A Haplotype GWAS in Syndromic Familial Colorectal Cancer.

A previous genome-wide association study (GWAS) in colorectal cancer (CRC) patients with gastric and/or prostate cancer in their families suggested genetic loci with a shared risk for these three cancers. A second haplotype GWAS was undertaken in the same colorectal cancer patients and different controls with the aim of confirming the result and finding novel loci. The haplotype GWAS analysis involved 685 patients with colorectal cancer cases and 1642 healthy controls from Sweden.

Charge Reversal of the Uppermost Arginine in Sliding Helix S4-I Affects Gating of Cardiac Sodium Channel.

Several mutations of the uppermost arginine, R219, in the voltage-sensing sliding helix S4 of cardiac sodium channel Nav1.5 are reported in the ClinVar databases, but the clinical significance of the respective variants is unknown (VUSs). AlphaFold 3 models predicted a significant downshift of S4 in the R219C VUS.

Comprehensive Analysis of Gene Expression Alongside , , and Virulence Genes in Septicemic Using Real-Time PCR.

Sepsis is a serious worldwide health concern, and () is the main cause. This study investigates the co-expression of and , and genes in isolated from septicemic patients, aiming to clarify the interaction between virulence and resistance. This study evaluated 100 isolates from septicemic patients.

Predicting Early Death in Head and Neck Cancer-A Pilot Study.

The aim of this study was to evaluate biomarkers and biological characteristics of tumor biopsies from patients with head and neck cancer (HNC) to assess the risk of early death. Furthermore, we analyzed whether any combination of markers could be used for the prognostication of death within six months after cancer diagnosis. Patients diagnosed with HNC, receiving curative treatment decision at a multidisciplinary tumor board meeting, and who died within six months of diagnosis were included in this study.

Exploring Potential Complement Modulation Strategies for Ischemia-Reperfusion Injury in Kidney Transplantation.

The complement system plays a crucial role in regulating the inflammatory responses in kidney transplantation, potentially contributing to early decline in kidney function. Ischemia-reperfusion injury (IRI) is among the factors affecting graft outcomes and a primary contributor to delayed graft function. Complement activation, particularly the alternative pathway, participates in the pathogenesis of IRI, involving all kidney compartments.

Advancing Sustainable HIV Services Through Integration in Primary Healthcare in Sub-Saharan Africa: A Perspective on Practical Recommendations.

Sub-Saharan Africa continues to bear a disproportionate burden of the global HIV epidemic. Integrating HIV services into primary healthcare is a crucial strategy to accelerate progress towards ending the epidemic. However, several challenges hinder effective integration, including underfunding, human resource shortages, infrastructure limitations, weak health systems, and sociocultural factors.

The Novel Histological Prostatic Inflammation Score Helps Defining the Association Between Stromal and Glandular Inflammation with the Risk of Prostate Cancer at Prostate Biopsy.

There is emerging evidence of an inverse association between prostatic inflammation (PI) and prostate cancer (PCa) diagnosis and outcome. The Irani score, a validated system that scores PI according to the grade of stromal infiltration (Irani G) and the aggressiveness of glandular infiltration (Irani A), has indeed been found to be inversely associated with PCa diagnosis and outcome, but the presence of two categories (G and A) makes the performance of this score suboptimal. This study aimed to determine whether a novel prostatic inflammation score (PIS) that combines Irani G and A scores better defined the risk of being diagnosed with PCa at prostate biopsy (PBx).

Integrative proteogenomic analysis identifies COL6A3-derived endotrophin as a mediator of the effect of obesity on coronary artery disease.

Obesity strongly increases the risk of cardiometabolic diseases, yet the underlying mediators of this relationship are not fully understood. Given that obesity strongly influences circulating protein levels, we investigated proteins mediating the effects of obesity on coronary artery disease, stroke and type 2 diabetes. By integrating two-step proteome-wide Mendelian randomization, colocalization, epigenomics and single-cell RNA sequencing, we identified five mediators and prioritized collagen type VI α3 (COL6A3).

KLRB1 expression in nasopharyngeal mucosa as a prognostic biomarker in COVID-19 patients.

The resurgence of COVID-19 and the rise in severe outcomes emphasize the need for reliable prognostic markers to guide patient care and optimize ICU and hospital resources. This study investigates the potential of nasopharyngeal swabs to identify biomarkers that predict ICU admission or death in hospitalized COVID-19 patients. We analyzed nasopharyngeal exudates from 95 hospitalized patients in 2020 using high-plex RNA quantification on the NanoString nCounter platform.

Challenges of healthcare financing in the world's largest refugee camp: a mixed-method study among healthcare stakeholders for Rohingya refugees in Bangladesh.

Objectives: This study aimed to increase the understanding of healthcare stakeholders' viewpoints on the challenges and potential solutions regarding healthcare financing for the Rohingya refugees in Cox's Bazar.

Design: A mixed-method approach, containing semi-structured interviews with healthcare stakeholders and review of financial documents, was employed. Thematic analysis was performed to analyse the transcripts.

Individual patterns of activity predict the response to physical exercise as an intervention in mild to moderate depression.

Physical exercise (PE) as antidepressive intervention is a promising alternative, as shown by multiple meta-analyses. However, there is no consensus regarding optimal intensity and duration of exercise, and there are no objective criteria available for personalized indication of treatment. The aims of this study were (1) to evaluate whether individual activity patterns before intervention can predict the response to treatment; and (2) to evaluate whether the patient outcome can be improved by using prior information on treatment efficacy at individual level.

Molecular allergy diagnosis enabling personalized medicine.

Allergic patients are characterized by complex and patient-specific IgE sensitization profiles to various allergens, which are accompanied by different phenotypes of allergic disease. Molecular allergy (MA) diagnosis establishes the patient's IgE reactivity profile at a molecular allergen level and has moved allergology into the "Precision Medicine" era. Molecular allergology started in the late 1980s with the isolation of the first allergen-encoding DNA sequences.

One hundred thirty-four germ line PU.1 variants and the agammaglobulinemic patients carrying them.

Leukopoiesis is lethally arrested in mice lacking the master transcriptional regulator PU.1. Depending on the animal model, subtotal PU.

How is maternal employment associated with infant and young child feeding in Bangladesh? A systematic literature review and meta-analysis.

Background: In the last three decades, the increasing trend in female employment in Bangladesh has been critically analyzed from a socioeconomic point of view; however, its impact on infant and young child feeding (IYCF) practices has yet to be systematically reviewed. The aim of this systematic review and meta-analysis is to investigate the association between these variables.

Methods: A systematic literature search was conducted in PubMed, Medline, Web of Science, Embase, CINAHL, and Google Scholar to retrieve relevant records with no restriction of publication period.

Young, female and scientist: exploring barriers, challenges and opportunities.

Different societal, systemic and personal barriers exist at various stages along a female researcher's career that can potentially undermine their success. The equation for women to reach higher positions in STEM is a multivariable one, and while there has been considerable progress towards addressing some of these compared with the past, current solutions are inadequate and do not address all facets. Here, we asked female winners of the FEBS Open Bio poster prize about their experiences regarding barriers they have faced at the predoctoral and postdoctoral stages, their opinions on how these can be addressed and their advice to new students entering a PhD degree.

Bayesian Spatial Relative Survival Model to Estimate the Loss in Life Expectancy and Crude Probability of Death for Cancer Patients.

To date, there have not been any population-based cancer studies quantifying geographical patterns of the loss in life expectancy (LLE) and crude probability of death due to cancer ( ). These absolute measures of survival are complementary to the more typically used relative measures of excess mortality and relative survival, and, together, they provide a fuller understanding of geographical disparities in survival outcomes for cancer patients. We propose using a spatially flexible parametric relative survival model in the Bayesian framework, which allows for the inclusion of spatial effects in hazard-level model components.

Reliability and Accuracy of Standard Reference Procedures for Measurements of Trunk and Arm Postures in Ergonomics.

Adequate reference procedures for obtaining the reference zero-angle position are important for precise and accurate posture measurements, but few studies have systematically investigated these. A limited number of previous studies suggest differences in accuracy between procedures, with some causing an underestimation of the true arm elevation angle when sensors are taped to the skin. The reliability of commonly used reference procedures for the measurement of the trunk posture is also not well explored, and alternative procedures may improve precision.

Short-term outcomes from the 'Watch and Wait' (WoW) study: prospective cohort study.

Background: Despite absence of level 1 evidence on the long-term oncological safety of non-operative management for rectal cancer (watch and wait), increased implementation has occurred globally over the past decades. In Sweden, a pan-national prospective non-randomized study was initiated in 2017 to assess its implementation.

Method: Patients with biopsy-proven rectal cancer receiving neoadjuvant therapy according to national guidelines in whom a clinical complete response was detected at reassessment were eligible for inclusion following informed consent.

Evaluation of an updated educational intervention on nutritional care to prevent undernutrition among older adults in primary health care.

Aim: The aim of this study was to evaluate district nurses' perceived and factual knowledge about nutritional care after an updated and expanded educational intervention. Furthermore, we aimed to compare the outcomes of the revised and the original educational intervention.

Background: In-depth knowledge of nutritional care is a prerequisite to supporting older adults' well-being and health.

The scope of emergency nursing viewed through the lens of complex adaptive systems: A discussion paper.

Across the world, emergency department nurses care for patients around the clock all year long. They perform tasks ranging from direct nursing care to managing patient flow, working in an environment characterised by interdependencies among numerous actors. The complex context in which emergency nurses operate has not been thoroughly described or discussed, indicating a knowledge gap.

Colorectal carcinogenesis in the Lynch syndromes and familial adenomatous polyposis: trigger events and downstream consequences.

Carcinogenesis encompasses processes that lead to increased mutation rates, enhanced cellular division (tumour growth), and invasive growth. Colorectal cancer (CRC) carcinogenesis in carriers of pathogenic APC (path_APC) and pathogenic mismatch repair gene (path_MMR) variants is initiated by a second hit affecting the corresponding wild-type allele. In path_APC carriers, second hits result in the development of multiple adenomas, with CRC typically emerging after an additional 20 years.

Challenges and possibilities when doing research on active school travel interventions in a school setting - a non-randomized pilot study assessing feasibility of an evaluation design.

Background: A wide range of school interventions have been launched to increase childrens' physical activity. Evaluation of the effectiveness of interventions requires suitable study designs and feasible quantitative evaluations relating to the school setting. The purpose of this study was to assess the evaluation design and methods for data collection, in order to make decisions about approaching forthcoming studies of the effectiveness of active school travel (AST) interventions.