The Unrealized Potential of Cascade Testing
Genetics and Genomics
New research and findings from open-access journals and the U.S. research agencies.
Genetics and Genomics
Equity, Diversity, and Inclusion
This randomized clinical trial examines whether nasal continuous positive airway pressure (CPAP) is noninferior to nasal intermittent positive pressure ventilation (IPPV) as primary respiratory support for reducing intubation within 72 hours in preterm infants with respiratory distress syndrome.
This cohort study examines the association of initiated and sustained use of antidiabetic medications with risk for dementia, psychiatric emergency department use, or psychiatric hospitalization among older adults in the Veterans Affairs health care system.
This cross-sectional study of US adults assesses associations among barriers to healthy eating, sociodemographic characteristics, and health conditions driven by poor diet.
This cohort study evaluates the suitability of using social risk indices calculated with higher-level geographies and clinic addresses to measure patient-level exposures.
This case control study compares the odds of human papillomavirus (HPV)–related cancers in people with HIV and solid organ transplant recipients vs healthy controls and assesses how clinical and sociodemographic factors modify these associations.
This randomized clinical trial compares urinary tract infection incidence in patients aged 16 years or older using single-use vs reusable catheters in Dutch hospitals.
This cross-sectional study examines how often family members undergo cascade testing and evaluates demographic, socioeconomic, and clinical factors associated with this process
This cross-sectional study examines incidence trends of invasive breast cancer in Asian American, Native Hawaiian, and Pacific Islander females in the US.
by Mulugeta Ayalew Yimer, Alemayehu Teklu Toni, Nahom Worku Teshager, Degalem Tilahun Worku, Mulat Asrade Alemayehu, Yalew Melkamu Molla, Zewudu Andualem, Asefa Adimasu Tadesse Background Childhood cancer survival in low-income countries remains below 20%, with late recognition and delayed referral commonly reported. In Northwest Ethiopia, care providers often lack the knowledge, skills, and support systems for recognizing early warning signs of pediatric malignancies. Community caregivers often present only after symptoms become advanced. The University of Gondar Comprehensive Specialized…
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Objectives To assess the outcomes of patients undergoing open abdominal surgery at a National Referral Hospital in Tanzania. Design A prospective, observational, single-arm cohort study. Setting Dar es Salaam, Tanzania. Participants Patients who underwent open abdominal surgery between August 2022 and July 2023 were included. Patients were enrolled if they provided informed consent to participate and were ≥18 years of age. Patients were excluded if they were lost to follow-up, were admitted outside the department of surgery or were still admitted since the index surgery at the end of the…
Objective To assess changes in lipid-lowering therapy (LLT) use and low-density lipoprotein cholesterol (LDL-C) goal attainment through 1-year follow-up in patients stratified by diabetes status in SANTORINI (Treatment of High and Very High riSk Dyslipidemic pAtients for the PreveNTion of CardiOvasculaR Events in Europe – a MultInatioNal ObservatIonal study). Design Prospective, observational study. Setting 623 primary (general practitioners, internal medicine specialists or internists) and secondary (cardiologists, diabetologists, lipidologists or neurologists) care sites in 14 European…
Background Problem gambling among sexual and gender diversity (SGD) populations has received increasing attention in research. While the literature shows that these populations are more likely than others to experience addiction and mental health issues, little is known about gambling among them. In our online survey (n=1519), a group of SGD participants reported problematic gambling practices. Objective The present study, conducted as part of a broader mixed-methods study on gambling among SGD populations, aimed to gather qualitative data to gain insight into why problem gambling seemed high…
Objective To investigate whether IgG to severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) antigens could reveal undetected SARS-CoV-2 exposure in a cohort of Malawian pregnant women participating in the REVAMP clinical trial. Design A secondary analysis of serological samples from a randomised controlled trial of iron supplementation in pregnancy, which began recruiting women in November 2018 and had its last visit occurring in September 2021. Setting Resource-limited setting in Zomba and Blantyre, Southern Malawi. Participants Pregnant women with ultrasound-confirmed singleton…
Introduction Interest in cold-stored platelets (CSP) has seen a resurgence over the last 20 years, having not been clinically used since the 1980s. A multitude of in vitro studies have reported positive characteristics such as improved haemostatic function and longer storage duration in CSP compared with their room-temperature-stored counterparts. More recently, CSP have been investigated in clinical trials and used to improve supply chain resilience in some settings. This systematic review and meta-analysis will synthesise and describe the published evidence on the therapeutic use of CSP to…
Background In singleton pregnancies, gestational diabetes mellitus (GDM) causes maternal and neonatal complications. However, this association remains unclear in twin pregnancies. This study aimed to investigate the association between GDM and obstetric outcomes specifically in twin pregnancies. Methods A retrospective cohort study was conducted among women with twin pregnancies from January 2018 to July 2022. Maternal and neonatal outcomes were compared between women with and without GDM. Adjusted ORs, 95% CIs and SEs were estimated using logistic regression, adjusting for maternal age…
Objective To explore how physiotherapists and osteopaths who use manual therapy in New Zealand conceptualise, reason about and manage upper back pain (UBP), a clinically relevant but inconsistently defined musculoskeletal presentation. Design Qualitative study using semistructured interviews and reflexive thematic analysis. The study was conducted and reported in accordance with best-practice qualitative guidance, including Consolidated Criteria for Reporting Qualitative Studies. Setting Private and public musculoskeletal practice settings across New Zealand. Participants 17 physiotherapists…
Objectives Lead and mercury are recognised as critical determinants of population health, especially for children and pregnant women. Few UK cohorts have measured lead or mercury in pregnant women since 1990. The aims of this study are to: (1) quantify lead and mercury exposures in a sample of pregnant women in the UK; (2) document concentrations over time in pregnant women in the UK; and (3) compare concentrations with international data. Design Whole blood samples were obtained from pregnant women in a quantitative arm of the Pregnancy, the Environment And nutRition Study in a…
Background Existing research on work engagement among rural nurses is relatively limited. Based on the job demands-resources (JD-R) model, this study aims to identify profiles of work engagement among rural nurses, explore associated factors and derive actionable policy implications. Methods A multicentre cross-sectional study was conducted on 848 rural nurses in Hunan from June to August 2024. The survey used self-administered general information questionnaires and work engagement scales. Latent profile analysis (LPA) was used to identify latent profiles of work engagement. Multinomial…
Background Childhood obesity remains high in the UK, with a higher prevalence among children from ethnic minority groups. The ‘Healthy Madrasa’ programme was developed and implemented in Bradford, UK, to support obesity prevention in Muslim children by working with Islamic religious settings such as madrasas. Objectives The aim of this study was to explore how the ‘Healthy Madrasa’ programme could be adapted for delivery in another UK city where the proportion of people from the Muslim faith is lower and the ethnic composition is more diverse. Design A qualitative study involving a…
Introduction Infertility treatment represents a major reproductive health issue globally, affecting 8%–12% of couples, with heightened prevalence and psychosocial burdens in pronatalist contexts like Iran where cultural and religious norms intensify stigma, emotional distress, marital strain and financial challenges for men, women and couples. Despite growing qualitative research on these experiences within Iran’s healthcare system, findings remain fragmented, limiting higher-order insights into shared challenges, coping mechanisms and relational dynamics. In addition, socioreligious…
Introduction Infertility is a major public health concern, and many individuals face substantial barriers to accessing fertility care. Across jurisdictions, regulations, eligibility criteria and funding frameworks for fertility care vary considerably, particularly in relation to lesbian, gay, bisexual, transgender, intersex and queer/questioning people (LGBTIQ+), as well as unpartnered individuals. Moreover, existing definitions and prevalence estimates of infertility are largely derived from studies of heterosexual couples which may underestimate the need for fertility care among other…