• 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.

• Korean Journal of Clinical Laboratory Science
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• v.53 no.1
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• pp.1-10
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• 2021

Radiopharmaceuticals are drugs that contain radioisotopes and are used in the diagnosis, treatment, or investigation of diseases. Radiopharmaceuticals must be manufactured in compliance with good manufacturing practice regulations and subjected to quality control before they are administered to patients to ensure the safety of the drug. Radiopharmaceuticals for administration to humans need to be sterile and pyrogen-free. Hence, sterility tests and membrane filter integrity tests are carried out to confirm the asepticity of the finished drug product, and a bacterial endotoxin test conducted to assess contamination, if any, by pyrogens. The physical appearance and the absence of foreign insoluble substances should be confirmed by a visual inspection. The chemical purity, residual solvents, and pH should be evaluated because residual by-products and impurities in the finished product can be harmful to patients. The half-life, radiochemical purity, radionuclidic purity, and strength need to be assessed by analyzing the radiation emitted from radiopharmaceuticals to verify that the radioisotope contents are properly labeled on pharmaceuticals. Radiopharmaceuticals always carry the risk of radiation exposure. Therefore, the time taken for quality control tests should be minimized and care should be taken to prevent radiation exposure during handling. This review discusses the quality control procedures and acceptance criteria for a diagnostic radiopharmaceutical.

• The Korean Journal of Nuclear Medicine
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• v.35 no.2
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• pp.100-112
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• 2001

Purpose: The purpose of this study was to establish optimal imaging acquisition conditions for the GE $Advance^{TM}$ PET imaging system by performing the acceptance tests designed by National Electrical Manufacturers Association (NEMA) protocol and General Electric Medical Systems (GEMS) test procedures. Materials and Methods: Performance tests were carried out with $^{18}FDG$ radioactivity source and phantoms by using a standard acquisition mode. Transaxial resolution and scatter traction tests were performed with a line source and axial resolution with a point source, respectively. A cylindrical phantom made of polymethylmethacrylate (PMMA) was used to measure sensitivity, count rate losses and randoms, uniformity correction, and attenuation inserts were added to measure remaining tests. The test results were acquired in a diagnostic acquisition mode and analyzed mainly on high sensitivity mode. Results: Transaxial resolution and axial resolution were measured as average of 4.65 mm and 3.98 mm at 0 cm, and 6.02 mm and 6.71 mm at 20 cm on high sensitivity mode, respectively. Average scatter fraction was 9.87%, and sensitivity was $225.8kcps/{\mu}Ci/cc$ of trues. Activity at 50% deadtime was $4.6{\mu}Ci/cc$, and the error of count rate correction at that activity was from 1.49% to 3.83%. Average nonuniformity for total slice w3s 8.37%. The accuracy of scatter correction was -0.95%. The accuracies of attenuation correction were 5.68% for air, 0.04% for water and -6.51% for polytetrafluoroethylene (PTFE). Conclusion: The results satisfied most acceptance criteria, indicating that the GE $Advance^{TM}$ PET system can be optimally used for clinical applications.

• Journal of The Korean Society of Clinical Toxicology
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• v.19 no.1
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• pp.24-30
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• 2021

Purpose: In Korea, it is predicted that the proportion of drug abusers among patients visiting the emergency room will soon increase. Several emergency medical institutions in Korea are conducting field urine screening tests for poisoning. In this study, we investigated the characteristics and usefulness of urine toxicology screening tests. Methods: The medical records of patients with positive results for tetrahydrocannabinol and methamphetamine from urine toxicology screening tests at a tertiary university hospital from August 2016 to August 2019 were reviewed retrospectively. The subjects were classified into positive and false-positive groups, and their clinical characteristics were compared and analyzed. Results: Of the 2,026 patients surveyed, 823 patients (40.6%) tested positive for one or more drugs. Among them, 12 cases (0.6%) were positive for methamphetamine and 40 cases (2.0%) were positive for tetrahydrocannabinol. The positive and the false-positive rates for methamphetamine were 66.7% and 33.3%, respectively. The positive and the false-positive rates for tetrahydrocannabinol were 2.5% and 97.5%, respectively. Conclusion: Methamphetamine showed a relatively low false-positive rate in our study. Therefore, this test seemed to assist in diagnosing methamphetamine poisoning when considered together with the present illness and physical examination results. On the other hand, the high false-positive rate for tetrahydrocannabinol tests indicates that this test was unlikely to assist in diagnosing tetrahydrocannabinol poisoning. However, considering the growing trend of illegal drug abusers in Korea, it may still be useful as a diagnostic tool for identifying drug users.

• Journal of Korea Entertainment Industry Association
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• v.15 no.1
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• pp.181-189
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• 2021

The purpose of this study is to investigate the relationship between "Mental Status and Dementia Tests" and "predictive diagnosis of severity of dementia". This is a descriptive research, analyze the data collected from Alzheimer's patients and identify which "Mental Status and Dementia Tests" has the most impact to determine the severity of dementia. For this study, Alzheimer's patient's CDR, MMSE-K, SGDS, NPI-Q, BADL and IADL were collected and analyzed. This study will provide a predictive factor to determine the severity of dementia when "Mental Status and Dementia Testss" are being used and also to provide the right treatment. For this study, a total of 617 cases of data from Alzheimer's patients were collected and analyzed with SPSS Statistics. In addition, effective "Mental Status and Dementia Tests" for evaluating the severity of dementia were CDR, ADL, MMSE-K, and SGDS whereas NPI-Q and IADL. Based on the findings of the study, it was recommended to implement more efficient diagnostic method by utilizing a standardized "Mental Status and Dementia Tests".

• Tuberculosis and Respiratory Diseases
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• v.48 no.4
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• pp.438-447
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• 2000

Background : Transbronchial lung biopsy (TBLB) is a relatively simple and convenient procedure to obtain lung tissue from a patient with diffuse or localized lesion on chest radiographs, whose disease cannot be diagnosed through routine tests. The authors tried to evaluate the diagnostic value of TBLB, especially, the concordance between CT scan and TBLB with respect to the location of the lesion and diagnostic yield according to tumor-bronchus relationship. Method : We reviewed the medical records, plain chest films, and chest CT scans of 278 patients who underwent TBLB at Kyungpook National University Hospital between January 1996 and June 1998. Results : One hundred and sixteen (41.7 %) patients were diagnosed by TBLB. Diagnostic yield of TBLB of malignant tumors tended to be higher than that of benign diseases (64.7% versus 53.9%, p=0.09). Of primary lung cancers, TBLB was more diagnostic in adenocarcinoma and small-cell carcinoma than other cell types (p<0.01) and, of benign diseases, more diagnostic in tuberculosis than in non-tuberculous diseases (p<0.05). There was no significant difference in the diagnostic rate according to the location of the tumor. The diagnostic rate tended to increase with the size of tumor (p=0.06). The diagnootic rate of TBLB did not differ according to the pattern of lesion in benign diseases. However, in malignant diseases TBLB was more diagnostic in diffuse/multiple nodular lesions than in localized lesions(p<0.05). According to the tumor-bronchus relationship, TBLB was more diagnootic in type I/II groups than in other types. CT scan and TBLB showed a strong correlation with respect to the localization of the lesion (r=0.994, p<0.01). Conclusion : The above results show that TBLB is useful in the diagnosis of lung disease. CT scan and TBLB showed a strong correlation in determining the location of the lesion. Diagnostic yield of TBLB is higher in lesions with 'bronchus sign' (type I and II). TBLB and other diagnootic methods such as transthoracic needle aspiration are expected to complement one another in the diagnosis of lung diseases.

• 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 the Korean Society of Radiology
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• v.5 no.4
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• pp.201-205
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• 2011

Subacute Ankle Sprain patients, 3 tests have been acknowledge for diagnostic precision and thus most commonly used to test their soft tissues, muscles, and ligaments: ankle stress-valgus test, anterior-draw test, and MRI scan. Although not much different from the rest two in its diagnostic value, MRI costs patients some money and time. Also, we have reached the conclusion through an experiment with a group of patients in a certain hospital that the rest two methods is as efficient and useful as MRI in diagnosing ankle joint patients.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• v.14 no.2
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• pp.113-121
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• 2011

Food allergies affect 7~8% of infants and young children, and their prevalence appears to have increased in recent years. Food allergy refers to an abnormal immunological reaction to a specific food. These reactions can be recurrent each time the food is ingested. Food allergy manifests itself with a wide spectrum of clinical characteristics including IgE-mediated diseases as immediate reactions, non-IgE-mediated disorders as delayed reactions, and mixed hypersensitivities. As a consequence, the clinical picture of a food allergy is pleomorphic. A well-designed oral food challenge is the most reliable diagnostic test for infants and young children whose clinical history and physical examination point towards a specific food allergy. Food specific IgE antibody tests (RAST, MAST, skin prick test, Uni-CAP, etc) are an alternative tool to determine oral food challenge for IgE-mediated disorders, but not for non-IgE-mediated allergies. Moreover, parents often impose their children on unnecessary diets without adequate medical supervision. These inappropriate dietary restrictions may cause nutritional deficiencies. This review aims to introduce clinical perspectives of food allergy in infants and young children and to orient clinicians towards different strains of diagnostic approaches, dietary management, and follow-up assessment of tolerance development.

• Journal of The Korean Society of Clinical Toxicology
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• v.2 no.2
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• pp.147-150
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• 2004

Hydrogen sulfide is a colorless, and malodorous 'rotten eggs' gas that results from the decay of organic material. It is a byproduct of industry and agriculture. The mechanism of its toxicity is primarily related to inhibition of oxidative phosphorylation, which causes a decrease in available cellular energy. Because there is no rapid method of detection that is of clinical diagnostic use, management decisions must be made based on history, clinical presentation, and diagnostic tests that imply hydrogen sulfide's presence. Although there is some anecdotal evidence to suggest that the early use of hyperbaric oxygen is beneficial, supportive care remains the mainstay of therapy. We describe an occupational exposure to hydrogen sulfide gas in 51-year-old man. While cleaning the sewage of pigs. he became unconscious. When he arrived in the emergency department, he had irritability and confused mentality. The typical smell of rotten eggs on clothing and exhaled air were enough to be considered to be exposed to hydrogen sulfide. Hyperbaric oxygen therapy was performed. He had a recovery to normal function.