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

OBJECTIVES: Recently, it was reported that microsurgical fenestration of the lamina terminalis (LT) may reduce the incidence of shunt-dependent hydrocephalus in aneurysmal SAH. The authors investigated the efficacy of the LT opening on the incidence of shunt-dependent hydrocephalus especially in the ruptured anterior communicating artery (ACoA) aneurysms. METHODS: The data of 71 ruptured ACoA aneurysm patients who underwent aneurysmal clipping in acute stage were reviewed retrospectively. The patients were divided into two groups according to the use of intraoperative microsurgical opening of the LT. Group I (n=36) included the patients with microsurgical fenestration of LT during routine pterional approach, Group II (n=35) consisted of patients in whom microsurgical fenestration of LT was not feasible. The rate of shunt-dependent hydrocephalus was compared between two groups by logistic regression to control for confounding factor. RESULTS: Ventriculo-peritoneal shunts were performed after aneurysmal obliteration in 18 (25.4%) patients. Overall conversion rates from acute hydrocephalus on admission to chronic hydrocephalus in each group were 29.6% (Group I) and 58.8% (Group II), respectively. There was no significant correlation between the microsurgical fenestration and the rate of occurrence of shunt-dependent hydrocephalus (p>0.05). CONCLUSION: Although this study cannot provide a definitive answer, the microsurgical fenestration of LT can play a negative role for reducing the incidence of chronic hydrocephalus. Surgeons should carefully decide the concomitant use of LT fenestration during surgery for the ruptured ACoA aneurysms.
Aneurysm ; Arteries ; Humans ; Hydrocephalus* ; Hypothalamus* ; Incidence ; Intracranial Aneurysm* ; Logistic Models ; Retrospective Studies ; Subarachnoid Hemorrhage* ; Ventriculoperitoneal Shunt

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

Luteolin, a widespread flavonoid, has been known to have neuroprotective activity against various neurologic diseases such as epilepsy, and Alzheimer’s disease. However, little information is available regarding the hypnotic effect of luteolin. In this study, we evaluated the hypnotic effect of luteolin and its underlying mechanism. In pentobarbital-induced sleeping mice model, luteolin (1, and 3 mg/kg, p.o.) decreased sleep latency and increased the total sleep time. Through electroencephalogram (EEG) and electromyogram (EMG) recording, we demonstrated that luteolin increased non-rapid eye movement (NREM) sleep time and decreased wake time. To evaluate the underlying mechanism, we examined the effects of various pharmacological antagonists on the hypnotic effect of luteolin. The hypnotic effect of 3 mg/kg of luteolin was not affected by flumazenil, a GABAA receptor-benzodiazepine (GABAAR-BDZ) binding site antagonist, and bicuculine, a GABAAR-GABA binding site antagonist. On the other hand, the hypnotic effect of 3 mg/kg of luteolin was almost completely blocked by caffeine, an antagonist for both adenosine A1 and A2A receptor (A1R and A2AR), 8-Cyclopentyl-1,3-dipropylxanthine (DPCPX), an A1R antagonist, and SCH-58261, an A2AR antagonist. From the binding affinity assay, we have found that luteolin significantly binds to not only A1R but also A2AR with IC₅₀ of 1.19, 0.84 μg/kg, respectively. However, luteolin did not bind to either BDZ-receptor or GABAAR. From these results, it has been suggested that luteolin has hypnotic efficacy through A1R and A2AR binding.
Adenosine ; Animals ; Binding Sites ; Caffeine ; Electroencephalography ; Epilepsy ; Eye Movements ; Flumazenil ; Hand ; Hypnotics and Sedatives ; Luteolin ; Mice ; Receptor, Adenosine A1 ; Receptor, Adenosine A2A ; Sleep Initiation and Maintenance Disorders

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: We studied the hemodynamic changes induced by pneumoperitoneum and a reversed Trendelenburg in elderly patients with increased cardiac risk (ASA class III; n = 30; age 70.8 +/- 4.9 years, mean +/- SD) and compared the results with elderly patients at normal risk (ASA class II; n = 30; age 69.2 +/- 4.1 years) during laparoscopic cholecystectomy. METHODS: The transesophageal Doppler monitor was performed after induction of general anesthesia (pre-incision), after onset of pneumoperitoneum (insufflation), after head-up (20degrees) and a left lateral tilt (15degrees) (reversed Trendelenburg) and after deflation and horizontal position (desufflation). Mean arterial pressure (MAP), heart rate, cardiac index (CI) and systemic vascular resistance (SVR) were measured, respectively. RESULTS: Induction of pneumoperitoneum and head-up tilt in patients with cardiac risk resulted significantly in a decrease in CI and an increase in SVR compared with patients with normal risk (P < 0.05), and that remained until deflation, but no interval changes in MAP and heart rate. The CI, MAP and heart rate decreased and SVR increased significantly in patients with cardiac risk compared with patients with normal risk before incision (P < 0.05). No complications occurred. The results indicate that pneumoperitoneum and a reversed Trendelenburg are associated with significant but relatively benign hemodynamic changes. CONCLUSIONS: Anesthesia for laparoscopic cholecystectomy in elderly patients with increased cardiac risk should be performed with an adequate hemodynamic monitoring.
Aged ; Anesthesia ; Anesthesia, General ; Arterial Pressure ; Cholecystectomy, Laparoscopic ; Heart Diseases ; Heart Rate ; Hemodynamics ; Humans ; Organothiophosphorus Compounds ; Pneumoperitoneum ; Vascular Resistance

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

OBJECTIVE: The authors report a retrospective analysis of the clinical effect of dorsal root entry zone (DREZ) lesioning for neuropathic intractable pain. METHODS: Fourteen patients who underwent dorsal root entry zone lesioning for various types of pain between September 1995 and August 2001 were evaluated retrospectively. Eleven male and three female patients whose ages ranging from 35 to 70 were studied. According to causes of intractable pain, patients were divided into paraplegic pain(7 patients), peripheral nerve injury pain(3), cancer pain(3), phantom limb pain(1) and root avulsion pain(1). Other preoperative pain managements showed no benificial effects. The changes in painful symtoms were closely observed during follow up period. The mean follow period after operation was 32.4 months. RESULTS: Postoperatively, the decrease in level of pain was classified into four groups : excellent, good, fair, poor. Excellent represented no pain without medication : Good, pain tolerable with non-opiate medicine ; Fair, pain tolerable with opiate medicine ; Poor, pain sustained. After operation, three patients were in excellent group, eight in good, one in fair, and two in poor. Twelve patients were in medically tolerable pain group accounting for 85.7%. There were no serious operation releated side effects. CONCLUSION: DREZ lesioning, in our series, provided substantial pain relief and this may be considered an option in management of these types of intractable neuropathic pain.
Female ; Follow-Up Studies ; Humans ; Male ; Neuralgia ; Pain Management ; Pain, Intractable* ; Peripheral Nerve Injuries ; Phantom Limb ; Retrospective Studies ; Spinal Nerve Roots*