• Journal of Genetic Medicine
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• v.19 no.2
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• pp.76-84
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• 2022

Purpose: Whole-exome sequencing (WES) has been a useful tool for novel gene discovery of various disease categories, further increasing the diagnostic yield. This study aimed to investigate the clinical utility of WES prospectively in undiagnosed genetic diseases. Materials and Methods: WES tests were performed on 110 patients (age range, 0-28 years) with suspected rare genetic diseases. WES tests were performed at a single reference laboratory and the variants reported were reviewed by clinical geneticists, pediatricians, neurologists, and laboratory physicians. Results: The patients' symptoms varied with abnormalities in the head or neck, including facial dysmorphism, being the most common, identified in 85.4% of patients, followed by abnormalities in the nervous system (83.6%). The average number of systems manifesting phenotypic abnormalities per patient was 3.9±1.7. The age at presentation was 2.1±2.7 years old (range, 0-15 years), and the age at WES testing was 6.7±5.3 years (range, 0-28 years). In total, WES test reported 100 pathogenic/likely pathogenic variants or variants of uncertain significance for 79 out of 110 probands (71.8%). Of the 79 patients with positive or inconclusive calls, 55 (50.0%) patients were determined to have good genotype-phenotype correlations after careful review. Further clinical reassessment and family member testing determined 45 (40.9%) patients to have been identified with a molecular diagnosis. Conclusion: This study showed a 40.9% diagnostic yield for WES test for a heterogeneous patient cohort with suspected rare genetic diseases. WES could be the feasible genetic test modality to overcome the diversity and complexity of rare disease diagnostics.

• Tuberculosis and Respiratory Diseases
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• v.45 no.2
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• pp.397-403
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• 1998

Background: Little information is available concerning the value of bronchoscopy in patients with a lymphocytic exudative pleural effusion in which percutaneous pleural biopsy have been regarded as cornerstone in investigating the etiology. Recently, a few reports suggest that bronchoscopy may be more effective diagnostic method in patients with unexplained pleural effusion accompanied by hemoptysis or other roentgenographic abnormalities, such as mass, infiltrate, atelectasis. Method: Mter initial examinations of sputum and pleural fluid through thoracentesis in 112 patients(male 75 cases, female 37 cases, mean age 53.2 years) who were admitted for evaluation of the cause of pleural effusion, we performed bronchoscopy and closed pleural biology in most patients with undiagnosed lymphocytic exudate and compared the diagnostic yield of both invasive methods according to hemoptysis or other roentgenographic abnormalities, and investigated the sole diagnostic contribution of bronchoscopy. Results: Tuberculosis(57 cases, 51%) was the most common cause of pleural effusion. Percutaneous pleural biopsy showed more diagnostic yield than bronchoscopy regardless of presence or absence of other clinical or radiologic abnormalities. In 25 cases with unknown etiology after pleural biopsy, additional diagnostic yield by bronchoscopy was 36 % (4/11) in patients with associated features and only 7 % (1/14) with lone effusion, and, as the sole mean for diagnsosis in all patients with pleural effusion, was only 4.5%(5/12). Conclusion : In a region of high prevalence of tuberculosis as a cause of pleural effusion, percutaneous pleural biospy is more effective method when invasive method is required for confirmative diagnosis of unexplained lymphocytic exudative pleural effusion, and bronchoscopy is unlikely to aid in the diagnosis of lone pleural effusion.

• The Journal of Korean Obstetrics and Gynecology
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• v.32 no.2
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• pp.29-49
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• 2019

Objectives: This study was a methodological study to verify the reliability and validity and to make a diagnosis of a diagnostic tool for climacteric and postmenopausal syndrome pattern identification (CaPSPI). Methods: This study was conducted from June 1, 2018 to October 18, 2018 with ${{\bigcirc}{\bigcirc}}$ University Korean Medicine Hospital IRB's approval (2018-3). To make a diagnosis using CaPSPI, we decided the cut-points for the tool. Three professors of ${{\bigcirc}{\bigcirc}}$Korean Medical University conducted pattern identification diagnosis. The result is marked from 0 to 3, 0 is 'No', 1 is 'Slightly Yes', 2 is 'Yes' and 3 is 'Very Yes'. And if two or more professors' diagnoses are the same, we took the diagnoses as a diagnostic criteria. The decision of pattern by three experts converted to 0-1 scores in two ways. In "method 1", if the diagnosis was zero points, the score was 0 (have no such identification), and the rest was 1 (have such identification). In "method 2", if the diagnosis was zero or 1 point, the score was 0, and the rest was 1. After that, intraclass correlation was calculated for experts agreement. And logistic regression was conducted. A response variable was the results of the experts' diagnosis and an explanatory variable was the results of the pattern identification diagnostic tool. Results: The diagnosis of the three experts showed excellent concordance of more than 0.794 and showed a significant correlation with the diagnostic tool. Both 'Method 1' and 'Method 2' showed statistically significant effects with the diagnosis of 3 experts and the results of the diagnostic tool. The frequency of cumulative pattern identification diagnosis in 'Method 1' and 'Method 2' were found to be 578 occasions and 203 occasions, respectively. The average number of pattern held by participants in 'Method 1' and 'Method 2' were found to be 5.26 and 1.85, respectively. In both "Method 1" and "Method 2," the yield frequency of liver qi depression was the highest, and the frequency of kidney yin deficiency and liver-kidney yin deficiency was relatively high. Conclusions: Based on the above results, it is thought that, in diagnosis using CaPSPI of menopausal women, 'method 1' could be used for the health diagnosis and prevention, 'method 2' could be used for the pattern diagnosis. On the conclusion, CaPSPI is thought to be available for pattern diagnosis of menopause women.

• Journal of Chest Surgery
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• v.29 no.9
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• pp.1036-1039
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• 1996

Pulmonary carcinosarcon!as are rare malignant tumors consisting of an admixture of epithelial and mas- enchymal elements of the type ordinarily seen in malignancies of adults. Compared with all pulmonary neoplasms it occurs with a frequency of 0.3% and has a strong association with smoking. Carcinosarcomas be divided into two clinicopathologic groups based on the locution of the lung: a solid parenchymal type and a central or endobronchial lesion Noninvasive diagnostic tests have a rather low yield in detecting carcinosarcoma. The most frequent metastatic sites are hilar and mediastinal Lymph nodes. Surgical resection is both diagnostic and the initial treatment. The prognosis is poor and average postoperative survival is 9 months. We report one case of pulmonary carcinosarcoma demonstrated by immunohlstochemical staining in a 61 year old male patient with a review of literatures.

• Journal of Bio-Environment Control
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• v.13 no.2
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• pp.96-101
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• 2004

This study was conducted to determine the daily application rate and amount of N and K with fertigation during different growth stages in semi-forcing culture of cucumber plants (Cucumis sativus L. cv. Eunseongbaekdadagi). The diagnostic criteria for N and K also investigated based on petiole sap analysis. The dry weight increased slowly until 30 days after transplanting. The highest dry weights were observed at 60 days after planting, then it decreased. As the plant grew, the contents of N and K in the petiole sap and fruit of cucumber decreased. The daily uptake of N and K were highly correlated with the growing days. The $NO_3$ concentrations in petiole sap were in the range from 3,500 to 4,500 mgㆍ$L^{-1}$ in the early growth stage, but those were in the range from 2,000 to 3,000 mgㆍ$L^{-1}$ after then. However, K concentration in petiole sap were in the rang from 5,000 to 7,000 mgㆍ$L^{-1}$ The fluctuation in petiole sap concentration of K was severe in the monthly fertigation and moderate in the daily fertigation. The fertigation by petiole sap diagnosis forced EC of soil to be low and yield to increase compared to the control.

• Journal of Computing Science and Engineering
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• v.8 no.2
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• pp.119-128
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• 2014

The appearance of retinal blood vessels is an important diagnostic indicator of serious disease, such as hypertension, diabetes, cardiovascular disease, and stroke. Automatic segmentation of the retinal vasculature is a primary step towards automatic assessment of the retinal blood vessel features. This paper presents an automated method for the enhancement and segmentation of blood vessels in fundus images. To decrease the influence of the optic disk, and emphasize the vessels for each retinal image, a multidirectional morphological top-hat transform with rotating structuring elements is first applied to the background homogenized retinal image. Then, an improved multiscale line detector is presented to produce a vessel response image, and yield the retinal blood vessel tree for each retinal image. Since different line detectors at varying scales have different line responses in the multiscale detector, the line detectors with longer length produce more vessel responses than the ones with shorter length; the improved multiscale detector combines all the responses at different scales by setting different weights for each scale. The methodology is evaluated on two publicly available databases, DRIVE and STARE. Experimental results demonstrate an excellent performance that approximates the average accuracy of a human observer. Moreover, the method is simple, fast, and robust to noise, so it is suitable for being integrated into a computer-assisted diagnostic system for ophthalmic disorders.

• Tuberculosis and Respiratory Diseases
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• v.87 no.2
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• pp.194-199
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• 2024

Background: In recent years, medical thoracoscopy has been well established to play an important role in undiagnosed pleural effusion; however, this procedure is underutilized due to limited availability of the instruments it requires. This study analysed the outcome of single port rigid thoracoscopy in patients with undiagnosed pleural effusions. Methods: This study retrospectively analysed the outcomes of all patients with undiagnosed pleural effusion presenting to our centre between 2016 to 2020 who underwent single port rigid medical thoracoscopy as a diagnostic procedure. Results: In total, 92 patients underwent single port rigid medical thoracoscopy. The most common presenting symptom was shortness of breath. A majority of the patients had lymphocytic exudative pleural effusion. The average biopsy sample size was 18 mm, and no major complication was reported in any of the patients. Conclusion: Single port rigid thoracoscopy is a safe and well-tolerated procedure that yields a biopsy of a larger size with high diagnostic yield. Moreover, the low cost of the instruments required by this procedure makes it particularly suited for use in developing countries.

• Asian Pacific Journal of Cancer Prevention
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• v.15 no.21
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• pp.9101-9105
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• 2014

Background: The purpose of this study was to compare the accuracy and effectiveness of automated breast volume scanning (ABVS) and hand-held ultrasound (HHUS) in the detection of breast cancer in a large population group with a long-term follow-up, and to investigate whether different ultrasound systems may influence the estimation of cancer detection. Materials and Methods: Institutional review board approval was obtained for this retrospective study, and informed consent was waived. From September 2010 to August 2011, a total of 1,866 ABVS and 3,700 HHUS participants, who underwent these procedures at our institute, were included in this study. Cancers occurring during the study and subsequent follow-up were evaluated. The reference standard was a combination of histology and follow-up imaging (${\geq}12months$). The recall rate, cancer detection yield, diagnostic accuracy, sensitivity, specificity, and positive (PPV) and negative (NPV) predictive values were calculated with exact 95% confidence intervals. Results: The recall rate was 2.57 per 1,000 (48/1,866) for ABVS and 3.57 per 1,000 (132/3,700) for HHUS, with a significant difference (p=0.048). The cancer detection yield was 3.8 per 1,000 for ABVS and 2.7 per 1,000 for HHUS. The diagnostic accuracy was 97.7% for ABVS and 96.5% for HHUS with statistical significance (p=0.018). The specificity of ABVS and HHUS were 97.8%, 96.7%, respectively (p=0.022). Conclusions: ABVS shows a comparable diagnostic performance to HHUS. ABVS is an effective supplemental tool for mammography in breast cancer detection in a large population.

• The Plant Pathology Journal
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• v.38 no.6
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• pp.656-664
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• 2022

Pectobacterium odoriferum is the primary causative agent in Kimchi cabbage soft-rot diseases. The pathogenic bacteria Pectobacterium genera are responsible for significant yield losses in crops. However, P. odoriferum shares a vast range of hosts with P. carotovorum, P. versatile, and P. brasiliense, and has similar biochemical, phenotypic, and genetic characteristics to these species. Therefore, it is essential to develop a P. odoriferumspecific diagnostic method for soft-rot disease because of the complicated diagnostic process and management as described above. Therefore, in this study, to select P. odoriferum-specific genes, species-specific genes were selected using the data of the P. odoriferum JK2.1 whole genome and similar bacterial species registered with NCBI. Thereafter, the specificity of the selected gene was tested through blast analysis. We identified novel species-specific genes to detect and quantify targeted P. odoriferum and designed specific primer sets targeting HAD family hydrolases. It was confirmed that the selected primer set formed a specific amplicon of 360 bp only in the DNA of P. odoriferum using 29 Pectobacterium species and related species. Furthermore, the population density of P. odoriferum can be estimated without genomic DNA extraction through SYBR Green-based real-time quantitative PCR using a primer set in plants. As a result, the newly developed diagnostic method enables rapid and accurate diagnosis and continuous monitoring of soft-rot disease in Kimchi cabbage without additional procedures from the plant tissue.

• Journal of Microbiology and Biotechnology
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• v.16 no.7
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• pp.1026-1031
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• 2006

The optimization of the production of a fusion protein containing the antigenic domain 1 (AD-1) is of a great importance, considering its use in diagnostic tests. The fusion protein is produced by the fermentation of a recombinant strain of Escherichia coli containing the plasmid Mbg58, which expresses the AD-1 (aa 484-650) of human cytomegalovirus glycoprotein B as a fusion protein together with aa 1-375 of ${\beta}-galactosidase$. An important characteristic of promoters (lac and derivatives) used in recombinant protein production in E. coli is their inducibility. Induction by IPTG is widely used for basic research; however, its use in large-scale production is undesirable because of its high cost and toxicity. In this work, studies using different inducers and carbon sources for the production of a fusion protein containing the AD-l were performed. The results showed that lactose could be used as an inducer in the fermentation process for the production of this protein, and that expression levels could exceed those achieved with IPTG. The use of lactose for protein expression in E. coli should be extremely useful for the inexpensive, large-scale production of heterologous proteins in E. coli. Addition of sucrose to the fermentation medium improved the yield of recombinant protein, whereas addition of fructose or trehalose decreased the yield.