Crispant analysis in zebrafish as a tool for rapid functional screening of disease-causing genes for bone fragility.

Heritable fragile bone disorders (FBDs), ranging from multifactorial to rare monogenic conditions, are characterized by an elevated fracture risk. Validating causative genes and understanding their mechanisms remain challenging. We assessed a semi-high throughput zebrafish screening platform for rapid in vivo functional testing of candidate FBD genes.

Percutaneous treatment of de Quervain's disease using Sono-Instruments®: A feasibility study.

We investigated the safety and effectiveness of percutaneous release for de Quervain's disease using Sono-Instruments® in cadaveric specimens. The mean procedure duration was 4 minutes, and complete release was achieved in all specimens.

Detecting two circulating antigens - CCA and CAA - in urine and serum to improve diagnosis of human schistosomiasis.

Background: Schistosomiasis is caused by infection with parasitic worms and affects more than 250 million people globally. The detection of schistosome derived circulating cathodic and anodic antigens (CCA and CAA) has proven highly valuable for detecting active infections, causing both intestinal and urinary schistosomiasis.

Aim: The combined detection of CCA and CAA was explored to improve accuracy in detecting infections.

Echocardiography of the right heart in pulmonary arterial hypertension: insights from the ULTRA RIGHT VALUE study.

Aims: Outcome in pulmonary arterial hypertension (PAH) is determined by right ventricular (RV) function adaptation to increased afterload. Echocardiography is easily available to assist bedside evaluation of the RV. However, no agreement exists about the feasibility and most relevant measurements.

Deep cascaded registration and weakly-supervised segmentation of fetal brain MRI.

Deformable image registration is a cornerstone of many medical image analysis applications, particularly in the context of fetal brain magnetic resonance imaging (MRI), where precise registration is essential for studying the rapidly evolving fetal brain during pregnancy and potentially identifying neurodevelopmental abnormalities. While deep learning has become the leading approach for medical image registration, traditional convolutional neural networks (CNNs) often fall short in capturing fine image details due to their bias toward low spatial frequencies. To address this challenge, we introduce a deep learning registration framework comprising multiple cascaded convolutional networks.

Automated extraction of standardized antibiotic resistance and prescription data from laboratory information systems and electronic health records: a narrative review.

Antimicrobial resistance in bacteria has been associated with significant morbidity and mortality in hospitalized patients. In the era of big data and of the consequent frequent need for large study populations, manual collection of data for research studies on antimicrobial resistance and antibiotic use has become extremely time-consuming and sometimes impossible to be accomplished by overwhelmed healthcare personnel. In this review, we discuss relevant concepts pertaining to the automated extraction of antibiotic resistance and antibiotic prescription data from laboratory information systems and electronic health records to be used in clinical studies, starting from the currently available literature on the topic.

Brain aging rejuvenation factors in adults with genetic and sporadic neurodegenerative disease.

The largest risk factor for dementia is age. Heterochronic blood exchange studies have uncovered age-related blood factors that demonstrate 'pro-aging' or 'pro-youthful' effects on the mouse brain. The clinical relevance and combined effects of these factors for humans is unclear.

Japanese version of the Personal Outcomes Scale for persons with intellectual disability: Validity and reliability.

Background: The Personal Outcomes Scale is a measurement tool to examine quality of life among persons with intellectual disability. This paper addressed the validity and reliability of the Japanese version of the scale using both self-reports and reports of others.

Method: Data were collected from 128 people with intellectual disability (90 men and 38 women;  = 37.

Photochromic Sodalites: From Natural Minerals to Advanced Applied Materials.

ConspectusWhile photochromic natural sodalites, an aluminosilicate mineral, were originally considered as curiosities, articles published in the past ten years have radically changed this perspective. It has been proven that their artificial synthesis was easy and allowed compositional tuning. Combined with simulations, it has been shown that a wide range of photochromic properties were achievable for synthetic sodalites (color, activation energy, reversibility, etc.

Mind the gap in kidney care: translating what we know into what we do.

Historically, it takes an average of 17 years to move new treatments from clinical evidence to daily practice. Given the highly effective treatments now available to prevent or delay kidney disease onset and progression, this is far too long. The time is now to narrow the gap between what we know and what we do.

Contamination levels and distribution of persistent and non-persistent pollutants in paired hair, urine and serum samples from a Belgian non-occupationally exposed population.

Designing ideal human biomonitoring studies involves the selection of reliable markers of exposure in adequate biological matrix. Besides conventional matrices such as blood or urine, hair has been increasingly investigated as a promising noninvasive alternative. However, understanding the pollutant distribution between differing biological compartments is essential for reliable interpretation of data collected.

The Benefit of Evolution of Pesticide Tolerance Is Overruled under Combined Stressor Exposure due to Synergistic Stressor Interactions.

Despite pleas to consider both evolutionary and multistressor climate change perspectives to improve ecological risk assessment, the much needed combination of both perspectives is largely missing. This is especially important when evaluating the costs of the evolution of genetic tolerance to pollutants as these costs may become visible only under combined exposure to the pollutant and warming due to energetic constraints. We investigated the costs of chlorpyrifos tolerance in when sequentially exposed to 4-day pesticide treatments and 4-day heat spike treatments.

A roadmap toward promoting and improving brain health in Europe and closing the awareness and funding gap.

Background And Purpose: The global burden of neurological diseases exceeds 43.1%, imposing a significant burden on patients, caregivers and society. This paper presents a roadmap to reduce this burden and improve brain health (BH) in Europe.

[Out-of-hospital cardiac arrests : year 2023 review of the CHC - Bcar registry in Liege area (Belgium)].

Out-of-hospital cardiac arrests represent impactful events. Despite the evolution of care, they are still associated with high morbidity and mortality. We present the analysis of our activity included in the 2023 CHC - Bcar registry in Liege area (Belgium).

Could Better-Quality Employment Improve Population Health? Findings From a Scoping Review of Multi-Dimensional Employment Quality Research and a Proposed Research Direction.

Background: Precarious employment, a specific part of the conceptual spectrum of employment quality (EQ), has been established as an important risk to individual and population health and well-being when compared to a standard employment circumstance. There remains a need, however, to explore whether and how EQ might be used as a tool to not only protect but also advance population health and well-being.

Methods: The purposes of this scoping review were to assess the analytic treatment of the multiple dimensions of EQ and the stances researchers take to characterize the state of knowledge of EQ that supports the idea that better EQ is a health-promoting factor.

Clusters of Patient Empowerment and Mental Health Literacy Differentiate Professional Help-Seeking Attitudes in Online Mental Health Communities Users.

Objectives: Grounded in the Health Empowerment Model, which posits that health literacy and patient empowerment are intertwined yet distinct constructs, this study investigates how the interplay of these factors influences attitudes toward seeking professional psychological help in members of online communities for mental health (OCMHs). This while acknowledging the multidimensionality of patient empowerment, encompassing meaningfulness, competence, self-determination, and impact.

Design And Methods: A cluster analysis of data gathered from 269 members of Italian-speaking OCMHs on Facebook has been performed.

The expansion and loss of specific olfactory genes in relatives of parasitic lice, the stored-product psocids (Psocodea: Liposcelididae).

Background: Booklice, belonging to the genus Liposcelis (Psocodea: Liposcelididae), commonly known as psocids, infest a wide range of stored products and are implicated in the transmission of harmful microorganisms such as fungi and bacteria. The olfactory system is critical for insect feeding and reproduction. Elucidating the molecular mechanisms of the olfactory system in booklice is crucial for developing effective control strategies.

Prognostic impact of expression of CD2, CD25, and/or CD30 in/on mast cells in systemic mastocytosis: a registry study of the European Competence Network on Mastocytosis.

Expression of CD2, CD25 and/or CD30 in extracutaneous mast cells (MC) is a minor diagnostic criterion for systemic mastocytosis (SM) in the classification of the World Health Organization and International Consensus Classification. So far, it remains unknown whether expression of these antigens on MC is of prognostic significance in SM. We performed a retrospective multi-center study of patients with SM using the data set of the registry of the European Competence Network on Mastocytosis, including 5034 patients with various MC disorders.

Clinical practice recommendations for the diagnosis and management of X-linked hypophosphataemia.

X-linked hypophosphataemia (XLH) is a rare metabolic bone disorder caused by pathogenic variants in the PHEX gene, which is predominantly expressed in osteoblasts, osteocytes and odontoblasts. XLH is characterized by increased synthesis of the bone-derived phosphaturic hormone fibroblast growth factor 23 (FGF23), which results in renal phosphate wasting with consecutive hypophosphataemia, rickets, osteomalacia, disproportionate short stature, oral manifestations, pseudofractures, craniosynostosis, enthesopathies and osteoarthritis. Patients with XLH should be provided with multidisciplinary care organized by a metabolic bone expert.

Tuberous sclerosis complex-associated kidney disease in children.

Tuberous sclerosis complex (TSC) is an autosomal dominant disorder which can have manifestations in the kidneys, along with other organ systems. Children with TSC may develop kidney lesions at any point during childhood, and typically these are angiomyolipomata (AML) and/or kidney cysts. Children may also have hypertension associated with TSC-associated kidney disease, and rarely reduced kidney function.