A5103029495- Pharmacological Effects and Toxicity Studies
- Epilepsy research and treatment
- Metabolism and Genetic Disorders
- Neonatal and fetal brain pathology
- Peripheral Neuropathies and Disorders
- Bacterial Infections and Vaccines
- Hereditary Neurological Disorders
- Viral Infections and Immunology Research
- Respiratory viral infections research
- Diet and metabolism studies
- Complementary and Alternative Medicine Studies
- Moyamoya disease diagnosis and treatment
- Neonatal Respiratory Health Research
- Neurological Complications and Syndromes
- Neurological and metabolic disorders
- RNA Research and Splicing
- Neurogenetic and Muscular Disorders Research
- Vascular anomalies and interventions
- Infant Development and Preterm Care
- Infectious Diseases and Tuberculosis
- Cardiovascular Syncope and Autonomic Disorders
- Healthcare and Venom Research
- Infectious Encephalopathies and Encephalitis
- Vitamin D Research Studies
- Porphyrin Metabolism and Disorders
Pusan National University Yangsan Hospital
2013-2021
Pusan National University
1998-2019
Seoul National University
1995
ObjectiveaaNeurodegeneration with brain iron accumulation (NBIA) represents a group of inherited movement disorders characterized by in the basal ganglia.Recent advances have included identification new causative genes and highlighted wide phenotypic variation between within specific NBIA subtypes.This study aimed to investigate current status Korea.MethodsaaWe collected genetically confirmed patients from twelve nationwide referral hospitals review literature.We conducted describe genotypic...
Patients with neurological disorders are at high risk of developing osteoporosis, as they possess multiple factors leading to low bone mineral density. Such include inactivity, decreased exposure sunlight, poor nutrition, and the use medication or treatment that can cause lower density such antiepileptic drugs, ketogenic diet, glucocorticoids. In this article, mechanisms involved in altered health children management for patients epilepsy, cerebral palsy, Duchenne muscular dystrophy...
A 13-yr-old female was admitted to our hospital with fever, seizure, and cervical lymphadenopathy. Laboratory data showed pancytopenia, elevation of serum transaminase, lactate dehydrogenase, triglyceride, ferritin levels. Lymph node biopsy revealed features Kikuchi's disease there were signs histiocytosis hemophagocytic phenomenon in bone marrow. She recovered after treatment intravenous immunoglobulin corticosteroids therapy. Hemophagocytic syndrome can be associated especially childhood...
Background and Objectives: Chromosomal microarray (CMA) is a first-tier genetic test for children with developmental delay (DD), intellectual disability (ID), autism spectrum disorders (ASDs), multiple congenital anomalies (MCA). In this study, we report our experiences the use of CMA in Korean unexplained DD/ID. Methods: We performed cohort 308 DD/ID between January 2010 September 2020. also retrospectively reviewed their medical records. The Affymetrix CytoScan 750 K array an average...
Lack of cerebrospinal fluid (CSF) pleocytosis has been reported in some children with enteroviral meningitis (EVM). The aim this paper was to investigate the clinical spectrum and related factors EVM CSF non-pleocytosis.The databases diagnosed on polymerase chain reaction between 2011 2014 were retrospectively reviewed. defined at each age using criteria. Clinical laboratory variables compared patients non-pleocytosis.Of 802 EVM, 25.4% (204/802) had non-pleocytosis. In particular,...
In viral meningitis, proinflammatory cytokines were detected at higher levels in the cerebrospinal fluid (CSF) and might play an important role inflammatory process. Our goal was to compare cytokine profiles CSF of children enteroviral meningitis (EVM) with versus without pleocytosis. total, 158 patients enrolled this prospective cohort study classified as EVM (group-A, n = 101), nonenteroviral aseptic (group-B, 27), control (group-C, 30) groups. Of 101 EVM, 71 had pleocytosis (group-A1) 30...
Purpose Bell's palsy is characterized by sudden onset of unilateral facial weakness. The use corticosteroids for childhood controversial. This study aimed to identify clinical characteristics, etiology, and laboratory findings in palsy, evaluate the efficacy corticosteroid treatment. Methods We conducted a retrospective analysis children under 19 years age treated between January 2009 June 2017, followed up over 1 month. Clinical neuroimaging data, findings, treatments, outcomes were...
We report the case of a 17-year-old Korean girl with systemic lupus erythematosus (SLE) who presented sudden weakness right-sided extremities and dysarthria. Oral prednisolone was being taken to control SLE. Results clinical laboratory examinations did not show any evidence antiphospholipid syndrome or thromboembolic disease nor SLE activity. Cerebral angiography showed stenosis left internal carotid artery right anterior cerebral accompanying collateral circulation (moyamoya vessels). After...
Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a rare inherited disorder characterized by infantile-onset macrocephaly, slow neurologic deterioration, and seizures. Mutations in the causative gene, MLC1, are found approximately 75% of patients an autosomal recessive manner. We analyzed MLC1 mutations five unrelated Korean MLC.Direct Sanger sequencing was used to identify mutations. A founder effect p.Ala275Asp variant demonstrated haplotype analysis using...
Few studies have been conducted among pediatric patients to examine clinical outcomes associated with the combined use of Oriental medicine and other therapies treat epilepsy. The purpose this study was laboratory characteristics children epilepsy being treated traditional Korean (TKM) in addition their conventional antiepileptic drugs (AEDs), survey whether nonpharmacologic combination treatments were also used.The included 398 at Pediatric Neurology Clinic Pusan National University...
Background and Purpose:The aim of this study is to evaluate the prevalence hypothyroidism change thyroid hormone level in children with epilepsy on a ketogenic diet (KD). Methods:The levels serum free thyroxine (fT4) thyroid-stimulation (TSH) were measured at start KD 6-to 12-month intervals intractable epilepsy.Hypothyroidism was defined as fT4 < 0.8 ng/dL TSH > 6.0 μIU/mL. Results:A total 28 (17 boys 11 girls) enrolled study.The mean age onset seizure 1.4 ± 1.6 years, 3.2 2.4 duration 1.9...
Purpose: Guillain-Barré syndrome (GBS) is a group of clinical syndromes involving acute polyneuropathy secondary to an immune-mediated process.Although affected children generally tend have good prognosis, small subset experience residual symptoms that require lengthy and costly rehabilitation.Therefore, we aimed describe the findings with GBS investigate factors associated their outcomes.Methods: A retrospective study was conducted previously healthy ≤18 years age diagnosed admitted Pusan...
Purpose Venous angioma (VA) is the most common congenital abnormality of intracranial vasculature. This study aimed to investigate relationship between VA and epilepsy identify characteristics children with epilepsy. Methods The records all patients aged less than 18 years who underwent brain magnetic resonance imaging (MRI) at Pusan National University Hospital were retrospectively reviewed. Patients isolated normal MRI compared in terms prevalence Results In total, 2,385 pediatric...
Characteristic patterns in amplitude-integrated electroencephalography (aEEG) develop with gestational age (GA), and so can be used to evaluate brain maturation premature infants. Reference aEEG values normal preterm infants have not been identified data are scarce. We aimed validate a currently available scoring system. also investigated the development of activity during first week after birth, determining reference no abnormal cranial ultrasound findings. prospectively studied ultrasounds...
A 14-year-old boy was admitted to the authors’ hospital due episodes of intense vomiting that had been recurring for past three years. Vomiting during attacks occurred >10 times 1 h 2 h, and each episode persisted one two days. The monthly, but he recovered completely apeared healthy between episodes. No family history similar disease, migraine or epilepsy observed. During first hospitalization, his blood pressure (BP) measured multiple per day always normotensive (90/60 mmHg 100/70 mmHg),...