• 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.

• Biomolecules & Therapeutics
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• v.31 no.6
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• pp.674-681
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• 2023

Bile pigment, bilirubin, and biliverdin concentrations may change as a results of biliary tract cancer (BTC) altering the mechanisms of radical oxidation and heme breakdown. We explored whether changes in bile pigment components could help distinguish BTC from benign biliary illness by evaluating alterations in patients with BTC. We collected bile fluid from 15 patients with a common bile duct stone (CBD group) and 63 individuals with BTC (BTC group). We examined the bile fluid's bilirubin, biliverdin reductase (BVR), heme oxygenase (HO-1), and bacterial taxonomic abundance. Serum bilirubin levels had no impact on the amounts of bile HO-1, BVR, or bilirubin. In comparison to the control group, the BTC group had considerably higher amounts of HO-1, BVR, and bilirubin in the bile. The areas under the curve for the receiver operating characteristic curve analyses of the BVR and HO-1 were 0.832 (p<0.001) and 0.891 (p<0.001), respectively. Firmicutes was the most prevalent phylum in both CBD and BTC, according to a taxonomic abundance analysis, however the Firmicutes/Bacteroidetes ratio was substantially greater in the BTC group than in the CBD group. The findings of this study showed that, regardless of the existence of obstructive jaundice, biliary carcinogenesis impacts heme degradation and bile pigmentation, and that the bile pigment components HO-1, BVR, and bilirubin in bile fluid have a diagnostic significance in BTC. In tissue biopsies for the diagnosis of BTC, particularly for distinguishing BTC from benign biliary strictures, bile pigment components can be used as additional biomarkers.

• Journal of the Korean Society of Radiology
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• v.83 no.1
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• pp.3-27
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• 2022

Cardiac CT has been proven to provide diagnostic and prognostic evaluation of coronary artery disease for cardiovascular risk stratification and treatment decision-making based on rapid technological development and various research evidence. Coronary CT angiography has emerged as a gateway test for coronary artery disease that can reduce invasive angiography due to its high negative predictive value, but the diagnostic specificity is relatively low. However, coronary CT angiography is likely to overcome its limitations through functional evaluation to identify the hemodynamic significance of coronary artery disease by analyzing myocardial perfusion and fractional flow reserve through cardiac CT. Recently, studies have been actively conducted to incorporate artificial intelligence to make this more objective and reproducible. In this review, functional imaging techniques of cardiac computerized tomography are explored.

• Journal of the Korean Society of Radiology
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• v.85 no.2
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• pp.258-269
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• 2024

Treatment of patients with coronary artery disease commonly involves the use of balloon-expandable stent placements, currently recognized as the most prevalent approach for coronary artery revascularization. Nevertheless, the occurrence of restenosis remains a significant complication following percutaneous coronary interventions. The diagnostic role of coronary CT angiography (CCTA) in detecting stent restenosis has limitations primarily attributable to challenges in accurately discerning the lumen, due to issues such as blooming and motion artifacts. As a result, many cases often necessitate a transition to conventional coronary angiography. However, recent advancements in CT technology have led to notable improvements in both sensitivity and specificity, underscoring the growing significance of CCTA as a diagnostic tool. The consistent reporting of high negative predictive value is particularly noteworthy. This review aims to explore the historical context, current status, and recent trends in diagnosing coronary artery stent restenosis using CCTA.

• Maxillofacial Plastic and Reconstructive Surgery
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• v.32 no.1
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• pp.27-31
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• 2010

Purpose of study: The purpose of this study was to provide adequate diagnostic guideline for the maxillary sinuses prior to dental implant treatment for edentulous posterior maxillary areas. For this purpose, our procedure involves the estimation of the remaining alveolar bone height, the examination of the anatomical variation in the maxillary sinuses (e.g. sinus septum), and the evaluation of the incidence of preoperative pathological conditions in the maxillary sinuses. Materials and Methods: We selected 189 patients to undergo computerized tomography (CT) in order to account for the posterior maxillary anatomy found in patients of Korean ethnicity. We evaluated the following using Dentascan software: Remaining alveolar bone height, incidence of sinus septum, and rate of preoperative pathologic conditions in the maxillary sinus. The average amount of remaining alveolar bone height was analyzed using the student's t-test for differences according to anatomical site, and the ANOVA was used for the differences according to age group with the level of significance set at 0.05. Results: Alveolar bone heights of upper first premolar, second premolar, first molar, and second molar was 12.24 mm, 10.37 mm, 7.16 mm, and 7.15 mm, respectively with statistical significance (P < 0.05). Incidence of sinus septum as an anatomic variation was 17 out of 189 cases (9.0%). Incidence of mucosal thickening as a pathologic variation was 82 out of 189 cases (43.4%). Conclusion: In treatment planning of posterior maxillary edentulous area of Koreans, the consideration of augmentation surgery for maxillary sinus is required in maxillary molar area before dental implant installation, and preoperative screening of the asymptomatic maxillary sinuses can be regarded as a reasonable preoperative procedure in the planning of dental implant treatment on the posterior maxillary edentulous area.

• Journal of Gastric Cancer
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• v.18 no.3
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• pp.218-229
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• 2018

Purpose: This study investigated whether the metabolic avidity of primary tumors and/or metastatic lymph nodes (LNs) measured by $^{18}F$-fluorodeoxyglucose ($^{18}F-FDG$) positron emission tomography/computed tomography (PET/CT) was related to survival after surgery in patients with advanced gastric cancer (AGC). Materials and Methods: One hundred sixty-eight patients with AGC who underwent preoperative $^{18}F-FDG$ PET/CT and curative resection were included. The $^{18}F-FDG$ avidity of the primary gastric tumor and LNs was determined quantitatively and qualitatively. The diagnostic performance of $^{18}F-FDG$ PET/CT was calculated, and the prognostic significance of $^{18}F-FDG$ avidity for recurrence-free survival (RFS) and overall survival (OS) was assessed. Results: In all, 51 (30.4%) patients experienced recurrence, and 32 (19.0%) died during follow-up (median follow-up duration, 35 months; range, 3-81 months); 119 (70.8%) and 33 (19.6%) patients showed $^{18}F-FDG$-avid primary tumors and LNs, respectively. $^{18}F-FDG$ PET/CT showed high sensitivity (73.8%) for the detection of advanced pathologic T ($pT{\geq}3$) stage and high specificity (92.2%) for the detection of advanced pN (${\geq}2$) stage. $^{18}F-FDG$ avidity of LNs was significantly associated with RFS (P=0.012), whereas that of primary tumors did not show significance (P=0.532). Univariate and multivariate analyses revealed that $^{18}F-FDG$ avidity of LNs was an independent prognostic factor for RFS (hazard ratio=2.068; P=0.029). Conclusions: $^{18}F-FDG$ avidity of LNs is an independent prognostic factor for predicting RFS. Preoperative $^{18}F-FDG$ PET/CT can be used to determine the risk and prognosis of patients with AGC after curative resection.

• Proceedings of the KIEE Conference
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• 2006.10c
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• pp.232-234
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• 2006

Diabetic neuropathy is one of the most common diabetic complications. In clinical practices, nerve conduction velocity (NCV) has been used as a standard method for diagnosing diabetic neuropathy. However, it applies maximum of 100mA electric stimulus to nerves causing stress and pain to patients. In this study. as a non-invasive method, $TcpO_2$ was utilized to investigate the difference and relationship between $TcpO_2$ and $SpO_2$ of normal and diabetic neuropathy subjects. In addition, a new method of diagnosing diabetic neuropathy using $TcpO_2$ is suggested. 50 normal subjects and 50 diabetic patients with neuropathy diagnosed by NCV participated in this study. Parameters used in this study were $TcpO_2,\;TcpCo_2$, and $SpO_2$. As a result of the $TcpO_2$ measurements, statistical significances were found from $TcpO_2$ of hands and feet from normal and patients group (p<0.01). $SpO_2$ measured from index finger of normal and patient groups showed no statistical significance (p>0.05). On the other hand, $SpO_2$ measured from great toes of normal and patient group showed statistical significance (p<0.01). Correlation coefficient between $SpO_2$ of finger and $TcpO_2$ of hand was 0.400 (p<0.01) and $SpO_2$ of toe and $TcpO_2$ of foot was 0.471 (p<0.01). Both correlation values were statistically significant. Sensitivities and specificities of the $TcpO_2$ method were found to be 66 % and 92 %, respectively. If suggested $TcpO_2$ method is used periodically. prevention and early diagnosis of diabetic neuropathy is possible.

• Journal of Korean Society on Water Environment
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• v.32 no.3
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• pp.318-324
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• 2016

The significance of an integrated environmental management system implementation can be summarized into three sections. The first is that the paradigm of a permit system will be changed from the existing media-specific permits to cross-media permits. In the near future, the cross-media license will be granted based on the diagnostic results of the plant. The second is that it will be established through a social concensus, i.e., consultations with stakeholders and direct participation in the system design process of stakeholders. The third is that it will have flexibility in its operating system. In the near future, it will be possible to management an environment through its industrial workplace itself and determine if emission standards are being complied with or not through statistical methods. In addition there is also an urgent need for complementary parts in order to enhance the driving force of the integrated environmental management system which is based on transparency, reliability and flexibility. In other words, it is necessary to continuously promote in order to diffuse consensus and increase an understanding of implementation through an integrated environmental management system. It is also necessary to establish a new organization and educate authorized representatives so that they have the tools to smoothly perform the system.

• The Journal of Internal Korean Medicine
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• v.25 no.4
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• pp.158-166
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• 2004

Background & Object : The aim of this study was to investigate the usefulness of electrogastrography in the diagnosis field of traditional medicine through a study of the relationship between gastric motility and health condition based on oriental medicine diagnostic theory in functional dyspepsia. Method : 86 patients (male 27, female 59) with functional dyspepsia and 10 healthy control subjects (male 5, female 5) were involved in the investigation. The disease information of functional dyspepsia (based on Rome criteria II) was used for dyspeptic index and scores were obtained from the comprehensive diagnosis of Qui, Xue, Shui was applied as index for health condition, those were all investigated by questionnaire. Gastric motility were recorded and analyzed using electrogastrography in fasting and postprandial period. Results : The total score of comprehensive diagnosis of Qui Xue Shui was influenced by the number of functional dyspepsia symptoms (p=0.026). In terms of electrogastrographical parameters, both postpranial normal slow waves regularity(p=0.003) and power ratio (p=0.001) in the patients had the statistical significance and they showed an incremental inverse correlation with the number of symptoms. Dominant frequency and fasting normal slow waves regularity ratio had no statistical significance. Conclusion : Results suggest that electrogastrography is useful in evaluating the health condition of patient by comprehensive diagnosis of Qui Xue Sui.

• The Korean Journal of Nuclear Medicine
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• v.25 no.1
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• pp.87-94
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• 1991

To evaluate the diagnostic usefulness of quantitative sacroiliac joint scintigraphy and its clinical significance in the ankylosing spondylitis, we measured SIS ratio (Sacroiliac Joint/Sacrum Uptake ratio) by region of interest method in 52 patients with ankylosing spondylitis. As compared with radiological grade, SIS ratio was significantly elevated in the early stage of ankylosing spondylitis and returned to normal range in the late stage. Scintigraphic finding of focal uptakes of radiotracer at multiple spinal apophyseal joints was characteristic and proximal large joints were more involved than distal joints. The incidence and extent of the arthropathy revealed by scnitigraphy exceeded that which was clinically evident, and scintigraphy was more sensitive to detect symptomatic lesion than radiography. Therefore, it is suggested that bone scan is useful for the early diagnosis and the assessment of clinical activity of involved joints of ankylosing spondylitis.