No abstract available.
Adrenogenital Syndrome* ; Congenital Hypothyroidism*

BACKGROUND: Through a genome-wide search using the genetic markers(RFLP genetic markers), the familial hypertrophic cardiomyopathy(FHCM) with an autosomal dominant mode of inheritance has been firstly detected to be genetically linked to chromosome 14q1. The subsequent studies have shown that the point mutations at the exons encoding for the head and head /rod junction of the cardiac beta myosin heavy chain(beta-MHC) are the most frequent type of mutation in the FHCM families genetically implicated with a linkage to beta-MHC, whereas the alpha/beta-MHC hybrid gene and a large deletion at the 3' region of beta-MHC gene were also rarely detected. With the other families genetically implicated with the chromosomes 1,11,15,16 and 18, FHCM also manifests locus heterogeneity, a phenomenon in which abnormalities at different genes are involved in different families. In addition, a korean FHCM family with 403Arg-->Gln mutation of beta-MHC gene has been previously found by an american research group. METHODS: For clinical diagnosis, echocardiography and electrocardiography were performed on the individual members of a korean FHCM family. The microsatellite markers(MYO-I,MYO-II) located in the beta-MHC gene region were amplified by PCR(polymerase chain reaction) and the polymorphism was analyzed for the possible linkage to the phenotypic expression of FHCM. Independently, the same PCR products of the exons 13 and 23 were digested with the specific restriction enzymes for the presence of the most frequently reported point mutations of beta-MHC gene (403 and 908 amino acid mutations). Single strand conformation polymorphism(SSCP) of the exon 13 and 23 of the beta-MHC gene was also analyzed of the mobility shift expected if any point mutation is present at these two exons. RESULTS: The inheritance pattern of HCM(hypertrophic cardiomyopathy) in the family is considered as autosomal dominant. In this family(KU 101), one of the microsatellite markers(MYO-II) indicated the possible cosegregation between the allele was also present in the 32-year-old brother of the proband, who reveals no clinical signs of the disease. The other microsatellite genetic marker(MYO-I) was uninformative, without giving the discriminating power to verify the linkage to beta-MHC gene. In the analysis for two common mutations of beta-MHC gene by PCR-RFLP and PCR-SSCP, no evidence was found for 403 and 908 amino acid mutations and any point mutation in the exons 13 and 23. CONCLUSIONS: Based on the linkage analysis using microsatellite genetic markers, there was a possibility that the disease could be linked to an abnormality in the beta-MHC gene of the chromosome 14q1.
Adult ; Alleles ; Cardiomyopathy, Hypertrophic, Familial* ; Diagnosis ; Echocardiography ; Electrocardiography ; Exons ; Genetic Markers ; Head ; Humans ; Inheritance Patterns ; Mass Screening* ; Microsatellite Repeats ; Point Mutation ; Polymerase Chain Reaction ; Population Characteristics ; Siblings ; Ventricular Myosins* ; Wills

BACKGROUND: Through a genome-wide search using the genetic markers(RFLP genetic markers), the familial hypertrophic cardiomyopathy(FHCM) with an autosomal dominant mode of inheritance has been firstly detected to be genetically linked to chromosome 14q1. The subsequent studies have shown that the point mutations at the exons encoding for the head and head /rod junction of the cardiac beta myosin heavy chain(beta-MHC) are the most frequent type of mutation in the FHCM families genetically implicated with a linkage to beta-MHC, whereas the alpha/beta-MHC hybrid gene and a large deletion at the 3' region of beta-MHC gene were also rarely detected. With the other families genetically implicated with the chromosomes 1,11,15,16 and 18, FHCM also manifests locus heterogeneity, a phenomenon in which abnormalities at different genes are involved in different families. In addition, a korean FHCM family with 403Arg-->Gln mutation of beta-MHC gene has been previously found by an american research group. METHODS: For clinical diagnosis, echocardiography and electrocardiography were performed on the individual members of a korean FHCM family. The microsatellite markers(MYO-I,MYO-II) located in the beta-MHC gene region were amplified by PCR(polymerase chain reaction) and the polymorphism was analyzed for the possible linkage to the phenotypic expression of FHCM. Independently, the same PCR products of the exons 13 and 23 were digested with the specific restriction enzymes for the presence of the most frequently reported point mutations of beta-MHC gene (403 and 908 amino acid mutations). Single strand conformation polymorphism(SSCP) of the exon 13 and 23 of the beta-MHC gene was also analyzed of the mobility shift expected if any point mutation is present at these two exons. RESULTS: The inheritance pattern of HCM(hypertrophic cardiomyopathy) in the family is considered as autosomal dominant. In this family(KU 101), one of the microsatellite markers(MYO-II) indicated the possible cosegregation between the allele was also present in the 32-year-old brother of the proband, who reveals no clinical signs of the disease. The other microsatellite genetic marker(MYO-I) was uninformative, without giving the discriminating power to verify the linkage to beta-MHC gene. In the analysis for two common mutations of beta-MHC gene by PCR-RFLP and PCR-SSCP, no evidence was found for 403 and 908 amino acid mutations and any point mutation in the exons 13 and 23. CONCLUSIONS: Based on the linkage analysis using microsatellite genetic markers, there was a possibility that the disease could be linked to an abnormality in the beta-MHC gene of the chromosome 14q1.
Adult ; Alleles ; Cardiomyopathy, Hypertrophic, Familial* ; Diagnosis ; Echocardiography ; Electrocardiography ; Exons ; Genetic Markers ; Head ; Humans ; Inheritance Patterns ; Mass Screening* ; Microsatellite Repeats ; Point Mutation ; Polymerase Chain Reaction ; Population Characteristics ; Siblings ; Ventricular Myosins* ; Wills

There is no information on the effects of variable amounts of water given less than 2 hour before induction of general anesthesia, although most patients receive oral premedication at that time. We have studied the effect of the volume of water which should accompany diazepam 0.2 mg/kg oral premedication given 90 minutes before induction of anesthesia in 75 patients undergoing elective laparoscopic cholecystectomy. The patients, ASA physical status I, randomly assigned to one of five groups. Fifteen patients were received no premedication (group A), 15 patients 50 ml (group B), 15 patients 100 ml (group C), 15 patients 150 ml (group D), and 15 patients 200 ml of water (group E). Immediately following induction of anesthesia the gastric fluid was obtained by suction on a nasogastric tube and its volume and pH were measured. Gastric fluid volume showed no statistically significant differences among the groups. Values for pH among the groups were also similar. All premedication groups reported a reduction in thirst after water intake, while only group D reported significant anxiolysis. We conclude that 150 ml is the ideal amount of water given with oral prnedication 90 minutes before general anesthesia.
Anesthesia ; Anesthesia, General ; Anxiety* ; Cholecystectomy, Laparoscopic ; Diazepam* ; Drinking ; Humans ; Hydrogen-Ion Concentration* ; Premedication* ; Suction ; Thirst ; Water*

OBJECTIVES: The goal was to model and quantify the atmospheric concentrations of volatile organic compounds (VOCs) as the result of the Hebei Spirit oil spill, and to predict whether the exposure levels were abnormally high or not. METHODS: We developed a model for calculating the airborne concentration of VOCs that are produced in an oil spill accident. The model was applied to a practical situation, namely the Hebei Spirit oil spill. The accuracy of the model was verified by comparing the results with previous observation data. The concentrations were compared with the currently used air quality standards. RESULTS: Evaporation was found to be 10- to 1,000-fold higher than the emissions produced from a surrounding industrial complex. The modeled concentrations for benzene failed to meet current labor environmental standards, and the concentration of benzene, toluene, ortho- meta- para-xylene were higher than the values specified by air quality standards and guideline values on the ocean. The concentrations of total VOCs were much higher than indoor environmental criteria for the entire Taean area for a few days. CONCLUSIONS: The extent of airborne exposure was clearly not the same as that for normal conditions.
Benzene ; Humans ; Petroleum Pollution ; Toluene ; Volatile Organic Compounds ; Volatilization ; Xylenes

PURPOSE: Eupatilin is an antioxidative flavone and a phytopharmaceutical derived from Artemisia asiatica. It has been reported to possess anti-tumor activity in some types of cancer including gastric cancer. Eupatilin may modulate the angiogenesis pathway which is part of anti-inflammatory effect demonstrated in gastric mucosal injury models. Here we investigated the anti-tumor effects of eupatilin on gastric cancer cells and elucidated the potential underlying mechanism whereby eupatilin suppresses angiogenesis and tumor growth. MATERIALS AND METHODS: The impact of eupatilin on the expression of angiogenesis pathway proteins was assessed using western blots in MKN45 cells. Using a chromatin immunoprecipitation assay, we tested whether eupatilin affects the recruitment of signal transducer and activator of transcription 3 (STAT3), aryl hydrocarbon receptor nuclear translocator (ARNT) and hypoxia-inducible factor-1alpha (HIF-1alpha) to the human VEGF promoter. To investigate the effect of eupatilin on vasculogenesis, tube formation assays were conducted using human umbilical vein endothelial cells (HUVECs). The effect of eupatilin on tumor suppression in mouse xenografts was assessed. RESULTS: Eupatilin significantly reduced VEGF, ARNT and STAT3 expression prominently under hypoxic conditions. The recruitment of STAT3, ARNT and HIF-1alpha to the VEGF promoter was inhibited by eupatilin treatment. HUVECs produced much foreshortened and severely broken tubes with eupatilin treatment. In addition, eupatilin effectively reduced tumor growth in a mouse xenograft model. CONCLUSIONS: Our results indicate that eupatilin inhibits angiogenesis in gastric cancer cells by blocking STAT3 and VEGF expression, suggesting its therapeutic potential in the treatment of gastric cancer.
Animals ; Artemisia ; Aryl Hydrocarbon Receptor Nuclear Translocator ; Blotting, Western ; Chromatin Immunoprecipitation ; Flavones ; Flavonoids ; Human Umbilical Vein Endothelial Cells ; Humans ; Mice ; Proteins ; STAT3 Transcription Factor ; Stomach Neoplasms ; Transplantation, Heterologous ; Vascular Endothelial Growth Factor A

Esmolol is a cardioselective beta-blocker with a very rapid onset of action and a short half-life. Labetalol is a combined alpha- and beta-adrenoceptor blocking agent. It is a nonselective antagonist at beta-adrenoceptors and a competitive antagonist of postsynaptic alpha 1-adrenoceptors. A 51 year old female patient was transferred to the operating room for performing spinal fusion under general anesthesia. She had no operation and medication history. The initial heart rate was 150 beats/min. Despite administering several bolus injections of esmolol, the heart rate was not decreased to under 130 beats/min. But the heart rate was decreased to 100 beats/min after the administration of labetalol 5 mg and this rate was maintained without an additional injection. The vital signs were stable until the operation was finished and the patient recovered uneventfully in the recovery room. The postoperative laboratory findings revealed that she had hyperthyroidism. We report here on an anesthetic experience of effective labetalol treatment for esmolol-resistant tachycardia in a patient who was under general anesthesia.
Anesthesia, General ; Female ; Half-Life ; Heart Rate ; Humans ; Hyperthyroidism ; Labetalol ; Operating Rooms ; Propanolamines ; Recovery Room ; Spinal Fusion ; Tachycardia ; Vital Signs

OBJECTIVE: The purpose of this study is to evaluate the associations between 30-day mortality and various radiological and clinical factors in patients with traumatic acute subdural hematoma (SDH). During the 11-year study period, young patients who underwent surgery for SDH were followed for 30 days. Patients who died due to other medical comorbidities or other organ problems were not included in the study population. METHODS: From January 1, 2004 to December 31, 2014, 318 consecutive surgically-treated traumatic acute SDH patients were registered for the study. The Kaplan–Meier method was used to analyze 30-day survival rates. We also estimated the hazard ratios of various variables in order to identify the independent predictors of 30-day mortality. RESULTS: We observed a negative correlation between 30-day mortality and Glasgow coma scale score (per 1-point score increase) (hazard ratio [HR], 0.60; 95% confidence interval [CI], 0.52–0.70; p<0.001). In addition, use of antithrombotics (HR, 2.34; 95% CI, 1.27–4.33; p=0.008), history of diabetes mellitus (HR, 2.28; 95% CI, 1.20–4.32; p=0.015), and accompanying traumatic subarachnoid hemorrhage (hazard ratio, 2.13; 95% CI, 1.27–3.58; p=0.005) were positively associated with 30-day mortality. CONCLUSION: We found significant associations between short-term mortality after surgery for traumatic acute SDH and lower Glasgow Coma Scale scores, use of antithrombotics, history of diabetes mellitus, and accompanying traumatic subarachnoid hemorrhage at admission. We expect these findings to be helpful for selecting patients for surgical treatment of traumatic acute SDH, and for making accurate prognoses.
Brain Injuries ; Comorbidity ; Diabetes Mellitus ; Glasgow Coma Scale ; Hematoma, Subdural* ; Hematoma, Subdural, Acute ; Humans ; Methods ; Mortality* ; Prognosis ; Subarachnoid Hemorrhage, Traumatic ; Survival Rate

OBJECTIVES: Parkinson's disease is one of the most common neurodegenerative diseases in the elderly population. In order to estimate the prevalence of Parkinson's disease in the community, the application of a good screening tool is essential. We evaluated the validity and reliability of a Parkinson's disease screening questionnaire and propose an alternative measure to improve its validity for use in community surveys. METHODS: We designed the study in a three-phase approach consisting of a screening questionnaire, neurologic examination, and confirmatory examination. A repeated survey was administered to patients with disease detected in the community and on 150 subjects. We examined internal consistency using Cronbach's alpha test, test-retest reliability using the kappa statistic, and validity using sensitivity, specificity, and ROC curves. Unadjusted odds ratios were utilized for the estimation of weights for each questionnaire item. RESULTS: The Cronbach's alpha of the questionnaire was 0.708. The kappa statistic for test-retest reliability was good to generally fair in most of the items. When newly proposed weighting scores were used, the optimum cut-off value was 7/8. When cut-off value was 5/6 for surveying prevalence in a community, the sensitivity was 0.98, and the specificity was 0.61, with simultaneous improvement in reliability. CONCLUSIONS: We recommend 5/6 as the ideal cut-off value for the survey of PD prevalence in community. This questionnaire designed for the Korean community could help future epidemiologic studies of PD.

BACKGROUND: Varenicline is now very useful medication for cessation; however, there is only little result of researches with varenicline for cessation of hospitalized patients. This research attempted to analyze the cessation effect of medication and compliance of hospitalized patients. METHODS: This research included data for 52 patients who were prescribed varenicline among 280 patients who were consulted for cessation during their admission period. This research checked whether smoking was stopped or not after six months and analyzed their compliance, the factors for succeeding in smoking cessation. RESULTS: One hundred and ninety hospitalized patients participated in smoking cessation counseling among 280 patients who included consultation from their admission departments. And varenicline was prescribed for only 80 patients after counseling. Nineteen smokers were successful in smoking cessation among 52 final participants representing the rating of success of 36.5%. The linkage between compliance of varenicline and rate of smoking successful has no statistical significance. The factors for succeeding in smoking of hospitalized patients are admission departments, diseases, and economic states. CONCLUSION: Smoking cessation program has low inpatient compliance. Cooperation of each departments is very important for better compliance. Success rate of cessation was relatively high (36.5%). Cessation attempt during hospitalization is very effective strategy.
Compliance* ; Counseling ; Hospitalization ; Humans ; Inpatients ; Smoke* ; Smoking Cessation* ; Smoking* ; Varenicline