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.

BACKGROUND/AIMS: Adenoma detection rate (ADR) is widely used as an index of colonoscopy quality management. Although advanced adenomas can be found less frequently than non-advanced adenomas, advanced adenomas have a higher clinical significance during screening for colorectal cancer. The aim of this study was to investigate the correlation between advanced and non-advanced ADR among colonoscopists. METHODS: This study is an observational study of a cohort of patients undergoing screening colonoscopy between 2009 and 2010. We collected the data on patients' characteristics and colonoscopic findings. The detection rates of adenoma and advanced adenoma were calculated. Logistic regression was used to determine the effects of variables on advanced adenoma detection, and spearman's rank-order correlation was used to evaluate the relationship between advanced ADR and ADR. RESULTS: A total of 561 patients underwent screening colonoscopy by 18 experienced colonoscopists. Most colonoscopists had adequate (>20%) ADRs. Logistic regression showed that increased patient age (OR 1.07 per 1 year increase, 95% CI 1.009-1.133, p=0.023) and male gender (OR 1.860, 95% CI 0.764-4.529, p=0.171) were associated with advanced ADR. When colonoscopists were divided into two groups on the basis of advanced ADR of 5%, ADR was also significantly higher in the group having higher level of advanced ADR. However, there was no correlation between advanced ADR and ADR among colonoscopists as an individual. CONCLUSIONS: Colonoscopists' advanced ADRs were independent of their ADRs, indicating that advanced ADR could be quite low even among colonoscopists with acceptable ADRs. Thus, there seems to be a limitation in using ADR as an adequate index of colonoscopy quality management.
Adenoma/*diagnosis ; Adult ; Aged ; Cohort Studies ; Colonoscopy ; Colorectal Neoplasms/*diagnosis ; Early Detection of Cancer ; Female ; Humans ; Logistic Models ; Male ; Middle Aged ; Neoplasm Staging ; Odds Ratio

BACKGROUND: Smoking is a major risk factor of stroke, but not all smokers develop stroke. This individual difference could be explained by the variation of detoxification capacity. We investigated the relationship of smoking with the genetic polymorphism of a detoxification enzyme (glutathione S-transferase: GST). METHODS: This study was conducted as a case-control study. Conventional risk factors for stroke and 3 genetic polymorphisms of GST (GSTM1, GSTT1, and GSTP1) were studied in both 290 acute ischemic stroke patients and 290 age and sex matched controls. Smoking status was determined by urinary cotinine level. The effect of interaction of GST polymorphisms and smoking on stroke risk was investigated. RESULTS: Stroke patients had higher cotinine level compared to that of control (P<0.01). There was little difference between the patient group and control group with regard to the GST polymorphism alone, but significant interaction was noticed between the GST polymorphism and the smoking status. When we stratified the group according to the smoking status by cotinine level, stroke was significantly more frequent in GSTM1 null type and GSTT1, GSTP1 wild type of the high cotinine level group (OR and 95% CI: 2.115, 1.219-3.670; 2.620, 1.480-4.638; 2.212, 1.343-3.644 respectively). CONCLUSION: GST polymorphisms interact with the smoking and confer an increased risk of ischemic stroke, indicating that genetic polymorphism of GST might reveal smokers who are more susceptible to the ischemic stroke.
Case-Control Studies ; Cotinine ; Glutathione ; Glutathione Transferase ; Humans ; Individuality ; Polymorphism, Genetic ; Risk Factors ; Smoke ; Smoking ; Stroke

OBJECTIVE: This preliminarily study was designed to determine and to compare the efficacy of two commercially available barium-based fecal tagging agents for CT colonography (CTC) (high-density [40% w/v] and low-density [4.6% w/v] barium suspensions) in a population in Korea. MATERIALS AND METHODS: In a population with an identified with an average-risk for colorectal cancer, 15 adults were administered three doses of 20 ml 40% w/v barium for fecal tagging (group I) and 15 adults were administered three doses of 200 ml 4.6% w/v barium (group II) for fecal tagging. Excluding five patients in group I and one patient in group II that left the study, ten patients in group I and 14 patients in group II were finally included in the analysis. Two experienced readers evaluated the CTC images in consensus regarding the degree of tagging of stool pieces 6 mm or larger. Stool pieces were confirmed with the use of standardized CTC criteria or the absence of matched lesions as seen on colonoscopy. The rates of complete fecal tagging were analyzed on a per-lesion and a per-segment basis and were compared between the patients in the two groups. RESULTS: Per-lesion rates of complete fecal tagging were 52% (22 of 42; 95% CI, 37.7-66.6%) in group I and 78% (28 of 36; 95% CI, 61.7-88.5%) in group II. The difference between the two groups did not reach statistical significance (p = 0.285). The per-segment rates of complete tagging were 33% (6 of 18; 95% CI, 16.1%-56.4%) in group I and 60% (9 of 15; 95% CI, 35.7%-80.3%) in group II; again, the difference between the two groups did not reach statistical significance (p = 0.171). CONCLUSION: Barium-based fecal tagging using both the 40% w/v and the 4.6% w/v barium suspensions showed moderate tagging efficacy. The preliminary comparison did not demonstrate a statistically significant difference in the tagging efficacy between the use of the two tagging agents, despite the tendency toward better tagging with the use of the 4.6% w/v barium suspension.
Administration, Oral ; Adult ; Barium/administration & dosage/*diagnostic use ; Colon/radiography ; *Colonography, Computed Tomographic/methods ; Colonoscopy ; Colorectal Neoplasms/diagnosis/radiography ; Contrast Media/*administration & dosage ; *Feces ; Female ; Humans ; Male ; Middle Aged ; Suspensions

BACKGROUND: Though leptin, the adipocytes-derived hormone, plays an important role in obesity, it can act as a growth factor for several cancers including gastrointestinal malignancies. Based on this background, we investigated whether leptin expression correlated with the clinicopathological characteristics or disease outcome in patients with colon cancer. We immunohistochemically analyzed the expression of leptin in a "colon adenoma-carcinoma sequence" in the normal colon mucosa, an adenomatous polyp and adenocarcinoma tissue, from a surgical resection for each patient. METHODS: We collected samples from 24 patients with a colorectal adenocarcinoma that was removed in either a total colectomy or hemicolectomy, and who presented with an adenomoatous polyp and an adenocarcinoma in the same surgical specimen. Leptin expression was assessed using immunohistochemical methods and was evaluated by grading the staining intensity as 0, +1, +2, +3. RESULTS: Whereas leptin expression was observed in 4.2% (1/24) of the normal colon mucosa, adenomatous polyps and adenocarcinomas showed 33.3% (8/24) and 50.0% (12/24) expression of leptin, respectively (p<0.05), suggesting that leptin expression in the adenomatous polyps and adenocarcinomas was higher than in the normal colon mucosa (p<0.05). There was no significant difference in leptin expression between the adenomatous polyps and adenocarcinomas, statistically. There was no relationship between leptin expression and patients age, sex, BMI (body mass index), cancer stage, and lymph node metastasis. However, the tumor size in the positive leptin expression group was larger than in the negative leptin expression group (5.6+/-2.2 cm vs 3.9+/-1.4 cm; p<0.05) CONCLUSIONS: Since leptin expression in adenomatous polyps and adenocarcinomas was higher than in the normal colon mucosa and leptin expression significantly correlated with the tumor size, leptin might play a role in the development of an adenomatous polyp and an adenocarcinoma in the colon. However, leptin does not contribute to the progression of colon adenoma, and further evaluation studies will be required.
Adenocarcinoma* ; Adenoma ; Adenomatous Polyps* ; Colectomy ; Colon* ; Colonic Neoplasms* ; Humans ; Leptin* ; Lymph Nodes ; Mucous Membrane ; Neoplasm Metastasis ; Obesity ; Polyps

BACKGROUND AND OBJECTIVES: Diffuse coronary artery disease presents physicians with a therapeutic challenge. The results after the use of bare metal stents (BMS) are limited by the high rate of restenosis. The introduction of drugeluting stent (DES) has prompted interventional cardiologists to treat long diffuse lesions with multiple overlapping stents. The purpose of this study is to determine the safety and efficacy of using multiple overlapping DESs for patients with diffuse coronary artery disease. SUBJECTS AND METHODS: From Jan. 2002 to Dec 2004, 83 consecutive patients suffering with diffuse coronary artery disease who underwent stent implantation with a minimum of 50 mm long BMSs or DESs were analyzed. The patients who had overlapping stents for dissection without diffuse lesion or they had BMS with overlapping DES were excluded from the study. The patients were divided into two group, the BMS group (group I: 29 patients, 63.0+/-8.2 years) and the DES group (group II: 56 patients, 60.6+/-9.3 years). The major adverse cardiac events (MACE), including death, myocardial infarction (MI), target vessel revascularization (TVR) and coronary artery bypass grafting (CABG), were examined. RESULTS: The mean number of stents implanted was 2.19+/-0.4 in group I and 2.08+/-0.2 in group II, whereas the total mean length of the stents was 61.5+/-9.3 mm in group I and 61.4+/-9.1 mm in group II (p=NS). Procedural success was achieved for 89.7% of the patients in group I and for 96.3% of the patients in group II. No acute stent thrombosis was observed in both groups. All the patients underwent clinical follow-up (mean follow-up: 15+/-8.9 months, range: 7-36 months), and 66.2 % had an angiographic follow-up done at six months. During the follow-up, MACE was the cause of two deaths; there were thirteen TVRs and one CABG in group I, and there was one MI and five TVRs in group II. The TVR rate was lower in group II compared with group I (44.8% vs. 9.3%, respectively; p<0.001). Late stent thrombosis developed for one patient in group II. CONCLUSION: The implantation of overlapping DESs in patients with diffuse coronary artery disease is safe and this treatment is associated with better clinical outcomes than that with using BMS.
Coronary Artery Bypass ; Coronary Artery Disease* ; Coronary Disease ; Coronary Restenosis ; Coronary Vessels* ; Drug-Eluting Stents* ; Follow-Up Studies ; Humans ; Myocardial Infarction ; Stents ; Thrombosis

BACKGROUND: Daptomycin is a novel cyclic lipopeptide antibiotic that exhibits in vitro bactericidal activity against gram-positive pathogens including methicillin-resistant staphylococci and vancomycin-resistant enterococci. The aim of this study is to determine the in vitro activities of daptomycin against recent clinical isolates of methicillin-resistant staphylococci and vancomycin-resistant enterococci in Korea. MATERIALS AND METHODS: A total of 117 clinical strains of methicillin-resistant staphylococci and vancomycin-resistant enterococci were isolated at a tertiary-care hospital in Korea in 2004. Susceptibility to daptomycin was tested by the CLSI broth microdilution method using Mueller-Hinton broth (MHB) which was adjusted to contain a final concentration of 50 microgram/mL of ionized calcium (Ca2+). Susceptibilities to ampicillin, oxacillin, levofloxacin, vancomycin, and linezolid were tested by the CLSI agar dilution method. RESULTS: All isolates of methicillin-resistant S. aureus and coagulase-negative staphylococci were inhibited by 1 microgram/mL of daptomycin, and MIC90s were 1 microgram/mL, which were similar to those of vancomycin and linezolid. MIC90s of daptomycin for vancomycin-resistant E. faecalis and E. faecium were 0.5 microgram/mL and 2 microgram/mL, respectively, and all isolates were susceptible to daptomycin. MIC90s of linezolid and levofloxacin for vancomycin-resistant enterococci were 1-2 microgram/mL and 64 microgram/mL, respectively. Resistance rates of vancomycin-resistant E. faecalis and E. faecium to levofloxacin were 100% and 96%, respectively. Daptomycin MICs in MHB supplemented to 20-25 microgram/ml of Ca2+ were 2-8 fold higher than those in MHB supplemented to 50 microgram/mL of Ca2+. CONCLUSION: Daptomycin is very active in vitro against methicillin-resistant staphylococci and vancomycin-resistant enterococci isolated in Korea, and it is important to test in vitro activity of daptomycin using MHB containing 50 microgram/mL of Ca2+.
Agar ; Ampicillin ; Calcium ; Daptomycin* ; Korea* ; Levofloxacin ; Linezolid ; Methicillin Resistance* ; Methicillin-Resistant Staphylococcus aureus ; Oxacillin ; Vancomycin