Genetic and Imaging Characteristics of a Family With Neuronal Intranuclear Inclusion Disease

정나연,이현정,Takeshi Mizuguchi,Naomichi Matsumoto 대한신경과학회 2022 Journal of Clinical Neurology Vol.18 No.3

O2O 꽃배달 플랫폼 품질이 지각된 가치와 신뢰, 만족과 지속의도에 미치는 영향

정나연,이준엽 한국이벤트컨벤션학회 2022 이벤트 컨벤션 연구 Vol.18 No.4

Purpose – The purpose of this study was to identify the rapidly increasing quality and usage behavior of the O2O flower delivery platform due to technological development and COVID-19, identify the perceived value and trust, identify the structural relationship between the factors, and provide basic data for successful operation of flower-related companies. Design, data, and methodology –The survey was conducted on online and SNS using Google Docs for about 15 days from October 15 to October 30, 2021 to those who have experienced O2O flower delivery platform. Result – As a result of verifying a total of 6 hypotheses and the lower 19 hypotheses, a statistically significant influence relationship was found in all hypothesis paths except for the 4 lower hypotheses. Conclusions – O2O flower delivery platform quality was found to be an important variable that had a positive effect on perceived value and trust, and O2O flower delivery platform quality was found to have an effect on satisfaction and continuous use behavior through perceived value and trust.

전두측두엽변성-TDP C형으로 확진된의미변이원발진행실어증

정나연,이명준,이재혁,신진홍,이영민,신명준,박경준,황청수,안재우,성 석,최경운,허기영,김은주 대한신경과학회 2018 대한신경과학회지 Vol.36 No.1

A 62-year-old man presented with a one-year history of word finding difficulty, impaired single word comprehension and personality changes including aggression, apathy and eating change. Brain MRIs showed severe atrophy in the left anterior temporal lobe. The clinical syndromic diagnosis was semantic variant primary progressive aphasia. He died at age 70 of pneumonia. At autopsy, transactive response DNA-binding protein (TDP) immunoreactive long dystrophic neurites were predominantly found in the cerebral cortices, which were compatible with frontotemporal lobar degeneration-TDP type C pathology.

전이성 뇌종양과 닮은 고무종성 신경매독

정나연,안보영,정대수,박규현,김은주 대한신경과학회 2010 대한신경과학회지 Vol.28 No.2

Anti-Yo-associated autoimmune encephalitis after colon cancer treatment

정나연,Woo Kyoung-Nam,조재욱,Kim Hyun-Woo 대한신경집중치료학회 2020 대한신경집중치료학회지 Vol.13 No.2

Background: Anti-Yo antibodies are classically associated with paraneoplastic cerebellar degeneration in ovarian and breast cancers and are rarely seen in colon cancer. Anti-Yo-associated paraneoplastic autoimmune encephalitis in colon cancer is rare. Case Report: A 66-year-old man presented with new-onset seizures after completion of a scheduled treatment for colon cancer. Magnetic resonance imaging showed hyperintense signals with enhancement in the left temporal lobe and insular cortex. Cerebrospinal fluid findings included pleocytosis and elevated protein levels, while Yo antibodies were detected in the serum. There was no relapse of colon cancer, nor were any new cancers found. The patient’s symptoms and laboratory test results improved after the administration of high-dose steroids, intravenous immunoglobulin, and plasmapheresis with antiepileptic drugs. Conclusion: This is a rare case of autoimmune encephalitis with anti-Yo antibodies. The appearance of new-onset seizures during the treatment of malignancy should raise suspicions for paraneoplastic autoimmune encephalitis, even after surgery and chemotherapy are completed.

울트라 큐 레이저를 이용한 비문증 치료의 단기 임상결과와 안전성

정나연,문지선,배지현,신승주 대한안과학회 2015 대한안과학회지 Vol.56 No.6

목적: 비문증 치료를 위해 고안된 Ultra Q neodymium-doped yttrium aluminium garnet (Nd:YAG) 레이저의 단기 임상결과와 안전성에 대해 알아보고자 하였다. 대상과 방법: 3개월 이상 지속적으로 비문증을 호소하는 환자 31명 31안을 대상으로 Ultra Q Nd:YAG 레이저를 이용하여 비문에 레이저 광을 조사하여 분쇄하였고, 전향적으로 시술 전과 후의 최대교정시력, 안압, 시술 후 비문의 변화 및 만족도와 합병증 발생 여부를 알아보았다. 결과: 총 31안에서 치료 전과 후의 최대교정시력과 안압의 유의한 변화는 없었다(p>0.05). 시술 후 안저검사상 9안(29.03%)에서는 거의 비문이 남아있지 않았으며, 19안(61.29%)에서는 비문이 관찰되나 시술 전보다 그 크기와 수가 줄어 있었고, 나머지 3안(9.68%)에서는 시술 전과 비교하여 비문의 크기가 확연하게 줄지 않았다. 시술 후 만족도는 11안(35.48%)에서 매우 만족, 나머지 20안(64.58%)에서도 모두 만족을 나타내었다. 비문의 형태별로 시술 후 환자의 만족도를 보면 weiss 고리 형태의 비문에서 매우 만족이 8안 중 6안(75%)으로 가장 높았으며, 시술 후 안저검사상 거의 비문이 남아있지 않았던 경우도 8안 중 7안(87.50%)이었다. 시술 후 합병증은3개월의 추적관찰 기간 동안 모두에서 발생하지 않았다. 결론: Ultra Q Nd:YAG 레이저를 이용한 비문증의 치료는 수 개월 이상 지속된, 일상에 불편감을 초래하는 비문증을 보다 적극적으로 치료하는 데 도움이 될 수 있을 것으로 생각된다. Purpose: To evaluate the short-term clinical results and safety of Ultra Q neodymium-doped yttrium aluminium garnet (Nd:YAG)laser treatment for vitreous floaters. Methods: The present study included 31 eyes of 31 patients with symptomatic floaters lasting more than 3 months. The vitreous floaters were photodisrupted using Ultra Q Nd:YAG laser. Preoperative and postoperative best corrected visual activity (BCVA) and intraocular pressure, change of the floater, patient satisfaction and postoperative complications were analyzed prospectively. Results: There was no significant difference between preoperative and postoperative BCVA and intraocular pressure (p > 0.05).Vitreous floaters were not found in 9 eyes (29.03%), decreased floaters were observed in 19 eyes (61.29%) and definite change of floaters was not observed in 3 eyes (9.68%). Patient satisfaction after the laser treatment was very satisfied in 11 eyes(35.48%) and satisfied in 20 eyes (64.58%). Satisfaction in Weiss ring type of the floater was the highest, very satisfied in 6 of the 8 eyes (75%) and vitreous floaters were not observed in 7 of the 8 eyes (87.50%). Postoperative complications were not observed during a follow-up period of at least 3 months. Conclusions: Ultra Q Nd:YAG laser was an effective and safe treatment for the vitreous floaters in this short-term study.

Mild Clinical Features and Histopathologically Atypical Cores in Two Korean Families with Central Core Disease Harboring RYR1 Mutations at the C-Terminal Region

정나연,박영은,신진홍,이창훈,정대수,김대성 대한신경과학회 2015 Journal of Clinical Neurology Vol.11 No.1

Background Central core disease (CCD) is a congenital myopathy characterized by distinctive cores in muscle fibers. Mutations in the gene encoding ryanodine receptor 1 (RYR1) havebeen identified in most CCD patients. Case Report Two unrelated patients presented with slowly progressive or nonprogressiveproximal muscle weakness since childhood. Their family history revealed some members withthe same clinical problem. Histological analysis of muscle biopsy samples revealed numerous peripheral cores in the muscle fibers. RYR1 sequence analysis disclosed a novel mutation in exon101 (c.14590T>C) and confirmed a previously reported mutation in exon 102 (c.14678G>A). Conclusions We report herein two families with CCD in whom missense mutations at the Cterminal of RYR1 were identified. Although it has been accepted that such mutations are usuallyassociated with a severe clinical phenotype and clearly demarcated central cores, our patientsexhibited a mild clinical phenotype without facial muscle involvement and skeletal deformities,and atypical cores in their muscle biopsy specimens.

건성안 환자에서 빛간섭단층촬영을 이용한 눈물띠 분석

정나연,백지원,신승주,정성근 대한안과학회 2015 대한안과학회지 Vol.56 No.3

목적: 눈물생성부족 건성안에서 푸리에도메인 빛간섭단층촬영(Fourier-domain OCT, FD-OCT)을 이용한 눈물띠 분석을 시행하여 쉬르머검사, 눈물막 파괴시간 및 플루오레신 각막염색과의 상관관계를 알아보고 임상적 유용성을 확인하고자 하였다. 대상과 방법: 눈물생성부족 건성안 79안과 정상 대조군 50안에서 FD-OCT를 이용하여 눈물띠의 높이(tear meniscus height, TMH),깊이(tear meniscus depth, TMD), 넓이(tear meniscus area, TMA)를 측정하고, 쉬르머검사, 눈물막 파괴시간, 플루오레신 각막염색을 시행하여 각 검사 간 상관관계를 비교 분석하고, area under the receiver operating characteristic curve (AUROC)를 평가하였다. 결과: 눈물띠 변수들은 눈물생성부족 건성안에서 정상 대조군에 비해 모두 유의하게 감소되었다(p<0.05). 눈물생성부족 건성안에서 TMH, TMD, TMA는 쉬르머검사 및 눈물막 파괴시간과 양의 상관관계를 보였고(p<0.05), TMH, TMD는 각막염색점수와 음의 상관관계를 보였다(p<0.05). TMH, TMD, TMA의 AUROC는 각각 0.978, 0.788, 0.957로 TMH가 가장 넓었다. 결론: 눈물생성부족 건성안에서 FD-OCT로 측정한 눈물띠의 양은 정상 대조군에 비해 감소되어 있고 쉬르머검사, 눈물막 파괴시간및 플루오레신 각막염색점수와 상관관계를 나타내며 높은 진단력을 보여 눈물생성부족 건성안 환자의 진단 및 치료에 유용하게 사용될 것으로 기대한다. Purpose: To evaluate the tear meniscus in aqueous tear-deficient dry eye patients using Fourier-domain optical coherence tomography(FD-OCT) and to investigate the clinical usefulness of tear meniscus values. Methods: The present study included 79 aqueous tear-deficient dry eyes and 50 normal eyes. Tear meniscus height(TMH), tear meniscus depth (TMD), and tear meniscus area (TMA) were imaged using FD-OCT and measured with computer calipers. Schirmer’s test, tear break-up time, and corneal fluorescein staining were also performed and the correlations between the tests were analyzed. Additionally, the diagnostic power of tear meniscus values was compared using area under the receiver operating characteristic curve (AUROC). Results: Tear meniscus values were significantly decreased in the aqueous tear-deficient dry eye group (p < 0.05). TMH, TMD,and TMA were positively correlated with Schirmer’s test and tear break-up time (p < 0.05), and TMH and TMD were negatively correlated with corneal fluorescein staining in the aqueous tear-deficient dry eye group (p < 0.05). The AUROCs of TMH, TMD,and TMA were 0.978, 0.788, and 0.957, respectively. Conclusions: Tear meniscus values measured using FD-OCT were significantly lower in aqueous tear-deficient dry eyes and were correlated with Schirmer’s test, tear break-up time, and corneal fluorescein staining. Tear meniscus measurements obtained using FD-OCT can be useful clinical parameters for the diagnosis and treatment of aqueous tear-deficient dry eye.

공동주택 건설현장 안전관리를 위한 공종분류체계 및 위험요인 연계

정나연(Jeong, Na-Yeon),천유진(Cheon, Yu-Jin),성소정(Seong, So-Jeong),김별(Kim, Byeol),안용한(Ahn, Yong-Han) 대한건축학회 2023 대한건축학회 학술발표대회 논문집 Vol.43 No.2

고농도면역글로불린정맥주사 치료에 무반응을 보인 허탈발작을 동반한 만발성 기면병

조재욱,정나연,배진원,김대진,이재혁,타카시 칸바야시 대한신경과학회 2012 대한신경과학회지 Vol.30 No.1

Narcolepsy with cataplexy (NC) is associated with hypocretin deficiency, and is thought to be an autoimmunity condition. The mean age at onset is estimated to be in the early 20s. Recent papers have addressed the response to immunotherapies in NC, with challenging results. We report a case of late-onset NC in a patient who did not benefit from early intravenous high-dose immunoglobulin (IVIg) therapy. This is the first reported attempt at using IVIg to treat an NC patient in Korea.