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Short Course and Early Switch of Vigabatrin for Infantile spasms

Ryu HW, Kim H, Lim BC, Hwang H, Chae JH, Choi JE, Kim KJ

Purpose: Vigabatrin has proven efficacy in the treatment of infantile spasms, but it carries the risk of irreversible visual field constriction. The incidence of vigabatrin-induced visual field constriction seems to...
Clinical Spectrum of Myelin Oligodendrocyte Glycoprotein-Immunoglobulin G-Associated Disease in Korean Children

Yoo IH, Kim W, Shim Y, Choi SA, Kim SY, Kim H, Lim BC, Hwang H, Choi J, Kim KJ, Kim Y, Hyun JW, Kim SH, Choi K, Kim HJ, Chae JH

Background and Purpose: The myelin oligodendrocyte glycoprotein (MOG) antibody is detected at a high rate in childhood acquired demyelinating syndrome (ADS). This study aimed to determine the diagnostic value of...
Shprintzen–Goldberg syndrome with a novel missense mutation of SKI in a 6-month-old boy

Jeon MJ, Park SG, Kim MJ, Lim BC, Kim KJ, Chae JH, Kim SY

The Shprintzen–Goldberg syndrome (SGS) is an extremely rare genetic disorder caused by heterozygous variant in SKI . SGS is characterized by neurodevelopmental impairment with skeletal anomaly. Recognition of SGS is...
Recurrent Coronary Artery Vasospasm in a Patient with Hepatocellular Carcinoma Treated with Sorafenib: a Case Report and Literature Review

Lim DH, Yoon JH, Jun DW, Lee OY, Yoon BC, Lee HR, Kim KS, Choi HS

Tyrosine kinase inhibitors are widely used as targeted treatments for various malignancies. Sorafenib is an orally active tyrosine kinase inhibitor that blocks the signaling pathways of several growth factors. Its...
Deep Phenotyping in 1p36 Deletion Syndrome

Shim Y, Go YJ, Kim SY, Kim H, Hwang H, Choi J, Lim BC, Kim KJ, Chae JH

Purpose: Although 1p36 deletion syndrome is the most common terminal deletion syndrome, unexplained phenotypic variability still occurs. We aimed to delineate the phenotype of this syndrome in detail and to...
The Efficacy and Safety of Rituximab for the Treatment of Pediatric Autoimmune Neuroinflammatory Disorders at a Single Center

Ko YJ, Shim YK, Kim WJ, Kim SY, Kim H, Hwang H, Chae JH, Choi JE, Kim KJ, Lim BC

Purpose: Rituximab is increasingly used as a second-line treatment of neuroinflammatory disorders to improve clinical outcomes in cases refractory to conventional immunotherapy and to reduce relapses. This study aimed to...
Erratum to: Elevated Serum Uric Acid in Benign Convulsions with Mild Gastroenteritis in Children

Yoo IH, Kim W, Cho J, Kim H, Lim BC, Hwang H, Chae JH, Choi J, Kim KJ

Unfortunately, the authors confirmed that some of the data was missing from categories ‘Acute gastroenteritis’ and ‘Febrile seizure’ of Table 2 in the original version.
Individual-Level Lesion-Network Mapping to Visualize the Effects of a Stroke Lesion on the Brain Network: Connectograms in Stroke Syndromes

Lim JS, Lee JJ, Woo CW, Song J, Oh MS, Yu KH, Lee BC

BACKGROUND AND PURPOSE: Similar-sized stroke lesions at similar locations can have different prognoses in clinical practice. Lesion-network mapping elucidates network-level effects of lesions that cause specific neurologic symptoms and signs,...
Clinical and Genetic Spectrum of ATP1A3-Related Disorders in a Korean Pediatric Population

Kim WJ, Shim YK, Choi SA, Kim SY, Kim H, Hwang H, Choi J, Kim KJ, Chae JH, Lim BC

BACKGROUND AND PURPOSE: The aim of this study was to expand the understanding of the genotype-phenotype spectrum of ATP1A3-related disorders and to evaluate the therapeutic effect of a ketogenic diet...
Circulating Tumor Cell Number Is Associated with Primary Tumor Volume in Patients with Lung Adenocarcinoma

Kang BJ, Ra SW, Lee K, Lim S, Son SH, Ahn JJ, Kim BC

BACKGROUND: Circulating tumor cells (CTCs) are frequently detected in patients with advanced-stage malignant tumors and could act as a predictor of poor prognosis. However, there is a paucity of data...
Osmotic Demyelination Syndrome Presenting with Emotional Incontinence

Lee YK, Gwak BC, Lim JH, Park KW

No abstract available.
A Case of Familial Spondyloenchondrodysplasia with Immune Dysregulation Masquerading as Moyamoya Syndrome

Lee JS, Lim BC, Kim KJ, Kim SK, Kim OH, Kim JG, Park SG, Cho TJ, Chae JH

No abstract available.
Association of Tumor Necrosis Factor-α Gene Promotor Variant, Not Interleukin-10, with Febrile Seizures and Genetic Epilepsy with Febrile Seizure Plus

Choi J, Choi SA, Kim SY, Kim H, Lim BC, Hwang H, Chae JH, Kim KJ, Oh S, Shin JS

PURPOSE: Cytokines demonstrate active roles in the occurrence of febrile seizures (FS). However, whether a genetic predisposition to inflammation is implicated in FS, febrile seizure plus (FS+) or genetic epilepsy...
Association of Tumor Necrosis Factor-α Gene Promotor Variant, Not Interleukin-10, with Febrile Seizures and Genetic Epilepsy with Febrile Seizure Plus

Choi J, Choi SA, Kim SY, Kim H, Lim BC, Hwang H, Chae JH, Kim KJ, Oh S, Shin JS

PURPOSE: Cytokines demonstrate active roles in the occurrence of febrile seizures (FS). However, whether a genetic predisposition to inflammation is implicated in FS, febrile seizure plus (FS+) or genetic epilepsy...
Incomplete Form of Shone Complex in an Adult Congenital Heart Disease Patient

Shih BC, Lim JH, Min J, Kim ER, Kwak JG, Kim WH

Shone complex is a rare congenital disorder that involves 4 obstructive lesions of the left heart, as follows: parachute mitral valve, supravalvular mitral ring, subaortic stenosis, and coarctation of the...
A familial case of limb-girdle muscular dystrophy with CAV3 mutation

Lee S, Jang S, Shim Y, Kim WJ, Kim SY, Cho A, Kim H, Kim JI, Lim BC, Hwang H, Choi J, Kim KJ, Chae JH

Limb-girdle muscular dystrophy (LGMD) is a group of muscular dystrophies that has extremely heterogeneous clinical features and genetic background. The caveolin-3 gene (CAV3) is one of the causative genes. LGMD...
Clinical and genetic characteristics of Korean patients with IARS2-related disorders

Lee JS, Kim MJ, Kim SY, Lim BC, Kim KJ, Choi M, Seong MW, Chae JH

PURPOSE: Genetic defects in the nuclear-encoded mitochondrial aminoacyl-tRNA synthetases were first identified as causes of various disorders in 2007. Variants in IARS2, which encodes a mitochondrial isoleucyl-tRNA synthetase, were first...
Endogenous Endophthalmitis by Hypervirulent Klebsiella Pneumoniae Invasive Syndrome

Park BC, Lim HR, Shin MH

PURPOSE: To report a case of endogenous endophthalmitis with an elbow abscess spread from a liver abscess in a patient with hypervirulent Klebsiella pneumoniae (hvKP) invasive syndrome. CASE SUMMARY: A 33-year-old...
Diagnostic Challenges Associated with GLUT1 Deficiency: Phenotypic Variabilities and Evolving Clinical Features

Kim H, Lee JS, Lee Y, Kim SY, Lim BC, Kim KJ, Choi M, Chae JH

GLUT1 deficiency is a rare neurometabolic disorder that can be effectively treated with ketogenic diet. However, this condition is underdiagnosed due to its nonspecific, overlapping, and evolving symptoms with age....
Association Analysis of Interleukin-1β, Interleukin-6, and HMGB1 Variants with Postictal Serum Cytokine Levels in Children with Febrile Seizure and Generalized Epilepsy with Febrile Seizure Plus

Choi J, Choi SA, Kim SY, Kim H, Lim BC, Hwang H, Chae JH, Kim KJ, Oh S, Kim EY, Shin JS

BACKGROUND AND PURPOSE: Febrile seizure (FS) is a unique type of seizure that only occurs during childhood. Genelized epilepsy with febrile seizure plus (GEFS+) is a familial epilepsy syndrome associated...

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