Exome sequencing of a family with lone, autosomal dominant atrial flutter identifies a rare variation in ABCB4 significantly enriched in cases.

Background: Lone atrial flutter (AFL) and atrial fibrillation (AF) are common and sometimes consequential cardiac conduction disorders with a strong heritability, as underlined by recent genome-wide association studies that identified genetic modifiers. Follow-up family-based genetic analysis also identified Mendelian transmission of disease alleles. Three affected members were exome-sequenced for the identification of potential causative mutations, which were subsequently validated by direct sequencing in the other 3 affected members.

A G613A missense in the Hutchinson's progeria lamin A/C gene causes a lone, autosomal dominant atrioventricular block.

Background: LMNA/C mutations have been linked to the premature aging syndrome Hutchinson's progeria, dilated cardiomyopathy 1A, skeletal myopathies (such as the autosomal dominant variant of Emery-Dreifuss muscular dystrophy and limb-girdle muscular dystrophy), Charcot-Marie-Tooth disorder type 2B1, mandibuloacral dysplasia, autosomal dominant partial lipodystrophy, and axonal neuropathy. Atrioventricular block (AVB) can be associated with several cardiac disorders and it can also be a highly heritable, primitive disease. One of the most common pathologies associated with AVB is dilated cardiomyopathy (DCM), which is characterized by cardiac dilatation and reduced systolic function.

Pulmonary vein isolation as index procedure for persistent atrial fibrillation: One-year clinical outcome after ablation using the second-generation cryoballoon.

Background: No data are available about the clinical outcome of pulmonary vein isolation (PVI) as an index procedure for persistent atrial fibrillation (PersAF) ablation using the second-generation cryoballoon (CB-Adv).

Objective: The purpose of this study was to assess the 1-year efficacy of PVI as an index procedure for PersAF ablation using the novel CB-Adv.

Methods: Sixty-three consecutive patients (45 male [71.

Natamycin based sol-gel antimicrobial coatings on polylactic acid films for food packaging.

In this work a comprehensive study on a new active packaging obtained by a hybrid organic-inorganic coating with antimicrobial properties was carried out. The packaging system based on polylactic acid was realised by sol-gel processing, employing tetraethoxysilane as a precursor of the inorganic phase and polyvinyl alcohol as the organic component, and incorporating natamycin as the active agent. Films with different organic-inorganic ratios (in a range between 1:19 and 1:4) were prepared, and the amount of antimycotic entrapped was found to be modulated by the sol composition, and was between 0.

Synthesis and characterization of nanocrystalline TiO2 with application as photoactive coating on stones.

Unlabelled: Self-cleaning photocatalytic coatings for biocalcarenite stones, based on TiO2 nanoparticles obtained by sol-gel processes at different pH values and also adding gold particles, have been investigated. The selected test material is a biocalcarenite named "pietra di Lecce" (Lecce stone), outcropping in Southern Italy. Scanning electron microscopy with energy-dispersive X-ray spectroscopy, transmission electron microscopy, X-ray diffraction, and Raman investigations were carried out to characterize the TiO2 nanoparticles and coatings.