Neuroblastoma Occurring in Nijmegen Breakage Syndrome.

Nijmegen breakage syndrome (NBS) is a rare primary immunodeficiency disease due to a pathogenic variant in the NBN gene causing impaired DNA repair and increased predisposition for lymphoid malignancy. By contrast, solid tumors have been rarely reported. Neuroblastoma (NB) is a rare childhood solid tumor, associated with the worse outcome if MYCN oncogene is amplified.

Persistent Antigen A after Minor ABO-Incompatible Hematopoietic Stem Cell Transplantation in Children: Two Case Reports.

Introduction: ABO blood type changes after ABO-incompatible hematopoietic stem cell transplantation (HSCT). Most non-hematopoietic tissues retain the expression of the patient's own ABO antigens, which may adsorb from the plasma onto the donor's red blood cells (RBCs). Because of this phenomenon, a persistent patient's A and/or B antigen could be detected in the laboratory, despite 100% white cell donor chimerism.

Predictive factors for engraftment kinetics of autologous hematopoietic stem cells in children.

Background: Engraftment after hematopoietic stem cell transplantation is the recovery rate of neutrophils and platelets. This study aimed to test the impact of the patient's general characteristics, pre-transplantation factors, and quality parameters of hematopietic stem cell products on hematopietic recovery and to define predictive factors for engraftment in children.

Methods: This retrospective study included 52 patients aged from 1 to 18 years old treated with autologous transplantation at the Mother and Child Health Care Institute of Serbia "Dr.

Noonan Syndrome: Relation of Genotype to Cardiovascular Phenotype-A Multi-Center Retrospective Study.

Noonan syndrome (NS) is a congenital genetic disorder with a prevalence of 1 in 1000 to 2500 live births, and is characterized by distinctive facial features, short stature, chest deformities, and congenital heart disease. This study aims to evaluate the prevalence of specific genetic mutations and their impact on cardiovascular and other outcomes in NS. We conducted a retrospective clinical study of 25 pediatric patients diagnosed with NS at two institutions: The Mother and Child Health Care Institute of Serbia and the Clinic for Children Diseases, University Clinical Center of the Republic of Srpska.

AdeABC, AdeFGH, and AdeIJK efflux pumps as key factors in tigecycline resistance of Acinetobacter baumannii: a study from Western Balkan hospitals.

Purpose: The present study investigated the role of resistance-nodulation-cell division (RND) efflux pumps in tigecycline resistance of Acinetobacter baumannii clinical isolates recovered from three Western Balkan countries (Serbia, Bosnia and Herzegovina and Montenegro).

Methods: A total of 37 A. baumannii isolates recovered from seven tertiary care hospitals in 2016 and 2022 were tested against tigecycline using broth microdilution method.

Clinical and Hemodynamic Outcomes with Enalapril Orodispersible Minitablets in Young Children with Heart Failure Due to Congenital Heart Disease.

: The angiotensin-converting enzyme inhibitor (ACEI) enalapril is often administered to infants and young children with heart failure (HF) in various dosing regimens and formulations not adapted for their age. : This prospective, two-center, open-label 8-week study evaluated an age-appropriate formulation of orodispersible minitablets (ODMTs) of enalapril (0.25 mg and 1 mg) in children aged 0 to 6 years with HF due to congenital heart disease.

The Efficacy of Paraprobiotic Lozenges ( MIMLh5) for the Prevention of Acute and Chronic Nose and Throat Infections in Children.

Tonsillitis is common in children and is predominantly caused by viruses and, less frequently, by bacteria such as group A beta-hemolytic streptococcus. The treatment primarily involves supportive care; however, the overuse of antibiotics remains a concern due to rising antibiotic resistance. Probiotics, particularly Lactobacillus strains, have been shown to modulate immune responses, offering a potential alternative treatment.

B7 homolog 3 in pancreatic cancer.

Despite advances in cancer treatment, pancreatic cancer (PC) remains a disease with high mortality rates and poor survival outcomes. The B7 homolog 3 (B7-H3) checkpoint molecule is overexpressed among many malignant tumors, including PC, with low or absent expression in healthy tissues. By modulating various immunological and nonimmunological molecular mechanisms, B7-H3 may influence the progression of PC.

Managing Children and Adolescents with Type 1 Diabetes and Coexisting Celiac Disease: Real-World Data from a Global Survey.

Introduction: Celiac disease (CD) is among the diseases most commonly associated with type 1 diabetes (T1D). This study aimed to evaluate the worldwide practices and attitudes of physicians involved in pediatric diabetes care regarding diagnosing and managing CD in children with T1D.

Methods: The 30-item survey was conducted between July and December 2023 aimed at targeting pediatricians with special interest in T1D and CD.

Main features and disease outcome of congenital myotonic dystrophy - experience from a single tertiary center.

Congenital myotonic dystrophy type 1 (CDM1) is a rare neuromuscular disease. The aim of our study was to evaluate clinical variability of CDM1 and factors that may influence survival in CDM1. Research included 24 pediatric patients with CDM1.

Novel telomerase reverse transcriptase gene mutation in a family with aplastic anaemia.

Telomerase Reverse Transcriptase (TERT) encodes the telomerase reverse transcriptase enzyme and is the most frequently mutated gene in patients with telomeropathies. Heterozygous variants impair telomerase activity by haploinsufficiency and pathogenic variants are associated with bone marrow failure syndrome and predisposition to acute myeloid leukaemia. Owing to their rarity, telomeropathies are often unrecognised and misdiagnosed.

The Impact of Chronic Magnesium Deficiency on Excitable Tissues-Translational Aspects.

Neuromuscular excitability is a vital body function, and Mg is an essential regulatory cation for the function of excitable membranes. Loss of Mg homeostasis disturbs fluxes of other cations across cell membranes, leading to pathophysiological electrogenesis, which can eventually cause vital threat to the patient. Chronic subclinical Mg deficiency is an increasingly prevalent condition in the general population.

Splenic hamartomas in children.

Splenic hamartomas (SHs) are uncommon, benign vascular lesions of unclear etiology and are mostly found incidentally on abdominal images, at surgery, or at autopsy. Since the first case description, in 1861, less than 50 pediatric SH cases have been reported in the literature. In this article, we have performed an analysis of all SH cases in children published in the literature to date and presented our case of an 8-year-old male with SH.

TREATMENT OF CONGENITAL LARYNGEAL CYSTS IN NEWBORNS.

Congenital laryngeal cysts are rare lesions that may occur in newborns, characterized by symptoms of respiratory obstruction and severe dyspnea. The aim of this study was to indicate optimal surgical treatment of congenital laryngeal cysts in newborns. We present a case series of five neonates treated for congenital laryngeal cysts during the 2011-2017 period at our pediatric tertiary care hospital.

Expanding the Phenotypic Spectrum: Chronic Kidney Disease in a Patient with Combined Oxidative Phosphorylation Defect 21.

Introduction: Pathogenic variants in are associated with combined oxidative phosphorylation deficiency 21 (COXPD21), an autosomal recessive disorder usually presenting as mitochondrial encephalomyopathy. Kidney impairment has been documented in a minority of COXPD21 patients, mostly with distal renal tubular acidosis.

Case Report: We report on the first COXPD21 patient with generalized tubular dysfunction and early childhood progression to chronic kidney disease (CKD).

Self-care activities in pediatric patients with type 1 diabetes mellitus.

Introduction: Effective diabetes self-management and collaborative responsibility sharing with parents are imperative for pediatric patients with type 1 diabetes mellitus, particularly as they gradually assume more self-care responsibilities. The primary goal of this study was to assess differences in adherence to self-care activities regarding sociodemographics and clinical characteristics in pediatric patients with type 1 diabetes. The secondary goal of this study was to understand the level of parental involvement in diabetes management and to assess the pediatric patients' behaviors (independent or dependent on disease self-management) that relate to sociodemographic and clinical characteristics.

A novel thermostable YtnP lactonase from Stenotrophomonas maltophilia inhibits Pseudomonas aeruginosa virulence in vitro and in vivo.

Infections caused by multidrug-resistant pathogens are one of the biggest challenges facing the healthcare system today. Quorum quenching (QQ) enzymes have the potential to be used as innovative enzyme-based antivirulence therapeutics to combat infections caused by multidrug-resistant pathogens. The main objective of this research was to describe the novel YtnP lactonase derived from the clinical isolate Stenotrophomonas maltophilia and to investigate its antivirulence potential against multidrug-resistant Pseudomonas aeruginosa MMA83.

Is there a dominant-negative effect in individuals with heterozygous disease-causing variants in COL4A3/COL4A4?

Alport syndrome (AS) shows a broad phenotypic spectrum ranging from isolated microscopic hematuria (MH) to end-stage kidney disease (ESKD). Monoallelic disease-causing variants in COL4A3/COL4A4 have been associated with autosomal dominant AS (ADAS) and biallelic variants with autosomal recessive AS (ARAS). The aim of this study was to analyze clinical and genetic data regarding a possible genotype-phenotype correlation in individuals with disease-causing variants in COL4A3/COL4A4.

Age-specific causes of upper gastrointestinal bleeding in children.

The etiology of upper gastrointestinal bleeding (UGIB) varies by age, from newborns to adolescents, with some of the causes overlapping between age groups. While particular causes such as vitamin K deficiency and cow's milk protein allergy are limited to specific age groups, occurring only in neonates and infants, others such as erosive esophagitis and gastritis may be identified at all ages. Furthermore, the incidence of UGIB is variable throughout the world and in different hospital settings.

Gunshot Abdominal Injuries: A Report of Two Cases and a Review of the Literature.

Abdominal injuries in children caused by guns are a rare clinical entity globally. But, in countries with undefined legal regulations and in war zones, urban violence is a tremendous social problem among older children and adolescents. This manuscript provides details regarding two cases of severe gunshot injuries in young children.