Unraveling the Genetic Landscape of Langerhans Cell Histiocytosis in Korean Patients: Comprehensive Insights from Mutational Profiles and Clinical Correlations.

Purpose: This study aimed to conduct a comprehensive genetic analysis of patients with Langerhans cell histiocytosis (LCH), focusing on the frequency of MAPK pathway mutations, detailed mutation profiles of MAPK pathway genes, and their correlation with clinical features and prognosis in Korean LCH patients.

Materials And Methods: We performed targeted next-generation sequencing, capable of capturing exons from 382 cancer-related genes, on genomic DNA extracted from formaldehyde-fixed and paraffin-embedded samples of 45 pathologically confirmed LCH patients.

Results: The majority of patients (91.

Child Neurology: Neurophysiologic and Anatomical Correlates in Startle Epilepsy: A Comprehensive SEEG Investigation for Successful Resective Surgery.

Startle epilepsy, characterized by startle-provoked epileptic seizures, was historically recognized as one of the reflex epilepsies but currently lacks classification as a specific epileptic syndrome because of insufficient characterization. This study presents an institutional experience and review of relevant literature focusing on the neurophysiologic and anatomical aspects of startle epilepsy. We describe a pediatric patient with an underlying structural etiology of left frontal encephalomalacia who continued to experience disabling seizures despite multiple antiseizure medications and previous palliative surgery.

Enhancing the Survival of Congenital Diaphragmatic Hernia: Quality Improvement Initiative With a Multidisciplinary Extracorporeal Membrane Oxygenation Team Approach.

Background: Extracorporeal membrane oxygenation (ECMO) is the only treatment option that can stabilize patients with congenital diaphragmatic hernia (CDH) with severe pulmonary hypertension. This study assessed the effects of a multidisciplinary ECMO team approach (META) as part of a quality improvement initiative aimed at enhancing the survival rates of neonates with CDH.

Methods: The medical records of infants with CDH treated at a tertiary center were retrospectively reviewed.

Surgical treatment for intractable cholangitis with intrahepatic biliary cysts followed by Kasai operation in biliary atresia: a retrospective cohort study.

Purpose: Intrahepatic biliary cysts (IBCs) after Kasai portoenterostomy (KPE) are associated with intractable recurrent cholangitis. This study aimed to investigate the feasibility of its use as well as indication for surgical management of IBCs in pediatric patients.

Methods: We retrospectively reviewed the medical records and imaging studies of patients who underwent KPE for biliary atresia from 2010 to 2020.

Machine Learning-Based Prediction of Blood Stream Infection in Pediatric Febrile Neutropenia.

Objectives: This study aimed to develop machine learning (ML) prediction models for identifying bloodstream infection (BSI) and septic shock (SS) in pediatric patients with cancer who presenting febrile neutropenia (FN) at emergency department (ED) visit.

Materials And Methods: A retrospective study was conducted on patients, aged younger than 18 years, who visited a tertiary university-affiliated hospital ED due to FN between January 2004 and August 2022. ML models, based on XGBoost, were developed for BSI and SS prediction.

Novel genomic variants influencing methotrexate delayed clearance in pediatric patients with acute lymphoblastic leukemia.

Background: Methotrexate (MTX) is the primary drug used in the treatment of pediatric acute lymphoblastic leukemia (ALL). However, some patients exhibit delayed clearance of high-dose (HD) MTX, which induces severe nephrotoxicity, mucositis, hepatotoxicity, and neurotoxicity. We sought to identify relevant variants associated with delayed clearance of HD-MTX in pediatric patients with ALL.

Early-Stage Femoral Head Hypoperfusion Correlates with Femoral Head Deformity at Intermediate Follow-up in Legg-Calvé-Perthes Disease.

Background: Perfusion MRI (pMRI) can quantify femoral head hypoperfusion in early-stage Legg-Calvé-Perthes disease. We investigated whether the severity of hypoperfusion measured at the early stage correlates with femoral head deformity at intermediate-term follow-up.

Methods: Sixty-three patients who were 5 to 11 years of age at the diagnosis of Legg-Calvé-Perthes disease and who had pMRI performed at an early stage (Waldenström Stage 1 to 2a) were retrospectively reviewed.

Endocrine Complications in Hepatic Glycogen Storage Diseases: A Long-term Perspective.

Objective: Patients with hepatic type of glycogen storage diseases (GSDs) can manifest endocrine features such as hypoglycemia, dyslipidemia, or osteoporosis. This study aimed to investigate the long-term endocrine consequences in patients with hepatic GSDs.

Methods: This study included 64 patients from 52 families with hepatic GSDs including GSD type Ia (41 patients from 37 families), Ib (3 unrelated), III (8 from 6 families), IV (one patient), and IX (11 from 5 families).

Lenvatinib Plus Ifosfamide and Etoposide in Children and Young Adults With Relapsed Osteosarcoma: A Phase 2 Randomized Clinical Trial.

Importance: The combination of ifosfamide and etoposide (IE) is commonly used to treat relapsed or refractory osteosarcoma; however, second-line treatment recommendations vary across guidelines.

Objective: To evaluate whether the addition of lenvatinib to IE (LEN-IE) improves outcomes in children and young adults with relapsed or refractory osteosarcoma.

Design, Setting, And Participants: The OLIE phase II, open-label, randomized clinical trial was conducted globally across Europe, Asia and the Pacific, and North America.

Identifying infrequent genetic changes in monozygotic twins afflicted with hypospadias via targeted panel sequencing.

Purpose: We aimed to identify the genetic causes of hypospadias in children using targeted gene panel sequencing for disorders of sex development (DSD).

Materials And Methods: This study included 18 twin boys with hypospadias: seven and two pairs were monozygotic and dizygotic twins, respectively, and six were discordant and three were concordant twins. Targeted gene panel sequencing for 67 known DSD genes was performed.

Exploring novel MYH7 gene variants using in silico analyses in Korean patients with cardiomyopathy.

Background: Pathogenic variants of MYH7, which encodes the beta-myosin heavy chain protein, are major causes of dilated and hypertrophic cardiomyopathy.

Methods: In this study, we used whole-genome sequencing data to identify MYH7 variants in 397 patients with various cardiomyopathy subtypes who were participating in the National Project of Bio Big Data pilot study in Korea. We also performed in silico analyses to predict the pathogenicity of the novel variants, comparing them to known pathogenic missense variants.

Postoperative Calcaneocuboid Joint Subluxation and Midtarsal Joint Changes in Pediatric Idiopathic Flexible Flatfoot Treated With Calcaneal Lengthening Osteotomy: A Midterm Follow-up Study.

Background: Calcaneal lengthening osteotomy (CLO) is one of the main surgical options for treatment of pediatric idiopathic flexible flatfoot (FFF). Reportedly, calcaneocuboid (CC) joint subluxation occurs after CLO; however, its effect on the midfoot remains unclear. This study aimed to investigate the radiologic midterm results after CLO treatment in pediatric idiopathic FFF.

Adherence to Wide-Abduction Brace Treatment is Associated With Improved Hip Abduction and Radiographic Outcomes in Legg-Calvé-Perthes Disease.

Introduction: The wide-abduction A-frame brace contains the femoral head to improve its remodeling in Legg-Calvé-Perthes disease (LCPD). There is no study of the effect of brace adherence on hip outcomes. The purpose of this study was to determine if patient adherence to A-frame brace treatment is associated with improved hip abduction range of motion and radiographic outcomes in children with LCPD.

Low-level brain somatic mutations in exonic regions are collectively implicated in autism with germline mutations in autism risk genes.

Low-level somatic mutations in the human brain are implicated in various neurological disorders. The contribution of low-level brain somatic mutations to autism spectrum disorder (ASD), however, remains poorly understood. Here, we performed high-depth exome sequencing with an average read depth of 559.

Current Pediatric Endoscopy Training Situation in the Asia-Pacific Region: A Collaborative Survey by the Asian Pan-Pacific Society for Pediatric Gastroenterology, Hepatology and Nutrition Endoscopy Scientific Subcommittee.

Purpose: To date, there is no region-specific guideline for pediatric endoscopy training. This study aimed to illustrate the current status of pediatric endoscopy training in Asia-Pacific region and identify opportunities for improvement.

Methods: A cross-sectional survey, using a standardized electronic questionnaire, was conducted among medical schools in the Asia-Pacific region in January 2024.

Prevalence of Inflammatory Bowel Disease Unclassified, as Estimated Using the Revised Porto Criteria, among Korean Pediatric Patients with Inflammatory Bowel Disease.

Purpose: Few studies have reported the prevalence of inflammatory bowel disease unclassified (IBDU) among Korean pediatric IBD (PIBD) population. To address this gap, we used two tertiary centers and nationwide population-based healthcare administrative data to estimate the prevalence of Korean pediatric IBDU at the time of diagnosis.

Methods: We identified 136 patients aged 2-17 years with newly diagnosed IBD (94 Crohn's disease [CD] and 42 ulcerative colitis [UC]) from two tertiary centers in Korea between 2005 and 2017.

Ruxolitinib in treatment-naive or corticosteroid-refractory paediatric patients with chronic graft-versus-host disease (REACH5): interim analysis of a single-arm, multicentre, phase 2 study.

Background: Chronic graft-versus-host disease (GVHD) is a debilitating, and sometimes life threatening, complication of allogeneic haematopoietic stem-cell transplantation (HSCT). We aimed to investigate the activity, pharmacokinetics, and safety of ruxolitinib added to corticosteroids in paediatric patients (ie, <18 years) with moderate-to-severe chronic GVHD.

Methods: In this single-arm, phase 2 study, patients were recruited at 21 hospitals or clinics across 14 countries in Asia, Europe, and Canada.

Clinical Applicability and Safety of Conventional Frame-Based Stereotactic Techniques for Stereoelectroencephalography.

Objective: Stereoelectroencephalography (SEEG) is increasingly being recognized as an important invasive modality for presurgical evaluation of epilepsy. This study focuses on the clinical and technical considerations of SEEG investigations when using conventional frame-based stereotaxy, drawing on institutional experience and a comprehensive review of relevant literature.

Methods: This retrospective observational study encompassed the surgical implantation of 201 SEEG electrodes in 16 epilepsy patients using a frame-based stereotactic instrument at a single tertiary-level center.

Safety and efficacy of selumetinib in pediatric and adult patients with neurofibromatosis type 1 and plexiform neurofibroma.

Background: The MEK inhibitor, selumetinib, reduces plexiform neurofibroma (PN) in pediatric patients with neurofibromatosis type 1 (NF1). Its safety and efficacy in adults with PN and effectiveness in other NF1 manifestations (eg, neurocognitive function, growth reduction, and café-au-lait spots) are unknown.

Methods: This open-label, phase II trial enrolled 90 pediatric or adult NF1 patients with inoperable, symptomatic, or potentially morbid, measurable PN (≥3 cm).

Survey of patient satisfaction with genetic counseling services in Korea.

Since the 1990s, genetic clinics have been established in South Korea, enabling the provision of clinical genetics services. However, genetic counseling services are not widely used in the medical system. In contrast, recently, the demand for genetic counseling has increased due to the rapid development of genomic medicine.