• Journal of Genetic Medicine
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• v.16 no.2
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• pp.85-89
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• 2019

Hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome is a rare autosomal recessive urea cycle disorder. HHH is caused by a deficiency of the mitochondrial ornithine transporter protein, which is encoded by the solute carrier family 25, member 15 (SLC25A15) gene. Recently, government supported Korean newborn screening has been expanded to include a tandem mass spectrometry (MS/MS) measurement of ornithine level. We report a case of a neonate with HHH syndrome showing a normal MS/MS measurement of ornithine level. A female newborn was admitted to neonatal intensive unit due to familial history of HHH syndrome. Her parents were consanguineous Parkistani couple. The subject's older sister was diagnosed with HHH syndrome at age of 30 months based on altered mental status and liver dysfunction. Even though the subject displayed normal ammonia and ornithine levels based on MS/MS analysis, a molecular test confirmed the diagnosis of HHH syndrome. At 1 month of age, amino acid analysis of blood and urine showed high levels of ornithine and homocitrulline. After 11 months of follow up, she showed normal growth and development, whereas affected sister showed progressive cognitive impairment despite no further hyperammonemia after protein restriction and standard therapy. Our report is in agreement with a previous Canadian study, which showed that neonatal samples from HHH syndrome patients demonstrate normal ornithine levels despite having known mutations. Considering the delayed rise of ornithine in affected patients, genetic testing, and repetitive metabolic testing is needed to prevent patient loss in high risk patients.

• The Journal of Korean Medicine
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• v.32 no.6
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• pp.10-17
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• 2011

Background: Vibration response imaging (VRI) is a new technology that records energy generated by airflow during the respiration cycle. Analysis of lung sound using VRI may overcome the limitations of auscultation. Objectives: To set a VRI standard for healthy Koreans, we conducted a clinical assessment to evaluate breath sound images and quantification in healthy subjects and compared the findings with reported breath sound characteristics. Methods: Recordings were performed using the VRIxp. Eighty subjects took a deep breath four times during a 12-second interval while sitting upright. The quantitative aspect was analyzed using the VRI quantitative lung data (QLD) for total left lung, total right lung and for six lung regions: left upper lung (LUL), left middle lung (LML), left lower lung (LLL), right upper lung (RUL), right middle lung (RML), right lower lung (RLL). The qualitative aspect was provided through image assessments by three reviewers. Results: In all regions the left lung had significantly higher QLD than the right lung (P<0.005, paired t-test). The inter-rater agreement was 0.78. 84% of the images were found normal by the final assessment. Among the 16% (n=13) of images with abnormal final assessment, the most common flawed features were dynamic image (77%, n=10) and maximum energy frame (MEF) shape (77%, n=10). No significant differences were found between males and females for QLD but there were significant differences in qualitative aspects including dynamic images, MEF shape, and missing LLL. Conclusion: The characteristics of healthy Koreans are similar to those of Western subjects reported previously. VRI is easy to use and objective, and so is helpful to diagnose patients with respiratory diseases and to monitor the progress of diseases after medical treatments.

• Asian Pacific Journal of Cancer Prevention
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• v.14 no.12
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• pp.7415-7419
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• 2013

The diagnosis of latent Mycobacterium tuberculosis infection (LTBI) is recommended in hematological malignancy patients and before hematopoietic stem cell transplantation (Guidelines for the prevention and management of infectious complications of solid organ transplantation, 2004). Compared to traditional methods such as tuberculin skin test (TST), T-SPOT.TB has been shown to be more specific. In the present study we enrolled 536 patients for whom T-SPOT.TB was performed, among which 295 patients also received the TST test. The agreement (79%) between T-SPOT.TB and TST was poor (x=0.274, P<0.001). The patients with positive T-SPOT.TB results numbered 62 (11.6%), in which only 20 (48.8%) of the 41 receiving the TST test had positive results. A majority of the patients with T-SPOT.TB positive results had some other evidence ofTB, such as TB history, clinical symptoms and an abnormal chest CT scan. Active TB was found in 9 patients, in which 2 had negative TST results. We followed up the patients and no one developed active TB. Our study suggested that the T-SPOT.TB may be more useful for screening LTBI and active TB in hematological malignancy patients and hematopoietic stem cell transplant recipients than the TST test.

• The Journal of the Korea Contents Association
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• v.14 no.7
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• pp.281-290
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• 2014

This study is a quasi-experimental research using non-equivalent control group pre-post design in order to understand the effectiveness of biomedical ethics education using movies. This study selected the first-year 45 students and 63 students who were attending at two 4-year-course nursing colleges as an experimental group and control group, respectively. Then, this study provided the experimental group with the lecture on biomedical ethics for 16 weeks using the movie related to the ethical issues covering 10 areas. Data collection was done for 5 days from August 26, 2013 until December 5, 2013, and conducted pre-post questionnaire survey on the 1st week session and 16th session after explaining there search purpose and getting a written agreement from the subjects. As a result of analysis of the collected data using SPSS Statistics 18, it was found that students' average point of biomedical ethics awareness improved to 3.31 from 3.07; additionally, in the analysis of the data by sub-area, the point in artificial abortion improved to 3.69 from 3.08; artificial insemination from 2.99 to 3.57; fetal diagnosis from 3.10 to 3.45; a newborn's right to life from 3.39 to 3.55 and organ transplant from 3.26 to 3.53, respectively(P<.001). On the contrary, the research results showed that there was no change in the point of the mercy-killing, brain death, and human biotechnology areas, respectively(p>.05). Conclusively, movie-aided education could be diversely used for nursing education provided movie contents should be in accord with a lecture subject in a way that can arouse students' interest and concern, and improve educational satisfaction.

• Tuberculosis and Respiratory Diseases
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• v.76 no.1
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• pp.23-29
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• 2014

Background: Interferon-${\gamma}$ assays based on tuberculosis (TB)-specific antigens have been utilized for diagnosing and ruling out latent TB and active TB, but their utility is still limited for TB incidence countries. The aim of this study is to understand the clinical utility of enzyme-linked immunospot (ELISpot) assays among patients with clinically suspected TB and healthy adults in clinical practices and community-based settings. Methods: The ELISpot assays (T SPOT.TB, Oxford Immunotec, UK) were prospectively performed in 202 patients. After excluding those with indeterminate results, 196 were included for analysis: 41 were TB patients, 93 were non-TB patients, and 62 were healthy adults. Results: The sensitivity and negative predictive values of the T SPOT.TB assays for the diagnosis of TB were 87.8% and 89.1%, respectively, among patients with suspected TB. The agreement between the tuberculin skin test (10-mm cutoff) and the T SPOT.TB assay was 66.1% (kappa=0.335) in all participants and 80.0% (kappa=0.412) in TB patients. Among those without TB (n=155), a past history of TB and fibrotic TB scar on chest X-rays were significant factors that yielded positive T SPOT.TB results. There was a significant difference in the magnitude of T SPOT.TB spot counts between TB patients and non-TB patients or healthy adults. Conclusion: The T SPOT.TB assay appeared to be a useful test for the diagnostic exclusion of TB. A positive result, however, should be cautiously interpreted for potential positives among those without active TB in intermediate TB incidence areas.

• Physical Therapy Korea
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• v.10 no.1
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• pp.15-27
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• 2003

Therapeutic ultrasound is commonly applied for deep heating in physical therapy setting. However, it is difficult to determine the exact application dosage and to confirm the immediate heating effect. Microwave Radio-Thermometer (MRT) can measure the temperature by the electromagnetic energy in the microwave region of the object that emits above absolute zero temperature. MRT was used for early diagnosis of breast cancer since it was not harmful, non-invasive, and non-ionizing to the human body. The purposes of this study were to investigate how accurately 1.1 GHz RTM (RES Ltd. Russia) measures the change of average temperature in the tissue, and to determine the depth of temperature change measurement. Therapeutic ultrasound was applied (continuous wave for 5 minutes, 1 MHz, intensity of 1.5 $W/cm^2$ [in vitro] and 1.0 $W/cm^2$ [in vivo]) in four different conditions: (1) 30 cases of in vitro specimen of pork, (2) 30 cases of in vitro specimen of pork ankle joint, (3) 10 cases of in vivo canine thigh, and (4) 30 cases of in vivo human body. Intraclass Correlation Coeffients (ICC[3,1]) between average needle probe thermometer below surface and MRT temperature was revealed as followed: (1) Before ultrasound application ICCs ranges above .8 in specimen of pork (15 mm underneath the skin) and above .82 in specimen of pork ankle joint (10~30 mm underneath the skin). (2) After ultrasound application ICCs ranges above .7 in both specimens of pork and pork ankle joint. (3) Before ultrasound application ICCs ranges above .8 in canine thigh (20 mm underneath the skin). (4) After ultrasound application ICCs ranges above .82 in canine thigh. The temperature of the human body increased significantly with the mean of $15^{\circ}C$ in muscle tissue and with the mean of $3.5^{\circ}C$ in joint (p<.00). It was revealed that the average depth of temperature measurement of the tissue by MRT was in between 10 and 35 mm, and determined that the proper temperature measurement band was $36.5{\sim}37.0^{\circ}C$.

• The Korean Society of Law and Medicine
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• v.13 no.2
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• pp.179-214
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• 2012

There are two opinions on the legal characteristics of damages for non-pecuniary loss, a private sanctions theory and complementary function of damages for non-pecuniary loss, briefly. There is a close connection between the legal characteristics and the function of damages for non-pecuniary loss. The functions of damages for non-pecuniary loss are consist of satisfaction, prevention( sanctions) and complementation. Several cases of medical injury relief reported to Korea Comsumer Agency are categorized as follows, 1) cases of death after having an operation, 2) diagnosed with disability after a medical accident, 3) extended damages happening related to delayed diagnosis, 4) et cetera(a plastic surgery, a treatment with oriental medicine), and the damages for non-pecuniary loss in respect to each cases are examined. In the case of occurring death or disability, Korea Comsumer Agency has set up guidelines for assessment of damages for non-pecuniary loss by classifying into major and collateral violation for a duty of care. Furthermore, the damages for non-pecuniary loss in the case of all sorts of cancers, are assessed in accordance with the degree of responsibility subsequent to dividing cancer into good and poor prognosis. When it comes to a complementary function of damages for non-pecuniary loss in the actual work, it is hard to assess the damages as it is difficult to objectify non-pecuniary loss, such as emotional distress. Though compensation for damages is major legal characteristics of consolation money, preventing a damage(private sanctions) through consolation for a victim or sanctions against an assailant also has great significance. Therefore, it is necessary to approach flexibly for mutual agreement by considering specialty( concrete facts) of individual issue thoroughly. If considering this aging society that limits the possible age for work to 60 years old, it is needed to have a complementary function of consolation money in mind not to make it less meaningful for victims due to small sum of consolation money.

• Asian Pacific Journal of Cancer Prevention
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• v.16 no.3
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• pp.1123-1127
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• 2015

Uterine leiomyomas (ULM), are benign tumors of the smooth muscle cells of the myometrium. They represent a common health problem and are estimated to be present in 30-70% of clinically reproductive women. Abnormal angiogenesis and vascular-related growth factors have been suggested to be associated with ULM growth. The angiotensin-I converting enzyme (ACE) is related with several tumors. The aim of this study was to identify possible correlation between ULM and the ACE I/D polymorphism, to evaluate whether the ACE I/D polymorphism could be a marker for early diagnosis and prognosis. ACE I/D was amplified with specific primer sets recognizing genomic DNA from ULM (n=72) and control (n=83) volunteers and amplicons were separated on agarose gels. The observed genotype frequencies were in agreement with Hardy-Weinberg equilibrium ($x^2=2.162$, p=0.339). There was no association between allele frequencies and study groups ($x^2=0.623$; p=0.430 for ACE I allele, $x^2=0.995$; p=0.339 for ACE D allele). In addition, there were no significant differences between ACE I/D polymorphism genotype frequencies and ULM range in size and number ($X^2=1.760;$ p=0.415 for fibroid size, $X^2=0.342;$ p=0.843 for fibroid number). We conclude that the ACE gene I/D polymorphism is not related with the size or number of ULM fibroids in Turkish women. Thus it cannot be regarded as an early diagnostic parameter nor as a risk estimate for ULM predisposition.

• Journal of Veterinary Clinics
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• v.32 no.3
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• pp.219-223
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• 2015

Mycobacterium avium subsp. paratuberculosis (MAP) causes paratuberculosis or Johne's disease, an intestinal granulomatous infection in domestic and wild animals. The study aimed to develop and evaluate a panel of multiplex quantitative real-time polymerase chain reaction (mqPCR) assay for simultaneous detection of three MAP-specific genes (IS900, F57 and ISMAP02 genes). The analytic sensitivity (i.e., limit of detection, expressed as cells per 1 ml) was 150 for IS900, 1500 for F57, and 50 for ISMAP02. The specificity of the method was determined by testing 152 bovine fecal samples. Based on the test, it showed that the assay simultaneously detected the target genes in short period of time and at lower cost compared to laboratory routine tests. The test agreement between the assay and routine test was 94%. The discrepancy in the results was due to samples that were tested positive by the panel but negative by the routine tests, suggesting that the assay has higher sensitivity than the routine tests. In conclusion, the mqPCR assay could be a rapid and accurate testing tool for investigating paratuberculosis or Johne's disease cases in domestic and wild animals.

• Korean Journal of Veterinary Research
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• v.35 no.1
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• pp.159-167
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• 1995

The relationship between palpable ovarian structure and milk progesterone levels were determined in 144 dairy cows. Depending on the ovarian structure and diseases were divided into two groups, Group I (absence of functional luteal tissue in ovary and <2ng/ml in milk progesterone levels) and Group II(presence of functional luteal tissue in ovary and ${\geq}2ng/ml$ in milk progesterone levels) 1. Among 69 cows of group I, dysfunction of ovary, atropy of ovary, follicle is ovary, follicular cyst and corpus luteum albicans were 17(11.8%), 19(13.2%), 14(9.7%), 3(2.1%) and 16 cows(11.1%), and among 75 cows of group II, corpus luteum A, B and C were 16(11.1%), 17(11.8%) and 42 cows(29.2%), respectively. 2. In Group I, milk progesterone concentrations were <1ng/ml in 55 cows(79.9%). Conversely in Ggroup II, milk progesterone concentrations were ${\geq}4ng/ml$ in 55 cows(73.3%). 3. The mean(${\pm}SE$) concentrations of milk progestsrone in the Group I and II were $1.62{\pm}0.45$ and $7.64{\pm}0.68ng/ml$, respectively, and CR test showed the difference in milk progesterone concentrations between the two groups to be statistically significant(p<0.01). 4. The mean(${\pm}SE$) concentration of milk progesterone in cows with corpus luteum A, B and C were $8.11{\pm}1.83$, $8.48{\pm}1.30$ and $7.12{\pm}0.82ng/ml$, respectively, there was no significant relationship between palpable corpora luteum structure and milk progesterone concentration. 5. The accuracy of ovarian diagnosis was 82.6 and 20.2% in the Group I and II, respectively, and Chi-square test showed the difference in accuracy between the two groups to be statistically significant (p<0.001). 6. The agreement between the rectal palpation and milk progesterone concentrations in ovarian disease was 50%.