• Journal of The Korean Society of Inherited Metabolic disease
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• v.18 no.3
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• pp.87-94
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• 2018

We present the case of long-term observation of a patient with chronic kidney disease (CKD) caused by advanced focal segmental glomerulosclerosis (FSGS) resulting from underlying congenital chloride diarrhea (CLD). A 20-year-old woman was admitted for prolonged proteinuria despite conservative treatment for CLD. She was diagnosed with CLD and started taking KCl salt supplementation from the time of birth. Mild proteinuria was first found at 12 years of age, which progressed to moderate proteinuria at 16 years of age. At 16 years of age, CKD stage 2 with FSGS was diagnosed based on the initial assessment of the glomerular filtration rate (GFR) and kidney histology. On admission, we re-assessed her renal function, histology and genetic analysis. GFR had deteriorated to CKD stage 4 and renal histology revealed an advanced FSGS combined with tubulointerstitial fibrosis. A homozygous mutation in the SLC26A3 gene (c.2063-1G>T) was found by diagnostic exome sequencing and may have been inherited from both parents. CLD patients can be more vulnerable to renal injury, which may also cause progression of renal failure. Therefore, even if there is an early diagnosis and adequate salt supplementation, close monitoring of renal function and tailored treatment should be emphasized for renal protection and favorable CLD prognosis.

• Journal of The Korean Society of Inherited Metabolic disease
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• v.18 no.2
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• pp.35-42
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• 2018

Purpose: To follow up Korean patients with metabolic and endocrine disorders ascertained by Korea Genetics Research Center, and assess the long-term effectiveness of extended newborn screening program in Korea. Methods: From January 2000 to December 2017, tandem mass spectrometry and fluoroimmunoassay were employed in extended newborn screening (NBS). The NBS program obtained dried blood spots from 283,626 babies, 48 hours after birth, and screened for galactosemia, congenital hypothyroidism (CH), congenital adrenal hyperplasia (CAH), and 50 preventable inborn errors of amino acid, fatty acid, and organic acid metabolism. Results: 28 cases of amino acid disorders, 75 cases of organic acid disorders, 27 cases of fatty acid disorders, 51 cases of urea cycle disorders, 127 cases of CH, 14 cases of CAH, and 15 cases of galactosemia were ascertained through NBS and subsequent confirmatory laboratory tests. Patients with amino acid metabolic disorders, galactosemia, CH, or CAH were more likely to have a better long-term outcome if detected early. Early management of MSUD led to much better outcome in over 90%. Despite early intervention, 32% of other organic acidemia cases still resulted in developmental delay and neurological problems. Fatty acid disorders showed varied results; those with EMA and MCAD had a good outcome, but those with VLCAD had serious neurological problems and considerably higher mortality. 75% with UCD experienced serious neurological complications and higher mortality. Conclusion: The nation-wide NBS program must be accompanied by comprehensive long-term management and physician and family education of inborn errors of metabolism for a better outcome.

• Korean Journal of Psychosomatic Medicine
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• v.31 no.2
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• pp.63-71
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• 2023

Urinary incontinence (UI), affecting 3%-11% of males and 25%-45% of females globally, is expected to rise with an aging population. It significantly impacts mental health, causing depression, stress, and reduced quality of life. UI can exacerbate psychiatric conditions, affecting treatment compliance and effectiveness. It is categorized into transient and chronic types. Transient UI, often reversible, is caused by factors summarized in the acronym DIAPPERS: Delirium, Infection, Atrophic urethritis/vaginitis, Psychological disorders, Pharmaceuticals, Excess urine output, Restricted mobility, Stool impaction. Chronic UI includes stress, urge, mixed, overflow, functional, and persistent incontinence. Drug-induced UI, a transient form, is frequently seen in psychiatric treatment. Antipsychotics, antidepressants, and other psychiatric medications can cause UI through various mechanisms like affecting bladder muscle tone, altering nerve reflexes, and inducing other conditions like diabetes or epilepsy. Specific drugs like lithium and valproic acid have also been linked to UI, though mechanisms are not always clear. Managing UI in psychiatric patients requires careful monitoring of urinary symptoms and judicious medication management. If a drug is identified as the cause, options include discontinuing, reducing, or adjusting the dosage. In cases where medication continuation is necessary, additional treatments like desmopressin, oxybutynin, trihexyphenidyl, or amitriptyline may be considered.

• Korean Journal of Culture and Social Issue
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• v.12 no.5_spc
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• pp.99-116
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• 2006

This paper discuss adolescent's a quality of life related with risk behavior. The purpose of this study investigate to influence on risk behavior(runaway, smoking, sexual behavior) of the protective factors that moderate adolescent's problem behavior(delinquency). The assumption of this study that the protective factors counterbalance the negative influence of risk factors and finally, diminish a the problem behavior including a delinquent. A total of 1,020 students of a vocational high schook and a 216 adolescents of a special groups(the public institution that consisted with a delinquent young man) completed the questionnaires(risk behavior, 5 protective factors) of compiled by this researcher. The protective factors have selected based on the various prior studies analyzed with adolescent's risk behavior a family functioning, a father(a mother) each and child communication, a self efficacy, and a social support. Statistics appled for the data analysis are Chisqure analysis, two-way ANOVA, and Standard Discrimination analysis. The results of this study are as follows. First, the special group is higher than the general group in the rate of runaway, smoking, and sexual deviant behavior. Second, the protective factors are not action in the special group have experienced delinquency, but are only action in the general group consisted with the students of a vocational high schools. This means that the protective factors discriminating the participation of the risk behaviors, and blocking out the intervention of a problem behavior in the general adolescents. Although each protective factor influence to different according to each risk behavior, a role of a parent-child communication, a family functioning, and self-efficacy high orderly. Finally, discussed based on the previous studies that the protective factors moderate the negative influence of risk factors, offset the connection between a risk behavior and a. problem behavior, and improve and a resilience and the quality of life of the adolescents.

• Clinical and Experimental Pediatrics
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• v.52 no.11
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• pp.1260-1266
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• 2009

Purpose : Idiopathic nephrotic syndrome (NS) can be clinically classified as steroid-sensitive and steroid-resistant. The detailed mechanism of glucocorticoid action in NS is currently unknown. Methods : In this study, we investigated 3 known single nucleotide polymorphisms (SNPs) (ER22/23EK, N363S, and BclI) of the glucocorticoid receptor gene (the NR3C1 gene) in 190 children with NS using polymerase chain reaction-restriction fragment length polymorphism and analyzed the correlation between the genotypes and clinicopathologic features of the patients. Results : Eighty patients (42.1%) were initial steroid nonresponders, of which 31 (16.3% of the total) developed end-stage renal disease during follow-up. Renal biopsy findings of 133 patients were available, of which 36 (31.9%) showed minimal changes in NS and 77 (68.1%) had focal segmental glomerulosclerosis. The distribution of the BclI genotypes was comparable between the patient and control groups, and the G allele frequencies in both the groups were almost the same. The ER22/23EK and N363S genotypes were homogenous as ER/ER and NN, respectively, in all the patients and in 100 control subjects. The BclI genotype showed no correlation with the NS onset age, initial steroid responsiveness, renal pathologic findings, or progression to end-stage renal disease. Conclusion : These data suggested that the ER22/23EK, N363S, and BclI SNPs in the NR3C1 gene do not affect the development of NS, initial steroid responsiveness, renal pathologic lesion, and progression to end-stage renal disease in Korean children with NS.

• Sleep Medicine and Psychophysiology
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• v.2 no.1
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• pp.73-81
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• 1995

Objective : Patients with sleep apnea should be diagnosed with polysomnography(PSG). However, it is not easy to recommend PSG for all patients suspected with sleep apnea in practice. Therefore, we tried to develop the screening test for referral of PSG. Method : 140 patients with snoring and sleep apnea syndrome were studied by the PSG. Sleep apnea questionnaire. Zung's scale for depression. Stanford Sleepiness Scale(SSS), insomnia scale and neuropsychological test were administered. Also, blood pressure, height, weight and neck circumference were measured and some histories were taken. Correlations between respiratory disturbance index(RDI) and various parameters mentioned above and discriminant coefficients of the parameters to RDI were computed. And, we investigated sensitivities of screening tests for selection of the patients with RDI above 20. Results : Using six parameters(neck circumference, systolic blood pressure before sleep, degree of alcohol drinking, frequency of breath-holding during sleep, degree of dry mouth during sleep, sleep apnea score), the patients with RDI above 20 could be discriminated in 92.8% sensitivity. In case of more than two among six parameters(neck circumference of above 40cm, systolic blood pressure of above 125mmHg, frequent alcohol drinking, frequent breath-holding during sleep, frequent dry mouth during sleep, sleep apnea score of above 35), same patients could be discriminated in 87.6% sensitivity. And, in case of more than one among four parameters(neck circumference of above 40cm. systolic blood pressure of above 125mmHg, frequent alcohol drinking, body weight of above 80kg), discrimination sensitivity was 83.5%. Conclusions : Patients with RDI above 20 could be discriminated by above parameters with high sensitivity. Therefore, the screening test using above parameters can be applied in selection of the patients with sleep apnea for PSG in practice.

• Childhood Kidney Diseases
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• v.16 no.2
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• pp.73-79
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• 2012

Purpose: The association of mitochondrial DNA (mtDNA) mutations, deletions and copy number with progressive changes in patients with some glomerular disease and end-stage renal disease have been reported. In this study, we performed mtDNA mutation analysis in children with IgA nephropathy to investigate its role in progressive clinical course. Methods: Seven children with IgA nephropathy were involved in this study. MtDNA isolated from platelet was amplified by PCR and sequenced entirely. Results: The mean age at renal biopsy was $11.5{\pm}2.2$ year and the mean age at latest evaluation was $17.9{\pm}3.2$ year. The mean follow-up period were $7.8{\pm}3.1$ years. Patients was divided into 2 groups according to the amount of proteinuria at presenting manifestation. Group 2 patients were nephrotic syndrome. Renal function reveals within normal range in all patients. In group 2 patients, the mean serum albumin level was significantly lower than those of group 1 ($3.7{\pm}0.6g/dL$ vs. $4.7{\pm}0.2g/dL$, P=0.0241) and the mean total cholesterol level was significantly higher than those of group 1 ($222.7{\pm}35.7mg/dL$ vs. $148.3{\pm}29.1mg/dL$, P=0.0283). In Group 2 patients, total amount of protein of 24 hour collected urine also significantly higher than those of group 1 ($1,466.0{\pm}742.5mg$ vs. $122.5{\pm}48.1mg$, P=0.0135). Pr/Cr ratio in random urine sample was also higher in group 2 than those of group 1 but the statistical significance was not noted ($1.8{\pm}1.6$ vs. $0.2{\pm}0.2$, P=0.0961). Deletion of mtDNA nt 8272-8281 were observed in two patients, one patient in each groups, respectively. This is noncoding lesion. No patients demonstrated the mtDNA mutations. Conclusions: We have identified a deletion of mtDNA nt 8272-8281 in two children with IgA nephropathy. Further studies are needed to clarify the role of mitochondrial function in the progressive change of IgA nephropathy.

• Journal of Korean Home Economics Education Association
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• v.20 no.4
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• pp.173-186
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• 2008

This study aimed to examine the operation of the Home Economics education courses in the graduate schools of education, and to find out how graduate students perceive them. Data were collected with the use of handbooks issued by 11 graduate schools of education located in Seoul, and through telephone conversations with the administrative staff. To determine how graduate students majoring in Home Economics perceive their Home Economics courses, a survey was conducted among the graduate students in 10 graduate schools of education, and a total of 131 accomplished questionnaires were used for data analysis. The results of the study are as follows. First, all 11 graduate schools aimed to retrain their teachers, enhance their professionalism, and produce home economics education experts. The Home Economics Education courses come in two strands; a teacher's course and a major course. Most of the schools require a total of 30 credits. All Schools lack professors. Only 3 graduate schools have a home Economics Department in the College of Education. All graduate schools are offering a teacher's course based on a teacher's certification system. In a major course, Home Economics education has the largest number of subjects, with Clothing and Textiles and Food and Nutrition being given greater emphasis, and Consumer Economics, Home Economics Management, Child Care, and Family and Housing Studies being given less emphasis. Second, they mostly regard the graduate school of education as producer of experts, followed by producers of teachers and teacher re-trainers. Those who were majoring in Home Economics Education in college, and the teachers, are more interested in teacher re-training, while the non-teachers and those who were not majoring in Home Economics Education are more interested in producing teachers. They are less satisfied with the operation of the graduate school of education. But they are generally satisfied with the Home Economics Education course. Graduate students registered the lowest satisfaction with a major course, especially experimental subjects. For a teacher's course, the graduate students who are not teachers exhibited higher satisfaction, whereas the teachers showed lower satisfaction. But teachers registered more satisfaction with the practical use of major subjects in the educational field, thinking that their major was a big help in their work at a school. As for what has to be improved with regard to the Home Economics Education course, many cited the necessity of securing a good faculty and expanding the major subjects.

• Journal of Preventive Medicine and Public Health
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• v.29 no.4 s.55
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• pp.801-814
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• 1996

Background: Korean people could abuse healthy foods as well as medications, which might cause serious side effects. The aim of this study was elucidating liver dysfunction due to the self-medications of hepatotonics, healthy foods and herb medications by nested case-control study. Methods: Study subjects were drawn from male members of Seoul Cohort Study who were recruited by self-administered structured questionnaire survey through mailing to the healthy men between the age of 40 and 59 years through the program of biennial health check-up offered by Korea Medical Insurance Corporation(KMIC). The liver dysfunction was defined as the level of serum AST and ALT above 40 IU/L and increased in more than one hunderd per-cent during the 2 year follow-up period. To estimate the odds ratio between self-medication and liver dysfunction after controlling for potential confounders, logistic regression was performed. Results: During the follow-up period, 30 members were identified to fit into case criteria and 2,625 members were selected as control. In logistic regression analyses, history of healthy foods intake, age under 45 years, obesity, and habit of regular exercise were significantly associated with liver dysfunction. The following factors exhibited no statistical significance: intake of hepatotonics, of herb medicine; history of disease in family, of operation, and of radiologic examination; smoking habits and drinking amounts. Conclusion: The significant association between the intake of healthy foods and the liver dysfunction illustrates that chronically optional overuse of healthy foods might bring to hazards to health. As the increasing trend of the size of purchasing healthy foods in Korea, pharmacoepidemiologic studies evaluating the safety and efficacy of the widely used healthy foods should be performed in the near future.

• Childhood Kidney Diseases
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• v.7 no.2
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• pp.125-132
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• 2003

Purpose : Lipoprotein(a) is a genetically determined risk factor for atherosclerotic vascular disease and is elevated in patients with renal disease. Especially the patients with nephrotic syndrome exhibit excessively high Lp(a) plasma concentrations. Also the patients with end-stage renal disease have elevated Lp(a) levels. But the mechanism underlying this elevation is unclear. Thus, in this study, by measuring the level of serum Lp(a) in common renal diseases in children, we hoped to see whether there would be a change in Lp(a) in renal diseases other than nephrotic syndrome. Then, we figured out its implications, and looked for the factors that affect the Lp(a) concentrations. Methods : A total of 75 patients(34 patients with hematuria of unknown etiology, 10 with hematuria and hypercalciuria, 8 with IgA nephropathy, 8 with poststreptococcal glomerulone phritis, 3 with $Henoch-Sch\"{o}nlein$ nephritis, 7 with urinary tract infection, and 5 with or- thostatic proteinuria) were studied. The control group included 20 patients without renal and liver disease. Serum Lp(a), total protein, and albumin levels, 24-hour urine protein and calcium excretions, creatinine clearance and the number of RBCs and WBCs in the urinary sediment were evaluated. Data analysis was peformed using the Student t-test and a P-value less than 0.05 was considered to be statistically significant. Results : LP(a) was not correlated with 24-hour urine calcium and creatinine. Lp(a) level had a positive correlation with proteinuria and negative correlation with serum albumin and serum protein. Among the common renal diseases in children, Lp(a) was elevated only in orthostatic proteinuria (P<0.05). Conclusion : Lp(a) is correlated with proteinuria, serum protein, and serum albumin, but not with any kind of specific renal disease. Afterward, Lp(a) needs to be assessed in patients with orthostatic proteinuria and its possible role as a prognostic factor could be confirmed.