Insights on the Genetic and Phenotypic Complexities of Optic Neuropathies.

/: Optic neuropathies are a category of illnesses that ultimately cause damage to the optic nerve, leading to vision impairment and possible blindness. Disorders such as dominant optic atrophy (DOA), Leber hereditary optic neuropathy (LHON), and glaucoma demonstrate intricate genetic foundations and varied phenotypic manifestations. This narrative review study seeks to consolidate existing knowledge on the genetic and molecular mechanisms underlying ocular neuropathies, examine genotype-phenotype correlations, and assess novel therapeutic options to improve diagnostic and treatment methodologies.

Obsessive-Compulsive Symptoms in the General Population Under Stressful Conditions: Lessons Learned from the COVID-19 Pandemic.

: The COVID-19 pandemic had a negative impact on mental health in the general population. The fear, stress, and uncertainty surrounding that traumatic period could have contributed to the aggravation or possible new onset of obsessive-compulsive symptoms. The COvid Mental hEalth Trial (COMET) is a nationwide project organized by the University of Campania "Luigi Vanvitelli", designed as an observational investigation that aimed to gather data from a representative sample of the Italian general population.

Standardizing Domains and Metrics of Stroke Recovery: A Systematic Review.

Background And Aims: Measuring stroke recovery poses a significant challenge, given the complexity of the recovery process. We aimed to identify a standardized and data-driven set of metrics of stroke rehabilitation in the literature that ensures the inclusion of all recovery domains and subdomains in the literature.

Methods: A systematic review was conducted by four reviewers using the PRISMA guidelines on PubMed, MEDLINE, and Embase for stroke recovery articles between 2004 and 2024.

Characteristics of older patients undergoing surgery in the UK: SNAP-3, a snapshot observational study.

Background: Frailty and multimorbidity are common in older adults, but the prevalence and interaction of these conditions in surgical patients remain unclear. This study describes the clinical characteristics of a heterogeneous cohort of older UK surgical patients.

Methods: We conducted a prospective observational cohort study during 5 days in March 2022, aiming to recruit all UK patients aged 60 yr and older undergoing surgery, excluding minor procedures (e.

Effect of psilocybin versus escitalopram on depression symptom severity in patients with moderate-to-severe major depressive disorder: observational 6-month follow-up of a phase 2, double-blind, randomised, controlled trial.

Background: Psilocybin therapy (PT) produces rapid and persistent antidepressant effects in major depressive disorder (MDD). However, the long-term effects of PT have never been compared with gold-standard treatments for MDD such as pharmacotherapy or psychotherapy alone or in combination.

Methods: This is a 6-month follow-up study of a phase 2, double-blind, randomised, controlled trial involving patients with moderate-to-severe MDD.

A Rare Case of High-Pressure Paint Injection Causing a Penetrating Neck Injury.

We report a case of a 45-year-old gentleman who presented to our major trauma centre after sustaining a penetrating high-pressure paint injection injury to the neck. This rare mechanism of injury is most commonly reported to affect the non-dominant hand, occurring due to the malfunction or misuse of industrial paint machines, causing a piercing soft tissue injury with high-pressure fluid. The unique challenges faced in managing penetrating injuries to the neck are due to the density of vital visceral structures in the region, including major blood vessels and the upper aerodigestive tract.

An overview of proactive monitoring and management of respiratory issues in ataxia-telangiectasia in a specialist and shared care pediatric clinic.

Ataxia-telangiectasia (A-T) is an ultrarare autosomal recessive disorder and occurs in all racial and ethnic backgrounds. Clinically, children and young people with A-T are affected by sinopulmonary infections, neurological deterioration with concomitant bulbar dysfunction, increased sensitivity to ionizing radiation, immunodeficiency, a decline in lung function, chronic liver disease, endocrine abnormalities, cutaneous and deep-organ granulomatosis, and early death. Pulmonary complications become more frequent in the second decade of life and are a leading cause of death in individuals with A-T.

Enhancing oncolytic virotherapy by extracellular vesicle mediated microRNA reprograming of the tumour microenvironment.

Background: There has been limited success of cancer immunotherapies in the treatment of ovarian cancer (OvCa) to date, largely due to the immunosuppressive tumour microenvironment (TME). Tumour-associated macrophages (TAMs) are a major component of both the primary tumour and malignant ascites, promoting tumour growth, angiogenesis, metastasis, chemotherapy resistance and immunosuppression. Differential microRNA (miRNA) profiles have been implicated in the plasticity of TAMs.

Prevalence of chlamydia, gonorrhoea, and trichomoniasis among male and female general populations in sub-Saharan Africa from 2000-2024: A systematic review and meta-regression analysis.

Background: Sub-Saharan Africa (SSA) has the highest sexually transmitted infection (STI) prevalence globally, but information about trends and geographic variation is limited by sparse aetiologic studies, particularly among men. This systematic review assessed chlamydia, gonorrhoea, and trichomoniasis prevalence by sex, sub-region, and year, and estimated male-to-female prevalence ratios for SSA.

Methods: We searched Embase, MEDLINE, Global Health, PubMed, and African Index Medicus for studies measuring STI prevalence among general populations from January 1, 2000, to September 17, 2024.

Prioritizing protein targets for dyslipidaemia and cardiovascular diseases using Mendelian randomization in South Asians.

South Asians are at higher risk of dyslipidaemia-a modifiable risk factor for cardiovascular diseases (CVDs). We aimed to identify protein targets for dyslipidaemia and CVDs in this population. We used a two-sample Mendelian randomization (MR) approach, supplemented with MR-Egger, weighted median, colocalization, and generalized MR (GMR), to evaluate the effect of 2,800 plasma proteins on high/low/non-high-density lipoprotein cholesterol (HDL-C/LDL-C/nonHDL-C), total cholesterol, and triglycerides.

Evaluation of the effect of 48 weeks of BIC/F/TAF and DRV/c/F/TAF on platelet function in the context of rapid ART start.

Introduction: The BIC-T&T study aimed to determine the efficacy of bictegraviremtricitabine/tenofovir alafenamide (BIC/F/TAF) and darunavir/cobicistat/emtricitabinetenofovir alafenamide (DRV/c/F/TAF) at suppressing viral load in a two-arm, open-label, multi-centre, randomised trial under a UK test-and-treat setting. This sub-study aimed to evaluate potential off-target cardiovascular impact by examining platelet function.

Methods: Platelets were isolated by centrifugation of citrated blood from participants attending Chelsea and Westminster Hospital or St Mary's Hospital at Week 48 following enrolment.

Capture, mutual inhibition and release mechanism for aPKC-Par6 and its multisite polarity substrate Lgl.

The mutually antagonistic relationship of atypical protein kinase C (aPKC) and partitioning-defective protein 6 (Par6) with the substrate lethal (2) giant larvae (Lgl) is essential for regulating polarity across many cell types. Although aPKC-Par6 phosphorylates Lgl at three serine sites to exclude it from the apical domain, aPKC-Par6 and Lgl paradoxically form a stable kinase-substrate complex, with conflicting roles proposed for Par6. We report the structure of human aPKCι-Par6α bound to full-length Llgl1, captured through an aPKCι docking site and a Par6 contact.

FAecal micRobiota transplantation in primary sclerosinG chOlangitis (FARGO): study protocol for a randomised, multicentre, phase IIa, placebo-controlled trial.

Introduction: Primary sclerosing cholangitis (PSC) is the classical hepatobiliary manifestation of inflammatory bowel disease (IBD). The strong association between gut and liver inflammation has driven several pathogenic hypotheses to which the intestinal microbiome is proposed to contribute. Pilot studies of faecal microbiota transplantation (FMT) in PSC and IBD are demonstrated to be safe and associated with increased gut bacterial diversity.

Birth weight and head circumference for 22-29 weeks gestation neonates from an international cohort.

Objective: Size at birth is a key indicator of in utero growth. Our objective was to generate sex-specific percentiles for birth weight and head circumference in neonates born between 22 and 29 weeks gestation from pregnancies without hypertension or diabetes and assess differences between vaginal and caesarean births and between singletons and twins.

Methods: We used data from 12 countries participating in the International Network for Evaluating Outcomes in Neonates database from 2007 to 2021.

Lysoglycerophospholipid metabolism alterations associated with ambient fine particulate matter exposure: Insights into the pro-atherosclerotic effects.

The biological pathways connecting ambient fine particulate matter (PM)-induced initial adverse effects to the development of atherosclerotic cardiovascular diseases are not fully understood. We hypothesize that lysoglycerophospholipids (LysoGPLs) are pivotal mediators of atherosclerosis induced by exposure to PM. This study investigated the changes of LysoGPLs in response to PM exposure and the mediation role of LysoGPLs in the pro-atherosclerotic effects of PM exposure.

A Core Outcome Set for Adult General ICU Patients.

Objectives: Randomized clinical trials informing clinical practice (e.g., like large, pragmatic, and late-phase trials) should ideally mostly use harmonized outcomes that are important to patients, family members, clinicians, and researchers.

Organic matter and biomarkers: Why are samples required?

The search for evidence of past prebiotic or biotic activity on Mars will be enhanced by the return of samples to Earth laboratories. While impressive analytical feats have been accomplished by in situ missions on the red planet, accessing the capabilities of Earth's global laboratories will present a step change in data acquisition. Highly diagnostic markers of past life are biomarkers, organic molecules whose architecture can be attributed to once living organisms.

NMR spectroscopy derived plasma biomarkers of inflammation in human populations: Influences of age, sex and adiposity.

Understanding the distribution and variation in inflammatory markers is crucial for advancing our knowledge of inflammatory processes and evaluating their clinical utility in diagnosing and monitoring acute and chronic disease. 1H NMR spectroscopy of blood plasma and serum was applied to measure a composite panel of inflammatory markers based on acute phase glycoprotein signals (GlycA and GlycB) and sub-regions of the lipoprotein derived Supramolecular Phospholipid Composite signals (SPC1, SPC2 and SPC3) to establish normal ranges in two healthy, predominantly white cohorts from Australia (n = 398) and Spain (n = 80; ages 20-70 years). GlycA, GlycB, SPC1 and SPC3 were not significantly impacted by age or sex, but SPC2 (an HDL-related biomarker) was significantly higher in women across all age ranges by an average of 33.

Intraventricular Hemorrhage and Survival, Multimorbidity, and Neurodevelopment.

Importance: Intraventricular hemorrhage (IVH) has proven to be a challenging and enduring complication of prematurity. However, its association with neurodevelopment across the spectrum of IVH severity, independent of prematurity, and in the context of contemporary care remains uncertain.

Objective: To evaluate national trends in IVH diagnosis and the association with survival and neurodevelopmental outcomes at 2 years of age.