Mice with 16p11.2 Deletion and Duplication Show Alterations in Biological Processes Associated with White Matter.

Deletion and duplication in the human 16p11.2 chromosomal region are closely linked to neurodevelopmental disorders, specifically autism spectrum disorder. Data from neuroimaging studies suggest white matter microstructure aberrations across these conditions.

Unusual presentation of a giant recurrent inguinal hernia: a case report.

The recurrence rate of inguinal hernia is 1-10%, most often in the inguinal region, and seldom in different locations. A 72-year-old man with a large soft swelling in the right ventrolateral abdominal region without swelling in the scrotum, operated on right inguinal hernia at pediatric age. Clinical findings revealed a giant right ventrolateral hernia and abdominal CT showed weakness of the abdominal wall with a 25 cm long hernial sac with an apex under the right costal arch and a base at the deep inguinal opening, that was diagnosed as a recurrent inguinal hernia with unusual presentation.

The Effect of Textile Structure Reinforcement on Polymer Composite Material Mechanical Behavior.

Investigating the impact of textile structure reinforcement on the mechanical characteristics of polymer composites produced by the compression molding technique was the goal of this work. An epoxy resin system served as the matrix, and various woven (plain, twill, basket), nonwoven (mat), and unidirectional (UD) textile structures made from E-glass fibers were employed as reinforcement elements. Compression molding of pre-impregnated textile materials (prepregs) was used to create the composites.

Bound-State Beta Decay of ^{205}Tl^{81+} Ions and the LOREX Project.

Stable ^{205}Tl ions have the lowest known energy threshold for capturing electron neutrinos (ν_{e}) of E_{ν_{e}}≥50.6  keV. The Lorandite Experiment (LOREX), proposed in the 1980s, aims at obtaining the longtime averaged solar neutrino flux by utilizing natural deposits of Tl-bearing lorandite ores.

Model organisms for investigating the functional involvement of NRF2 in non-communicable diseases.

Non-communicable chronic diseases (NCDs) are most commonly characterized by age-related loss of homeostasis and/or by cumulative exposures to environmental factors, which lead to low-grade sustained generation of reactive oxygen species (ROS), chronic inflammation and metabolic imbalance. Nuclear factor erythroid 2-like 2 (NRF2) is a basic leucine-zipper transcription factor that regulates the cellular redox homeostasis. NRF2 controls the expression of more than 250 human genes that share in their regulatory regions a cis-acting enhancer termed the antioxidant response element (ARE).

Croup in Children and Risk Factors.

Croup is a common respiratory illness in children under 5 years, primarily caused by viral infections. Symptoms include inspiratory stridor, barking cough, and hoarseness due to inflamed vocal cords. Diagnosis is based on symptoms difficulty breathing, stridor, chest in-drawing voice changes and head nodding.

Attrition in Everyday Dental Clinical Practice.

Introduction: Attrition, its prevention and therapy is a complex problem, with a multifactorial etiology. The aim of this paper is to examine the treatment of attrition in everyday dental clinical practice with the help of soft inserts.

Material And Method: In this study, 30 patients were included, divided into two groups of 15 patients, the study and the control group.

Red cell specifications for blood group matching in patients with haemoglobinopathies: An updated systematic review and clinical practice guideline from the International Collaboration for Transfusion Medicine Guidelines.

Red blood cell (RBC) antigen matching beyond ABO and RhD is commonly recommended for patients with sickle cell disease (SCD) and thalassaemia. We present an updated systematic literature review to inform evidence-based guidelines on RBC matching. The Grading of Recommendations, Assessment, Development, and Evaluation (GRADE) tool was used to develop recommendations.

Adaptive Hyperactivity and Biomarker Exploration: Insights from Elders in the Blue Zone of Sardinia.

Adaptive hyperactivity characterized by increased activity levels and novelty-seeking traits without mood disorders is prevalent among older adults in Sardinia's "blue zone," an area with high longevity. This study aims to evaluate the adaptive nature of hyperactivity concerning quality of life, social rhythms, and mood symptoms in individuals from this region, particularly among elderly adults over 80. This observational cross-sectional study included adults and older adults over 80 from Sardinia's blue zone.

Unexpected intraoperative finding of a hyalinizing cholecystitis in a patient with gallbladder calculi.

Hyalinizing cholecystitis is a rare subtype of chronic cholecystitis in which the gallbladder tissue is replaced with hyaline sclerosis, more or less, and has a characteristic intraoperative appearance. Preoperative diagnosis is hard to establish. The entity is strongly associated with gallbladder carcinoma.

Whole exome sequencing in patients with childhood-onset systemic lupus erythematosus: Results from a Croatian national study.

The purpose of this study was to identify new and low-frequency gene variants using whole exome sequencing (WES) in patients with childhood-onset systemic lupus erythematosus (cSLE), that may be involved in the pathogenesis of SLE. We performed WES on selected 17 trios (in some cases including other informative family members) in which the proband presented with severe, atypical clinical features, resistance to conventional therapy, a family pattern of occurrence and/or syndromic characteristics. After performing WES and analysis of gene variants, 17 novel and/or low-frequency variants were identified in 7 patients.

Case report: First diagnosis of Fabry disease in North Macedonia in a patient presenting with kidney failure on hemodialysis.

Introduction: Fabry disease is a rare X-linked lysosomal storage disorder caused by α-galactosidase A (α-Gal A) deficiency. Reduced or absent enzyme activity causes progressive lysosomal accumulation of globotriaosylceramide (Lyso-Gb3) in various cells throughout the body to trigger inflammation and fibrosis.

Case Description: We present the first familial case of Fabry Disease in North Macedonia identified based on clinical manifestations and confirmed through enzyme, biomarker, and genetic tests.

A Novel Pathogenic Variant in a Croatian Infant Is Linked to a Severe Tubulinopathy with Walker-Warburg-like Features.

Tubulinopathies are associated with malformations of cortical development but not Walker-Warburg Syndrome. Intensive monitoring of a Croatian infant presenting as Walker-Warburg Syndrome in utero began at 21 weeks due to increased growth of cerebral ventricles and foetal biparietal diameter. Monitoring continued until Caesarean delivery at 34 weeks where the infant was eutrophic.

The use of predictive modelling to determine the likelihood of donor return during the COVID-19 pandemic.

Artificial intelligence (AI) uses sophisticated algorithms to "learn" from large volumes of data. This could be used to optimise recruitment of blood donors through predictive modelling of future blood supply, based on previous donation and transfusion demand. We sought to assess utilisation of predictive modelling and AI blood establishments (BE) and conducted predictive modelling to illustrate its use.

Genuine anodic and cathodic current components in cyclic voltammetry.

Implicit anodic and cathodic current components associated with the real net current at a given potential of a simple quasireversible electrode reaction can be accurately estimated using basic mathematical modeling within the framework of Butler-Volmer electrode kinetics. This methodology requires only prior knowledge of the formal potential of the dissolved redox couple, offering direct insight into the electrode kinetics. The proposed approach facilitates a unique transformation of a conventional cyclic voltammogram, allowing the replacement of the common, net current with authentic anodic and cathodic current components.

Venous thromboembolism in women with hormone-dependent breast cancer. To continue or discontinue hormonal treatment? Insights from the RIETE registry.

Introduction: Hormone therapy (HT) for breast cancer is associated with an increased risk of venous thromboembolism (VTE). This study examines the effects of continuing versus discontinuing HT on VTE recurrence, major bleeding, and mortality, after an acute VTE event.

Methods: Using data in the RIETE-registry from March 2001 through September 2021, we calculated incidence rates and rate-ratios (RR) for VTE events in patients on- and off HT.

Aspirin Resistance and Ischemic Stroke.

: Acetylsalicylic acid (ASA) is the most widely used antiplatelet agent in treating ischemic strokes. ASA resistance varies between the populations, from 5% to 60%. We aimed to determine the prevalence of ASA resistance in our population, its association with demographic characteristics, risk factors, and the occurrence of recurrent ischemic stroke (IS).

Contrasting Performance of Two Winter Wheat Varieties Susceptible to Leaf Rust under Diverse Pathogen Pressure, Fungicide Application, and Cultivation Practices.

This study investigated the relationship between yield, thousand kernel weight (TKW), and crude protein of soft white winter wheat-club variety (Barbee) and soft white winter wheat common variety (Zvezdana) susceptible to leaf rust and powdery mildew under different cultivation practices. Results revealed divergence in associations between yield, TKW, and crude protein loss of winter wheat varieties susceptible to obligate pathogens. Under the same level of leaf rust infection, N-input limited yield loss of the two varieties but not to the same extent.

Thallium in Technosols from Allchar (North Macedonia): Isotopic and speciation insights.

Allchar (North Macedonia) mining area is known for anomalous background Tl concentrations. In this study, we combine accurate detection of Tl stable isotope ratios with data on mineralogy/speciation and chemical extraction of Tl in Tl-contaminated Technosol profiles. We demonstrate that Tl in the studied soils varies significantly in both concentration (500 mg/kg-18 g/kg) and isotopic composition (-1.