• Childhood Kidney Diseases
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• v.9 no.2
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• pp.222-230
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• 2005

Purpose : ARC syndrome refers to an association of arthrogryposis, renal tubular dysfunction, and cholestasis. The VPS33B gene was recently identified as the causative gene. So far, 41 cases of ARC syndrome have been reported worldwide, and it has rarely been reported in Korea. This study was conducted to report the clinical findings of seven ARC syndrome cases in Korean children, focusing especially on renal tubular dysfunction. Methods : The hospital records of 7 cases diagnosed as ARC syndrome at Severance Hospital between Mar. 1995 and Aug. 2005 were reviewed and analyzed. Results : Of the 7 cases, 4 were boys and 3 were girls. Six patients(85$\%$) were born with normal birth weight at term, and one was born at preterm. All cases presented with cholestasis and severe jaundice. According to the type of arthrogryposis described by Brown et al, type 3 and 4 were found in 2 patients and type,6, 7, and the undistributed type in one patient respectively. Other associated clinical findings were as follows : failure to thrive in 6(85$\%$), lax skin in 5(71$\%$), and gray platelet syndrome in 4(57$\%$). Urine analysis revealed 6 cases(85$\%$) with proteinuria, 3(43$\%$) with hematuria, 5(71$\%$) with glycosuria, 2(29$\%$) with phosphaturia and 2(29$\%$) with calciuria. Serum electrolytes showed 4 cases(57$\%$) with hyponatremia, 3(43$\%$) with hypokalemia, and 1(14$\%$) with creatinine elevation. Renal tubular dysfunctions were diagnosed as renal tubular acidosis in 6 cases(85$\%$), nephrogenic diabetes insipidus in 2(29$\%$), and Fanconi syndrome in 2(29$\%$). During the follow-up period, 2(29$\%$) had no treatment, 5(85$\%$) had continuous supplementation to correct the electrolyte imbalance and acidosis, and 1(14$\%$) had dialysis. Only one patient had a family history of ARE syndrome in a sibling. Four cases(57$\%$) were diagnosed at the mean age of 8.2 months, and one case was lost during follow-up. Ages of the survived 2 cases were 13 and 25 months, respectively. Conclusion : The rare disease of ARC syndrome Is associated with severe renal dysfunction. However, this study revealed that the renal manifestation of ARC syndrome in Korean children is relatively mild and survival rate is higher than that of previous studies. Contrary to previous reports, this study showed that familial cases are rare and sporadic occurence is possible in Korea. Thus, the diagnosis of this syndrome requires a careful evaluation of the venal function in cases of congenital arthrogryposis, and a mandatory genetic counseling of affected family for prevention of familial occurance. (J Korean Soc Pediatr Nephrol 2005;9:222-230)

• Journal of Genetic Medicine
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• v.8 no.2
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• pp.89-99
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• 2011

Over the years Korean health care system has improved in delivery of quality care to the general population for many areas of the health problems. The system is now being recognized in the world as the most cost effective one. It is covered by the uniform national health insurance policy for which most people in Korea are mandatory policy holders. Genetic counseling service, however, which is well recognized as an integral part of clinical genetics service deals with diagnosis and management of genetic condition as well as genetic information presentation and family support, is yet to be delivered in comprehensive way for the patients and families in need. Two major obstacles in providing genetic counseling service in korean health care system are identified; One is the lack of recognition for the need for genetic counseling service as necessary service by the national health insurance. Genetic counseling consumes a significant time in delivery and the current very low-fee schedule for physician service makes it very difficult to provide meaningful service. Second is the critical shortage of qualified professionals in the field of medical genetics and genetic counseling who can provide the service of genetic counseling in clinical setting. However, recognition and understanding of the fact that the scope and role of genetic counseling is expanding in post genomic era of personalized medicine for delivery of quality health care, will lead to the efforts to overcome obstacles in providing genetic counseling service in korean health care system. Only concerted efforts from health care policy makers of government on clinical genetics service and genetic counseling for establishing adequate reimbursement coverage and professional communities for developing educational program and certification process for professional genetic counselors, are necessary for the delivery of much needed clinical genetic counseling service in Korea.

• Applied Biological Chemistry
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• v.22 no.4
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• pp.198-209
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• 1979

L-Tyrosine, 2-chloro-L-tyrosine, 2-bromo-L-tyrosine, and 2-iodo-L-tyrosine were synthesized by ${\beta}-tyrosinase$ obtained from cells of Escherichia intermedia A-21, through the reversal of the ${\alpha},{\beta}-elimination$ reaction, and their molecular structures were analyzed by element analysis, NMR spectroscopy, mass spectrometry and IR spectroscopy. Rates of synthesis and hydrolysis of halogenated tyrosines by ${\beta}-tyrosinase$, inhibition of the enzyme activity by halogenated phenols, and effects of addition of m-bromophenol on the synthesis of 2-bromotyrosine were determined. The results obtained were as follows: 1) In the synthesis of halogenated tyrosines, the yield of 2-chlorotyrosine from m-chlorophenol were approximately 15 per cent, that of 2-bromotyrosine from m-bromophenol 13.8 per cent, and that of 2-iodotyrosine from m-iodophenol 9.8 per cent. 2) Rate of synthesis of halogenated tyrosines by ${\beta}-tyrosinase$ was slower than that of tyrosine and the rates were decreased in the order of chlorine, bromine and iodine, that is, by increasing the atomic radius. Relative rate of 2-chlorotyrosine synthesis was determined to be 28.2, that of 2-bromotyrosine to be 8.13, and that of 2-iodotyrosine to be 0.98, respectively, against 100 of tyrosine. However 3-iodotyrosine was not synthesized by the enzyme. 3) The relative rate of 2-chlorotyrosine hydrolysis by ${\beta}-tyrosinase$ was 70.7, that of 2-bromotyrosine was 39.0, and that of 2-iodotyrosine was 12.6 against 100 of tyrosine, respectively. The rate of hydrolysis appeared to be decreased in the order of chlorine, bromine and iodine, that is, by increasing the atomic radius or by decreasing the electronegativity. But 3-iodotyrosine was not hydrolyzed by the enzyme. 4) The activity of ${\beta}-tyrosinase$ was inhibited by phenol markedly. Of the halogenated phenols, o-, or m-chlorophenol and o-bromophenol gave marked inhibition on the enzyme action, however inhibition by iodophenol was not strong. Plotting by Lineweaver-Burk method, a mixed-type inhibition by m-chlorophenol was observed and its Ki value was found to be $5.46{\times}10^{-4}M$. 5) During the synthesizing reaction of 2-bromotyrosine by the enzyme, sequential addition of substrate which was m-bromophenol with time intervals and in a small amount resulted in better yield of the product. 6) The halogenated tyrosines which were produced by ${\beta}-tyrosinase$ from pyruvate, ammonia and m-halogenated phenols were analysed to determine their molecular structures by element analysis, NMR spectroscopy, mass spectrometry, and IR spectroscopy. The result indicated that they were 2-chloro-L-tyrosine, 2-bromo-L-tyrosine, and 2-iodo-L-tyrosine, respectively.

• Journal of agricultural medicine and community health
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• v.20 no.1
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• pp.1-13
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• 1995

Based on the questionnaires sent to 270 nurses of public health centers in kyungnam during the period of March 19 to April 11 in 1992, this study was written for the of finding out the grade of satisfaction, obstacles in carrying out duties concerned with nursing services and the change of nurses role needed according to the change of the local public health administration. The first-ranking tasks carried by nurses of public health center are believed to have been family planning activities before the 1970's, nursing services during the 1970's, mother-child health activities during the 1980's, and nursing services during the period of 1990 to 1992. As far as the priority order of all the family planning activities is concerned, the counseling of the insertion of intrauterine contraceptive device, the use of oral pill or the distribution of condom was placed emphasis on before 1970, and publicity activities of family planning after that time. The first priority order of mother-child health activities has been put on the registration of pregnant women since 1970, with prenatal examination and vaccination ranking next to it. The priority order for activities against tuberculosis was laid on finding out and registration of new T.B. patients every year, with patients' control, and medication or injection ranking next to it. As for the priority order of nursing services, traveling medical examination and treatment ranked the first-stressed activity before 1970, with medication and injection ranking next to it. The first priority order management activity of communicable diseases was put on vaccination before 1970, with medication and injection. ranking next. And consultation and education ranked second to it during 1990 to 1992. As for the health services of the aged, traveling examination and treatment ranked the order, with the assistance of medical examination ranking next to it. As far as troubles and obstacles shown in case of family planning, the rate of residents' lack understanding was 28.8%, that of lacking budget 13.6%, and the imperfection of public health administration system 11.9%. In the case of tuberculosis control, residents' lacking understanding was 32.5%, the deficiency of public health administration system 18.2%, over-duty(shortage of hands) 15.6%, and the insufficiency skill and know-how 13.0%. In the case of nursing services, the deficiency of public health administration system was 18.2%, each over-duty(the shortage of hands) and the shortage of facilities and equipment 15.6% respective, and residents' lacking understanding 13.0%. The rate of dissatisfaction with the chance or possibility of promotion for his or her career or capability was shown to be 49.2%, and 65.9% of the health nurses expressed their complaints of the deficiency of the chance of the promotion to a professional or expert. when the public health nurses were asked in the questionably whether they were satisfied or not with current state of equipment and facilities needed for public health service, 49.6% of them answered in the negative. The grade of the satisfaction with the current individual position was shown to be low as much as the status of his or her position was now. 37.6% of those asked in the research answered to have the readiness to switch jobs for the reasons of dissatisfaction and so on with lacking promotion chance as well as bad working condition. Significant correlation between the grade of job satisfaction and the current status of the po as found to be in this research, which showed that the lower the status of position was, the lower the grade of job satisfaction was. But little correlation between the grade of job satisfaction and his or her schooling and career was found. In order to carry out primary health care successfully, it can be said that more education and publicity activities to make public health nurses and residents see it in a new light are requested. In addition to it, it is suggested that the improvement of promotion system for public health nurses and the enlargement of job province should also be taken in consideration of the high dissatisfaction with and complaints of the chance of promotion and the system of position. In order words, it is important that considerations for system improvement enough to make nursing services pleasant and satisfactory should be taken into.