Safety and immunogenicity of mRNA-1345 RSV vaccine coadministered with an influenza or COVID-19 vaccine in adults aged 50 years or older: an observer-blinded, placebo-controlled, randomised, phase 3 trial.

Background: Coadministration of a respiratory syncytial virus (RSV) vaccine with seasonal influenza or SARS-CoV-2 vaccines could reduce health-care visits and increase vaccination uptake in older adults who are at high risk for severe respiratory disease. The RSV mRNA-1345 vaccine demonstrated efficacy against RSV disease with acceptable safety in the ConquerRSV trial in adults aged 60 years and older. We aimed to evaluate the safety and immunogenicity of mRNA-1345 coadministered with a seasonal influenza vaccine or SARS-CoV-2 mRNA vaccine.

Assessing and attending to psychosocial concerns in genetic counseling: Proposing the BATHE method.

The process of identifying and responding to patients' social, emotional, and psychological concerns is a required skill for training and practicing genetic counselors. Patients' health outcomes are improved when genetic counselors attend to these "psychosocial" concerns. Still, the process of eliciting, assessing, and attending to patients' psychosocial concerns in the genetic counseling setting is not well defined in the literature nor is it performed consistently.

The association of telomere length with body mass index and immunological factors differs according to physical activity practice among children and adolescents.

Background: This study aims to verify the relationship between screen and sleep time, body mass index (BMI) and immunological factors with telomere length according to leisure-time physical activity (PA) in children and adolescents.

Methods: A cross-sectional study involving a sample of 476 schoolchildren of both sexes, aged seven to 17 years, from a community in southern Brazil. Behavioral variables (PA, sleep time, and screen time) were self-reported using a questionnaire.

Screen time, sleep duration, leisure physical activity, obesity, and cardiometabolic risk in children and adolescents: a cross-lagged 2-year study.

Background: Considering the previous research that suggested that screen time (ST), sleep duration, physical activity (PA), obesity and cardiometabolic risk factors are related, it is essential to identify how these variables are associated over time, to provide knowledge for the development of intervention strategies to promote health in pediatric populations. Also, there is a lack of studies examining these associations longitudinally. The aims of the present study were: (1) to investigate the longitudinal relationships between ST, sleep duration, leisure PA, body mass index (BMI), and cardiometabolic risk score (cMetS) in children and adolescents; and (2) to verify scores and prevalence of cMetS risk zones at baseline and follow-up.

The current landscape of clinical exome and genome reanalysis in the U.S.

The majority of patients undergoing exome or genome sequencing receive a nondiagnostic result. Periodic reanalysis is known to increase diagnostic yield from exome sequencing, yet laboratory reanalysis practices are obscure. We sought to define the landscape of exome and genome reanalysis across clinical laboratories.

Safety and immunogenicity of an mRNA-based RSV vaccine in Japanese older adults aged ≥60 years: A phase 1, randomized, observer-blind, placebo-controlled trial.

Background: Respiratory syncytial virus (RSV) represents a global health concern, including in older adults. This study assessed the safety and immunogenicity of mRNA-1345, an investigational mRNA RSV vaccine, in adults aged ≥60 years of Japanese descent.

Methods: In this phase 1, randomized, observer-blind, placebo-controlled study, participants were randomized to receive one injection of mRNA-1345 100 μg or placebo.

Imaging Diffractometric Biosensors for Label-Free, Multi-Molecular Interaction Analysis.

Biosensors are used for the specific and sensitive detection of biomolecules. In conventional approaches, the suspected target molecules are bound to selected capture molecules and successful binding is indicated by additional labelling to enable optical readout. This labelling requires additional processing steps tailored to the application.

ClinGen Hereditary Cardiovascular Disease Gene Curation Expert Panel: Reappraisal of Genes associated with Hypertrophic Cardiomyopathy.

Background: Hypertrophic cardiomyopathy (HCM) is an inherited cardiac condition affecting ~1 in 500 and exhibits marked genetic heterogeneity. Previously published in 2019, 57 HCM-associated genes were curated providing the first systematic evaluation of gene-disease validity. Here we report work by the ClinGen Hereditary Cardiovascular Disorders Gene Curation Expert Panel (HCVD-GCEP) to reappraise the clinical validity of previously curated and new putative HCM genes.

Exploring cardiovascular health in children: the influence of Hemoglobin-to-Platelet ratio in contrasting rural and urban communities.

Understanding the associations and possible mechanisms between Cardiorespiratory Fitness (CRF) and residential location is an important focus of public health research. This is a cross-sectional study carried out with 2250 students (6-17 years), from southern Brazil. In addition to age, sex, and body size measurements, we also recorded hemoglobin and platelet count measurements using venous blood samples (10 ml).

Association between Active Commuting and Lifestyle Parameters with Mental Health Problems in Chilean Children and Adolescent.

Background: Little is known about the association between active commuting (i.e., walking or cycling to school) with lifestyle parameters and mental health in youths.

Loss of function of FAM177A1, a Golgi complex localized protein, causes a novel neurodevelopmental disorder.

Purpose: The function of FAM177A1 and its relationship to human disease is largely unknown. Recent studies have demonstrated FAM177A1 to be a critical immune-associated gene. One previous case study has linked FAM177A1 to a neurodevelopmental disorder in 4 siblings.

Noncanonical WNT5A controls the activation of latent TGF-β to drive fibroblast activation and tissue fibrosis.

Transforming growth factor β (TGF-β) signaling is a core pathway of fibrosis, but the molecular regulation of the activation of latent TGF-β remains incompletely understood. Here, we demonstrate a crucial role of WNT5A/JNK/ROCK signaling that rapidly coordinates the activation of latent TGF-β in fibrotic diseases. WNT5A was identified as a predominant noncanonical WNT ligand in fibrotic diseases such as systemic sclerosis, sclerodermatous chronic graft-versus-host disease, and idiopathic pulmonary fibrosis, stimulating fibroblast-to-myofibroblast transition and tissue fibrosis by activation of latent TGF-β.

Erectile function preservation after salvage radiation therapy for biochemically recurrent prostate cancer after prostatectomy: Five-year results of the SAKK 09/10 randomized phase 3 trial.

Objectives: To evaluate effects of dose intensified salvage radiotherapy (sRT) on erectile function in biochemically recurrent prostate cancer (PC) after radical prostatectomy (RP).

Materials And Methods: Eligible patients had evidence of biochemical failure after RP and a PSA at randomization of ≤ 2 ng/ml. Erectile dysfunction (ED) was investigated as secondary endpoint within the multicentre randomized trial (February 2011 to April 2014) in patients receiving either 64 Gy or 70 Gy sRT.

Neuromagnetic representation of musical roundness in chord progressions.

Introduction: Musical roundness perception relies on consonance/dissonance within a rule-based harmonic context, but also on individual characteristics of the listener. The present work tackles these aspects in a combined psychoacoustic and neurophysiological study, taking into account participant's musical aptitude.

Methods: Our paradigm employed cadence-like four-chord progressions, based on Western music theory.

variants in the non-coding spliceosomal snRNA gene are a frequent cause of syndromic neurodevelopmental disorders.

Around 60% of individuals with neurodevelopmental disorders (NDD) remain undiagnosed after comprehensive genetic testing, primarily of protein-coding genes. Increasingly, large genome-sequenced cohorts are improving our ability to discover new diagnoses in the non-coding genome. Here, we identify the non-coding RNA as a novel syndromic NDD gene.

WEB OF TRANSFORMATIONS: impact of multicomponent intervention on the relationship between sociodemographic indicators, changes in body composition, cardiorespiratory fitness and biochemical markers in adolescents with overweight and obesity.

The study aims to analyze the relationships between changes after multicomponent intervention in sociodemographic indicators, body composition, cardiorespiratory fitness and biochemical markers in overweight/obese adolescents. Quasi-experimental study with 33 overweight/obese adolescents (17 in the intervention group (IG) and 16 in the control group (16)), in which the GI participated in the multicomponent intervention for 24 weeks. Sociodemographic indicators, body composition, cardiorespiratory fitness and biochemical markers were evaluated.

Integration of transcriptomics and long-read genomics prioritizes structural variants in rare disease.

Rare structural variants (SVs) - insertions, deletions, and complex rearrangements - can cause Mendelian disease, yet they remain difficult to accurately detect and interpret. We sequenced and analyzed Oxford Nanopore long-read genomes of 68 individuals from the Undiagnosed Disease Network (UDN) with no previously identified diagnostic mutations from short-read sequencing. Using our optimized SV detection pipelines and 571 control long-read genomes, we detected 716 long-read rare (MAF < 0.

Fitness and fatness in children and adolescents: investigating their role in the association between physical activity and cardiometabolic health.

To verify the role of the combination of fitness and fatness in the relationship between physical activity (PA) and cardiometabolic risk in children and adolescents. This is a cross-sectional study performed with 2786 children and adolescents (6 to 17 years). Fitness was determined by the cardiorespiratory fitness (CRF) six-minute walking and running test.

Long-term prediction by DNA methylation of high-grade cervical intraepithelial neoplasia: Results of the ARTISTIC cohort.

Methylation markers have shown potential for triaging high-risk HPV-positive (hrHPV+) women to identify those at increased risk of invasive cervical cancer (ICC). Our aim was to assess the performance of the S5 DNA methylation classifier for predicting incident high-grade cervical intraepithelial neoplasia (CIN) and ICC among hrHPV+ women in the ARTISTIC screening trial cohort. The S5 classifier, comprising target regions of tumour suppressor gene EPB41L3 and L1 and L2 regions of HPV16, HPV18, HPV31, and HPV33, was assayed by pyrosequencing in archived hrHPV+ liquid-based samples from 343 women with high-grade disease (139 CIN2, 186 CIN3, and 18 ICC) compared to 800 hrHPV+ controls.

Regional Variation in Cardiovascular Genes Enables a Tractable Genome Editing Strategy.

Background: To realize the potential of genome engineering therapeutics, tractable strategies must be identified that balance personalized therapy with the need for off-the-shelf availability. We hypothesized that regional clustering of pathogenic variants can inform the design of rational prime editing therapeutics to treat the majority of genetic cardiovascular diseases with a limited number of reagents.

Methods: We collated 2435 high-confidence pathogenic/likely pathogenic (P/LP) variants in 82 cardiovascular disease genes from ClinVar.

Associations of sleep time, quality of life, and obesity indicators on physical literacy components: a structural equation model.

Aim: To verify the association between ideal sleep time and physical literacy components while also considering multiple mediators, such as quality of life and obesity, using a sample of adolescents.

Methods: This cross-sectional study consisted of 470 adolescents aged 11-17 years from southern Brazil. Sleep time, health-related quality of life, and physical literacy components (i.