Implementing Mutational Epidemiology on a Global Scale: Lessons from Mutographs.

The Mutographs Cancer Grand Challenge team aimed to discover unknown causes of cancer through mutational epidemiology, an alliance of cancer epidemiology and somatic genomics. By generating whole-genome sequences from thousands of cancers and normal tissues from more than 30 countries on five continents, it discovered unsuspected mutagenic exposures affecting millions of people, raised the possibility that some carcinogens act by altering forces of selection in tissue microenvironments rather than by mutagenesis, and demonstrated changes to the direction of somatic evolution in normal cells of the human body in response to exogenous exposures and noncancer diseases. See related article by Bressan et al.

The use of a ChatGPT-4-based chatbot in teledermatology: A retrospective exploratory study.

Background And Objectives: Integration of artificial intelligence in healthcare, particularly ChatGPT, is transforming medical diagnostics and may benefit teledermatology. This exploratory study compared image description and differential diagnosis generation by a ChatGPT-4 based chatbot with human teledermatologists.

Patients And Methods: This retrospective study compared 154 teledermatology consultations (December 2023-February 2024) with ChatGPT-4's performance in image descriptions and diagnoses.

Transient receptor potential melastatin 7 cation channel, magnesium and cell metabolism in vascular health and disease.

Preserving the balance of metabolic processes in endothelial cells (ECs) and vascular smooth muscle cells (VSMCs), is crucial for optimal vascular function and integrity. ECs are metabolically active and depend on aerobic glycolysis to efficiently produce energy for their essential functions, which include regulating vascular tone. Impaired EC metabolism is linked to endothelial damage, increased permeability and inflammation.

Gender Inequalities in Employment of Parents Caring for Children With Autism Spectrum Disorder in China: Cross-Sectional Study.

Background: The increasing need for child care is placing a burden on parents, including those with children with autism.

Objective: The aim of this study was to examine the employment status of Chinese mothers and fathers with children with autism spectrum disorder (ASD), as well as to investigate the factors that affected their employment decisions.

Methods: An online national survey was completed by the parents of 5018 children and adolescents with ASD aged 2-17 years (4837 couples, 181 single mothers, and 148 single fathers).

Effects of home-based interventions on cognitive performance in patients with dementia: A systematic review and meta-analysis.

Background: With increasing age, dementia is a common disease in the elderly population，especially Alzheimer's disease. Owing to the nature of the disease, the function of patients deteriorates, which places a heavy burden on the country and family. Home-based training programs have been shown to improve cognitive function in patients with dementia.

Physical Intimate Partner Violence Among Women Experiencing Homelessness Before and During Pregnancy.

Intimate partner violence (IPV) and homelessness can have devastating health consequences for pregnant women. Using the Pregnancy Risk Assessment Monitoring System, we assessed differences in the association of physical IPV before and/or during pregnancy with adverse health outcomes between women experiencing homelessness (WEH) and domiciled women. Among 186,891 respondents, representing an estimated 11,489,161 women, 27.

A registry-based approach for estimating county-level race disparities in breast cancer mortality: an analysis in Georgia.

Despite similar incidence rates, nationwide breast cancer mortality is 40% higher among non-Hispanic Black (NHB) than non-Hispanic White (NHW) women. The racial disparity persists even among women with early-stage disease, prognostically favorable subtypes, and indicators of high socioeconomic status and is not evenly distributed throughout the US. Understanding geographic differences may provide additional insight into the drivers of the disparity.

Exploring the gaps: A scoping review of burn injury research in skin of colour.

Burn injury management and outcomes reveal observed disparities in individuals with darker skin tones, likely influenced by limited representation in medical literature and clinical research. These gaps may contribute to variations in care quality and outcomes for these populations. A comprehensive literature search was conducted across PubMed, Scopus, and Embase databases, initially yielding 74 articles.

Mobile Health delivered physical activity after mild stroke or transient ischaemic attack. Is it feasible and acceptable?

Background And Aims: Physical activity is a key component of secondary stroke prevention. Mobile health (mHealth) interventions show promise for enhancing post-stroke physical activity, but most studies have combined mHealth with onsite services. This study evaluated the feasibility and acceptability of a fully digitalised mHealth intervention for physical activity among individuals post stroke or transient ischemic attack (TIA) in Sweden.

Prevalence of central sensitization and somatization in adults with temporomandibular disorders-a prospective observational study.

Temporomandibular disorders (TMD) comprise a group of conditions affecting the masticatory muscles, the temporomandibular joints and associated structures, often manifesting as orofacial pain and functional limitations of the mandible. Central sensitization (CS) is gaining increasing attention in research focused on pain syndromes and somatization, playing a significant role in the pain experience. This study investigates the prevalence of CS and somatization among TMD patients, analyzing their relationships with TMD diagnoses and the intensity of chronic masticatory muscle pain (MMP).

Dual PTCH2 mutation [Ser391*, Leu104Pro]: unveiling a potential new genetic susceptibility factor for glioma development.

Gliomas are a heterogeneous type of central nervous system tumor. The etiology of glioma formation remains elusive, with approximately 5% of gliomas being familial, underscoring the significance of understanding genetic susceptibility in glioma development. In this study, a dual germline PTCH2 mutation [Ser391*, Leu104Pro] was identified in a family with a history of glioma, and sequencing data from WES/SimcereDx Neuro-Onco 360 including 910 Chinese patients with glioma and 1666 patients with solid tumors were analyzed.

Prevalence and symptoms of Long Covid-19 in the workplace.

Background: The symptoms of Long coronavirus disease 2019 (Covid-19) are heterogeneous, creating uncertainty for employers regarding the diagnosis. The prevalence of Long Covid-19 in the workforce is also unknown. Furthermore, workers affected by Long Covid-19 encounter considerable difficulties in ensuring work safety and returning to their jobs due to this condition.

Impact of age-related changes in buccal epithelial cells on pediatric epigenetic biomarker research.

Cheek swabs, heterogeneous samples consisting primarily of buccal epithelial cells, are widely used in pediatric DNA methylation studies and biomarker creation. However, the decrease in buccal proportion with age in adults remains unexamined in childhood. We analyzed cheek swabs from 4626 typically developing children 2-months to 20-years-old.

Transformation and articulation of clinical data to understand students' clinical reasoning: a scoping review.

Background: Despite the importance of effective educational strategies to promote the transformation and articulation of clinical data while teaching and learning clinical reasoning, unanswered questions remain. Understanding how these cognitive operations can be observed and assessed is crucial, particularly considering the rapid growth of artificial intelligence and its integration into health education. A scoping review was conducted to map the literature regarding educational strategies to support transformation and articulation of clinical data, the learning tasks expected of students when exposed to these strategies and methods used to assess individuals' proficiency METHODS: Based on the Joanna Briggs Institute methodology, the authors searched 5 databases (CINAHL, MEDLINE, EMBASE, PsycINFO and Web of Science), ProQuest Dissertations & Theses electronic database and Google Scholar.

Understanding and measuring workplace violence in healthcare: a Canadian systematic framework to address a global healthcare phenomenon.

Background: Globally, healthcare institutions have seen a marked rise in workplace violence (WPV), especially since the Covid-19 pandemic began, affecting primarily acute care and emergency departments (EDs). At the University Health Network (UHN) in Toronto, Canada, WPV incidents in EDs jumped 169% from 0.43 to 1.

Tumor cell-derived N-acetyl-aspartyl-glutamate reshapes the tumor microenvironment to facilitate breast cancer metastasis.

Neurotransmitters are increasingly recognized to play important roles in limiting anti-tumor immunity. N-acetyl-aspartyl-glutamate (NAAG) has been extensively studied in neurological disorders; however, its potential role in restricting anti-tumor immunity has not been investigated. Here, we demonstrated that NAAG or its synthetase RimK-like family member B (RIMKLB) significantly disrupted anti-tumor immunity by rewiring the myeloid progenitor differentiation of polymorphonuclear myeloid-derived suppressor cells (PMN-MDSCs), which in turn promoted breast cancer growth and metastasis.

Prospective association of changes in (poly)phenol intake, body weight and physical activity with inflammatory profile.

Backgrounds And Aim: To prospectively evaluate the associations between changes in (poly)phenol intake, body weight(BW), and physical activity(PA) with changes in an inflammatory score after 1-year.

Methods And Results: This is a prospective observational analysis involving 484 participants from the PREDIMED-Plus with available inflammatory measurements. (Poly)phenol intake was estimated using a validated semi-quantitative food frequency questionnaire and the Phenol-Explorer database.

Investigating obstetrics and gynecology forensic cases at a tertiary health center in Turkey to demonstrate the significance of forensic evaluation.

Objectives: To assess the diagnostic rates of forensic case patients who sought gynecological and obstetrics care, as well as the differences in forensic report production based on the event.

Study Design: The following factors were looked into: age of the patients, time between the incident and consultation, reason for consultation (pregnancy determination during the post-divorce waiting period, sexual assault, hymen examination, physical violence, other), time of the consultation (in-hours or out-of-hours), place of referral (prosecutor's office/court, police station, own request), and type of report (final or preliminary). The data were obtained retrospectively.

Automated electronic health record-based screening for Fabry disease in unexplained left ventricular hypertrophy (FAPREV-HCM).

Background And Aims: Hypertrophic cardiomyopathy (HCM) has various aetiologies, including genetic conditions like Fabry disease (FD), a lysosomal storage disorder. FD prevalence in high-risk HCM populations ranges from 0.3% to 11.

Understanding the stroke burden in Saudi Arabia: Trends from 1990 to 2019 and forecasting through time series analysis.

Objectives: To describe age-standardized incidence and disability-adjusted life years (DALYs) of ischemic stroke (IS), intracerebral hemorrhage (ICH), and subarachnoid hemorrhage (SAH) in the Kingdom of Saudi Arabia (KSA) from 1990 to 2019 and forecast these variables using the Global Burden of Diseases (GBD) data over the next years (2020-2030).

Methods: Poisson regression models were employed to identify significant changes in incidence rate ratios (IRRs) and DALY rates for different stroke types. For time series models, the autoregressive integrated moving average (ARIMA) and exponential smoothing state space (ETS) models were used for forecasting.

Experiences of Māori and Pacific women recruited into a pregnancy clinical trial in Aotearoa, New Zealand: a Kaupapa Māori qualitative study.

Objectives: To explore the perspectives of Māori and Pacific women who participated in the Fish Oil study to ascertain what barriers and facilitators may exist for successfully recruiting Māori and Pacific women into clinical trials.

Design: A Kaupapa Māori qualitative study.

Setting: Auckland, New Zealand.

Comparison of Clinical and Radiological Outcomes of Three-Column Lumbar Osteotomies with and without Interbody Cages for Adult Spinal Deformity.

Background Context: Correcting sagittal malalignment in adult spinal deformity (ASD) is a challenging task, often requiring complex surgical interventions like pedicle subtraction osteotomies (PSOs). Different types of three-column osteotomies (3COs), including Schwab 3, Schwab 4, Schwab 4 with interbody cages, and the "sandwich" technique, aim to optimize alignment and fusion outcomes. The role of interbody cages in enhancing fusion and segmental correction remains unclear.

Destructive and Protective Effects and Therapeutic Targets of IL-36 Family Cytokines in Dry Eye Disease.

Purpose: To explore the destructive and protective effects and therapeutic targets of IL-36 cytokines in dry eye disease using a murine dry eye model.

Methods: A dry eye model was established in C57BL/6 mice exposed to desiccating stress (DS) with untreated mice as controls. A topical challenge model was performed in normal mice with exogenous rmIL-36α, rhIL-38 and 2% ectoine, or PBS vehicle.

Dehydroandrographolide Succinate Attenuates Dexamethasone-Induced Skeletal Muscle Atrophy by Regulating Akt/GSK3β and MuRF-1 Pathways.

Andrographis paniculata (AGPA) is known for its wide-ranging biological activities, including antiviral, antipyretic, and anticancer properties. However, its effects on muscle atrophy have not been well understood. This study investigates the impact of andrographolide (AD) and dehydroandrographolide succinate (DAS), key components of AGPA, on skeletal muscle atrophy using in vitro and in vivo models.