Background: Charcot-Marie-Tooth disease type 1A (CMT1A) is caused by duplication of the 17p12 region including PMP22 gene. In CMT1A patients, anticipation showing increased severity by generations has been reported in the CMT1A patients. It has also been reported that severity increases in the non-de novo cases than in the de novo cases. This study was performed to examine epigenetic differences between CMT1A cases and controls as well as between de novo cases and non-de novo cases. Methods: This study examined 40 Korean CMT1A patients and 11 controls. Methylation level was determined using the SureSelect XT Methyl-Seq reagent kit and bisulfite sequence mapping program. Results: Many differentially methylated CpG sites (DMCs) were identified in the comparisonbetween cases and controls and between de novo cases and non-de novo cases. Most DMCs were located within or nearby genes related to the nervous system, mental stress, and motor ability. Conclusions This study is the first epigenetic study to uncover the mechanism of clinical heterogeneity among CMT1A patients. We suggest that weak severity in the de novo cases than the non-de novo cases may be related to the epigenomic differences in the nerve and stress-related genes.

Fecal microbiota transplantation (FMT) is a highly efficacious and safe modality for the treatment of recurrent or refractory Clostridioides difficile infection (CDI), with overall success rates of 90%. Thus, FMT has been widely used for 10 years. The incidence and clinical characteristics of CDI, the main indication for FMT, differ between countries. To date, several guidelines have been published. However, most of them were published in Western countries and therefore cannot represent the Korean national healthcare systems. One of the barriers to performing FMT is a lack of national guidelines. Accordingly, multidisciplinary experts in this field have developed practical guidelines for FMT. The purpose of these guidelines is to aid physicians performing FMT, which can be adapted to treat CDI and other conditions.

Eosinophilic gastroenteritis is a rare disease characterized by prominent eosinophilic tissue infiltration of the gastrointestinal tract. Here, we report a case of eosinophilic gastroenteritis in an 18-year-old patient with prolonged nephrotic syndrome who presented with abdominal pain and peripheral hypereosinophilia. During the previous 2 years, he had visited local Emergency Department several times because of epigastric pain and nausea. He had been treated with steroid-dependent nephrotic syndrome since 3 years of age. Tests ruled out allergic and parasitic disease etiologies. Gastroduodenoscopy with biopsy revealed marked eosinophilic infiltration in the duodenum. Renal biopsy findings indicated minimal change disease spectrum without eosinophilic infiltration. The oral deflazacort dosage was increased, and the patient was discharged after abdominal pain resolved. To our knowledge, this is the first report of eosinophilic gastroenteritis in a patient with minimal change disease.
Abdominal Pain ; Adolescent* ; Biopsy ; Duodenum ; Emergency Service, Hospital ; Eosinophilia ; Eosinophils* ; Gastroenteritis* ; Gastrointestinal Tract ; Humans ; Male* ; Nausea ; Nephrosis, Lipoid ; Nephrotic Syndrome* ; Parasitic Diseases ; Rare Diseases

PURPOSE: This study was done to investigate factors affecting perceived financial burden of medical expenditures. METHOD: The participants were 2,024 inpatients who were enrolled in a survey on the benefit coverage rate of the National Health Insurance in 2006. The collected data were analyzed using t-test, ANOVA-test, Mann-Whitney-test, Kruskal-Wallis-test, Chi-square test and logistic regression. RESULTS: The crucial factors for perceived financial burden were age, job, equivalence scale, ratio of annual family income vs medical expenditure, and private health insurance. Perceived financial burden was higher for people who were older, who were unemployed, whose medical expenditures were high compared to annual family income, whose index of family equalization was low and for those who had no private health insurance. CONCLUSION: The results of the study indicate a demand for system reform that will enable management of no-pay hospital bills in the National Health Insurance to decrease the medical expense of people in the low-income bracket.
Health Expenditures ; Humans ; Inpatients ; Insurance, Health ; National Health Programs

OBJECTIVE: The study was conducted to investigate the association between economic status and depressive symptoms by comparing the prevalence rates of depressive symptoms at community level and analyzing the possibility of depressive symptoms at individual level. METHODS: A survey was conducted from November, 2006 to November, 2007 on 966 and 992 representative subjects recruited by stratified clustered sampling in two regions located in Seoul. We used a standardized questionnaire including the Center for Epidemiologic Studies-Depression and questions on the socioeconomic characteristics. The adjusted prevalence rates of depressive symptoms were compared at community level, and multiple logistic regression analysis was performed to determine the association between depressive symptoms and economic statuses at individual level among each region. RESULTS: The adjusted prevalence of depressive symptoms was higher in the region with a high socioeconomic status (23.1%) than in the region with a lower economic status (16.6%)(p<0.001). However, logistic regression analysis of individual level revealed that a higher economic status was significantly associated with a lower possibility of depressive symptoms among the females in the low economic status region. This tendency was not observed among the males in both of the regions. CONCLUSION: The association between economic status and depressive symptoms was found to be different when it was approached at community level or individual level. In addition, the association of two variables was different by gender at individual level. Further studies that consider the third mediators are needed to determine the association between the two variables.
Depression ; Female ; Humans ; Logistic Models ; Male ; Prevalence ; Surveys and Questionnaires ; Social Class

BACKGROUNDS: Gestational diabetes mellitus (GDM) is defined as glucose intolerance with onset or first detection during pregnancy and mostly caused by insulin resistance and beta-cell dysfunction like type 2 diabetes. However, autoimmune or monogenic diabetes can contribute to GDM. Maturity-onset diabetes of the young (MODY) is a monogenic form of diabetes characterized by an early age of onset and an autosomal dominant pattern of inheritance. Most MODY cases are attributable to mutations in HNF-1alpha gene, also known as MODY3. We investigated whether mutations in HNF-1alpha gene are present in Korean women with GDM. METHODS: A total of 96 Korean women with GDM who have a family history of DM were screened for mutations in the HNF-1alpha gene. We evaluated the clinical characteristics of GDM women with HNF-1alpha gene mutations. RESULTS: Five of 96 patients (5.2%) were found to have a mutation in HNF-1alpha gene. Four of those (-23C > G, 833G > A (Arg278Gln), 923C > T, IVS5 + 106A > G) were novel and one (-124G > C) in promoter region was reported in previous study. The mean age of GDM women with mutations of HNF-1alpha gene was 34 years. Four women with MODY3 gene mutations required insulin therapy during pregnancy. GDM women with MODY3 gene mutations appeared to be decreased insulin secretion (HOMA-%B) than those without mutations. CONCLUSIONS: We have found the existence of MODY3 as well as novel HNF-1alpha gene mutations in Korean women with GDM.
Age of Onset ; Diabetes Mellitus, Type 2 ; Diabetes, Gestational ; Female ; Glucose Intolerance ; Hepatocyte Nuclear Factor 1-alpha ; Humans ; Insulin ; Insulin Resistance ; Mass Screening ; Pregnancy ; Promoter Regions, Genetic ; Wills

PURPOSE: The first Korean national population- based cancer registry using nationwide hospital-based recording system and the regional cancer registries provided the source to obtain national cancer incidences for the period 1999~2001. MATERIALS AND METHODS: The incidence of cancer in Korea was calculated based on the Korea Central Cancer Registry database, data from additional medical record review survey, the Regional Cancer Registry databases, site-specific cancer registry databases, and cancer mortality data from the Korea National Statistical Office. Crude and age-standardized rates were calculated by sex for 18 age groups. RESULTS: The overall crude incidence rates (CR) were 247.3 and 188.3 per 100, 000 for men and women and the overall age-standardized incidence rates (ASR) were 281.2 and 160.3 per 100, 000, respectively. Among men, five leading primary cancer sites were stomach (CR 58.6, ASR 65.6), lung (CR 42.1, ASR 50.9), liver (CR 41.9, ASR 44.9), colon and rectum (CR 24.2, ASR 27.3) and bladder (CR 7.7, ASR 9.2). Among women, the most common cancers were stomach (CR 30.8, ASR 25.8), breast (CR 25.7, ASR 21.7), colon and rectum (CR 19.6, ASR 16.7), uterine cervix (CR 18.4, ASR 15.5), and lung cancer (CR 15.1, ASR 12.4). In 0~14 age group, leukemia was most common for both sexes. For men, stomach cancer was most common in 15~64 age group, but lung cancer was more frequent for over 65 age group. For women, thyroid cancer in 15~34 age group, breast cancer in 35~64 age group, and stomach cancer in over 65 age group were most common for each age group. The proportions of death certificate only were 7.5% for men and 7.4% for women. CONCLUSION: This is the first attempt to determine the national cancer incidence and this data will be useful to plan for research and national cancer control in Korea.
Breast ; Breast Neoplasms ; Cervix Uteri ; Colon ; Death Certificates ; Female ; Humans ; Incidence* ; Korea* ; Leukemia ; Liver ; Lung ; Lung Neoplasms ; Male ; Medical Records ; Mortality ; Rectum ; Registries ; Stomach ; Stomach Neoplasms ; Thyroid Neoplasms ; Urinary Bladder

The Korea School Lunch Program mandates that school meals should safeguard the health and well-being of our children. School meals provide a nutritious diet that contains at least 1/3 of the daily Recommended Dietary Allowances of necessary nutrients at reasonable prices. This study was performed to assess the nutritional management of primary school meals, and to provide basic data for improvement of school meal nutritional guidelines. Three hundred and thirty six dietitians who worked at primary schools were recruited using a stratified sampling method. A survey was done by e-mail with a set of questionnaires about nutritional meal management. During school lunch planning, dietitians referred nutrition standards with priority, followed by students' food preferences and food hygiene. They considered energy as a most important nutrient during primary school lunch planning, followed by protein and calcium. Protein is usually over-served, whereas iron, vitamin A and calcium are usually under-served during primary school meal planning. For first and second grade primary students, grains, meat and vegetable side dishes seemed to be large compared to their eating capacity. Over 92% of school dietitians agreed the needs of food group standards for primary school lunch program. For making a checklist of the school lunch program, energy, protein and calcium were highly recommended, and meat.fish.egg group, vegetable.fruit group and dairy group were also highly recommended by school dietitians. Cooking method was also highly recommended. School dietitians proposed that remodeling of school kitchens and new cooking machine were the most important factors for improving school lunch system. These results suggest that food standards should be established for health-oriented nutritional management of primary school lunch programs. Nutritional checklists could include nutrient-rich foods and food groups, and items about cooking methods.
Calcium ; Edible Grain ; Checklist ; Child ; Cooking ; Diet ; Eating ; Electronic Mail ; Food Preferences ; Humans ; Hygiene ; Iron ; Korea ; Lunch* ; Meals ; Meat ; Nutritionists ; Surveys and Questionnaires ; Recommended Dietary Allowances ; Vegetables ; Vitamin A

The Korea School Lunch Program mandates that school meals should safeguard the health and well-being of our children. School meals provide a nutritious diet that contains at least 1/3 of the daily Recommended Dietary Allowances of necessary nutrients at reasonable prices. This study was performed to assess the nutritional management of primary school meals, and to provide basic data for improvement of school meal nutritional guidelines. Three hundred and thirty six dietitians who worked at primary schools were recruited using a stratified sampling method. A survey was done by e-mail with a set of questionnaires about nutritional meal management. During school lunch planning, dietitians referred nutrition standards with priority, followed by students' food preferences and food hygiene. They considered energy as a most important nutrient during primary school lunch planning, followed by protein and calcium. Protein is usually over-served, whereas iron, vitamin A and calcium are usually under-served during primary school meal planning. For first and second grade primary students, grains, meat and vegetable side dishes seemed to be large compared to their eating capacity. Over 92% of school dietitians agreed the needs of food group standards for primary school lunch program. For making a checklist of the school lunch program, energy, protein and calcium were highly recommended, and meat.fish.egg group, vegetable.fruit group and dairy group were also highly recommended by school dietitians. Cooking method was also highly recommended. School dietitians proposed that remodeling of school kitchens and new cooking machine were the most important factors for improving school lunch system. These results suggest that food standards should be established for health-oriented nutritional management of primary school lunch programs. Nutritional checklists could include nutrient-rich foods and food groups, and items about cooking methods.
Calcium ; Edible Grain ; Checklist ; Child ; Cooking ; Diet ; Eating ; Electronic Mail ; Food Preferences ; Humans ; Hygiene ; Iron ; Korea ; Lunch* ; Meals ; Meat ; Nutritionists ; Surveys and Questionnaires ; Recommended Dietary Allowances ; Vegetables ; Vitamin A

BACKGROUND: Pregnancy affects the course of Graves' Disease (GD), and patients who initially maintain euthyroid function into their middle trimester with minimum doses of antithyroid drugs become exacerbated after delivery. Even patients who are completely cured, requiring no treatment during pregnancy, can relapse after delivery. In this study, we examined the postpartum changes in the thyroid functions of patients with GD, and attempted to determine the factors contributing to these changes. METHODS: The study subjects were recruited from pregnant women visiting our outpatient clinic for routine prenatal evaluations. 45 women previously diagnosed with GD, who had been treated and cured with hyperthyroidism, and were no longer taking any thyroid medications, were evaluated for 1 year post delivery. RESULTS: Among 45 patients, 20 (44.4%) developed thyroid disorders following delivery. Postpartum thyroiditis (PPT) developed in 8 patients (17.8%), and GD developed in 12 (26.0%). The onset of the PPT disease 3.1 +/- 1.4 months following delivery, which was significantly earlier than the 6.7 +/- 2.7 months required for the post delivery onset of GD (p=0.003). The TBII values, measured during the thyrotoxic state in each womaen, were negative in women with PPT and positive in 71.4% of women with GD (p=0.030). The duration of treatment for hyperthyroidism prior or pregnancy, the number of recurrences, and the time interval without treatment, were not associated with the development of postpartum thyroid disorders. Whereas, the mean number of past pregnancies for women who developed PPT was 3.9 +/- 2.1, and was significantly higher than the 2.2+/- 1.7 for women developing no thyroid dysfunctions (p=0.044). In 13 women their initial onset of GD occurred within one year postpartum, 7 (53.8%) having had a recurrence, which was significantly higher than in women whose disease onset occurred unrelated to delivery (5 of 32 women: 15.6%). CONCLUSION: Women with GD developed postpartum thyroid dysfunctions in 44.4% of cases. Women whose initial disease onset occurred within one year postpartum had higher recurrences of GD, and women who developed PPT had a history of higher gravidity compared to the euthyroid women postpartum. Therefore, if women with GD develop postpartum thyroid dysfunctions, the diagnosis should be made, and a treatment modality planned, following careful considerations of the patients' past obstetric history, changes in clinical manifestations and the TBII values.
Ambulatory Care Facilities ; Antithyroid Agents ; Diagnosis ; Female ; Graves Disease ; Gravidity ; Humans ; Hyperthyroidism ; Postpartum Period* ; Postpartum Thyroiditis ; Pregnancy ; Pregnant Women ; Recurrence* ; Thyroid Gland