A machine learning model accurately identifies glycogen storage disease Ia patients based on plasma acylcarnitine profiles.

Background: Glycogen storage disease (GSD) Ia is an ultra-rare inherited disorder of carbohydrate metabolism. Patients often present in the first months of life with fasting hypoketotic hypoglycemia and hepatomegaly. The diagnosis of GSD Ia relies on a combination of different biomarkers, mostly routine clinical chemical markers and subsequent genetic confirmation.

Implementing a workplace participatory approach to support working caregivers in balancing their work, private life and informal care: results of a process evaluation.

Background: Many organizations are faced with growing numbers of employees who combine their jobs with informal caregiving responsibilities. To support working caregivers in maintaining a good balance between work, private life and informal care, a workplace participatory approach (PA) intervention was implemented in four Dutch organizations. This study's aims were to evaluate the degree of PA implementation, contextual factors influencing implementation, and stakeholder experiences with the PA.

The relationship between frailty syndrome and quality of life in patients with hypertension: a multidimensional analysis.

Background: Hypertension is a common condition among the elderly and is frequently accompanied by frailty syndrome (FS). The coexistence of hypertension and FS poses significant challenges in patient management and negatively impacts the quality of life (QoL). This study aimed to analyze the relationship between FS and QoL in elderly patients with suspected hypertension.

Multidisciplinary care pathways for falls prevention in older adults: visualizing the needs of primary care-based health care professionals.

Purpose: Multidisciplinary care pathways for falls prevention, which include falls risk stratification, multifactorial falls risk assessment, and management of multidomain interventions, can reduce falls in older adults. However, efficient multidisciplinary falls prevention care is challenging due to issues such as poor communication and role allocation. This study aimed to identify and visualize the multidisciplinary care needs of primary care-based health care professionals (HCPs) for falls prevention in the Netherlands using the novel co-design approach of journey mapping.

Real-time visualisation of fast nanoscale processes during liquid reagent mixing by liquid cell transmission electron microscopy.

Liquid cell transmission electron microscopy (LCTEM) is a powerful technique for investigating crystallisation dynamics with nanometre spatial resolution. However, probing phenomena occurring in liquids while mixing two precursor solutions has proven extremely challenging, requiring sophisticated liquid cell designs. Here, we demonstrate that introducing and withdrawing solvents in sequence makes it possible to maintain optimal imaging conditions while mixing liquids in a commercial liquid cell.

Re-encountering the phobic cue within days after a reconsolidation intervention is crucial to observe a lasting fear reduction in spider phobia.

Memory reconsolidation interventions offer an exciting alternative to exposure treatment because they may target fear memories directly, thereby preventing relapse. A previous reconsolidation intervention for spider fear abruptly reduced avoidance behaviour, whereas changes in self-reported fear followed later. In this pre-registered placebo-controlled study, we first aimed to conceptually replicate these effects in spider phobia.

Whole Genome Sequence Analysis of Terbinafine Resistant and Susceptible Trichophyton Isolates from Human and Animal Origin.

Trichophyton indotineae, first identified in India, has increasingly been reported in Asia, the Middle East, Europe, and recently in the USA. The global spread of terbinafine-resistant T. indotineae underscores the urgency of the issue.

Alkaline phosphatase decline and pain response as predictors of overall survival benefit in patients treated with radium-223: a post hoc analysis of the REASSURE study.

Background: Alkaline phosphatase (ALP) declines and pain responses can occur during radium-223 (Ra) treatment, but their association with treatment outcomes is unclear.

Methods: For patients with metastatic castration-resistant prostate cancer treated with Ra in the REASSURE study, we investigated whether ALP decline (Week 12) and/or pain response (during treatment) are associated with improved overall survival (OS). The Brief Pain Inventory-Short Form (BPI-SF) was used to assess pain at baseline and pain response (in patients with baseline BPI-SF score ≥2).

A collaborative network analysis for the interpretation of transcriptomics data in Huntington's disease.

Rare diseases may affect the quality of life of patients and be life-threatening. Therapeutic opportunities are often limited, in part because of the lack of understanding of the molecular mechanisms underlying these diseases. This can be ascribed to the low prevalence of rare diseases and therefore the lower sample sizes available for research.

The BAMBOO method for correcting batch effects in high throughput proximity extension assays for proteomic studies.

The proximity extension assay (PEA) enables large-scale proteomic investigations across numerous proteins and samples. However, discrepancies between measurements, known as batch-effects, potentially skew downstream statistical analyses and increase the risks of false discoveries. While implementing bridging controls (BCs) on each plate has been proposed to mitigate these effects, a clear method for utilizing this strategy remains elusive.

A Parametric study on the effects of winglet cant angle on wing aerodynamics and aeroacoustics.

The use of winglet devices is an efficient technique for enhancing aerodynamic performance. This study investigates the effects of winglet cant angles on both the aerodynamics and aeroacoustics of a commercial wing, comparing them to other significant parameters using a parametric analysis. A Full Factorial Design method is employed to generate a matrix of experiments, facilitating a detailed exploration of flow physics, with lift-to-drag ratio (L/D) and the integral of Acoustic Power Level (APL) as the primary representatives of aerodynamic and acoustic performance, respectively.

Powerful together with diabetes, a group-based self-management intervention for patients with type 2 diabetes from lower educational groups: study protocol for a hybrid type 2 evaluation.

Introduction: Type 2 diabetes mellitus (T2DM) is a major burden on public health worldwide. To reduce adverse events and complications, effective T2DM self-management is required. Self-management and glycaemic control are generally poorer in lower educated people compared with higher educated people.

Randomised double-blind placebo-controlled trial protocol to evaluate the therapeutic efficacy of lyophilised faecal microbiota capsules amended with next-generation beneficial bacteria in individuals with metabolic dysfunction-associated steatohepatitis.

Background: The spectrum of metabolic dysfunction-associated steatotic liver disease (MASLD) is highly prevalent, affecting 30% of the world's population, with a significant risk of hepatic and cardiometabolic complications. Different stages of MASLD are accompanied by distinct gut microbial profiles, and several microbial components have been implicated in MASLD pathophysiology. Indeed, earlier studies demonstrated that hepatic necroinflammation was reduced in individuals with MASLD after allogenic faecal microbiota transplantation (FMT) from healthy donors on a vegan diet.

The Long-Term Uptake of Home Spirometry in Regular Cystic Fibrosis Care: Retrospective Multicenter Observational Study.

Background: Home spirometers have been widely implemented in the treatment of people with cystic fibrosis (CF). Frequent spirometry measurements at home could lead to earlier detection of exacerbations. However, previous research indicates that the long-term use of home spirometry is not well maintained by people with CF.

Outcomes and Complications of Chait Trapdoor Cecostomy in Pediatric Patients with Therapy-Resistant Constipation and Fecal Incontinence: A 14-Year Retrospective Study.

Aim of the study To assess the incidence and types of complications and patient-reported outcomes in pediatric patients with therapy-resistant constipation or fecal incontinence (FI) without constipation who underwent Chait TrapdoorTM cecostomy (CTC). The findings contribute to the discussion on selecting the optimal antegrade continence (ACE) procedure for this population. Materials and Methods A retrospective review was conducted on all pediatric patients with therapy-resistant constipation or FI without constipation who underwent a CTC procedure at our tertiary referral center between 2009 and 2023.

Drivers of extended spectrum β-lactamase (ESBL)-producing Enterobacterales colonization among residents of long-term health care facilities: a European multicentric prospective cohort study.

Background: ESBL-producing Enterobacterales (ESBL-PE) are highly prevalent in long-term healthcare (LTCF) settings. In order to estimate the acquisition rate of ESBL-producing Escherichia coli and Klebsiella pneumoniae in LTCF settings and identify clinical and environmental risk factors, a multicentric, prospective cohort study was conducted in six LTCFs in Germany, France, Spain and the Netherlands.

Methods: Longitudinal screening of residents was performed over 32 weeks, collecting epidemiological and clinical data and environmental samples.

Neurobiological mechanisms of antidepressant properties of psilocybin: A systematic review of blood biomarkers.

Psilocybin represents a novel therapeutic approach for individuals with major depressive disorder (MDD) who do not respond to conventional antidepressant treatment. Investigating the influence of psilocybin on the pathophysiological processes involved in MDD could enhance our neurobiological understanding of the presumed antidepressant action mechanism. This systematic review aims to summarize the results of human studies investigating changes in blood-based biomarkers of MDD to guide future research on potentially relevant analytes that could be monitored in clinical trials.

Comparable performance between automatic and manual laryngeal and hypopharyngeal GTV delineations validated with pathology.

Purpose: Deep learning is a promising approach to increase reproducibility and time-efficiency of GTV delineation in head and neck cancer, but model evaluation primarily relies on manual GTV delineations as reference annotation, which are subjective and tend to overestimate tumor volume. This study aimed to validate a deep learning model for laryngeal and hypopharyngeal GTV segmentation with pathology and to compare its performance with clinicians' manual delineations.

Materials And Methods: A retrospective dataset of 193 laryngeal and hypopharyngeal cancer patients was used to train a deep learning model with clinical GTV delineations as reference.

Functional analysis of SRY variants in individuals with 46,XY Differences of Sex Development.

In mammals, male sexual development is initiated by the expression of the Sex-determining-Region-Y (SRY) gene. SRY contains a highly conserved High Mobility Group (HMG) box essential for DNA binding and activity. Variants in SRY cause Differences of Sex Development (DSD), accounting for 10-15% of 46,XY gonadal dysgenesis cases.

Microvessels-on-chip: Exploring endothelial cells and COVID-19 plasma interaction with nitric oxide metabolites.

COVID-19, caused by the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), primarily manifests as a flu-like illness with lung injury, often necessitating supplemental oxygen. Elderly individuals and those with pre-existing cardiovascular diseases are at increased risk of mortality. The endothelial barrier disruption observed in patients indicates systemic viral invasion and widespread endotheliitis.

Morphological and morphometric investigations on testate amoebae from Mongolia with descriptions of a new genus and four new species.

Testate amoebae are a polyphyletic and highly diverse group of unicellular protists, inhabiting various habitats and successfully used as indicators of property of environmental variables, providing information on hydrology, pH and pollution of ecosystems. However, despite numerous studies, there is still a lack of data regarding their species diversity, geographical distribution and population dynamics in various habitats from previously unexplored or poorly investigated regions such as Mongolia. In this study, we describe the morphology and morphometry of a new genus and four new species: Armatura murmillo gen.

Barriers and facilitators for adequate calcium intake during pregnancy: A mixed methods study.

Objective: This study evaluates the effectiveness of calcium supplementation as a preventive measure for pregnant women with insufficient calcium intake, examining adherence to the recommended 1000 mg daily intake and identifying influencing factors.

Methods: A survey (Expect cohort II, n = 823) evaluated calcium adherence among pregnant women, followed by interviews with sixteen purposefully selected participants. Verbatim transcripts were independently analyzed to identify key themes.