A5054238723- Epilepsy research and treatment
- Pharmacological Effects and Toxicity Studies
- Genetics and Neurodevelopmental Disorders
- Genomic variations and chromosomal abnormalities
- Neonatal and fetal brain pathology
- Congenital heart defects research
- Metabolism and Genetic Disorders
- Genomics and Rare Diseases
- Mitochondrial Function and Pathology
- Adipose Tissue and Metabolism
- Acute Lymphoblastic Leukemia research
- Health and Wellbeing Research
- Ion Transport and Channel Regulation
- Neurological Complications and Syndromes
- Infectious Encephalopathies and Encephalitis
- Hedgehog Signaling Pathway Studies
- Neuroscience and Neuropharmacology Research
- Childhood Cancer Survivors' Quality of Life
- Herpesvirus Infections and Treatments
- Early Childhood Education and Development
- Migraine and Headache Studies
- S100 Proteins and Annexins
- Thermal Regulation in Medicine
- Hemiptera Insect Studies
- Glioma Diagnosis and Treatment
Catholic University of Korea
2012-2021
Seoul St. Mary's Hospital
2012-2021
Yeouido St. Mary's Hospital
2019
Daejeon St. Mary's Hospital
2017
Chung-Ang University
2005
Brain insults, including neurotrauma, infection, and perinatal injuries such as hypoxic ischemic encephalopathy, generate inflammation in the brain. These inflammatory cascades induce a wide spectrum of cytokines, which can cause neuron degeneration, have neurotoxic effects on brain tissue, lead to development seizures, even if they are subclinical occur at birth. Cytokines secreted by glial cells central nervous system function immune mediators. be proinflammatory or anti-inflammatory....
To validate the clinical application of chromosomal microarray analysis (CMA) as a first-tier diagnostic test and to determine impact CMA results on patient management, we conducted multicenter prospective study in Korean patients diagnosed having developmental delay/intellectual disability (DD/ID), autism spectrum disorders (ASD), multiple congenital anomalies (MCA).We performed both G-banding cytogenetics tests 617 patients. whether directly influenced treatment recommendations, referring...
Developments in next-generation sequencing (NGS) techogies have assisted clarifying the diagnosis and treatment of developmental delay/intellectual disability (DD/ID) via molecular genetic testing. Advances DNA technology not only allowed evolution targeted panels but also, more currently enabled genome-wide analyses to progress from research era clinical practice. Broad acceptance accuracy- guided gene panel, whole-exome (WES), whole-genome (WGS) for DD/ID need prospective increasing...
Neonatal seizures remain a significant clinical problem, and therapeutic options are still not diverse with limited efficacy. Levetiracetam (LEV) is relatively new wide spectrum anti-seizure medication favorable pharmacokinetics safety profile. In the recent decades, LEV has been increasingly used for treatment of neonatal seizures. The aim this study was to describe experience using as first line preterm infants.A retrospective analysis 37 infants who were treated first-line performed.Mean...
Background: Differential diagnosis of developmental delay (DD) and/or intellectual disability (ID) is challenging because the diversity phenotypic manifestations as DD/ID patients usually have combined congenital malformations, autism-spectrum disorders, seizure disorder. Thus, unbiased genomic approaches are needed to discover genetic alterations leading DD ID. Objective: The aim this study was investigate clinical usefulness targeted next-generation sequencing (NGS) causes in 35 Korean...
Headache is a common complaint in children and adolescents. Recently, an increased prevalence of headache adolescents has been reported. We retrospectively reviewed the medical records attending Clinic Daejeon St. Mary's Hospital during period from January 2005 through December 2016. The study population consisted 2466 children, aged between 3 18 years (mean age: 10.9). Our showed increase number patients visiting hospital with headaches past decade. Compared 2005, three-fold Interestingly,...
This study was conducted to investigate long-term neurocognitive outcomes and determine associated risk factors in a cohort of Korean survivors childhood acute lymphoblastic leukemia (ALL). Forty-two ALL were compared with 42 healthy controls on measures test battery. We analysed potential (cranial irradiation, sex, age at diagnosis, elapsed time from group) outcomes. patients had lower, but non-significant full-scale intelligence quotient (FSIQ, 107.2±12.2 vs. 111.7±10.2), verbal (VIQ,...
Abstract The child with global developmental delay (GDD)/intellectual disability (ID) is deserving of the appropriate evaluation available for improving health and well‐being patients their families. To better elucidate diagnostic approach genetic tests GDD and/or ID, we evaluated results in a cohort 75 clinical features ID who were referred workup. A total children investigated or pediatric neurology department. Ten (13%, 10/75) clinically recognizable syndrome diagnosed by single‐gene...
ObjectiveVariations in hormone levels are a direct effect of epileptic discharges both animals and humans, seizure can affect the hypothalamus–pituitary–thyroid axis. The purpose this study was to determine which parameters could alternation thyroid hormones children experiencing seizure. MethodsWe retrospectively reviewed medical records 181 pediatric patients with compared three (serum thyroid-stimulating [TSH], free thyroxine [fT4], triiodothyronine [T3]) between initial (admission...
Background: Craniofrontonasal syndrome is a rare, X-linked disorder in which heterozygous females ironically reported the majority of patients and caused by EFNB1 gene located at chromosome Xq13.1. Unlike previous reports, we present female infant with de novo missense mutation that was demonstrated clinical diagnosis as global developmental delay (GDD) brain anomaly without frontonasal dysplasia or other malformation. Case Presentation: This study reports genetic analysis 4-month-old...
Rationale: Stroke is an uncommon disease in childhood with estimated incidence of 1 to 6 per 100,000 and stenoocclusive arteriopathy the main risk factor recurrent pediatric arterial ischemic stroke (AIS). Dyslipidemia may influence strongly before puberty late adolescence when plasma levels are naturally highest. Patient concerns: An 11-year-old male presented acute onset seizure, a drowsy mentality, right hemiplegia. Diagnoses: Magnetic resonance (MR) angiogram demonstrated occlusion...
This case report describes a successful use of normothermic targeted temperature management (TTM) for the treatment 14-year-old girl with exertional heat stroke. Upon hospitalization, she exhibited 40.5 ℃ core and multiorgan failure. We immediately applied TTM, targeting range 36-37 ℃. Her condition improved rapidly, vital signs stabilized consciousness fully regained by day 3. She experienced bimodal pattern rhabdomyolysis during recovery, which was managed without further complications. No...
Objectives: The purpose of this study was to report the effectiveness Korean medicine in treatment chronic migraine persisting for 30 years. This patient had been taking various painkillers (acetaminophen, nonsteroidal anti-inflammatory drugs, caffeine hydrate, etc.) every day years.Methods: with treated acupuncture. Acupuncture performed on gall bladder meridian (足少陽膽經) and (足太陽膀胱經) line passing through 24 31 injection sites used prevention botulinum toxin type A. severity symptom assessed...
Tuberous sclerosis is not as rare once thought and has high psychiatric comorbidities. However, bipolar or psychotic features associated with tuberous have been rarely reported. This report first presents a patient, resembling schizoaffective disorder of type. A patient known displayed mood fluctuation features. Her symptoms did remit along several medications. After hospitalization, the responded well lamotrigine aripiprazole without exacerbation. As demonstrated in this case, may also...