Personalised genomic strategies improve diagnostic yield in inherited retinal dystrophies: a stepwise, patient-centred approach.

Background: Inherited retinal dystrophies (IRDs) are a genetically heterogeneous group of conditions, with approximately 40% of cases remaining unresolved after initial genetic testing. This study aimed to assess the impact of a personalised genomic approach integrating whole-exome sequencing (WES) reanalysis, whole-genome sequencing (WGS), customised gene panels and functional assays to improve diagnostic yield in unresolved cases.

Subjects/methods: We retrospectively reviewed a cohort of 597 individuals with IRDs, including 525 probands and 72 affected relatives.

Transcriptomics and eQTLs reveal inflammatory heterogeneity in the duodenal lining in coeliac disease.

In coeliac disease (CeD), the epithelial lining (EL) of the small intestine is severely damaged by a complex auto-inflammatory response, leading intraepithelial lymphocytes to attack epithelial cells. To understand the intestinal changes and genetic regulation in CeD, we investigated the heterogeneity in the transcriptomic profile of the duodenal EL using RNA-seq and eQTL analysis on predicted cell types. The study included duodenal biopsies from 82 patients, grouped into controls, gluten-free diet treated CeD and untreated CeD.

"For ladies, 35 is check-out time": An anocritical approach to the sitcom Girls5eva.

This article offers an anocritical reading of Girls5eva, a sitcom about a 1990s one-hit girl group trying to make a comeback. Building on scholarship into the representation of aging women in popular media and the music industry, our reading first addresses fuzzy boundaries between life stages and transgressions of the normalized life course. Second, we examine the discourse of girl power and its relationship to midlife transformation.

Phasic alertness impairs cognitive control by amplifying competition between evidence accumulators.

Although phasic alertness generally benefits cognitive performance, it often increases the impact of distracting information, resulting in impaired decision-making and cognitive control. However, it is unclear why phasic alertness has these negative effects. Here, we present a novel, biologically-informed account, according to which phasic alertness generates a transient, evidence-independent input to the decision process.

Spiritual Support for People Affected by Dementia: A Scoping Review.

As a life-limiting illness, dementia requires a holistic approach to care, where spiritual support plays a crucial role in helping individuals and their caregivers find meaning and solace. Our aim was to systematically map the research conducted on psychosocial interventions developed to provide spiritual support for people living with dementia and their caregivers from diagnosis and across the disease trajectory. A scoping review was conducted to explore the breadth of research on 'spiritual support' in dementia care, encompassing interventions, service delivery models, programs, toolkits, approaches, and activities.

Smoking at football clubs: the Netherlands compared to Germany.

Ideally, in a smoke-free generation, children could practice sports in a smoke-free setting. This article studied the prevalence of smoking at football clubs in two countries. An audit at 45 German and 116 Dutch clubs measured smoking prevalence at three places.

Multilayer thin-film produces recurrent evolution of iridescence in mammals.

Iridescent coloration is a vibrant structural colour that is widespread in nature, but in mammals is thought to be limited. Although multiple rodent and Eulipotyphlan species have been anecdotally described as iridescent, empirical evidence outside of the Chrysochloridae (golden mole) family is lacking. As iridescence in golden moles is created through a thin-film mechanism from a compressed cuticle structure, and the structure of hair is highly conserved, we expect iridescence to be present, and produced by the same mechanism, in mammals that share similar hair properties.

Seasonal variation in SARS-CoV-2 transmission in The Netherlands, 2020-2022: statistical evidence for an inverse association with solar radiation and temperature.

In temperate regions, respiratory viruses such as SARS-CoV-2 are better transmitted in winter than in summer. Understanding how the weather is associated with SARS-CoV-2 transmissibility can enhance projections of COVID-19 incidence and improve estimation of the effectiveness of control measures. During the pandemic, transmissibility was tracked by the reproduction number .

Artificial Intelligence in allergy and immunology: recent developments, implementation challenges, and the road towards clinical impact.

Artificial intelligence (AI) is increasingly recognized for its capacity to transform medicine. While publications applying AI in allergy and immunology have increased, clinical implementation substantially lags behind other specialties. By mid-2024, over 1,000 FDA-approved AI-enabled medical devices existed, but none specifically addressed allergy and immunology.

Infliximab and ustekinumab clearance better predict endoscopic outcomes than trough concentrations in Crohn's disease.

Background And Aims: Infliximab and ustekinumab clearance have been suggested as predictors of disease activity in patients with inflammatory bowel diseases. We aimed to investigate the benefits of clearance monitoring for predicting endoscopic outcomes in patients with Crohn's disease (CD).

Methods: Data from patients with moderate-to-severe CD starting infliximab (n=108) and ustekinumab (n=80) therapy were repurposed.

Systematic Review of Experimental Studies in Humans on Transcranial Temporal Interference Stimulation.

Transcranial temporal interference stimulation (tTIS) has recently emerged as a non-invasive neuromodulation method aimed at reaching deeper brain regions than conventional techniques. However, many questions about its effects remain, requiring further experimental studies. This review consolidates the experimental literature on tTIS's effects in the human brain, clarifies existing evidence, identifies knowledge gaps, and proposes future research directions to evaluate its potential.

A clinical and genotype-phenotype analysis of MACF1 variants.

Microtubule-actin cross-linking factor 1 (MACF1) is a large protein of the spectraplakin family, which is essential for brain development. MACF1 interacts with microtubules through the growth arrest-specific 2 (Gas2)-related (GAR) domain. Heterozygous MACF1 missense variants affecting the zinc-binding residues in this domain result in a distinctive cortical and brain stem malformation.

Novel bacterial strategy to hijack plant immunity through metabolic manipulation.

In this issue of Developmental Cell, Yuan et al. explores how the pathogenic bacterium Pseudomonas syringae modulates plant metabolism, particularly through methylglyoxal (MG) accumulation, to suppress immune responses in Arabidopsis. By affecting key proteins TTM2 and CAT2, the pathogen reduces hydrogen peroxide levels, weakening plant defense mechanisms and promoting infection.

Effectiveness of multisensory stimulation and priming (MuSSAP) upper limb training in 3-8 months old infants with unilateral brain lesion - a retrospective clinical cohort study.

Introduction: Multi Sensory Stimulation And Priming (MuSSAP) is an early upper limb training for infants at high risk of unilateral cerebral palsy (CP). MuSSAP is designed to enhance awareness of the affected upper limb facilitating initiation of goal-directed movements. This study assesses the effectiveness of an 8-week MuSSAP training on manual ability in a clinical setting.

Over twenty-five years of ketogenic diet therapy: Supporting children and adults with drug-resistant epilepsy using nutritionally complete ketogenic formulations: A scoping review.

Purpose: Ketogenic diet therapy (KDT) has been successfully used as an effective management option for drug resistant epilepsy (DRE) since the 1920 s. The ketogenic formulation studied here (KetoCal) is nutritionally complete, very high in fat, and low in carbohydrates and has played a crucial role in supporting the implementation of KDT for over twenty-five years. This scoping review aims to synthesise the existing literature regarding the safety, acceptability, and efficacy of the ketogenic formulation in supporting the management of DRE.

Impact of a nurse-led and a web-based psychoeducational program for advanced cancer patients and their caregivers: Results of a three-arm randomized controlled trial.

Background: Advanced cancer impacts the lives of both patients and their family caregivers. They often experience substantial declines in quality of life and physical, emotional, and spiritual distress that generate significant unmet psychosocial care needs. These effects are interrelated.

Progression-free survival as a surrogate of overall survival in metastatic or recurrent endometrial cancer: an EORTC gynecologic cancer group study.

Objective: The value of progression-free survival as a surrogate marker for overall survival remains a matter of debate. Herein, we evaluated the validity of progression-free survival as a surrogate endpoint for overall survival in trials of recurrent or metastatic endometrial cancer.

Methods: A systematic review and meta-analysis were conducted following Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines.

The association between the MIND-NL diet, Dutch dietary guidelines, and global cognitive function in an older population at risk for cognitive decline.

Objectives: This study examined the association between adherence to the Dutch MIND diet (Mediterranean-DASH Intervention for Neurodegenerative Delay, MIND-NL) and the Dutch dietary guidelines (DHD2015-index) with global cognitive function in older adults at risk of cognitive decline.

Design And Setting: A cross-sectional study was conducted using baseline data of the FINGER-NL trial.

Participants: A total of 1,135 older adults, aged 60-80 years, at risk for cognitive decline with complete dietary data and complete neuropsychological tests were included in the analyses.