• 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.

• Asian Pacific Journal of Cancer Prevention
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• 제15권24호
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• pp.10739-10743
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• 2015

The present study aimed at evaluating and comparing the diagnostic performance of B-mode ultrasound (US), elastography score (ES), and strain ratio (SR) for the differentiation of breast lesions. This retrospective study enrolled 431 lesions from 417 in-hospital patients. All patients were examined with both conventional ultrasound and elastography. Two experienced radiologists reviewed ultrasound and elasticity images. The histopathologic result obtained from ultrasound-guided core biopsy or operation excisions were used as the reference standard. Pathologic examination revealed 276 malignant lesions (64%) and 155 benign lesions (36%). A cut-off point of 4.15 (area under the curve, 0.891) allowed significant differentiation of malignant and benign lesions. ROC (receiver-operating characteristic) curves showed a higher value for combination of B-mode ultrasound and elastography for the diagnosis of breast lesions. Conventional ultrasound combined elastography showed high sensitivity, specificity, and accuracy for group II lesions (10mm${\leq}20mm$). Elastography combined with conventional ultrasound show high specificity and accuracy for differentiation of benign and malignant breast lesions. Elastography is particularly important for the diagnosis of BI-RADS 4 and small breast lesions.

• Journal of Microbiology
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• 제40권4호
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• pp.301-304
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• 2002

Is a multiple number of sputum specimens necessary for the diagnosis of pulmonary tuberculosis? To answer this question, 6844 respiratory specimens obtained from previously untreated patients suspected of having pulmonary tuberculosis between 1998 and 2001 were evaluated retrospectively. All of the specimens were evaluated by acid fast bacilli smear and BACTEC 460 TB culture system. A total of 785 (11%) specimens from 353 patients were positive for Mycobacterium tuberculosis complex. For 76% (270/353) of these patients the organism was detected from sputum specimens collected sequentially for daily basis. Mycobacterium tuberculosis was isolated in the first, second and third samples of the majority (98%,195/199) of patients who had three or more sputum samples sent to the laboratory. Our results indicate that, we could carry out Mycobacterium tuberculosis isolation in the first, second and third sputum samples of the overwhelming majority of the patients and the diagnostic value of four or more sputum specimens submitted to the laboratory was very low (2%). We recommend that, for definitive and cost-effective diagnosis of pulmonary tuberculosis at least three sequential sputum specimens be collected for all patients suspected pulmonary tuberculosis.

• 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.

• Asian Pacific Journal of Cancer Prevention
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• 제14권11호
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• pp.6241-6243
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• 2013

Objective: To explore the predictive value of tumor markers, including cancer antigen 72-4 (CA72-4), cancer antigen 15-3 (CA15-3) and cancer antigen 125 (CA125), in single or combined detection, for the diagnosis of ovarian cancer. Methods: 120 patients diagnosed with ovarian cancer from August 2011 to March 2013 and 80 patients diagnosed with benign ovarian tumors were enrolled in this test, along with 50 health examination women randomly selected from the database as controls. Serum levels of CA72-4, CA15-3 and CA125 in this study were determined by electrochemiluminescence (ECL). Results: Serum levels of CA72-4, CA15-3 and CA125 in ovarian cancer were higher than those in healthy group and benign group (P<0.01).The sensitivity of combined detection of those three tumor markers for diagnosis of ovarian cancer was obviously higher than with single detection with each marker (P<0.01). Conclusions: CA72-4, CA15-3 and CA125 could be a good combination in the diagnosis of ovarian cancer. Patients whose tumor markers continue to increase should be highly suspected of malignancy.

• 대한전기학회:학술대회논문집
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• 대한전기학회 1997년도 하계학술대회 논문집 E
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• pp.1692-1695
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• 1997

This paper describes the relationship between the various non-destructive parameters and the breakdown voltage for the 17 kV, 300 MVA and the 22 kV, 500 MVA generators stator bars with polyester and epoxy/mica insulation respectively. Also, this study reports the results of an investigation into the factors which can assess the insulation condition of generator stator winding. Furthermore, a new parameter, Partial Discharge Index(PDI), is introduced as the valuable parameter for the assessment of insulation condition. The ratio between partial discharge increment and the stepwise voltage increment from the Discharge Inception Voltage (DIV) at the characteristic or resonant frequency band shows the close relationship between the breakdown voltage and PDI.

• 대한의생명과학회지
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• 제24권4호
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• pp.435-438
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• 2018

Acanthamoeba culbertsoni is the causative agent of granulomatous amoebic encephalitis (GAE), a condition that predominantly occurs in immunocompromised individuals and which is typically fatal. A mannose-binding protein (MBP) among lectins was shown to have strong A. castellanii pathogenic potential when correlated with major virulence proteins. In this study, protective effects were analyzed using the monoclonal antibody to A. culbertsoni MBP by quantification and were also compared with other free-living amoebae. For the amoebial cytotoxicity to the target cell, amoeba trophozoites were incubated with Chinese hamster ovary (CHO) cells. For the protective effects of antibodies, amoebae were pre-incubated with them for 4 h and then added to the target cells. After 24 h, the supernatants were collected and examined for host cell cytotoxicity by measuring lactate dehydrogenase (LDH) release. The cytotoxicity of A. culbertsoni to the CHO cells showed about 87.4%. When the monoclonal antibody was pre-incubated with A. culbertsoni, the amoebial cytotoxicity was remarkably decreased as shown at LDH release (1.858 absorbance), which was represented with about 49.9%. Taken together, it suggested that the monoclonal antibody against MBP be important to inhibit the cytotoxicity of A. culbertsoni trophozoites to the target cell. The antibody will be applied into an in vivo functional analysis, which would help to develop therapeutics.

• Clinical and Experimental Pediatrics
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• 제50권2호
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• pp.132-137
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• 2007

Patients with febrile illness and skin rashes need full and immediate attention. In general, these diseases show mild manifestations and good prognosis. However, causalities of some diseases with fever and rash may be life threatening or trivial. So, the differential diagnosis for those patients is extensive. A through history, a careful physical examination and close observation of clinical progress are very helpful and essential to confirming the diagnosis. Histories of recent travel, drug or specific food ingestion, exposure to human or an animal source of infection may be useful to discover the cause. Although laboratory tests can be useful in making the diagnosis, laboratory results usually are not available immediately. Knowledge and experiences of such diseases may be helpful to reduce the differential diagnosis to a few major possibilities. Rashes can be categorized as petechial, maculopapular, vesicular, urticarial and erythematous. Potential causes include infectious pathogens such as virus, bacteria, rickettsiae, spirohetes, connective tissue diseases, allergic diseases and heamto-oncologic diseases. Because the severity of these diseases can vary mild to life threatening, physicians must perform prompt management decisions regarding empirical therapies. In this article, the differential etiological diagnosis of each type rash is reviewed and discussed, and with emphasis on intensive care of life threatening febrile diseases with rashes that are seen in our country.

• Nuclear Engineering and Technology
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• 제50권8호
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• pp.1306-1313
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• 2018

The randomness and incipient nature of certain faults in reactor systems warrant a robust and dynamic detection mechanism. Existing models and methods for fault diagnosis using different mathematical/statistical inferences lack incipient and novel faults detection capability. To this end, we propose a fault diagnosis method that utilizes the flexibility of data-driven Support Vector Machine (SVM) for component-level fault diagnosis. The technique integrates separately-built, separately-trained, specialized SVM modules capable of component-level fault diagnosis into a coherent intelligent system, with each SVM module monitoring sub-units of the reactor coolant system. To evaluate the model, marginal faults selected from the failure mode and effect analysis (FMEA) are simulated in the steam generator and pressure boundary of the Chinese CNP300 PWR (Qinshan I NPP) reactor coolant system, using a best-estimate thermal-hydraulic code, RELAP5/SCDAP Mod4.0. Multiclass SVM model is trained with component level parameters that represent the steady state and selected faults in the components. For optimization purposes, we considered and compared the performances of different multiclass models in MATLAB, using different coding matrices, as well as different kernel functions on the representative data derived from the simulation of Qinshan I NPP. An optimum predictive model - the Error Correcting Output Code (ECOC) with TenaryComplete coding matrix - was obtained from experiments, and utilized to diagnose the incipient faults. Some of the important diagnostic results and heuristic model evaluation methods are presented in this paper.

• Asian Pacific Journal of Cancer Prevention
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• 제17권3호
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• pp.1019-1022
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• 2016

Background: Diagnostic difficulties in hematological malignancies may lead to unacceptably prolonged help-seeking to diagnostic interval as well as increased complications and poor outcomes. Proactive consultation by a clinical pathologist (PCCP) may help clinical diagnosis and therapeutic strategy. Hence, the aim of this investigation was to evaluate the effect of PCCP on the help-seeking to diagnostic interval in hematological cancer cases. Materials and Methods: From January to November, 2015, abnormal results of hematological laboratory testing with added laboratory comment were selectively screened out, and patients with such abnormalities in hematological laboratory testing and accompanied laboratory comment with PCCP were enrolled. Results: A total of 125 aberrant results of hematological laboratory testing were given with accompanied laboratory comments with PCCP and 40.8% (n=51) of these patient-oriented comments had an effect on clinical diagnosis and therapeutic strategy. Twelve of the subjects belonged to newly diagnosed hematological malignancies with the assistance of PCCP, and the help-seeking to diagnostic interval was also shortened from 42 days to 26 days in chronic lymphoid leukemia (CLL), from 83 days to 11 days in multiple myeloma (MM), and from 128 days to 15 days in myelodysplastic syndrome/myeloproliferative neoplasm (MDS/MPN). During the monitoring interval, neither complication events nor deaths were reported in the study group. Conclusions: It was seemingly that PCCP prevented diagnostic delay in hematological malignancies via shortening the help-seeking to diagnostic interval, particularly in CLL, MM and MDS/MPN cases. PCCP can be considered to play an essential role in prompt establishment of diagnosis in hematological malignancies for those who newly present.