Alexander disease (AxD) is a progressive neurodegenerative disorder caused by mutations in the gene encoding the glial fibrillary acidic protein (GFAP). Three subtypes of AxD have been identified based on the age of onset: infantile (under age 2), juvenile (age 2 to 12) and adult (over age 12). The adult form is rare and presents with unique clinical features different from those of the infantile forms. Here, we present the first Korean case of adult-onset cerebellar ataxia with typical tadpole-like brainstem atrophy on the magnetic resonance imaging (MRI). Molecular genetic analysis revealed a heterozygous missense mutation (c.1246C>T, p.R416W) in the GFAP gene.

No abstract available.
Transplants*

No abstract available.
Transplants*

OBJECTIVES: This study aimed to assess the improvement of teachers' sanitation performance and food distribution environment at Centers for children's food service management after a sanitation education program. METHODS: The subjects were 119 teachers working at child care centers registered in the Daejeon Center for Children's Foodservice Management in Dongu and Jung-gu, Daejeon. The sanitation education was provided three times from March to August in 2014, and the survey questionnaires were distributed before and after the education. The sanitation status of food service environment of the centers was examined by ATP(adenosine-5'- triphosphate) bioluminescence. RESULTS: After the sanitation education, the teachers showed higher levels of sanitation knowledge. Also, sanitation performance and recognition level of the importance of it significantly improved after the education program. The mean variation scores of importance and performance after the education were 0.14 and 0.23. According to the Importance-Performance Analysis (IPA) results of 26 sanitation attributes about the food service environment, the selection attributes with relatively low performance and importance were mostly distributed in the children's and distributer's personal hygiene management area. However, all attributes except using a personal water bottle and cup were moved to high performance and importance level. Also, the ATP examination results showed that the sanitation status of the food service environment was improved after the education program. CONCLUSIONS: The sanitation education program was effective in improving the recognition of the importance of sanitation and its performance with regard to food service management.
Adenosine Triphosphate ; Child ; Child Care ; Education* ; Food Services* ; Humans ; Hygiene ; Sanitation* ; Water

PURPOSE: To evaluate the effect of adding exogenous extracellular matrix (ECM) proteins on the reattachment of retinal pigment epithelium (RPE) to the damaged surface of Bruch's membrane (BM). METHODS: Porcine BM explants were divided into six groups: BMs with an intact basal lamina (bl-BM) and five damaged BMs (d-BM: bare & four ECM-coated). The d-BM was coated with ECM proteins (either fibronectin, laminin, collagen IV, or all). Primary RPE sheets were plated and cultured for each group of BM explants. The attached live cells were counted and examined with a scanning electron microscope after three days, as well as at 1, 2 and 4 weeks. RESULTS: The RPE reattachment rate was highest in bl-BM and lowest in uncoated d-BM. ECM-coated groups showed a lower reattachment rate than bl-BM, but when compared with the uncoated group, the reattachment rate was significantly increased (p<0.05). ECM-exposure time did not influence the reattachment rate of any of the groups. RPE cells plated on bl-BMs and ECM-coated d-BMs attached and proliferated well and achieved confluence over time. Even though most cells were flat and large in shape, some cells revealed a good morphology with microvilli on their surface. On the other hand, only some of the RPE sheets plated on the uncoated d-BM attached loosely and most cells remained round and clumped. CONCLUSIONS: These results show that the addition of ECM proteins may increase the ability of RPE cells to reattach to the damaged BM surface, which would likely create a good morphology.
Basement Membrane ; Bruch Membrane ; Collagen ; Epithelial Cells* ; Extracellular Matrix Proteins* ; Extracellular Matrix* ; Fibronectins ; Hand ; Laminin ; Microvilli ; Retinal Pigment Epithelium ; Retinaldehyde*

OBJECTIVES: This study evaluated the quality of life (QoL) of North Korean defectors in South Korean society in the year 2007 for purposes of comparing it to their QoL in 2004 and identifying demographic variables that influence QoL. METHODS: We used the Korean version of WHOQoL-BREF to evaluate the QoL of 106 North Korean defectors. Other instruments included a questionnaire for discerning demographic data, life experiences, and physical health. RESULTS: For last 3 years, more defectors had higher education, married, and higher income. However, their unemployment numbers did not decrease, while their number of believers in a religion did decrease. QoL scores remained low in the areas of negative feelings, financial resources, dependence on treatment and drugs, recreation and leisure activities, and opportunities for new information and skills, but were high in areas of cognitive mental functions, personal beliefs, work capacity, self-esteem, and transportation. Path analysis suggested that the psychological domain influenced overall QoL while other domains influenced overall QoL indirectly, through the psychological domain. Since 2004, defectors' QoL in the physical domain and in opportunities for education and transportation had improved, while QoL with regard to pain and discomfort, mobility, and negative feelings had worsened. Variables that were negatively correlated with QoL included male sex, higher age, being married, experiencing army service in North Korea, and shorter stays in third countries. In South Korea, QoL was negatively correlated with current physical illness but positively correlated to having a family, a stable job, higher income, and someone to talk with. CONCLUSION: These results suggest that defectors' QoL would be improved by tailored services according to their sex and age, focusing on educational programs to provide new information and skills, support for building families, health services, and community support.
Democratic People's Republic of Korea ; Follow-Up Studies ; Health Services ; Humans ; Leisure Activities ; Life Change Events ; Male ; Mental Health ; Quality of Life ; Surveys and Questionnaires ; Recreation ; Republic of Korea ; Transportation ; Unemployment

BACKGROUND: This study was undertaken to test the validity of M-mode and a new cross sectional cehocardiographic quantification of pericardial effusion. METHODS: This study was performed in 12 patients with large pericardial effusion of whom hed M-mode and 2-D echocardiography just before therpeutic drainage of the effusion. The volume of Pericardial fluid removed by pericardiocentesis was compared with te echo-free space estimated by M-mode echocardiography and the volume estimated by new 2-D echocardiographic method. The pericardial sac volume and the cardiac volume were calculated by applying the formula for the volume of a prolate ellipse. RESULTS: 1) There was a good correlation between 2-D echocardiographic estimate and the actual volume removed by pericardiocentesis(r=0.72, p<0.05). 2) The correlation between the echo-free space estimated by M-mode echocardiography at the level of mitral valve and the actual volume was also good(r=0.81,p<0.001). CONCLUSION: The M-mode and 2-D echocardiographic method is successful in helping to estimate large pericardial effusion.
Cardiac Volume ; Drainage ; Echocardiography* ; Humans ; Mitral Valve ; Pericardial Effusion* ; Pericardiocentesis ; Phosmet

PURPOSE: To evaluate the functional outcomes of the severely comminuted intra-articular calcaneal fractures that were selectively treated with primary subtalar arthrodesis. MATERIALS AND METHODS: This study is based on the 9 patients, 10 feet of intra-articular severely comminuted calcaneal fractures that were treated with open reduction and internal fixation with primary subtalar arthrodesis due to inability to reconstruct the subtalar articular surface with follow-up of more than 1 year. Postoperative clinical evaluation was performed with AOFAS Hindfoot functional scores. The patient satisfaction, returning to previous occupation and complications were also investigated. RESULTS: Follow-up period was average 20.3 months. Overall AOFAS functional score at final follow-up was average 71.8 points and VAS pain score was 3.9. Fifty percent of the patients were satisfied with the surgery and 80% of the patients were able to return to their previous occupations at average 8.4 months after trauma. Post-operative complications were 2 cases of sural nerve injuries and 1 hindfoot valgus malunion. CONCLUSION: We concluded that the primary subtalar arthrodesis is a viable surgical option for severely comminuted calcaneal fractures with favorable functional result and early returning of most patients to their previous occupations.
Arthrodesis* ; Calcaneus ; Follow-Up Studies ; Foot ; Fractures, Comminuted* ; Humans ; Occupations ; Patient Satisfaction ; Sural Nerve

BACKGROUND: Increasing numbers of young people go to clubs. In Korea, however, no studies have been conducted regarding the exposure of club patrons to secondhand smoke. The present study was conducted to evaluate the degree of club customers' exposure to secondhand smoke. METHODS: The study subjects included 10 male and 12 female non-smokers. The investigational site was a club located in Daegu. Urine samples were collected before exposure to secondhand smoke in the club and 6 hours after a 3-hour exposure. The urine cotinine levels were measured via the LC-MS/MS method. A survey was conducted to collect data regarding the subjects' smoking experiences and the degree of exposure to secondhand smoke in their daily lives. RESULTS: The average urine cotinine level increased from 1.09 microg/L to 5.55 microg/L (p<0.05). No significant difference existed in the change in urine cotinine level between the male and female subjects. In addition, there was no significant difference in the change in urine cotinine level by the degree of exposure to secondhand smoke in daily life. CONCLUSIONS: The average urine cotinine level in all the subjects significantly increased after exposure to secondhand smoke. This is the first study on exposure to secondhand smoke in clubs; these results can be used to craft measures that reduce exposure to secondhand smoke in public places, such as clubs.
Cotinine ; Female ; Humans ; Korea ; Male ; Smoke ; Smoking ; Tobacco Smoke Pollution

The safety and efficacy of Poly-L-lactic acid (PLLA) as an injectable facial volumizer for the treatment of lipoatrophy and facial rejuvenation has been widely proven. We experienced a remarkable case of deep-seated nodules on both the cheeks of 57-year-old female 18-months after administration of PLLA filler injection for cosmetic purpose and performed a skin biopsy. With hematoxylin and eosin stain, the nodule showed non-caseating granulomas consisting of histiocytes with central foreign bodies in the dermis. This case report represents the late-onset foreign body reaction due to PLLA facial injections.