Ataxia is presented by various etiologies, including acquired, genetic and degenerative disorders. Although hereditary ataxia is suspected when typical symptom of ataxia with concurrent is identified, it is sometimes difficult to diagnose hereditary ataxia without genetic test. Clinically, next generation sequencing technology has been developed and widely used for diagnosis of hereditary disease. Hereby, we experienced cases of genetically confirmed OPA1 mutation, which are presented with various clinical manifestations including ataxic gait and decreased visual acuity.

GuillainBarré syndrome (GBS) is the inflammatory neuropathy that affects the myelin and nodal or paranodal areas of peripheral nerves. Immunoglobulin G GM1 antibody is well known as the cause of GBS associated with Campylobacter jejuni infection. However, the relationship between other specific infectious agents and autoantibodies is not yet well elucidated in patients with GBS. Recently we have experienced a case with GBS associated with antiGM1 and phosphatidic acid complex antibody that occurred after Shiga toxinproducing and enterotoxigenic Escherichia coli enteritis.

PURPOSE: The purpose of this study was to examine the effectiveness of Action Research (AR) approach in nursing. METHODS: Participants were 64 perioperative nurses recruited from C hospital in Gwangju, Korea. The nurses were engaged in the project through 2 cycles of planning, acting, observing, and reflecting. A mixed-methods design was used to examine changes in participants and their knowledge management practice. Quantitative data were analyzed using SPSS 20.0 program and qualitative reflection data underwent content analysis. RESULTS: During the project, participants developed standardized pre-operative checklists and opened an Internet Cafe to better manage their perioperative nursing information. At the end of the project, there was a significant increase in nurses' knowledge management (p=.015) and the rate of surgical material prescription errors decreased from 8.0% to 2.9%. Core AR project team members' teamwork skills and organizational commitment increased significantly (p=.040, p=.301, respectively). The main themes that emerged from the qualitative data were learning how to solve problems in practice, facilitating team activities through motivation, barriers of large participation, and rewarded efforts and inflated expectations. CONCLUSION: The AR project contributed to empowering participants to solve local problems. AR is a useful methodology to promote changes in practices and research participants.
Checklist ; Health Services Research ; Internet ; Knowledge Management ; Korea ; Learning ; Motivation ; Operating Rooms ; Perioperative Nursing ; Prescriptions ; Quality Improvement ; Reward

No abstract available.
Epidural Abscess* ; Meningitis, Bacterial*

The purpose of this study was to evaluate the accuracy of a mobile wireless digital automatic blood pressure monitor for clinical use and mobile health (mHealth). In this study, a manual sphygmomanometer and a digital blood pressure monitor were tested in 100 participants in a repetitive and sequential manner to measure blood pressure. The guidelines for measurement used the Korea Food & Drug Administration protocol, which reflects international standards, such as the American National Standard Institution/Association for the Advancement of Medical Instrumentation SP 10: 1992 and the British Hypertension Society protocol. Measurements were generally consistent across observers according to the measured mean ± SD, which ranged in 0.1 ± 2.6 mmHg for systolic blood pressure (SBP) and 0.5 ± 2.2 mmHg for diastolic blood pressure (DBP). For the device and the observer, the difference in average blood pressure (mean ± SD) was 2.3 ± 4.7 mmHg for SBP and 2.0 ± 4.2 mmHg for DBP. The SBP and DBP measured in this study showed accurate measurements that satisfied all criteria, including an average difference that did not exceed 5 mmHg and a standard deviation that did not exceed 8 mmHg. The mobile wireless digital blood pressure monitor has the potential for clinical use and managing one's own health.
Blood Pressure Monitors* ; Blood Pressure* ; Hypertension ; Korea ; Methods* ; Self Care* ; Sphygmomanometers ; Telemedicine

UDP-glucuronosyltransferase 1A9 (UGT1A9) is a major phase II enzyme responsible for elimination of drugs and endogenous molecules. Clinical data have shown increased elimination of UGT1A9 substrates in pregnant women or oral contraceptive users, but the role of estrogen in the regulation of UGT1A9 expression remains unknown. In this study, we investigated the effect of 17-estradiol (E2) on UGT1A9 expression and the role of ERin the transcriptional regulation of UGT1A9. E2 significantly increased UGT1A9 promoter activity in HepG2 cells in the presence of ER. UGT1A9 induction by E2 was abrogated by antiestrogen ICI182,780 in HepG2 cells that constitutively express ER. Results from transient transfection of ERmutants into HepG2 cells demonstrated that mutation at DNA-binding domain of ERabrogates increased UGT1A9 promoter activity by E2. Deletion and mutation assays of UGT1A9 promoter revealed a putative ERE located within -2262/-1987 region. Examination of healthy human liver tissues revealed significantly higher UGT1A9 expression in women as compared to men. Together, these findings provide a mechanistic basis for the previous clinical reports and may shed a light on identifying sources for inter-individual variability in UGT1A9-mediated drug metabolism.

Variations in drug metabolism may alter drug efficacy and cause toxicity; better understanding of the mechanisms and risks shall help to practice precision medicine. At the 21International Symposium on Microsomes and Drug Oxidations held in Davis, California, USA, in October 2-6, 2016, a number of speakers reported some new findings and ongoing studies on the regulation mechanisms behind variable drug metabolism and toxicity, and discussed potential implications to personalized medications. A considerably insightful overview was provided on genetic and epigenetic regulation of gene expression involved in drug absorption, distribution, metabolism, and excretion (ADME) and drug response. Altered drug metabolism and disposition as well as molecular mechanisms among diseased and special populations were presented. In addition, the roles of gut microbiota in drug metabolism and toxicology as well as long non-coding RNAs in liver functions and diseases were discussed. These findings may offer new insights into improved understanding of ADME regulatory mechanisms and advance drug metabolism research.