Fabry disease (FD) is an X-linked lysosomal disorder caused by α-galactosidase A enzyme activity deficiency. Although glycosphingolipid analogs have been identified in the plasma or urine of patients with FD, there is a limited understanding of altered metabolomics profiles beyond the globotriaosylceramide accumulation in FD. Methods: Metabolomics study was performed for monitoring of biomarker and altered metabolism related with disease progression in serum and urine from male α-galactosidase A knockout mice and age-matched wild-type mice at 20 and 40 weeks. Profiling analysis for metabolites, including organic acids, amino acids, fatty acids, kynurenine pathway metabolites, and nucleosides in the serum and urine was performed using gas chromatography-tandem mass spectrometry and liquid chromatography-tandem mass spectrometry combined with star symbol patterns and partial least squares discriminant analysis (PLS-DA). Results: A total of 27 and 23 metabolites from the serum and urine of FD mice were distinguished from those of wild-type mice, respectively, based on p-value (<0.05) and variable importance in projection scores (>1.0) of PLS-DA. In the serum, metabolites of the glutathione, glutathione disulfide, citrulline, and kynurenine pathways that are related to oxidative stress, nitric oxide biosynthesis, and inflammation were increased, whereas those involved in pyruvate and tyrosine metabolism and the tricarboxylic acid cycle were altered in the 20- and 40-week-old urine of FD model mice. Conclusion: Altered metabolic signatures associated with disease progression by oxidative stress, inflammation, nitric oxide biosynthesis, and immune regulation in the early and late stages of FD.

No abstract available.
Intracranial Hemorrhages* ; Stroke*

BACKGROUND: It is important to assess the level of consciousness in patients with brain injuries to determine modes of treatment and prognosis. We evaluated the Bispectral Index (BIS) to determine if it could be used as an objective tool for evaluation of the level of consciousness in brain-injured patients. We also compared the BIS values to clinical sedation scales such as the Glasgow Coma Scale (GCS), Richmond Agitation-Sedation Scale (RASS), and the Reaction Level Scale (RLS). METHODS: Thirty eight patients with brain injuries that were admitted to the neurosurgery intensive care unit (NSICU) were enrolled in this study. An investigator evaluated the clinical sedation scales (GCS, RASS, RLS), while a blind observer noted the BIS in the same patient. The BIS score was obtained three times at an interval of 5 hours. The BISs were measured for 1 minute at 5 min prior to the nursing assessment, during the nursing assessment, and at 5 min after the nursing assessment. The BISs used in the data analysis were the maximal, minimal, and mean values obtained during 1 min, which were defined as BISmax, BISmin, and BISmean. A Spearman's rank correlation coefficient was used to determine if the clinical sedation scales were correlated with the BIS scores. RESULTS: In 38 patients, the BISmax, BISmin, and BISmean were found to be significantly correlated with the GCS, RASS, and RLS. The BISmean had the highest correlation with GCS (r = 0.445, P < 0.01), while the BIS min had the lowest correlation with RLS (r = -0.278, P < 0.01). CONCLUSIONS: The results of BIS monitoring were found to be significantly correlated with sedation scales in patients with brain injuries. These findings suggest that BIS can be used as an objective and continuous method for assessment of the level of consciousness in patients with brain injury.
Brain ; Brain Injuries ; Consciousness ; Consciousness Monitors ; Glasgow Coma Scale ; Humans ; Intensive Care Units ; Neurosurgery ; Nursing Assessment ; Prognosis ; Research Personnel ; Statistics as Topic ; Weights and Measures

OBJECTIVE: This study was conducted to evaluate both personal and work-related factors associated with occupational injuries of ship-building supply workers in Busan, Korea. METHODS: A self-administered, questionnaire survey, asking both personal and work-related factors associated with occupational injuries, was administered to 1,651 workers from 64 different ship-building supply companies in Busan, Korea. All occupational injuries had occurred within the previous 5 years. The workers were divided into three sub-groups: Group I, under 4 day-sick leave, Group II, 4 day-sick leave and over, and Group III, which consisted of both Groups I and II. The statistical significance of the factors associated with occupational injuries underwent cross tabulation analysis for each group. Afterwards, the relationships between the factors which had statistical significance and the occurrence of occupational injuries were analyzed through multiple logistic regression by using the SPSS 12.0 K program. RESULTS: The prevalence of occupational injuries was 4.30% in Group II and 7.57% in Group III. The work activities which had the most frequent occupational injuries were 'Fit-up' and 'Welding', and 30.0% of injured workers were covered by workers' compensation in Group II. According to the multiple logistic regression analysis results, the factors which had statistical significance in occupational injury occurrence were education level above college (OR 2.78) and high level of fatigue (OR 2.18) in Group I, sleeping less than 5 hours per day (OR 3.47), high level of fatigue (OR 2.79) and working over 56 hours per week (OR 1.53) in Group II, and education level above college (OR 1.78), sleeping less than 5 hours per day (OR 2.98), poor sleep quality (OR 1.65) and high level of fatigue (OR 2.58) in Group III. CONCLUSION: This study demonstrated that several factors of ship-building supply workers such as sleep hours, sleep quality, fatigue, working hours, and educational level exerted a statistical effect on the occurrence of occupational injuries. In association with occupational injuries occurrence, these factors need to be controlled by proper methods such as effective safety education, work condition modification, and life style management.
Fatigue ; Humans ; Korea ; Life Style ; Logistic Models ; Occupational Injuries ; Prevalence ; Questionnaires ; Workers' Compensation

OBJECTIVE: This study was conducted to evaluate both personal and work-related factors associated with occupational injuries of ship-building supply workers in Busan, Korea. METHODS: A self-administered, questionnaire survey, asking both personal and work-related factors associated with occupational injuries, was administered to 1,651 workers from 64 different ship-building supply companies in Busan, Korea. All occupational injuries had occurred within the previous 5 years. The workers were divided into three sub-groups: Group I, under 4 day-sick leave, Group II, 4 day-sick leave and over, and Group III, which consisted of both Groups I and II. The statistical significance of the factors associated with occupational injuries underwent cross tabulation analysis for each group. Afterwards, the relationships between the factors which had statistical significance and the occurrence of occupational injuries were analyzed through multiple logistic regression by using the SPSS 12.0 K program. RESULTS: The prevalence of occupational injuries was 4.30% in Group II and 7.57% in Group III. The work activities which had the most frequent occupational injuries were 'Fit-up' and 'Welding', and 30.0% of injured workers were covered by workers' compensation in Group II. According to the multiple logistic regression analysis results, the factors which had statistical significance in occupational injury occurrence were education level above college (OR 2.78) and high level of fatigue (OR 2.18) in Group I, sleeping less than 5 hours per day (OR 3.47), high level of fatigue (OR 2.79) and working over 56 hours per week (OR 1.53) in Group II, and education level above college (OR 1.78), sleeping less than 5 hours per day (OR 2.98), poor sleep quality (OR 1.65) and high level of fatigue (OR 2.58) in Group III. CONCLUSION: This study demonstrated that several factors of ship-building supply workers such as sleep hours, sleep quality, fatigue, working hours, and educational level exerted a statistical effect on the occurrence of occupational injuries. In association with occupational injuries occurrence, these factors need to be controlled by proper methods such as effective safety education, work condition modification, and life style management.
Fatigue ; Humans ; Korea ; Life Style ; Logistic Models ; Occupational Injuries ; Prevalence ; Questionnaires ; Workers' Compensation

Recently it was shown that single nucleotide polymorphisms (SNPs) can explain individual variation because of the small changes of the gene expression level and that the 50% decreased expression of an allele might even lead to predisposition to cancer. In this study, we found that a decreased expression of an allele might cause predisposition to genetic disease. Dopa responsive dystonia (DRD) is a dominant disease caused by mutations in GCH1 gene. The sequence analysis of the GCH1 in a patient with typical DRD symptoms revealed two novel missense mutations instead of a single dominant mutation. Family members with either of the mutations did not have any symptoms of DRD. The expression level of a R198W mutant allele decreased to about 50%, suggesting that modestly decreased expression caused by an SNP should lead to predisposition of a genetic disease in susceptible individuals.
Child ; Clubfoot/genetics ; Dopamine/deficiency ; Dystonic Disorders/drug therapy/enzymology/*genetics/physiopathology ; GTP Cyclohydrolase/*genetics/metabolism ; Genes, Recessive ; *Genetic Predisposition to Disease ; Humans ; Levodopa/administration & dosage ; Male ; Mutation, Missense ; Pedigree ; Polymorphism, Genetic

BACKGROUND AND OBJECTIVES: Aortic valve sclerosis (AVS) is often considered to be benign and it is also considered to be a manifestation of generalized atherosclerosis that involves the aortic valve. However, it is associated with high cardiovascular morbidity and mortality in a population-based study. This study was performed to evaluate the significance of AVS in patients with suspected coronary artery disease (CAD). SUBJECTS AND METHODS: Patients with AVS (AVS group, n=111) and patients with normal aortic valves (control group, n=99) who underwent coronary angiography (CAG) between May, 2004 and June, 2004 were enrolled in this study. We compared the CAG findings and the CAD risk factors in both groups, and we evaluated the diagnostic value of AVS for predicting CAD. We also performed multivariate logistic regression analysis for the risk factors, including AVS, of CAD. RESULTS: This study showed that AVS is an independent echocardiographic predictor of significant CAD in the patients with suspected CAD (OR=2.55, 95% CI: 1.25 to 5.17, p<0.001). The other independent predictors include the male gender and hypertension. AVS has a relatively high positive predictive value (75.7%) and predictive accuracy (65.2%) for the patients with suspected CAD. CONCLUSION: The recognition of AVS on transthoracic echocardiography should alert the physicians to the possibility of significant underlying CAD and further evaluation is indicated, even though angiographic documentation might not be available.
Aortic Valve* ; Atherosclerosis ; Coronary Angiography ; Coronary Artery Disease* ; Coronary Disease ; Coronary Vessels* ; Echocardiography ; Humans ; Hypertension ; Logistic Models ; Male ; Mortality ; Risk Factors* ; Sclerosis*

Presacral teratomas are rare tumors derived from embryonic germ layers. They present mostly in infancy and are extremely rare in adults. Patient with presacral teratoma in adults may be asymptomatic on initial presentation. The symptoms are due to their size, to the compression of pelvic viscera or to their complications. CT or MRI are the important investigations for characterization of the mass, evaluation of its intrapelvic extension and relationship to other structures. The treatment of presacral teratomas is mainly complete surgical resection. We report a case of presacral teratoma in 47-year-old woman with a brief review of the literatures.
Adult* ; Female* ; Germ Layers ; Humans ; Magnetic Resonance Imaging ; Middle Aged ; Teratoma* ; Viscera

Primary mixed carcinoid with mucinous tumor of borderline malignancy of the ovary is very rare ovarian tumor. Most of them arose in dermoid cyst or in mature solid teratoma. Its diagnosis was based on histological and immunohistochemical findings. We experienced a case of primary mixed carcinoid postoperatively and present with a brief review of literatures.
Carcinoid Tumor* ; Dermoid Cyst ; Diagnosis ; Female ; Mucins* ; Ovary* ; Teratoma

Primary Pulmonary Hypertension (PPH) predominantly affects women frequently in the prime of life and usually leads to death from right ventricular failure within a few years after diagnosis. The prevalence and etiology of familial PPH are uncertain. The age of onset is variable and penetrance is incomplete. Although its occurrence in families was reported within a few years after the original clinical report, PPH was formely believed rarely to have a gene basis. Recent progress has not only clarified a basic molecular mechanism for PPH in familise, but also identified mutations of the same gene in many sporadic PPH patients, suggestion that its basis is commonly genetic. We report a case of familial PPH in a 20-year-old male with exetional dyspnea, who has a family history of PPH in his mother. We report this case with a brief review of recent literatures.
Age of Onset ; Diagnosis ; Dyspnea ; Female ; Genes, vif ; Humans ; Hypertension, Pulmonary* ; Male ; Mothers ; Penetrance ; Prevalence ; Young Adult