Myopia in Children: Epidemiology, Genetics, and Emerging Therapies for Treatment and Prevention.

Refractive errors, particularly myopia, are among the most prevalent visual impairments globally, with rising incidence in children and adolescents. This review explores the epidemiology and risk factors associated with the development of refractive errors, focusing on the environmental and lifestyle factors contributing to the current surge in myopia. We provide an overview of key genetic factors and molecular pathways driving the pathogenesis of myopia and other refractive errors, emphasizing the complex interplay between genetic predisposition and environmental triggers.

Comparison of ELISA and IFAT for Leishmania infantum by European and Middle Eastern diagnostic laboratories.

Background: Visceral leishmaniosis (VL) is the most severe form of human leishmaniosis, with an estimated 95% case fatality if left untreated. Dogs act as peridomestic reservoir hosts for the protozoan parasite Leishmania infantum, a causative agent for human leishmaniosis, endemic throughout the Mediterranean basin. To assure consistent and accurate surveillance of canine infection and prevent transmission to people, consistent diagnosis of canine L.

High-resolution DNA methylation changes reveal biomarkers of heart failure with preserved ejection fraction versus reduced ejection fraction.

Novel biomarkers are needed to better identify-and distinguish-heart failure with preserved ejection fraction (HFpEF) from other clinical phenotypes. The goal of our study was to identify epigenetic-sensitive biomarkers useful to a more accurate diagnosis of HFpEF. We performed a network-oriented genome-wide DNA methylation study of circulating CD4 T lymphocytes isolated from peripheral blood using reduced representation bisulfite sequencing (RRBS) in two cohorts (i.

Large Language Model Ability to Translate CT and MRI Free-Text Radiology Reports Into Multiple Languages.

Background High-quality translations of radiology reports are essential for optimal patient care. Because of limited availability of human translators with medical expertise, large language models (LLMs) are a promising solution, but their ability to translate radiology reports remains largely unexplored. Purpose To evaluate the accuracy and quality of various LLMs in translating radiology reports across high-resource languages (English, Italian, French, German, and Chinese) and low-resource languages (Swedish, Turkish, Russian, Greek, and Thai).

Could chronic opioid use be an additional risk of hepatic damage in patients with previous liver diseases, and what is the role of microbiome?

Among illicit drugs, addiction from opioids and synthetic opioids is soaring in an unparalleled manner with its unacceptable amount of deaths. Apart from these extreme consequences, the liver toxicity is another important aspect that should be highlighted. Accordingly, the chronic use of these substances, of which fentanyl is the most frequently consumed, represents an additional risk of liver damage in patients with underlying chronic liver disease.

-related disorder in 87 adults: Natural history and self-sustainability.

Purpose: is one of the most frequently mutated genes in intellectual disability cohorts. Thus, far few adult-aged patients with -related disorder have been described, which limits our understanding of the disease's natural history and our ability to counsel patients and their families.

Methods: Data on patients aged 18+ years with -related disorder were collected through an online questionnaire completed by clinicians and parents.

Heterozygous variants disrupting the interaction of ERF with activated ERK1/2 cause microcephaly, developmental delay, and skeletal anomalies.

Heterozygous deleterious null alleles and specific missense variants in the DNA-binding domain of the ETS2 repressor factor (ERF) cause craniosynostosis, while the recurrent p.(Tyr89Cys) missense variant is associated with Chitayat syndrome. Exome and whole transcriptome sequencing revealed the ERF de novo in-frame indel c.

International consensus statement on microbiome testing in clinical practice.

There is growing interest in the potential exploitation of the gut microbiome as a diagnostic tool in medicine, but evidence supporting its clinical usefulness is scarce. An increasing number of commercial providers offer direct-to-consumer microbiome diagnostic tests without any consensus on their regulation or any proven value in clinical practice, which could result in considerable waste of individual and health-care resources and potential drawbacks in the clinical management of patients. We convened an international multidisciplinary expert panel to standardise best practices of microbiome testing for clinical implementation, including recommendations on general principles and minimum requirements for their provision, indications, pre-testing protocols, method of analyses, reporting of results, and potential clinical value.

Age- and sex-specific reference percentile curves for accelerometry-measured physical activity in healthy European children and adolescents.

Unlabelled: Physical activity measured by accelerometry (PA-accelerometry) is used as an indicator of physical capacity in chronic diseases. Currently, only fragmented age ranges of reference percentile curves are available for European children and adolescents. This study aimed to provide age- and sex-specific percentiles for physical activity measured by hip-worn accelerometry derived throughout the full age range of European children and adolescents.

Improved Clinical Outcomes During Long-term Osilodrostat Treatment of Cushing Disease With Normalization of Late-night Salivary Cortisol and Urinary Free Cortisol.

Purpose: To assess whether simultaneous normalization of late-night salivary cortisol (LNSC) and mean urinary free cortisol (mUFC) in patients with Cushing disease treated with osilodrostat is associated with better clinical outcomes than control of mUFC or LNSC alone.

Methods: Pooled data from two phase III osilodrostat studies (LINC 3 and LINC 4) were analyzed. Both comprised a 48-week core phase and an optional open-label extension.

Novel Approaches for the Early Detection of Glaucoma Using Artificial Intelligence.

Background: If left untreated, glaucoma-the second most common cause of blindness worldwide-causes irreversible visual loss due to a gradual neurodegeneration of the retinal ganglion cells. Conventional techniques for identifying glaucoma, like optical coherence tomography (OCT) and visual field exams, are frequently laborious and dependent on subjective interpretation. Through the fast and accurate analysis of massive amounts of imaging data, artificial intelligence (AI), in particular machine learning (ML) and deep learning (DL), has emerged as a promising method to improve the early detection and management of glaucoma.

Global change, climate change, and asthma in children: Direct and indirect effects - A WAO Pediatric Asthma Committee Report.

The twenty-first century has seen a fundamental shift in disease epidemiology with anthropogenic environmental change emerging as the likely dominant factor affecting the distribution and severity of current and future human disease. This is especially true of allergic diseases and asthma with their intimate relationship with the natural environment. Climate change-related variables including increased ambient temperature, heat waves, extreme weather events, air pollution, and rainfall distribution, all can affect asthma in children, but each of these variables also affects asthma via alterations in pollen production and release, outdoor allergen exposure or the microbiome.

Cerebrovascular damage caused by the gut microbe/host co-metabolite -cresol sulfate is prevented by blockade of the EGF receptor.

The gut microbiota-brain axis has been associated with the pathogenesis of numerous disorders, but the mechanism(s) underlying these links are generally poorly understood. Accumulating evidence indicates the involvement of gut microbe-derived metabolites. Circulating levels of the gut microbe/host co-metabolite -cresol sulfate (pCS) correlate with cerebrovascular event risk in individuals with chronic kidney disease (CKD), but whether this relationship is mechanistic is unclear.

Liposomal Doxorubicin, Vinblastine and Dacarbazine Plus Consolidation Radiotherapy of Residual Nodal Masses for Frontline Treatment in Older Adults With Advanced Stage Classic Hodgkin Lymphoma: Improved Outcome in a Multi-Center Real-Life Study.

In elderly patients with high-risk classic Hodgkin lymphoma (c-HL), we evaluated the impact of a new modality treatment without bleomycin, that is, liposomal doxorubicin (NPLD)-based regimen plus consolidation radiotherapy of residual nodal masses (RNMs), on overall survival (OS) and progression free survival (PFS). In this retrospective study (2013-2023) conducted in tertiary hospitals in the bay of Naples (Italy), 50 older adults (median age, 69 years; range, 60-89) with advanced stage c-HL received frontline treatment with MVD ± irradiation. MVD consisted of 25 mg/m of NPLD along with standard Vinblastine and Dacarbazine for a total of 6 cycles (twelve iv administrations, every 2 weeks) followed by radiation of RNMs with size ≥ 2.

The evaluation of myocarditis in patients with Still's disease; clinical findings from the multicentre international AIDA Network Still's Disease Registry.

Objective: To evaluate the cardiac involvement in patients with Still's disease with a focus on myocarditis included in the multicenter AIDA (AutoInflammatory Disease Alliance) network Still's disease registry. To exploit the predictive factors for myocarditis in deriving a clinical risk patient profile for this severe manifestation.

Methods: A multicenter observational study was built up assessing consecutive patients with Still's disease characterized by the cardiac involvement among those included in the AIDA Network Still's Disease Registry.

An integrated view of the structure and function of the human 4D nucleome.

The dynamic three-dimensional (3D) organization of the human genome (the "4D Nucleome") is closely linked to genome function. Here, we integrate a wide variety of genomic data generated by the 4D Nucleome Project to provide a detailed view of human 3D genome organization in widely used embryonic stem cells (H1-hESCs) and immortalized fibroblasts (HFFc6). We provide extensive benchmarking of 3D genome mapping assays and integrate these diverse datasets to annotate spatial genomic features across scales.

Antithrombotic Therapy in High Bleeding Risk, Part II: Noncardiac Percutaneous Interventions.

Over the past decades, there have been great advancements in the antithrombotic management of patients undergoing percutaneous interventions, but most of the available evidence derives from studies conducted in the setting of cardiac interventions. Antithrombotic treatment regimens used in patients undergoing percutaneous cardiac interventions, in particular coronary, are frequently extrapolated to patients undergoing noncardiac interventions. However, the differences in risk profile of the population treated and the types of interventions performed may translate into differences is the safety and efficacy associated with antithrombotic therapy.