• Journal of Genetic Medicine
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• 제2권2호
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• pp.53-57
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• 1998

Spinal muscular atrophy (SMA) type I is a common severe autosomal recessive inherited neuromuscular disorder that has been mapped to chromosome 5q11.2-13.3. The survival motor neuron (SMN) gene, a candidate gene, is known to be deleted in 96% of patients with SMA type I. Presently, PCR and single strand conformation polymorphism (PCR-SSCP) analyses have been made possible for application to both archival slides and paraffin-embedded tissues. Archival materials represent valuable DNA resources for genetic diagnosis. We applied these methods for the identification of SMN gene of SMA type I in archival specimens for the prenatal diagnosis. In this study, we performed the prenatal diagnosis with chorionic villus sampling (CVS) cells on two women who had experienced neonatal death of SMA type I. DNA extraction was done from archival slide and tissue materials and PEP-PCR was performed using CVS cells. In order to identify common deletion region of SMN and neuronal apoptosis-inhibitory protein (NAIP) genes, cold PCR-SSCP and PCR-restriction site assay were carried out. Case 1 had deletions of the exons 7 and 8, and case 2 had exon 7 only on the telomeric SMN gene. Both cases were found to be normal on NAIP gene. These results were the same for both CVS and archival biopsied specimens. In both cases, the fetuses were, therefore, predicted to be at very high risk of being affected and the pregnancy were terminated. These data clearly demonstrate that archival slide and paraffin-embedded tissues can be a valuable source of DNA when the prenatal genetic diagnosis is needed in case any source for genetic analysis is not readily available due to previous death of the fetus or neonate.

• Asian Pacific Journal of Cancer Prevention
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• 제15권13호
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• pp.5487-5492
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• 2014

Ultrasonography is non-invasive and can give useful clues in the diagnosis of cervical lymphadenopathy, However, differential diagnosis is difficult in some situations even combined with color Doppler imaging. The present study was conducted to evaluate the clinical value of real time elastography in patients with unexplained cervical lymphadenopathy using a quantitative method. From May 2011 to February 2012, 39 enlarged lymph nodes from 39 patients with unexplained cervical lymphadenopathy were assessed. All the patients were examined by both B-mode ultrasound, color Doppler flow imaging and elastography. The method of analyzing elasto-graphic data was the calculation of the 10 parametres ("mean", "sd", "area%", "com", "kur", "ske", "con", "ent", "idm", "asm") offered by the software integrated into the Hitachi system. The findings were then correlated with the definitive tissue diagnosis obtained by lymph node dissection or biopsy. Final histology revealed 10 cases of metastatic lymph nodes, 11 cases of lymphoma, 12 cases of tuberculosis and 6 cases of nonspecific lymphadenitis. The significant distinguishing features for conventional ultrasound were the maximum short diameter (p=0.007) and absent of echogenic hilum (p=0.0293). The diagnostic accuracy was 43.6% (17/39 cases) and there were 17 patients with equivocal diagnosis. For elastography, "mean" (p=0.003), "area%" (p=0.009), "kurt" (p=0.0291), "skew" (p=0.014) and "cont" (p=0.012) demonstrated significant differences between groups. With 9 of the 17 patients with previous equivocal diagnoses (52.9%) definite and correct diagnoses could be obtained. The diagnostic accuracy for conventional ultrasound combined elastography was 69.2% (27/39 cases). There were differences in the diagnostic sensitivity of the two methods (p=0.0224). Ultrasound combined with elastography demonstrated higher rates of conclusive and accurate diagnoses in patients with unexplained cervical lymphadenopathy than conventional ultrasound. The quantitative program showed good correlation with the pathology of different lymph node diseases.

• 대한전기학회:학술대회논문집
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• 대한전기학회 2001년도 춘계학술대회 논문집 전력기술부문
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• pp.217-219
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• 2001

This paper presents new diagnosis technique for detecting a partial discharge(PD) using antenna. The wavelet transform is applied for the analysis of PD pulse signal because it is difficult to identify PD signal using electromagnetic waves detected by antenna. The capabilities of the proposed diagnosis methodology for detecting PD signal is verified on experiment in laboratory.

• 한국조명전기설비학회:학술대회논문집
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• 한국조명전기설비학회 2000년도 학술대회논문집
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• pp.89-93
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• 2000

Recently many research activities on the diagnosis of stator winding insulation of large rotating machines have been reported. Capacitive couplers are widely used as sensors for on-line partial discharge (PD) measurement of high voltage rotating machines. This paper presents laboratory test to compare Stator Slot Coupler (SSC), Resistance Temperature Detector (RTD), 80 [pF] coupler and 500 [pF] coupler for on-line PD measurement of rotating machines. And a novel on-line monitoring system for an insulation diagnosis is proposed.

• 한국방송∙미디어공학회:학술대회논문집
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• 한국방송공학회 1997년도 Proceedings International Workshop on New Video Media Technology
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• pp.61-66
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• 1997

For constructing an intelligent multimedia database system for medical diagnosis, we are focusing on two technological points. One is a retrieval algorithm of databases, and the other is a coding algorithm of multimedia contents. For the first, previously we proposed a front-end database preprocessor called“keyword-network”, and in this paper we present its extended model providing an intelligent logical AND searching function especially for medical differential diagnosis. For the second, we present examples of multimedia intellectual coding methods for cardiovascular examination records.

• Journal of Electrical Engineering and information Science
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• 제2권5호
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• pp.45-50
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• 1997

This paper present an advanced fault diagnosis expert system to assist the operators at local control center. The system utilizes all th information available in a local control center for the better diagnostic performance. The major feature of the system is dealing with multiple faults diagnosis based on the certainty factor method for the reasoning process. the overall performance and the generality are also enhanced by utilizing the general topological knowledge. ASCADA simulator is also developed for he test and demonstration.

• Journal of Genetic Medicine
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• 제15권2호
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• pp.55-63
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• 2018

Clinical and genetic heterogeneity in association with overlapping spectrum is characteristic in pediatric neuromuscular disorders, which makes confirmative diagnosis difficult and time consuming. Considering evolution of molecular genetic diagnosis and resultant upcoming genetically modifiable therapeutic options, rapid and cost-effective genetic testing should be applied in conjunction with existing diagnostic methods of clinical examinations, laboratory tests, electrophysiologic studies and pathologic studies. Earlier correct diagnosis would enable better clinical management for these patients in addition to new genetic drug options and genetic counseling.

• Journal of Gastric Cancer
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• 제11권3호
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• pp.141-145
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• 2011

Although the biological potential of gastric epithelial dysplasia (GED) as a precursor of gastric cancer has never been in doubt, the classification of these lesions has been controversial and fraught with marked variations in approach to diagnosis across the world. The complexity of cyto-architectural features has been considered to be of paramount importance for the diagnosis of carcinoma in Japan, while breach of the basement membrane and invasion into the lamina propria has been considered the sine qua non of malignancy and hence a pre-requisite for the diagnosis of cancer in the West. In Korea, although the incidence of gastric cancer is similar to Japan, the diagnostic approach to GED or cancer seems to lie midway between Western and Japanese criteria. In this review, we will discuss the difference in the diagnosis of GED and cancer between two pathologists working in the comprehensive cancer center located in Japan and Korea, one of the most prevalent areas in the world for gastric cancer.

• Journal of Trauma and Injury
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• 제19권1호
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• pp.81-88
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• 2006

Purpose: Pyomyositis is a rare disease in temperature climate region. The diagnosis of pyomyositis is often delayed, and pyomyositis is often misdiagnosed in the emergency department. Methods: The medical records of 11 patients who were diagnosed as having traumatic pyomyositis in the emergency department at Samsung Medical Center in Seoul, Korea, between 2000 and 2006 were reviewed. Their clinical features, such as history, symptoms, clinical findings, duration from onset of symptoms to diagnosis, medical history, laboratory data, results of imaging studies and clinical course were collected. Results: The psoas muscles were most commonly involved. Computer tomography and magnetic resonance imaging aided in accurate diagnosis of the infection and of the extent of involvement. Incision, drainage, and antibiotics therapy eradicated the infectioin in all patients Conclusion: Pyomyositis should be a part of the differential diagnosis for patients with traumatic muscle pain. Radiologic evaluation, such as computer tomography and magnetic resonance imaging, must be considered in the diagnosis of traumatic pyomyositis.

• Annals of Laboratory Medicine
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• 제38권6호
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• pp.610-612
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• 2018