변정혜 교수

BACKGROUND AND PURPOSE: Febrile seizures (FS) are the most common type of seizure during childhood, reportedly occurring in 2-5% of children aged 6 months to 5 years. However, there are no national data on the prevalence of FS in Korea. This study determined the prevalence, incidence, and recurrence rates of FS in Korean children using national registry data. METHODS: The data were collected from the Korea National Health Insurance Review and Assessment Service for 2009-2013. Patients with febri

The average age at menarche in Korean girls was 12.6 years, thus younger than in the past. Most teenage girls experienced dysmenorrhea and premenstrual syndrome, but few consulted a doctor. Organized treatment plans are required to manage menstrual problems in teenage girls.

PURPOSE: Febrile seizure, the most common type of pediatric convulsive disorder, is a benign seizure syndrome distinct from epilepsy. However, as epilepsy is also common during childhood, we aimed to identify the prognostic factors that can predict epilepsy in children with febrile seizures. METHODS: The study comprised 249 children at the Korea University Ansan Hospital who presented with febrile seizures. The relationship between the subsequent occurrence of epilepsy and clinical factors inclu

INTRODUCTION: Duchenne and Becker muscular dystrophies (DMD and BMD) are allelic X-linked recessive muscle diseases caused by mutations in the large and complex dystrophin gene. METHODS: We analyzed the dystrophin gene in 507 Korean DMD/BMD patients by multiple ligation-dependent probe amplification and direct sequencing. RESULTS: Overall, 117 different deletions, 48 duplications, and 90 pathogenic sequence variations, including 30 novel variations, were identified. Deletions and duplications ac

BACKGROUND: The diagnostic yield of whole-exome sequencing (WES) varies from 30%-50% among patients with mild to severe neurodevelopmental delay (NDD)/intellectual disability (ID). Routine retrospective reanalysis of undiagnosed patients has increased the total diagnostic yield by 10-15%. Here, we performed proband-only WES of 1065 patients with NDD/ID and applied a prospective, daily reanalysis automated pipeline to patients without clinically significant variants to facilitate diagnoses. METHO

We observed a differential association between mold and other aeroallergen sensitization, and severity of asthma. Sensitization to mold is associated with lower lung function and increased airway hyper-responsiveness in children with asthma. Mold sensitization could be an important factor determining asthma severity particularly airflow limitation in children.

Evidence of the importance of early childhood development (ECD) has transformed child health monitoring and screening tools. Development of the Korean Developmental Screening Test for Infants and Children (K-DST) has expanded the applications of child health screening to a large number of infants and children in Korea and is contributing to the early detection of neurodevelopmental disorders and delivery of timely interventions. The previous screening tool (Korean Ages and Stages Questionnaire)

Background: Atopic dermatitis (AD) is chronic pruritic inflammatory skin disease in children. Interleukin (IL) 31 is a recently discovered cytokine associated with chronic skin inflammation and pruritus. Objectives: The aims of this study were to determine whether serum IL-31 levels are increased in children with AD and to examine the relationship between IL-31 and other clinical biomarkers in AD. Methods: Serum cytokine levels, including IL-31, IL-4, and IL-12, were measured in 38 patients with

AIM: To determine whether nasopharyngeal aspirates (NPAs) cytokine response is different according to the causative viruses in children with lower respiratory tract infections (LRTI). METHODS: NPAs from 277 children with LRTI caused by respiratory virus were evaluated. Based on the proven viral agents, LRTI patients were divided into four groups. Levels of IL-4, IL-5 and IFN-gamma were determined by ELISA. RESULTS: Patients with influenza virus infection demonstrated significantly lower IL-4 and

OBJECTIVE: Perinatal hypoxic-ischemic encephalopathy (HIE) and prolonged febrile seizures (pFS) are common neurologic problems that occur during childhood. However, there is insufficient evidence from experimental studies to conclude that pFS directly induces hippocampal injury. We studied cognitive function and histological changes in a rat model and investigated which among pFS, HIE, or a dual pathologic effect is most detrimental to the health of children. METHODS: A rat model of HIE at postn