Low vitamin C concentrations and prognosis in critically ill children.

Background: The administration of high-dose vitamins has been focused on in critically ill patients as adjunctive therapy for life-threatening conditions. We evaluated the association between serum vitamin C concentrations and patient prognosis.

Methods: We retrospectively reviewed and collected clinical and biochemical data, including thiamine and vitamin C levels, of patients admitted to the pediatric intensive care unit (PICU).

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.

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).

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).

Factors Affecting Urogenital Health Behaviors in Women Serving in the Korean Military: A Mixed Methods Study.

Background: Although women serving in the Korean military are steadily increasing, little is known on the status and related factors of their urogenital health behaviors (UHB), especially during field training. This study aims to identify UHB status and its affecting factors among female military personnel in South Korea.

Materials And Methods: An exploratory sequential mixed methods design was used.

Epilepsy phenotypes and responses to antiseizure medications in pediatric patients with EEF1A2-related epilepsy.

Objective: To delineate the epilepsy spectrum and evaluate the response of pediatric patients with EEF1A2-related epilepsy to antiseizure medications (ASMs).

Methods: We conducted a retrospective analysis of seven pediatric patients with EEF1A2 mutations identified at our institution, combined with 69 cases from prior literature, resulting in a cohort of 76 patients. Data for age of seizure onset, seizure types, epilepsy syndromes, ASM responses, and neurodevelopmental outcomes were collected and analyzed.

Trio-Based Whole-Genome Sequencing for Critically Ill Pediatric Patients in Korea.

This study aimed to implement whole-genome sequencing using an automated pipeline for critically ill pediatric patients within a real-world health care system. Twenty patients under 36 months of age, admitted to the neonatal or pediatric intensive care unit or suspected of having rapidly progressive genetic disorders, were enrolled. Trio-based whole-genome sequencing was performed using an optimized processing pipeline, which automatically performed mapping, variant calling, annotation, and in silico pathogenicity assessment.

Analysis of R-loop forming regions identifies RNU2-2 and RNU5B-1 as neurodevelopmental disorder genes.

R-loops are DNA-RNA hybrid structures that may promote mutagenesis. However, their contribution to human Mendelian disorders is unexplored. Here we show excess de novo variants in genomic regions that form R-loops (henceforth, 'R-loop regions') and demonstrate enrichment of R-loop region variants (RRVs) in ribozyme, snoRNA and snRNA genes, specifically in rare disease cohorts.

Exploring gene-phenotype relationships in GRIN-related neurodevelopmental disorders.

The GRIN family is implicated in neurological disorders, such as global developmental delay (GDD) and epilepsy. We reviewed 31 patients with GRIN-related neurodevelopmental disorders at Seoul National University Hospital; all exhibited profound GDD, with 58.1% unable to walk independently and 74.

Tracking air pollution and CO emissions in 13,189 urban areas worldwide using large geospatial datasets.

Air pollution and climate change are urgent global concerns, with urban areas contributing heavily to both air pollutants and greenhouse gas emissions. Here we calculate fine particulate matter, nitrogen dioxide, and ozone concentrations and fossil-fuel carbon dioxide emissions per capita in 13,189 urban areas worldwide from 2005 to 2019 and analyze correlations between trends for these pollutants, leveraging recently-developed global datasets. Globally, we found significant increases in ozone (+6%) and small, non-significant changes in fine particulate matter (+0%), nitrogen dioxide (-1%), and fossil-fuel carbon dioxide emissions (+4%).

Pediatric new-onset super-refractory status epilepticus (NOSRSE): a case-series.

Background: New-onset super-refractory status epilepticus (NOSRSE) leads to functional deficits and residual epilepsy. This study aimed to describe pediatric NOSRSE cohort to gain clinical insights of their features.

Methods: A retrospective review of children with NOSRSE in 2013-2024 was conducted at two tertiary hospitals.

Clinical utility of complete blood count indices in pediatric MOG antibody-associated disease.

Objective: The purpose of this study was to analyze the utility of neutrophil-to-lymphocyte ratio (NLR) and platelet-to-lymphocyte ratio (PLR) in pediatric myelin-oligodendrocyte glycoprotein antibody-associated disease (MOGAD).

Methods: Retrospective review of medical record was performed to analyze association among complete blood count (CBC) indices and clinical characteristics of pediatric MOGAD patients.

Results: 61 patients were included in the analysis.

AI-driven Eyeball Exposure Rate (EER) analysis: A useful tool for assessing ptosis surgery effectiveness.

Introduction: Ptosis surgery outcomes are measured by one-dimensional metrics like Marginal Reflex Distance (MRD) and Palpebral Fissure Height (PFH) using ImageJ. However, these methods are insufficient to capture the full range of changes post-surgery. Eyeball Exposure Rate (EER) offers a more comprehensive two-dimensional perspective as metric.

Validation of the Phoenix Criteria for Sepsis and Septic Shock in a Pediatric Intensive Care Unit.

The applicability of the Phoenix criteria and Phoenix Sepsis Score in higher-resource pediatric intensive care units (PICUs) outside the United States requires further validation. A retrospective cohort study analyzed electronic health records of 1,304 PICU admissions under 18 years old with suspected infection between February 2017 and December 2023. The score was calculated using two methods: 24-hour assessment, based on worst sub-scores within 24 hours of admission, and prompt assessment, using values closest to admission within 6 hours before or after.

Insights into Tuberous Sclerosis Complex : From Genes to Clinics.

Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disorder caused by pathogenic variants of TSC1 or TSC2 genes, leading to dysregulation of the mammalian target of rapamycin (mTOR) pathway. This dysregulation results in the formation of organ-specific tumors and neurological manifestations such as seizures, intellectual disability, and developmental delays. These characteristic clinical features are crucial for diagnosis, and genetic testing is playing an increasingly significant role.

Identification of a novel non-coding deletion in Allan-Herndon-Dudley syndrome by long-read HiFi genome sequencing.

Background: Allan-Herndon-Dudley syndrome (AHDS) is an X-linked disorder caused by pathogenic variants in the SLC16A2 gene. Although most reported variants are found in protein-coding regions or adjacent junctions, structural variations (SVs) within non-coding regions have not been previously reported.

Methods: We investigated two male siblings with severe neurodevelopmental disorders and spasticity, who had remained undiagnosed for over a decade and were negative from exome sequencing, utilizing long-read HiFi genome sequencing.

Performance of Digital Mammography-Based Artificial Intelligence Computer-Aided Diagnosis on Synthetic Mammography From Digital Breast Tomosynthesis.

Objective: To test the performance of an artificial intelligence-based computer-aided diagnosis (AI-CAD) designed for full-field digital mammography (FFDM) when applied to synthetic mammography (SM).

Materials And Methods: We analyzed 501 women (mean age, 57 ± 11 years) who underwent preoperative mammography and breast cancer surgery. This cohort consisted of 1002 breasts, comprising 517 with cancer and 485 without.

In vitro and in vivo anti-inflammatory effects of 5-hydroxyconiferaldehyde via NF-κB, MAPK/AP-1, and Nrf2 modulation.

We previously reported that 5-hydroxyconiferaldehyde (5-HCA), a phenolic compound isolated from the Campanula takesimana, potently inhibits prostaglandin E (PGE) production triggered by lipopolysaccharide (LPS) in macrophages. As the precise molecular mechanisms underlying the anti-inflammatory effects of 5-HCA remain unclear, we further examined these mechanisms in LPS-stimulated RAW 264.7 macrophages and carrageenan-induced paw edema rats.

In vitro and in vivo anti-inflammatory and antinociceptive activities of a synthetic hydrangenol derivative: 5-hydroxy-2-(4-hydroxyphenyl)-4H-chromen-4-one.

In the present study, we developed and synthesized novel hydrangenol derivatives and featured their anti-inflammatory activities. Especially, a synthetic derivative 11 (compound 11), which possesses the 4H-1-benzopyran-4-one moiety, 5-hydroxyl group in A-ring, and 4'-hydroxyl group in B-ring, most dominantly downregulated nitric oxide (NO) and prostaglandin E (PGE) production in lipopolysaccharide (LPS)-induced RAW264.7 macrophages.

Involvement of p38 MAPK and MAPKAPK2 in promoting cell death and the inflammatory response to ischemic stress associated with necrotic glioblastoma.

The association of necrosis in tumors with poor prognosis implies a potential tumor-promoting role. However, the mechanisms underlying cell death in this context and how damaged tissue contributes to tumor progression remain unclear. Here, we identified p38 mitogen-activated protein kinases (p38 MAPK, a.

Phenotype of Relapsing Myelin Oligodendrocyte Glycoprotein Antibody-Associated Disease in Children.

Background And Purpose: To determine the clinical phenotypes, relapse timing, treatment responses, and outcomes of children with relapsing myelin oligodendrocyte glycoprotein antibody-associated disease (MOGAD).

Methods: We collected the demographic, clinical, laboratory, and radiological data of patients aged <18 years who had been diagnosed with MOGAD at Seoul National University Children's Hospital between January 2010 and January 2022; 100 were identified as positive for MOG antibodies, 43 of whom experienced relapse.

Results: The median age at onset was 7 years (range 2-16 years).