Routine Prenatal cfDNA Screening for Autosomal Dominant Single-Gene Conditions.

Background: Genetic screening has advanced from prenatal cell-free DNA (cfDNA) screening for aneuploidies (cfDNA-ANP) to single-gene disorders (cfDNA-SGD). Clinical validation studies have been promising in pregnancies with anomalies but are limited in the general population.

Methods: Chart review and laboratory data identified pregnancies with cfDNA-SGD screening for 25 autosomal dominant conditions at our academic center.

Comprehensive Assessment of Lifetime Cigarette Smoking and Its Association with Health-Related Quality of Life among Older US Adults-A Cross-sectional Study.

Background: Cigarette smoking is an established risk factor for lower health-related quality of life (HRQOL). Studies to date have not used comprehensive measures of tobacco exposures across the life course. We examined the association between a lifetime cigarette smoke exposure index (LCSEI) and HRQOL among older US adults.

Halving premature death and improving quality of life at all ages: cross-country analyses of past trends and future directions.

Background: Although death in old age is unavoidable, premature death-defined here as death before age 70 years-is not. To assess whether halving premature mortality by 2050 is feasible, we examined the large variation in premature death rates before age 70 years and trends over the past 50 years (1970-2019), covering ten world regions and the 30 most-populous nations. This analysis was undertaken in conjunction with the third report of The Lancet Commission on Investing in Health: Global Health 2050: the path to halving premature death by mid-century.

Diabetes and obesity: leveraging heterogeneity for precision medicine.

The increasing prevalence of diabetes, obesity, and their cardiometabolic sequelae present major global health challenges and highlight shortfalls of current approaches to the prevention and treatment of these conditions. Representing the largest global burden of morbidity and mortality, the pathobiological processes underlying cardiometabolic diseases are in principle preventable and, even when disease is manifest, sometimes reversable. Nevertheless, with current clinical and public health strategies, goals of widespread prevention and remission remain largely aspirational.

Geographical location, cigarette risk perceptions, and current smoking among older US adults.

Introduction: Cigarette smoking and smoking-related lung disease are more common in rural (vs urban) areas of the United States (US). This study examined relationships between geographical location, cigarette risk perceptions, and current smoking among older adults who are at greatest risk of developing smoking-related lung disease.

Methods: The study was a secondary data analysis of 12126 respondents aged ≥40 years from Wave 5 of the Population Assessment of Tobacco and Health Study.

Recall of Flavor at First E-cigarette Use and Its Association with E-cigarette Progression: The Mediating Effects of First Sensory Experience.

Objective: To test whether the association between flavor at first vape and continued use is mediated through subjective experience at first vape.

Study Design: In a 2020 cross-sectional survey, 955 young adult ever-vapers recalled their first flavor vaped, subjective experiences at first use, current vaping behavior, nicotine dependence, and quit attempts. A latent class model grouped first-use subjective experiences into classes.

Echocardiographic predictors and associated outcomes of multiple vegetations in infective endocarditis: A pilot study.

Background: Infective endocarditis (IE) is a life-threatening infection with an annual mortality of 40%. Embolic events reported in up to 80% of patients. Vegetations of > 10 mm size are associated with increased embolic events and poor prognosis.

Level and timing of product substitution in a trial of e-cigarettes for smokers not interested in quitting.

Introduction: The e-cigarette market is large and diverse. Traditional smoking cessation trials involving a control group and a 6-month observation period are an inefficient methodology for testing the multiple treatment options e-cigarettes provide for harm reduction in cigarette smokers. We determined when product substitution occurred in the e-cigarette provision arm of an e-cigarette substitution trial for cigarette smokers who were not interested in quitting.

The Functional Vision for Communication Questionnaire (FVC-Q): Exploring Parental Report of Non-Speaking Children's Fixation Skills Using a Structured History-Taking Approach.

This paper explores whether a structured history-taking tool yields useful descriptions of children's looking skills. Parents of 32 children referred to a specialist communication clinic reported their child's looking skills using the Functional Vision for Communication Questionnaire (FVC-Q), providing descriptions of single object fixation, fixation shifts between objects and fixation shifts from object to person. Descriptions were compared with clinical assessment.

Experiences in global mental health.

Participating in Global Mental Health program development and education and training efforts is rewarding and exciting work. The author describes several global experiences he has engaged in over the past 30 years, which has focused on teaching and encouraging family therapy and mental health care that support human rights and promote human development as innovated and promoted by the Global Alliance for Behavioral Health, formerly the American Orthopsychiatric Association. The author learned through participation that merely presenting mental health information and treatment approaches through lecture presentation was not adequate to help professionals and advocates in low- and middle-income countries to build sustainable mental health care systems in their home regions.

Methods to study xenografted human cancer in genetically diverse mice.

Xenografting human cancer tissues into mice to test new cures against cancers is critical for understanding and treating the disease. However, only a few inbred strains of mice are used to study cancers, and derivatives of mainly one strain, mostly NOD/ShiLtJ, are used for therapy efficacy studies. As it has been demonstrated when human cancer cell lines or patient-derived tissues (PDX) are xenografted into mice, the neoplastic cells are human but the supporting cells that comprise the tumor (the stroma) are from the mouse.

Relationship Between Tobacco Product Use and Health-Related Quality of Life Among Individuals With COPD in Waves 1-5 (2013-2019) of the Population Assessment of Tobacco and Health Study.

Introduction: We examined the association between tobacco product use and health-related quality of life (HRQoL) among individuals with chronic obstructive pulmonary disease (COPD) in Waves 1-5 of the Population Assessment of Tobacco and Health (PATH) Study.

Methods: Adults ≥40 years with an ever COPD diagnosis were included in cross-sectional (Wave 5) and longitudinal (Waves 1 to 5) analyses. Tobacco use included 13 mutually exclusive categories of past 30-day (P30D) single use and polyuse with P30D exclusive cigarette use and ≥5-year cigarette cessation as reference groups.

No evidence for chunking in spatial memory of route experience.

Spatial memory is important for supporting the successful completion of everyday activities and is a particularly vulnerable domain in late life. Grouping items together in memory, or chunking, can improve spatial memory performance. In memory for desktop scale spaces and well-learned large-scale environments, error patterns suggest that information is chunked in memory.

Clinical boundaries in adult cases of large B cell lymphoma with IRF4 rearrangement.

Aims: Large B-cell lymphoma with IRF4 rearrangement (LBCL-IRF4) is a recently described entity included in the revised 4th edition of the WHO Classification of Haematolymphoid Tumours (2017). Here we highlight the difficulties in classification of those cases which arise in adult patients with unusual clinical features.

Results: We present three cases with morphological and immunohistochemical features consistent with large B-cell lymphoma arising in adult patients, which were found to have isolated IRF4 rearrangements on FISH analysis.

ArtEMon: Artificial Intelligence and Internet of Things Powered Greenhouse Gas Sensing for Real-Time Emissions Monitoring.

Greenhouse gas (GHG) emissions reporting and sustainability are increasingly important for businesses around the world. Yet the lack of a single standardised method of measurement, when coupled with an inability to understand the true state of emissions in complex logistics activities, presents enormous barriers for businesses to understanding the extent of their emissions footprint. One of the traditional approaches to accurately capturing and monitoring gas emissions in logistics is through using gas sensors.

The validity of self-rated alcohol susceptibility in predicting alcohol use in early adolescents in Latin America.

Background: The measurement of substance use susceptibility was first conceived as part of the preparatory stage that precedes youth smoking initiation and is defined as the lack of a firm commitment not to smoke in the future. Despite being a consistent and validated predictor of smoking initiation, there has been little research on whether susceptibility can predict alcohol use. This study assessed the validity of an adapted alcohol susceptibility measure to predict alcohol consumption among early adolescent students in Argentina and Mexico who had not previously consumed alcohol.

Human Patient-Derived Brain Tumor Models to Recapitulate Ependymoma Tumor Vasculature.

Despite in vivo malignancy, ependymoma lacks cell culture models, thus limiting therapy development. Here, we used a tunable three-dimensional (3D) culture system to approximate the ependymoma microenvironment for recapitulating a patient's tumor in vitro. Our data showed that the inclusion of VEGF in serum-free, mixed neural and endothelial cell culture media supported the in vitro growth of all four ependymoma patient samples.

Childhood Cigarette Smoking and Risk of Chronic Obstructive Pulmonary Disease in Older U.S. Adults.

It is not certain the extent to which childhood smoking adds chronic obstructive pulmonary disease (COPD) risk independent of lifetime cigarette exposure. We examined the association between age started smoking cigarettes regularly, current smoking status, smoking history, and risk of COPD. Cross-sectional survey of U.

Thin and hypokinetic myocardial segments in cats with cardiomyopathy.

Introduction/objectives: Thin and hypokinetic myocardial segments (THyMS) represent adverse ventricular (LV) remodeling in human hypertrophic cardiomyopathy. We describe the echocardiographic features and outcome in cats with THyMS, and in a subpopulation, the echocardiographic phenotype before LV wall thinning was detected (pre-THyMS).

Animals: Eighty client-owned cats.