Increased Phenotype Severity Associated with Splice-Site Variants in a Hungarian Pediatric Neurofibromatosis 1 Cohort: A Retrospective Study.

Neurofibromatosis type 1 (NF1) is a complex neurocutaneous disorder caused by pathogenic variants in the gene. Although genotype-phenotype correlation studies are increasing, robust clinically relevant correlations have remained limited. We conducted a retrospective analysis of data obtained from a cohort of 204 Hungarian individuals, with a mean age of 16 years (age range: 1-33 years).

Body composition changes and clinical outcomes in pediatric cystic fibrosis during 24 months of lumacaftor ivacaftor therapy based on real-world data.

Clinical trials demonstrate the short-term efficacy of dual CFTR modulators, but long-term real-world data is limited. We aimed to investigate the effects of 24-month lumacaftor/ivacaftor (LUM/IVA) therapy in pediatric CF patients (pwCF). This observational study included pwCF homozygous for F508del mutation treated between 2021 and 2023.

The effect of an additional pre-extubational loading dose of caffeine citrate on mechanically ventilated preterm infants (NEOKOFF trial): Study protocol for a multicenter randomized clinical trial.

Background: Minimizing the duration of mechanical ventilation is one of the most important therapeutic goals during the care of preterm infants at neonatal intensive care units (NICUs). The rate of extubation failure among preterm infants is between 16% and 40% worldwide. Numerous studies have been conducted on the assessment of extubation suitability, the optimal choice of respiratory support around extubation, and the effectiveness of medical interventions.

Occurrence and Time of Onset of Intraventricular Hemorrhage in Preterm Neonates: A Systematic Review and Meta-Analysis of Individual Patient Data.

Importance: Intraventricular hemorrhage (IVH) has been described to typically occur during the early hours of life (HOL); however, the exact time of onset is still unknown.

Objective: To investigate the temporal distribution of IVH reported in very preterm neonates.

Data Sources: PubMed, Embase, Cochrane Library, and Web of Science were searched on May 9, 2024.

Onset of pancreatic cancer before and after acute pancreatitis: A multicenter longitudinal cohort study.

Background: Pancreatic cancer (PC) is a leading cause of cancer mortality, often diagnosed at advanced stages. Acute pancreatitis (AP), particularly idiopathic cases, may serve as an early indicator of PC.

Objective: This multicenter cohort study investigated the incidence of PC before and after an AP episode, focusing on idiopathic AP and the role of pseudocysts as potential early markers for PC development.

Inguinal hernioplasty in children-open or laparoscopic?: A retrospective cohort study of 1,072 cases.

Purpose: The most common surgical intervention in childhood is inguinal hernioplasty. The advantage of laparoscopic approach is still questionable, therefore our aim was to compare open hernia repair (OHR) and PIRS (Percutaneous Internal Ring Suturing) technique at the authors' institute.

Methods: An observational retrospective cohort study was conducted between 2013 and 2021.

Concomitant virus infection increases mortality and worsens outcome of acute pancreatitis: A systematic review and meta-analysis.

Background: Acute pancreatitis (AP) is a major health threat, with a high mortality rate in severe forms. Though alcohol and bile-induced factors are the most common causes, increasing evidence suggests that viral infections such as severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) and human immunodeficiency virus (HIV) may also trigger AP development. Our study aims to explore this association in greater detail.

Prognostic Value of Baseline Serum Pro-Inflammatory Cytokines in Severe Multisystem Inflammatory Syndrome in Children.

Severe clinical manifestations of multisystem inflammatory syndrome in children (MIS-C) are associated with the dysregulation of immune response following SARS-CoV-2 infection. Therefore, we analyzed the levels of 10 selected cytokines at admission to estimate disease severity and to predict the length of hospitalization. In remission samples, these mediators were followed after intravenous immunoglobulin (IVIG) treatment before discharge.

Examination of the Corneal Endothelium in Patients With Congenital Aniridia With a PAX6 Mutation Using In Vivo Confocal Laser Scanning Microscopy.

Purpose: In PAX6 syndrome, it is still not clear, whether prenatally, parallel to the iris tissue developmental anomaly, there is neural ectodermal, neural crest, or mesodermal cell deposition at the corneal endothelium, affecting endothelial structure and function. In addition, because of the postnatal corneal inflammation and commonly appearing secondary glaucoma, progressive endothelial changes are expected. Our purpose was to study the corneal endothelium in subjects with PAX6 aniridia, using in vivo confocal laser scanning microscopy.

The discrepancies in parent and teacher reports of children's behavioral inhibition provide domain-specific information about psychopathology and parenting.

Introduction: Behavioral inhibition is a temperamental factor that increases the risk of internalizing disorders. Therefore, the identification of highly inhibited children is of great importance. However, informant discrepancies make this process difficult.

From simple factors to artificial intelligence: evolution of prognosis prediction in childhood cancer: a systematic review and meta-analysis.

Background: Current paediatric cancer care requires innovative approaches to predict prognosis that facilitates personalised stratification, yet studies on the performance, composition and limitations of contemporary prognostic models are lacking. We aimed to compare the accuracy of traditional and advanced prognostic models.

Methods: A systematic search for this systematic review and meta-analysis (CRTN42022370251) was conducted in PubMed, Embase, Scopus, and the Cochrane Library databases on 28 June 2024.

Novel approach to assess sarcopenia in children with inflammatory bowel disease.

Introduction: Sarcopenia is associated with poor clinical outcomes in chronic diseases. Our study aimed to characterize body composition (BC) parameters in patients with inflammatory bowel disease (IBD) and compare skeletal muscle mass (SMM) parameters with the healthy pediatric population.

Methods: BC of healthy controls (HC) and of patients with IBD were measured via multifrequency bioelectrical impedance (InBody 720 device) in a cross-sectional manner.

Hepaticogastrostomy versus hepaticogastrostomy with antegrade stenting for malignant biliary obstruction: a systematic review and meta-analysis.

Background: Combining antegrade stenting (AGS) and hepaticogastrostomy (HGS) is an increasingly used endoscopic ultrasound-guided intervention when stenting by endoscopic retrograde cholangiopancreatography is impossible.

Objectives: We comprehensively assessed the benefits and downsides of combined AGS and HGS (HGS procedure with AGS, HGAS).

Data Sources And Methods: From 788 HGS and 295 HGAS cases, a random-effects meta-analysis was performed using the Preferred Reporting Items for Systematic Reviews and Meta-Analyses protocol.

Real-World Study of Ragweed Sublingual Immunotherapy in Hungary.

Background: Ragweed () has become invasive in Europe, causing significant respiratory issues. Subcutaneous allergen immunotherapy (SCIT) has long been used to manage pollen allergies, but sublingual immunotherapy (SLIT) has gained interest.

Objective: This study aimed to evaluate the clinical benefits of ragweed SLIT under real-world in a cohort of Hungarian patients allergic to ragweed pollen.

The significance of CD49f expression in pediatric B-cell acute lymphoblastic leukemia.

Objectives: CD49f is an adhesion molecule present on malignant lymphoblasts in B-cell acute lymphoblastic leukemia; it is associated with a poor prognosis. CD49f expression has been proposed as a marker for measurable residual disease (MRD) marker, but this marker has yet to be implemented in clinical practice.

Methods: In this study, we used flow cytometry to detect CD49f expression by leukemic blasts in paired bone marrow and cerebrospinal fluid samples at diagnosis and bone marrow at day 15 of treatment.

Lessons from COVID-19 for behavioural and communication interventions to enhance vaccine uptake.

The Covid pandemic has yielded new insights into psychological vaccine acceptance factors. This knowledge serves as a basis for behavioral and communication interventions that can increase vaccination readiness for other diseases.

Panel miRNAs are potential diagnostic markers for chronic kidney diseases: a systematic review and meta-analysis.

Background: Accurate detection of kidney damage is key to preventing renal failure, and identifying biomarkers is essential for this purpose. We aimed to assess the accuracy of miRNAs as diagnostic tools for chronic kidney disease (CKD).

Methods: We thoroughly searched five databases (MEDLINE, Web of Science, Embase, Scopus, and CENTRAL) and performed a meta-analysis using R software.