1.Exome Chip Analysis of 14,026 Koreans Reveals Known and Newly Discovered Genetic Loci Associated with Type 2 Diabetes Mellitus
Seong Beom CHO ; Jin Hwa JANG ; Myung Guen CHUNG ; Sang Cheol KIM
Diabetes & Metabolism Journal 2021;45(2):231-240
Most loci associated with type 2 diabetes mellitus (T2DM) discovered to date are within noncoding regions of unknown functional significance. By contrast, exonic regions have advantages for biological interpretation. We analyzed the association of exome array data from 14,026 Koreans to identify susceptible exonic loci for T2DM. We used genotype information of 50,543 variants using the Illumina exome array platform. In total, 7 loci were significant with a Bonferroni adjusted We found exonic loci having a susceptibility for T2DM. We found that such genetic information is advantageous for predicting T2DM in a subgroup of obese individuals.
2.Exome Chip Analysis of 14,026 Koreans Reveals Known and Newly Discovered Genetic Loci Associated with Type 2 Diabetes Mellitus
Seong Beom CHO ; Jin Hwa JANG ; Myung Guen CHUNG ; Sang Cheol KIM
Diabetes & Metabolism Journal 2021;45(2):231-240
Most loci associated with type 2 diabetes mellitus (T2DM) discovered to date are within noncoding regions of unknown functional significance. By contrast, exonic regions have advantages for biological interpretation. We analyzed the association of exome array data from 14,026 Koreans to identify susceptible exonic loci for T2DM. We used genotype information of 50,543 variants using the Illumina exome array platform. In total, 7 loci were significant with a Bonferroni adjusted We found exonic loci having a susceptibility for T2DM. We found that such genetic information is advantageous for predicting T2DM in a subgroup of obese individuals.
3.Neuromyelitis Optica Spectrum Disorder Presenting with Pseudoathetosis
Hung Youl SEOK ; Seong Hwa JANG ; Sooyeoun YOU
Journal of Clinical Neurology 2018;14(1):123-125
No abstract available.
Neuromyelitis Optica
4.Steroid Non-responsive Hashimoto's Encephalopathy Improved by Rituximab
Seong Hwa JANG ; Hye Jin MOON ; Yong Won CHO
Journal of the Korean Neurological Association 2018;36(1):19-21
Hashimoto's encephalopathy is a rare autoimmune disease, with symptoms of encephalopathy and high titers of serum anti-thyroid antibodies. Current diagnostic criteria include corticosteroid responsiveness, but in some cases, they are refractory to corticosteroids. In steroid non-responders, other immunomodulatory therapies could be applied. Recently, Rituximab is reported as a safe and effective treatment for Hashimoto's encephalopathy. We report a 50-year-old woman with Hashimoto's encephalopathy presented with confusion and catatonia who was refractory to corticosteroid and immunoglobulin but effectively treated with rituximab.
Adrenal Cortex Hormones
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Antibodies
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Autoimmune Diseases
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Brain Diseases
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Catatonia
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Female
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Glucocorticoids
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Humans
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Immunoglobulins
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Immunomodulation
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Middle Aged
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Rituximab
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Thyroid Hormones
5.A Case Report on the Dermoscopic Features of Spark’s Nevus
Jong Bin PARK ; Seol Hwa SEONG ; Ji Yun JANG ; Myeong Hyeon YANG ; Kee Suck SUH ; Min Soo JANG
Annals of Dermatology 2020;32(3):233-236
Spark’s nevus is a compound word composed of Spitz nevus and Clark’s nevus. It is one of the combined melanocytic nevi which is more common in female and usually presents as a sharp circumscribed hyperpigmented macule on the lower extremities. On histopathologic findings, both cytologic features of Spitz nevus characterized as large spindle or epithelioid melanocytes containing large nuclei with abundant cytoplasm, and architecture of Clark’s nevus characterized as elongation of rete ridges, bridging of the nests, concentric and lamellar fibrosis can be seen. A 24-year-old female presented with an asymptomatic, solitary, dark-brown-colored papule surrounded by brownish patch that looked similar to dysplastic nevus or malignant melanoma on the buttock. On dermoscopic examination, it showed brown-to-black globules, diffuse homogenous pigmentation with blue-white structures, and a surrounding brownish reticular pattern that faded away. On histopathologic findings, overall asymmetrical structure, epithelioid large melanocytes containing large nuclei with abundant cytoplasm, and Kamino body were seen in the central portion. Also, lentiginous hyperplasia, bridging of the nests composed of melanocytes containing foamy cytoplasm, concentric and lamellar fibrosis along with the elongation of rete ridge, and perivascular lymphocytic infiltration were seen in the peripheral portion. The diagnosis of Spark’s nevus was made. Following its definition, this combined nevus is diagnosed histopathologically, but the clinicodermoscopic features have not been well described. Herein, we report a case of Spark’s nevus in which dermoscopy was helpful for differentiating it from malignant melanoma.
6.Effects of 5-Hydroxytryptamine on Potassium Currents of the Medial Vestibular Nuclear Neuron in the Rat.
Han Seong JEONG ; Sun Hwa CHA ; Myung Joo JANG ; Yong Bum CHO ; Jae Yeoul JUN ; Jong Seong PARK
Korean Journal of Otolaryngology - Head and Neck Surgery 2003;46(11):915-921
BACKGROUND AND OBJECTIVES: This study was aimed to explore the effects of the 5-hydroxytryptamine (5-HT) on potassium currents in rat vestibular nuclear neurons. MATERIALS AND METHOD: Sprague-Dawley rats aged 14 to 16 days were anesthetized with ether and decapitated. After enzymatic digestion, the portion of medial vestibular nucleus neuron was removed by micropunching and gently agitated. The dissociated neurons were transferred into a recording chamber mounted on an inverted microscope and whole-cell membrane currents were recorded at room temperature by using standard patch-clamp techniques. RESULTS: When cells were held at -70 mV and depolarized from -60 mV to +40 mV in 10 mV increments, sustained outward potassium currents were evoked. The response of medial vestibular nuclear neurons to 5-HT was not uniform. The outward potassium currents were increased in 17 of 40 cells and decreased in 23 of 40 cells. 5-carboxamidotryptamine, 5-HT1 agonist increased the outward potassium currents of the medial vestibular nuclear cell. alpha-methyl-5-hydroxytryptamine, 5-HT2 agonist decreased the outward potassium currents of the medial vestibular nuclear cell. CONCLUSION: These results suggest that 5-HT affects the potassium currents of the cell with different effects according to the receptor subtype on which it acts.
Animals
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Digestion
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Dihydroergotamine
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Ether
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Membranes
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Neurons*
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Patch-Clamp Techniques
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Potassium Channels
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Potassium*
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Rats*
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Rats, Sprague-Dawley
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Serotonin 5-HT1 Receptor Agonists
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Serotonin 5-HT2 Receptor Agonists
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Serotonin*
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Vestibular Nuclei
7.Dermoscopic features of an unusual case of targetoid hemosiderotic nevus
Sun Mun JEONG ; Jang Hwan JUNG ; Do Ik KWON ; Seol Hwa SEONG ; Ji Yun JANG ; Jong Bin PARK ; Min Soo JANG
Kosin Medical Journal 2023;38(3):215-218
Targetoid hemosiderotic nevus (THN) is a rare variant of melanocytic nevus, characterized by a sudden development of a targetoid ecchymotic halo around a pre-existing nevus. THN clinically raises concern for malignant transformation due to its abrupt change in color and size. THN should be distinguished from other diseases showing a peripheral halo, including targetoid hemosiderotic hemangioma, halo nevus, and Meyerson nevus. Dermoscopy can help clinicians to differentiate THN from these diseases. The typical dermoscopic features of THN are known to be divided into two distinctive areas: the central melanocytic area and the peripheral ecchymotic area. In our case, dermoscopy revealed a novel bull’s eye pattern composed of a central area with characteristic features of benign melanocytic nevus, an intermediated white circular ring, and a peripheral milky red area. When a sudden change occurs in a pre-existing nodule showing targetoid features, dermoscopy should be considered before conducting a biopsy or surgical intervention.
8.Comparing esthetic smile perceptions among laypersons with and without orthodontic treatment experience and dentists.
Seong Mu AN ; Sun Young CHOI ; Young Wook CHUNG ; Tae Ho JANG ; Kyung Hwa KANG
The Korean Journal of Orthodontics 2014;44(6):294-303
OBJECTIVE: The purpose of this study was to examine whether orthodontic treatment experience affects the individual's perception of smile esthetics and to evaluate differences among orthodontically treated laypersons, non-treated laypersons, and dentists by using computerized image alterations. METHODS: A photograph of a woman's smile was digitally altered using a software image editing program. The alterations involved gingival margin height, crown width and length, incisal plane canting, and dental midline of the maxillary anterior teeth. Three groups of raters (orthodontically treated laypersons, non-treated laypersons, and dentists) evaluated the original and altered images using a visual analog scale. RESULTS: The threshold for detecting changes in maxillary central incisor gingival margin height among laypersons was 1.5 mm; the threshold of dentists, who were more perceptive, was 1.0 mm. For maxillary lateral incisor crown width and height, the threshold of all three groups was 3.0 mm. Canting of the incisal plane was perceived when the canting was 3.0 mm among non-treated laypersons, 2.0 mm among treated laypersons, and 1.0 mm among dentists. Non-treated laypersons could not perceive dental midline shifts; however, treated laypersons and dentists perceived them when the shift was > or = 3.0 mm. CONCLUSIONS: Laypersons with and without orthodontic treatment experience and dentists have different perceptions of smile esthetics. Orthodontically treated laypersons were more critical than non-treated laypersons regarding incisal plane canting and dental midline shifts. Based on these findings, it is suggested that orthodontic treatment experience improved the esthetic perceptions of laypersons.
Crowns
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Dentists*
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Esthetics
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Humans
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Incisor
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Photography
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Tooth
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Visual Analog Scale
9.A Case of Cervical Ganglioneuroma: Case Report.
Tae Ok KHO ; Geun Seong SONG ; Chang Hwa CHOI ; Byoung Jo JANG ; Young Woo LEE
Journal of Korean Neurosurgical Society 1990;19(5):735-739
Ganglionneuroma is slow-growing benign neoplasm that orignates from the sympathetic nervous system. A case of dumb-bell shaped Ganglionneuroma at first and second cervical areas is presented on this paper with chief complaint of neck pain and quadriparesis. The tumor was totally removed under operating microscope and the diagnosis was pathohistologically confirmed. The postoperative result was good and relative literatures were reviewed.
Diagnosis
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Ganglioneuroma*
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Neck Pain
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Quadriplegia
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Sympathetic Nervous System
10.Cervicothoracic Extradural Ganglionneuroblastoma Invaded from Mediastinum.
Won Ho PARK ; Geun Seong SONG ; Chang Hwa CHOI ; Byoung Jo JANG ; Young Woo LEE
Journal of Korean Neurosurgical Society 1990;19(5):730-734
Ganglionneuroblastoma is a rare neoplasm involving central nervous system. We have recently experienced a case of cervicothoracic extradural ganglionneuroblastoma invaded from upper posterior mediastinum. The patient presented with a progressive weakness of both lower extremities and had difficulty in voiding. The plain X-ray films, thoracic spine CT scan and myelography disclosed an extradural mass from C6 to T4 level. This extradural mass was communicated with upper posterior mediastinum. The mass was surgically removed and then the patient showed good recovery postoperatively.
Central Nervous System
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Humans
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Lower Extremity
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Mediastinum*
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Myelography
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Spine
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Tomography, X-Ray Computed
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X-Ray Film