Interpretation and classification of FBN1 variants associated with Marfan syndrome: consensus recommendations from the Clinical Genome Resource's FBN1 variant curation expert panel.

Background: In 2015, the American College of Medical Genetics and Genomics (ACMG) and the Association for Molecular Pathology (AMP) developed standardized variant curation guidelines for Mendelian disorders. Although these guidelines have been widely adopted, they are not gene- or disease-specific. To mitigate classification discrepancies, the Clinical Genome Resource FBN1 variant curation expert panel (VCEP) was established in 2018 to develop adaptations to the ACMG/AMP criteria for FBN1 in association with Marfan syndrome.

Assessment of the efficacy of palliative sedation in advanced cancer patients by evaluating discomfort levels: a prospective, international, multicenter observational study.

Background: Palliative sedation involves the intentional proportional lowering of the level of consciousness in patients with life-limiting disease who are experiencing refractory suffering. The efficacy of palliative sedation needs to be monitored to ensure patient comfort. The aim of this study was to evaluate the efficacy using discomfort levels combined with sedation/agitation levels.

Tackling the primary healthcare workforce crisis: time to talk about health systems and governance-a comparative assessment of nine countries in the WHO European region.

Background: Primary healthcare has emerged as a powerful global concept, but little attention has been directed towards the pivotal role of the healthcare workforce and the diverse institutional setting in which they work. This study aims to bridge the gap between the primary healthcare policy and the ongoing healthcare workforce crisis debate by introducing a health system and governance approach to identify capacities that may help respond effectively to the HCWF crisis in health system contexts.

Methods: A qualitative comparative methodology was employed, and a rapid assessment of the primary healthcare workforce was conducted across nine countries: Denmark, Germany, Kazakhstan, Netherlands, Portugal, Romania, Serbia, Switzerland, and the United Kingdom/ England.

A tunable multi-timescale Indium-Gallium-Zinc-Oxide thin-film transistor neuron towards hybrid solutions for spiking neuromorphic applications.

Spiking neural network algorithms require fine-tuned neuromorphic hardware to increase their effectiveness. Such hardware, mainly digital, is typically built on mature silicon nodes. Future artificial intelligence applications will demand the execution of tasks with increasing complexity and over timescales spanning several decades.

A computational deep learning investigation of animacy perception in the human brain.

The functional organization of the human object vision pathway distinguishes between animate and inanimate objects. To understand animacy perception, we explore the case of zoomorphic objects resembling animals. While the perception of these objects as animal-like seems obvious to humans, such "Animal bias" is a striking discrepancy between the human brain and deep neural networks (DNNs).

Anxiety and Depression Features in Laryngopharyngeal Reflux Disease: A Systematic Review.

Objective: To investigate the anxiety and depression features in laryngopharyngeal reflux disease (LPRD).

Methods: A laryngologist and librarian conducted a PubMed, Scopus, and Cochrane Library systematic review related to anxiety, depression, and mental health in LPRD through the Preferred Reporting Items for Systematic Reviews and Meta-Analyses statements.

Results: Of the 96 identified studies, 22 publications met the inclusion criteria, accounting for 2162 patients with suspected LPRD (n = 1607), gastroesophageal reflux disease (GERD; n = 423), both LPRD and GERD (n = 132), and 926 healthy/asymptomatic individuals.

Equity in healthcare financing: A review of evidence.

This review summarises empirical studies on the progressivity and redistributive effects of healthcare financing mechanisms. The evidence varies significantly across countries and financing sources. Tax-based systems exhibit high progressivity, as direct taxes contribute to a favourable redistribution toward low-income households, often offsetting the regressive nature of indirect taxes.

Analysis of the Belgian RTT workforce and estimation of workforce needs for the near future.

Introduction: Radiation Therapists (RTTs) are crucial in delivering Radiotherapy (RT) to cancer patients. The advancements in RT technology and the increasing cancer incidence have heightened the demand for RTTs, necessitating strategic workforce planning at the national level. This study aims to identify and estimate current and future RTT workforce in Belgium.

Fast STEM image simulation in low-energy transmission electron microscopy by the accurate Chen-van-Dyck multislice method.

The Chen-van-Dyck (CVD) formulation as a rigorous numerical solution to the Schrödinger equation has been demonstrated being the only accurate multislice method for calculating diffraction and imaging in low-energy transmission electron microscopy. The CVD formulation not only considers the forward scattering effects but also includes the backscattering effects. However, since its numerical computation has to be performed in real-space, the CVD method may suffer from divergence and inefficiency in computing time, especially when used for low-energy scanning transmission electron microscopy (STEM) image simulation.

Global spatiotemporal characterization factors for freshwater eutrophication under climate change scenarios.

Nutrient enrichment of water bodies can lead to eutrophication, which poses a global threat to freshwater ecosystems, affecting biodiversity and water quality. While human activities have accelerated eutrophication, climate change further complicates the dynamics of nutrient cycling and ecosystem responses. Here, we provide global, spatially explicit freshwater eutrophication characterization factors, at an annual resolution from 2021 up to 2099 based on eight different climate change scenarios.

Comparing methods for catching and crating broiler chicken flocks: A trade-off between animal welfare, ergonomics and economics.

Catching, carrying, and loading of broilers before transport to the slaughterhouse causes stress. In this study three catching methods (two manual (inverted, upright) and one mechanical) were compared using a cost-benefit analysis of animal welfare, ergonomics and economic analysis. Depopulation of approximately 5,000 broilers per catching method per flock (upright vs.

Professional-patient discrepancies in assessing lung cancer radiotherapy symptoms: An international multicentre study.

Background And Purpose: We investigate discrepancies in the assessment of treatment-related symptoms in lung cancer between healthcare professionals and patients, and factors contributing to these discrepancies.

Materials And Methods: Data from 515 participants in the REQUITE study were analysed. Five symptoms (cough, dyspnoea, bronchopulmonary haemorrhage, chest wall pain, dysphagia) were evaluated both before and after radiotherapy.

Synthesis, Characterization, and antiviral evaluation of New Chalcone-Based Imidazo[1,2-a]pyridine Derivatives: Insights from in vitro and in silico Anti-HIV studies.

Given the ease of synthetic accessibility and the promising biological profile demonstrated by both imidazo[1,2-a]pyridine and Chalcone derivatives, a series of Chalcone-based imidazo[1,2-a]pyridine derivatives were synthesized and characterized using H NMR, C NMR, Mass Spectrometry and FTIR techniques. Density functional theory (DFT) was employed to investigate the structural and electronic properties, providing insights into potential reactive sites. The synthesized compounds were evaluated in vitro for their antiviral properties against human immunodeficiency virus type-1 (HIV-1) and human immunodeficiency virus type-2 (HIV-2) in MT-4 cells.

Fenfluramine treatment for Dravet syndrome: Long term real-world analysis demonstrates safety and reduced health care burden.

Objective: Fenfluramine (FFA), stiripentol (STP), and cannabidiol (CBD) are approved add-on therapies for seizures in Dravet syndrome (DS). We report on the long-term safety and health care resource utilization (HCRU) of patients with DS treated with FFA under an expanded access program (EAP).

Methods: A cohort of 124 patients received FFA for a median of 2.

Behavioral Determinants of Older Adults' and Caregivers' Willingness to Deprescribe: A Systematic Review.

Background: Deprescribing is a strategy to optimize medication use and to prevent medication harm. Despite the fact that behavioral theories have been shown to be useful in explaining health behaviors, the literature on deprescribing relies almost exclusively on attitudes as an explanatory factor for deprescribing behavior. This study systematically reviews the literature that made explicit use of the constructs included in health behavior theories (HBTs) to explain older adults' and informal caregivers' deprescribing behavior and outcomes.

Optoelectronic Properties and Fluorescence Lifetime Imaging Application of Donor-Acceptor Dyads Derived From 2,6-DicarboxyBODIPY.

Donor-acceptor BODIPY dyads, functionalized at the 2 and 6 positions with benzyl ester (BDP-DE) or carboxylic acid (BDP-DA) groups, were synthesized and characterized for their optoelectronic properties. The introduction of carbonyl groups increased the reduction potential of the BODIPY core by 0.15-0.

Atypical Regional Accent in Autistic Children: A Perception Study.

Autistic children are frequently said to speak with accents that markedly differ from those of their linguistic communities. To date, these anecdotal reports have never been tested or explained. We ran two perception studies using short audio recordings of autistic and typically developing children from the Campania region in Italy.

Modulation of initial leftward bias in visual search by parietal tDCS.

Transcranial direct current stimulation (tDCS) has the potential to modulate spatial attention by enhancing the activity in one hemisphere relative to the other. This study aims to inform neurorehabilitation strategies for spatial attention disorders by investigating the impact of tDCS on the performance of healthy participants. Unlike prior research that focused on visual detection, we extended the investigation to visual search and visual imagery using computerized neuropsychological tests.

Alterations in gut-derived uremic toxins before the onset of azotemic chronic kidney disease in cats.

Background: Although gut-derived uremic toxins are increased in azotemic chronic kidney disease (CKD) in cats and implicated in disease progression, it remains unclear if augmented formation or retention of these toxins is associated with the development of renal azotemia.

Objectives: Assess the association between gut-derived toxins (ie, indoxyl-sulfate, p-cresyl-sulfate, and trimethylamine-N-oxide [TMAO]) and the onset of azotemic CKD in cats.

Animals: Forty-eight client-owned cats.

Spinal arachnoid diverticula in cats: Clinical presentation, diagnostic imaging findings, treatment, and outcome.

Background: Spinal arachnoid diverticulum (SAD) is considered a rare disease in cats. Previous reports mainly classified SAD in cats as acquired.

Hypothesis/objectives: The aim of this study was to describe the signalment, clinical presentation, diagnostic imaging findings, and outcome in a group of cats with SAD.

Evidence for bottom-up effects of moth abundance on forest birds in the north-boreal zone alone.

Insect declines are raising alarms regarding cascading effects on ecosystems, especially as many insectivorous bird populations are also declining. Here, we leveraged long-term monitoring datasets across Finland to investigate trophic dynamics between functional groups of moths and birds in forested habitats. We reveal a positive association between the biomass of adult- or egg-overwintering moths and the biomasses of resident and long-distance migrant birds reliant on caterpillars as breeding-season food in the north-boreal zone.

Real-World Evidence of the Prevalence of Driver Mutations in Anorectal Melanoma.

Introduction: Anorectal melanoma is a rare neoplasm with an aggressive behavior and poor prognosis. Recently, recurrent gene mutations related to anorectal melanoma have been identified in a small series of cases, and this holds promise for targeted therapies, analogous to cutaneous melanoma. The purpose of this study was to analyze testing rates and prevalence of mutations in anorectal melanoma in the Dutch population.

Neuropsychological profile of POLR3A-related spastic ataxia.

Background And Objectives: POLR3-related disorders are a group of autosomal recessive neurodegenerative diseases that usually cause leukodystrophy and can lead to cognitive dysfunction. Literature reporting comprehensive neuropsychological assessment in POLR3A-related diseases is sparse. Here we describe the neuropsychological profile of a case of childhood-onset POLR3A-related spastic ataxia without leukodystrophy.