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1
Semiglobal Robust Stabilization of Nonlinear Systems Without Vanishing Condition

Nari Bok,Hyungbo Shim,Young I. Son,Jin H. Seo 대한전기학회 2001 KIEE International Transactions on systems and Con Vol.11D No.3
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2
Identification of a novel splicing mutation within SLC17A8 in a Korean family with hearing loss by whole-exome sequencing

Ryu, Nari,Lee, Seokwon,Park, Hong-Joon,Lee, Byeonghyeon,Kwon, Tae-Jun,Bok, Jinwoong,Park, Chan Ik,Lee, Kyu-Yup,Baek, Jeong-In,Kim, Un-Kyung Elsevier BV 2017 Gene Vol.627 No.-
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Abstract Hereditary hearing loss (HHL) is a common genetically heterogeneous disorder, which follows Mendelian inheritance in humans. Because of this heterogeneity, the identification of the causative gene of HHL by linkage analysis or Sanger sequencing have shown economic and temporal limitations. With recent advances in next-generation sequencing (NGS) techniques, rapid identification of a causative gene via massively parallel sequencing is now possible. We recruited a Korean family with three generations exhibiting autosomal dominant inheritance of hearing loss (HL), and the clinical information about this family revealed that there are no other symptoms accompanied with HL. To identify a causative mutation of HL in this family, we performed whole-exome sequencing of 4 family members, 3 affected and an unaffected. As the result, A novel splicing mutation, c.763+1G>T, in the solute carrier family 17, member 8 (SLC17A8) gene was identified in the patients, and the genotypes of the mutation were co-segregated with the phenotype of HL. Additionally, this mutation was not detected in 100 Koreans with normal hearing. Via NGS, we detected a novel splicing mutation that might influence the hearing ability within the patients with autosomal dominant non-syndromic HL. Our data suggests that this technique is a powerful tool to discover causative genetic factors of HL and facilitate diagnoses of the primary cause of HHL. Highlights <UL> <LI> NGS is a powerful method to facilitate discovery and diagnosis of causative factors in genetic hearing loss. </LI> <LI> We performed whole exome sequencing to screen the genetic cause of autosomal dominant non-syndromic hearing loss. </LI> <LI> A probably pathogenic, novel splicing mutation was found in the SLC17A8 gene. </LI> <LI> Our results provide essential information to understand hearing loss caused by a splicing mutation in the SLC17A8 gene. </LI> </UL>
3
Risk factors for delayed recanalization of calf vein thrombosis

Yang Jin Park,Kyung-Bok Lee,Dong-Ik Kim,Young-Nam Roh,Nari Kim,Duk-Kyung Kim,Young-Wook Kim 대한외과학회 2012 Annals of Surgical Treatment and Research(ASRT) Vol.82 No.5
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Purpose: To determine the risk factors of delayed recanalization of isolated calf vein thrombosis (CVT). Methods: One hundred fifty limbs of 110 patients with CVT between September 2007 and April 2010 were enrolled. We used ultrasonography for the diagnosis and follow-up examinations of CVT. We calculated recanalization rates at 1 and 3 months after initial diagnosis and analyzed the risk factors associated with delayed recanalization of CVT. Results: CVTs were located in the muscular calf vein in 110 (73.3%), in the deep calf vein in 18 (12%), and in both in 22 cases (14.7%). Among all CVTs, 94 limbs (63%) were symptomatic. Major risk factors for CVT were orthopedic surgery (87.3%), malignancy (21.3%), and immobilization (15.3%). Sixty-seven patients (60.9%) were treated with oral anticoagulation therapy, while 43 patients by low molecular weight heparin (n = 19) or by conservative methods including elastic compression stockings and ambulation (n = 21). The cumulative recanalization rate at 1 and 3 months was 23% and 82% and it was significantly higher in patients who underwent oral anticoagulation therapy compared with patients without oral anticoagulation therapy (84% vs. 65%, P = 0.008 by log-rank test). Malignancy (odds ratio [OR], 2.789; P = 0.043) and immobilization (OR, 4.191; P = 0.029) were independent risk factors for delayed recanalization of CVT and oral anticoagulation (OR, 0.300; P = 0.020) was an independent factor in promoting recanalization in multivariate analysis. Conclusion: For patients with isolated CVT, no oral anticoagulation resulted in higher rates of delayed recanalization compared to oral anticoagulation treatment. Immobilization and having malignancy were independent risk factors for delayed recanalization.