CAGI6 ID panel challenge: assessment of phenotype and variant predictions in 415 children with neurodevelopmental disorders (NDDs).

The Genetics of Neurodevelopmental Disorders Lab in Padua provided a new intellectual disability (ID) Panel challenge for computational methods to predict patient phenotypes and their causal variants in the context of the Critical Assessment of the Genome Interpretation, 6th edition (CAGI6). Eight research teams submitted a total of 30 models to predict phenotypes based on the sequences of 74 genes (VCF format) in 415 pediatric patients affected by Neurodevelopmental Disorders (NDDs). NDDs are clinically and genetically heterogeneous conditions, with onset in infant age.

Impact of PM, relative humidity, and temperature on sleep quality: a cross-sectional study in Taipei.

Introduction: TWe investigated impacts of particulate matter with an aerodynamic diameter of less than 2.5 μm (PM), relative humidity (RH), and temperature on sleep stages and arousal.

Materials And Methods: A cross-sectional analysis involving 8,611 participants was conducted at a sleep center in Taipei.

Comparison of Associations of Food Security Instruments and Mediators With Premature All-Cause and Cardiovascular Disease Death in US Adults.

Background: Food insecurity is associated with high morbidity and mortality and is typically measured with the 10-item US Adult Food Security Survey Module. Shorter instruments may capture similar information, but this has not been validated against mortality in general populations.

Methods: A nationally representative sample of individuals aged 20 to 74 years from the US National Health Interview Survey 2011 to 2018 was included, with deaths linked to the National Death Index through 2019.

The epidemiology of pressure injuries in adult intensive care unit patients supported with extracorporeal membrane oxygenation.

Objective: To describe the epidemiology and clinical features of pressure injury (PI) development in adult patients supported with extracorporeal membrane oxygenation (ECMO).

Design: Retrospective, observational, cohort study from January 2018 to May 2023.

Setting: A single-centre high-volume ECMO specialist intensive care unit (ICU).

Hospital-level volume in extracorporeal membrane oxygenation cases and death or disability at 6 months.

Objective: Extracorporeal membrane oxygenation (ECMO) is a high-risk procedure with significant morbidity and mortality and there is an uncertain volume-outcome relationship, especially regarding long-term functional outcomes. The aim of this study was to examine the association between ECMO centre volume and long-term death and disability outcomes.

Design Setting And Participants: This is a registry-embedded observational cohort study.

Prone positioning of nonintubated patients with COVID-19 in Australian intensive care units.

Objective: To describe the use of and outcomes from awake prone positioning (APP) in nonintubated patients with COVID-19 in Australian intensive care units (ICUs) in comparison to those who did not receive APP, and to explore the temporal relationship between publication of APP research and changes in clinical practice.

Design: Multicentre, observational cohort study.

Setting: Seventy-eight Australian ICUs participating in SPRINT-SARI Australia.

ICU-acquired hypernatremia: Prevalence, patient characteristics, trajectory, risk factors, and outcomes.

Objective: Knowledge of intensive care unit (ICU) acquired hypernatremia (ICU-AH) has been hampered by the absence of granular data and confounded by variable definitions and inclusion criteria.

Design: Multicentre retrospective cohort study.

Setting: Twelve ICUs in Queensland (QLD), Australia.

Fractional CO Laser to Treat Surgical Scars: A System Review and Meta-Analysis on Optimal Timing.

Background: Surgical scars with textural changes can be disfiguring and uncomfortable for patients. Various laser therapies have shown promise in softening and flattening these scars. Therefore, the authors conducted a systematic review and meta-analysis on the efficacy of fractional CO laser in treating surgical scars.

Exploring artificial intelligence for differentiating early syphilis from other skin lesions: a pilot study.

Background: Early diagnosis of syphilis is vital for its effective control. This study aimed to develop an Artificial Intelligence (AI) diagnostic model based on radiomics technology to distinguish early syphilis from other clinical skin lesions.

Methods: The study collected 260 images of skin lesions caused by various skin infections, including 115 syphilis and 145 other infection types.

Early life factors and later metabolic syndrome in European children and adolescents.

Background And Aims: Early life factors have been suggested to be associated with later cardiometabolic risk in children, adolescents and adults. Our study aimed to investigate the associations between early life factors and metabolic syndrome (MetS) in children and adolescents.

Methods And Results: Our analysis sample comprised of 8852 children aged 2-9 years at baseline that participated in up to three examination waves of the pan-European IDEFICS/I.

Primary care transformation in Scotland: a comparison two cross-sectional national surveys of general practitioners' views in 2018 and 2023.

Background: The 2018 Scottish GP contract established GP Clusters and multidisciplinary team (MDT) expansion. Qualitative studies have suggested sub-optimal progress.

Aim: To quantify progress since the introduction of the new contract.

Family Perspectives on Stigma Toward Women Who Use Drugs in Tanzania.

The stigma surrounding drug use adversely affects the health and wellbeing of people who use drugs. With projected increases in drug use in Africa over the next decade, understanding public perceptions of drug use is critical. This study explores perceptions and attitudes toward illicit drug use from the viewpoint of the families of women who use drugs.

HIV Trends in Metropolitan US Cities From 2014 to 2021: Baseline Data for the Ending the HIV Epidemic Initiative.

To examine baseline trends for the 2019 Ending the HIV Epidemic in the United States (EHE), which aims to reduce HIV incidence by 90% by 2030 in the 57 counties and states responsible for half of incident infections, and to provide a counterfactual comparator for future evaluation of the initiative's midpoint. We used 2014‒2021 metropolitan statistical area (MSA) data to compare HIV diagnostic rate trends between MSAs subsuming EHE regions (n = 46) and other MSAs (n = 76). A difference-in-difference analysis illustrated potential early-stage programmatic effects.

Long-term health benefit and economic return of time in range (TIR) improvement in individuals with type 2 diabetes.

Objective: Time in range (TIR) is an important metric to measure variability of blood glucose levels. The aim is to quantify the long-term health benefits and economic return associated with improved TIR for individuals with type 2 diabetes (T2D).

Method: A Markov model with three states (T2D, T2D with cardiovascular disease (CVD) and death) estimated 20-year medical costs, quality-adjusted life-years (QALY) gained and CVD risk under four TIR scenarios: >85%, 71%-85%, 51%-70% and ≤50%.

Illustrating the structures of bias from immortal time using directed acyclic graphs.

Background: Immortal time is a period of follow-up during which death or the study outcome cannot occur by design. Bias from immortal time has been increasingly recognized in epidemiological studies. However, the fundamental causes and structures of bias from immortal time have not been explained systematically.

Association and function analysis of genetic variants and the risk of gestational diabetes mellitus in a southern Chinese population.

Background: Gestational diabetes mellitus (GDM) is a complex metabolic disease that has short-term and long-term adverse effects on mothers and infants. However, the specific pathogenic mechanism has not been elucidated.

Objective: The aim of this study was to confirm the associations between candidate genetic variants (rs4134819, rs720918, rs2034410, rs11109509, and rs12524768) and GDM risk and prediction in a southern Chinese population.

The valuation of older adult homecare services under a joint medical-social budgetary perspective.

Background: Homecare, a cornerstone of public health, is essential for health systems to achieve the Sustainable Development Goal (SDG) of universal health coverage while maintaining its own sustainability. Notwithstanding homecare's system-level significance, there is a lack of economic evaluations of homecare services in terms of their system-wide cost-savings. Specifically, decisions informed by a joint medical-social budgetary perspective can maximize the allocative efficiency of assigning a diverse service mix to address the complex needs of the older adult population.

Enhancing mass vaccination programs with queueing theory and spatial optimization.

Background: Mass vaccination is a cornerstone of public health emergency preparedness and response. However, injudicious placement of vaccination sites can lead to the formation of long waiting lines or , which discourages individuals from waiting to be vaccinated and may thus jeopardize the achievement of public health targets. Queueing theory offers a framework for modeling queue formation at vaccination sites and its effect on vaccine uptake.

A clinical decision support tool for improving venous thromboembolism risk assessment and thromboprophylaxis prescribing compliance within an electronic medication management system: a retrospective observational study.

Background: Despite various interventions to improve best-practice venous thromboembolism (VTE) prevention measures within hospitals, compliance remains poor. For health services utilising electronic medication management systems (eMMS), implementation of clinical decision support (CDS) tools could address this gap.

Aim: To evaluate whether local implementation of an integrated electronic alert system linked with a computerised physician order entry (CPOE)-based order set for VTE risk assessment within an eMMS improves the rates of timely VTE risk assessment and guideline-compliant VTE prophylaxis prescribing among hospitalised patients.

Coffee drinking timing and mortality in US adults.

Background And Aims: To identify the patterns of coffee drinking timing in the US population and evaluate their associations with all-cause and cause-specific mortality.

Methods: This study included 40 725 adults from the National Health and Nutrition Examination Survey 1999-2018 who had complete information on dietary data and 1463 adults from the Women's and Men's Lifestyle Validation Study who had complete data on 7-day dietary record. Clustering analysis was used to identify patterns of coffee drinking timing.

Food habit, physical activity and nutritional status of adolescents in selected schools of Madhyapur Thimi municipality, Nepal: A cross-sectional study.

A dramatic rise in obesity is caused by unhealthy eating habits combined with lower levels of physical activity, and the under nutrition problem is still unresolved. Focusing on the nutritional needs of adolescents could be a significant step toward breaking the vicious cycle of malnutrition, chronic diseases, and poverty. This study aims to assess food habit, levels of physical activity and nutritional status of adolescents in Madhyapur Thimi Municipality, Bhaktapur.

Burden of chronic obstructive pulmonary disease in adults aged 70 years and older, 1990-2021: Findings from the Global Burden of Disease Study 2021.

Background: Life expectancy at age 70 has continued to rise globally over the past 30 years. However, a comprehensive assessment of the burden of COPD in older adults is lacking. We aimed to estimate the burden of COPD and its attributable risk factors among adults aged ≥70 years.

Marital and living status and biological ageing trajectories: a longitudinal cohort study with a 20-year follow-up.

Biomarkers of ageing (BA) can predict health risks beyond chronological age, but little is known about how marital/living status affects longitudinal changes in BA. We examined the association between marital/living status and BA over time using the-Swedish-Adoption/Twin-Study-of-Aging (SATSA) cohort. Four BAs were analyzed: telomere length (TL) (638 individuals; 1603 measurements), DNAmAge (535 individuals; 1392 measurements), cognition (823 individuals; 3218 measurements), and frailty index (FI) (1828 individuals; 9502 measurements).

Using the Behaviour Change Wheel to develop an intervention to improve conversations about recovery on the stroke unit.

Background: Understanding recovery is important for patients with stroke and their families, including how much recovery is expected and how long it might take. These conversations can however be uncomfortable for stroke unit staff, particularly when they involve breaking bad news. This study aimed to begin development of a novel complex intervention to improve conversations about recovery on stroke units.

"They are not HIV treatments drugs; they are preventive drugs (PrEP)". Experiences of PrEP uptake among vulnerable adolescent girls and young women in Tanzania.

Introduction: HIV poses a significant global health concern, affecting adolescents among other populations. This is attributed to various vulnerabilities including biological factors, gender inequalities and limited access to comprehensive sexual and reproductive health services in sub-Saharan Africa. In Tanzania, adolescent girls, and young women (AGYW) face double the risk of HIV infection compared to their male counterparts.