Altered miRNA expression in duodenal tissue of celiac patients and the impact of a gluten-free diet: a preliminary study.

Background: MicroRNAs (miRNAs) are crucial regulators of gene expression, impacting a wide range of biological processes. Their dysregulation can result in pathological changes and contribute to the development of various disorders. This study aims to evaluate the expression of selected miRNAs in duodenal tissue of paediatric patients with active celiac disease (CD), investigate the role of dysregulated miRNAs in disease pathogenesis and assess the changes in their expression profile in response to a gluten-free diet (GFD).

Evaluation of the Effectiveness of Teduglutide Treatment in Patients with Short Bowel Syndrome in Slovakia-Multicenter Real-World Study.

(1) We present the first real-world-data study on teduglutide-treated SBS patients in the Slovak Republic and the first study to enable the comparison of the effects of teduglutide treatment between the adult and pediatric populations. (2) This was a non-interventional retrospective cohort study of adult and pediatric SBS patients treated with teduglutide. Primary and secondary endpoints were the results of teduglutide use at 12 weeks and 6 months after the initiation of treatment, compared to baseline.

Polysomnographic profile in children diagnosed with celiac disease before starting on a gluten free diet.

Study Aims: The study assessed the presence of sleep abnormalities in children who had recently been diagnosed with celiac disease (CD) and not started a gluten free diet (GFD). The children's polysomnographic profiles were also characterized and further compared with healthy children of the same age.

Methods: This prospective cross-sectional study involved 46 pediatric subjects (aged 1-19 years) who had recently been diagnosed with CD and not started a GFD.

Nephronophthisis type I, left ventricular non-compaction cardiomyopathy and reduced cilia motility-atypical manifestations of one disease.

Nephronophthisis, an autosomal recessive cystic kidney disease, represents genetically heterogenous group of diseases that lead to end-stage kidney disease in children and young adults. The typical clinical manifestations are polyuria, enuresis and growth failure. Left ventricular non-compaction cardiomyopathy is a rare form of cardiomyopathy, is determined by the disturbance of embryogenesis of the endocardium and myocardium.

Targeted Gene Panel Sequencing for Early-onset Inflammatory Bowel Disease and Chronic Diarrhea.

Background: In contrast to adult-onset inflammatory bowel disease (IBD), where many genetic loci have been shown to be involved in complex disease etiology, early-onset IBD (eoIBD) and associated syndromes can sometimes present as monogenic conditions. As a result, the clinical phenotype and ideal disease management in these patients often differ from those in adult-onset IBD. However, due to high costs and the complexity of data analysis, high-throughput screening for genetic causes has not yet become a standard part of the diagnostic work-up of eoIBD patients.

Two novel RFX6 variants in siblings with Mitchell-Riley syndrome with later diabetes onset and heterotopic gastric mucosa.

Mitchell-Riley syndrome, an autosomal recessive disorder caused by mutations in the RFX6 gene, is defined as a combination of neonatal diabetes mellitus and serious congenital gastrointestinal defects. We describe Mitchell-Riley syndrome in two sisters with two novel compound heterozygous variants in the RFX6 gene: c.1154G > A, p.

Beta-palmitate - a natural component of human milk in supplemental milk formulas.

The composition and function of human milk is unique and gives a basis for the development of modern artificial milk formulas that can provide an appropriate substitute for non-breastfed infants. Although human milk is not fully substitutable, modern milk formulas are attempting to mimic human milk and partially substitute its complex biological positive effects on infants. Besides the immunomodulatory factors from human milk, research has been focused on the composition and structure of human milk fat with a high content of β-palmitic acid (sn-2 palmitic acid, β-palmitate).

Factors influencing the levels of exhaled carbon monoxide in asthmatic children.

Objective: Bronchial asthma is characterised by chronic airway inflammation commonly associated with increased oxidative stress. Exhaled carbon monoxide (eCO) levels could act as markers of both oxidative stress and allergic inflammation. We aimed to study eCO levels in asthmatics and detect the possible factors influencing them.

X-linked agammaglobulinemia caused by new mutation in BTK gene: a case report.

Aim: Primary immunodeficiencies (PID) are becoming a recognized public health problem worldwide. The most important subgroup of these disorders are the antibody deficiencies. X-linked agammaglobulinaemia was the first described entity of this group and is characterised by early onset of recurrent bacterial infections, profound deficiency of all immunoglobulin isotypes and markedly reduced number of peripheral B-lymphocytes.

Clinical, functional and genetic analysis of twenty-four patients with chronic granulomatous disease - identification of eight novel mutations in CYBB and NCF2 genes.

Chronic granulomatous disease is an inherited disorder in which phagocytes lack a functional NADPH oxidase and cannot produce superoxide anions. The most common form is caused by mutations in CYBB encoding gp91phox. We investigated 24 CGD patients and their families.

Reproducibility of food atopy patch tests over time in the general child population.

Background: The atopy patch test (APT) is no longer an experimental method; it is increasingly being used as a standard diagnostic tool for the characterization of patients with aeroallergen- and food-triggered disorders. Some technical aspects of this test still remain to be answered. We aimed to study the reproducibility of this test over time in the general child population.