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

PURPOSE: To assess efficacy of the Pentacam (PTC) and the anterior segment optical coherence tomography (AOCT) for detection of occludable angles. MATERIALS AND METHODS: Fourty-one eyes with gonioscopically diagnosed occludable angles and 32 normal open-angle eyes were included. Anterior chamber angle (ACA) and anterior chamber depth (ACD) were measured with PTC and AOCT. Receiver operating characteristic (ROC) curve was constructed for each parameter and the area under the ROC curve (AUC) was calculated. RESULTS: Values of ACA and ACD measured by PTC and AOCT were similar not only in normal open angle eyes but also in occludable angle eyes. For detection of occludable angle, the AUCs of PTC with ACA and ACD were 0.935 and 0.969, respectively. The AUCs of AOCT with ACA and ACD were 0.904 and 0.947, respectively. CONCLUSION: Both PTC and AOCT allow accurate discrimination between open and occludable angle eyes, so that they may aid to screening the occludable angles.
Aged ; Aged, 80 and over ; Anterior Chamber/*anatomy & histology ; Humans ; Middle Aged ; Tomography, Optical Coherence/*methods

There is no consensus for the surgical indications, as well as the surgical technique, for the treatment of inferior vena cava (IVC) invasion by pancreas head cancer. The authors experienced a case of pancreas head cancer invading the anterior wall of the IVC. We performed en bloc excision of the anterior wall of the IVC combined with pancreatoduodenectomy in this case under the assumption that only a margin-negative surgical resection could offer a chance for cure. Technically, the sequence of dissection and addressing the IVC at the end of dissection are considered to be important to secure the operative field surrounding the IVC and to achieve a margin-negative resection. There has been no recurrence up to now, 8 months after the extensive radical operation.
Consensus ; Head and Neck Neoplasms ; Pancreas ; Pancreatic Neoplasms ; Pancreaticoduodenectomy ; Recurrence ; Vena Cava, Inferior

There is no consensus for the surgical indications, as well as the surgical technique, for the treatment of inferior vena cava (IVC) invasion by pancreas head cancer. The authors experienced a case of pancreas head cancer invading the anterior wall of the IVC. We performed en bloc excision of the anterior wall of the IVC combined with pancreatoduodenectomy in this case under the assumption that only a margin-negative surgical resection could offer a chance for cure. Technically, the sequence of dissection and addressing the IVC at the end of dissection are considered to be important to secure the operative field surrounding the IVC and to achieve a margin-negative resection. There has been no recurrence up to now, 8 months after the extensive radical operation.
Consensus ; Head and Neck Neoplasms ; Pancreas ; Pancreatic Neoplasms ; Pancreaticoduodenectomy ; Recurrence ; Vena Cava, Inferior

PURPOSE: Up to now, there are several controversies in many aspects of osteochondritis dissecans. In this paper, we have intended to evaluate the frequent location and the etiology of the osteochondritis dis-secans of the femoral condyles, and to assess the adequate modality of operative treatment and its results according to the modality. MATERIALS AND METHODS: We reviewed retrospectively forty-four knees in forty patients. We analysed their clinical and radiological finding to take the incidence at both condyles and its etiology and to estab-lish the modality of applied operative methods according to the status of the lesion. The performed operative methods were multiple drilling(1 case), fragment fixation(2 cases), curettage & multiple drilling(36 cases), osteochondral autotransplantation(5 cases). The majority of these operation was proceeded under arthroscopy. Its clinical results were assessed by Aichroth's result grading system after an average follow-up of two-years and eleven months(range, one year and two months to six years and one month). RESULTS: Twenty one cases were medial femoral condylar lesions, and 23 cases were lateral. 91% patients had had the history of the definitive trauma(20 cases) or the minor repetitive trauma in their envi-ronments(20 cases). After operative treatment, seven knees had an excellent result; twenty-nine, a good result; six, a moderate result; and two, a poor result. Satisfactory result was 82%. CONCLUSIONS: On the basis of this review, we suggest that there is no difference in incidence between both femoral condyles, and that the trauma is seemed to play a major role as an etiologic factor. Majority of operated patients showed satisfactory results after application of our treatment modality.
Adult* ; Arthroscopy ; Curettage ; Follow-Up Studies ; Humans ; Incidence ; Knee ; Osteochondritis Dissecans* ; Osteochondritis* ; Retrospective Studies

PURPOSE: To maintain high quality cardiopulmonary resuscitation (CPR), optimal alternating rescuers is important. Stronger and faster chest compression has recently been emphasized in the 2010 guidelines. Therefore, this study compared and evaluated changes in the quality of chest compression in a 2-min scenario group and a 1-min scenario group. METHODS: Among the 88 participants, two-rescuer pairs were randomly allocated. After the training and a one-day break, participants were asked to perform continuous chest compressions for 2 min on a manikin and to take a one-day break, followed by continuous chest compression for 1 min. In all simulated CPRs, the total number of chest compressions and those with appropriate depth were counted. Chest compression quality index was calculated as the proportion of chest compressions with appropriate depth. RESULTS: The mean overall chest compression depth was lower in the 2-min scenario group, compared with the 1-min scenario group. In particular, compression rate (p=0.110), abnormal hand position (p=0.181), and chest recoil (p=0.892) showed no significant difference between the two groups. However, the quality index, mean depth (p=0.018) and too shallow compression depth (p=0.020) 1-min scenario was better than that of the 2-min scenario group. The difference in the CPR quality index reached statistical significance. CONCLUSION: Switching compressors at an interval of 2 min is reasonable for performance of CPR by a lay-bystander. However, alternating rescuers every 1 min may be an alternative method during continuous chest compression.
Cardiopulmonary Resuscitation ; Fatigue ; Hand ; Manikins ; Thorax

Ionizing radiation has long been used in medicine since the discovery of X-rays. Diagnostic imaging using synchrotron radiation has been under investigation since Rubenstein et al. reported dual-energy iodine-K-edge subtraction coronary angiography. Recently, computed tomography (CT) and magnetic resonance imaging (MRI) have provided better quality results than conventional radiology, providing important information on human internal structures. However, such techniques are unable to detect fine micron sized structures for the early diagnosis of tumors, vascular diseases and other medical objectives. Third generation synchrotron X-rays are well known for their superiority in coherence and energy tunability with respect to conventional X-rays. Consequently, new contrast mechanisms with a superior spatial resolution are becoming available. Here we present the extremely fine details of live animal internal structures using unmonochromatized synchrotron X-rays (white beam) and a simple detector system. Natural movements of the internal organs are also shown. The results indicate that this imaging technique can be applied to investigating microstructures and evaluating the function of the internal organs. Furthermore, this imaging system may be applied to humans as the next tool beyond CT and MRI.
Animal ; *Diagnostic Imaging ; Male ; Mice ; Mice, Inbred HRS ; *Synchrotrons

PURPOSE: This study aims to access the usefulness of indirect computed tomographic venography (CTV) after performing computed tomographic pulmonary angiography (CTPA) to detect deep venous thrombosis. METHODS: Eighty six patients who were diagnosed with deep venous thrombosis (DVT) were retrospectively enrolled in this study. All the patients had CTPA & CTV performed within 24 hours after Doppler ultrasound (US). The CTV was compared with Doppler US for their ability to diagnose DVT. Pulmonary embolism (PE) and other findings that were detected by CTPA & CTV were analyzed. RESULTS: Among 86 patients, 83 had thrombi detected by Doppler US. CTV did not detect DVT in 11 of the 83 patients. Among the 11 patients, 8 had below the knee thrombosis, which was not in the scan area of CTV. In 2 patients, their Doppler US results could not be guaranteed. One case was a false positive result on Doppler US. The results for determining the thrombi level between Doppler US and CTV were roughly concordant. In addition to DVT or PE, 32 new lesions in 27 patients were incidentally detected by CTPA & CTV. CONCLUSION: Compared with Doppler US, CTPA & CTV are not inferior to detect DVT of the lower extremities and these modalities can also provide information about incidental disease, as well as pulmonary embolism.
Angiography ; Benzoates ; Heterocyclic Compounds ; Humans ; Knee ; Lower Extremity ; Phlebography ; Pulmonary Embolism ; Retrospective Studies ; Thrombosis ; Tomography, X-Ray Computed ; Ultrasonics ; Venous Thrombosis

Positive identification of human body remains is one of the most important tasks in mass disaster management. In general, anthropometric studies of long bones help to take informations such as race, gender, age, and stature of an individual. The previous reports estimated the stature from the femur length or from its fragments. One hundred ninety five (male 120, female 75) human bodies were examined. We measured 11 items which related breadth and length of femur. The highest correlation coefficients showed in the distance from most proximal point of intercondylar fossa to midpoint of lesser trochanter (IFLM) and distance from most proximal point of intercondylar fossa to most proximal point of greater trochanter (IFGP). The regression formulae were obtained from the various measurement of the fragmentary femur. With known values, the expected maximum femoral length was as follows. When using IFLM, maximum femoral length (male) = 21.788+/-1.278*IFLM+/-9.714 maximum femoral length (female) = 33.892+/-1.224*IFLM+/-11.311 maximum femoral length (combined) = 10.201+/-1.310*IFLM+/-6.746 When using IFGP, maximum femoral length (male) = 1.162*IFGP-8.770+/-8.882 maximum femoral length (female) = 1.117*IFGP+/-7.265+/-13.604 maximum femoral length (combined) = 1.149*IFGP-3.860+/-5.827 Consequently, these formulae are useful to persume the maximal length of femur for the unidentified fragments of femur in Korean.
Continental Population Groups ; Disasters ; Female ; Femur* ; Human Body ; Humans