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

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

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.

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: 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

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*

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

BACKGROUND: Despite the use of antibiotics and cardiac surgery, infective endocarditis, remains a life-threatening disease. Unfortunately, diagnosis and treatment may be delayed. This is due, in part, to the vague and, at times, baffling clinical picture of this disease and to the frequency with which antibiotics were administered prior to obtaining a microbiological diagnosis. We conducted this study to improve the suspicion index from difficult diagnostic process of this serious disease. METHODS: We retrospectively reviewed the medical records of 39 patients admitted to the Gangneung Asan Hospital in Gangwon-do with infective endocarditis from December 1996 to July 2004. We evaluated initial chief complaints and presumed diagnosis on first visit to medical care facilities, duration of referral from primary care to our hospital, the time period to confirm the diagnosis, treatment modality, and survival rate. RESULTS: Among the total, 23 out of 39 patients fulfilled the criteria for definite infective endocarditis, whereas the others (16 patients) were for possible group in Duke criteria. In 79.5%, infective endocarditis was the first clinical presentation without medical history of any cardiac disease. Most frequent initial presenting symptoms and signs were fever and chills (56.4%), abnormal neurologic deficit (12.8%), and myalgia (7.6%). The most common initial diagnosis at first medical facilities was common cold. The mean duration of referral from primary care to our hospital was 9.5 days. The mean duration of symptoms before the definite diagnosis was 20.3 days. The most frequent etiologic microorganisms were streptococcus and staphylococcus. Blood culture negative infective endocarditis was found in 35.9% of cases. Almost all patients were treated with 3rd generation cephalosporins. Among the total, 71.6% patients were treated with medical treatment only, and 28.2% patients required surgical intervention. The mortality rate was 20.5% with the major cause of death being sepsis. CONCLUSION: Since the symptoms and signs of infective endocarditis are nonspecific, it is difficult to suspect and reach to correct diagnosis of infective endocarditis in primary care, requiring prolonged duration of 3 weeks to reach diagnosis. The consequences can result in higher rate of systemic complications and mortality.
Anti-Bacterial Agents ; Cause of Death ; Cephalosporins ; Chills ; Common Cold ; Endocarditis ; Fever ; Heart Diseases ; Humans ; Medical Records ; Neurologic Manifestations ; Primary Health Care ; Referral and Consultation ; Retrospective Studies ; Staphylococcus ; Streptococcus ; Thoracic Surgery