• Journal of Genetic Medicine
• /
• v.16 no.2
• /
• pp.67-70
• /
• 2019

Limb-girdle muscular dystrophy (LGMD) is a group of muscular dystrophies that has extremely heterogeneous clinical features and genetic background. The caveolin-3 gene (CAV3) is one of the causative genes. LGMD appears as a clinical continuum, from isolated skeletal muscle involvement to long QT syndrome. Here we report two patients without apparent muscle weakness in a family with CAV3 mutation. A 7-month-old Korean boy visited our muscle clinic because of an incidental finding of elevated serum creatine kinase (CK) concentration (680 IU/L, reference range, 20-270 IU/L) without clinical symptoms. The patient was born after an uneventful pregnancy and showed normal developmental milestones. He developed pseudohypertrophy of his calf muscle during the follow-up. We obtained a muscle biopsy at age 14 months, which showed size variations and degenerating/regenerating myofibers with endomysial fibrosis and immunohistochemical evidence of normal dystrophin. Under the impression of LGMD, we performed target panel sequencing and identified a heterozygous in-frame mutation of CAV3, c.307_312delGTGGTG (p.Val103_Val104del). Immunohistochemical staining of muscle indicated complete loss of caveolin-3 compared with normal control muscle, which supported the variant's pathogenicity. We performed segregation analysis and found that the patient's mother had the same variant with elevated serum CK level (972 IU/L). We report on autosomal dominant familial caveolinopathy caused by a pathogenic variant in CAV3, which was asymptomatic until the fourth decade. This case highlights the utility of next generation sequencing in the diagnosis of muscular dystrophies and the additive role of muscle biopsy to confirm the variants.

• Tuberculosis and Respiratory Diseases
• /
• v.53 no.2
• /
• pp.127-135
• /
• 2002

Background : Idiopathic interstitial pneumonia is characterized by chronic inflammation and pulmonary fibrosis. The clara cell 10 kD protein (CC10, also designated CC16) is synthesized by the bronchial epithelium and has been suggested to have a potent anti-inflammatory effect. Therefore, CC-10 might be a candidate for controlling the inflammatory events in patients with idiopathic interstitial pneumonia. The aim of this study was to determine if the degrees of pulmonary fibrosis in idiopathic interstitial pneumonia is associated with CC-10 in the BAL fluid. Materials and Methods : The BAL fluid was collected from 29 patients and 10 controls. Densitometric analysis of the western blot assay for the CC-10 was subsequently performed. The RI (relative intensity) of each band was compared according to the diagnosis, the radiological degrees of pulmonary fibrosis and the relative proportion of inflammatory cells in the BAL fluid. Results : There were no differences in the CC-10 expression levels in the BAL fluid between the patients (RI $77.5{\pm}75.8%$) and the controls ($70.7{\pm}39.8%$) (p>0.05). In addition, the degrees of pulmonary fibrosis and airway inflammation in patients with usual interstitial pneumonia were not associated with CC-10 expression in the BAL fluid (p>0.05). Conclusion : This study suggests that CC-10 expression is not associated with the degrees of pulmonary fibrosis in patients with usual interstitial pneumonia.

• Journal of Environmental Health Sciences
• /
• v.44 no.5
• /
• pp.433-443
• /
• 2018

Objectives: The purpose of this study was to examine the relationship between dietary habits and concentrations of urinary phthalate metabolite in elementary school children. Methods: This study was conducted in Seoul, South Korea. We collected urine samples from 156 children from a single school in September 2016. Information on dietary habits was obtained from the parents of the children. Five types of urinary phthalate metabolites were analyzed using a high-performance liquid chromatography tandem mass spectrometer. Multiple linear regression analysis was used to determine the factors affecting the concentrations of urinary phthalate metabolite. Results: Girls had a significantly lower concentration of urinary mono-n-butyl phthalate (MnBP) (p=0.006) than did boys. When the consumption of bean processed food and wrapped delivery food were more than once a week, urinary MnBP (p=0.021) and monobenzyl phthalate (MBzP) (p=0.032) concentrations were the highest, respectively. Conclusion: Several urinary phthalate metabolite concentrations were associated with demographic and dietary habits. Particularly, urinary MnBP and MBzP were associated with several processed foods. The findings of this study might be useful as basic data for establishing and educating on environmental health policy.

• The Korean Journal of Physiology and Pharmacology
• /
• v.16 no.5
• /
• pp.293-296
• /
• 2012

Memory reconsolidation is ubiquitous across species and various memory tasks. It is a dynamic process in which memory is modified and/or updated. In experimental conditions, memory reconsolidation is usually characterized by the fact that the consolidated memory is disrupted by a combination of memory reactivation and inhibition of protein synthesis. However, under some experimental conditions, the reactivated memory is not disrupted by inhibition of protein synthesis. This so called "boundary condition" of reconsolidation may be related to memory strength. In Pavlovian fear conditioning, the intensity of unconditional stimulus (US) determines the strength of the fear memory. In this study, we examined the effect of the intensity of US on the reconsolidation of contextual fear memory. Strong contextual fear memory, which is conditioned with strong US, is not disrupted by inhibition of protein synthesis after its reactivation; however, a weak fear memory is often disrupted. This suggests that a US of strong intensity can inhibit reconsolidation of contextual fear memory.

• Nutrition Research and Practice
• /
• v.11 no.3
• /
• pp.232-239
• /
• 2017

BACKGROUND/OBJECTIVES: Increased consumption of instant noodles has recently been reported to be positively associated with obesity and cardiometabolic syndrome in South Korea, which has the highest per capita instant noodle consumption worldwide. This study aimed to investigate the association between instant noodle consumption and cardiometabolic risk factors among college students in Seoul. SUBJECTS/METHODS: The study subjects consisted of 3,397 college students (1,782 male; 1,615 female) aged 18-29 years who participated in a health checkup. Information on instant noodle consumption was obtained from the participants' answers to a question about their average frequency of instant noodle intake over the 1 year period prior to the survey. RESULTS: Statistical analysis using a general linear model that adjusted for age, body mass index, gender, family income, health-related behaviors, and other dietary factors important for cardiometabolic risk, showed a positive association between the frequency of instant noodle consumption and plasma triglyceride levels, diastolic blood pressure, and fasting blood glucose levels in all subjects. Compared to the group with the lowest frequency of instant noodle intake (${\leq}1/month$), the odds ratio for hypertriglyceridemia in the group with an intake of ${\geq}3/week$ was 2.639 [95% confidence interval (CI), 1.393-5.000] for all subjects, while it was 2.149 (95% CI, 1.045-4.419) and 5.992 (95% CI, 1.859-21.824) for male and female students, respectively. In female students, diastolic blood pressure was also higher among more frequent consumers of instant noodles. CONCLUSIONS: Our results suggest that frequent consumption of instant noodles may be associated with increased cardiometabolic risk factors among apparently healthy college students aged 18-29 years.

• Maxillofacial Plastic and Reconstructive Surgery
• /
• v.32 no.6
• /
• pp.537-543
• /
• 2010

Purpose: The objective of this study is to evaluate the survival rate and influencing factors. Patients and Methods: We studied 104 patients who were diagnosed for squamous cell carcinoma of tongue and received curative treatment in oral oncology clinic of National Cancer Center from June 2001 to December 2009. Results: We found the following results. 1. The overall 5-year survival rate of tongue cancer was 67.0% and there was no significant statistical difference between male and female. 2. A lower survival rate was shown in patients under 40 years (42.2%) than over 40 years (75.5%)(P < 0.05). 3. 5-year survival rates of patients with tongue cancer classified by pTNM classification were 87.4% in early stage and 43.3% (P < 0.05). 4. A higher survival rate was seen in patients without cervical lymph node metastasis (82.0% > 44.1%)(P < 0.05). 5. A higher survival rate was seen in patients of tongue cancer with higher differenciation grade (P < 0.05). 6. It is well known that drinking and smoking have great influence on the survival rate of patients of squamous cell carcinoma of tongue. But these was no statistical significance. Conclusion: The overall 5-year survival rate of tongue cancer was 67.0% and it was mostly influenced by factors like age, pTNM stage, cervical lymph node metastasis, differentiation of cancer cell etc.

• Environmental Analysis Health and Toxicology
• /
• v.29
• /
• pp.17.1-17.6
• /
• 2014

Objectives Antimicrobial chemicals are used in a variety of household and personal care products. Exposure to antimicrobial household products has been hypothesized to lead to allergic diseases in children. Methods We investigated antimicrobial household product exposure and allergic symptoms in Korean children. An antimicrobial exposure (AE) score was derived. To examine the symptoms of allergic diseases (current wheeze, current rhinitis, and current eczema) in the past 12 months, we used a questionnaire based on the core module of the International Study of Asthma and Allergies in Children. Complete data for the analysis were available for 25,805 of the 35,590 (72.5%) children. Results The prevalence of current allergic diseases was as follows: wheeze, 5.6%; allergic rhinitis, 32.6%; and eczema, 17.7%. The mean (standard deviation) AE score was 14.3 (9.3) (range: 0-40). Compared with subjects with a low AE score (reference), subjects with a high AE score (fourth quartile) were more likely to have symptoms of wheezing and allergic rhinitis (adjusted odds ratio [aOR] for wheezing 1.24, 95% confidence interval [CI], 1.05-1.45, p for trend=0.24; aOR for allergic rhinitis 1.30, 95% CI, 1.20-1.40, p <0.01). Conclusions These findings suggest that frequent use of antimicrobial household products was associated with current wheeze and current allergic rhinitis.

• Journal of the Korean Electrochemical Society
• /
• v.10 no.2
• /
• pp.126-131
• /
• 2007

The durability problem of Prussian blue in non-aqueous $Li_+$-based electrolytes has been due to the degradation of the Prussian blue electrode matrix during the insertion/extraction processes by $Li_+$. In this work, we designed and synthesised the Prussian blue without reducing the electrochromic performance in non-aqueous $Li_+$-based electrolytes. Prussian blue was electrodeposited on a glass which has ITO coating, and the coating solution is a mixture solution of $FeCl_3\;and\;K_3Fe(CN)_6$ with deionized water added HCl, KCl, and LiCl, respectively. The durability of Prussian blue was evaluated by an in-situ transmittance measurement during a continuous and pulse potential cycling test, and measured by electroactive layer thickness due to evaluating the degradation.

• Journal of Chest Surgery
• /
• v.39 no.2 s.259
• /
• pp.99-105
• /
• 2006

Background: Interrupted aortic arch is a rare congenital heart anomaly which still shows high surgical mortality. In this study, we investigated the causes of and the risk factors for mortality to improve the surgical outcomes for this difficult disease entity. Material and Method: From 1984 to 2004, 42 patients diagnosed as IAA were reviewed retrospectively. Age, body weight at operation, preoperative diagnosis, preoperative PGE1 requirement, type of interrupted aortic arch, degree of left ventricular outflow stenosis, CPB time, and ACC time were the possible risk factors for mortality. Result: There were .14 hospital deaths. Preoperative use of PGE1, need for circulartory assist and aortic cross clamp time proved to be positive risk factors for mortality on univariate analysis. Preoperative left ventricular outflow stenosis was considered a risk factor for mortality but it did not show statistical significance (p-value=0.61). Causes of death included hypoxia due to pulmonary banding, left ventricular outtract stenosis, infection, mitral valve regurgitation, long cardiopulmonary bypass time and failure of coronary transfer failure in TGA patients. Conclusion: In this study, we demonstrated that surgical mortality is still high due to the risk factors including preoperative status and long operative time. However preoperative subaortic dimension was not related statistically to operative death statistically. Adequate preoperative management and short operation time are mandatory for better survival outcome.

• Journal of Preventive Medicine and Public Health
• /
• v.37 no.4
• /
• pp.381-389
• /
• 2004

Objective : To compare the efficacy between SKI306X and Diclofenac by using generalized estimating equations (GEE) methodology in the analysis of correlated bivariate binary outcome data in Osteoarthritis (OA) diseases. Methods : A randomized, double-blind, active comparator-controlled, non-inferiority clinical trial was conducted at 5 institutions in Korea with the random assignment of 248 patients aged 35 to 75 years old with OA of the knee and clinical evidence of OA. Patients were enrolled in this study if they had at least moderate pain in the affected knee joint and a score larger than 35mm as assessed by VAS (Visual Analog Scale). The main exposure variable was treatment (SKI 306X vs. Diclofenac) and other covariates were age, sex, BMI, baseline VAS, center, operation history (Yes/No), NSAIDS (Y/N), acupuncture (Y/N), herbal medicine (Y/N), past history of musculoskeletal disease (Y/N), and previous therapy related with OA (Y/N). The main study outcome was the change of VAS pain scores from baseline to the 2nd and 4th weeks after treatment. Pain scores were obtained as baseline, 2nd and 4th weeks after treatment. We applied GEE approach with empirical covariance matrix and independent(or exchangeable) working correlation matrix to evaluate the relation of several risk factors to the change of VAS pain scores with correlated binary bivariate outcomes. Results : While baseline VAS, age, and acupuncture variables had protective effects for reducing the OA pain, its treatment (Joins/Diclofenac) was not statistically significant through GEE methodology (ITT:aOR=1.37, 95% CI=(0.8200, 2.26), PP:aOR=1.47, 95% CI=(0.73, 2.95)). The goodness-of-fit statistic for GEE (6.55, p=0.68) was computed to assess the adequacy of the fitted final model. Conclusions : Both ANCOVA and GEE methods yielded non statistical significance in the evaluation of non-inferiority of the efficacy between SKI306X and Diclofenac. While VAS outcome for each visit was applied in GEE, only VAS outcome for the fourth visit was applied in ANCOVA. So the GEE methodology is more accurate for the analysis of correlated outcomes.