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: 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

Primary distal renal tubular acidosis (dRTA) caused by mutations of the SLC4A1 gene, which encodes for erythroid and kidney isoforms of anion exchanger, shows marked difference in inheritance patterns and clinical features in different parts of the world. While the disease shows autosomal dominant inheritance without any red cell morphological abnormalities in the temperate countries, it is almost invariably recessive, and often accompanies red cell morphological abnormalities or hemolytic anemia in the tropics, especially in Southeast Asia. Here, we report three patients with autosomal recessive (AR) dRTA, presenting with typical findings of failure to thrive and rickets, from two unrelated Lao families. The mutational analyses revealed that all three patients harbored the same homozygous SLC4A1 mutation, p.Gly701Asp. Adequate supplementation of alkali and potassium resulted in remarkable improvement of growth retardation and skeletal deformities of the patients. This is the first case report of Lao patients with AR dRTA caused by SLC4A1 mutations.
Acidosis, Renal Tubular* ; Alkalies ; Anemia, Hemolytic ; Asia, Southeastern ; Congenital Abnormalities ; Failure to Thrive ; Humans ; Inheritance Patterns ; Kidney ; Laos ; Potassium ; Protein Isoforms ; Rickets ; Wills

BACKGROUND: It is very important to determine an accurate staging of the non-small cell lung cancer(NSCLC) for an assessment of operability and it's prognosis. However, it is difficult to evaluate tumor involvement of mediastinal lymph nodes accurately utilizing noninvasive imaging modalities. PET is one of the sensitive and specific imaging modality. Unfortunately PET is limited use because of prohibitive cost involved with it's operation. Recently hybrid SPECT/PET (single photon emission computed tomography/positron emission tomography) camera based PET imaging was introduced with relatively low cost. We evaluated the usefulness of coincidence detection (CoDe) PET in the detection of metastasis to the mediastinal lymph nodes in patients with NSCLC. METHODS: Twenty one patients with NSCLC were evaluated by CT or MRI and they were considered operable. CoDe PET was performed in all 21 patients prior to surgery. Tomographic slices of axial, coronal and sagittal planes were visually analysed. At surgery, mediastinal lymph nodes were removed and histological diagnosis was performed. CoDe PET findings were correlated with histological findings. RESULTS: Twenty of 21 primary tumor masses were detected by the CoDe PET. Thirteen of 21 patients was correctly diagnosed mediastinal lymph node metastasis by the CoDe PET. Pathological NO was 14 cases and the specificity of NO of CoDe PET was 64.3%. Sensitivity, specificity, positive predictive value, negative predictive value and accuracy of N1 node was 83.3%, 73.3%, 55.6%, 91.7%, and 76.2% respectively. Sensitivity, specificity, positive predictive value, negative predictive value and accuracy of N2 node was 60.0%, 87.5%, 60.0%, 87.5%, and 90.0% respectively. There were 3 false negative cases but the size of the 3 nodes were less than 1cm. The size of true positive nodes were 1.1cm, 1.0cm, 0.5cm respectively. There were 1 false positive among the 12 lymph nodes which were larger than 1cm. False positive cases consisted of 1 tuberculosis case, 1 pneumoconiosis case and 1 anthracosis case. CONCLUSION: CoDe PET has relatively high negative predictive value in the enlarged lymph node in staging of mediastinal nodes in patients with NSCLC. Therefore CoDe PET is useful in ruling out metastasis of enlarged N3 nodes. However, further study is needed including more number of patients in the future.
Anthracosis ; Carcinoma, Non-Small-Cell Lung* ; Diagnosis ; Electrons* ; Humans ; Lung ; Lymph Nodes ; Magnetic Resonance Imaging ; Neoplasm Metastasis ; Pneumoconiosis ; Positron-Emission Tomography* ; Prognosis ; Tuberculosis

BACKGROUND: The autopsy is a special surgical operation on a dead body to discover its cause of death. The autopsy is necessary for forensic uses, and it is also of great importance for educating students regarding medical uncertainty. METHODS: To evaluate medical studentsO attitudes toward autopsy and the effect of their attitudes following a forensic pathology course, a questionnaire with 25 items that addressed the usefulness of autopsies and discomfort reactions was used. One hundred eighty nine medical students from 3 medical schools in Daegu participated in this study. RESULTS: The medical students showed a high perception of an autopsy's principles, but the medical students were reluctant to become personally involved, despite being more aware of the necessities of the autopsy in forensic cases. Acceptance for the necessities of the autopsy for medical students who took the forensic pathology course was increased, but most of discomfort reactions were not improved. CONCLUSIONS: One way to fulfill the role of forensic pathology as an inspector for human rights and to retain the very special source of knowledge that autopsies represent would be to provide medical education that lead to reconciliation of the discomfort feelings.
Autopsy* ; Cause of Death ; Daegu ; Education, Medical ; Forensic Medicine ; Forensic Pathology* ; Human Rights ; Humans ; Surveys and Questionnaires ; Schools, Medical ; Students, Medical ; Uncertainty

PURPOSE: The aim of this study was to evaluate the safety and feasibility of D2 lymphadenectomy in elderly patients with gastric cancerby comparing the surgical outcomes and postoperative courses between an elderly group and a control group undergoing the same procedure. MATERIALS AND METHODS: Clinical information was reviewed for 1251 patients with gastric cancer who underwent gastrectomy between May 2004 and May 2007. Patients were classified into the following two groups: an elderly group (older than the average life span in Korea) and a control group (younger than the elderly group). Clinicopathologic features and postoperative courses after D2 lymphadenectomy were reviewed and compared between the two groups. RESULTS: There were a total of 120 (9%) elderly group patients among all those reviewed, and 86 (72.2%) of them underwent D2 lymphadenectomy. There was 27.5% postoperative morbidity in the elderly group, which was significantly different from thecontrol group (12.8%, p=0.003). However, on multivariate analysis, ASA score and combined resection were independent predictive factors of postoperative complications, while age was not predictive. CONCLUSION: Older age is not a predictive factor of postoperative complications in itself, and D2 lymphadenectomy can be safely performed in elderly patients with gastric cancer, provided they have good ASA scores and do not undergo accompanying combined resection.
Aged ; Gastrectomy ; Humans ; Lymph Node Excision ; Multivariate Analysis ; Postoperative Complications ; Stomach Neoplasms

Most bronchogenic cysts originate in the mediastinum, while 15% to 20% occur in the lung parenchyma. According to the literature, most intrapulmonary cysts occur in the lower lobes. But, they are rarely located in an extrathoracic site, such as subdiaphragmatic retroperitoneal area. We describe a paraesophageal intra-abdominal bronchogenic cyst, first considered as gastric submucosal tumor. Resection was successfully realized by laparoscopy. A 20-year-old female was admitted to our hospital with incidentally detected gastric submucosal tumor. At operation, there was a 2.5x2 cm sized cystic tumor that was isolated from the gastric wall. We performed tumor resection laparoscopically. The postoperative course was uneventful and the patient was discharged on the second postoperative day. Histological examination reported a bronchogenic cyst. We, herein, report this case.
Bronchogenic Cyst ; Female ; Humans ; Laparoscopy ; Lung ; Mediastinum ; Young Adult

PURPOSE: The usefulness of serum tumor markers for assessing gastric carcinoma is very limited compared to that for neoplasms in other digestive organs. Many reports have shown that serum tumor markers are closely associated with the prognosis and tumor recurrence in gastric cancer patients. However, little is known about the usefulness of serum tumor markers as a predictor of distant metastasis for gastric carcinoma. MATERIALS AND METHODS: With excluding the non-specific causes of elevated tumor markers, a total of 788 patients with gastric carcinoma and who were seen at our hospitals between 2004 and 2006 were included in this study. The correlation between the preoperative level of tumor makers and the clinicopathological features was analyzed. RESULTS: CEA was significantly correlated with age, gender and nodal metastasis, but not with the depth of tumor. The CEA level was not correlated with distant metastasis, such as peritoneal or hematogenous metastasis. In contrast, the CA 19-9 level was significantly correlated not only with the depth of tumor and nodal metastasis, but also with peritoneal metastasis. Especially, the patients with over 500% elevation of the CA 19-9 level had a significant risk of peritoneal metastasis. CONCLUSION: CA 19-9 is useful for predicting peritoneal metastasis in gastric cancer patients. It can be used efficiently in making the diagnostic and the treatment plan, in combination with other diagnostic tools, for gastric cancer patients.
Humans ; Neoplasm Metastasis ; Prognosis ; Recurrence ; Stomach Neoplasms ; Biomarkers, Tumor