• Clinical and Experimental Pediatrics
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• 제61권5호
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• pp.160-166
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• 2018

Purpose: This study aimed to analyse laboratory values according to fever duration, and evaluate the relationship across these values during the acute phase of Kawasaki disease (KD) to aid in the early diagnosis for early-presenting KD and incomplete KD patients. Methods: Clinical and laboratory data of patients with KD (n=615) were evaluated according to duration of fever at presentation, and were compared between patients with and without coronary artery lesions (CALs). For evaluation of the relationships across laboratory indices, patients with a fever duration of 5 days or 6 days were used (n=204). Results: The mean fever duration was $6.6{\pm}2.3days$, and the proportions of patients with CALs was 19.3% (n=114). C-reactive proteins (CRPs) and neutrophil differential values were highest and hemoglobin, albumin, and lymphocyte differential values were lowest in the 6-day group. Patients with CALs had longer total fever duration, higher CRP and neutrophil differential values and lower hemoglobin and albumin values compared to patients without CALs. CRP, albumin, neutrophil differential, and hemoglobin values at the peak inflammation stage of KD showed positive or negative correlations each other. Conclusion: The severity of systemic inflammation in KD was reflected in the laboratory values including CRP, neutrophil differential, albumin, and hemoglobin. Observing changes in these laboratory parameters by repeated examinations prior to the peak of inflammation in acute KD may aid in diagnosis of early-presenting KD patients.

• Journal of Genetic Medicine
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• 제14권1호
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• pp.43-47
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• 2017

Cat eye syndrome (CES) is a very rare chromosomal syndrome characterized by various malformations such as anal atresia, preauricular malformation, coloboma of the iris, and congenial heart and renal defects. This genetic disorder is caused by partial duplication of chromosome 22, mostly as a result of a supernumerary isodicentric marker chromosome idic(22)(q11.2). Various congenital abnormalities and extreme phenotypic variability in CES patients have been reported, which have made prenatal diagnosis of CES difficult. We report the first case diagnosed with CES prenatally by multiplex ligation-dependent probe amplification in a woman who was referred to our hospital, for a fetus presenting with heart anomaly.

• 대한의생명과학회지
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• 제28권4호
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• pp.298-306
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• 2022

Pathological tissue fixation using formalin has been widely used for histological samples in many hospitals and institutions. In general, formalin fixatives were either manufactured in laboratories or purchased commercially because of the risks and environmental concerns of handling organic compounds. In this study, the efficacy of three kinds of commercially purchased and one laboratory-made formalin fixative was compared in the PCR-based molecular diagnosis using the extracted DNA from formalin-fixed paraffin-embedded (FFPE) tissues. The quality of extracted DNA from FFPE tonsil tissues with four kinds of formalin solutions was evaluated, and PCR for beta-globin gene and microsatellite instabilities (MSI) tests for pentaplex panel markers were performed using the extracted DNA. There was no difference in PCR and MSI tests as molecular diagnoses regardless of the types of formalin used in this study. However, the total amount and average length of double-stranded DNA extracted from FFPE tonsil tissue showed significant differences according to the type of formalin fixative. Optimized formalin fixatives and methods for DNA extraction might be sophisticated to extract good quality DNA from the small size of specific tissue samples. Further studies are needed to select the most effective formalin fixative for histology and molecular pathology using human FFPE tissues.

• Clinical and Experimental Reproductive Medicine
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• 제32권1호
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• pp.17-26
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• 2005

Objective: Preimplantation genetic diagnosis (PGD) is reserved for couples with a risk of transmitting a serious and incurable disease, and hence avoids the undesirable therapeutic abortion. In this study, we evaluated the efficacy of PGD for Duchenne muscular dystrophy (DMD) cases by the fluorescent PCR with polymorphic linked markers and the conventional duplex-nested PCR methods. Methods: Biopsy of one or two blastomeres was done from the embryos fertilized by ICSI on the third day after fertilization. We performed two cases of PGD-DMD by the duplex-nested PCR for the causative mutation loci and the SRY gene on Y chromosome. The triplex fluorescent PCR for the mutation loci, the SRY gene and the polymorphic microsatellite marker on X chromosome was applied for two cases of PGD-DMD. Results: By the duplex-nested PCR, successful diagnosis rate was 95.5% (21/22), but we could not discriminate the female embryos whether normal or carrier in this X-linked recessive disease. However, the triplex fluorescent PCR method showed 100% (27/27) of successful diagnosis rate, and all female embryos (n=17) were distinguished normal (n=10) from carrier (n=7) embryos. Unaffected and normal embryos were transferred into mother's uterus after diagnosis. A healthy normal male was achieved after PGD with the duplex-nested PCR method and a twin, a male and a female, were delivered with triplex fluorescent PCR method. The normality of dystrophin gene was confirmed by amniocentesis and postnatal genetic analysis in all offsprings. Conclusion: The fluorescent PCR with polymorphic marker might be useful in improving the specificity and reliability of PGD for single gene disorders.

• Journal of Information Processing Systems
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• 제16권3호
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• pp.530-540
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• 2020

In order to solve the problem of low tracking accuracy caused by complex noise in the fault diagnosis of complex nonlinear system, a fault diagnosis method of high precision cost reference particle filter (CRPF) is proposed. By optimizing the low confidence particles to replace the resampling process, this paper improved the problem of sample impoverishment caused by the sample updating based on risk and cost of CRPF algorithm. This paper attempts to improve the accuracy of state estimation from the essential level of obtaining samples. Then, we study the correlation between the current observation value and the prior state. By adjusting the density variance of state transitions adaptively, the adaptive ability of the algorithm to the complex noises can be enhanced, which is expected to improve the accuracy of fault state tracking. Through the simulation analysis of a fuel unit fault diagnosis, the results show that the accuracy of the algorithm has been improved obviously under the background of complex noise.

• Journal of Genetic Medicine
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• 제4권1호
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• pp.84-87
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• 2007

척수소뇌성 실조증3는 신경세포의 손상으로 인해 생기는 질병으로 염색체14q32.1지역에 반복적인 CAG 삼염기 서열이 증가하면서 일어나는 것으로 알려져 있다. 본 증례는 척수소뇌성 실조증3으로 진단을 받은 부부에서 자연 임신한 태아를 산전진단한 경우로서 형광으로 포식된 표지자를 이용하여 CAG 지역을 증폭하여 빠르고 정확하게 반복수를 확인하는 방법을 이용하였다. 남편의 경우 CAG반복을 넘는 69개의 반복과 정상인 27개의 반복된 유전자를 갖고 있는 것으로 확인하였으며, 산모의 경우 정상인 26과 32개의 반복된 유전자를 갖고 있는 것으로 확인하였다. 태아는 부계의 27과 모계의 26개를 갖는 정상 유전자를 물려 받은 것으로 확인되어 건강한 아기를 분만하였다. 형광을 이용한 진단방법은 방사능을 사용하는 방법에 비해 안전하고 빠른 진단을 할 수 있으며 시료 채취 후 5-6시간 안에 정확하게 결과를 확인할 수 있는 방법이라 생각된다.

• 대한생식의학회:학술대회논문집
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• 대한생식의학회 2007년도 제52차 춘계학술대회 초록집
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• pp.143-143
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• 2007

• 제어로봇시스템학회:학술대회논문집
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• 제어로봇시스템학회 1993년도 한국자동제어학술회의논문집(국제학술편); Seoul National University, Seoul; 20-22 Oct. 1993
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• pp.109-114
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• 1993

It is well known that neural networks can be used to diagnose multiple faults to some limited extent. In this work we present a Multiple Fault Diagnosis Method (MFDM) via neural network which can effectively diagnose multiple faults. To diagnose multiple fault, the proposed method finds the maximum value in the output nodes of the neural network and decreases the node value by changing the hidden node values. This method can find the other faults by computing again with the changed hidden node values. The effectiveness of this method is explored through a neural-network-based fault diagnosis case study of a fluidized catalytic cracking unit (FCCU).

• 한국수의병리학회:학술대회논문집
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• 한국수의병리학회 2002년도 추계학술대회초록집
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• pp.21-37
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• 2002

Successful diagnosis of a disease in food-producing animals depends in many times on proper collection and handling of specimens, as well as careful clinical observation and evaluation of the diseased animals. During the period required to complete the appropriate laboratory tests, an awareness of the potential problems of disease spread to animals at risk and the available palliative treatments is essential. Because most microbial-induced diseases in herds or flocks cannot be effectively treated once the problem is established, management through prevention and control of the disease must be instituted to offer the maximum protection to animals at risk. Thus, the course of disease management for infectious diseases is oftentimes a difficult judgment decision. This paper presents a brief general guide to specimen collection and laboratory methods used for diagnosis of diseases in production animals. (omitted)

• 대한임상검사과학회지
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• 제36권1호
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• pp.64-68
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• 2004

뇌 기능의 비가역적 중단을 뇌사라 정의한다. 뇌사를 진단하기 위해 선행되어야 할 조건은 종양, 뇌졸중, 사고 등에 의한 뇌 기능의 소실된 원인이 확실하여야 하고, 자발호흡의 비가역적 중단과 약물이나 급성 대사성 장애가 없어야 하고, 저 체온 상태가 아니어야 하며, 심장 쇼크 상태가 아니어야 한다. 뇌간 반사 작용이 없어야 한다. 뇌사를 진단하기 위한 검사로는 뇌파검사와 유발전위 검사에서 뇌로부터 나오는 파형이 없어야 하고, 뇌혈류와 angiography에서 혈류의 흐름이 없어야 한다. 이 논문은 뇌사를 진단하는 신경과 의사와 뇌신경 검사를 시행하는 임상병리사에게 도움이 될 것이다.