Differential Effects of Biomimetic Thymine Dimers and Corresponding Photo-Adducts in Primary Human Keratinocytes and Fibroblasts.

UVB radiation induces DNA damage generating several thymine photo-adducts (TDPs), which can lead to mutations and cellular transformation. The DNA repair pathways preserve genomic stability by recognizing and removing photodamage. These DNA repair side products may affect cellular processes.

Mitochondrial DNA variant detection in over 6,500 rare disease families by the systematic analysis of exome and genome sequencing data resolves undiagnosed cases.

Background: Variants in the mitochondrial genome (mtDNA) cause a diverse collection of mitochondrial diseases and have extensive phenotypic overlap with Mendelian diseases encoded on the nuclear genome. The mtDNA is often not specifically evaluated in patients with suspected Mendelian disease, resulting in overlooked diagnostic variants.

Methods: Using dedicated pipelines to address the technical challenges posed by the mtDNA - circular genome, variant heteroplasmy, and nuclear misalignment - single nucleotide variants, small indels, and large mtDNA deletions were called from exome and genome sequencing data, in addition to RNA-sequencing when available.

Evolutionary dynamics of PRRS virus in Italian Pig farms: a retrospective study.

Porcine Reproductive and Respiratory Syndrome (PRRS) causes huge economic losses to pig farms worldwide. Currently available vaccines do not always offer complete protection, due to the extreme variability of the virus. Therefore, good farming practices must be improved to prevent the disease from spreading across the pig production system.

SARS-CoV-2 seroprevalence and associated factors among outpatient attendees at health facilities in different provinces in Chad.

Background: Chad with 7,698 confirmed cases of infection and 194 deaths since the beginning of the COVID-19 pandemic, is one of the African countries with the lowest reported case numbers. However, this figure likely underestimates the true spread of the virus due to the low rate of diagnosis. The high rate of asymptomatic infections reflects the reality of SARS-CoV-2 transmission in Chad.

Accelerated Mechanochemical Bond Scission and Stabilization against Heat and Light in Carbamoyloxime Mechanophores.

Current approaches to the discovery of mechanochemical reactions in polymers are limited by the interconnection of the zero-force and force-modified potential energy surfaces since most mechanochemical reactions are force-biased thermal reactions. Here, carbamoyloximes are developed as a mechanophore class in which the mechanochemical reaction rates counterintuitively increase together with the thermal stability. All carbamoyloxime mechanophores undergo force-induced homolytic bond scission at the N-O bond, and their mechanochemical scission rate increases with the degree of substitution on the α-substituent.

Assessment and repeatability of aerobic capacity using the Chester Step Test among current, former, and never smokers.

Cigarette smoking contributes to reduced cardiorespiratory performance, which may improve upon cessation. Consequently, former smokers' cardiorespiratory fitness should not be significantly different from that of never-smokers. This study aims to compare V̇O values among current, former, and never smokers and assess the repeatability of measurements using the Chester Step Test (CST).

Large Neuroendocrine Neoplasms of the Duodenum: Description of Two Rare Subtypes and Technical Details on Surgical Treatment.

Background: Duodenal neuroendocrine tumors (NETs) are uncommon, accounting for less than 4% of all gastrointestinal neoplasms. Prognosis is related to tumoral staging and grading, as well as to the specific subtype. In this article, we retrospectively describe the clinical presentation and surgical treatment of two rare large duodenal NETs: a high-grade G3 NET and a Gangliocytic Paraganglioma (GP).

Tobacco Smoking or Nicotine Phenotype and Severity of Clinical Presentation at the Emergency Department (SMOPHED): Protocol for a Noninterventional Observational Study.

Background: In the last few years, several nicotine products have become available as alternatives to smoking tobacco. While laboratory and limited clinical studies suggest that these devices are less toxic compared to classic tobacco cigarettes, very little is known about their epidemiological impact. Visiting the emergency department (ED) often represents the first or even the only contact of patients with the health care system.

Behavioral Therapy for People With Diabetes Who Smoke: A Scoping Review.

Background: Tobacco smoking exacerbates diabetes-related complications; its prevalence is notwithstanding substantial. Persons with diabetes face a number of barriers and challenges to quitting such as multiple lifestyle restrictions; tailored interventions are required for smoking cessation.

Objective: To identify research on behavioral interventions for smoking cessation in diabetes.

Distance follow-up by a remote medical care centre improves adherence to CPAP in patients with obstructive sleep apnoea over the short and long term.

Background: Adherence to continuous positive air pressure (CPAP) in patients with obstructive sleep apnoea (OSA) has remained invariably low over the last decades. Remote monitoring of the nocturnal CPAP treatment, within telemedicine (TM)-based follow-up programs, in these patients has been suggested as a potential tool to improve adherence and release the workload of sleep units. The aim of this study was therefore to assess whether a follow-up program carried out by a Remote Medical Care Centre (RMCC), outside the sleep unit, improves adherence to CPAP in the short and long term in patients with OSA.

Pleomorphic/solid lobular carcinoma of male breast with PALB2 germline mutation: case report and literature review.

Male breast cancer (MBC) accounts for approximately 1% of all breast cancers and among these infiltrating lobular carcinomas (ILC) represents only 1-2% of all MBC cases. Pleomorphic invasive lobular carcinoma (PILC) is an aggressive variant of ILC with only eight cases reported until now in males. Up to 10% of MBC cases have a germline pathogenic variant in a predisposing gene such as BRCA1 and BRCA2 genes.

Non-Small Cell Lung Cancer Testing on Reference Specimens: An Italian Multicenter Experience.

Introduction: Biomarker testing is mandatory for the clinical management of patients with advanced non-small cell lung cancer (NSCLC). Myriads of technical platforms are now available for biomarker analysis with differences in terms of multiplexing capability, analytical sensitivity, and turnaround time (TAT). We evaluated the technical performance of the diagnostic workflows of 24 representative Italian institutions performing molecular tests on a series of artificial reference specimens built to mimic routine diagnostic samples.

Varenicline for smoking cessation in individuals who smoke cigarettes and use electronic cigarettes: a double-blind, randomised, placebo-controlled phase 3 trial.

Background: The efficacy and safety of varenicline for smoking cessation among individuals who smoke tobacco cigarettes and also use electronic cigarettes (known e-cigarettes or vapes) have not been studied. We aimed to address this knowledge gap and examine predictors for smoking abstinence.

Methods: In this double-blind, placebo-controlled, single-centre randomised trial in Italy, we enrolled adults who had used an e-cigarette daily for at least 12 months and who also smoked at least one tobacco cigarette per day and had a willingness to quit smoking.

A multicenter prospective randomized controlled trial investigating the effects of combustion-free nicotine alternatives on cardiovascular risk factors and metabolic parameters in individuals with type 2 diabetes who smoke: the DiaSmokeFree study protocol.

Stopping smoking is crucial for public health and especially for individuals with diabetes. Combustion-free nicotine alternatives like e-cigarettes and heated tobacco products are increasingly being used as substitutes for conventional cigarettes, contributing to the decline in smoking prevalence. However, there is limited information about the long-term health impact of those products in patients with diabetes.

Varenicline and counseling for vaping cessation: a double-blind, randomized, parallel-group, placebo-controlled trial.

Background: Vaping cessation is virtually unexplored. The efficacy and safety of varenicline for vaping cessation has not been studied and rigorous research is required to advance best practice and outcomes for people who use electronic cigarettes (EC) and want to quit. The objective is to evaluate the efficacy and safety of varenicline (1 mg BID, administered for 12 weeks, with follow-up to week 24) combined with vaping cessation counseling in exclusive daily EC users intending to quit vaping.

An update on lateral flow immunoassay for the rapid detection of SARS-CoV-2 antibodies.

Over the last three years, after the outbreak of the COVID-19 pandemic, an unprecedented number of novel diagnostic tests have been developed. Assays to evaluate the immune response to SARS-CoV-2 have been widely considered as part of the control strategy. The lateral flow immunoassay (LFIA), to detect both IgM and IgG against SARS-CoV-2, has been widely studied as a point-of-care (POC) test.

Health impact of e-cigarettes and heated tobacco products in chronic obstructive pulmonary disease: current and emerging evidence.

Introduction: Quitting is the only proven method to attenuate the progression of chronic obstructive pulmonary disease (COPD). However, most COPD smokers do not seem to respond to smoking cessation interventions and may benefit by lessening the negative health effects of long-term cigarette smoke exposure by switching to non-combustible nicotine delivery alternatives, such as heated tobacco products (HTPs) and e-cigarettes (ECs).

Areas Covered: Compared with conventional cigarettes, HTPs and ECs offer substantial reduction in exposure to toxic chemicals and have the potential to reduce harm from cigarette smoke when used as tobacco cigarette substitutes.