Variants in the autoimmune disease risk locus influence the regulatory network in immune cells and salivary gland.

Fine mapping and bioinformatic analysis of the genetic risk association in Sjögren's Disease (SjD) and Systemic Lupus Erythematosus (SLE) identified five common SNPs with functional evidence in immune cell types: rs4938573, rs57494551, rs4938572, rs4936443, rs7117261. Functional interrogation of nuclear protein binding affinity, enhancer/promoter regulatory activity, and chromatin-chromatin interactions in immune, salivary gland epithelial, and kidney epithelial cells revealed cell type-specific allelic effects for all five SNPs that expanded regulation beyond effects on and expression. Mapping the local chromatin regulatory network revealed several additional genes of interest, including .

A Comparison of Structural Variant Calling from Short-Read and Nanopore-Based Whole-Genome Sequencing Using Optical Genome Mapping as a Benchmark.

The identification of structural variants (SVs) in genomic data represents an ongoing challenge because of difficulties in reliable SV calling leading to reduced sensitivity and specificity. We prepared high-quality DNA from 9 parent-child trios, who had previously undergone short-read whole-genome sequencing (Illumina platform) as part of the Genomics England 100,000 Genomes Project. We reanalysed the genomes using both Bionano optical genome mapping (OGM; 8 probands and one trio) and Nanopore long-read sequencing (Oxford Nanopore Technologies [ONT] platform; all samples).

Accuracy of glomerular filtration rate estimation using creatinine and cystatin C for identifying and monitoring moderate chronic kidney disease: the eGFR-C study.

Background: Estimation of glomerular filtration rate using equations based on creatinine is widely used to manage chronic kidney disease. In the UK, the Chronic Kidney Disease Epidemiology Collaboration creatinine equation is recommended. Other published equations using cystatin C, an alternative marker of kidney function, have not gained widespread clinical acceptance.

Knowledge and Practice in Cochlear Re-Implantation in the UK: A Survey for Audiologists.

Background: Cochlear implantation (CI) has proven to be a highly effective method for rehabilitating individuals with severe to profound hearing loss. However, challenges persist, particularly in cases where CI failure necessitates re-implantation. This study aims to address the gap in understanding the knowledge and practices of audiologists in the UK regarding cochlear re-implantation through a comprehensive questionnaire survey.

Malaria and typhoid fever co-infection: a retrospective analysis of University Hospital records in Nigeria.

Background: Studies have long documented the presence of malaria and typhoid fever in sub-Saharan Africa (SSA). However, studies on these diseases have primarily concentrated on rural settings, neglecting the potential impact on urban areas. This knowledge gap hinders effective surveillance and intervention strategies.

Peri-operative care of transgender and gender-diverse individuals: guidance for clinicians and departments.

Introduction: The objective of this document is to guide best practice to ensure the safety and dignity of transgender and gender-diverse people in the peri-operative period. While transgender and gender-diverse people may have specific health needs in relation to gender dysphoria, their health requirements go beyond their gender identity. Most doctors will provide care to someone who is transgender or gender-diverse at some stage in their career.

Translated and culturally adapted internet-delivered cognitive therapy for social anxiety disorder in Japanese clinical settings: study protocol for a randomised controlled trial.

Background: Cognitive therapy for social anxiety disorder (CT-SAD) has extensive empirical support and is recommended in several national guidelines. However, ensuring access to evidence-based psychological therapies such as CT-SAD remains a global challenge. An internet-delivered version of this treatment protocol (iCT-SAD) has recently been developed in the UK as a way to overcome this challenge, demonstrating comparable outcomes to face-to-face CT-SAD whilst requiring less therapist time per client.

Re-thinging Embodied and Enactive Psychiatry: A Material Engagement Approach.

Emerging consensus among enactivist philosophers and embodied mind theorists suggests that seeking to understand mental illness we need to look out of our skulls at the ecology of the brain. Still, the complex links between materiality (in broadest sense of material objects, habits, practices and environments) and mental health remain little understood. This paper discusses the benefits of adopting a material engagement approach to embodied and enactive psychiatry.

How many future dementia cases would be missed by a high-risk screening program? A retrospective cohort study in a population-based cohort.

Introduction: Risk prediction models aim to identify those at high risk to receive targeted interventions. We aimed to identify the proportion of future dementia cases that would be missed by a high-risk screening program.

Methods: We identified validated dementia risk prediction models from systematic reviews.

Leveraging artificial intelligence in vaccine development: A narrative review.

Vaccine development stands as a cornerstone of public health efforts, pivotal in curbing infectious diseases and reducing global morbidity and mortality. However, traditional vaccine development methods are often time-consuming, costly, and inefficient. The advent of artificial intelligence (AI) has ushered in a new era in vaccine design, offering unprecedented opportunities to expedite the process.

Efficacy of indocyanine green fluoroscopy for sentinel node biopsy in head and neck melanoma: a systematic review and meta-analysis.

The objective of this review was to conduct a systematic review and meta-analysis on the efficacy of ICG (indocyanine green) for sentinel lymph node (SLN) detection in head and neck melanoma. The Preferred Reporting Items for Systematic reviews and Meta-Analyses statement standards (PRISMA) were followed when conducting this review with a comprehensive search of the following online databases; Google Scholar, PubMed, MEDLINE, CINAHL, and CENTRAL, World Health Organization International Clinical Trials Registry (http://apps.who.

Paediatric Anatomical Models in Radiotherapy Applications.

Anatomical models have key applications in radiotherapy, notably to help understand the relationship between radiation dose and risk of developing side effects. This review analyses whether age-specific computational phantoms, developed from healthy subjects and paediatric cancer patient data, are adequate to model a paediatric population. The phantoms used in the study were International Commission on Radiological Protection (ICRP), 4D extended cardiac torso (XCAT) and Radiotherapy Paediatric Atlas (RT-PAL), which were also compared to literature data.

Comparing cervical cerclage, pessary and vaginal progesterone for prevention of preterm birth in women with a short cervix (SuPPoRT): A multicentre randomised controlled trial.

Background: Cervical cerclage, cervical pessary, and vaginal progesterone have each been shown to reduce preterm birth (PTB) in high-risk women, but to our knowledge, there has been no randomised comparison of the 3 interventions. The SuPPoRT "Stitch, Pessary, or Progesterone Randomised Trial" was designed to compare the rate of PTB <37 weeks between each intervention in women who develop a short cervix in pregnancy.

Methods And Findings: SuPPoRT was a multicentre, open label 3-arm randomised controlled trial designed to demonstrate equivalence (equivalence margin 20%) conducted from 1 July 2015 to 1 July 2021 in 19 obstetric units in the United Kingdom.