OBJECTIVE : To analyze the methylenetetrahydrofolate reductase (MTHFR) mutation in recurrent spontaneous abortion associated with hyperhomocysteinemia. MATERIAL AND METHOD: The blood Sample of habitual aborter with high fasting homocysteine level was tested by PCR-RFLP method. RESULTS: The patient was found to be a homozygosity for MTHFR gene mutation that was confirmed by the finding which is consistent with the mutation at the nucleotide 677 C to T, Corresponding to Ala to Val. CONCLUSIONS: Hyperhomocysteinemia due to MTHFR mutation is a cause of recurrent spontaneous abortion. Therefore, the MTHFR mutation should be examined in the workup of recurrent spontaneous abortion showing hyperhomocysteinemia.
Abortion, Spontaneous* ; Fasting ; Female ; Homocysteine ; Humans ; Hyperhomocysteinemia* ; Methylenetetrahydrofolate Reductase (NADPH2)* ; Pregnancy

A set of exposure factors that reflects the characteristics of individual behavior capable of influencing exposure is essential for risk and exposure assessment. In 2007, the Korean Exposure Factors Handbook was, therefore, issued, driven by the need to develop reliable exposure factors representing the Korean population. The purpose of this study was to overview the development process of the Korean Exposure Factors Handbook and major recommended exposure values for the Korean population to allow information exchanges and comparison of recommended values among nations. The researchers reviewed the domestic data that could be used in the development of exposure factors, confirmed a knowledge gap, and set a priority of development by phases. A methodology to measure exposure factors was established to develop measuring techniques and test their validity. Data were processed or a survey was conducted according to the availability of data. The study thus produced recommended values for 24 exposure factors grouped by general exposure factors, food ingestion factors, and activity factors by setting up a database of exposure factors and carrying out statistical analysis. The study has significantly contributed to reducing the potential uncertainty of the risk and exposure assessment derived by the application of foreign data or research findings lacking representativeness or grounds by developing a set of exposure factors reflecting the characteristics of the Korean people. It will be necessary to conduct revisions in light of the changing statistical values of national data and the exposure factors based on Korean characteristics.
Asian Continental Ancestry Group ; *Environmental Exposure ; Humans ; Internet ; *Program Development ; Republic of Korea ; Risk Assessment ; User-Computer Interface

No abstract available.
Mortality*

We report a case of epidermolysis bullosa simplex, Dowling-Meara type (EBS-DM), which was associated with congenital pyloric atresia (PA) and various urologic abnormalities, a diagnosis confirmed by immunofluorescence mapping and electron microscopic findings. Immunofluorescent mapping showed the serum from a patient with bullous pemphigoid faintly binding to the floor of the blister, and monoclonal antibodies against type IV and VII collagens were also stained on the floor of the blister. Electron microscopy showed epidermolytic cleavage and prominent clumping of tonofilaments in the basal and suprabasal keratinocytes. An abdominal radiograph and barium swallow showed a complete obstruction at the pyloric channel level. The widespread bullae healed without any scar formation and the bullae formation was localized on the extremities after 3 months of age without any specific treatment. Multiple urologic abnormalities such as bilateral hydronephrosis, hydroureter and a distended bladder with trabeculation were observed at 12 months of age. Currently, with the patient at 4 years of age, bullae still appear on the hands and feet and nail shedding can be observed. The patient's father, a paternal uncle and a paternal aunt had had similar bullous eruptions in infancy, all of which had improved spontaneously by the age of one.
Case Report ; Collagen/metabolism ; Epidermolysis Bullosa Simplex/pathology ; Epidermolysis Bullosa Simplex/metabolism ; Epidermolysis Bullosa Simplex/complications* ; Human ; Infant, Newborn ; Male ; Pylorus*/radiography ; Stomach Diseases/radiography ; Stomach Diseases/complications* ; Urologic Diseases/congenital* ; Urologic Diseases/complications*

BACKGROUND: The diastolic transmitral flow velocity pattern has been commonly used to assess left ventricular(LV) diastolic function. The effects of multiple factors(such as, LV preload, afterload and heart rate, etc.) make difficulties in accurate interpretation. METHODS: In order to investigate the diastolic transmitral filling patterns according to the changes of the proload or heart rate, we studied 27 normal subjects with pulsed Doppler echocardiography after the administration of nitroglycerin(0.6mg/tab.) sublingually or atropine(0.5mg/amp.) intravenously. RESULTS: 1) After nitroglycerin administration, the folowings were obtained. ; The systolic blood pressure and LV diastolic filling time(DFT) decreased by 10.1% and 15.3%, respectively(p<0.001), compared with baseline data. The ratio of peak early to late diastolic transmitral flow velocities (E/A) and time-velocity integrals(TVIE/TVIA) decreased by 10.3% and 14.8%, respectively(p<0.01). The early diastolic filling time(Time E) was unchanged. Therefore, we suggest that time E is helpful, compared with the increments of the preload or the diastolic dysfunction. 2) After atropin administration, the heart rate, peak late diastolic transmitral flow velocity(PA) and percent atrial contribution(%AC) significantly increased by 43.6%, 25.1% and 41.4%, respectively(p<0.001). The E/A, TVIE/TVIA and DFT significantly decreased by 42.9%, 38.9% and 43.0%, respectively(p<0.001) compared to the data before drug administration. 3) The heart rate correlated negatively to the E/A, TVIE/TVIA and DFT. It was correlated positively to %AC(r=+0.63; p<0.001). The normalized E/A ratio by DFT(E/A/DFT) didn't correlate. Therefore, E/A/DFT is helpful on the exclusion of the influences of heart rate by the administration of the atropine. CONCLUSION: The decrement of preload or the increment of heart rate changes the diastolic transmitral flow velocity patterns. Therefore, when the diastolic function is assessed by interpretation of the Doppler transmitral flow velocity pattern with pulsed Doppler echocardiogram, the potential influences of preload and heart rate must be taken into account.
Atropine* ; Blood Pressure ; Echocardiography ; Echocardiography, Doppler* ; Echocardiography, Doppler, Pulsed ; Heart Rate ; Humans* ; Nitroglycerin* ; Time

MELAS syndrome is a rare but distinct clinical entity belonging to a group of mitochondrial encephalomyopathies characterized by the tetrad of mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes. We experienced a case of MELAS syndrome in an 8 year-old boy who showed headache, pain of the eyeball, vomiting, stroke-like episodes such as visual disturbance and dysarthria, myoclonic seizure, confusion, and walking disturbance. His serum lactate level was elevated up to 48 mg/dl. MRI findings showed high signal intensities T2-weighted image and low signal intensities in T1-weighted image in the right thalamus and parietooccipital lobe and bilateral symmetric high signal intensity in T1-dweighted image in the basal ganglia. We have seen the dispersed ragged-red fibers with modified Gomori trichrome staining on light microscope, and abundant and dysmorphic mitochondria on electon microscope in the specimen of muscle biopsy. esis of SLE.
Basal Ganglia ; Biopsy ; Child ; Dysarthria ; Headache ; Humans ; Lactic Acid ; Magnetic Resonance Imaging ; Male ; MELAS Syndrome* ; Mitochondria ; Mitochondrial Encephalomyopathies ; Seizures ; Thalamus ; Vomiting ; Walking

PURPOSE: The objective of this study was to define the predictors of health related quality of life(HRQoL) of women caregivers of the demented elderly patients. METHODS: The subjects of this study were 140 pairs of patients with dementia and their caregivers. The characteristics of dementia patients and caregivers, Barthel index and SF-36 were measured in this study. T-test, ANOVA, Pearson correlation coefficient, and stepwise multiple regression were used for data analysis. RESULTS: The health related quality of life(HRQoL) score of women caregivers was 288.35+/-66.10 for norm based scoring. HRQoL of women caregivers was correlated with patients' ADL, severity of dementia, caregivers' age, burden, and family support. The major factors that affected the physical components of women caregivers of patients with dementia was the age of the caregiver, burden, and ADL which explained 36.0% of HRQoL. The main predictors of women caregivers' emotional state was the caregiver's burden. CONCLUSION: Patients' support systems must be implemented to improve the physical HRQoL of caregivers. A caregivers' burden relief program needs to be prepared to increase their emotional HRQoL and further studies and efforts will be needed to evaluate those effects.
Activities of Daily Living ; Adult* ; Aged ; Caregivers* ; Dementia* ; Female ; Humans ; Quality of Life* ; Statistics as Topic

The Sturge Weber syndrome is an uncommon disorder characterized by port-wine nevus of the face with angiomatosis of the ipsilateral cerebral leptomeninges and extensive calcification in the underlying cerebral cortex. Associated with this syndrome are mental retardation, choroidal angioma, buphthalmus or glaucoma, seizure and hemiplegia. We studied a case of incomplete form of Sturage Weber syndrome in a 12 year-old boy, who had generalized seizure, a homonymous hemianopsia, intracranial calcification and leptomeningeal angiomatosis. There are no characteristic facial nevus, mental retardation, occular changes and hemiplegia.

Most textbooks for biostatistics only explain each individual statistical test with its mathematical formula. However, it is crucial to understand the relationships among the statistical methods and to properly integrate the individual methods to effectively apply them to real clinical research settings. The choice for valid statistical tests greatly depends on the dependency of the sample and the number of independent variables in the analyses as well as the measurement scale of dependent variables and independent variables. In this report, many statistical tests such as the two sample t-test, ANOVA, non-parametric tests, chi-square test, log-rank test, multiple linear regression, logistic regression, mixed model, and Cox regression model are addressed through hypothetical examples. The key for a successful analysis of a clinical experiment is to adopt suitable statistical tests. This study presents a guideline to clinical researchers for selecting valid and powerful statistical tests in their study design. The choice of suitable statistical tests increases the reliability of analytical results and therefore the possibility of accepting a researcher's clinical hypothesis. The proposed flowchart of appropriate tests of statistical inference will be of help to many clinical researchers to their study.
Biostatistics ; Dependency (Psychology) ; Linear Models ; Logistic Models ; Software Design ; Statistics, Nonparametric

PURPOSE: Because of recent global and domestic issues regarding the safety of food, there is growing concern over food safety and interest in the country-of-origin for food ingredients from restaurants. This study was conducted to reveal the influence of consumer level of knowledge and awareness regarding restaurants and the country-of-origin labeling. METHODS: To accomplish this, a primary survey of adults aged over 20 years old was conducted to measure customers' knowledge regarding country-of-origin labeling for restaurants. Respondents were then divided into a lower group and an upper group based on their level of knowledge to evaluate significant differences between groups. A total of 437 of 460 questionnaires were analyzed. RESULTS: The average knowledge score regarding country-of-origin labeling for restaurants was 6.3 out of 10. Additionally, there were significant differences between the lower and upper group in terms of the final education level and occupation. CONCLUSION: It is necessary to develop guidelines and public relations for country-of-origin labeling of restaurants.
Adult ; Education ; Food Safety ; Humans ; Occupations ; Public Relations ; Restaurants* ; Surveys and Questionnaires