Whole-genome sequencing offers additional but limited clinical utility compared with reanalysis of whole-exome sequencing.

Purpose: Whole-exome sequencing (WES) and whole-genome sequencing (WGS) are used to diagnose genetic and inherited disorders. However, few studies comparing the detection rates of WES and WGS in clinical settings have been performed.

Methods: Variant call format files were generated and raw data analysis was performed in cases in which the final molecular results showed discrepancies.

Neutrophils provide cellular communication between ileum and mesenteric lymph nodes at graft-versus-host disease onset.

Conditioning-induced damage of the intestinal tract plays a critical role during the onset of acute graft-versus-host disease (GVHD). Therapeutic interference with these early events of GVHD is difficult, and currently used immunosuppressive drugs mainly target donor T cells. However, not donor T cells but neutrophils reach the sites of tissue injury first, and therefore could be a potential target for GVHD prevention.

Shift of microbial composition of peri-implantitis-associated oral biofilm as revealed by 16S rRNA gene cloning.

Purpose: Micro-organisms are important triggers of peri-implant inflammation and analysing their diversity is necessary for peri-implantitis treatment. This study aimed to analyse and compare the microbiota associated with individuals with peri-implantitis, as well as clinically healthy implant sites.

Methodology: Subgingival biofilm samples were taken from 10 individuals with peri-implantitis and from at least 1 clinically healthy implant.

Leadless Pacemakers: State of the Art and Future Perspectives.

Leadless pacemaker therapy is a new technology that aims at avoiding lead- and pocket-related complications of conventional transvenous and epicardial pacing. To date, 2 self-contained leadless pacemakers for right ventricular pacing have been clinically available: the Nanostim Leadless Pacemaker System and the Micra Transcatheter Pacing System. Additionally, a new multicomponent leadless pacemaker for endocardial left ventricular pacing has been proposed as an alternative choice for cardiac resynchronization therapy.

Impact of weight loss on ablation outcome in obese patients with longstanding persistent atrial fibrillation.

Aims: This study investigated the impact of weight loss in longstanding persistent (LSPAF) patients undergoing catheter ablation (CA).

Methods: Ninety consecutive obese LSPAF patients were approached; 58 volunteered to try weight loss interventions for up to 1 year (group 1), while 32 patients declined weight loss interventions and were included as a control (group 2). Both groups remained on antiarrhythmic drugs.

Discovery of Aromatic Carbamates that Confer Neuroprotective Activity by Enhancing Autophagy and Inducing the Anti-Apoptotic Protein B-Cell Lymphoma 2 (Bcl-2).

Neurodegenerative diseases share certain pathophysiological hallmarks that represent common targets for drug discovery. In particular, dysfunction of proteostasis and the resultant apoptotic death of neurons represent common pathways for pharmacological intervention. A library of aromatic carbamate derivatives based on the clinically available drug flupirtine was synthesized to determine a structure-activity relationship for neuroprotective activity.

Isolation of the superior vena cava from the right atrial posterior wall: a novel ablation approach.

Aims: Superior vena cava (SVC) isolation might be difficult to achieve because of the vicinity of the phrenic nerve (PN) and sinus node. Based on its embryogenesis, we hypothesized the presence of preferential conduction from the right atrial (RA) posterior wall, making it possible to isolate the SVC antrally, sparing its anterior and lateral aspect.

Methods And Results: This is a descriptive cohort study of 105 consecutive patients in which SVC isolation was obtained with radiofrequency ablation, starting in the septal aspect of the SVC-RA junction and continued posteriorly and inferiorly targeting sites of early activation until electrical isolation was obtained.

Comparative study of expression and activity of glucose transporters between stem cell-derived brain microvascular endothelial cells and hCMEC/D3 cells.

Glucose constitutes a major source of energy of mammalian brains. Glucose uptake at the blood-brain barrier (BBB) occurs through a facilitated glucose transport, through glucose transporter 1 (GLUT1), although other isoforms have been described at the BBB. Mutations in GLUT1 are associated with the GLUT1 deficiency syndrome, yet none of the current in vitro models of the human BBB maybe suited for modeling such a disorder.

Association between high risk for preterm birth and changes in gingiva parameters during pregnancy-a prospective cohort study.

Objectives: The objective of this study was to investigate clinical and microbiological gingival changes during pregnancy in women without periodontal disease. Additionally, these parameters were to be compared in women with high risk for preterm birth and women with a normal course of pregnancy.

Method And Materials: Group I consisted of 40 subjects at high risk for preterm birth, while group II involved 49 subjects with a normal course of pregnancy.

Procedural findings and ablation outcome in patients with atrial fibrillation referred after two or more failed catheter ablations.

Introduction: This study reports the procedural findings and ablation outcome in AF patients referred after ≥2 failed PV isolation (PVI).

Methods: Three hundred and five consecutive AF patients referred after ≥2 PVI were included in the analysis. High-dose isoproterenol challenge was used to identify PV reconnection and non-PV triggers; the latter were ablated based on the operator's discretion during the index procedure.

Introduction of sample tubes with sodium azide as a preservative for ethyl glucuronide in urine.

Ethyl glucuronide (EtG) is a direct alcohol marker, which is widely used for clinical and forensic applications, mainly for abstinence control. However, the instability of EtG in urine against bacterial degradation or the post-collectional synthesis of EtG in contaminated samples may cause false interpretation of EtG results in urine samples. This study evaluates the potential of sodium azide in tubes used for urine collection to hinder degradation of ethyl glucuronide by bacterial metabolism taking place during growth of bacterial colonies.

Response of bacterial communities to Pb smelter pollution in contrasting soils.

Anthropogenic inputs of trace elements (TE) into soils constitute a major public and environmental health problem. Bioavailability of TE is strongly related to the soil physicochemical parameters and thus to the ecosystem type. In order to test whether soil parameters influence the response of the bacterial community to TE pollution, we collected soil samples across contrasting ecosystems (hardwood, coniferous and hydromorphic soils), which have been contaminated in TE and especially lead (Pb) over several decades due to nearby industrial smelting activities.

Antibiotic Resistance Genes and Antibiotic Susceptibility of Oral Enterococcus faecalis Isolates Compared to Isolates from Hospitalized Patients and Food.

Enterococcus faecalis, a commensal of the intestinal tract of humans and animals is of great significance as leading opportunistic pathogen, and also prevalent in oral diseases, such as endodontic infections, as well as the healthy oral cavity. To investigate the potential of oral E. faecalis to constitute a reservoir of antibiotic resistance, isolates from supragingival plaque/saliva and from endodontic infections were screened regarding their resistance to selected antibiotics in comparison to nosocomial and food isolates.

Modeling Psychomotor Retardation using iPSCs from MCT8-Deficient Patients Indicates a Prominent Role for the Blood-Brain Barrier.

Inactivating mutations in the thyroid hormone (TH) transporter Monocarboxylate transporter 8 (MCT8) cause severe psychomotor retardation in children. Animal models do not reflect the biology of the human disease. Using patient-specific induced pluripotent stem cells (iPSCs), we generated MCT8-deficient neural cells that showed normal TH-dependent neuronal properties and maturation.

Isogenic blood-brain barrier models based on patient-derived stem cells display inter-individual differences in cell maturation and functionality.

The blood-brain barrier (BBB) constitutes an important component of the neurovascular unit formed by specialized brain microvascular endothelial cells (BMECs) surrounded by astrocytes, pericytes, and neurons. Recently, isogenic in vitro models of the BBB based on human pluripotent stem cells have been documented, yet the impact of inter-individual variability on the yield and phenotype of such models remains to be documented. In this study, we investigated the impact of inter-individual variability on the yield and phenotype of isogenic models of the BBB, using patient-derived induced pluripotent stem cells (iPSCs).

Predictive value of device-derived activity level for short-term outcomes in MADIT-CRT.

Background: There are limited data on the prognostic importance of declining activity level in patients with heart failure.

Objective: We aimed to assess the association of reduced activity level with adverse cardiovascular outcomes in the Multicenter Automatic Defibrillator Implantation Trial with Cardiac Resynchronization Therapy (MADIT-CRT).

Methods: Final device interrogations from patients enrolled in the MADIT-CRT with cardiac resynchronization devices capable of recording percent daily activity level were assessed.

Prevalence of right atrial non-pulmonary vein triggers in atrial fibrillation patients treated with thyroid hormone replacement therapy.

Background: Thyroid hormone (TH) is known to enhance arrhythmogenicity, and high-normal thyroid function is related with an increased recurrence of atrial fibrillation (AF) after catheter ablation. However, the impact of thyroid hormone replacement (THR) on AF ablation is not well known.

Methods: This study evaluated 1163 consecutive paroxysmal AF patients [160 (14%) on THR and 1003 (86%) without THR] undergoing their first catheter ablation.

A Simultaneously Antimicrobial, Protein-Repellent, and Cell-Compatible Polyzwitterion Network.

A simultaneously antimicrobial, protein-repellent, and cell-compatible surface-attached polymer network is reported, which reduces the growth of bacterial biofilms on surfaces through its multifunctionality. The coating was made from a poly(oxonorbornene)-based zwitterion (PZI), which was surface-attached and cross-linked in one step by simultaneous UV-activated CH insertion and thiol-ene reaction. The process was applicable to both laboratory surfaces like silicon, glass, and gold and real-life surfaces like polyurethane foam wound dressings.

Alternative Approaches for Ablation of Resistant Ventricular Tachycardia.

Ventricular tachycardia (VT) ablation is usually performed with an ablation catheter that delivers unipolar radiofrequency (RF) energy to eliminate the re-entry circuit responsible for VT. However, there are some instances when unipolar RF ablation fails, notably in VTs with a deep intramural origin, or cases in which epicardial access is not attainable due to prior cardiac surgery. To overcome these limitations, several alternative approaches have been used in clinical practice, including alcohol ablation or coil embolization, simultaneous unipolar or bipolar RF ablation, surgical ablation, or noninvasive ablation with stereotactic radiosurgery.

Antimicrobial photodynamic therapy as an adjunct for treatment of deep carious lesions-A systematic review.

For deep carious lesions, a more conservative treatment modality ("selective caries removal") has been proposed, where only the heavily contaminated dentine is removed. In this regard, effective adjuncts for cavity disinfection such as the antimicrobial photodynamic therapy (aPDT) can be valuable clinically prior to definitive restoration. Therefore, the aim of this study was to systematically assess clinical studies on the effectiveness of aPDT as a supplementary tool in the treatment of deep caries lesions.

Long-term follow-up of patients with paroxysmal atrial fibrillation and severe left atrial scarring: comparison between pulmonary vein antrum isolation only or pulmonary vein isolation combined with either scar homogenization or trigger ablation.

Aims: Left atrial (LA) scarring, a consequence of cardiac fibrosis is a powerful predictor of procedure-outcome in atrial fibrillation (AF) patients undergoing catheter ablation. We sought to compare the long-term outcome in patients with paroxysmal AF (PAF) and severe LA scarring identified by 3D mapping, undergoing pulmonary vein isolation (PVAI) only or PVAI and the entire scar areas (scar homogenization) or PVAI+ ablation of the non-PV triggers.

Methods And Results: Totally, 177 consecutive patients with PAF and severe LA scarring were included.

Photoinactivation Using Visible Light Plus Water-Filtered Infrared-A (vis+wIRA) and Chlorine e6 (Ce6) Eradicates Planktonic Periodontal Pathogens and Subgingival Biofilms.

Alternative treatment methods for pathogens and microbial biofilms are required due to the widespread rise in antibiotic resistance. Antimicrobial photodynamic therapy (aPDT) has recently gained attention as a novel method to eradicate pathogens. The aim of this study was to evaluate the antimicrobial effects of a novel aPDT method using visible light (vis) and water infiltrated infrared A (wIRA) in combination with chlorine e6 (Ce6) against different periodontal pathogens in planktonic form and within subgingival oral biofilms.