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.

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.

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.

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.

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.

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.

A Survey of the Course: 'How to Successfully Write a Scientific Article'.

Background: The aim of the present survey was to analyze the knowledge and skills in medical paper writing of physicians who attended the course "how to write successfully a scientific paper."

Methods: A blind survey was used to analyze participants' knowledge on the topic of the course "how to write successfully a scientific paper." Before starting the workshop, participants anonymously filled out the input questionnaire containing 12 preliminary data questions.

Determinants of health-related quality of life in children and adolescents living with type 1 diabetes mellitus during the COVID-19 pandemic.

Aim: To identify the determinants of self-reported health-related quality of life in children and adolescents with type 1 diabetes mellitus during the coronavirus pandemic.

Design: A cross-sectional study.

Methods: The study sample included 182 children and adolescents who had been diagnosed with type 1 diabetes mellitus at least 3 months prior.

Serotype distribution, antimicrobial susceptibility and molecular epidemiology of invasive in the nine-year period in Serbia.

is one of the leading bacterial pathogens that can cause severe invasive diseases. The aim of the study was to characterize invasive isolates of obtained during the nine-year period in Serbia before the introduction of the pneumococcal conjugate vaccines (PCVs) into routine vaccination programs by determining: serotype distribution, the prevalence and genetic basis of antimicrobial resistance, and genetic relatedness of the circulating pneumococcal clones. A total of 490 invasive isolates were included in this study.

Targeting B7-H3-A Novel Strategy for the Design of Anticancer Agents for Extracranial Pediatric Solid Tumors Treatment.

Recent scientific data recognize the B7-H3 checkpoint molecule as a potential target for immunotherapy of pediatric solid tumors (PSTs). B7-H3 is highly expressed in extracranial PSTs such as neuroblastoma, rhabdomyosarcoma, nephroblastoma, osteosarcoma, and Ewing sarcoma, whereas its expression is absent or very low in normal tissues and organs. The influence of B7-H3 on the biological behavior of malignant solid neoplasms of childhood is expressed through different molecular mechanisms, including stimulation of immune evasion and tumor invasion, and cell-cycle disruption.

A Novel Variant in the Gene Associated with Distinct Phenotype.

Deficiency of lysosomal acid lipase (LAL-D) is caused by biallelic pathogenic variants in the gene. Spectrum of LAL-D ranges from early onset of hepatosplenomegaly and psychomotor regression (Wolman disease) to a more chronic course (cholesteryl ester storage disease - CESD). The diagnosis is based on lipid and biomarker profiles, specific liver histopathology, enzyme deficiency, and identification of causative genetic variants.

Modeling of -Based Podocytopathy Using Nephrocytes.

Introduction: Genetic disorders are among the most prevalent causes leading to progressive glomerular disease and, ultimately, end-stage renal disease (ESRD) in children and adolescents. Identification of underlying genetic causes is indispensable for targeted treatment strategies and counseling of affected patients and their families.

Methods: Here, we report on a boy who presented at 4 years of age with proteinuria and biopsy-proven focal segmental glomerulosclerosis (FSGS) that was temporarily responsive to treatment with ciclosporin A.

The Role of Advanced Glycation End Products on Dyslipidemia.

Disorders of lipoprotein metabolism and glucose homeostasis are common consequences of insulin resistance and usually co-segregate in patients with metabolic syndrome and type 2 diabetes mellitus (DM). Insulin-resistant subjects are characterized by atherogenic dyslipidemia, a specific lipid pattern which includes hypertriglyceridemia, reduced high-density lipoprotein cholesterol level, and increased proportion of small, dense low-density lipoprotein (LDL). Chronic hyperglycemia favors the processes of non-enzymatic glycation, leading to the increased production of advanced glycation end products (AGEs).

Clinical practice recommendations for primary hyperoxaluria: an expert consensus statement from ERKNet and OxalEurope.

Primary hyperoxaluria (PH) is an inherited disorder that results from the overproduction of endogenous oxalate, leading to recurrent kidney stones, nephrocalcinosis and eventually kidney failure; the subsequent storage of oxalate can cause life-threatening systemic disease. Diagnosis of PH is often delayed or missed owing to its rarity, variable clinical expression and other diagnostic challenges. Management of patients with PH and kidney failure is also extremely challenging.

Quality of Life of Elementary School Students with Type 1 Diabetes in a Developing Country during the COVID Pandemic.

Type 1 diabetes (T1D) is a condition that affects all aspects of life, and thus is closely related to the quality of life itself. Dealing with it during the COVID-19 pandemic is a big challenge. A case-control study conducted in Montenegro at the end of 2021 included 87 elementary school students with T1D and 248 of their peers as controls matched by gender.

Trends in nationwide incidence of pediatric type 1 diabetes in Montenegro during the last 30 years.

Significant and unexplained variations in type 1 diabetes (T1D) incidence through the years were observed all around the world. The update on this disorder's incidence is crucial for adequate healthcare resource planning and monitoring of the disease. The aim of this study was to give an update on the current incidence of pediatric T1D in Montenegro and to analyze incidence changes over time and how the exposure to different factors might have affected it.

Downregulation of mapk/mak/mrk overlapping kinase 1 in peripheral blood mononuclear cells of pediatric patients with type 1 diabetes mellitus.

Background: Type 1 diabetes mellitus (T1DM) is one of the most common endocrine diseases in children. T-cell autoreactivity toward b-cells is controlled by significant changes in metabolism of T cells. Mammalian target of rapamycin (mTOR) is an important intracellular regulator of metabolism and cell growth.