The Human gene testing act (GenDG) in Germany starts from the characteristic features of gene testing, i.e. dualisting structure consisted of anlaysis on the one side and the interpretation on the other side. The linguistic distincion of 'testing', 'anlaysis' and 'judgment' in the act is a fine example. Another important basis of the regulation is the ideological purpose of the law, that is information autonomy. The normative texts as such and the founding principle are the basis of the classification of testing types. Especially in the case of gene testing for medical purpose is classified into testing for diagnostic purpose and predictive purpose. However, those two types are not always clearly differentiated because the predictive value of testing is common in both types. In the legal regulation of gene testing it is therefore important to manage the uncertainty and subjectivity which are inherent in the gene-analysis and the judgment. In GenDG the system ensuring the quality of analysis is set up and GEKO(Commity for gene tisting) based on the section 23 of GenDG concretes the criterium of validity through guidelines. It is also very important in the case of gene testing for medical purpose to set up the system for ensurement of procedural rationality of the interpretation. The interpretation of the results of analysis has a wide spectrum because of the consistent development of technology on the one side and different understandings of different subjects who performs gene testings. Therefore the process should include the communication process for patients in oder that he or she could understand the meaning of gene testing and make plans of life. In GenDG the process of genetic counselling and GEKO concretes the regulation very precisely. The regulation as such in GenDG seems to be very suggestive to Korean legal polic concerning the gene testing.
Park, Hee-Won;Shin, Hee-Jung;Kim, Tae-Hoon;Noh, Gyeong-Woon;Kim, Hyun-Joo
The Korean Journal of Nuclear Medicine Technology
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v.13
no.3
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pp.175-180
/
2009
Purpose: Detection of TSH-binding inhibitor immunoglobulin (TBII) in patients with hyperthyroidism is an important result of Graves' disease (GD) and hyperthyroidism treatment. This has been made out an inspection by commercial radio-receptor assays. To increase the sensitivity and the specificity of the assay, many results of the assay were reported. In this study we evaluated the clinical usetulness of TBII assays by the Comparative method. Material and Methods: We were measured by using healthy control group (n=30, male=20, female=10) of Seoul National University Hospital Healthcare System Gangnam Center from January to March in 2009. Similarly, We were measured by using hyperthyroid (TSH<$0.05\;{\mu}IU/mL$, FT4>1.80 ng/dL) experimental group (n=58, male=14, female=44) of division of endocrinology and metabolism department of internal medicine Seoul National University Hospital from January to March in 2009. We made a comparative study of each two assays from the first generation to the third generation. We were used of TSAb assay as a measurement of GD diagnostic technique. Results: The specificity of healthy control group was 100% according to the generation. (Specificity=100%, n=30) The sensitivity of hyperthyroid experimental group were the first generation RSR<%> (79.3%, n=58), RSR (51.7%, n=58), the second generation RSR-CT (93.1%, n=58), BRAHMSCT (98.3%, n=58), the third generation ELISA (94.6%, n=56), ECLIA (97.7%, n=58) and TS-Ab<%> (93.5%, n=46). Conclusion: We were used of TSAb assay as a measurement of GD diagnostic technique, The result of data showed a high correlation between the third generation TBII assay and the second generation TBII assay ($R^2$=0.923). Instead of the first generation assay, the second generation assay can be more useful in clincal diagnosis.
Among the various diagnostic methods for the voice disorders, video laryngo-stroboscopy is one of the most practical techniques for clinical examination of the vocal fold vibration. It provides valuable informations about the nature of vocal folds' vibration, the extent of pathologic change and data recording for analysis. To obtain the stroboscopic characteristics of several voice disorders, and apply those informations to the diagnosis and management of disorders, we reviewed the stroboscopic findings obtained from the patients with voice disorders at Voice laboratory, the Institute of Logopedics and Phoniatrics form April 1992 to March 1993.
Lee, Jin Beom;Lee, Yong Soon;Yoo, Eun Sun;Kim, Hae Soon;Son, Se Jeong;Park, Eun Ae;Lee, Seung Joo;Sung, Sun Hee;Seo, Jeong Wan
Clinical and Experimental Pediatrics
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v.45
no.4
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pp.466-472
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2002
Purpose : The diagnosis of Meckel's diverticulum is difficult and delayed because it presents with various clinical symptoms. We evaluated clinical, imaging and pathologic findings of Meckel's diverticulum to facilitate detection of Meckel's diverticulum in children. Methods : Review of clinical, imaging, surgical and pathological findings in 10 children aged 7 days to 14 years with Meckel's diverticulum during an 8-year period, 1993-2001, at Ewha Womans University Hospital was undertaken. Results : The male to female ratio was 2.3 : 1. The chief complaint was painless lower gastrointestinal( GI) bleeding; others were abdominal pain, abdominal distention and vomiting, in order of frequency. The diagonsis before surgery were Meckel's diverticulum in 5 patients, non-reducible intussusception in 3 patients and intestinal obstruction in 2 patients. The diverticulum was located between 35 cm to 70 cm proximal to the ileocecal valve. The length of the diverticulum ranged from 4 cm to 12 cm and 80% of it was within 5 cm. A Meckel scan($^{99m}Tc-pertechnetate$ scintigraphy) after cimetidine administration was done in 6 cases. All 5 cases that presented with lower GI bleeding had ectopic gastric mucosa confirmed on pathology. Out of 5 cases of ectopic gastric mucosa, only 4 cases were positive on the Meckel's scan. Conclusion : In cases of unexplained GI bleeding, obstruction, or inflammation diagnostic workup should be carried out to rule out Meckel's diverticulum. Laparoscopy, high resolution ultrasonography and computed tomography of the abdomen may be indicated in the assessment of pediatric patient with lower GI bleeding, especially in patients with suspected bleeding from Meckel's diverticulum showing negative Meckel's scan.
Kim, Kyeong-Ah;Kang, Eun-Young;Oh, Yu-Whan;Kim, Jeung-Sook;Park, Jai-Soung;Lee, Kyung-Soo;Kang, Kyung-Ho;Chung, Kyoo-Byung
Tuberculosis and Respiratory Diseases
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v.43
no.3
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pp.388-402
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1996
Background : To compare the diagnostic accuracies of High-resolution CT(HRCI) and chest radiography in the diagnosis of diffuse infiltrative lung disease(DILD). Methods : This study included ninety-nine patients with a diagnosis of acute or chronic DILD, representing 20 different diseases. Twelve normal subjects were included as control. The disease state was confirmed either pathologically or clinically. Radiographs and CT scans were evaluated separately by three independent observers without knowledge of clinical and pathologic results. The observers listed three most likely diagnoses and recorded degree of confidence. Results : The sensitivity of HRCT in the detection of DILD was 98.9% compared to 97.9% of chest radiography. Overall, a correct first-choice diagnosis was made in 48% using chest radiographs and in 60% using HRCT images. The correct diagnosis was among the top-three choices in 64% when chest radiographs were used, and in 75% when HRCT images were reviewed. Overally a confident diagnosis was reached more often with HRCT(55%) than with chest radiography(26%). The correct first-choice diagnosis increased remarkably when the HRCT was used in usual interstitial pneumonia, miliary tuberculosis, diffuse panbronchiolitis and lymphangitic carcinomatosis. Conclusion : HRCT is confirmed to be superior to conventional radiography in the detection and accurate diagnosis of DILD. HRCT is especially valuable in the diagnosis of usual interstitial pneumonia, miliary tuberculosis, diffuse panbronchiolitis, and lymphangitic carcinomatosis.
Tuberculosis continues to cause an unacceptably high toll of disease and death among children worldwide. Whereas intense scientific and clinical research efforts into novel diagnostic, therapeutic, and preventive interventions have focused on tuberculosis in adults, childhood tuberculosis has been relatively neglected. However, children are particularly vulnerable to severe disease and death following infection, and those with latent infection become the reservoir for future transmission following disease reactivation in adulthood, fuelling future epidemics. Therefore, it is very important to understand the significance, diagnosis and treatment of latent tuberculous infection to decrease a future disease burden of tuberculosis. Unfortunately, these concept still have not fully implicated in Korean National Tuberculosis Control Program, it should be engaged and enforced as soon as possible.
Kim, Chong Kyung;Song, Ha Do;Cho, Dong Il;Yoo, Nam Soo
Tuberculosis and Respiratory Diseases
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v.64
no.6
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pp.414-421
/
2008
Background: Recently, in addition to multi-drug resistant tuberculosis (MDR-TB), extensively drug-resistant tuberculosis (XDR-TB) has become rapidly growing public health threat. This study examined the clinical differences between pulmonary TB patients with extensively drug resistance (XDR) and multi-drug resistance (MDR) at the National Medical Center in Korea in order to determine the clinical characteristics associated more with XDR-TB than MDR-TB. Methods: Patients who received a diagnosis of culture-confirmed pulmonary TB and a drug sensitivity test (DST) for anti-TB drugs at the National Medical Center between January 2000 and August 2007 were enrolled in this study. The patients were identified into the XDR-TB or MDR-TB group according to the DST results. The clinical characteristics were reviewed retrospectively from the medical records. Statistical analysis for the comparisons was performed using a ${\chi}^2$-test, independent samples t-test or binary logistic regression where appropriate. Results: A total 314 patients with culture-confirmed pulmonary TB were included. Among them, 18 patients (5.7%) had XDR-TB and 69 patients (22%) had MDR-TB excluding XDR-TB. A comparison of the clinical characteristics, revealed the XDR-TB group to have a higher frequency of a prior pulmonary resection for the treatment of TB (odds ratio [OR], 3.974; 95% confidence interval [CI], 1.052~15.011; P value 0.032) and longer average previous treatment duration with anti-TB drugs, including a treatment interruption period prior to the diagnosis of XDR, than the MDR-TB group (XDR-TB group, 72.67 months; MDR-TB group, 13.09 months; average treatment duration difference between two groups, 59.582 months; 95% CI, 31.743~87.420; P value, 0.000). In addition, a longer previous treatment duration with anti-TB drugs was significantly associated with XDR-TB (OR, 1.076; 95% CI, 1.038~1.117; P value, 0.000). A comparison of the other clinical characteristics revealed the XDR-TB group to have a higher frequency of male gender, diabetes mellitus (DM), age under 45, treatment interruption history, cavitations on simple chest radiograph and positive result of sputum AFB staining at the time of diagnosis of XDR. However, the association was not statistically significant. Conclusion: Pulmonary TB patients with XDR have a higher frequency of a prior pulmonary resection and longer previous treatment duration with anti-TB drugs than those with MDR. In addition, a longer previous treatment duration with anti-TB drugs is significantly associated with XDR-TB.
Chung, Jae Ho;Choi, Jeong Eun;Park, Moo Suk;Kim, Young Sam;Chang, Joon;Kim, Sung Kyu;Kim, Se Kyu
Tuberculosis and Respiratory Diseases
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v.56
no.4
/
pp.374-380
/
2004
Although exophytic endobronchial lesions can readily be diagnosed by routine forceps biopsy through the fiberoptic bronchoscope, submucosal or peribronchial tumor can be difficult to diagnose. So we evaluated the diagnostic utility of transbronchial needle aspiration (TBNA) through the fiberoptic bronchoscope in patients presenting with endoscopic abnormalities suggestive of submucosal or peribronchial tumor. Patients and Methods : Retrospective review of 120 lung cancer patients who were found to have the lesions suggestive of peribronchial and submucosal tumor during fiberoptic bronchoscopy was performed from Jan. 1994 to Dec. 2002 at Severance Hospital, Yonsei University College of Medicine. Results : Forcep biopsy was positive in 63 cases (52.5%) and TBNA in 91 (75.8%), which was significantly better than forcep biopsy (p=0.001). The combination of forceps biopsy and TBNA was positive in 106 cases (88.3%), which was significantly better than forceps biopsy alone (p=0.0001). The difference of TBNA yield according to cell type or bronchoscopic appearance of lesion was not significant, but it showed the relatively better result in small cell carcinoma. Conclusions : We concluded that TBNA significantly increase the yield over forcep biopsy alone in the detection of submucosal or peribronchial bronchogenic carcinoma.
Corona-19, a disease caused by 'Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2)', was declared a global pandemic by the World Health Organization (WHO) in March 2020, and a real-time polymerase chain reaction test is performed as a diagnostic test for screening and confirmation in most countries. However, not only the target genes and protocols differ by countries, but also the procedures for reading the diagnosis results are diverse, so the criteria for confirmed patients differ by country. Therefore, in this review, we discussed the target genes, test techniques, and diagnostic criteria for each country notified by WHO. And the specificity and sensitivity, limits of detection, positive and negative controls, false positive bacteria candidates, and specimens, and the specifics of the control setting were also described. In addition, the characteristics of Korea's test were compared to each country's one. Finally, in order to obtain the same diagnosis result for SARS-CoV-2 in the future, standardized diagnosis methods and result interpretations for Corona-19 diagnosis were proposed.
Journal of the Korean Society of Laryngology, Phoniatrics and Logopedics
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v.14
no.1
/
pp.16-25
/
2003
Background and Objectives : Electroglottography(EGG) is a non-invasive method of monitoring the vocal cord vibration by measuring the variation of physiological impedance across the vocal folds through the neck skin. It reveals especially the vocal fold contact area and is widely used for basic laryngeal researches, voice analysis and synthesis. The purpose of this study is to investigate the effectiveness of EGG parameters in differential diagnosis of laryngeal cancer. Materials and Methods : The author investigated 10 laryngeal cancer and 25 benign laryngeal disease patients who visited at the Department of Otolaryngology, Pusan National University Hospital. The EGG equipment was devised in the author's Department. Among various parameters of EGG, closed quotient(CQ), speed quotient(SQ), speed index(SI), Jitter, Shimmer, Fo were determined by an analysis program made with MATLAB 6.5$^{\circledR}$(Mathwork, Inc.). In order to differentiate various laryngeal diseases from pathologic voice signals, the author has used the electroglottographic parameters using the neural network of multilayer perceptron structure. Results : SQ, SI, Jitter and Shimmer values except those of CQ and Fo showed remarkable differences between benign and malignant laryngeal disease groups. From the artificial neural network, the percentage of differentiating the laryngeal cancer was over 80% in SQ, SI, Jitter, Shimmer except for CQ and Fo. These results indicated that it is possible to discriminate the benign and malignant laryngeal diseases by EGG parameters using the artificial neural network. Conclusion : If parameters of EGG which can reveal for the pathology of laryngeal diseases are additionally developed and the current classification algorithm is improved, the discrimination of laryngeal cancer will become much more accurate.
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