Purpose: Neurofibromatosis 1 (NF1) is one of the most common autosomal dominant diseases caused by heterozygous mutation in the NF1 gene. Mutation detection is complex owing to the large size of the NF1 gene, the presence of a high number of partial pseudogenes, and the great variety of mutations. We aimed to study the mutation spectrum of NF1 gene in Korean patients with NF1. Materials and Methods: We have analyzed total 69 unrelated patients who were clinically diagnosed with NF1. PCR and sequencing of the NF1 gene was performed in all unrelated index patients. Additionally, multiplex ligation-dependent probe amplification (MLPA) test of the NF1 and SPRED1 gene analysis (sequencing and MLPA test) were performed in patients with negative results from NF1 gene sequencing analysis. Results: Fifty-five different variants were identified in 60 individuals, including six novel variants. The mutations included 36 single base substitutions (15 missense and 21 nonsense), eight splicing mutations, 13 small insertion or deletions, and three gross deletions. Most pathogenic variants were unique. The mutations were evenly distributed across exon one through 58 of NF1, and no mutational hot spots were found. When fulfilling the National Institutes of Health criterion for the clinical diagnosis of NF1, the detection rate was 84.1%. Cafe-au-lait macules were observed in all patients with NF1 mutations. There is no clear relationship between specific mutations and clinical features. Conclusion This study revealed a wide spectrum and genetic basis of patients with NF1 in Korea. Our results aim to contribute genetic management and counseling.

The purpose of this study was to compare the nutritional status of children aged 5 or under and women aged 20 to 34 years between the Republic of Korea (South Korea) and the Democratic Peoples' Republic of Korea (DPRK: North Korea). For the source of nutritional status of North Koreans, the DPRK 2004 Nutrition Assessment-Report of Survey Results was used. As the comparable data of South Koreans, the anthropometric data for children and women were obtained from the reports of the Korean Pediatric Society and the Korean Agency for Technology and Standards, respectively. The blood hemoglobin data of South Korean women were obtained from the data file of the 2001 National Health and Nutrition Survey and analyzed. In regard to the North Korea, the prevalence of underweight (weight for age Z-score <-2.0) in children under 12 months was about 10~15%, and thereafter progressively increased until 30 to 35 months reaching 30%. In South Korea, the prevalence of underweight was less than 3% in most age groups both in boys and girls. In North Korea, the prevalence of stunting (height for age Z-score <-2.0) reached 20% in children under 12 months and increased with age over the level of 50% in children aged 54 to 59 months. In South Korea, the prevalence of stunting was less than 3% in children under 12 months and was less than 10% throughout the age groups. Maternal protein-energy malnutrition and anemia were assessed for the women aged 20 to 34 years using mid-upper arm circumference (< 22.5 cm) and blood hemoglobin level (< 12 g/DL), respectively. The prevalence of protein-energy malnutrition was 39.6%, 30.7%, 31.7% in North Korea and 12.5%, 5.0%, 1.5% in South Korea for the women in 20~24, 25~29, 30~34 years, respectively. The prevalence of anemia in the North Korean women was about 34~36% while that in the South Korean women was 15~18%. In conclusion, the disparity of nutritional status in early childhood and maternity between South Korea and North Korea is so huge that active and well-planned nutrition support policy and programs for women and children in North Korea is imperative to prepare for the future unified nation.
Anemia ; Arm ; Information Storage and Retrieval ; Child ; Democratic People's Republic of Korea* ; Female ; Humans ; Korea* ; Nutrition Surveys ; Nutritional Status ; Prevalence ; Protein-Energy Malnutrition ; Republic of Korea ; Thinness

OBJECTIVE: To investigate roles of dynamic contrast enhanced magnetic resonance (DCE MR) and diffusion-weighted (DW) imaging in preoperative prediction of underestimation of ductal carcinoma in situ (DCIS)> or =2cm on US guided core needle biopsy. MATERIALS AND METHODS: Twenty two patients with DCIS on US-guided 14 gauge core needle biopsy were included. Patients were divided into a group with and without DCIS underestimation based on histopathology. MR images including DCE and DW imaging were obtained with a 3.0-T MR. The lesion type (mass or non-mass), enhancement pattern, peak enhancement, and apparent diffusion coefficient (ADC) values of proven malignant masses were generated using software of CADstream and compared between two groups using Fisher's exact test and Mann Whitney test. RESULTS: Eight patients were in the group with underestimation and 14 patients were in the group without underestimation. The lesion type and enhancement pattern were not different between two groups (P values = 1.000 and 0.613, respectively). The median peak enhancement of lesions with underestimation was 159.5%, higher than 133.5% of those without underestimation, but not significant (P value = 0.413). The median ADC value of lesions with underestimation was 1.26x10(-3) mm2/sec, substantially lower than 1.35x10(-3) mm2/sec of those without underestimation (P value = 0.094). CONCLUSION: ADC values had the potential to preoperatively predict DCIS underestimation on US-guided core needle biopsy, although a large prospective series study should be conducted to confirm these results.
Biopsy, Large-Core Needle ; Breast ; Carcinoma, Ductal ; Carcinoma, Intraductal, Noninfiltrating ; Diffusion ; Humans ; Magnetic Resonance Spectroscopy ; Needles

OBJECTIVE: To identify the effects of overactive bladder (OAB) symptoms on the health-related quality of life (HRQOL) in stroke patients since OAB symptoms are common in such patients, but their effects on stroke rehabilitation over time are unclear. METHODS: This study included 30 post-acute stroke patients who had been admitted for rehabilitation treatments. All participants completed a questionnaire evaluating urinary symptoms, including the Overactive Bladder Symptom Score (OABSS) and general HRQOL with a Short-Form 36 (SF-36) health survey. We assessed their performance in terms of the Function Ambulation Category, Modified Rankin Scale (MRS), Modified Barthel Index, and Mini-Mental State Examination (MMSE). All assessments were carried out twice at baseline and at 3 months. We divided patients into an OAB and non-OAB group with OABSS. A correlation analysis and multivariate regression were then performed. RESULTS: All performance scales showed an improvement over 3 months in the non-OAB group (n=18; p < 0.02), but, MRS and MMSE scores did not improve significantly in the OAB group (n=12) (p=0.15 and p=0.20, respectively). In the OAB group, the vitality and mental health scores significantly decreased over 3 months (p=0.011 and p=0,041, respectively), and the mental component summary (MCS) score showed a marginal decrease over 3 months (p=0.05). A multivariate regression analysis revealed that OAB symptoms were negatively correlated with the 3 months MCS score (B=−8.15, p=0.034). CONCLUSION: These results indicated that OAB symptoms could have negative effects on HRQOL and performance in patients suffering from a stroke.
Health Surveys ; Humans ; Mental Health ; Quality of Life* ; Rehabilitation ; Stroke* ; Urinary Bladder, Overactive* ; Walking ; Weights and Measures

OBJECTIVE: To identify the effects of overactive bladder (OAB) symptoms on the health-related quality of life (HRQOL) in stroke patients since OAB symptoms are common in such patients, but their effects on stroke rehabilitation over time are unclear. METHODS: This study included 30 post-acute stroke patients who had been admitted for rehabilitation treatments. All participants completed a questionnaire evaluating urinary symptoms, including the Overactive Bladder Symptom Score (OABSS) and general HRQOL with a Short-Form 36 (SF-36) health survey. We assessed their performance in terms of the Function Ambulation Category, Modified Rankin Scale (MRS), Modified Barthel Index, and Mini-Mental State Examination (MMSE). All assessments were carried out twice at baseline and at 3 months. We divided patients into an OAB and non-OAB group with OABSS. A correlation analysis and multivariate regression were then performed. RESULTS: All performance scales showed an improvement over 3 months in the non-OAB group (n=18; p < 0.02), but, MRS and MMSE scores did not improve significantly in the OAB group (n=12) (p=0.15 and p=0.20, respectively). In the OAB group, the vitality and mental health scores significantly decreased over 3 months (p=0.011 and p=0,041, respectively), and the mental component summary (MCS) score showed a marginal decrease over 3 months (p=0.05). A multivariate regression analysis revealed that OAB symptoms were negatively correlated with the 3 months MCS score (B=−8.15, p=0.034). CONCLUSION: These results indicated that OAB symptoms could have negative effects on HRQOL and performance in patients suffering from a stroke.
Health Surveys ; Humans ; Mental Health ; Quality of Life* ; Rehabilitation ; Stroke* ; Urinary Bladder, Overactive* ; Walking ; Weights and Measures

OBJECTIVES: Childhood depressive disorder one of the most prevalent chronic health conditions affecting school aged children. The objective of this study was to examine the prevalence and epidemiological characteristics of childhood depressive disorder in Korea. METHODS: In this study, a survey was conducted of elementary school children in the Cheonan area from September 2009 to August 2010. A total of 12,084 children were included in the analyses. The primary measure of depression was the 27-item Kovacs' Children's Depression Inventory (CDI), the Korean Dupaul attention-deficit hyperactivity disorder Rating Scales (K-ARS), Autism Spectrum Screening Questionnaire (ASSQ) and Restless Legs Syndrome Questionnaire (RLSQ) were also administered. RESULTS: The prevalence rate of childhood depressive disorder was 3.07%. The mean age was 9.21+/-1.81 years for the control group (5,969 male, 6,054 female) and 9.91+/-1.83 years for the depression group (CDI score> or =22 ; 159 male, 210 female). Age, height, weight, and economic status were similar for the two groups. However, there were statistically significant differences in the distribution of sex. The distribution of school grade also differed between the two groups. Scores for CDI, K-ARS, and ASSQ in the depressive group were higher than those of the control group. CONCLUSIONS: This is the first large-scale population-based study to report on the prevalence of childhood depressive disorder in South Korea. Increased rates of childhood depressive disorder, as reported by primary caretakers, might reflect the increasing negative impact of environmental risk factors on neurobehavioral health. Longitudinal study of the prevalence of childhood depressive disorder should be considered for further evaluation.
Aged ; Autistic Disorder ; Child ; Depression ; Depressive Disorder ; Humans ; Male ; Mass Screening ; Prevalence ; Republic of Korea ; Restless Legs Syndrome ; Risk Factors ; Self Report ; Weights and Measures ; Surveys and Questionnaires

Leucine-rich G protein-coupled receptor-5 (LGR5) is known to be a stem cell marker in many organs. LGR5 may have important roles in proliferative diabetic retinopathy (PDR) because LGR5 potentiate the Wnt/β-catenin pathway, which plays crucial roles in pathologic neovascularization in the retina. The association between LGR5 and retinal pathologic neovascularization has not yet been reported. In the present study, LGR5 was compared in human aqueous humor (AH) between normal control and patients with PDR to confirm the relationship between LGR5 and PDR. AH was collected from 7 naïve PDR patients and 3 control subjects before intravitreal injection and cataract surgery, respectively. LGR5 and key members of Wnt/β-catenin were assessed by western blotting. In the present study, it was confirmed for the first time that LGR5 is detected in AH and it increases in PDR patients. Key members of Wnt/β-catenin pathway were also increased in AH of PDR patients compared to control. These findings might support the hypothesis that LGR5 has important roles in PDR especially considering the roles of the Wnt/β-catenin pathway, which is activated by LGR5, contributing to retinal pathologic neovascularization.
Aqueous Humor* ; Blotting, Western ; Cataract ; Diabetic Retinopathy* ; Humans* ; Intravitreal Injections ; Neovascularization, Pathologic ; Retina ; Retinaldehyde ; Stem Cells ; Wnt Signaling Pathway

The Luminex-based single antigen bead (SAB) assay is widely used to detect HLA antibody in transplant recipients. However, one limitation of the SAB assay is the prozone effect, which occurs mostly as a result of complement interference. We investigated the efficacy of EDTA treatment for overcoming the prozone effect and predicting C1q binding of HLA antibody. We subjected 27 non-treated (naïve) and EDTA-treated serum samples from highly sensitized patients to IgG-SAB assays, and we confirmed the prozone effect in 53% and 31% of class I and class II antibody tests, respectively, after EDTA treatment. When we conducted additional assays after dithiothreitol treatment and serum dilution, EDTA was the most efficacious in eliminating the prozone effect. Reducing the prozone effect by EDTA treatment strengthened the correlation between IgG mean fluorescence intensity (MFI) and C1q MFI values (ρ=0.825) as compared with the naïve sera (ρ=0.068). Although C1q positivity was dependent on the concentration of HLA antibody in EDTA-treated sera, the correlations varied individually. Overall, our results confirmed the efficacy of EDTA treatment for overcoming the prozone effect. EDTA treatment showed a positive effect on the correlation between IgG MFI and C1q MFI values.
Complement System Proteins ; Dithiothreitol ; Edetic Acid ; Fluorescence ; Humans ; Immunoglobulin G ; Transplant Recipients

OBJECTIVE: The aim of the study was to develop the Korean Psychological Autopsy Checklist for Adolescent (K-PAC-A) and conduct a pilot study. METHODS: A number of steps were undertaken in the development of the K-PAC-A including literature reviews, consultations, and a pilot study. The Korean psychology autopsy checklist 2.0 (K-PAC 2.0) was carefully reviewed to adopt some domains and questions which can be applied to adolescents. RESULTS: In addition to the adoption of some domains and questions from the K-PAC 2.0, some items were developed by considering the risk factors shown in the previous studies and cultural factors including family-based and school-based problems. A pilot study was conducted in collaboration with Eulji hospital, and Suicide and School Mental Health Institute of Hallym University and 5 cases of adolescent suicide victims were recruited. A final version of the K-PAC-A consists of three domains; a bereaved family (informants), a decedent, and psychological assessments. CONCLUSION: An adolescent psychological autopsy study using the K-PAC-A is expected to provide useful evidence for suicide prevention policies and intervention plans for Korean youths in the future.
Adolescent* ; Autopsy* ; Checklist* ; Child ; Cooperative Behavior ; Humans ; Mental Health ; Pilot Projects ; Psychology ; Referral and Consultation ; Risk Factors ; Suicide

The objective of this study was to verify a change in the longitudinal trend of blood lead levels for the Korean population, before and after the regulation of leaded gasoline— which occurred between 1987 and 1993 in Korea. A total of 77 reports on blood lead levels among general Korean population between 1981 and 2014 were selected, and the results were summarized to have the variables of year, number of subjects, the subjects’ range in age, gender, and blood lead concentrations (arithmetic mean). The annual average atmospheric lead levels for four major cities (i.e., Seoul, Busan, Daegu and Gwangju) were collected from the Air Pollution Monitoring Database from 1991, and pilot studies from 1985 to 1990 before the national air quality monitoring system was launched in 1991. Blood lead levels were visualized in a bubble plot in which the size of each bubble represented the sample size of each study, and the annual average concentrations in ambient air were depicted on line graphs. Blood lead levels in the Korean population tended to gradually increase from the early 1980s (approximately 15-20 μg/dL) until 1990-1992 (20-25 μg/dL). Blood lead levels then began to rapidly decrease until 2014 ( < 2 μg/dL). Similar patterns were observed for both adults (≥20 years) and younger children/adolescents. The same longitudinal trend was observed in annual average atmospheric lead concentration, which suggests a significant correlation between air lead concentration and blood lead concentration in the general population. In conclusion, the regulation of leaded gasoline has significantly contributed to the rapid change in blood lead concentrations. And, the regulation of other sources of lead exposure should be considered to further decrease blood lead levels in the Korean population.
Adult ; Air Pollution ; Busan ; Daegu ; Gasoline ; Humans ; Korea ; Pilot Projects ; Sample Size ; Seoul