• Molecules and Cells
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• v.23 no.1
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• pp.39-48
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• 2007

Charcot-Marie-Tooth (CMT) disease and hereditary neuropathy with liability to pressure palsies (HNPP) are frequent forms of genetically heterogeneous peripheral neuropathies. Reciprocal unequal crossover between flanking CMT1A-REPs on chromosome 17p11.2-p12 is a major cause of CMT type 1A (CMT1A) and HNPP. The importance of a sensitive and rapid method for identifying the CMT1A duplication and HNPP deletion is being emphasized. In the present study, we established a molecular diagnostic method for the CMT1A duplication and HNPP deletion based on hexaplex PCR of 6 microsatellite markers (D17S921, D17S9B, D17S9A, D17S918, D17S4A and D17S2230). The method is highly time-, cost- and sample-saving because the six markers are amplified by a single PCR reaction and resolved with a single capillary in 3 h. Several statistical and forensic estimates indicated that most of these markers are likely to be useful for diagnosing the peripheral neuropathies. Reproducibility, as determined by concordance between independent tests, was estimated to be 100%. The likelihood that genotypes of all six markers are homozygous in randomly selected individuals was calculated to be $1.6{\times}10^{-4}$, which indicates that the statistical error rate for this diagnosis of HNPP deletion is only 0.016%.

• Journal of Microbiology and Biotechnology
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• v.32 no.1
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• pp.91-98
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• 2022

Tetanus is a potentially fatal public health illness resulted from the neurotoxins generated by Clostridium tetani. C. tetani is not easily culturable and culturing the relevant bacteria from infected wounds has rarely been useful in diagnosis; PCR-based assays can only be conducted at highly sophisticated laboratories. Therefore, a real-time recombinase polymerase amplification assay (Exo-RPA) was constructed to identify the fragments of the neurotoxin gene of C. tetani. Primers and the exo probe targeting the conserved region were designed, and the resulting amplicons could be detected in less than 20 min, with a detection limit of 20 copies/reaction. The RPA assay displayed good selectivity, and there were no cross-reactions with other infectious bacteria common in penetrating wounds. Tests of target-spiked serum and pus extract revealed that RPA is robust to interfering factors and has great potential for further development for biological sample analysis. This method has been confirmed to be reliable for discriminating between toxic and nontoxic C. tetani strains. The RPA assay dramatically improves the diagnostic efficacy with simplified device architecture and is a promising alternative to real-time PCR for tetanus detection.

• Neonatal Medicine
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• v.18 no.2
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• pp.301-309
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• 2011

Purpose: Point-of-care tests (POCTs) have the potential to significantly influence management of neonates. The aim of this study was to assess the clinical usefulness of the POCT chemistry analyzer in a neonatal intensive care unit (NICU). Methods: Blood samples of neonates admitted to the NICU were tested using a POCT chemistry analyzer (Piccolo Xpress Chemistry Analyzer, Abaxis, Union City, CA, USA) and a central laboratory chemical analyzer (Chemistry analyzer 7600-110, Hitachi Ltd., Tokyo, Japan) from March to September, 2010. Correlation of 15 analytes between the POCT and the central laboratory machine was evaluated. For consistency of the POCT, three consecutive samplings were performed. Differences among the three tests were recorded. The causes of performance errors were checked through log files. Results: One hundred of 112 pairs of tests for accuracy performed in 54 neonates showed a high correlation between the two machines. Twelve performance errors occurred during the 112 tests. The most common error was insufficient sample error. Eighteen triplet tests performed in 18 patients for consistency revealed a difference range of 3-10%, which was considered to be acceptable. No error occurred during the 54 tests. Conclusion: The POCT is capable of analyzing multiple analytes with a minimal amount of whole blood in a short time. The few performance errors noted presently are likely preventable. This POCT is concluded to be suitable for use as a simple and rapid diagnostic method in the NICU with a minimal amount of blood collected in a less invasive manner.

• Clinical and Experimental Pediatrics
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• v.49 no.3
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• pp.268-272
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• 2006

Purpose : The reinfection rate of H. pylori reported before $^{13}C$-urea breath test($^{13}C$-UBT) era was higher than that of the post $^{13}C$-UBT era. Children are usually reluctant to receive invasive endoscopic evaluation for the reinfection of H. pylori, particularly when they are asymptomatic. The aim of the study is to discover the reinfection rate by different diagnostic tests, and to find out what causes the difference. Methods : Children confirmed to be eradicated from H. pylori were included in the study. Reinfection was evaluated by endoscopic biopsy based tests(n=34, mean age $11.5{\pm}3.7$ years) and/or a $^{13}C$-UBT(n=38, mean age $10.0{\pm}3.6$ years) at the time of 18 months after eradication. At first visit, H. pylori infection had been diagnosed by positive results from a rapid urease test, Giemsa stain and Warthin-Starry stain and/or a positive culture. Eradication was defined as negative results from all above tests 1-3 months after eradication therapy. Results : Reinfection rate by endoscopic biopsy based tests was 35.3 percent(12/34). All patients had abdominal symptoms(P=0.000). Reinfection rate was 13.2 percent(5/38) by a $^{13}C$-UBT. Reinfection rate was higher in children with abdominal symptoms(P=0.008). There was no evidence that reinfection rate depended on the sex(P=0.694), age(P=0.827), diseases(peptic ulcers vs gastritis, P=0.730) and eradication regimen(P=0.087). Conclusion : Helocibacter pylori reinfection rate in Korean children was 13.2 percent per 18 months by a non-invasive test or $^{13}C$-UBT. Accurate determinations of the reinfection rate in children is affected by the compliance of the diagnostic tests. Non-invasive tests should be considered to investigate the reinfection rate in children.

• The Korean journal of internal medicine
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• v.39 no.3
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• pp.439-447
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• 2024

Background: Helicobacter pylori infection, prevalent in more than half of the global population, is associated with various gastrointestinal diseases, including peptic ulcers and gastric cancer. The effectiveness of early diagnosis and treatment in preventing gastric cancer highlights the need for improved diagnostic methods. This study aimed to develop a simple scoring system based on endoscopic findings to predict H. pylori infection. Methods: A retrospective analysis was conducted on 1,007 patients who underwent upper gastrointestinal endoscopy at Asan Medical Center from January 2019 to December 2021. Exclusion criteria included prior H. pylori treatment, gastric surgery, or gastric malignancies. Diagnostic techniques included rapid urease and ¹³C-urea breath tests, H. pylori culture, and assessment of endoscopic features following the Kyoto gastritis classification. A new scoring system based on endoscopic findings including regular arrangement of collecting venules (RAC), nodularity, and diffuse or spotty redness was developed for predicting H. pylori infection, utilizing logistic regression analysis in the development set. Results: The scoring system demonstrated high predictive accuracy for H. pylori infection in the validation set. Scores of 2 and 3 were associated with 96% and 99% infection risk, respectively. Additionally, there was a higher prevalence of diffuse redness and sticky mucus in cases where the initial H. pylori eradication treatment failed. Conclusions: Our scoring system showed potential for improving diagnostic accuracy in H. pylori infection. H. pylori testing should be considered upon spotty redness, diffuse redness, nodularity, and RAC absence on endoscopic findings as determined by the predictive scoring system.

• Investigative Magnetic Resonance Imaging
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• v.22 no.2
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• pp.94-101
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• 2018

Purpose: To determine the value of the appearance of the high signal intensity halo sign for detecting carotid intraplaque hemorrhage (IPH) on maximum intensity projection (MIP) of time-of-flight (TOF) MR angiography (MRA), based on high signal intensity on magnetization-prepared rapid acquisition with gradient-echo (MPRAGE) sequencing. Materials and Methods: A total of 78 carotid arteries in 65 patients with magnetization-prepared rapid acquisition gradient-echo (MPRAGE) positive on carotid plaque MR imaging were included in this study. High-resolution MR imaging was performed on a 3.0-T scanner prior to carotid endarterectomy or carotid artery stenting. Fast spin-echo T1- and T2-weighted axial imaging, TOF, and MPRAGE sequences were obtained. Carotid plaques with high signal intensity on MPRAGE > 200% that of adjacent muscle on at least two consecutive slices were defined as showing IPH. Halo sign of high signal intensity around the carotid artery was found on MIP from TOF MRA. Continuous and categorical variables were compared among groups using the Mann-Whitney test and Fisher's exact tests. Results: Of these 78 carotid arteries, 53 appeared as a halo sign on the TOF MRA. The total IPH volume of patients with a positive halo sign was significantly higher than that of patients without a halo sign ($75.0{\pm}86.8$ vs. $16.3{\pm}18.2$, P = 0.001). The maximum IPH axial wall area in patients with a positive halo sign was significantly higher than that of patients without a halo sign ($11.3{\pm}9.9$ vs. $3.7{\pm}3.6$, P = 0.000). Conclusion: High signal intensity halo of IPH on MIP of TOF MRA is associated with total volume and maximal axial wall area of IPH.

• KDI Journal of Economic Policy
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• v.14 no.1
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• pp.37-60
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• 1992

This paper applies a Structural VAR approach to a 4 variable system in real GNP, M2, GNP deflator and nominal monthly earnings, disentangling 4 structural shocks, i.e., aggregate demand and supply shocks, wage pushes and various forms of regulations reinforced especially during stabilization process. Preliminary diagnostic tests confirm that the log level of each time series has at least one unit root, though the evidence is somewhat ambiguous for real GNP. One co-integration relationship is found among 4 variables, while no co-integration is found in a subsystem consisting of nomina) variables. The absence of co-integration among nominal variables strongly suggested that money is not neutral even in the long-run. The reduced form is estimated and the structural form is recovered using 6 additional identifying restrictions. Recovered structural shocks are able to capture main episodes of past 20 years, ranging from first and second oil shocks, to strong stabilization policy of early 80's and rapid wage hikes of late 80's. Overall responses of the economy to each structural shock are usually consistent with the standard Keynesian predictions, though some responses seem to be specific to Korean economic environment.

• Maxillofacial Plastic and Reconstructive Surgery
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• v.17 no.4
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• pp.456-461
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• 1995

Tuberculosis, a chronic infectious granulomatous disease, is presumed to be quite a rare entity. Because of the development of chemotherapy and the improvement of nutritional conditions, incidence of tuberculosis have reduced. For these reasons, tuberculosis may be overlooked in the differential diagnosis whenever dealing with a submandibular swelling. Diagnosis of tuberculous lymphadenitis consists of historical data, physical findings, laboratory tests and histologic examination. The treatment of choice seems to be surgical excision and long term antituberculosis chemotherapy. Surgery provides a rapid tissue diagnosis, because the histological examination of the excisional biopsy is the most reliable diagnostic test. This is the report of a case of tuberculous cervical lymphadenitis on left submandibular area with no evidence of the involvement of lung.

• Mass Spectrometry Letters
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• v.3 no.3
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• pp.68-73
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• 2012

Fat malabsorption is an important cause of poor growth in infancy and childhood. Steatorrhea tests have been developed using various methods. Traditional measurements of stool fat, however, require large samples and it often takes as a week to complete the analysis. In this paper, a liquid chromatography-electrospray ionization/mass spectrometry (LC-ESI/MS) method was developed for simultaneous quantitative analysis of triacylglycerols, triolein, diolein and monoolein, in mouse feces. Moreover, the procedure was rapid, simple as well as compatible with LC-ESI/MS. Chloroform-isopropyl alcohol solution was used for fat-soluble sample extraction. After centrifugation and filtration, an analytical solution was prepared. Triolein, diolein and monoolein were separated using non-aqueous reversed-phase column with the mobile phase consisting of A (methanol) and B (acetone-isopropyl alcohol). The precision (% CV) and accuracy (% bias) of the assay were 3.8-14.7% and 85.2-114.9%, respectively. This method has been successfully applied to simultaneous determination of triolein, diolein and monoolein in feces from 30 mice. This method can therefore be applied to measure triacylglycerols in mouse feces accurately and precisely by LC-ESI/MS, thereby helping to predictive biomarker in fat malabsorption and diagnostic research.

• Annals of Clinical Microbiology
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• v.21 no.4
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• pp.69-74
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• 2018

Laboratory medicine is a specialized division that supports physicians in the care of patients by providing rapid and accurate in vitro diagnostic tests. Standardization of every component of a specific test is essential for producing accurate results. The Clinical and Laboratory Standards Institute (CLSI) was founded to develop a formal consensus process for standardization in 1968, and has been publishing standards and guidelines covering all aspects of clinical, research, and other laboratory work. CLSI guidelines are widely used around the world for standardization. The CLSI antimicrobial susceptibility testing subcommittee (AST SC) consists of 6 standing and many ad hoc working groups. Members of the AST SC review submitted proposals and suggestions, decide on approving these submissions in face-to-face meetings held twice a year, and revise CLSI documents accordingly. As these face-to-face meetings are open to anyone who registers to attend, I strongly encourage the members of our Society to attend and actively participate in document development.