MYH7 p.(Arg1712Gln) is pathogenic founder variant causing hypertrophic cardiomyopathy with overall relatively delayed onset.

Introduction: The MYH7 c.5135G > A p.(Arg1712Gln) variant has been identified in several patients worldwide and is classified as pathogenic in the ClinVar database.

Understanding the Impact of the Three-Dimensional Junction Thickness of Electrospun Bipolar Membranes on Electrochemical Performance.

The use of electrospun bipolar membranes (BPMs) with an interfacial three-dimensional (3D) junction of entangled nano-/microfibers has been recently proposed as a promising fabrication strategy to develop high-performance BPMs. In these BPMs, the morphology and physical properties of the 3D junction are of utmost importance to maximize the membrane performance. However, a full understanding of the impact of the junction thickness on the membrane performance is still lacking.

Entanglement-Enhanced Water Dissociation in Bipolar Membranes with 3D Electrospun Junction and Polymeric Catalyst.

With the use of bipolar membranes (BPMs) in an expanding range of applications, there is an urgent need to understand and improve the catalytic performance of BPMs for water dissociation, as well as to increase their physical and chemical stability. In this regard, electrospinning BPMs with 2D and 3D junction structures have been suggested as a promising route to produce high-performance BPMs. In this work, we investigate the effect of entangling anion and cation exchange nanofibers at the junction of bipolar membranes on the water dissociation rate.

Non-steady diffusion and adsorption of organic micropollutants in ion-exchange membranes: effect of the membrane thickness.

There is no efficient wastewater treatment solution for removing organic micropollutants (OMPs), which, therefore, are continuously introduced to the Earth's surface waters. This creates a severe risk to aquatic ecosystems and human health. In emerging water treatment processes based on ion-exchange membranes (IEM), transport of OMPs through membranes remains unknown.

The Acid-Base Flow Battery: Sustainable Energy Storage via Reversible Water Dissociation with Bipolar Membranes.

The increasing share of renewables in electric grids nowadays causes a growing daily and seasonal mismatch between electricity generation and demand. In this regard, novel energy storage systems need to be developed, to allow large-scale storage of the excess electricity during low-demand time, and its distribution during peak demand time. Acid-base flow battery (ABFB) is a novel and environmentally friendly technology based on the reversible water dissociation by bipolar membranes, and it stores electricity in the form of chemical energy in acid and base solutions.

Experimental Evaluation of Anion Exchange Membranes for the Desalination of (Waste) Water Produced after Polymer-Flooding.

Electrodialysis (ED) has been recently proposed to desalinate polymer-flooding produced water (PFPW), a byproduct stream from the oil and gas industry rich in charged polymers. However, process performance is limited by fouling occurring on the ion-exchange membranes, particularly on the anionic ones (AEMs). Thus, this study aimed to correlate the properties of different AEMs with their performance while desalinating PFPW, ultimately evaluating their significance when fouling is to be minimized and operation improved.

Homozygous damaging SOD2 variant causes lethal neonatal dilated cardiomyopathy.

Background: Idiopathic dilated cardiomyopathy (DCM) is recognised to be a heritable disorder, yet clinical genetic testing does not produce a diagnosis in >50% of paediatric patients. Identifying a genetic cause is crucial because this knowledge can affect management options, cardiac surveillance in relatives and reproductive decision-making. In this study, we sought to identify the underlying genetic defect in a patient born to consanguineous parents with rapidly progressive DCM that led to death in early infancy.

Pathogenic effect of a TGFBR1 mutation in a family with Loeys-Dietz syndrome.

Background: Thoracic aortic aneurysms and dissections (TAAD) may have a heritable cause in up to 20% of cases. We aimed to investigate the pathogenic effect of a TGFBR1 mutation in relation to TAAD.

Methods: Co-segregation analysis was performed followed by functional investigations, including myogenic transdifferentiation.

Feedback-Driven Assembly of the Axon Initial Segment.

The axon initial segment (AIS) is a unique neuronal compartment that plays a crucial role in the generation of action potential and neuronal polarity. The assembly of the AIS requires membrane, scaffolding, and cytoskeletal proteins, including Ankyrin-G and TRIM46. How these components cooperate in AIS formation is currently poorly understood.

TRIM46 Organizes Microtubule Fasciculation in the Axon Initial Segment.

Selective cargo transport into axons and dendrites over the microtubule network is essential for neuron polarization. The axon initial segment (AIS) separates the axon from the somatodendritic compartment and controls the microtubule-dependent transport into the axon. Interestingly, the AIS has a characteristic microtubule organization; it contains bundles of closely spaced microtubules with electron dense cross-bridges, referred to as microtubule fascicles.

Fate and removal of trace pollutants from an anion exchange spent brine during the recovery process of natural organic matter and salts.

The results of this sampling campaign on pilot scale processes aim to evaluate the occurrence and behavior of trace organic micro-pollutants and metal elements during anion exchange treatment of surface water and the subsequent treatment of generated spent brine with two types of electrodialysis membrane pairs. This knowledge is relevant to assess the quality and reusability of secondary products created during brine treatment; specifically the excess of sodium chloride to be recycled onsite and the natural organic matter, mostly consisting of humic substances, which find multiple applications in the agricultural industry. This study highlights that (1) the attachment mechanism of organic micro-pollutants to anion exchange resin occurs through electrostatic interaction and the subsequent transfer through ion exchange membranes is restricted by size exclusion; and (2) the complexation of trace metals compounds with the natural organic matter partly explains their removal by anion exchange.

Expert consensus recommendations on the cardiogenetic care for patients with thoracic aortic disease and their first-degree relatives.

Background: Thoracic aortic aneurysm (TAA) is a potentially life-threatening disorder with a strong genetic component. The number of genes implicated in TAA has increased exponentially over the last decade. Approximately 20% of patients with TAA have a positive family history.

Yield of family screening in patients with isolated bicuspid aortic valve in a general hospital.

Aim: To determine the prevalence of unidentified bicuspid aortic valve (BAV) or aortic dilatation (>40mm) in first degree relatives (FDR) of patients with isolated BAV in a general hospital.

Methods And Results: Patients with isolated BAV received information advising cardiac screening of their FDR. Referred and screened were 134 FDR of 54 adult index patients with isolated BAV (median 2 per index patient).

Risk Factors for Intracranial Aneurysm Rupture: A Systematic Review.

Background: Intracranial aneurysm rupture prediction is poor, with only a few risk factors for rupture identified and used in clinical practice.

Objective: To provide an overview of all the risk factors (including genetic, molecular, morphological, and hemodynamic factors) that have potential for use in clinical practice.

Methods: We systematically searched PubMed and EMBASE and focused on factors that can be easily assessed in clinical practice, might be used for rupture prediction in clinical practice, and/or are potential targets for further research.

Cinnamaldehyde, Carvacrol and Organic Acids Affect Gene Expression of Selected Oxidative Stress and Inflammation Markers in IPEC-J2 Cells Exposed to Salmonella typhimurium.

Essential oils and organic acids are used as feed additives to improve health status and reduce colonization with pathogens. Although bactericidal in vitro, concentrations achieved in the animal gut are probably not lethal to pathogens. The aim of this study was to investigate the effects of cinnamaldehyde, carvacrol and cinnamic, lactic and propionic acids on the ability of Salmonella typhimurium ATCC 14028 (ST) to invade intestinal epithelial cells (IPEC-J2) and on the expression levels of immune related genes in the cells.

RNA Sequencing Analysis of Intracranial Aneurysm Walls Reveals Involvement of Lysosomes and Immunoglobulins in Rupture.

Background And Purpose: Analyzing genes involved in development and rupture of intracranial aneurysms can enhance knowledge about the pathogenesis of aneurysms, and identify new treatment strategies. We compared gene expression between ruptured and unruptured aneurysms and control intracranial arteries.

Methods: We determined expression levels with RNA sequencing.

TRIM46 Controls Neuronal Polarity and Axon Specification by Driving the Formation of Parallel Microtubule Arrays.

Axon formation, the initial step in establishing neuronal polarity, critically depends on local microtubule reorganization and is characterized by the formation of parallel microtubule bundles. How uniform microtubule polarity is achieved during axonal development remains an outstanding question. Here, we show that the tripartite motif containing (TRIM) protein TRIM46 plays an instructive role in the initial polarization of neuronal cells.

A novel infant milk formula concept: Mimicking the human milk fat globule structure.

Human milk (HM) provides all nutrients to support an optimal growth and development of the neonate. The composition and structure of HM lipids, the most important energy provider, have an impact on the digestion, uptake and metabolism of lipids. In HM, the lipids are present in the form of dispersed fat globules: large fat droplets enveloped by a phospholipid membrane.

Diagnosis of becker muscular dystrophy: Results of Re-analysis of DNA samples.

Introduction: The phenotype of Becker muscular dystrophy (BMD) is highly variable, and the disease may be underdiagnosed. We searched for new mutations in the DMD gene in a cohort of previously undiagnosed patients who had been referred in the period 1985-1995.

Methods: All requests for DNA analysis of the DMD gene in probands with suspected BMD were re-evaluated.

EDTA: a synthetic draw solute for forward osmosis.

The draw solution is the driving force of the forward osmosis (FO) process; however, the solute loss of the draw solute to the feed side is a general, financial limitation for most applications. The anthropogenic amino acid ethylenediaminetetraacetic acid (EDTA) was investigated as a draw solution for FO. At concentrations of approximately 1.

Visualization of the aneurysm wall: a 7.0-tesla magnetic resonance imaging study.

Background: Risk prediction of rupture of intracranial aneurysms is poor and is based mainly on lumen characteristics. However, characteristics of the aneurysm wall may be more informative predictors. The limited resolution of currently available imaging techniques and the thin aneurysm wall make imaging of wall thickness challenging.

Particle size dependent deposition and pulmonary inflammation after short-term inhalation of silver nanoparticles.

Background: Although silver nanoparticles are currently used in more than 400 consumer products, it is not clear to what extent they induce adverse effects after inhalation during production and use. In this study, we determined the lung burden, tissue distribution, and the induction and recovery of adverse effects after short-term inhalation exposure to 15 nm and 410 nm silver nanoparticles.

Methods: Rats were nose-only exposed to clean air, 15 nm silver nanoparticles (179 μg/m³) or 410 nm silver particles (167 μg/m³) 6 hours per day, for four consecutive days.

Functional assessment of potential splice site variants in arrhythmogenic right ventricular dysplasia/cardiomyopathy.

Background: Interpretation of genetic screening results in arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) often is difficult. Pathogenicity of variants with uncertain clinical significance may be predicted by software algorithms. However, functional assessment can unambiguously demonstrate the effect of such variants.

A novel permeabilization protocol to obtain intracellular 3D immunolabeling for electron tomography.

Electron tomography (ET) is a very important high-resolution tool for 3D imaging in cell biology. By combining the technique with immunolabeling, ET can provide essential insights into both cellular architecture and dynamics. We recently developed a protocol to achieve 3D immunolabeling of intracellular antigens without the need for uncontrolled permeabilization steps that cause random, extensive cell membrane disruption.