• Journal of Genetic Medicine
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• v.4 no.2
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• pp.186-189
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• 2007

More than 6,000 rare disorders including genetic diseases have been reported. Of them, 1,500 diseases (1,211 for clinical diagnosis and 289 for research only) are technically possible for genetic testing. In Korea, since 2005, only 63 genetic diseases is permitted for prenatal genetic testing by the "Bioethics and Biosafety Law". The article 25 in the law prescribes 63 genetic diseases without clear indication for its selection and inclusion criteria. In EU, USA, and other foreign countries, however, there is no provision in the statute on prenatal genetic testing; it is not restricted by a law. Recently, a woman (Mrs. L, 38y) who is a carrier for Menkes disease made an appeal to a government for an amendment of the "Bioethics and Biosafety Law" prohibiting the prenatal diagnosis of her pregnancy at risk for Menkes disease. Menkes disease (MNK) is an X-linked recessive disorder characterized by neurodegeneration, connective tissue defects and hair abnormalities, and no effective treatment is available yet. The prevalence rate of MNK is one in about 250,000 live births. Menkes syndrome patients fail to absorb copper from the gastrointestinal tract in quantities adequate for meeting nutritional needs. These needs seem particularly acute during the initial 12 month of life, when the velocity of brain growth and motor neurodevelopment. Most of pts. die around 3yrs. of age. Mrs. L had a boy with Menkes disease who died at 2y.o. in 2001. Subsequent pregnancy in 2003, she was able to have prenatal genetic testing for mutation of the Menkes (ATP7A) gene and delivered a healthy baby boy. Now, She is pregnant again and wants to have prenatal diagnosis. however, this time, she was not allowed to have any more because Menkes disease is not included in 63 genetic diseases permitted by the law for prenatal genetic testing, in spite of the fact that she is a Menkes disease carrier and her pregnancy is at risk to have an affected baby. This case shows the practical problem of the legal restriction for prenatal genetic testing in Korea. In this study, we report a arguable case and discuss the controversial issues in the legal restriction for prenatal genetic testing in Korea.

• Journal of Preventive Medicine and Public Health
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• v.22 no.2 s.26
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• pp.290-301
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• 1989

This is preliminary report on anthrax epidemic occurred in an island with about 100 residents. Since 1982 there had been sudden deaths among all kinds of domestic animals including cattle, dogs, ducks, chicken and goat but only a few among cats in an isolated island about three hours distance away by ferry boat from Mokpo city. From 1986 through 1988 nine human deaths and four patients occurred, which made the government intervene for investigation on June 25 1988. The epidemiological investigation consisted of interview survey and medical examination, medical record analysis, laboratory work to isolate the pathogens under the direction of hypothesis derived from the study and further confirmation of the pathogens by international institute. The summarized results are as followings: 1. According to the interview survey there were many deaths among domestic animals usually in cold and dry season such as January through March and September through November; 36 heads of cattle leaving one head, more than 40 hogs(all), hundreds of chicken leaving few alive, goats that had taken home from mountain and two or three cats out of around 40 had sudden deaths from 1982 till 1985, when the residents stopped to purchase and take them into the island anymore. Also there were eleven persons who had experienced the similar syndrome complex to those of admitted and expired patients and four of them revealed typical chest X-ray findings; from one of these four patients(Rho) B. anthracis is isolated. 2. Medical record on patients who had been admitted, showed common characteristics of the disease course. On admission they had either gastrointestinal or upper respiratory infection symptoms which invariably progressed to septicemic nature with pulmonary interstitial infiltration and mediastinal widening/bulging, and then to deadly acute respiratory distress syndrome. At the end stage chest X-ray revealed multiple bullous emphysema. One of another characteristics was oral ulceration with bleeding occurred in about 50% of the patients. Laboratory test results in common were leukocytosis with left shift and abnormal liver and kidney functions, particularly at the later stage of the illness. 3. Epidemiological characteristics was striking in that both mortality and incidence rates were high: the mortality rate was 8.7% average, male being three times higher than females but there was no distictive clustering by age group. The incidence rate for both sexes was 28.2% and there was no sex difference although a tendency of higher incidence among older ages was noticed. The highest mortality and incidence were observed in Won village where the first death of animal occurred and with the highest frequency among three villages of the island. 4. Among twelve bacilli species isolated from various specimens, two strains, one from patient and the other from soil where the recently died cow is hurried, were confirmed as B. anthracis by Pasteur Institute and CDC of USA(strain from soil). CDC reported that the strain did not produce capsule in bicarbonate media but reacted with the bacteriophage and one of five sera taken from the patients. Mode of transmission as well as incubation period of the agent has not been established yet, which needs further investigation in relation to the antigenic structure of the variant when it is confirmed.

• Childhood Kidney Diseases
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• v.15 no.1
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• pp.58-65
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• 2011

Purpose: Some hormonal and electrolyte abnormalities have been reported in pediatric patients with urinary tract infection (UTI). This study aimed to investigate the relationships between the imbalance of electrolytes and the severity of infection and associated urologic anomalies in children with febrile UTI. Methods: We retrospectively reviewed 267 patients with febrile UTI who were admitted to Korea University Guro Hospital during the period from January, 2007 until February, 2010. According to the presence of hyponatremia or hyperkalemia, clinical parameters and associated renal anomalies, such as hydronephrosis, cortical defects and vesicoureteral reflux, were compared. Results: 42.7% of all patients had decreased concentration of serum sodium. In patients with decreased concentration of serum sodium, cortical defects were significantly increased compared to normal patients (40.4% vs. 14.4%, P <0.05). White blood cell (WBC) counts ($15,721{\pm}6,553/uL$ vs. $12,885{\pm}5,367/uL$, P <0.05), C-reactive protein (CRP) ($61.8{\pm}56.1$ mg/L, vs. $29.9{\pm}39.8$ mg/L, P <0.05), and erythrocyte sedimentation rate (ESR) ($43.9{\pm}34.3$ mm/hr vs. $27.4{\pm}26.8$ mm/hr, P <0.05) in peripheral blood showed significant increases in the group with decreased concentration of serum sodium. Duration of fever, presence of gastrointestinal symptom, the incidence of hydronephrosis and vesicoureteral reflux did not differ between the two groups. None of the patients had significant hyperkalemia. Conclusion : We suggest that decreased concentration of serum sodium in febrile UTI might be a helpful marker for leukocytosis and increased CRP and ESR in peripheral blood, and acute pyelonephritis.

• Journal of Yeungnam Medical Science
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• v.9 no.1
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• pp.29-43
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• 1992

A case-control study was conducted to investigate the association between the risk of cancer and selenium concentration in blood and toenails. Seventy three patients and two hundreds eighty three controls were, selected at the Yeungnam University Hospital between May and September in 1991. The selected cases were patients who had been hospitalized for stomach or colon cancer at the Depertment of General Surgery. The controls were people who visited to check physical examination at the Automated Mediscreening Center. The selenium concentration in whole blood and toenails were measured by atomic absorption spectrophotometer equipped with graphite furnace atomizer. The following information was ascertained for all cancer patients and controls : sex, age, body mass index, blood pressure, total serum cholesterol, and history of smoking and drinking. The mean selenium concentration in blood and toenail for all cancer patients were $143.6{\pm}10.8{\mu}g/l$ and $1.04{\pm}0.62{\mu}g/g$ and for the controls, $167.0{\pm}14.5{\mu}g/l$ and $1.15{\pm}0.55{\mu}g/g$, respectively. The difference in blood and toenail selenium concentrations of the two cancer sites was not statistically significant. Metastasis did not influence the concentration of selenium in blood and toenails. In the multiple logistic regression analysis, the blood selenium concentration($_aOR$: 0.888, 95% CI : 0.860-0.918), age, BMI and total serum cholesterol were significant variables for risk of cancer, but the selelenium concentration in toenail was not shown to be a significant variable in this regression analysis. The coefficient for blood selenium concentration adjusted for age, sex, diastolic blood pressure, total serum cholesterol, body mass index and smoking was -0.1184(p<0.01). These findings suggest that low selenium concentration is associated with gastrointestinal cancers. Further epidemiologic studies including important variables such as other antioxidant micronutrients will be necessary.

• Korean Journal of Psychosomatic Medicine
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• v.10 no.2
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• pp.78-91
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• 2002

Objective : The purpose of this study was to develop the somatization rating scale (SRS), and then to use the scale in clinical pracitice. Methods: First, a preliminary survey was conducted for 109 healthy adults to obtain 40 response items. Second, a preliminary questionnaire was completed by 215 healthy subjects. Third, a comparison was made regarding somatization responses among 242 patients (71 with anxiety disorder. 73 with depressive disorder, 47 with somatoform disorder, and 51 with psychosomatic disorder) and 215 healthy subjects. Results : Factor analysis yielded 5 subscales : cardiorespiratory and nervous responses, somatic sensitivity, gastrointestinal responses, general somatic responses, genitourinary, eye and muscular responses. Reliability was computed by administering the SRS to 62 healthy subjects during a 2-week interval. Test-retest reliability for 5 subscales and the total score was significantly high, ranging between .86-.94. Internal consistency was computed, and Cronbach's ${\alpha}$ for 5 subscales ranged between .72-.92, and .95 for the total score. Convergent validity was computed by correlating the 5 subscales and the total score with the total score of the global assessment of recent stress (GARS) scale, the perceived stress questionnaire (PSQ), and the symptom checklist-90-revised (SCL-90-R). The correlations were all at significant levels. Discriminant validity was computed by comparing the total score and the 5 subscale scores of the patient and control groups. Significant differences were found for 5 subscales and the total score. Only the depressive disorder group was siginificantly higher than control group in all the subscale scores and total scores of SRS among 4 patient groups. In somatic sensitivity, only depressive disorder patients were significantly higher than the normal controls, whereas in general somatic subscale, depressive disorder and somatoform disorder groups were significantly higher than the normal controls. In total scores of the SRS, female subjects were significantly higher than males. Conclusion : These results indicate that the SRS is highly reliable and valid, and that it can be utilized as an effective measure for research in stress- and somatization-related fields. The depressive disorder and somatoform disorder groups showed more widespread somatization than the anxiety and psychosomatic disorder groups.

• Journal of Gastric Cancer
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• v.5 no.4 s.20
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• pp.295-303
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• 2005

The Korean laparoscopic Gastrointestinal Surgery Study Group made a survey of laparoscopic gastric surgeries which were performed in Korea during 2004. Thirty-eight surgeons from 36 Institutions responded to the questionnaires. One thousand eighty-nine laparoscopic gastric operations were performed during 2004. The cumulative number from 1995 to 2004 was about 2,386. Seven hundred fifty-four operations for a gastric adenocarcinoma were performed during 2004 which is almost two times the number performed during 2003. Laparoscopic radical procedures, such as a laparoscopy-assisted distal gastrectomy or total gastrectomy (LADG and LATG) have increased rapidly since 2001 (55 cases in 2001, 150 cases in 2002, 364 cases in 2003 and 738 cases in 2004). Especially, laparoscopic total gastrectomies were explosively adopted last year (20 cases in 2003 and 112 cases in 2004). However, laparoscopic function-preserving gastrectomies, which included one laparoscopy-assisted pylorus-preserving gastrectomy and laparoscopy-assisted proximal gastrectomy, are rarely performed at this time. One hundred forty-two wedge resections for a gastric submucosal tumor were performed during 2004. Hand-assisted laparoscopic surgery (HALS) was performed in 39 cases in 2001, 55 in 2002, and 49 in 2003; however, only 5 such surgeries were performed during 2004. In 2003, laparoscopic bariatric surgery began, and during 2004, 49 operations were performed. In terms of indications of laparoscopic gastric surgery for adenocarcinoma, 19 surgeons performed a LADG only for a T1 lesion, and 7 surgeons extended their indications to T2N0 lesions. In the near future, laparoscopic procedures for gastric cancer will be widely adopted in Korea if the medical-insurance obstacle is overcome, and the long-term survival results are verified.

• Journal of Gastric Cancer
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• v.5 no.4 s.20
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• pp.238-245
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• 2005

Purpose: Ghrelin, produced primarily in the gastrointestinal tract, including the stomach, has been reported to reflect nutritional status and to control homeostasis by influencing food intake and adiposity. The purpose of this study is to evaluate nutritional status, as well as plasma and gastric tissue ghrelin levels, in patients with gastric cancer who underwent a gastrectomy. Materials and Methods: Eighty patients were analyzed by the degree of weight loss $(weight\;loss{\geq}5%\;or\;<5%)$ and the extent of gastrectomy (subtotal or total gastrectomy). Blood samples were collected from all patients preoperatively and postoperatively especially at seven days. Gastric tissues, including tumor and normal tissues, were obtained from the resected stomach. levels of plasma and tissue ghrelin were measured with a commercial ELISA kit. Results: There were no significant differences in the clinical characteristics and ghrelin levels of plasma, gastric tumor tissue and normal tissue by the degree of weight loss. The ghrelin levels in plasma and tumor tissue showed no correlations with each other while the ghrelin level in tumor tissue was significantly lower than that in normal tissue. The degree of cellular differentiation also had an association with ghrelin production. A gastrectomy proved to decrease significantly plasma ghrelin levels, body mass index, and biochemical markers, regardless of the extent of gastric resection. Conclusion: These results show that gastric cancer affects the production of ghrelin in the gastric mucosa and that ghrelin is mainly produced in stomach even though it could be partially covered by endogenous ghrelin from other organs following a gastrectomy. However, we should further investigate which other factors have an impact on energy consumption, ghrelin secretion, and changes in ghrelin levels after a gastrectomy.

• Tuberculosis and Respiratory Diseases
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• v.46 no.5
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• pp.618-627
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• 1999

Background : Rifampicin (RFP) is a key component of the antituberculous short-course chemotherapy. Usually the RFP resistant M.tuberculosis is also resistant to isoniazid (INH), so the RFP resistance is the marker of multi-drug resistant (MDR) tuberculosis. But unusual cases of mono-RFP-resistant tuberculosis have been recently reported with increasing frequency, especially associated with HIV infection in western countries. Therefore, we conducted a retrospective study to investigate the frequency, causes, and the clinical characteristics of mono-RFP-resistant tuberculosis in Korea. Methods : Of the bacteriologically confirmed and susceptibility-proven 699 pulmonary tuberculosis patients (921 isolates) who visited Asan Medical Center from January 1990 to August 1997, eighteen patients with INH-susceptible and RFP-resistant tuberculosis were evaluated. Previous history of tuberculosis, antituberculous drug compliances, associated systemic illness, drug susceptibility patterns, and clinical outcomes were analysed. And rpoB gene sequencing was done in 6 clinical isolates of M. tuberculosis. Results : The mean age of 18 patients was $43{\pm}14$ years, and the sex ratio is 12:6 (M : F). Sixteen (89%) patients had previous history of tuberculosis. None had diagnosed gastrointestinal disorders, and 2 HIV tests that were performed came out negative. Susceptibility tests were done repeatedly in eleven patients, and six (55%) were mono-RFP resistant repeatedly while five (45%) evolved to MDR tuberculosis. Eight (44%) patients were cured, six (33%) failed, three (17%) were lost to follow-up, and the other one is now on treatment. rpoB gene sequencing showed 5 mutations, codon 531 TCG to TIG mutation in 4 isolates and 526 CAC to TAC in 1 isolate. Conclusion : The clinical characteristics of mono-RFP resistant tuberculosis were similar to that of MDR tuberculosis in Korea where the HIV infection rate is lower than western countries. But some patients with mono-RFP-resistant tuberculous could be cured by primary drug regimens including RFP, suggesting that mono-RFP-resistant tuberculous is a different entity from MDR tuberculosis.

• Tuberculosis and Respiratory Diseases
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• v.57 no.3
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• pp.234-241
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• 2004

Background : There has been a gradual increase in the number of newly diagnosed cases of Mycobacterium avium complex (MAC) pulmonary disease. However, the optimal therapeutic regimen for the disease has not yet established and there is no report about the treatment outcome of MAC pulmonary disease in Korea. This study examined the effect of clarithromycin-based regimen in patients with pulmonary MAC disease without a HIV infection. Materials and Methods : Fifty-six patients with pulmonary MAC disease were diagnosed according to the American Thoracic Society criteria from January 2000 to December 2003 at this hospital. Of these patients, 15 were treated with clarithromycin, rifampin, and ethambutol for more than 6 months, together with streptomycin initially (first 6 months) in 8 patients. Results : Six months after the treatment, the sputum cultures converted from positive to negative in 8 patients (53%) and the radiological findings improved in 10 (67%). At 12 months 4 patients (44%) achieved sputum negative conversion and 6 patients out of 9 patients (67%) who were treated for more than 12 months showed radiological improvement. Overall, the sputum findings converted to negative in nine patients (60%) who underwent medical treatment. A pulmonary resection was successfully performed in one patient. Only one patient discontinued the treatment due to side effects such as gastrointestinal intolerance and optic neuritis. Conclusion : A combined regimen containing clarithromycin is relatively safe and tolerable even in the elderly outpatients. However, the results of this combined chemotherapy were unsatisfactory and new companion drugs for MAC pulmonary disease are needed. A resection may be considered for localized disease.

• Journal of Life Science
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• v.19 no.9
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• pp.1226-1231
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• 2009

Enzyme substitution with recombinant phenylalanine ammonia-lyase (PAL, EC 4.3.1.5) is currently being explored for treatment of phenylketonuria (PKU), an autosomal recessive genetic disorder with mutations of the gene encoding phenylalanine-4-hydroxylase (EC 1.14.16.1). However, oral administration of PAL is limited because of proteolytic digestion in the gastrointestinal tract. The aim of this study was to determine the biochemical properties of PAL and delinate the susceptibility of wild-type PAL to pancreatic proteolysis by exploring several mutants, and to develop therapeutic drugs with PAL for PKU. The specific activity of PAL was assayed and its optimal pH, temperature stability, and intestinal protease susceptibility were investigated. Its $V_{max}$ values for phenylalanine and tyrosine were 1.77 and $0.47{\mu}mol$/ min/mg protein, respectively, and its $K_m$ values were $4.77{\times}10^{-4}$ and $4.37{\times}10^{-4}\;M$, respectively. PAL showed an optimal pH at 8.5, corresponding to the average pH range of the small intestine. It showed no loss of activity at $-80^{\circ}C$ for 5 months and possessed 93.4% of its activity under $4^{\circ}C$ for 4 wks. PAL was susceptible to chymotrypsin digestion and, to a lesser extent, to trypsin, elastase, carboxypeptidase A, and B. The trypsin and chymotrypsin cleaving sites were mutated to investigate protection from pancreatic digestion and the specific activities of these mutants were evaluated. The six mutants displayed low specific activities compared to the wild-type, suggesting that the primary trypsin and chymotrypsin cleaving sites may be essential for catalytic reaction. The PAL mutants could therefore be applied as a pretreatment modality without susceptibility to proteolytic attack, however, additional modification for enhancing enzymatic activity is needed to reduce the Phe levels effectively.