Cholelithiasis in Infants: Risk Factors, Management, and the Role of Ursodeoxycholic Acid.

Background: Cholelithiasis is a rare disease in infants, and there is limited data on its risk factors and management.

Objectives: To evaluate the risk factors, management, and response to medical treatment of cholelithiasis in infants.

Methods: Infants diagnosed with cholelithiasis by ultrasound between 2018 and 2023 were retrospectively analyzed.

Clinical features and molecular genetics of patients with RASopathies: expanding the phenotype with rare genes and novel variants.

Unlabelled: The RASopathies are a group of disorders resulting from a germline variant in the genes encoding the Ras/mitogen-activated protein kinase pathway. These disorders include Noonan syndrome (NS), cardiofaciocutaneous syndrome (CFC), Costello syndrome (CS), Legius syndrome (LS), and neurofibromatosis type 1 (NF1), and have overlapping clinical features due to RAS/MAPK dysfunction. In this study, we aimed to describe the clinical and molecular features of patients exhibiting phenotypic manifestations consistent with RASopathies.

The impact of multiplex nested gastrointestinal PCR panel in children with gastroenteridis requiring pediatric infectious disease consultation.

Unlabelled: Infectious gastroenteritis is an important cause of morbidity and mortality, especially in nations with middle and low incomes. In a pediatric gastroenteritis patient, the aim was to determine the therapeutic impact of using the Gastrointestinal Panel in our clinical practice. A single-center retrospective study was designed to evaluate children who were admitted to the hospital for gastroenteritis and had a gastrointestinal panel between August 2021 and January 2024.

Polycystic Ovary Syndrome Accompanied by Hyperandrogenemia or Metabolic Syndrome Triggers Glomerular Podocyte Injury.

To determine whether the urinary excretion of podocyte degradation products varies according to PCOS phenotype and metabolic syndrome (MetS). The concentrations of podocalyxin (PDX) and nephrin, chronic markers of podocyte damage, and neutrophil gelatinase-associated lipocalin (NGAL), a marker of acute glomerular damage, were analyzed in the morning urine samples of 50 PCOS patients and 50 healthy controls matched by age and BMI. Albuminuria was assessed by calculating the urine albumin-creatinine ratio (uACR).

Percutaneous Metallic Stents in Malignant Biliary Obstruction: Comparison of Nitinol and Wall Stents.

Introduction: Palliation of malign biliary obstruction is important which is commonly carried out by percutaneous biliary stenting. Our primary aim with this study was assessment of performance of wall stents, and nitinol stents for the palliation of malign biliary obstruction.

Methods: The medical records of 157 patients who underwent biliary stenting in our department between January 1, 1995, and December 31, 2005, were retrospectively analyzed.

Multidisciplinary treatment for a patient with Pentalogy of Cantrell in the COVID-19 pandemic.

In this article, we present a multidisciplinary approach for the treatment of a patient with Pentalogy of Cantrell, dextrocardia, perimembranous ventricular septal defect, secundum atrial septal defect, pulmonary valvular stenosis, and left ventricle diverticulum during the novel coronavirus disease 2019 pandemic.

The impact of screening for tuberculosis exposure in the household in children with tuberculosis disease: A difficult riddle to solve.

Background: Tuberculosis (TB) infection is transmitted by sharing the same airway with people with active TB. Children are often not considered the source of TB bacilli, and index case investigation is carried out after diagnosis. Here, we describe the impact of the presence of a household index case on childhood TB disease.

The evaluation of the burden of multisystem inflammatory syndrome in children on health economics.

Objectives: This study aimed to evaluate the diagnostic tests and treatments applied in patients with multisystem inflammatory syndrome in children (MIS-C) and to determine the effect of the disease on health costs.

Patients And Methods: This retrospective cohort study included 59 MIS-C patients (40 males, 19 females; mean age: 7.7±4.

Comparison of clinical features of cystic fibrosis patients eligible but not on CFTR modulators to ineligible for CFTR modulators.

Introduction: Cystic fibrosis transmembrane conductance regulator (CFTR) modulator drugs target the underlying defect and improve CFTR function. They are a part of standard care in many countries, but not all patients are eligible for these drugs due to age and genotype. Here, we aimed to determine the characteristics of non-eligible patients for CFTR modulators in the CF registry of Turkey (CFRT) to highlight their clinical needs.

Sirolimus is effective and safe in childhood relapsed-refractory autoimmune cytopenias: A multicentre study.

Autoimmune cytopenias are a heterogeneous group of disorders characterized by immune-mediated destruction of haematopoietic cell lines. Effective and well-tolerated treatment options for relapsed-refractory immune cytopenias are limited. In this study, the aim was to evaluate the efficacy and safety of sirolimus in this disease group within the paediatric age group.

Identification of the molecular etiology in rare congenital hemolytic anemias using next-generation sequencing with exome-based copy number variant analysis.

Objectives: In congenital hemolytic anemias (CHA), it is not always possible to determine the specific diagnosis by evaluating clinical findings and conventional laboratory tests. The aim of this study is to evaluate the utility of next-generation sequencing (NGS) and clinical-exome-based copy number variant (CNV) analysis in patients with CHA.

Methods: One hundred and forty-three CHA cases from 115 unrelated families referred for molecular analysis were enrolled in the study.

The impact of the BIOFIRE Blood Culture Identification 2 Panel on antimicrobial treatment of children with suspected systemic inflammatory response syndrome and sepsis.

This study aimed to assess the therapeutic effects of implementing the BioFire Blood Culture Identification 2 (BCID2) Panel (bioMérieux, Marcy l'Etoile, France) in the clinical practice of children with sepsis. This retrospective cross-sectional study included children from 15 days of age to 18 years old with sepsis and of whom the BCID2 Panel was studied from the positive blood culture. If the antimicrobial treatment was changed according to the results of BCID2 Panel, it was recorded and re-grouped as targeted antimicrobial therapy, de-escalation of the antimicrobial treatment and shifting to another antimicrobial drug if any antimicrobial resistance was detected.

Aorto-left ventricular tunnel: the necessity of early surgical intervention.

Aorto-left ventricular tunnel, also known as aorto-left ventricular fistula, is a rare CHD characterised by an abnormal connection between the aorta and the left ventricle. This article presents a comprehensive case report on aorto-left ventricular tunnel, encompassing clinical presentation, diagnostic approaches, treatment options, and outcomes, with a specific focus on the necessity of early surgical intervention.

Acquired factor VII deficiency in pediatric inflammatory bowel disease: Report of three cases.

Bleeding disorders can exacerbate gastrointestinal bleeding in inflammatory bowel disease (IBD) at the time of diagnosis or flares. Factor VII (FVII) deficiency is a life-threatening rare congenital bleeding disorder in childhood. This study describes three adolescent patients with IBD accompanied by acquired FVII deficiency.

THE THERAPEUTIC EFFECT OF ALLOPURINOL IN FATTY LIVER DISEASE IN RATS.

Background: Hyperuricemia is associated with non-alcoholic fatty liver disease (NAFLD).

Aim: We therefore aimed at evaluating the influence of allopurinol on the course of NAFLD in rats.

Study Design: We divided 21 mature albino Sprague Dawley rats into three groups: controls (n = 7, normal diet for 12 weeks); NAFLD rat models (by feeding water containing 30% fructose for first 8 weeks) treated with allopurinol subsequently for the next 4 weeks (n = 7); and similar case treated with placebo (saline) subsequently for the next 4 weeks (n = 7).

The frequency of Duchenne muscular dystrophy/Becker muscular dystrophy and Pompe disease in children with isolated transaminase elevation: results from the observational VICTORIA study.

Introduction: Elevated transaminases and/or creatine phosphokinase can indicate underlying muscle disease. Therefore, this study aims to determine the frequency of Duchenne muscular dystrophy/Becker muscular dystrophy (DMD/BMD) in male children and Pompe disease (PD) in male and female children with isolated hypertransaminasemia.

Methods: This multi-center, prospective study enrolled patients aged 3-216 months with serum alanine transaminase (ALT) and/or aspartate transaminase (AST) levels >2× the upper limit of normal (ULN) for ≥3 months.