Identification of Homozygous Mutations in Two Consanguineous Families with Hearing Loss

임시온,박혜리,정나영,박초은,수매라 칸월,정기화 한국생명과학회 2021 생명과학회지 Vol.31 No.5

Hearing loss is a group of clinically and genetically heterogeneous disorders characterized by congenital- to adult-onset deafness with frequent additional symptoms such as myopathy, nephropathy, and optic disorders. It is commonly divided into two types: syndromic, with no other symptoms, and nonsyndromic, with other symptoms. Autosomal recessive hearing loss is relatively frequent in Pakistan, which may be due in part to frequent consanguineous marriages. This study was performed by whole exome sequencing to determine the genetic causes in two Pakistani consanguineous families with autosomal recessive hearing loss. We identified a pathogenic homozygous variant (p.Leu326Gln in MYO7A) in a family with prelingual-onset hearing loss and two variants of uncertain significance (p.Val3094Ile in GPR98 and p.Asp56Gly in PLA2G6) in a family with early-onset hearing loss concurrent with muscular atrophy. The missense mutations in MYO7A and PLA2G6 were located in the highly conserved sites, and in silico analyses predicted pathogenicity, while the GPR98 mutation was located in the less conserved site, and most in silico analysis programs predicted its nonpathogenic effect. Homozygosity mapping showed that both alleles of the homozygous mutations identified in each family originated from a single founder; spread from this single source might be due to consanguineous marriages. This study will help provide exact molecular diagnosis and treatment for autosomal recessive hearing loss patients in Pakistan.

Mg-4Al-2Sn 합금의 고온 기계적 특성에 미치는 Pd첨가의 영향

임시온,강병수,조대현,박익민,Yim, Si-On,Kang, Byoung-Soo,Cho, Dae-Hyun,Park, Ik-Min 한국주조공학회 2017 한국주조공학회지 Vol.37 No.4

This study investigated the effect of Pd on the microstructure, tensile and creep properties of Mg-4Al-2Sn (AT42) alloy at a high temperature for transportation-related industrial applications. AT42-xPd (x = 0, 1 and 2 wt. %) alloys were prepared using a permanent mould casting method. The microstructures of the as-cast alloys were characterized by the presence of the intermetallic phases $Mg_{17}Al_{12}$, $Mg_2Sn$ and $Al_4Pd$. The addition of Pd was found to improve the tensile properties of AT42 at room and at elevated temperatures, and to increase the creep resistance at elevated temperatures. A small amount of Pd could markedly improve the tensile properties of AT42 by means of grain-refinement and the dispersion of secondary phase strengthening. Moreover, the thermally stable phase $Al_4Pd$ effectively improves the creep resistance of AT42 due to the strengthened grain boundaries and the suppressed formation of $Mg_{17}Al_{12}$.

Finite Element Analysis of Compressive Behavior of Hybrid Short Fiber/Particle/Mg Metal Matrix Composites Using RVE Model

임시온,이욱진,조대현,박익민 대한금속·재료학회 2015 METALS AND MATERIALS International Vol.21 No.2

The compressive behavior of hybrid short fiber/particle composites was examined by using finite elementanalysis and representative volume element models for two different particle shapes. The realistic, random andcomplex distributions of the short fibers and particles were reconstructed to produce a representative volumeelement of the hybrid composites using a random sequential adsorption algorithm. The predicted mechanicalproperties and overall compressive stress-strain by finite element analysis corresponded well to the experimentalresults at the elastic region and near the yield surface, but the model slightly overestimated the strength ofthe composites at higher stress. This deviation possibly occurs from micro-mechanical factors, which werenot considered in the RVE models. In contrast to FE analysis, fracture of the short fiber and fiber-matrixdebonding occurred because of large localized stress. In the case of a high applied load, non-linear behaviorof reinforcements and interfacial strength should be considered to obtain accurate results. Meanwhile,mechanical properties of rectangular particles are more effective on the hybrid composites the sphericalones for the hybrid composites.

서울시 캠핑장 사인시스템 디자인 연구

임시온(Im, Zi On),이재익(Lee, Jae Ik) 한국전시산업융합연구원 2016 한국과학예술융합학회 Vol.24 No.-

최근 캠핑장이 레저 활동으로 각광받게 되며 이용객이 증가하였지만 캠핑객의 편의와 안전을 도모하는 캠핑장 사인시스템 환경은 현재 미흡한 실정이다. 캠핑장이라는 야외공간의 특성 상 각 종 안전사고에 노출되기 쉬우므로 더욱 명확하고 편리한 사인시스템이 필요하다. 본 논문에서는 사인시스템의 이론적 고찰을 통하여 사인의 개념 및 특성, 분류에 대해 살펴본 후, 이에 따라 캠핑장 현황을 조사, 분류하였다. 캠핑장 예약사이트를 바탕으로 조회 수와 고객평가가 가장 높은 상위 10곳 중 서울에 위치한 캠핑장 2곳을 대상으로 조사하였으며, 규모와 위치 면에서 가장 유사한 난지캠핑장과 노을캠핑장 2곳을 선정하여 설문조사를 실시하였다. 캠핑장 이용 시 사인으로 인해 불편했던 경험에 대해 질문하였으며 해당 캠핑장 사인에 대한 총체적인 평가를 설문하였다. 조사한 설문자료를 통하여 캠핑장 사인시스템의 문제점을 파악하고 그 대안을 제시하였으며, 이를 바탕으로 캠핑객의 편의와 안전한 캠핑 산업을 도모할 수 있는 캠핑장 사인시스템 연구의 기초 자료로 활용되기를 기대한다. Although the campgrounds recently have been in the limelight and those using them increased, the environment of their sign system for users’ convenience and safety is not sufficient. Campgrounds need the more obvious and convenient sign system, because they are prone to being exposed to the safety accident by their nature of the outdoor space. After considering the concept, characteristic and classification of signs through theoretical investigation into the sign system, this study researched and classified the present conditions of the campground. Of the top 10 campgrounds in hits and client evaluation based on the campground reservation sites, this study researched 2 campgrounds in Seoul, Korea, and surveyed by selecting 2 campgrounds, Nanji and Noeul, which are most similar in scale and location. The survey questioned about inconvenient experience of campers due to the sign in using the campground and surveyed the total evaluation of signs of the campground. Through the surveyed data, problems of the sign system of campgrounds were investigated and alternatives suggested; based on the results, this study is expected to be used for the basic data of study on campground sign system to promote campers" convenience and safe camping industry.

주택단지를 위한 저예산 CPTED 디자인 가이드라인 연구

임시온 ( Zion Im ),남현우 ( Hyunwoo Nam ) 서경대학교 디자인연구소 2016 디자인 이노베이션 연구 Vol.1 No.0

전처리 및 정전선별에 의한 폐자동차 파쇄 잔재물의 분리효율 향상

임시온 ( Si-on Lim ),김민규 ( Min-gyu Kim ),한오형 ( Oh-hyung Han ),박철현 ( Chul-hyun Park ) 조선대학교 공학기술연구원 2017 공학기술논문지 Vol.10 No.3

In electrostatic separation process for recycling of Automobile Shredder Residue (ASR), its separation efficiency is decreased by the influence of conductive matters attached onto the fine glass particles. Hence induction electrostatic separation testwork has been carried out using non-magnetic products obtained through pre-treatment (such as sieving, washing, pyrolysis and oxidation) to remove impurities. From test result, the sieving and water washing are superior to pyrolysis and oxidation for removing the conductive matters. In the electrostatic separation for recovering non-ferrous, a grade of 78 % and recovery of 82 % could be successfully achieved under conditions of 30 kV electrode potential, 45 % relative humidity and 8 cm splitter position.

차기상륙함(LST-II) 상륙정용 고박설비 개선

임시온 ( Si On Yim ),강병수 ( Byoung Soo Kang ),백용관 ( Yong Kawn Beak ),최상민 ( Sang Min Choi ),이동평 ( Dong Pyung Lee ) 한국품질경영학회 2017 한국품질경영학회 학술대회 Vol.2017 No.1

일방향 및 평직 CF,Mg 복합재 적층판의 부식에 따른 미세조직 및 기계적 특성 변화

임시온 ( Shi On Yim ),이정무 ( Jung Moo Lee ),이상관 ( Sang Kwan Lee ),박용호 ( Yong Ho Park ),박익민 ( Ik Min Park ) 대한금속재료학회(구 대한금속학회) 2012 대한금속·재료학회지 Vol.50 No.9

In this study, unidirectional and plain woven carbon fiber reinforced magnesium matrix composite laminates were fabricated by the liquid pressing infiltration process, and evolutions of the microstructure and compressive strength of the composite laminates under corrosion were investigated by static immersion tests. In the case of the unidirectional composite laminate, the main microstructural damage during immersion appeared as a form of corrosion induced cracks, which were formed at both CF/Mg interfaces and the interfaces between layers. On the otherhand, wrap/fill interface cracks were mainly formed in the plain woven composite laminate, without any cracks at the CF/Mg interface. The formation of these cracks was considered to be associated with internal thermal residual stress, which was generated during cooling after the fabrication process of these materials. As a consequence of the corrosion induced cracks, the thickness of both laminates increased in directions vertical to the fibers with increasing immersion time. With increasing immersion time, the compressive strengths of both composite laminates also decreased continuously. It was found that the plain woven composite laminates have superior corrosion resistance and stability under a corrosive condition than unidirectional laminates.

함정 작업분류체계(SWBS) 기준 모델 연구

신상식,서원범,임시온,김대한 한국품질경영학회 2018 한국품질경영학회 학술대회 Vol.2018 No.-

본 연구는 함정 무기체계 연구개발의 설계·품질경영에 대한 체계적 관리기준 정립과 함정 규격화 추진 기술 지원이 원활하도록 함정 작업분류체계 기준 모델을 제시하고자 한다. 함정 무기체계의 경우 함형 및 건조업체별로 작업분류체계가 상이하게 적용되어 함정 개발 간 획득 자료에 대한 체계적인 관리가 제한됨에 따라 작업분류체계 작성을 위한 기준 모델이 필요하다. 또한 함정 무기체계의 경우 타 무기체계와는 다르게 많은 탑재장비 및 설치장비를 포함하고 있어 이에 따른 광범위한 건조/장비 관련 형상식별서 간 연계성 및 추적 관리를 위한 분류 기준 정립 필요한 실정이다. 이에 주요 함형별 작업분류체계 적용사례(건조사양서 SWBS 번호 등) 및 관련 규정을 분석하여 실제 사용 문제점을 도출하고 이를 개선할 표준화된 작업분류체계를 제시하였다. 향후 제시한 작업푼류체계 기준을 국방표준서로 제정을 추진하며 조선소 건조사양서 작성에 가이드라인을 제시하고자 한다.

잠수함 체계개발단계 QMST/QCG 방법론 연구

김병호,서원범,임시온,최우석,최영호 한국품질경영학회 2020 한국품질경영학회 학술대회 Vol.2020 No.-

본 연구는 잠수함 무기체계 개발단계 참여 및 기술지원을 위한 국방기술품질원(이하 기품원)에서 제시한 품질관리지원팀(QMST) 운영 과 품질통제점(QCG) 검토에 대한 방법론을 제시하고자 한다. 일반 무기체계개발에서는 시제품 제작 후 DT/OT 평가를 통해 규격화를 완료하지만 함정 무기체계개발은 잠정형상결정(DDR)을 통해 선도함을 건조하며 규격화완료 이전 건조 중에 후속양산이 진행되는 특수성이 있다. 다시 말하면, 일반 무기체계개발의 시제품에 대한 검사조서 발행은 대부분 방사청에서 하지만 함정 무기체계개발의 선도함은 기품원에서 수행하기 때문에 지금까지 기품원 함정센터에서 개발단계의 품질관리 업무는 수행하고 있었지만, 체계적인 기술지원이 이행되지 않았던 것이 현 실태이다. 이에 ‘19년부터 제도화된 기품원 개발단계 참여를 위한 국내 OOOO급 잠수함 개발단계 품질지원을 위해 품질관리 지원팀 운영 및 품질통제점 검토 제도를 이용한 함정 체계개발단계 방법론에 대해서 논의 하고자 한다.