• 한국발생생물학회지:발생과생식
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• 제19권2호
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• pp.111-118
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• 2015

This article explores the questions regarding PND and PID, especially the concrete legal conditions for the justification of PND and PID. As such, the German law stipulating PND and PID in a very concrete and detailed manner is introduced and explained in comparison with the corresponding South Korean law. The South Korean Bioethics and Biosafety Act (BBA) stipulates various types of gene testing and does not demonstrate a delicate sense of each type of gene testing. In contrast to the South Korean regulation, in Germany, there exist specific regulations for genetic counseling. Especially in the case of PND, GEKO stipulates the process of genetic counseling very concretely, based on GenDG. In the case of PND and PID, it is important that the people concerned understand the meaning of testing in various angles, and restructuralize it by combining it with their own values as the diagnosis is directly combined with pregnancy/abortion, which influences the whole life of a woman (and her partner). In this context, the South Korean BBA needs to be amended as soon as possible. The sections on informed consent also need to be amended to make them more concrete. Furthermore, guidelines for concretizing the regulation of BBA need to be continuously formulated and developed.

• 한국소음진동공학회논문집
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• 제27권2호
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• pp.189-194
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• 2017

An compressor that is combined with the rotor and pneumatic technology has been researching for the performance of pressure. However, the control of operations, an accurate diagnosis and the maintenance of compressor system are limited though the simple structure of compressor and compression are advantaged to reduce the energy. In this paper, the characteristic of the compressor operating under the normal or abnormal condition is realized. and the efficient diagnosis method is proposed through feature based analysis. Also, by using the GA (genetic algorithm) and SVM (support vector machine) of machine learning, the performance of feature analysis is conducted. Different misalignment mode of learning data for compressor is evaluated using the fault simulator. Therefore, feature based analysis is conducted considering misalignment mode of the compressor and the possibility of a diagnosis of misalignment is evaluated.

• Clinical and Experimental Reproductive Medicine
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• 제46권4호
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• pp.206-210
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• 2019

Mucopolysaccharidosis type II (MPS II) is a rare X-linked recessive lysosomal storage disease caused by mutation of the iduronate-2-sulfatase gene. The mutation results in iduronate-2-sulfatase deficiency, which causes the progressive accumulation of heparan sulfate and dermatan sulfate in cellular lysosomes. The phenotype, age of onset, and symptoms of MPS II vary; accordingly, the disease can be classified into either the early-onset type or the late-onset type, depending on the age of onset and the severity of the symptoms. In patients with severe MPS II, symptoms typically first appear between 2 and 5 years of age. Patients with severe MPS II usually die in the second decade of life although some patients with less severe disease have survived into their fifth or sixth decade. Here, we report the establishment of a preimplantation genetic diagnosis (PGD) strategy using multiplex nested polymerase chain reaction, direct sequencing, and linkage analysis. Unaffected embryos were selected via the diagnosis of a single blastomere, and a healthy boy was delivered by a female carrier of MPS II. This is the first successful application of PGD in a patient with MPS II in Korea.

• 한국발생생물학회지:발생과생식
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• 제25권2호
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• pp.113-121
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• 2021

This article aims to introduce German discussion on the approval of the non-invasive prenatal diagnosis (NIPD), which started with the development of PrenaTest^® by LifeCodexx AG. The discussion started with the concern that the non-invasive nature of NIPD, such as PrenaTest^®, may rapidly expand the use and scope of similar tests, thus leading to a new era of eugenics. Based on this concern, the need for clear clinical guidelines on specific indications for NIPD has been suggested. Along the same line, it was discussed whether PrenaTest^® is against the Basic Law prohibiting discrimination on grounds of disability and whether the test is outside the scope of the purpose of gene testing limited by Genetic Diagnosis Act. Through such discussion, the Federal Ministry of Health of Germany established the preconditions for inclusion of NIPD in the German public health insurance system. For this, the German motherhood guideline was amended and the information for the insured persons provided to pregnant women was included in the amended guideline. Such discussion made in Germany provides insight on which points should be considered when various gene testings are accepted in Korea, in which genetic communication has not been systematized yet. In particular, German counseling system for pregnant women will provide valuable insights for Korea where the direction for regulations on abortion has not been established even after the ruling by the Constitutional Court that charges for abortion are against the constitution.

• Journal of Genetic Medicine
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• 제17권1호
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• pp.27-33
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• 2020

Purpose: Duchenne muscular dystrophy (DMD) is the most common lethal muscular dystrophy and is caused by the genetic variants of DMD gene. Because DMD is X-linked recessive and shows familial aggregates, prenatal diagnosis is an important role in the management of DMD family. We present our experience of prenatal molecular diagnosis and carrier detection based on multiplex polymerase chain reaction (PCR), multiplex ligation-dependent probe amplification (MLPA), and linkage analysis. Materials and Methods: During study period, 34 cases of prenatal diagnosis and 21 cases of carrier detection were performed at the Seoul National University Hospital. Multiplex PCR and MLPA was used to detect the exon deletions or duplications. When the DMD pathogenic variant in the affected males is unknown and no DMD pathogenic variant is detected in atrisk females, linkage analysis was used. Results: The prenatal molecular diagnosis was offered to 34 fetuses. Twenty-five fetuses were male and 6 fetuses (24.0%) were affected. Remaining cases had no pathogenic mutation. We had 24 (80.0%) cases of known proband results; exon deletion mutation in 19 (79.2%) cases and duplication in 5 (20.8%) cases. Linkage analysis was performed in 4 cases in which 2 cases (50.0%) were found to be affected. In the carrier testing, among 21 cases including 15 cases of mother and 6 cases of female relative, 9 (42.9%) cases showed positive results and 12 (57.1%) cases showed negative results. Conclusion: Prenatal molecular diagnosis and carrier detection of DMD are effective and feasible. They are useful in genetic counseling for DMD families.

• 한국한의학연구원논문집
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• 제18권1호
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• pp.59-74
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• 2012

Objective : The aim of this study is to investigate current status of Sasang constitutional medicine researches and to provide source in setting a development strategy and making a policy on the Sasang constitutional medicine. Method : This study analyzed trends in research as represented in the 142 articles of Korea Institute of Oriental Medicine in the field of Sasang constitution medicine from 2007 to 2010. Result : The main themes of studies were Sasang constitution clinical study (68, 47%) and developing instruments for measuring diagnosis (48, 33%), especially pulse diagnosis (25, 17%). Genetic researches and trends studies on Sasang constitutional medicine were respectively 17 (12%) and 8 (5%). As a result, Korea Institute of Oriental Medicine established Sasang clinical information bank, and discovered clinical character of Sasang constitution to develope various diagnosis tools include constitution survey form and pulse diagnosis instrument. Genetic researches also discover constitution related genes such as FTO and MC4R, and explore association between heredity and Sasang constitution. Conclusion : The above mentioned achievements of Korea Institute of Oriental Medicine were limited to diagnosis process, unquestionably studies for reproducibility and authenticity of constitution diagnosis were important mission of Sasang constitutional medicine. However, to develop the advance of Sasang constitutional medicine, not only constitution diagnosis but also constitutional treatment studies should be conducted.

• Journal of Interdisciplinary Genomics
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• 제2권1호
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• pp.5-9
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• 2020

von Willebrand disease (VWD) is a genetic bleeding disorders caused by a deficiency of von Willebrand factor (VWF). Diagnosis or exclusion of VWD is not an easy task for most clinicians. These difficulties in diagnosis or exclusion of VWD may be due to preanalytic, analytical and postanalytic laboratory issues. Analytical systems to diagnose VWD may produce misleading results because of limitations in their dynamic range of measurement and low sensitivity. However, preanalytical issues such as sample collection, processing, and transportation affect the diagnosis of VWD profoundly. We will review here the common preanlytical issues that may impact the laboratory diagnosis of VWD.

• 대한기계학회:학술대회논문집
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• 대한기계학회 2004년도 춘계학술대회
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• pp.822-827
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• 2004

In this paper, an intelligent fault diagnosis system is proposed for induction motors through the combination of feature extraction, genetic algorithm (GA) and neural network (ANN) techniques. Features are extracted from motor vibration signals, while reducing data transfers and making on-line application available. GA is used to select most significant features from whole feature database and optimize the ANN structure parameter. Optimized ANN diagnoses the condition of induction motors online after trained by the selected features. The combination of advanced techniques reduces the learning time and increases the diagnosis accuracy. The efficiency of the proposed system is demonstrated through motor faults of electrical and mechanical origin on the induction motors. The results of the test indicate that the proposed system is promising for real time application.

• Journal of information and communication convergence engineering
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• 제20권1호
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• pp.31-40
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• 2022

Coronary heart disease (CHD) is a comorbidity of COVID-19; therefore, routine early diagnosis is crucial. A large number of examination attributes in the context of diagnosing CHD is a distinct obstacle during the pandemic when the number of health service users is significant. The development of a precise machine learning model for diagnosis with a minimum number of examination attributes can allow examinations and healthcare actions to be undertaken quickly. This study proposes a CHD diagnosis model based on feature selection, data balancing, and ensemble-based classification methods. In the feature selection stage, a hybrid SVM-GA combined with fast correlation-based filter (FCBF) is used. The proposed system achieved an accuracy of 94.60% and area under the curve (AUC) of 97.5% when tested on the z-Alizadeh Sani dataset and used only 8 of 54 inspection attributes. In terms of performance, the proposed model can be placed in the very good category.

• Childhood Kidney Diseases
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• 제19권1호
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• pp.23-30
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• 2015

NPHP is the most common monogenic cause of CKD in children or adolescents. Extra-renal symptoms often accompany, therefore examination of retina, hearing, and skeleton is necessary in patients with CKD with insidious onset. Genes involved in NPHP-RC are mostly related in primary cilia. While genetic diagnosis is necessary for definitive diagnosis, there is no curative treatment.