Case Report: Pathogenic variants and nonsense-mediated mRNA decay result in an early-onset neutral lipid storage disease with myopathy.

Neutral Lipid Storage Disease with Myopathy (NLSDM) is a rare lipid metabolism disorder caused by impaired Adipose Triglyceride Lipase (ATGL) activity, leading to neutral lipid accumulation in various tissues. It typically manifests with progressive skeletal myopathy, with an onset of around 35 years. In addition, some patients develop cardiomyopathy and liver dysfunction.

Association between systemic exposure to antibiotics in early childhood and molar-incisor hypomineralization (MIH): A systematic review and meta-analysis.

Objective: Molar Incisor Hypomineralization (MIH) is a developmental enamel defect affecting one in six children worldwide. Although antibiotics have been suggested to influence dental development, their association with MIH remains unclear. This systematic review and meta-analysis evaluated the association between early childhood antibiotic exposure and the risk of developing MIH.

CoreTIA: a modular, statistically robust transduction inhibition assay for AAV neutralization.

Adeno-associated virus (AAV) gene therapy is often limited by pre-existing neutralizing antibodies (NAbs), yet current assays for NAb detection lack standardization and rarely quantify uncertainty, complicating cross-study comparisons. We present coreTIA (core Transduction Inhibition Assay), a comprehensive framework providing a modular experimental protocol and a statistically robust analysis pipeline. This integrated method delivers precise, reproducible NAb titers with quantified uncertainty for every result.

Ethical dimensions in nursing care for individuals with intellectual disabilities.

BackgroundIndividuals with intellectual and developmental disabilities (IDD) face significant health disparities, often exacerbated by ethical and legal complexities in nursing care. Nurses are frequently challenged to balance autonomy, informed consent, patient safety, and human rights, especially in settings with unclear guidelines or insufficient training. This narrative review explores the ethical and legal considerations in nursing care for individuals with IDD, aiming to highlight challenges and propose best practices.

Nonregistration, Discontinuation, and Nonpublication of Randomized Trials: A Systematic Review.

Importance: Previous work found that 25% to 30% of randomized clinical trials (RCTs) with protocols approved in 2012 or between 2000 and 2003 were discontinued prematurely, most commonly due to inadequate participant recruitment. To minimize research waste, RCTs should be registered and their results made available.

Objectives: To assess the fate of RCTs approved by ethics committees in 2016 in terms of nonregistration, discontinuation, and nonpublication, and to examine RCT characteristics associated with discontinuation due to poor recruitment and nonpublication of RCT results.

Effects of walking training with and without a robot and standard care on clinical and mobility outcomes: A randomized clinical trial in acute ischemic stroke patients.

Background: Stroke incidence rises with age. A stroke can severely affect walking ability, requiring therapy. Robot-assisted walking therapy (ROB) has been advocated as one form of walking rehabilitation in stroke patients.

Factors influencing the well-being of Central and Eastern European university teachers: the role of physical activity and the sources of stress and resources in the workplace.

Background: While previously a university education career seemed like a predictable, relatively stress-free, flexible, socially recognized profession, this today is no longer the case. Where it once was a job which protected its teachers from all sorts of workplace sources of stress like uncertainty, low work control, it now no longer offers such shielding.

Methods: In our study, based on the Jobs-Demands and Resources Theory, we examined the backgrounds and predictor roles of institutional stress sources and resources, and physical activity as an individual asset, in the wellbeing of teachers.

Tropomyosin isoforms encoded by TPM2 control the actin-bundling activity of fascin-1.

Background: In many types of tumors, the expression patterns of actin-binding proteins -fascin-1 and various isoforms of tropomyosin - are altered. Fascin-1 is an actin-bundling protein that promotes cancer cell motility, whereas tropomyosin functions as a tumor and metastasis suppressor. However, the mechanisms by which tropomyosin isoforms regulate fascin-1 remain poorly understood.

The value of contrast-enhanced ultrasound in the follow-up of Bosniak IIF cystic renal lesions.

Background: Contrast-enhanced ultrasound (CEUS) is increasingly used in the characterization of cystic renal lesions. Bosniak IIF lesions warrant follow-up, and their reported progression rate remains variable.

Methods: In this single-center retrospective study we assessed renal CEUS exams (SonoVue) with a diagnosis of Bosniak IIF lesion, conducted between 2015 and 2020.

Accuracy of Analog and Digital Full-Arch Mandibular Impressions: In Vitro and In Vivo Evaluation.

Accurate full-arch impressions are crucial for predictable prosthodontic outcomes. While intraoral scanners (IOSs) are increasingly adopted, evidence comparing their accuracy with conventional analog impressions across full mandibular arches-particularly under both laboratory and clinical conditions using an objective intraoral reference-is limited. Our study aims to evaluate the in vitro and in vivo accuracy of digital impressions compared to conventional methods in full-arch scans using an intraoral reference tool.

Principal Connection Between Typical Heart Rate Variability Parameters as Revealed by a Comparative Analysis of Their Heart Rate and Age Dependence.

Heart rate (HR) is strongly affected by the autonomic nervous system (ANS), while its spontaneous fluctuations, called heart rate variability (HRV), report about the dynamics of the complex, vegetative regulation of the heart rhythm. Hence, HRV is widely considered an important marker of the ANS effects on the cardiac system, and as such, a crucial diagnostic tool in cardiology. In order to obtain nontrivial results from HRV analysis, it would be desirable to establish exact, universal interrelations between the typical HRV parameters and HR itself.

Prevalence of Preterm Birth in a Marginalized Roma Population-Quantitative Analysis in One of the Most Disadvantaged Regions of Hungary.

Preterm birth is a leading cause of perinatal morbidity and mortality and is particularly prevalent among socially disadvantaged female populations. This quantitative, cross-sectional study aimed to explore the prevalence of preterm birth in three segregated Roma communities in Hungary and to identify health behavior and care factors associated with its occurrence. In our study, preterm birth was defined as delivery before 37 completed weeks of gestation (i.

Trends and Projections of the Prevalence of Diabetes Mellitus in Pregnancy and Fetal-Neonatal Metabolic Disorders, 2010-2035: A Nationwide Population-Based Study from Hungary.

: Diabetes in pregnancy represents a significant public health concern with established impacts on both maternal and fetal health outcomes. Our aim was to evaluate the epidemiology of diabetes mellitus in pregnancy (DMP) and specific fetal and neonatal transient metabolic disorders (FNTMDs) in Hungary between 2010 and 2024, as well as to project future trends through to 2035. : We carried out a quantitative, retrospective study using nationwide real-world data from the Hungarian 'Pulvita' Health Data Warehouse.

Differential Immune Checkpoint Expression in CD4 and CD4 NKT Cell Populations During Healthy Pregnancy.

This study investigated the expression of immune checkpoint molecules on CD4 and CD4 NKT cell subpopulations throughout healthy pregnancy trimesters and in non-pregnant condition to understand their role in maternal-fetal immunotolerance. Using flow cytometry, we found that CD4 NKT cells significantly outnumbered CD4 NKT cells in all investigated groups. In the case of the immune checkpoint molecules, PD-1 receptor expression was significantly lower in CD4 NKT cells compared to CD4 counterpart cells only in non-pregnant women, while the PD-L1 ligand expression on CD4 NKT cells significantly decreased in the third trimester.

The Sweet Side of IVF: Biological Role and Diagnostic Potential of Galectin-9 in Female Infertility.

Infertility rates are indeed increasing globally, which emphasizes a pressing need to identify novel biomarkers exhibiting superior potential for laboratory diagnosis and personalized clinical management. This study aimed to explore the biological role of Galectin-9 (Gal-9) in female fertility and evaluate its diagnostic potential in the In Vitro Fertilization (IVF) program. A prospective cohort study was performed on 83 follicular fluids (FF) and 19 serum-FF pairs from IVF patients, 16 serum samples from fertile women, and 12 tissue sections.

Phenanthrene Monomers and Dimers from with Antiproliferative Activity and Synergistic Effect with Doxorubicin Against Human Colon Cancer Cell Lines.

Continuing our search for bioactive compounds in species from the Juncaceae family, we investigated . The structures of five previously undescribed phenanthrenes-tenuins A-E (-)-and 14 known phenanthrenes (-), along with other components, were isolated and characterized using nuclear magnetic resonance and high-resolution mass spectrometry measurements. The antiproliferative activity of all of the isolated phenanthrenes was evaluated against the human colorectal adenocarcinoma cell lines COLO 205 (doxorubicin-sensitive) and COLO 320 (doxorubicin-resistant), as well as a non-tumorigenic human fibroblast cell line (CCD-19Lu), using the MTT viability assay.

Literacy or Useless Knowledge? Associations Between Health Literacy and Lifestyle Among Adolescents.

Health literacy plays a fundamental role in adolescents' health-related decisions and behaviors. The aim of our study was to assess the level of health literacy among 16-17-year-old students in Southern Hungary and to examine the associations between sociodemographic characteristics and health behaviors. This cross-sectional quantitative study was conducted in the autumn of 2024 in Baranya and Somogy counties.

Molecular Mechanisms Against Successful Weight Loss and Promising Treatment Options in Obesity.

: Obesity has become a major health issue, with multifactorial etiologies involving lifestyle, genetic, and neuroendocrine mechanisms. Despite public health campaigns and lifestyle interventions, long-term weight loss is often difficult to achieve or sustain. This literature review aims to summarize current knowledge on the main molecular mechanisms that hinder weight loss and to summarize the newest therapeutic strategies targeting obesity.

The Role of miRNAs and Extracellular Vesicles in Adaptation After Resistance Exercise: A Review.

Resistance exercise can enhance or preserve muscle mass and/or strength. Modifying factors are secreted following resistance exercise. Biomarkers like cytokines and extracellular vesicles, especially small extracellular vesicles, are released into the circulation and play an important role in cell-to-cell and inter-tissue communications.

Correction: Garmaa et al. A Systematic Review and Meta-Analysis of microRNA Profiling Studies in Chronic Kidney Diseases. 2024, , 30.

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Maternal and placental galectins: key players in the feto-maternal symbiotic tango.

Galectins, a family of β-galactoside-binding proteins, are critical in regulating feto-maternal interactions during pregnancy. Their evolutionary trajectory is reflected in their expression patterns and diverse functions in embryo implantation, trophoblast invasion, and maternal immune and vascular adaptation, contributing to healthy placentation and uncomplicated pregnancy. Galectin-1 (gal-1), one of the most ancient galectins, plays a pivotal role in feto-maternal immune regulation, acting predominantly from the maternal side to promote immune tolerance, a function integrated early in placental mammalian evolution.

Ultrafast photophysics of a positive reversibly switchable fluorescent protein.

Reversibly switchable fluorescent proteins (rsFPs) are essential tools in super-resolution imaging. The mechanism operating in the widely applied negative switching rsFPs has been studied in detail. Much less attention has been paid to the positive switching rsFP variants, which offer the potential benefit of emissive states that do not photoswitch during measurement.

The initiation of the second-step intradisciplinary tumor board discussion and its impact on treatment decision. Retrospective data analysis of 12 years' experience in a tertiary oncology center.

Background: Multidisciplinary team (MDT) meetings are generally accepted forums for the quality of cancer care, however, there is an ongoing discussion about the substantial role of MDTs in reaching optimal treatment decisions. In our tertiary oncology center, a second-step intradisciplinary seu oncotherapy tumor board (OTT) discussion system was introduced to increase the adherence of MDT's decision making with the knowledge of patients' preference and tolerance, and to partially relieve MDT's overwork in the purely adjuvant and the palliative treatment settings. Over the real-world tumor board data elaboration, the primary aim of this observational study was to present the impact of OTT meetings on treatment decisions.

Occupational Stress and Sleep Quality Among Hungarian Nurses in the Post-COVID Era: A Cross-Sectional Study.

The COVID-19 pandemic placed substantial mental and physical burdens on healthcare workers, particularly nurses. In the post-pandemic period, sustained stress, elevated mental workload and disturbed sleep may continue to affect well-being and job performance. This study aimed to assess perceived stress levels, occupational stress, and sleep quality among Hungarian nurses, while identifying key demographic, occupational, and behavioral predictors.