Detecting Low-Variant Allele Frequency Mosaic Pathogenic Variants of NF1, TSC2, and AKT3 Genes from Blood in Patients with Neurodevelopmental Disorders.

Growing evidence indicates that early and late postzygotic mosaicism can cause neurodevelopmental disorders (NDDs), but detection of low variant allele frequency (VAF) mosaic variants from blood remains a challenge. Data of 2162 patients with NDDs who underwent conventional genetic tests were reviewed and a deep sequencing was performed using a specifically designed mosaic next-generation sequencing (NGS) panel in the patients with negative genetic test results. Forty-four patents with neurocutaneous syndrome, malformation of cortical development, or nonlesional epileptic encephalopathies were included.

Pre- and Immediate Post-Kasai Portoenterostomy Shear Wave Elastography for Predicting Hepatic Fibrosis and Native Liver Outcomes in Patients With Biliary Atresia.

Objective: To evaluate the feasibility of ultrasound shear wave elastography (SWE) for predicting hepatic fibrosis and native liver outcomes in patients with biliary atresia.

Materials And Methods: This prospective study included 33 consecutive patients with biliary atresia (median age, 8 weeks [interquartile range, 6-10 weeks]; male:female ratio, 15:18) from Severance Children's Hospital between May 2019 and February 2022. Preoperative (within 1 week from surgery) and immediate postoperative (on postoperative days [PODs] 3, 5, and 7) ultrasonographic findings were obtained and analyzed, including the SWE of the liver and spleen.

Changes in the Prevalences of Obesity, Abdominal Obesity, and Non-Alcoholic Fatty Liver Disease among Korean Children during the COVID-19 Outbreak.

Purpose: We aimed to investigate the prevalences of obesity, abdominal obesity, and non-alcoholic fatty liver disease (NAFLD) among children and adolescents during the coronavirus disease 2019 (COVID-19) outbreak.

Materials And Methods: This population-based study investigated the prevalences of obesity, abdominal obesity, and NAFLD among 1428 children and adolescents between 2018-2019 and 2020. We assessed the prevalences of obesity, abdominal obesity, and NAFLD according to body mass index, age, sex, and residential district.

Temporary Surgical Management of Intraventricular Hemorrhage in Premature Infants.

Post-hemorrhagic hydrocephalus (PHH) in preterm infant is common, life-threatening and the main cause of bad developmental outcomes. Ventriculoperitoneal (VP) shunt is used as the ultimate treatment for PHH. Low birth weight and low gestational age are the combination of worse prognostic factors while the single most important prognostic factor of VP shunting is age.

A Nationwide Survey on Gastrointestinal Endoscopy Practice Patterns among Pediatric Endoscopists in South Korea.

Purpose: Gastrointestinal (GI) endoscopy is an important tool for diagnosing and treating GI diseases in children. This study aimed to analyze the current GI endoscopy practice patterns among South Korean pediatric endoscopists.

Methods: Twelve members of the Korean Society of Pediatric Gastroenterology, Hepatology and Nutrition developed a questionnaire.

Changes in Awareness Toward Minor's Organ Donation Through Structured Information; Survey.

This study analyzed survey results regarding awareness of living minors' organ donation. The questionnaires focused on changes in how respondents felt about donations by living minors after eliciting the uncertainty of long-term outcomes for living donors and recipients. The respondents were categorized as minors, adults affiliated with non-medical jobs (Non-Meds), and adults affiliated with medical jobs (Meds).

Erratum: Effects of Cannabidiol on Adaptive Behavior and Quality of Life in Pediatric Patients With Treatment-Resistant Epilepsy.

This corrects the article on p. 547 in vol. 18, PMID: 36062772.

Minimally Invasive Derotational Osteotomy of Long Bones: Smartphone Application Used to Improve the Accuracy of Correction.

Correction of rotational malalignments caused by fractures is essential as it may cause pain and gait disturbances. This study evaluated the intraoperative use of a smartphone application (SP app) to measure the extent of corrective rotation in patients treated using minimally invasive derotational osteotomy. Intraoperatively, two parallel 5 mm Schanz pins were placed above and below the fractured/injured site, and derotation was performed manually after percutaneous osteotomy.

The Genotype-Phenotype Correlation in Human 5α-Reductase Type 2 Deficiency: Classified and Analyzed from a SRD5A2 Structural Perspective.

The phenotype of the 5α-reductase type 2 deficiency (5αRD2) by the gene mutation varies, and although there have been many attempts, the genotype-phenotype correlation still has not yet been adequately evaluated. Recently, the crystal structure of the 5α-reductase type 2 isozyme (SRD5A2) has been determined. Therefore, the present study retrospectively evaluated the genotype-phenotype correlation from a structural perspective in 19 Korean patients with 5αRD2.

Optimal Use and Need for Therapeutic Drug Monitoring of Teicoplanin in Children: A Systematic Review.

Background: Teicoplanin is a glycopeptide antimicrobial that treats serious invasive infections caused by gram-positive bacteria, such as the methicillin-resistant . Despite some comparable advantages, there is no guideline or clinical recommendation for teicoplanin in the pediatric population, unlike vancomycin where abundant studies and the recently revised guideline on therapeutic drug level monitoring (TDM) exist.

Methods: The systematic review was performed in accordance with the preferred reporting items for systematic reviews.

Relationship between short stature at 3 years old and height, weight, and body mass index changes for 6 years after birth: a retrospective, nationwide, population-based study of children born 2011-2014 in Korea.

Purpose: Height at 3 years of age, when catch-up growth based on birth history is completed, is considered a major prognostic factor for predicting short stature, underweight, and growth faltering. However, too few large-scale studies have followed and analyzed height, weight, and body mass index (BMI) changes in children whose stature was short at 3 years of age. This study followed and compared the growth parameters (height, weight, and BMI) of children with short stature at 3 years of age and children with nonshort stature at 3 years of age for 6 years after birth using nationwide, population-based data.

Comparison of the effect of gonadotropin-releasing hormone agonist dosage in girls with central precocious puberty.

Purpose: There are no definite guidelines on the optimal dosage of gonadotropin-releasing hormone (GnRH) agonist for treatment of central precocious puberty (CPP). We compared growth outcomes of GnRH agonist at different dosages in girls with idiopathic CPP to assess the optimal dosage.

Methods: This retrospective study included 86 girls with idiopathic CPP who had been treated with GnRH agonist for at least one year and had attained their final adult height.

Neurocognitive and psychosocial profiles of children with Turner syndrome.

Purpose: Patients with Turner syndrome (TS) have distinct neurocognitive and psychosocial characteristics. However, few clinical studies have reported neuropsychological findings in Korean patients. This study investigated the neurocognitive and psychosocial profiles of Korean children with TS.

Evaluation of age group and sex differences in the measurement of patellar height of pediatric knee in a Korean population.

Introduction: Various methods based on bony landmarks are used to determine patellar height. This study analyzed five methods for patellar height measurement on lateral knee radiographs, namely, the Insall-Salvati, Koshino-Sugimoto, Blackburne-Peel, modified Insall-Salvati, and Caton-Deschamps methods.

Methods: Overall, 425 pediatric participants (221 males, 204 females; age range 5-18 years) were included and were divided equally into three age groups (A, 5-10 years; B, 11-13 years; and C, 13-18 years).

Refractive Errors, Retinal Findings, and Genotype of Tuberous Sclerosis Complex: A Retrospective Cohort Study.

Purpose: To examine the refractive errors, retinal manifestations, and genotype in tuberous sclerosis complex (TSC) patients in a Korean population.

Materials And Methods: A total of 98 patients with TSC were enrolled in Severance Hospital for a retrospective cohort study. The number of retinal astrocytic hamartoma and retinal achromic patch within a patient, as well as the size, bilaterality, and morphological type were studied.

Diagnosis and Treatment of Monogenic Hypertension in Children.

Although the majority of individuals with hypertension (HTN) have primary and polygenic HTN, monogenic HTN is a secondary type that is widely thought to play a key role in pediatric HTN, which has the characteristics of early onset, refractory HTN with a positive family history, and electrolyte disorders. Monogenic HTN results from single genetic mutations that contribute to the dysregulation of blood pressure (BP) in the kidneys and adrenal glands. It is pathophysiologically associated with increased sodium reabsorption in the distal tubule, intravascular volume expansion, and HTN, as well as low renin and varying aldosterone levels.

Change in Prevalence of Hypertension among Korean Children and Adolescents during the Coronavirus Disease 2019 (COVID-19) Outbreak: A Population-Based Study.

During the coronavirus disease 2019 (COVID-19) outbreak, the prevalence of obesity increased globally; this may be associated with hypertension incidence. However, investigations on the changes in the prevalence of hypertension among children and adolescents are limited. This cross-sectional study investigated the prevalence of hypertension among 1428 youths aged 10-18 years using data from the Korea National Health and Nutrition Examination Survey 2018-2020.

Impact of mental disorders on clinical outcomes of physical diseases: an umbrella review assessing population attributable fraction and generalized impact fraction.

Empirical evidence indicates a significant bidirectional association between mental disorders and physical diseases, but the prospective impact of men-tal disorders on clinical outcomes of physical diseases has not been comprehensively outlined. In this PRISMA- and COSMOS-E-compliant umbrella review, we searched PubMed, PsycINFO, Embase, and Joanna Briggs Institute Database of Systematic Reviews and Implementation Reports, up to March 15, 2022, to identify systematic reviews with meta-analysis that examined the prospective association between any mental disorder and clinical outcomes of physical diseases. Primary outcomes were disease-specific mortality and all-cause mortality.

Comprehensive multi-omic profiling of somatic mutations in malformations of cortical development.

Malformations of cortical development (MCD) are neurological conditions involving focal disruptions of cortical architecture and cellular organization that arise during embryogenesis, largely from somatic mosaic mutations, and cause intractable epilepsy. Identifying the genetic causes of MCD has been a challenge, as mutations remain at low allelic fractions in brain tissue resected to treat condition-related epilepsy. Here we report a genetic landscape from 283 brain resections, identifying 69 mutated genes through intensive profiling of somatic mutations, combining whole-exome and targeted-amplicon sequencing with functional validation including in utero electroporation of mice and single-nucleus RNA sequencing.

A decrease in the incidence of encephalitis in South Korea during the COVID-19 pandemic: A nationwide study between 2010 and 2021.

Limited data are available on the impact of the coronavirus disease (COVID-19) pandemic on encephalitis. Therefore, we evaluated trends in encephalitis in South Korea between 2010 and 2021 using data from the National Health Insurance Service. During the pandemic (February 2020 to 2021), the monthly incidence of encephalitis declined by 0.