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JYMS : Journal of Yeungnam Medical Science

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Case report
Septo-optic dysplasia associated with chromosome 15q13.3 duplication: a case report
Jeong A Ham, Sung Hyun Kim, Donghwi Park
J Yeungnam Med Sci. 2023;40(4):419-422.   Published online December 2, 2022
DOI: https://doi.org/10.12701/jyms.2022.00493
  • 1,488 View
  • 67 Download
AbstractAbstract PDF
Septo-optic dysplasia (SOD) is a rare congenital anomaly that is clinically defined by developmental delay and characteristic brain magnetic resonance imaging findings, including optic nerve hypoplasia, pituitary hormone abnormalities, and midline brain defects. The occurrence of SOD is generally sporadic; however, it can be inherited rarely. Although an association with HESX1, SOX2, and SOX3 mutations has been identified, the detailed etiology is multifactorial and unclear. Here, we present the case of a 7-year-old girl who was clinically diagnosed with SOD and 15q13.3 duplication. Patients with duplication at chromosome 15q13.3 were reported to be diagnosed with autism spectrum disorder, epilepsy, and schizophrenia in previous studies. The relationship between SOD and the microduplication of 15q13.3 has not yet been explored. In this study, we suggest that there may be an association between chromosome 15q13.3 microduplication and SOD.
Original articles
Auricular acupuncture for sleep quality in participants with mental and behavioral disorders due to prior multiple drug use: a retrospective consecutive case series
Yuri Gimelfarb, Eran Goldstien
J Yeungnam Med Sci. 2023;40(1):78-85.   Published online November 28, 2022
DOI: https://doi.org/10.12701/jyms.2022.00542
  • 3,432 View
  • 102 Download
AbstractAbstract PDF
Background
Poor sleep quality is associated with psychoactive substance abuse/addiction/withdrawal. Auricular acupuncture (AA) is a nonpharmacological method used for the treatment of sleep disturbances. This study aimed to examine the quality of sleep before and after AA in participants with mental and behavioral disorders due to prior multiple drug use in the therapeutic community.
Methods
This was a consecutive case series of 27 participants (25 male [92.6%]). The median age was 35.0 years (interquartile range [IQR], 29.0–37.2 years), methadone/buprenorphine were not used, and the participants were treated with AA (median number of treatments, 15.0 [IQR, 12.0–18.0]) during a median period of 51.0 days (IQR, 49.0–51.0 days) according to the National Acupuncture Detoxification Association (NADA)-Acudetox protocol. Sleep quality was determined using the Pittsburgh Sleep Quality Index (PSQI), a self-rated questionnaire that assesses sleep quality and disturbances over a 1-month interval.
Results
The global PSQI score dropped (indicating better sleep quality) by a median of 3.0 points (IQR, 0.0–8.0 points) after treatment. In the multivariate logistic regression analysis, with an increase in global PSQI score during AA by 1 point, there was a 0.73-fold reduction in the risk of poor sleep quality post-AA (adjusted odds ratio, 0.73; 95% confidence interval, 0.52–1.01; p<0.055; Nagelkerke's R2=0.66).
Conclusion
The results revealed a positive effect of AA (by the NADA-Acudetox protocol) on sleep quality (as measured by PSQI) among participants in a treatment center with mental and behavioral disorders due to multiple drug use.
Magnetic resonance imaging texture analysis for the evaluation of viable ovarian tissue in patients with ovarian endometriosis: a retrospective case-control study
Dayong Lee, Hyun Jung Lee
J Yeungnam Med Sci. 2022;39(1):24-30.   Published online July 15, 2021
DOI: https://doi.org/10.12701/yujm.2021.01165
  • 4,025 View
  • 114 Download
AbstractAbstract PDF
Background
Texture analysis has been used as a method for quantifying image properties based on textural features. The aim of the present study was to evaluate the usefulness of magnetic resonance imaging (MRI) texture analysis for the evaluation of viable ovarian tissue on the perfusion map of ovarian endometriosis.
Methods
To generate a normalized perfusion map, subtracted T1-weighted imaging (T1WI), T1WI and contrast-enhanced T-WI with sequences were performed using the same parameters in 25 patients with surgically confirmed ovarian endometriosis. Integrated density is defined as the sum of the values of the pixels in the image or selection. We investigated the parameters for texture analysis in ovarian endometriosis, including angular second moment (ASM), contrast, correlation, inverse difference moment (IDM), and entropy, which is equivalent to the product of area and mean gray value.
Results
The perfusion ratio and integrated density of normal ovary were 0.52±0.05 and 238.72±136.21, respectively. Compared with the normal ovary, the affected ovary showed significant differences in total size (p<0.001), fractional area ratio (p<0.001), and perfusion ratio (p=0.010) but no significant differences in perfused tissue area (p=0.158) and integrated density (p=0.112). In comparison of parameters for texture analysis between the ovary with endometriosis and the contralateral normal ovary, ASM (p=0.004), contrast (p=0.002), IDM (p<0.001), and entropy (p=0.028) showed significant differences. A linear regression analysis revealed that fractional area had significant correlations with ASM (r2=0.211), IDM (r2=0.332), and entropy (r2=0.289).
Conclusion
Magnetic resonance texture analysis could be useful for the evaluation of viable ovarian tissues in patients with ovarian endometriosis.
Case Report
Double primary lung adenocarcinoma diagnosed by epidermal growth factor receptor mutation status
Oh Jung Kwon, Min Hyeok Lee, Sung Ju Kang, Seul Gi Kim, In Beom Jeong, Ji Yun Jeong, Eun Jung Cha, Do Yeun Cho, Young Jin Kim, Ji Woong Son
Yeungnam Univ J Med. 2017;34(2):270-274.   Published online December 31, 2017
DOI: https://doi.org/10.12701/yujm.2017.34.2.270
  • 2,144 View
  • 11 Download
AbstractAbstract PDF
A nodular density was detected on a chest radiograph taken from a 57-year-old Korean woman who was visiting a hospital for a routine check. Chest computed tomography revealed a 4.8 cm lobulated mass in the right lung and another focal nodular lesion in the left lung; biopsies of both lungs revealed adenocarcinoma. We conducted DNA sequencing and peptide nucleic acid clamping to investigate the potential double primary lung cancer. The results verified that the mass in the right lung had a mutation in the epidermal growth factor receptor, whereas the nodule in the left lung had a wild-type sequence, showing that these two were genetically different cancers from one another. Thus, we demonstrate that genetic testing is useful in determining double primary lung cancer, and we herein report on this case.
Original Article
Meta-analysis on risk stratification of malignant ventricular tachyarrhythmic events in arrhythmogenic right ventricular cardiomyopathy
Young Eun Roh, Hyun Ji Jang, Min Jung Cho
Yeungnam Univ J Med. 2017;34(2):208-215.   Published online December 31, 2017
DOI: https://doi.org/10.12701/yujm.2017.34.2.208
  • 1,900 View
  • 6 Download
AbstractAbstract PDF
BACKGROUND
Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a cardiomyopathy characterized by predominant right ventricular fibro-fatty replacement, right ventricular dysfunction and ventricular arrhythmias. It is a rare but important cause of sudden cardiac death in children and young adults. A meta-analysis on risk stratification of major ventricular tachyarrhythmic events indicating the need for implantable cardioverter defibrillator therapy in ARVC was performed. METHODS: The pubmed database was searched from its inception to May 2015. Of the 433 citations identified, 12 were included in this meta-analysis. Data regarding major ventricular tachyarrhythmic events were retrieved in 817 subjects from the studies. For the variables, a combined odds ratio (OR) was calculated using a fixed-effects meta-analysis. RESULTS: Extensive right ventricular dysfunction (OR, 2.44), ventricular late potential (OR, 1.66), inducible ventricular tachyarrhythmia during electrophysiology study (OR, 3.67), non-sustained ventricular tachycardia (OR, 3.78), and history of fatal event/sustained VT (OR, 5.66) identified as significant risk factors (p < 0.0001). CONCLUSION: This meta-analysis shows that extensive right ventricular dysfunction, ventricular late potential, inducible ventricular tachyarrhythmia during electrophysiological study, non-sustained ventricular tachycardia, and history of sustained ventricular tachycardia/fibrillation are consistently reported risk factors of major ventricular tachyarrhythmic events indicating implantable cardioverter defibrillator therapy in patients with ARVC.
Case Reports
A Case of Recurrent Exercise-Induced Acute Renal Failure and Renal Hypouricemia with R90H Mutation in a SCL22A12 Gene.
Ae Jin Kim, Soo Yong Park, Ji Yong Jung, Jae Hyun Chang, Hyun Hee Lee, Wook Yung Chung, Han Ro
Yeungnam Univ J Med. 2012;29(2):150-152.   Published online December 31, 2012
DOI: https://doi.org/10.12701/yujm.2012.29.2.150
  • 1,827 View
  • 3 Download
  • 1 Crossref
AbstractAbstract PDF
Acute renal failure with severe loin pain and patch renal ischemia after anaerobic exercise (ALPE) is a rare cause of exercise-induced acute kidney injury. Some ALPE patients also have renal hypouricemia. Mutations in the SCL22A12 gene are among the major factors of hypouricemia. Education for the prevention of relapse and genetic counseling should be recommended to ALPE patients with renal hypouricemia. This paper reports a 25-year-old man who showed recurrent exercise-induced ARF and renal hypouricemia with R90H mutation in his SCL22A12 gene.

Citations

Citations to this article as recorded by  
  • A Case Report of Familial Renal Hypouricemia Confirmed by Genotyping of SLC22A12, and a Literature Review
    Hyung Oh Kim, Chun-Gyoo Ihm, Kyung Hwan Jeong, Hyun Joon Kang, Jae-Min Kim, Hyung Suk Lim, Jin Sug Kim, Tae Won Lee
    Electrolytes & Blood Pressure.2015; 13(2): 52.     CrossRef
A Case of Molecular Diagnosis of Ornithine Transcarbamylase Deficiency.
Eun Sil Lee
Yeungnam Univ J Med. 2007;24(2):322-328.   Published online December 31, 2007
DOI: https://doi.org/10.12701/yujm.2007.24.2.322
  • 1,674 View
  • 0 Download
  • 1 Crossref
AbstractAbstract PDF
Ornithine transcarbamylase (OTC) deficiency is the most common inborn error of urea cycle metabolism; it is inherited in an X-linked manner. The OTC catalyzes the third step of the urea cycle, the conversion of ornithine and carbamyl phosphate to citrulline. Deficiency of OTC leads to the accumulation of ammonia, causing neurological deficits. In most affected hemizygote males, OTC deficiency manifests as hyperammonemic coma that often leads to death in the newborn period, and those who recover from the coma may be neurologically impaired due to the sequelae of the hyperammonemic encephalopathy. In some, late-onset manifestations develop. We report a male neonate with early onset OT deficiency that had apnea and was comatous. On mutation analysis using DNA sequencing after polymerase chain reaction (PCR) amplification of the 10 exons, deletions of 10 bases in codon 285, causing a frame shift was detected in exon 8. The mother and a sister were diagnosed as female carriers. Therefore, genetic counseling and the risk assessment could be provided to the family.

Citations

Citations to this article as recorded by  
  • The First Neonatal Case of Neonatal Argininosuccinic Aciduria in Korea
    In Ok Hwang, Eun Sil Lee
    Journal of the Korean Society of Neonatology.2011; 18(1): 143.     CrossRef
Original Article
Comparisons of Gas Analysis in Arterial, Venous and Warmed Venous Blood During Inhalation General Anesthesia
Heung Dae Kim
Yeungnam Univ J Med. 2007;24(2 Suppl):S519-526.   Published online December 31, 2007
DOI: https://doi.org/10.12701/yujm.2007.24.2S.S519
  • 1,230 View
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AbstractAbstract PDF
Background
:We determine whether venous blood, when sampled under carefully controlled conditions, was an acceptable alternative to arterial blood for the measurement of arterial blood gas analysis during inhalation general anesthesia. Materials and Methods:The arterial blood values of the carbon dioxide tension (PCO2), pH, base excess (BE), oxygen tension (PO2) and oxygen saturation (SO2) were compared with the values of venous blood drawn from the cephalic vein as non controlled routine method and as localized warmed method during inhalation general anesthesia with sevoflurane and N2O (50%) in 20 cases.
Results
:The blood gas analysis values of non controlled cephalic venous blood were close to those of arterial blood. They was similar between the PCO2 (42.5 ± 0.97 vs. 38.7 ± 0.92 mmHg), pH (7.35 ± 0.01 vs. 7.39 ± 0.01) and BE (-3.13 ± 0.62 vs. -0.18 ± 0.13 mEq/l) of non controlled cephalic venous and of arterial blood. Although the PO2 in non controlled cephalic venous blood was significantly less than that in arterial blood(130.8 ± 8.1 vs. 245.3 ± 6.8 mmHg), the difference in SO2 was small(98.9 ± 2.1 vs. 99.7 ± 0.4%). The blood gas values of warmed cephalic venous blood were more similar to those of arterial blood (PCO2, 41.2 ± 0.91 vs. 38.7 ± 0.92 mmHg; pH, 7.37 ± 0.01 vs. 7.39 ± 0.01; BE, -2.30 ± 0.62 vs. -0.18 ± 0.13 mEq/l; PO2, 157.3 ± 11.4 vs. 245.3 ± 6.8 mmHg; SO2, 99.2 ± 1.3 vs. 99.7 ± 0.4%) than to those of non controlled cephalic venous blood.
Conclusion
:We found that warmed cephalic venous blood during inhalation general anesthesia can be arterialized and PCO2, pH, BE and SO2 of warmed cephalic venous blood were not significantly different to those of arterial blood. Therefore we conclude that it is reliable to use localized warmed cephalic venous blood for the measurement of arterial blood gas analysis during inhalation general anesthesia.
Reviews
Identification of Interleukin 1-Responsive Genes in Human Chondrosarcoma SW1354 cells by cDNA Microarray Technology.
Jun Ha Jeon, Yong Wook Jung, Dae Young Yun, Hyun Do Kim, Chang Mo Kwon, Young Hoon Hong, Jae Ryong Kim, Choong Ki Lee
Yeungnam Univ J Med. 2007;24(1):24-40.   Published online June 30, 2007
DOI: https://doi.org/10.12701/yujm.2007.24.1.24
  • 1,490 View
  • 2 Download
AbstractAbstract PDF
BACKGROUND
Accumulating evidence shows that interleukin(IL)-1 plays a critical role in inflammation and connective tissue destruction observed in both osteoarthritis and rheumatoid arthritis. IL-1 induces gene expression related to cytokines, chemokines and matrix metalloproteinases by activation of many different transcription factors. MATERIALS AND METHODS: The chondrosarcoma cell line, SW1353, is known to be a valuable in vitro system for investigating catabolic gene regulation by IL-1beta in chondrocytic cells. To explore and analyze the changes in gene expression by IL-1 responsible for arthritis, SW1353 was treated with IL-1 for 1, 6 and 24 h and then total RNAs were purified for each time. The changes in gene expression were analyzed with 17k human cDNA microarrays and validated by semi-quantitative RT-PCR. RESULTS: Greater than a two-fold change was observed in 1,200 genes including metallothioneins, matrix metalloproteinases, extracellular matrix proteins, antioxidant proteins, cytoskeleton proteins, cell cycle regulatory proteins, proteins for cell growth and apoptosis, signaling proteins and transcription factors. These changes appeared to be correlate with the pathophysiological changes observed in early osteoarthritis. CONCLUSION: cDNA microarray analysis revealed a marked variability in gene expression, and provided insight into the overall molecular changes. The result of this study provide initial information for further studies to identify therapeutic targets in osteoarthritis pathogenesis.
Microbial Genome Analysis and Application to Clinical Bateriology.
Sung Kwang Kim
Yeungnam Univ J Med. 2002;19(1):1-10.   Published online June 30, 2002
DOI: https://doi.org/10.12701/yujm.2002.19.1.1
  • 1,412 View
  • 2 Download
AbstractAbstract PDF
With the establishment of rapid sequence analysis of 16S rRNA and the recognition of its patential to determine the phylogenetic position of any prokaryotic organism, the role of 16S rRNA similarities in the present species definition in bacteriology need to be clarified. Comparative studies clearly reveal the limitations of the sequence analysis of this conserved gene and gene product in the determination of relationship at the pathogenic strain level for which DNA-DNA reassociation exprements still constitute the superior method. Since today the primary structure of 16S rRNA is easier to determine than hybridization between DNA strands, the strength of the sequence analysis is to recognize the level at which DNA pairing studies need to be performed, which certainly applies to similarities of 97% and higher.
Original Articles
A Lateral Cephalometric Study of Maxillofacial Morphologic Features in Class III Malocclusion Children.
Woo Ill Sohn, Ic Jun Chang, Jae Chul Song, Byung Rho Chin
Yeungnam Univ J Med. 2001;18(2):208-214.   Published online December 31, 2001
DOI: https://doi.org/10.12701/yujm.2001.18.2.208
  • 1,706 View
  • 11 Download
AbstractAbstract PDF
BACKGROUND
When we make treatment plan of class III malocclusion children, it is difficult to determine whether we treat it with orthognathic surgery or without orthognathic surgery. To determine that, we must consider many factors, such as cephalometric analysis, growth pattern, family history, and skeletal age. A Harvold cephalometric analysis is useful in determining the amount of discrepancy by comparing the maxillary unit length with mandibular unit length. We tried this study to help the decision of treatment planning in class III malocclusion children by comparison in class III malocclusion and normal occlusion children using a Harvold analysis. MATERIALS AND METHODS: The materials for this study consisted of 20 class III malocclusion children. Cephalometric tracing and measurements were performed by one investigator. The control group consisted of 18 normal occlusion children and lateral cephalograms were obtained from 8.5 to 14.5 years old children biannually. The relationships between class III malocclusion group and normal occlusion group were evaluated statistically. RESULTS: The lower anterior facial heights between two groups were not significantly different, although the lower anterior facial heights of class III malocclusion group was higher than those of normal occlusion group in all age groups. The Maxillary-mandibular unit length differences of class III malocclusion group were significantly higher than those of normal occlusion group(p < 0.05). CONCLUSION: A Harvold analysis was useful to make treatment planning for class III malocclusion children.
Development of Data Acquisition System for Quantification of Autonomic Nervous System Activity and It's Clinic Use.
Dong Gu Shin, Jong Sun Park, Young Jo Kim, Bong Sup Shim, Sang Hak Lee, Jun Ha Lee
Yeungnam Univ J Med. 2001;18(1):39-50.   Published online June 30, 2001
DOI: https://doi.org/10.12701/yujm.2001.18.1.39
  • 1,820 View
  • 2 Download
AbstractAbstract PDF
BACKGROUND
Power spectrum analysis method is a powerful noninvasive tool for quantifying autonomic nervous system activity. In this paper, we developed a data acquistion system for estimating the activity of the autonomic nervous system by the analysis of heart rate and respiratory rate variability using power spectrum analysis. MATERIALS AND METHODS: For the detection of QRS peak and measurement of respiratory rate from patient's ECG, we used low-pass filter and impedence method respectively. This system adopt an isolated power for patient's safety. In this system, two output signnals can be obtained: R-R interval(heart rate) and respiration rate time series. Experimental ranges are 30-240 BPM for ECG and 15-80 BPM for respiration. RESULTS: The system can acquire two signals accurately both in the experimental test using simulator and in real clinical setting. CONCLUSION: The system developed in this paper if efficient for the acquisition of heart rate and respiration signals. The system will play a role in research area for improving our understanding of the pathophysiologic involvement of the autonomic nervous system in various disease states.
Ascitic Fluid Analysis for the Differentiation of Malignancy-Related and Nonmalignant Ascites.
Eun Young Lee, Byeoung Deok Kim, Jae Hyuk Choi, Sang Yeop Lee, Hun Mo Ryu, Kyung Hee Lee, Myung Soo Hyun
Yeungnam Univ J Med. 1999;16(1):76-84.   Published online June 30, 1999
DOI: https://doi.org/10.12701/yujm.1999.16.1.76
  • 1,472 View
  • 1 Download
AbstractAbstract PDF
The differentiation between Malignancy-Related Ascites(MRA) and Non-Malignant Ascites (NMA) is important for further diagnostic and therapeutic procedures. Althought many parameters were investigated, none has provided a complete distinction between MRA and NMA. We investigated several ascitic fluid parameters to determine the differential power, and to ifferentiate malignant-related from nonmalignant-related ascites with a sequence of sensitive parameters followed by specific parameters. For the present sturdy, 80 patients with ascites were divided into two groups: MRA and NMA. The MRA group was consisted of 27 patients with proven malignancy by image study, biopsy, and follow up; 21 of these patients had peritoneal carcinomatosis, but the remaining 6 showed no evidence of peritoneal carcinomatosis. The NMA group was consisted of 53 patients with no evidence of malignancy; among these patients, one had SLE, and others had liver cirrhosis. The samples of blood and ascites were obtained simultaneously, and then the levels of ascites cholesterol, CEA, protein, LDH, cytology, albumin gradient, ascites/serum concentration ratios of LDH(LDH A/S), and ascites/serum concentration ratios of protein(protein A/S) were measured. Applying cut-off limits for determined parameters, we estimated the diagnostic efficacy of each parameter. Among the eight parameters investigated, ascites fluid cholesterol yielded the best sensitive value of 93%(cut-off value 30mg/dl), and cytologic examination and the protein A/S(cut-off value 0.5) showed the most specific value of 100% and 96%, respectively. Based on the above result, the diagnostic sequence with cholesterol as a sensitive parameter, followed by the combination of cytologic examination and protein A/S as specific parameters, was tested in 80 patients. This diagnostic sequence identified 81.5% of patients with malignancy, and all patients with peritoneal carcinomatosis were classified as malignancy-related ascites. In spite of many limitations, this proposed diagnostic sequence may permit a cost-effective and simple differentiation of malignacy-related ascites from nonmalignant ascites
A clinical study of acute carbon monoxide intoxication.
Kyong Chan Choi, Mee Yeung Park, Jung Sang Hah, Yeung Ju Byun, Choong Suh Park
Yeungnam Univ J Med. 1991;8(1):86-97.   Published online June 30, 1991
DOI: https://doi.org/10.12701/yujm.1991.8.1.86
  • 1,579 View
  • 3 Download
AbstractAbstract PDF
To obtain the basic data of prognosis of acute carbon monoxide (CO) intoxication, one hundred and sixteen cases of CO intoxication defined by carboxyhemoglobin (COHb) and admitted via emergency room of Yeungnam University Hospital from Oct. '85 to April' 89 have been clinically analyzed and evaluated, including delayed postanoxic encephalopathy (DPE) and the following results were obtained. 1. The ratio of male to female was 1:1.5 and mental state was drowsy mostly (26.2% of 116 cases) 2. The more disturbed the mental state, the more decreased was the arterial pH and PaCO₂, which may be the result of metabolic acidosis. 3. The early laboratory findings in patients of CO intoxication were as follows: leukocytosis-65.5%, increase of hematocrit-23.3%, hyperglycemia-19.8%, increase of GPT-19.8% increase of creatinine-0.9% and glucosuria-12.1%. 4. The early findings of EKG were abnormal in 35.3%: change of rhythm-25.0%, abnormal ST segment 15.5% (change of rhythm and abnormal ST segment-5.2%) but the conduction disorder was not present. 5. The abnormal EEG above mild degree was 93.1%, of which moderate was most frequent (80.2%). 6. The incidence of DPE was 7.8% among all admitted CO patients. DPE cases had long duration of exposure time (8 hours), severe leukocytosis (20,000) and an abnormal EEG (MA).
Roentgenographic Cephalometric Study for Normal Occlusion in Korean Adults According to the Ricketts Analysis.
Byung Rho Chin
Yeungnam Univ J Med. 1990;7(2):131-139.   Published online December 31, 1990
DOI: https://doi.org/10.12701/yujm.1990.7.2.131
  • 1,474 View
  • 5 Download
AbstractAbstract PDF
The purpose of this study was to assess the skeletal characteristics of the maxillofacial norms and the interpretation of craniofacial relations in Korean adults by applying the Ricketts Analysis. The factors of the applied lateral cephalometric measurements were composed of the 10 factor analysis (Summary Analysis) and 7 internal structures to be suggested by Ricketts. Lateral cephalograms were obtained from 60 subjects over 21 years old that consisted of 30 males and 30 females with normal occlusion, acceptable profile. The results were as follow: 1. The tables of means, standard deviations in each item and sex were made. 2. The author performed whether there was significance (P<0.05) between the registered male and female's measurement in each item.

JYMS : Journal of Yeungnam Medical Science