INTRODUCTIONLong QT syndrome (LQTS), an inherited cardiac arrhythmia, is a disorder of ventricular repolarisation characterised by electrocardiographic abnormalities and the onset of torsades de pointes leading to syncope and sudden death. Genetic polymorphisms in 5 well-characterised cardiac ion channel genes have been identified to be responsible for the disorder. The aim of this study is to identify disease-causing mutations in these candidate genes in a LQTS family.

MATERIALS AND METHODSThe present study systematically screens the coding region of the LQTS-associated genes (KCNQ1, HERG, KCNE1, KCNE2 and SCN5A) for mutations using DNA sequencing analysis.

RESULTSThe mutational analysis revealed 7 synonymous and 2 non-synonymous polymorphisms in the 5 ion channel genes screened.

CONCLUSIONWe did not identify any clear identifiable genetic marker causative of LQTS, suggesting the existence of LQTS-associated genes awaiting discovery.

Adolescent ; Adult ; Child ; DNA Mutational Analysis ; ERG1 Potassium Channel ; Ether-A-Go-Go Potassium Channels ; analysis ; genetics ; Female ; Frameshift Mutation ; Humans ; KCNQ1 Potassium Channel ; analysis ; genetics ; Long QT Syndrome ; genetics ; Male ; Middle Aged ; Muscle Proteins ; analysis ; genetics ; NAV1.5 Voltage-Gated Sodium Channel ; Polymorphism, Genetic ; genetics ; Potassium Channels, Voltage-Gated ; analysis ; genetics ; Sodium Channels ; analysis ; genetics ; Trans-Activators

No abstract available.
Intracranial Hemorrhage, Hypertensive*

BACKGROUND AND AIMS: The objective of this paper is to compare the effectiveness of com-mon bile duct stone extraction by conditions and methods. METHODS: Endoscopic sphinc-terotomies with stone extraction were practiced in 71 patients with common bile duct stones by basket extraction, balloon extraction and mechanical lithotripsy. RESULTS: 1) In 71 patients with CBD stone, sex distribution showed predominence in females (56.3%) and most of the cases were over 60 years old. 2) After sphincterotomy, the overall success rate of the stone extraction was 87.3% (with balloon and basket or mechanical lithotrispy). The removal methods of the stone extractions were varied, but the most commonly used method was basket extraction (50.7%). 3) The complications of sphicterotomy were noted in 10 cases and in 8 cases minor bleeding was stopped with a hypertonic saline epinephrine injection. 4) After the stone extraction, counts and levels of leukocyte, aspartate transami-nase, alanine transaminase, alkaline phosphatase and total bilirubin were significantly improved (p <0.05). 5) Removal methods according to stone size did not show a signifi-cant difference, but the mean size of the stones was different. According to the several methods, the mean diameter of stones were different. The stone size was 1.1 cm in the case of spontaneous removal, 1.4 cm in balloon or basket removal, 1.9 cm in mechanical lithotripsy and 2.0 cm in surgical removal. CONCLUSIONS: Endoscopic stone extraction was effective and safe method with low rate of complications. However there were some significant difficulties in removing large or impacted stones, therefore EHL, ESWL or operation should be considered.
Alanine Transaminase ; Alkaline Phosphatase ; Aspartic Acid ; Bile Ducts ; Bilirubin ; Common Bile Duct* ; Epinephrine ; Female ; Hemorrhage ; Humans ; Leukocytes ; Lithotripsy ; Middle Aged ; Sex Distribution

BACKGROUND AND AIMS: Various gastric and duodenal lesions with gastrofiberscopy were observed in patients with obstructive biliary disease. METHODS: A clinical analysis of the endoscopic findings was carried out on 88 patients with obstructive biliary disease, from February 1994 to January 1998, in the department of Internal Medicine, Chungnam National University Hospital. RESULTS: 1) In the 88 patients, sex distribution showed predominance in the males (47/41) and most of the cases involved those in their 60's. 2) The obstructive biliary diseases were included, common bile duct stones (53.4%), common bile duct cancer (18.2%), pancreatic cancer (18.2%), Klatskin tumor (4.5%) and common hepatic duct cancer (3.4%). 3) The gastroduodenal lesions involved in the obstructive biliary diseases were, erosive gastritis (22.7%), duodenal ulcer (8.0%), gastric ulcer (5.7%), and acute duodenitis (3.4%) in orders. CONCLUSIONS: Significant upper gastrointestinal lesions were found in obstructive biliary disease.
Chungcheongnam-do ; Common Bile Duct ; Duodenal Ulcer ; Duodenitis ; Gastritis ; Hepatic Duct, Common ; Humans ; Internal Medicine ; Klatskin's Tumor ; Male ; Pancreatic Neoplasms ; Sex Distribution ; Stomach Ulcer

PURPOSE: Ductal carcinoma in situ (DCIS) is a high-risk disease for the development of invasive tumors. Although it is associated with excellent prognosis, many patients undergo extensive treatment with surgery, radiation, and endocrine therapy. This study evaluated the clinical and pathologic factors associated with invasive recurrence, particularly locoregional, distant disease after breast-conserving surgery (BCS). METHODS: This study included 431 patients diagnosed with pure DCIS after BCS between January 2000 and December 2008. The clinicopathological characteristics, margin status, adjuvant therapy, and duration of endocrine therapy were evaluated in hormone receptor-positive DCIS patients. RESULTS: The median duration of follow-up was 115 months. During this period, 37 cases (8.5%) of recurrence were observed (12 in situ and 23 invasive recurrence and 2 unknown cases). There was no distant metastasis as first event. Similarly, none of the initial in situ recurrence cases developed distant metastasis while eight (32%, 8/23) developed distant metastasis after invasive recurrence. Overall recurrence was associated with young age (≤40 years) (HR: 3.60, 95% confidence interval [CI]: 1.77–7.32) and hormone receptor negativity (HR: 3.33, 95% CI: 1.52–7.29). Invasive local recurrence was independently associated with young age (≤40 years) (HR: 3.86, 95% CI: 1.50–9.96), high nuclear grade (HR: 4.46, 95% CI: 1.62–12.27) and omission of adjuvant radiotherapy (HR: 6.45, 95% CI: 1.82–22.82). Notably, duration of endocrine treatment among the hormone receptor positive patient group, was numerically shorter for recurred patients, though not statistically significant. CONCLUSION Young age, high nuclear grade and absence of adjuvant radiotherapy were independently associated with an increased risk of invasive recurrence. Moreover, invasive locoregional recurrence as a first event was associated with worse outcomes, yet in situ recurrence didn't affect overall survival. Further studies with larger sample sizes are warranted to confirm the prognostic indicators of recurrence and the optimal strategy for adjuvant therapy in this setting.

OBJECTIVES: This study aimed to determine the effects of smoking on alcohol cravings in alcoholdependent individuals. METHODS: Study participants were 123 male smokers, 18 to 65 years of age, diagnosed with alcohol dependence. The study questionnaire consisted of demographic characteristics, alcohol drinking habits, smoking habits, the Korean Obsessive-Compulsive Drinking Scale (OCDS), the 12-item Tobacco Craving Questionnaire (12-item TCQ), and the Fagerstrom Test for Nicotine Dependence (FTND). We divided the subjects into high-OCDS score and low-OCDS score groups. RESULTS: The high-OCDS group had a higher alcohol drinking frequency and greater average amount of alcohol consumed than did the low-OCDS group. Also, the high-OCDS group smoked a higher average number of cigarettes per day and had higher 12-item TCQ scores and FTND scores. Logistic regression analysis showed scores of the 12-item TCQ and the FTND were the most significant variables for predicting alcohol cravings. CONCLUSION: This study shows that alcohol cravings are significantly related to cigarette cravings and to severity of nicotine dependence.
Alcohol Drinking ; Alcoholism ; Drinking ; Humans ; Logistic Models ; Male ; Nicotine ; Surveys and Questionnaires ; Smoke ; Smoking ; Tobacco ; Tobacco Products ; Tobacco Use Disorder

OBJECTIVE: To investigate the predictive index of functional recovery after primary pontine hemorrhage (PPH) using the combined motor evoked potential (MEP) and somatosensory evoked potential (SEP) in comparison to the hematoma volume and transverse diameter measured with computerized tomography. METHODS: Patients (n=14) with PPH were divided into good- and poor-outcome groups according to the modified Rankin Score (mRS). We evaluated clinical manifestations, radiological characteristics, and the combined MEP and SEP responses. The summed MEP and SEP (EP sum) was compared to the hematoma volume and transverse diameter predictive index of global disability, gait ability, and trunk stability in sitting posture. RESULTS: All measures of functional status and radiological parameters of the good-outcome group were significantly better than those of the poor-outcome group. The EP sum showed the highest value for the mRS and functional ambulatory category, and transverse diameter showed the highest value for "sitting-unsupported" of Berg Balance Scale. CONCLUSION: The combined MEP and SEP is a reliable and useful tool for functional recovery after PPH.
Evoked Potentials, Motor ; Evoked Potentials, Somatosensory* ; Gait ; Hematoma ; Hemorrhage* ; Humans ; Posture

BACKGROUND: Type 2 diabetes develops because of defects in both insulin secretion and action. The half-life of insulin in uremia is prolonged because the metabolic clearance rate of insulin in diabetic end stage renal disease (ESRD) patients is reduced with consequence that the dose of insulin and/or oral hypoglycemic agent (OHA) administered in normal renal function make them increase the risk of hypoglycemia. Therefore, we should usually reduce the dose of insulin and/or OHA, or stop administration of insulin and/or OHA if type 2 diabetic patients are progressed to ESRD. But in some patients, that is not true. The aim of this study was to test the hypothesis that insulin resistance plays an important role in (re)evaluation of optimal insulin and/or OHA dose for glycemic control after type 2 diabetic patients are progressed to ESRD. METHODS: Insulin resistance was examined in 23 type 2 diabetic ESRD patients with tight control of glycemia using the K index of the insulin tolerance test (Kitt). We divided 23 patients into three groups. Group 1 (n=10) was defined as patients who were administered neither insulin nor OHA after ESRD. Group 2 (n=9) was defined as patients who were changed from insulin to OHA as drug for glycemic control after ESRD. Group 3 (n=4) was defined as patients in whom insulin or OHA was continuously administered after ESRD without a change of them for glycemic control. We compared the degree of insulin resistance among these three groups. RESULTS: Insulin resistance determined by Kitt was significantly different between group 1 (Kitt, 2.1422/0.94-4.01%/min), group 2 (Kitt, 1.3811/0.79- 3.90%/min) and group 3 (Kitt, 0.8550/0.44-1.81%/min) by using Kruskal-Wallis test (p=0.048). Kitt in group 3 was significantly lower than in group 1 by using Mann-Whitney test (p=0.016). CONCLUSION: Although metabolic clearance of insulin is reduced by renal failure, demand of insulin/ OHA for optimal glycemic control is not reduced in higher insulin-resistant type 2 diabetic ESRD patients on hemodialysis. Insulin resistance plays an important role in determination of optimal insulin/ OHA dose for glycemic control after type 2 diabetic patients are progressed to ESRD.
Half-Life ; Humans ; Hypoglycemia ; Insulin Resistance* ; Insulin* ; Kidney Failure, Chronic* ; Metabolic Clearance Rate ; Renal Dialysis* ; Renal Insufficiency ; Uremia

BACKGROUND: The impact of the immune response on cancer gene therapy using viral vectors to deliver a "suicide gene" is currently unclear. A vigrous immune response targeted at viral proteins or transgene may enhance the efficacy of tumor destruction and even augment responses to tumor antigens. These responses may involve the release of cytokines and stimulation of tumor specific cytotoxic T-lymphocytes that enhance therapeutic efficacy. On the other hand, a vigorous rapid cellular immune response may destroy cells expressing the therapeutic gene and attenuate the response to therapy. Furthermore, development of neutralizing antibody responses may prevent readministration of virus, a potentially significant limitation. Evaluating the significance of these limitations in animal models and developing solutions are therefore of obvious importance. METHODS: After retroviral transduction of mouse mesothelioma cell line(AB12) with Herpes Simplex Virus thymidine kinase (HSVtk) gene in vitro, subcutaneous flank tumors were established. To study the effect of intact immune system on efficacy of tumor erradication, the ability of the HSVtk/ganciclovir system to inhibit tumor growth was compared among normal Balb/c mice, immunodeficient Balb/c-nude and SCID mice, and Balb/c mice immunosuppressed with cyclosporin. RESULTS: Ganciclovir treatment resulted in greater inhibition of tumor growth in Balb/c mice compared with immunodeficient Balb/c-nude mice and SCID mice(in immunodeficient mice, there were no growth inhibition by ganciclovir treatment). Ganciclovir treatment resulted in greater inhibition of tumor growth in non-cyclosporin (CSA) treated Balb/c mice compared with CSA treated Balb/c mice. On day 8, mean ganciclovir-treated tumor volume were 65% of control tumor volume in Balb/c mice versus 77% control tumor volume in CSA-treated Balb/c mice. This effect was still evident during therapy (day 11 and 13). On day 13, non-CSA treated tumor volume was 35% of control tumor volume versus 60% of control tumor volume in CSA treated Balb/c mice. Duration of expression of HSVtk was not affected by the immunosuppression with CSA. CONCLUSION: These results indicate that the immune responses against retrovirally transduced cells enhance the efficacy of the HSVtk/ganciclovir system. These findings have important implications for clinical trials using currently available retrovirus vectors as well as for future vector design.
Animals ; Antibodies, Neutralizing ; Antigens, Neoplasm ; Cyclosporine ; Cytokines ; Ganciclovir ; Genes, Neoplasm ; Genetic Therapy* ; Hand ; Herpes Simplex* ; Immune System* ; Immunity, Cellular ; Immunosuppression ; Mesothelioma ; Mice ; Mice, SCID ; Models, Animal ; Phosphotransferases* ; Retroviridae ; Simplexvirus* ; T-Lymphocytes, Cytotoxic ; Thymidine Kinase ; Transgenes ; Tumor Burden ; Viral Proteins ; Zidovudine

The present study compares the outcome of adult and pediatric patients with severe diffuse brain injury, and analyzes factors affecting the prognosis related to age difference. Of 912 patients admitted with head injury during the past three years, 223(1.7%) patients were identified as severe diffuse brain injury. Among the 223 patients. 100 patients were 15 years of age or less as the pediatric group. The mortality rate for pediatric and adult group was 39.0% and 48.8%, respectively. The common factors affecting poor prognosis for both groups were Glasgow Coma Scale(GCS) of 5 or less, papillary abnormality, hypoxia(PaO2<60 mmHg), the presence of skull fracture(basilar skull fracture in children, and basilar or vault skull fracture in adult group), diffuse brain swelling, subarachnoid hemorrhage, intraventricular hemorrhage, and thin subdural hematoma. The factors affecting prognostic difference between the adult and pediatric group with diffuse brain injury were the presence of vault skull fracture(p<0.01) and diffuse brain swelling(p<0.05). In patients associated with vault skull fracture or diffuse brain swelling, adult group had a significantly poorer outcome than child group.
Adult ; Brain ; Brain Edema ; Brain Injuries* ; Child ; Coma ; Craniocerebral Trauma ; Hematoma, Subdural ; Hemorrhage ; Humans ; Mortality ; Prognosis ; Skull ; Skull Fractures ; Subarachnoid Hemorrhage