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.

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.

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.

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.

An Ascaris lumbricoides infection diagnosed by colonoscopy: A case report and a brief literature review.

Background: Ascaris lumbricoides is a nematode that parasitizes the human gastrointestinal tract, and it is the cause of the most common helminthic infections worldwide. It predominates in areas of poor sanitation. Early diagnosis of this intestinal infection is pivotal to avoid its severe and lethal complications such as gut obstruction, volvulus, and perforation.

Outcomes of Extremely Preterm Infants Exposed to Prolonged Prelabor Rupture of Membranes before 24 Weeks of Gestation.

Background: Preterm prelabor rupture of membranes (PPROM) before or around the limit of fetal viability is associated with serious maternal and neonatal complications including chorioamnionitis, extremely preterm birth, and pulmonary hypoplasia.

Objectives: To describe contemporary outcomes of extremely preterm infants born after prolonged periviable PPROM, and to identify perinatal factors associated with survival and survival without severe neurodevelopmental impairment (NDI).

Study Design: Among actively treated infants born alive at <27 weeks' gestational age (GA) in centers of the Eunice Kennedy Shriver National Institute of Child Health and Human Development Neonatal Research Network from 2012 to 2018, the outcomes of survival and survival without severe NDI at 22-26 months' corrected age were compared between infants exposed to prolonged (≥120 hours) periviable (<24 weeks' GA) PPROM and unexposed infants born after rupture of membranes ≤18 hours before delivery or at delivery, adjusting for birth GA, sex, multiple gestation, antenatal steroids, small for gestational age (SGA), insurance, and center.

Improving pubertal health education for adolescent girls through a gamified learning approach.

Background: Adolescence is a crucial phase in a person's life. The purpose of this study was to evaluate the efficacy of gamification in the education of teenage females on pubertal health.

Methods: This clinical trial, conducted on 90 adolescent girls in XXX, XXX, during the 2023-2024 year, used a multistage cluster sampling method to assign participants randomly to intervention and control groups.

Risk of colorectal cancer associated with frequency of colorectal polyp diagnosis in relatives.

Background & Aims: We aimed to evaluate the association of frequency of polyp diagnosis in relatives with the risk of overall and early-onset colorectal cancer (CRC).

Methods: We leveraged data from nationwide Swedish family cancer datasets (1964-2018) to calculate standardized incidence ratios (SIRs) for individuals with a family history of polyp by frequency of polyp diagnosis in family members.

Results: We followed up 11,676,043 individuals for up to 54 years.

A Hospital-Based Initiative for Infant Safe Sleep Practice.

Objectives: To assess whether exposure to an infant safe sleep initiative was associated with maternal report of infant safe sleep practice at home and to identify other predictive factors.

Methods: After linking Pennsylvania data on infant safe sleep initiative implementation at 27 hospitals to birth certificate and Pregnancy Risk Assessment Monitoring System (PRAMS) data from 2017 to 2021, we generated descriptive statistics to compare infant safe sleep practice and other characteristics between respondents exposed to the initiative and all other PRAMS respondents with a hospital birth. Using multivariable logistic regression, we modeled the association between exposure to the initiative and maternal self-report of placing their infant to sleep on their back, on a separate surface, without soft objects, or room sharing without bed sharing.

Spotted fever group rickettsiae in black rats, pets, and humans in Zungarococha community, A rural area in the surroundings of Iquitos, Peru.

Rickettsiae are a family of ectoparasite-borne bacteria that can produce high morbidity and mortality among humans. There are scarce data on rickettsial ecology in rural areas of the Peruvian Amazon basin, where seroprevalence has not been determined, and the identities of animals acting as reservoirs of these bacteria are not known. We conducted a cross-sectional study in Zungarococha (between 2019 and 2021), a rural community located approximately 20 km away from Iquitos city.

Gender Gap? A Survey among Plastic Surgeons in Germany.

Introduction: There is an ongoing increase in the percentage of females in the field of Plastic Surgery in Germany. Currently, 29,1% of fellows and 46% of residents in Germany are female. Several studies have pointed out the various obstacles that female doctors, especially female plastic surgeons, are confronted with in their professional life.

Marriage and postpartum major depressive disorder: A systematic review and meta-analysis of cohort studies.

Many studies have explored the relationships between demographic variables and postpartum major depressive disorder. However, there is no clear conclusion on the impact of different marital statuses and quality on postpartum major depressive disorder. This systematic review and meta-analysis examined the combined effects of different marital status and quality on postpartum major depressive disorder with cohort studies.

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.

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.

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.

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.

A facile assay for zDHHC palmitoyl transferase activation elucidates effects of mutation and modification.

At least 10% of proteins constituting the human proteome are subject to S-acylation by a long-chain fatty acid, thioesterified to a Cys thiol side chain. Fatty S-acylation (prototypically, S-palmitoylation) operates across eukaryotic phylogeny and cell type. S-palmitoylation is carried out in mammalian cells by a family of 23-24 dedicated zDHHC palmitoyl transferase enzymes, and mutation of zDHHCs is associated with a number of human pathophysiologies.