Splenomegaly and progressive neurologic involvement: Think about Niemann-Pick type C disease.

Background: Niemann-Pick type C (NPC) disease is a lysosomal storage disease with visceral organ involvement and neurological and psychiatric symptoms. This study presents the clinical and laboratory findings of NPC cases involving three novel variants.

Methods: The clinical and laboratory findings were reviewed retrospectively between February 2006 and December 2022.

Diagnostic yield of exome sequencing-based copy number variation analysis in Mendelian disorders: a clinical application.

Next-generation sequencing (NGS) coupled with bioinformatic tools has revolutionized the detection of copy number variations (CNVs), which are implicated in the emergence of Mendelian disorders. In this study, we evaluated the diagnostic yield of exome sequencing-based CNV analysis in 449 patients with suspected Mendelian disorders. We aimed to assess the diagnostic yield of this recently utilized method and expand the clinical spectrum of intragenic CNVs.

The Utility of Genetic Testing in Infantile Epileptic Spasms Syndrome: A Step-Based Approach in the Next-Generation Sequencing Era.

Background: To evaluate the utility of genetic testing for etiology-specific diagnosis (ESD) in infantile epileptic spasms syndrome (IESS) with a step-based diagnostic approach in the next-generation sequencing (NGS) era.

Methods: The study cohort consisted of 314 patients with IESS, followed by the Pediatric Neurology Division of Ege University Hospital between 2005 and 2021. The ESD was evaluated using a step-based approach: step I (clinical phenomenology), step II (neuroimaging), step III (metabolic screening), and step IV (genetic testing).

Molecular Genetic Diagnosis with Targeted Next Generation Sequencing in a Cohort of Turkish Osteogenesis Imperfecta Patients and their Genotype-phenotype Correlation.

Objective: Osteogenesis imperfecta (OI) consists of a group of phenotypically and genetically heterogeneous connective tissue disorders that share similar skeletal anomalies causing bone fragility and deformation. The aim was to investigate the molecular genetic etiology and determine the relationship between genotype and phenotype in OI patients using targeted next-generation sequencing (NGS).

Methods: A targeted NGS analysis panel (Illumina TruSight One) containing genes involved in collagen/bone synthesis was performed on the Illumina Nextseq550 platform in patients with a confirmed diagnosis of OI.

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.

Drug reaction with eosinophilia and systemic symptoms (DRESS) syndrome secondary to antimicrobial therapy in pediatric bone and joint infections.

Background: Bone and joint infections are common in children, particularly those under 10 years of age. While antimicrobial therapy can often successfully treat these infections, surgical drainage may also be necessary. It is important to note that prolonged courses of treatment have been associated with adverse events and drug reactions.

SARS-CoV-2 reinfections in the pediatric cohort-a single-center experience.

Background: This study focused on timelines of infection episodes and dominant variants and aims to determine disease severity and outcome of pediatric patients with reinfection.

Materials And Methods: This study retrospectively evaluated the medical records of the hospitalized patients and/or outpatients aged 0-18 with a positive severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) polymerase chain reaction between March 2020 and September 2022 at Ege University Children's Hospital.

Results: Ninety-one pediatric patients reinfected with SARS-CoV-2 were included in the study.

Molecular diagnosis in patients with monogenic diabetes mellitus, and detection of a novel candidate gene.

Aim: We aimed to investigate molecular genetic basis of monogenic diabetes (DM) and novel responsible candidate genes with targeted Next Generation Sequencing (NGS) and Whole Exome Sequencing (WES).

Methods: A hundred cases presenting with clinical findings and a family history of monogenic DM were included in the study. Molecular analysis was performed using an NGS panel including 14 genes.

The clinical phenotype of Koolen-de Vries syndrome in Turkish patients and literature review.

Koolen-de Vries syndrome (KdVS) is a rare multisystemic disorder caused by a microdeletion on chromosome 17q21.31 including KANSL1 gene or intragenic pathogenic variants in KANSL1 gene. Here, we describe the clinical and genetic spectrum of eight Turkish children with KdVS due to a de novo 17q21.

Misdiagnosis of multisystem inflammatory syndrome in children: A diagnostic challenge.

Aims: As the COVID-19 pandemic continues, multisystem inflammatory syndrome in children (MIS-C) maintains its importance in the differential diagnosis of common febrile diseases. MIS-C should be promptly diagnosed because corticosteroid and/or intravenous immunoglobulin treatment can prevent severe clinical outcomes. In this study, we aimed to evaluate clinical presentation, diagnostic parameters and management of MIS-C and compare its clinical features to those of common febrile disease.

Electrocardiographic changes in hospitalised children with COVID-19.

Objectives: Cardiac manifestations of the coronavirus disease 2019 (COVID-19) have mainly been reported in adults. Therefore, we aimed to determine the electrocardiographic abnormalities in hospitalised paediatric patients with COVID-19 and multisystemic inflammatory syndrome in children.

Methods: We retrospectively evaluated hospitalised paediatric patients <18 years of age with a diagnosis of COVID-19 (n = 168) and multisystem inflammatory syndrome in children (n = 48) between March 2021 and December 2021.

Autosomal Recessive Primary Microcephaly (MCPH) and Novel Pathogenic Variants in and Genes.

Introduction: Autosomal recessive primary microcephaly (MCPH) is a disorder characterized by congenital microcephaly and intellectual disability without extra-central nervous system malformation. MCPH is a disease with heterogeneity in genotype and phenotype. For this reason, it is important to determine the genetic causes and genotype-phenotype relationship in MCPH, which causes lifelong impairment.

Quantitative Antibody Levels Against SARS-CoV-2 Spike Protein in COVID-19 and Multisystem Inflammatory Syndrome in Children.

The majority of children with coronavirus diseases 2019 (COVID-19) are asymptomatic or develop mild symptoms, and a small number of patients require hospitalization. Multisystem inflammatory syndrome in children (MIS-C) is one of the most severe clinical courses of COVID-19 and is suggested to be a hyperinflammatory condition. This study aimed to compare quantitative antibody levels against SARS-CoV-2 spike protein in children with COVID-19 and MIS-C.

LSM1 is the new candidate gene for neurodevelopmental disorder.

Neurodevelopmental disorders are a heterogeneous group of diseases. Clinical presentation often overlaps with neurodevelopmental disorders, and explaining the molecular origin often requires reverse phenotyping. Next-Generation Sequencing (NGS) allows fast and cost-effective high-throughput sequencing.

Biallelic variants in ADAMTS15 cause a novel form of distal arthrogryposis.

Purpose: We aimed to identify the underlying genetic cause for a novel form of distal arthrogryposis.

Methods: Rare variant family-based genomics, exome sequencing, and disease-specific panel sequencing were used to detect ADAMTS15 variants in affected individuals. Adamts15 expression was analyzed at the single-cell level during murine embryogenesis.

Cardiac Assessment in Children with MIS-C: Late Magnetic Resonance Imaging Features.

Multisystem Inflammatory Syndrome (MIS-C) is a new entity that emerges 2-4 weeks after the SARS-CoV-2 infection in children. MIS-C can affect all systems, the most severe of which is cardiac involvement. The duration of the cardiac symptoms is still uncertain and may be persistent or prolonged.

Evaluation of vaccination status of health care workers for recommended vaccines and their acceptance of SARS-CoV-2 vaccines.

Introduction: Health care workers (HCWs) are disproportionately exposed to infectious diseases and play a role in nosocomial transmission, making them a key demographic for vaccination. HCW vaccination rates are not optimal in many countries; hence, compulsory vaccination policies have been implemented in some countries. Although these policies are effective and necessary under certain conditions, resolving HCWs' hesitancies and misconceptions about vaccines is crucial.

Clinical and Laboratory Findings of SARS-CoV-2 Infection in Children Younger than 6 Months Old: Neutropenia is More Common Not Lymphopenia.

Background: Studies on age-related differences in clinical and laboratory features of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection are limited. We aimed to evaluate the demographic, clinical, laboratory findings of SARS-CoV-2 infection in children younger than 6 months old and compare them with older children.

Methods: A single-center retrospective study, including 209 confirmed SARS-CoV-2 infection cases, was conducted between 11 March 2020 and 1 September 2021.