Genotype-Phenotype Correlations in Corneal Dystrophies: Advances in Molecular Genetics and Therapeutic Insights.

Corneal dystrophies are a group of predominantly rare inherited disorders. They are by definition bilateral, relatively symmetrical, and without systemic involvement, affecting corneal transparency and/or refraction. Traditional classification of corneal dystrophies is based on slit-lamp appearance, affected corneal layer and histological features.

Retinoid X receptor agonist 9CDHRA mitigates retinal ganglion cell apoptosis and neuroinflammation in a mouse model of glaucoma.

Glaucoma, a leading cause of irreversible blindness, is characterized by the progressive loss of retinal ganglion cells (RGCs) and optic nerve damage, often associated with elevated intraocular pressure (IOP). Retinoid X receptors (RXRs) are ligand-activated transcription factors crucial for neuroprotection, as they regulate gene expression to promote neuronal survival via several biochemical networks and reduce neuroinflammation. This study investigated the therapeutic potential of 9-cis-13,14-dihydroretinoic acid (9CDHRA), an endogenous retinoid RXR agonist, in mitigating RGC degeneration in a high-IOP-induced experimental model of glaucoma.

Zinc Ion Dyshomeostasis in Autism Spectrum Disorder.

Autism spectrum disorder (ASD) is a neurodevelopmental disorder with significant social, communicative, and behavioral challenges, and its prevalence is increasing globally at an alarming rate. Children with ASD often have nutritional imbalances, and multiple micronutrient deficiencies. Among these, zinc (Zn) deficiency is prominent and has gained extensive scientific interest over the past few years.

Design, synthesis and biological evaluation of pyrazolo[3,4-]pyridine derivatives as dual CDK2/PIM1 inhibitors with potent anti-cancer activity and selectivity.

The discovery of novel, selective inhibitors targeting CDK2 and PIM1 kinases, which regulate cell survival, proliferation, and treatment resistance, is crucial for advancing cancer therapy. This study reports the design, synthesis, and biological evaluation of three novel pyrazolo[3,4-]pyridine derivatives (), confirmed spectral analyses. These compounds were assessed for anti-cancer activity against breast, colon, liver, and cervical cancers using the MTT assay.

Understanding Personalized Dynamics in Eating Disorders: A Dynamic Time Warp Analysis.

Objective: To enhance our understanding of the processes of change and the interaction of symptoms, we applied a relatively novel method known as Dynamic Time Warp to data from low-threshold internet-based interventions directed at decreasing eating disorder (ED) symptoms and increasing help-seeking.

Method: Utilizing data from the Featback study, we examined how various factors such as ED psychopathology, binge eating, vomiting, laxative use, BMI, anxiety, depression, self-efficacy, social support, well-being, and health-related quality of life interplayed over a period of 14 months among 355 individuals at six different time points. Moreover, we explored which symptoms exerted a significant temporal relationship on others (with high out-strength) and which were most affected by other symptoms (with high in-strength).

The Shadow Pandemic Contextualised: Albania's Response to Domestic Violence During COVID-19.

Background: Domestic violence (DV) encompasses a pattern of psychological, physical, sexual, financial, and/or emotional abuse, manifesting through assault, threats, and intimidation. Economic and social stressors in conjunction with the COVID-19 pandemic escalated DV cases worldwide, including those in Albania. Socioeconomic vulnerabilities worsened the situation, with DV-related complaints to non-governmental organizations (NGOs) in Albania increasing by 60% between March and May 2020, compared to the same period in 2019.

A population-based cohort study of perinatal mental illness following traumatic brain injury.

Aims: To examine the risk of perinatal mental illness, including new diagnoses and recurrent use of mental healthcare, comparing women with and without traumatic brain injury (TBI), and to identify injury-related factors associated with these outcomes among women with TBI.

Methods: We conducted a population-based cohort study in Ontario, Canada, of all obstetrical deliveries to women in 2012-2021, excluding those with mental healthcare use in the year before conception. The cohort was stratified into women with no remote mental illness history (to identify new mental illness diagnoses between conception and 365 days postpartum) and those with a remote mental illness history (to identify recurrent illnesses).

Transforming Ableism in Physical Therapist Education One Student at a Time: A Case Report of a Student with Blindness.

Objective: The prevalence of students with disabilities in physical therapist education programs in the United States is <1%. This case report explored the experiences surrounding a specific, unique individual student with blindness or visual impairment (BVI) within the context of an entry-level physical therapist program. The purpose was not merely to describe 1 student's journey but to capture the complex dynamics and shifts in perceptions of students, faculty, staff, and clinicians.

Novel insights into human CRISP2: localization in reproductive tissues and sperm, and molecular characterization.

CRISP2 is enriched in the male reproductive system of mammals and plays roles in spermatogenesis, sperm motility, and fertilization. Although extensively investigated in rodents and boars, human CRISP2 (hCRISP2) remains poorly studied, particularly concerning its localization in testicular and epididymal tissues and its molecular features. In this study, we used immunofluorescence to determine the localization of hCRISP2 in testis, epididymis, and ejaculated sperm.

Digital Platform-Based Conceptual Framework for Food Environment Research in China.

China has dedicated significant efforts to preventing obesity, but the rising prevalence of overweight and obesity remains a pressing public health issue. Therefore, unique solutions are required to address this challenge in China. As a research priority, the food environment plays a pivotal role in addressing overweight and obesity.

'Too much, too little' - heat wave impact during pregnancy and the need for adaptation measures.

The balls are rolling for climate change, with increasing vulnerability to women and children related to climate extreme events. Recent evidence has shown that acute exposure to heat wave during pregnancy can be associated with adverse health outcomes in childhood, with the risk being significantly higher among socially disadvantaged population, despite their lack of contribution to global carbon dioxide emissions and the rising global ambient temperature. This unequal impact requires utmost attention to develop tools, establish interdisciplinary teams, and to implement evidence-based interventions for the betterment of women and children in climate-vulnerable populations.

Antibody responses in Burkinabe children against proteins associated with reduced risk of clinical malaria.

Individuals residing in malaria-endemic regions with high disease transmission can develop semi-immunity within five years of age. Although understanding the target of the IgGs in this age group helps discover novel blood-stage vaccine candidates and serological markers, it has not been well elucidated due to limited accessibility to plasmodial antigens and samples. This study presents the first comprehensive analysis of antibody levels in plasma obtained from Burkinabe children (n=80, aged 0 to 5 years) to 1307 proteins expressed by the eukaryotic wheat germ cell-free system.

Association between SARS-CoV-2 infection and anti-apolipoprotein A-1 antibody in children.

Background And Aims: Autoantibodies against apolipoprotein A-1 (AAA1) are elicited by SARS-CoV-2 infection and predict COVID-19 symptoms persistence at one year in adults, but whether this applies to children is unknown. We studied the association of SARS-CoV-2 exposure with AAA1 prevalence in children and the association of AAA1 seropositivity with symptom persistence.

Methods: Anti-SARS-CoV-2 and AAA1 serologies were examined in 1031 participants aged 6 months to 17 years old from the prospective SEROCOV-KIDS cohort and recruited between 12.

KAN-EEG: towards replacing backbone-MLP for an effective seizure detection system.

The landscape of artificial intelligence (AI) research is witnessing a transformative shift with the emergence of the Kolmogorov-Arnold network (KAN), presenting a novel architectural paradigm aimed to redefine the structural foundations of AI models, which are based on multilayer perceptron (MLP). Through rigorous experimentation and evaluation, we introduce the KAN-electroencephalogram (EEG) model, a tailored design for efficient seizure detection. Our proposed network is tested and successfully generalized on three different datasets, one from the USA, one from Europe, and one from Oceania, recorded with different front-end hardware.

Examining Predictors of Environmental Health Knowledge and Competences in a Sample of Catalan Paediatricians.

Background And Aims: Their close contact with the cokes paediatricians a key group of healthcare professionals for the dissemination of environmental health (EH) notions and the protection of children and families. However, international studies show that their knowledge and competences in EH matters are limited.

Methods: We recruited a sample of 293 paediatricians (80% women, mean age 47 years) working in Catalonia (Spain).

The Relationship Between School Culture and Students' Academic Well-Being Through the Mediating Role of the Satisfaction of the Basic Psychological Needs: A Correlational Study.

Background And Aims: Since adolescents spend the majority of their daily time at school, understanding the impact of school culture on their experiences seems to be crucial, as it shapes their educational environment and well-being. Therefore, the current study aimed to investigate the relationship between school culture and academic well-being (AWB) through the mediating role of the satisfaction of the basic psychological needs (SBPN) in students.

Methods: It was a correlational study.

Vulnerability of the entorhinal cortex II to neurodegeneration in Alzheimer's disease.

Alzheimer's disease is characterized by progressive memory loss and deterioration of cognitive functions. The presence of neurofibrillary tangles in the hippocampal areas (perforant pathway) correlates with cognitive impairment. Pathological processing of tau protein is characterized by post-translational changes such as hyperphosphorylation and truncation, which favour conformational changes within tau.

Impact of Climate Change-Induced Flooding Water Related Diseases and Malnutrition in Borno State, Nigeria: A Public Health Crisis.

Climate change-induced flooding has caused public health crises in Borno State, Nigeria, which influence the increase of waterborne diseases and malnutrition. Flooding disrupts water and sanitation systems, creating breeding grounds for waterborne diseases such as cholera, malaria, and diarrheal illnesses. The displacement of communities and destruction of agricultural infrastructure due to flooding further increase food insecurity, leading to malnutrition.

Belonging: a meta-theme analysis of women's community-making in group antenatal and postnatal care.

Health care systems are social institutions simulating microcosms of wider societies where unequal distribution of power and resources translate into inequities in health outcomes, experiences and access to services. Growing research on participatory women's groups positively highlights the influence of group-based care on health and wellbeing for women, their infants, families and wider communities across different countries. With similarities in ethos and philosophies, group care combines relational, group-based facilitation and clinical care, uniquely offering an opportunity to examine the intersections of health and social care.

Chernobyl nuclear catastrophe: lessons for sustainability and UNSDGs in health, energy, and environmental recovery.

This study provides a comprehensive review of the research surrounding the Chernobyl nuclear incident, focusing on its far-reaching impacts on human health, and environmental contamination. Based on the Scopus database, 258 relevant papers were identified using Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines. These papers were metal-analyzed and quantitatively analyzed using a similarity map generated through VOSViewer in order to visualize key themes and their interconnections.

A global survey about undiagnosed rare diseases: perspectives, challenges, and solutions.

Background: Undiagnosed rare diseases (URDs) are a complex and multifaceted challenge, especially in low-and medium-income countries. They affect individuals with unique clinical features and lack a clear diagnostic label. Although the Undiagnosed Diseases Network International (UDNI) definition of URDs is not universally accepted, it is widely recognized.

Case Report: Ictal hypersalivation: a stereoelectroencephalography exploration.

Epilepsy is a chronic neurological condition with various etiologies, and recurrent unprovoked seizures characterize it. Hypersalivation is a recognized symptom of insular-opercular epilepsies. A wide range of symptoms can occur during a seizure, including hypersalivation, autonomic responses, oropharyngeal sensations, visceral sensations, somatosensory disturbances, and emotional manifestations.

Patterns of Use of e-Cigarettes and Their Respiratory Effects: A Critical Umbrella Review.

E-cigarettes (ECs) are a well-established consumer product. To study their respiratory health effects, there is the issue of heterogenous patterns of use: concurrently with cigarette smoking (dual use), exclusive use after smoking cessation (exclusive use), or use initiated without any prior or current use of cigarettes (naïve use). Our primary goal was to synthesize the evidence on the respiratory effects of ECs use in adults, categorized by their pattern of use.

15-Year trends, predictors, and outcomes of heart failure hospitalization complicating first acute myocardial infarction in the modern percutaneous coronary intervention era.

Aims: Heart failure (HF) following acute myocardial infarction (AMI) is a global health concern, but data on risk factors associated with HF hospitalization post-AMI are limited.

Methods And Results: We analysed data from the Myocardial Ischaemia National Audit Project, including patients admitted with AMI from 1 January 2006 to 31 March 2019. Data linkage with Hospital Episode Statistics Admitted Patient Care and the Office for National Statistics facilitated a longitudinal analysis.