantial group of adolescents with PVCs complain about a broad range of clinical symptoms, including low exertion tolerance.

Objective: The purpose of this study was to evaluate prospectively whether ventricular arrhythmia affects physical performance in adolescents with normal left ventricular function, using a cardiopulmonary exercise test (CPET) and evaluating the electrocardiographic (ECG) characteristics of patients with PVCs with regard to exercise capacity.

Electrocardiograms in school-aged healthy Polish children - an observational study.

Background: Electrocardiographic (ECG) examination has long been used to assess cardiovascular function in clinical practice. Age-related ECG changes are observed as the cardiovascular system matures from the neonatal period to adolescence.

Aim: This study aimed to evaluate effects of sex and age on ECG parameters in healthy schoolchildren.

Assessment of the physical performance in children with asymptomatic pre-excitation.

Aims: Pre-excitation syndrome can lead to recurrent supraventricular tachycardias (SVTs) and carries a risk of sudden cardiac death (SCD). However, an underestimated consequence of antegrade conduction through an accessory pathway is fusion of intrinsic and accessory conduction that causes asynchronous activation and myocardial contraction that could be a cause for cardiac dysfunction and dilation. It is not known to what extent pre-excitation affects myocardial and physical performance in those patients.

Intracardiac atrial overdrive pacing as an alternative to extracorporeal membrane oxygenation in the treatment of cardiogenic shock due to drug refractory and incessant persistent junctional reciprocating tachycardia in a 7-month-old infant.

In the case of prolonged, undiagnosed persistent junctional reciprocating tachycardia in infants, compensatory mechanisms are exhausted leading to heart failure. However, when cardioverted to sinus rhythm patients often deteriorate due to cardiac output dependency on the higher rates. Extracorporeal membrane oxygenation (ECMO) is often used to stabilize their hemodynamic status.

Evaluation of Galectin-3 Plasma Concentration in Adolescents with Ventricular Arrhythmia.

Galectin-3 (G3) is a biomarker known as an inflammatory state exponent. The aim of this paper was to analyze the G3 in adolescents with ventricular arrhythmia (VES) in order to evaluate its impact on myocardial tissue preservation. The study group (SG) consisted of 25 VES adolescents.

Recommendations from the Association for European Paediatric and Congenital Cardiology for training in diagnostic and interventional electrophysiology.

The field of electrophysiology (EP) in paediatric cardiology patients and adults with congenital heart disease is complex and rapidly growing. The current recommendations for diagnostic and invasive electrophysiology of the working group for Cardiac Dysrhythmias and Electrophysiology of the Association for European Paediatric and Congenital Cardiology acknowledges the diveristy of European countries and centers. These training recommendations can be fulfilled in a manageable period of time, without compromising the quality of training required to become an expert in the field of paediatric and congenital EP and are for trainees undergoing or having completed accredited paediatric cardiologist fellowship.

Management of Young Athletes with Asymptomatic Preexcitation-A Review of the Literature.

Introduction: The management of young athletes with asymptomatic preexcitation remains a challenge, regardless of the progress we have made in understanding the basis of condition and developing catheter ablation procedures. The risk of sudden death, however small, yet definite, being the first symptom is determining our approach. The aim of the study was to establish the current state of knowledge regarding the management of young athletes diagnosed with asymptomatic preexcitation, by conducting a literature review.

Chromosome instabilities in resynthesized Brassica napus revealed by FISH.

Brassica napus is an allopolyploid plant, derived from spontaneous hybridization between Brassica rapa and Brassica oleracea. Intensive breeding has led to a significant reduction in genetic and phenotypic diversity within this species. Newly resynthesized hybrids from progenitor species may restore some diversity in B.

Cytogenetic and molecular genotyping in the allotetraploid Festuca pratensis × Lolium perenne hybrids.

Background: Species of the Festuca and Lolium genera, as well as intergeneric Festuca × Lolium (Festulolium) hybrids, are valuable fodder and turf grasses for agricultural and amenity purposes worldwide. Festulolium hybrids can merge in their genomes agronomically important characteristics. However, in polyploid plants, especially in allopolyploids, the hybridization of divergent genomes could contribute to various abnormalities, such as variability in chromosome number, structural rearrangements, and/or disorders in inheritance patterns.

Normative Values for Heart Rate Variability Parameters in School-Aged Children: Simple Approach Considering Differences in Average Heart Rate.

Heart rate variability (HRV) analysis is a clinical tool frequently used to characterize cardiac autonomic status. The aim of this study was to establish normative values for short-term HRV parameters by considering their main determinants in school-aged children. Five-minute electrocardiograms were taken from 312 non-athlete children (153 boys) at age of 6 to 13 years for computation of conventional time- and frequency-domain HRV parameters.

Study design and rationale for biomedical shirt-based electrocardiography monitoring in relevant clinical situations: ECG-shirt study.

Background: Today, the main challenge for researchers is to develop new technologies which may help to improve the diagnoses of cardiovascular disease (CVD), thereby reducing healthcare costs and improving the quality of life for patients. This study aims to show the utility of biomedical shirt-based electrocardiography (ECG) monitoring of patients with CVD in different clinical situations using the Nuubo® ECG (nECG) system.

Methods: An investigator-initiated, multicenter, prospective observational study was carried out in a cardiology (adult and pediatric) and cardiac rehabilitation wards.

Initial experience of catheter ablation for cardiac arrhythmias in children and adolescents at a newly built ablation centre.

Background: Catheter ablation (CA) therapy is the first-choice treatment in adults with heart rhythm disturbances. Arrhythmias in adults are mainly conditioned by coronary artery disease. Aetiology of arrhythmias in children is mostly associated with inherited heart disorders.

Exploiting repetitive sequences and BAC clones in Festuca pratensis karyotyping.

The Festuca genus is thought to be the most numerous genus of the Poaceae family. One of the most agronomically important forage grasses, Festuca pratensis Huds. is treated as a model plant to study the molecular mechanisms associated with tolerance to winter stresses, including frost.

Orthology Guided Transcriptome Assembly of Italian Ryegrass and Meadow Fescue for Single-Nucleotide Polymorphism Discovery.

Single-nucleotide polymorphisms (SNPs) represent natural DNA sequence variation. They can be used for various applications including the construction of high-density genetic maps, analysis of genetic variability, genome-wide association studies, and map-based cloning. Here we report on transcriptome sequencing in the two forage grasses, meadow fescue ( Huds.

Evidence for troponin C (TNNC1) as a gene for autosomal recessive restrictive cardiomyopathy with fatal outcome in infancy.

Restrictive cardiomyopathy is a rare form of pediatric cardiac disease, for which the known genes include MYH7, TNNT2, TNNI3, ACTC1, and DES. We describe a pediatric proband with fatal restrictive cardiomyopathy associated with septal hypertrophy and compound heterozygosity for TNNC1 mutations (NM_003280: p.A8V [c.

A Survey of Genetic Variation and Genome Evolution within the Invasive Fallopia Complex.

The knotweed taxa Fallopia japonica, F. sachalinensis and their interspecific hybrid F. × bohemica are some of the most aggressive invaders in Europe and North America and they are serious threats to native biodiversity.

Ceftriaxone-associated acute gallbladder enlargement - an unexpected diagnosis in the child with urinary tract infection.

Unlabelled: Biliary sludge and/or biliary pseudolithiasis occur in patients treated with ceftriaxone with prevalence of 3-57%. Biliary obstruction can be the cause of the acute gallbladder enlargement. It is a minor complication, that usually does not give clinical symptoms and resolves once the drug is discontinued.