Actionable genetic variants in 4,198 Scottish participants from the Orkney and Shetland founder populations and implementation of return of results.

The benefits of returning clinically actionable genetic results to participants in research cohorts are accruing, yet such a genome-first approach is challenging. Here, we describe the implementation of return of such results in two founder populations from Scotland. Between 2005 and 2015, we recruited >4,000 adults with grandparents from Orkney and Shetland into the Viking Genes research cohort.

Hall Crown Technique Use Among USA Pediatric Dentists.

To examine the provider acceptance and clinical usage of the Hall technique (HT) among active pediatric dental members of the American Academy of Pediatric Dentistry ([AAPD] pediatric dentist member). A 19-item web-based survey was distributed to all AAPD pediatric dentist members using Qualtrics. This survey-based questionnaire was available from January 2024 to March 2024, included questions regarding demographics, and explored various clinical scenarios and the likelihood of a clinician to utilize the HT.

Age and sex differences in the prevalence of specific comorbidities among pediatric acute lymphoblastic leukemia and lymphoblastic lymphoma patients at diagnosis.

Limited knowledge exists on the prevalence of comorbidity among pediatric patients diagnosed with acute lymphoblastic leukemia (ALL) or lymphoblastic lymphoma (LL). To determine the prevalence of comorbidities present within 3 months before diagnosis among pediatric ALL/LL patients, and to examine if the prevalence varies by age, biological sex at birth, and race/ethnicity. We analyzed data on patients diagnosed with ALL/LL at ≤21 years of age from 1/1/2005 to 6/30/2020 (n=5,455), using electronic health records data from the TriNetX Research Network Database.

Hemodialysis Nonattendance: Patient Characteristics and Outcomes in a Single Renal Centre in North West England.

Introduction: Nonattendance for prescribed hemodialysis (HD) sessions is a form of nonadherence that compromises the delivery of life-sustaining HD therapy and is associated with severe morbidity and mortality. In this study, we aimed to assess the characteristics and outcomes of HD nonattenders in a single renal center in the North West of England.

Methods: HD patients followed by the renal team at our unit between December 2020 and September 2022 were included in this study.

Overseas- and locally-acquired sexually transmissible infections in Australia, 2017-2023.

Introduction: International travel is a significant contributor to the acquisition of sexually transmissible infections (STIs). Despite the high volume of outbound travel from Australia, peaking at 10.8 million travellers in 2023, limited data exist on the burden of overseas-acquired STIs.

Tensions and Opportunities in Nurse, Midwife, and Peer Worker Collaborations in Healthcare Delivery: A Scoping Review and Narrative Synthesis.

Aim: To explore the published literature on nurse/midwife and peer worker collaborations in healthcare services.

Design: Scoping review and narrative synthesis.

Methods: The framework proposed by Levac et al.

Interrogating Healthy Community Discourse in Municipal Policies: Priorities of a Medium-Sized CMA in Ontario, Canada.

The World Health Organization's movement recommends action on the determinants of health and health equity. While economic and ecological circumstances have been studied with respect to health outcomes, research shows that the relationship between these broad determinants and population health is not always clear. Municipal governments, whose relative proximity to individuals means that they are optimally situated to address local health concerns, can demonstrate political will for healthy communities by developing health community policies.

Systematic review exploring the burden of sexually transmissible infections and bloodborne viruses in refugees and asylum seekers: insights to inform policy and practice.

Background: In 2022, the number of refugees and asylum seekers (RAS) have reached an all-time high of 40.7 million globally. The surge in RAS, coupled with their limited access to healthcare (at their home and destination countries), has led to the risk of transmitting/acquiring sexually transmissible infections (STIs) and bloodborne viruses (BBVs).

Young People's Trust in Digital Sexual Healthcare: A Narrative Review.

Objectives: Trust has been identified as a key factor associated with supporting access to sexual health interventions and digital healthcare. We aimed to explore and synthesize factors that may cultivate trust for young people (10-24-year-old) when accessing digital sexual healthcare.

Methods: A total of 5950 articles were extracted from 5 databases (Scopus, PubMed, Embase, PsycINFO and CINAHL) and independently assessed for relevance by two researchers.

Ibrutinib plus venetoclax in relapsed or refractory mantle cell lymphoma (SYMPATICO): a multicentre, randomised, double-blind, placebo-controlled, phase 3 study.

Background: The combination of ibrutinib and venetoclax leverages complementary mechanisms of action and has shown promising clinical activity in mantle cell lymphoma (MCL). This study evaluated the efficacy and safety of ibrutinib-venetoclax compared with ibrutinib-placebo in patients with relapsed or refractory MCL.

Methods: SYMPATICO is a multicentre, randomised, double-blind, placebo-controlled, phase 3 study performed at 84 hospitals in Europe, North America, and Asia-Pacific.

PACS2, PACS1, and VACTERL: A Clinical Overlap.

Introduction: Whole-exome sequencing has led to the discovery of new genes involved in developmental delay. Two of these are the evolutionary linked proteins phosphofurin acidic cluster sorting protein 1 (PACS1) and phosphofurin acidic cluster sorting protein 2 (PACS2), which function as metabolic switches. We present a case of a patient with the previously described PACS2 c.

Cascade of testing for chlamydia and gonorrhoea inclusive of an annual health check in an urban Aboriginal Community Controlled Health Service.

Background To gain an understanding of chlamydia (CT) and gonorrhoea (NG) testing conducted within an annual health check (AHC) and in standard clinical consultations for clients aged 15-29years attending an urban Aboriginal Community Controlled Health Service in the period 2016-2021. Methods De-identified electronic medical record data were extracted and analysed on CT and NG testing by sex, age, Indigenous status and the context of testing (conducted within an AHC or not). An access, testing, and diagnosis cascade for CT and NG, inclusive of an AHC, was constructed.

Chlamydia and gonorrhoea testing and positivity within an urban Aboriginal and Torres Strait Islander Community Controlled Health Service 2016-2021.

Background This study describes chlamydia and gonorrhoea testing, positivity, treatment, and retesting among individuals aged ≥15years attending an urban Aboriginal Community Controlled Health Service during the period 2016-2021. Method Utilising routinely collected clinical data from the ATLAS program (a national sentinel surveillance network), a retrospective time series analysis was performed. The study assessed testing rates, positivity, treatment efficacy, retesting and trends over time within an urban Aboriginal Community Controlled Health Service.

Factors influencing experiences of non-consensual sex: results from a mixed data cross-sectional online survey of Australian university students.

Background The high prevalence of non-consensual sex, including physical force, verbal threats, intimidation, and/or verbal coercion and rape among university students, has prompted urgent calls for action from governments, statutory, and university bodies. This research aims to identify key factors students see as contributing to non-consensual sex with a view to developing effective strategies to address these issues. Methods An online cross-sectional survey was administered to 4291 university students attending universities in south-east Queensland, Australia.

Sexual and reproductive health content in Australian pre-registration nursing and midwifery programs: A review of curricula.

Aim: To identify and examine sexual and reproductive health (SRH) content in Australia's pre-registration undergraduate and postgraduate Nursing and Midwifery program curricula.

Background: Sexual and reproductive healthcare, integral to women's well-being, relies on Nursing and Midwifery workforce. However, it is unknown how pre-registration curricula prepares nurses and midwives to provide this care, despite international imperatives to enhance access.

Advancements in bioengineered and autologous skin grafting techniques for skin reconstruction: a comprehensive review.

The reconstruction of complex skin defects challenges clinical practice, with autologous skin grafts (ASGs) as the traditional choice due to their high graft take rate and patient compatibility. However, ASGs have limitations such as donor site morbidity, limited tissue availability, and the necessity for multiple surgeries in severe cases. Bioengineered skin grafts (BSGs) aim to address these drawbacks through advanced tissue engineering and biomaterial science.

STI/HIV risk prediction model development-A novel use of public data to forecast STIs/HIV risk for men who have sex with men.

A novel automatic framework is proposed for global sexually transmissible infections (STIs) and HIV risk prediction. Four machine learning methods, namely, Gradient Boosting Machine (GBM), Random Forest (RF), XG Boost, and Ensemble learning GBM-RF-XG Boost are applied and evaluated on the Demographic and Health Surveys Program (DHSP), with thirteen features ultimately selected as the most predictive features. Classification and generalization experiments are conducted to test the accuracy, F1-score, precision, and area under the curve (AUC) performance of these four algorithms.

Large-scale evaluation of outcomes after a genetic diagnosis in children with severe developmental disorders.

Purpose: We sought to evaluate outcomes for clinical management after a genetic diagnosis from the Deciphering Developmental Disorders study.

Methods: Individuals in the Deciphering Developmental Disorders study who had a pathogenic/likely pathogenic genotype in the DECIPHER database were selected for inclusion ( = 5010). Clinical notes from regional clinical genetics services notes were reviewed to assess predefined clinical outcomes relating to interventions, prenatal choices, and information provision.

Fetal growth restriction adversely impacts trajectory of hippocampal neurodevelopment and function.

The last pregnancy trimester is critical for fetal brain development but is a vulnerable period if the pregnancy is compromised by fetal growth restriction (FGR). The impact of FGR on the maturational development of neuronal morphology is not known, however, studies in fetal sheep allow longitudinal analysis in a long gestation species. Here we compared hippocampal neuron dendritogenesis in FGR and control fetal sheep at three timepoints equivalent to the third trimester of pregnancy, complemented by magnetic resonance image for brain volume, and electrophysiology for synaptic function.

A Collaborative and Scalable Geospatial Data Set for Arctic Retrogressive Thaw Slumps with Data Standards.

Arctic permafrost is undergoing rapid changes due to climate warming in high latitudes. Retrogressive thaw slumps (RTS) are one of the most abrupt and impactful thermal-denudation events that change Arctic landscapes and accelerate carbon feedbacks. Their spatial distribution remains poorly characterised due to time-intensive conventional mapping methods.

Consent to medical student teaching: an observational, cross-sectional study exploring the patient view.

Background: New Zealand guidelines stipulate that patient consent is obtained for medical student involvement in clinical care, however, patients' preferences regarding consent for medical student teaching have not been widely explored. This study examined patient preferences for consent for medical student teaching with the aim to increase patient empowerment, to optimise care and to reflect societal expectations more accurately.

Method: Observational, semi-qualitative, cross-sectional study of in-patients.

Chronic Inflammation Offers Hints About Viable Therapeutic Targets for Preeclampsia and Potentially Related Offspring Sequelae.

The combination of hypertension with systemic inflammation during pregnancy is a hallmark of preeclampsia, but both processes also convey dynamic information about its antecedents and correlates (e.g., fetal growth restriction) and potentially related offspring sequelae.

I feel your pain: higher empathy is associated with higher posterior default mode network activity.

Empathy is characterized as the ability to share one's experience and is associated with altruism. Previous work using blood oxygen level-dependent (BOLD) functional MRI (fMRI) has found that empathy is associated with greater activation in brain mechanisms supporting mentalizing (temporoparietal junction), salience (anterior cingulate cortex; insula), and self-reference (medial prefrontal cortex; precuneus). However, BOLD fMRI has some limitations that may not reliably capture the tonic experience of empathy.

Pre-exposure prophylaxis access, uptake and usage by young people: a systematic review of barriers and facilitators.

Background: Young people's sexual health decision-making, including decisions to access and adhere to HIV prevention strategies such as Pre-Exposure Prophylaxis (PrEP), are influenced by a range of internal and external factors. Synthesizing these factors is essential to guide the development of youth-focused PrEP health promotion strategies to contribute to international goals of ending HIV transmission.

Objective: To understand the individual, interpersonal, sociocultural and systemic barriers and facilitators to PrEP access, uptake and use experienced by young people 24 years and younger.