1.Development of the Korean-translation of Androgen Deficiency in Aging Males (ADAM) Questionnaire.
Soo Woong KIM ; Seung June OH ; Jae Seung PAICK ; Sae Chul KIM
Korean Journal of Urology 2004;45(7):674-679
PURPOSE: A questionnaire is a mandatory screening tool for the deduction of an androgen deficiency in aging males (ADAM). The aim of this study was to translate the ADAM questionnaire into Korean and validate it linguistically. MATERIALS AND METHODS: Two native Korean speakers, who were also fluent in English, independently translated the original English version of the ADAM questionnaire into written Korean. A panel, consisting of the aforementioned translators and four urologists, reviewed the translations to form a single acceptable forward translation. Another translator, having never seen the original version, back-translated the first draft into English. The discrepancies between the original form and the first draft of the Korean translation were reviewed by the panel. Cognitive debriefing interviews with five impotent males with low serum total testosterone levels (>250 ng/dl) were conducted to test the interpretation of the translation. RESULTS: After the forward translation of the ADAM questionnaire, the cultural, linguistic and emotional aspects were discussed, item-by-item, to arrive at a first version. Another bilingual translator then back- translated the first Korean version into English. The panel discussed every discrepancy and decided to modify questions 6 and 8 (second version). Five ADAM patients gave their opinions on the understandability of the translated questionnaire and clarified the questions on a standard form. Through this cognitive debriefing process, the second version was verified as the final Korean version of the ADAM questionnaire, without modifications. CONCLUSIONS: The linguistic validation of Korean version of the ADAM questionnaire has been completed, which might be a useful and reasonable screening tool for the detection of androgen deficiency in aging Korean males.
Aging*
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Humans
;
Linguistics
;
Male*
;
Mandatory Testing
;
Mass Screening
;
Surveys and Questionnaires*
;
Testosterone
;
Translations
2.PBL Experience in the Screening of Chronic Disease.
Korean Journal of Medical Education 2002;14(1):1-11
PURPOSE: Problem-based learning(PBL) experiences applied in the field of screening for chronic disease during the course of Community Medicine for the 3rd grade medical students were summarized. This study was aimed to train medical students the health appraisal ability and also the ability for public health education and promotion with health-oriented concept rather than disease-oriented one. And also it was aimed to train students to know what to learn and how to search the informations they need for themselves. STUDY SUBJECT AND METHOD: Three to four students in one team spent one and half days(Friday and Saturday) of one-week practical course of Community Medicine. Assigned materials were the medical records which are the files with the results of automated multiphasic screening tests which were applied to generally healthy people. Students were supposed to find, evaluate, solve or manage the real problems encountered from the multiphasic screening test results. RESULTS: The students accepted this self-directed learning process and small group discussion and also health-oriented human approach as new experiences and stimulants.
Chronic Disease*
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Community Medicine
;
Education
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Humans
;
Learning
;
Mass Screening*
;
Medical Records
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Multiphasic Screening
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Problem-Based Learning
;
Public Health
;
Students, Medical
3.Annual Report on External Quality Assessment in Inborn Error of Metabolism in Korea (2003).
Jong Won KIM ; Kye Chol KWON ; C H KIM ; W K MIN ; Byung Yoon BAIK ; Junghan SONG ; Soo Youn LEE ; Eun Hee LEE ; Tae Yoon CHOI
Journal of Laboratory Medicine and Quality Assurance 2004;26(1):137-146
The trial of external quality assessment for inborn error of metabolism was performed in 2003. A total 10 specimens for neonatal screening tests were distributed to 43 laboratories with a response rate of 83%. All the control materials were sent as a filter paper form. Each laboratory replied the test result as the screening items they were doing as a rountine test at the reception of the specimen among PKU screening, neonatal TSH, neonatal T4(total/free), galactosemia screen, homocytinuria screen and histidinemia screen. The mean, SD, and CV were analyzed.
Galactosemias
;
Infant, Newborn
;
Korea*
;
Mass Screening
;
Metabolism*
;
Neonatal Screening
4.Evaluation of the Hahn's Pseudoisochromatic Plates.
Journal of the Korean Ophthalmological Society 1977;18(4):297-298
72 subjects with defective color vision that was detected by the screening test among 633 high school students were examined using a printed sample of the author's plates and other 7 kinds of color tests including Ishihara's, Okuma's. Tokyo Medical College'sand H-R-R's plates, Farnsworth's Panel D-15 Test. Hahn's Double 15-Hue Test and Hahn's Color Choice Test (modified City University Colour Vision Test). Results of examination in classifying the types and estimating the extent of color defects using the author's plates were compared with the summarized final results obtained with 8 kinds of tests and the rate of coincidence of results both in type and in extent was found to be 33.3% in the author's plates, 37.5% in Okuma's, 36.1% in Tokyo Medical College's and 27.8% in H-R-R's plates.
Color Vision
;
Humans
;
Mass Screening
5.Follow-up Study of Hyperthyrotropinemia Detected by Neonatal Screening Test.
Kyung Hoon PAIK ; Sung Hye KIM ; Dong Kyu JIN
Journal of Korean Society of Pediatric Endocrinology 2002;7(2):215-220
PURPOSE: To understand natural course of transient hyperthyrotropinemia, so that the unnecessary treatment could be avoided. METHODS: Total 182 healthy newborns whose TSH levels in newborn screening test had been higher than 20 microIU/mL were recalled. Their serum levels of TSH, T4, free T4 were checked. RESULTS: Among 182 newborns, 10 newborns had congenital hypothyroidism. 68.1 % of healthy newborns who had high TSH levels were normalized within 2 months and all of the rests were normalized within 5 months. CONCLUSION: Transient hyperthyrotropinemia in newborns improves spontaneously. The unnecessary treatment of transient hyperthyrotropinemia should be avoided.
Congenital Hypothyroidism
;
Follow-Up Studies*
;
Humans
;
Infant, Newborn
;
Mass Screening
;
Neonatal Screening*
6.Two Cases of Isolated Hypermethioninemia Found by Neonatal Mass Metabolic Screening Tests.
Tae Youn CHOI ; Won Bae KIM ; Dong Hwan LEE
Korean Journal of Clinical Pathology 1998;18(4):546-549
The neonatal screening test for homocystinuria has mostly measured methionine by use of dried blood specimen. Isolated hypermethioninemia, clinically benign metabolic disorder associated with the deficiency of methionine adenosyl transferase in liver, is discovered in neonatal mass screening tests for homocystinuria. We diagnosed two cases of isolated hypermethioninemia using the amino acid analysis and the liver function tests for newborns with increased methionine level in the Guthrie screening test for homocystinuria. For the first time in Korea, we report two cases of patients with isolated hypermethioninemia with a brief review of literatures.
Homocystinuria
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Humans
;
Infant, Newborn
;
Korea
;
Liver
;
Liver Function Tests
;
Mass Screening*
;
Methionine
;
Neonatal Screening
;
Transferases
7.Novel heterozygous MCCC1 mutations identified in a patient with 3-methylcrotonyl-coenzyme A carboxylase deficiency.
Yoon Myung KIM ; Go Hun SEO ; Gu Hwan KIM ; Han Wook YOO ; Beom Hee LEE
Journal of Genetic Medicine 2017;14(1):23-26
Isolated 3-methylcrotonyl-CoA carboxylase deficiency is an autosomal recessive disorder affecting leucine metabolism; it is one of the most common inborn metabolic diseases detected in newborn screening. Mutations in the genes MCCC1 or MCCC2 cause a defect in the enzyme 3-methylcrotonyl-CoA carboxylase, with MCCC2 mutations being the form predominantly reported in Korea. The majority of infants identified by neonatal screening usually appear to be asymptomatic and remain healthy; however, some patients have been reported to exhibit mild to severe metabolic decompensation and neurologic manifestations. Here we report the clinical features of a patient with asymptomatic 3-methylcrotonyl-CoA carboxylase deficiency and novel heterozygous MCCC1 mutations.
Humans
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Infant
;
Infant, Newborn
;
Korea
;
Leucine
;
Mass Screening
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Metabolic Diseases
;
Metabolism
;
Neonatal Screening
;
Neurologic Manifestations
8.The prevalence of pediatric endocrine and metabolic diseases in Korea.
Korean Journal of Pediatrics 2008;51(6):559-563
The government neonatal screening program has a 17-years history. Therefore, it can now provide information on the prevalence of endocrine and metabolic diseases which included in neonatal screening. Knowledge of the prevalence of metabolic diseases is very important with these results, the most effective screening methods can be determined and diseases can be identified that should be added to neonatal screening. For these purposes regular follow-up of patients with metabolic diseases and quality assuarance are also needed.
Humans
;
Infant, Newborn
;
Korea
;
Mass Screening
;
Metabolic Diseases
;
Neonatal Screening
;
Prevalence
9.Annual Report on External Quality Assessment in Inborn Error of Metabolism in Korea (2002).
Jong Won KIM ; Kye Chol KWON ; Jeong Ho KIM ; Won Ki MIN ; Myung Soo KIM ; Hai Jin HAN ; Junghan SONG ; Soo Youn LEE ; Eun Hee LEE ; Tae Yoon CHOI
Journal of Laboratory Medicine and Quality Assurance 2003;25(1):145-155
The trial of external quality assessment for inborn error of metabolism was performed in 2002. Total 10 specimens for neonatal screening tests were distributed to 61 laboratories with a response rate of 70.5%(43/61). All the control materials were sent as filter paper forms. Each laboratory replied the test results as the screening items they were testing routinely at the reception of the specimen among PKU screening, TSH, T4 (total/free), galactosemia screen, maple syrup urine disease screen, homocytinuria screen and histidinemia screen. The mean, SD, CV, median and range were analyzed.
Galactosemias
;
Infant, Newborn
;
Korea*
;
Maple Syrup Urine Disease
;
Mass Screening
;
Metabolism*
;
Neonatal Screening
10.Organic Acid Analysis on Urine Sample Obtaine3d from Dried Filter Paper in Newborns: Development of Screening Method for Organic Aciduria in Neborns.
Journal of the Korean Pediatric Society 2000;43(10):1311-1317
PURPOSE: Neonatal screening for inherited metabolic disease is aimed at identifying affected infants early, thus permitting medical intervention to prevent or minimize the effect of the disease. However, organic aciduria, most of which causes severe disease and mental retardation, is not yet screened routinely because of the difficulty of tests, sample collection, and expenditure of time and financial resources. This study was designed to develop a screening method for the detection of multiple organic aciduria and neuroblastoma, using dried urine filter paper. METHODS: The standard markers used for screening of organic aciduria were placed on the filter paper and analysed with the modified organic acid analysis method. The extraction efficiency and stability of standard markers were tested for the purpose of adequacy as screening markers, and the method described herein was evaluated by analyzing filter paper samples obtained from both normal newborns and patients with known organic aciduria. RESULTS: The standard markers in the filter paper left in the room temperature over a period of 5 days were still stable without significant degradation. The level of specific organic acids obtained from known organic aciduria patients were easily detectable-enough to make the diagnosis. CONCLUSION: The filter papers soaked with urines obtained from newborns or patients with suspicious metabolic diseases are adequate for screening of organic acidurias and neuroblastoma. Sample delivery to the laboratory can be handled more easily with this method and even newborn screening could be applied in the future.
Diagnosis
;
Health Expenditures
;
Humans
;
Infant
;
Infant, Newborn*
;
Intellectual Disability
;
Mass Screening*
;
Metabolic Diseases
;
Neonatal Screening
;
Neuroblastoma