Whole genome sequencing based noninvasive prenatal test

조은해 대한의학유전학회 2015 대한의학유전학회지 Vol.12 No.2

Whole genome sequencing (WGS)-based noninvasive prenatal test (NIPT) is the ἀrst method applied in the clinical setting out of various NIPT techniques. Several companies, such as Sequenom, BGI, and Illumina offer WGS-based NIPT, each with different technical and bioinformatic approaches. Sequenom, BGI, and Illumina utilize z-, t-, and L-scores, as well as normalized chromosome values, respectively, for trisomy detection. Their outstanding performance has been demonstrated in clinical studies of more than 100,000 pregnancies. The sensitivity and speciἀcity for detection of trisomies 13, 18, and 21 were above 98%, as reported by all three companies. Unlike other techniques, WGS-based NIPT can detect other trisomies as well as clinically significant segmental duplications/deletions within a chromosome, which could expand the scope of NIPT. Incorrect results could be due to low fetal fraction, fetoplacental mosaicism, conἀned placental mosaicism or maternal copy number variation (CNV). Among those, maternal CNV is a signiἀcant contributor of false positive results and therefore genome wide scanning plays an important role in preventing the occurrence of false positives. In this article, the bioinformatic techniques and clinical performance of three major companies are comprehensively reviewed.

Viridans Streptococci 균혈증의 임상적 의의

조은해,이남용 대한진단검사의학회 2003 Annals of Laboratory Medicine Vol.23 No.4

배경 :Viridans streptococci는 여러 균종을포함하는 명칭으로,주로 구강상재균으로 존재하며 임상검체에서 이 균의 동정은 오염균으로 잘못 해석될 수도 있다. 본 연구에서는 viridans strepto-cocci에 의한균혈증의 임상적 의미를 분석하고, 역학적, 임상적인특징과 항생제 감수성 양상을 살펴보고자 하였다.방법 : 1998년 1월부터 2002년 12월까지 혈액배양에서 viridansstreptococci가 분리된 환자들을대상으로 의무기록을 후향적으로분석하였다. 균의 동정은 Vitek 장비를 이용하였으며, penicillin,cefotaxime, chloramphenicol, clindamycin, erythromycin에 대해서는 디스크 확산법으로 항균제 감수성 검사를 시행하였으며,penicillin에 대해서는 E-test를실시하여 최소억제농도를 구하였다.결과 : 154명의 Streptococcus viridans균혈증 환자중 56명에서 종단위까지 동정되었는데, S. salivarius(19), S. mitis(16),S intermedius (7), S. sanguis (7), S. uberis (3), S. oralis(2),S. bovis (1), S. mutans (1) 순이었다. 가장 흔한 진단군은 감염성 질환(54명)이었으며, 고형종양(45명), 혈액종양(29명), 간질환(8명) 순이었다. 7명의 환자는 아급성 심내막염 (4.5%) 이였으며이들 모두는 기저 심질환을 가지고 있었다. 76명(49.3%)의 환자가혈액배양검사에서 2회 이상 분리되었다. 3명 (21.4%)의 환자는 절대 호중구수치가 500/ L 이하였다. 34명(22%)은 다균혈증 환자였다. 혈액배양검사에서 두 번 이상 양성 소견을 보인 환자와 절대호중구수치가 500/ L 이하로 감소된 환자와 균혈증의 증상을 보인 환자에서의 viridans streptococci의 동정을감염균으로 해석했을 때, 29.9%는 오염균에 의한 것으로 판단되었다. 2명의 환자가viridans streptococci 단독에 의한 균혈증으로 사망하였다. 68%의viridans streptococci는 penicillin에감수성이었다.

종이팩의 배출실태 분석을 통한 관련 재활용제도 개선방안 검토

조은해,김경,김도완,배재근 한국폐기물자원순환학회 2022 한국폐기물자원순환학회지 Vol.39 No.1

Beverage cartons are made of natural pulp and, if recycled, can be used as high-quality resources that generate high economic profits and low carbon emissions. However, as of 2020, the recycling rate for beverage cartons was 16.1%, the lowest level since the extended producer responsibility system was introduced in 2003. This study diagnosed a problem with the beverage carton recycling system and proposed a plan for improvement. Through a nationwide on-site survey (n=41), this study identified the discharge ratio of used beverage cartons by region (metropolitan city), housing type (sale, lease), discharge method (separate, mixed), collection type (daily, regular), and the current status of beverage carton-related collection and recycling companies. According to an analysis of the discharge characteristics of used beverage cartons, the proportion of aseptic cartons in densely populated areas in Seoul and other metropolitan regions was high (37.1% to 40.4%). Furthermore, the disposal rate of aseptic cartons was high in the following order : lease > sale > lease + sale. The difference in the aseptic carton waste generation rate by collection method was not statistically significant. Still, the difference in discharge type was 4.8 percent point higher than that of mixed discharge when disposed separately. According to an on-site survey of carton pack-related collection and recycling companies, the poor collection rate, low collection quality, and lack of market for recycled sanitary paper were recognized as significant challenges. Following the prospect of delivered and imported ratio of aseptic cartons raise to 50% in 2024 and 80% in 2035, this study proposed to split the separate discharge system for gable-top cartons and aseptic cartons to diversify recycled products like other foreign countries.

가족사회학의 새로운 연구동향과 이론적 쟁점

조은(曺恩),안병철(서평자) 한국사회학회 1986 韓國社會學 Vol.20 No.SM

Comparing Two Diagnostic Laboratory Tests for Several Microdeletions Causing Mental Retardation Syndromes: Multiplex Ligation-Dependent Amplification vs Fluorescent In Situ Hybridization

조은해,박보야나,조정희,강유선 대한진단검사의학회 2009 Annals of Laboratory Medicine Vol.29 No.1

Background : Microdeletion syndromes not detectable by conventional cytogenetic analysis have been reported to occur in approximately 5% of patients with unexplained mental retardation (MR). Therefore, it is essential to ensure that patients with MR are screened for these microdeletion syndromes. Mental retardation syndrome multiplex ligation-dependent probe amplification (MRS-MLPA) is a new technique for measuring sequence dosages that allows for the detection of copy number changes of several microdeletion syndromes (1p36 deletion syndrome, Williams syndrome, Smith- Magenis syndrome, Miller-Dieker syndrome, DiGeorge syndrome, Prader-Willi/Angelman syndrome, Alagille syndrome, Saethre-Chotzen syndrome, and Sotos syndrome) to be processed simultaneously, thus significantly reducing the amount of laboratory work. Methods : We assessed the performance of MLPA (MRC-Holland, The Netherlands) for the detection of microdeletion syndromes by comparing the results with those generated using FISH assays. MLPA analysis was carried out on 12 patients with microdeletion confirmed by FISH (three DiGeorge syndrome, four Williams syndrome, four Prader-Willi syndrome, and one Miller-Dieker syndrome). Results : The results of MLPA analysis showed a complete concordance with FISH in 12 patients with microdeletion syndromes. Conclusions : On the basis of these results, we conclude that MLPA is an accurate, reliable, and cost-effective alternative to FISH in the screening for microdeletion syndromes. Background : Microdeletion syndromes not detectable by conventional cytogenetic analysis have been reported to occur in approximately 5% of patients with unexplained mental retardation (MR). Therefore, it is essential to ensure that patients with MR are screened for these microdeletion syndromes. Mental retardation syndrome multiplex ligation-dependent probe amplification (MRS-MLPA) is a new technique for measuring sequence dosages that allows for the detection of copy number changes of several microdeletion syndromes (1p36 deletion syndrome, Williams syndrome, Smith- Magenis syndrome, Miller-Dieker syndrome, DiGeorge syndrome, Prader-Willi/Angelman syndrome, Alagille syndrome, Saethre-Chotzen syndrome, and Sotos syndrome) to be processed simultaneously, thus significantly reducing the amount of laboratory work. Methods : We assessed the performance of MLPA (MRC-Holland, The Netherlands) for the detection of microdeletion syndromes by comparing the results with those generated using FISH assays. MLPA analysis was carried out on 12 patients with microdeletion confirmed by FISH (three DiGeorge syndrome, four Williams syndrome, four Prader-Willi syndrome, and one Miller-Dieker syndrome). Results : The results of MLPA analysis showed a complete concordance with FISH in 12 patients with microdeletion syndromes. Conclusions : On the basis of these results, we conclude that MLPA is an accurate, reliable, and cost-effective alternative to FISH in the screening for microdeletion syndromes.

시︱조은

조은 새얼문화재단 2004 황해문화 Vol.42 No.-

자반고등어를 구우며

조은해 수필미학 2016 수필미학 Vol.14 No.-

Evaluation of Two Commercial HLA-B27 Real-Time PCR Kits

조은해,이상곤,석정호,박보야나,이은희 대한진단검사의학회 2009 Annals of Laboratory Medicine Vol.29 No.6

Background : The standard PCR with sequence-specific primers (SSP) is a widely used method of HLA-B27 typing in clinical practice. The aim of our study was to evaluate 2 Korean HLA-B27 kits with different real-time PCR chemistries. Methods : To validate the accuracy of real-time PCR kits, we selected 28 HLA-B27-positive samples and 33 HLA-B27-negative samples with a wide range of different HLA-B specificities typed by standard PCR-SSP. The 2 real-time PCR kits used were the AccuPower HLA-B27 real-time PCR kit (Bioneer, Korea) with TaqMan probes and the Real-QTM HLA-B*27 detection kit (BioSewoom, Korea) with SYBR Green I dye for melting curve analysis. Results : All 61 samples typed by PCR-SSP demonstrated a perfect concordance with the 2 realtime PCR assays. It was possible to clearly discriminate between HLA-B27-positive and -negative samples in both real-time assays. Conclusions : In summary, both real-time PCR assays for HLA-B27 were fast, reliable, well-adapted for routine laboratory testing, and attractive alternatives to the conventional PCR-SSP method. Background : The standard PCR with sequence-specific primers (SSP) is a widely used method of HLA-B27 typing in clinical practice. The aim of our study was to evaluate 2 Korean HLA-B27 kits with different real-time PCR chemistries. Methods : To validate the accuracy of real-time PCR kits, we selected 28 HLA-B27-positive samples and 33 HLA-B27-negative samples with a wide range of different HLA-B specificities typed by standard PCR-SSP. The 2 real-time PCR kits used were the AccuPower HLA-B27 real-time PCR kit (Bioneer, Korea) with TaqMan probes and the Real-QTM HLA-B*27 detection kit (BioSewoom, Korea) with SYBR Green I dye for melting curve analysis. Results : All 61 samples typed by PCR-SSP demonstrated a perfect concordance with the 2 realtime PCR assays. It was possible to clearly discriminate between HLA-B27-positive and -negative samples in both real-time assays. Conclusions : In summary, both real-time PCR assays for HLA-B27 were fast, reliable, well-adapted for routine laboratory testing, and attractive alternatives to the conventional PCR-SSP method.

Dual Component Analysis for In Vivo T2* Decay of Hyperpolarized 13C Metabolites

조은해,이준성,이한솔,양승욱,최영숙,왕은경,송호택,김동현 대한자기공명의과학회 2017 Investigative Magnetic Resonance Imaging Vol.21 No.1

Purpose: To investigate the exchange and redistribution of hyperpolarized 13C metabolites between different pools by temporally analyzing the relative fraction of dual T2* components of hyperpolarized 13C metabolites. Materials and Methods: A dual exponential decay analysis of T2* is performed for [1-13C] pyruvate and [1-13C] lactate using nonspatially resolved dynamic 13C MR spectroscopy from mice brains with tumors (n = 3) and without (n = 4) tumors. The values of shorter and longer T2* components are explored when fitted from averaged spectrum and temporal variations of their fractions. Results: The T2* values were not significantly different between the tumor and control groups, but the fraction of longer T2* [1-13C] lactate components was more than 10% in the tumor group over that of the controls (P < 0.1). The fraction of shorter T2* components of [1-13C] pyruvate showed an increasing tendency while that of the [1-13C] lactate was decreasing over time. The slopes of the changing fraction were steeper for the tumor group than the controls, especially for lactate (P < 0.01). In both pyruvate and lactate, the fraction of the shorter T2* component was always greater than the longer T2* component over time. Conclusion: The exchange and redistribution of pyruvate and lactate between different pools was investigated by dual component analysis of the free induction decay signal from hyperpolarized 13C experiments. Tumor and control groups showed differences in their fractions rather than the values of longer and shorter T2* components. Fraction changing dynamics may provide an aspect for extravasation and membrane transport of pyruvate and lactate, and will be useful to determine the appropriate time window for acquisition of hyperpolarized 13C images.

PP 지지체를 이용한 옻/PDDA 복합 멤브레인의 비수계 레독스 플로우 배터리 응용연구

조은해,원종옥 한국공업화학회 2016 한국공업화학회 연구논문 초록집 Vol.2016 No.1

에너지 저장 시스템의 한 종류인 비수계 레독스 플로우 배터리는 친환경적이며 높은 안정성과 넓은 전압범위로 인하여 최근에 많이 주목 받고 있는 시스템이다. 이 배터리의 주요 구성요소인 멤브레인은 양극과 음극을 분리시킴과 동시에 높은 이온 선택 성을 가져야 하는 중요한 역할을 한다. 따라서 천연물질이며 내구성이 강한 옻, 이온 교환기를 갖고 있는 Poly (diallydimethyl ammonium chloride) [PDDA], 그리고 다공성 막인 Polypropylene [PP]를 지지체로 사용함으로써 높은 이온 전도도를 갖는 복합 멤브레인을 제조하였다. PP+옻/PDDA 멤브레인 (PDDA 중량 비 40wt%)의 경우, 우수한 이온전도도 1.3X10^-1 값을 갖는다. 또한 비수계 레독스 플로우 배터리의 결과로서, 상용화된 멤브레인인 Neosepta AHA는 22.8%의 에너지 효율을 갖는 것에 비해 PP+옻/PDDA 멤브레인은 42.1%로 약 2배 높은 우수한 에너지 효율을 보이는 것을 확인하였다.