Development of a prediction tool for kidney function decline in children with chronic kidney disease.

Background: A paucity of literature exists on the development of predictive tools for the decline of kidney function in pediatric chronic kidney disease (CKD). The objective of this study is to develop and internally validate a tool for the short-term prediction of a kidney function decline in pediatric patients with CKD.

Methods: A total of 539 patients participating in the KNOW-PedCKD (KoreaN cohort study for Outcomes in patients With Pediatric Chronic Kidney Disease) were evaluated for 48 variables related to sociodemographic characteristics, laboratory data, and treatment use.

Role of the Right Ventricle Overhaul Procedure in Comprehensive Management for Pulmonary Atresia With Intact Ventricular Septum - A Magnetic Resonance Imaging-Based Study.

Background: We evaluated the surgical outcomes of modified right ventricle (RV) overhaul (mRVOh), implemented as part of comprehensive management for pulmonary atresia with intact ventricular septum (PA-IVS).

Methods And Results: Twenty-five mRVOh procedures were performed in 23 patients with PA-IVS without RV-dependent coronary circulation. The procedure involved RV sinus myectomy, infundibular muscle resection, and tricuspid valve (TV) and pulmonary valve (PV) repair.

Diagnostic Accuracy of Serological Tests for Infections in Children with Pneumonia, Based on Symptom Onset.

Background: is a major cause of community-acquired pneumonia (CAP) in children, with a rising incidence of macrolide resistance. Early diagnosis is crucial for reducing the disease burden; however, current diagnostic tools have limitations. We evaluated the diagnostic accuracy of serological assays and their performance based on symptom onset in children with CAP.

Vitamin D Deficiency and Secondary Hyperparathyroidism as Potential Causes of Idiopathic Knee Angular Deformity: A Prospective Cross-Sectional Comparative Study.

Background: Genu valgum and genu varum have various causes; however, the cause in some children remains unknown, leading to a diagnosis of idiopathic angular deformity. In this study, we investigated whether vitamin D deficiency could lead to idiopathic knee angular deformity in the absence of typical radiographic findings of rickets by examining serum markers in affected children and controls.

Methods: In this prospective cross-sectional comparative study, we evaluated 38 children aged 7 to 14 years with genu valgum or varum without medical conditions or radiographic findings affecting lower limb alignment and 29 controls.

Clinical Implications of Leaflet Thrombosis After Percutaneous Pulmonary Valve Implantation With the Pulsta Valve: Life-Long Aspirin Is Necessary?

Background: Hypo-attenuated leaflet thickening (HALT) is a subclinical finding on cardiac computed tomography (CT) associated with leaflet thrombosis in bioprosthetic valves. However, its incidence and risk factors following percutaneous pulmonary valve implantation (PPVI) remain poorly characterized.

Aims: This study aimed to determine the incidence of HALT after PPVI and to identify clinical and procedural factors associated with its occurrence.

Dietary management of pediatric patients with kidney disease: recommendations by The Korean Society of Pediatric Nephrology and The Korean Society of Clinical Nutrition.

Pediatric kidney disease has a relatively lower prevalence than do other pediatric conditions and has a notably different etiology from kidney diseases observed in adults. Furthermore, the pediatric population is unique in that they experience ongoing growth and development, distinguishing them from adult patients. Consequently, pediatric patients with kidney disease require more specialized and meticulous nutritional management than do adults.

Revisiting the Effect of Udenafil on Exercise Performance in Patients With Fontan Circulation: Results of a Post Hoc Analysis of the FUEL Trial.

Background: In the FUEL (Fontan Udenafil Exercise Longitudinal) trial, a positive treatment effect was identified for outcomes at the ventilatory anaerobic threshold but not for the primary outcome, oxygen consumption (Vo) at peak exercise. This disparate response may be explained by the physiologic challenge of improving peak Vo in participants with near-normal baseline exercise performance.

Methods: Participants were divided into subgroups by baseline predicted peak Vo (<80% versus ≥80%).

Neuroimaging spectrum of myelin oligodendrocyte glycoprotein antibody-associated disease with brain involvement: description of various cerebral syndromes.

Background: Myelin oligodendrocyte glycoprotein antibody-associated disease (MOGAD) is a notable cause of acquired central nervous system inflammatory disorders in children.

Objective: This study aimed to characterize the neuroimaging spectrum of pediatric MOGAD with brain involvement.

Materials And Methods: In this retrospective, single-center study, 55 children diagnosed with MOGAD involving the brain between January 2010 and October 2020 were included.

Arrhythmic Risk and Clinical Features in Catecholaminergic Polymorphic Ventricular Tachycardia: Results From a Multicenter Study in Korea.

Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a rare but life-threatening inherited arrhythmia in children, often associated with sudden cardiac death (SCD). Risk stratification remains challenging. This study aimed to assess clinical characteristics, genetic profiles, and risk factors for adverse outcomes in Korean pediatric CPVT patients.

Biallelic BRF2 mutations disrupt redox homeostasis as etiological factors in syndromic immunodeficiency and developmental disorders.

TFIIB-related factor 2 (BRF2) is a critical component in the recruitment of RNA polymerase III (RNA Pol III) to type III promoters containing a TATA box. These promoters regulate the expression of key elements such as U6 spliceosomal RNA, the tRNA processing enzyme RNase P, and selenocysteine tRNA. Despite the essential role of BRF2, the genetic disorders associated with BRF2 mutations and their molecular pathogenesis remain poorly defined.

Surgical treatment for complex adult lumbosacral lipomas excluding retethered cases: what are the benefits?

Objective: Although spinal dysraphism is a congenital anomaly, it is also diagnosed and treated in adults. The aim of this study was to analyze the clinical outcomes of adult patients with complex lumbosacral lipomatous malformations (LLMs).

Methods: Patients aged 19 years and older who were diagnosed with LLMs from January 2000 to December 2023 at a single institution were retrospectively reviewed.

Respiratory severity score-guided postnatal systemic corticosteroid therapy for bronchopulmonary dysplasia in extremely preterm infants.

Background: Bronchopulmonary dysplasia (BPD) is a major complication in extremely preterm (EP) infants. Postnatal systemic corticosteroids reduce inflammation and may help prevent or treat BPD. However, their use is limited because of concerns regarding neurodevelopmental outcomes.

Unsustainable and overworked: unpacking the challenges faced by pediatric cardiologists and cardiac surgeons in Korea.

Background: Pediatric cardiologists (PCs) and pediatric cardiac surgeons (PedCSs) in Korea face growing workforce shortages due to declining birth rates, decreasing interest among trainees, and increasing burnout.

Purpose: This study investigated the working conditions, job satisfaction, and burnout levels among Korean PCs and PedCSs.

Methods: In June 2023, the Korean Pediatric Heart Society distributed a structured questionnaire via email to 149 members actively practicing pediatric cardiac care (115 PCs, 34 PedCSs).

Multi-Modal and Multi-View Fusion Classifier for Craniosynostosis Diagnosis.

The diagnosis of craniosynostosis, a condition involving the premature fusion of cranial sutures in infants, is essential for ensuring timely treatment and optimal surgical outcomes. Current diagnostic approaches often require CT scans, which expose children to significant radiation risks. To address this, we present a novel deep learning-based model utilizing multi-view X-ray images for craniosynostosis detection.

Contribution of rare coding variants to microcephaly in individuals with neurodevelopmental disorders.

Background: Microcephaly, characterized by an abnormally small head size, frequently co-occurs with neurodevelopmental disorders (NDDs). While the genetic basis of NDDs has been widely investigated, the contribution of rare coding variants to microcephaly remains poorly understood.

Methods: We investigated the relationships between head circumference and rare coding variants in 418 individuals with microcephaly, analyzing data from 1050 exomes (312 trios and 106 proband-only samples).

AI-powered 3D pathology protocol enhances enteric nervous system visualization and quantification for clinical diagnostics.

Accurate diagnosis and understanding of gastrointestinal (GI) diseases such as ulcerative colitis and Hirschsprung's disease remain challenging due to the limitations of traditional two-dimensional (2D) histopathology in capturing the intricate three-dimensional (3D) architecture and dynamic microenvironment of GI tissues. This study explores the potential of integrating 3D imaging techniques with artificial intelligence (AI)-based analysis to improve histological evaluation and diagnostic accuracy. Using advanced imaging and computational tools, we identified critical structural and functional details of the enteric nervous system and associated tissues that are often missed by 2D approaches.

Clinical features and outcomes of paediatric probable antibody-negative autoimmune encephalitis.

Aim: To evaluate the clinical features and outcomes of paediatric probable antibody-negative autoimmune encephalitis.

Method: This retrospective cohort study included 66 patients (43 males and 23 females) with probable antibody-negative autoimmune encephalitis. Clinical outcomes were assessed using the modified Rankin Scale (mRS) and the Clinical Assessment Scale in Autoimmune Encephalitis (CASE).

Martinostat as a novel HDAC inhibitor to overcome tyrosine kinase inhibitor resistance in chronic myeloid leukemia.

Background: Chronic myeloid leukemia (CML) remains a therapeutic challenge, particularly in patients who develop resistance to standard tyrosine kinase inhibitors (TKIs) such as imatinib. Here, we present the first demonstration of the potent anti-leukemic activity of the histone deacetylase (HDAC) inhibitor martinostat in both TKI-sensitive and TKI-resistant CML.

Methods And Results: Structural and biochemical analyses confirmed the efficient and selective binding of martinostat to HDAC isoenzyme ligand-binding pockets, resulting in histone and tubulin hyperacetylation in both imatinib-sensitive and resistant CML cells, outperforming vorinostat, a clinically used HDAC inhibitor (HDACi).

Plasma extracellular vesicle-associated miR-512-3p modulates angiogenesis in pediatric Moyamoya disease by targeting ARHGEF3.

Moyamoya disease (MMD) is a chronic cerebrovascular disorder and a leading cause of pediatric stroke. Extracellular vesicles (EVs) carrying microRNAs (miRNAs) play a pivotal role in intercellular communication within cerebrovascular diseases. This study aimed to identify specific miRNAs within plasma-derived EVs from MMD patients and investigate their functional implications.

Comprehensive genetic profiling of sensorineural hearing loss using an integrative diagnostic approach.

Despite the advent of next-generation sequencing, diagnosing genetic disorders remains challenging. We perform comprehensive genomic profiling of 394 families (752 individuals) with sensorineural hearing loss (SNHL) using a systematic multi-tiered approach, from single-gene analysis to whole-genome sequencing (WGS), complemented by functional assays and bioinformatic analysis. Our strategy achieves a cumulative diagnostic yield of 55.

Facial Asymmetry Phenotypes in Adult Patients With Bilateral Cleft Lip and Palate and Skeletal Class III Malocclusion Using Principal Component Analysis and Cluster Analysis.

Objective: To classify and characterise facial asymmetry (FA) phenotypes in adult patients with bilateral cleft lip and palate (BCLP) and skeletal Class III (C-III) malocclusion.

Materials And Methods: The samples consisted of 72 adult BCLP patients (56 males, 16 females; mean age, 21.0 years), who were candidates for orthognathic surgery (OGS) or had undergone OGS for the correction of C-III malocclusion.

Patient-Derived Cortical Organoids Reveal Senescence of Neural Progenitor Cells in Hutchinson-Gilford Progeria Syndrome.

Hutchinson-Gilford progeria syndrome (HGPS) is a rare genetic disorder characterized by premature aging and primarily caused by the accumulation of progerin, a mutant form of lamin A. Although the effects of progerin on multiple tissues have been previously studied, its impact on brain development is not completely understood. We established cortical organoids derived from HGPS patient-induced pluripotent stem cells (iPSCs) from patients with HGPS to investigate the role of progerin in the brain.

Switching from oxcarbazepine to eslicarbazepine in pediatric patients with focal epilepsy is safe and well-tolerated.

Objective: To assess the safety and tolerability of overnight switching from twice-daily oxcarbazepine to once-daily eslicarbazepine acetate (eslicarbazepine) in pediatric patients with focal epilepsy.

Methods: Pediatric patients with focal epilepsy (<19 years old) who were switched from oxcarbazepine to eslicarbazepine were recruited through a retrospective review of medical records at three tertiary hospitals. Patient outcomes were evaluated for retention rate, changes in seizure burden, and treatment-emergent adverse effects.