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

The efficacy of the fine needle aspiration biopsy and cytological examination (FNABC) under ultrasonographic (US) guides for the diagnosis of cervical tuberculous lymphadenitis was assessed. In one hundred and one patients with a neck mass or masses, tuberculous lymphadenitis has been proved by FNABC. US disclosed the physical characteristics of the masses: All the cases that involved two or more lymph nodes were multiple lesions. Eighty lesions (79.1%) were multiregional, and in 19 cases (18.8%), bilateral neck was involved. The posterior triangle of the neck was the most prevalent site (N = 69, 68.3%). Ninety two cases (90.9%) were hypoechoic lesions and 9 (9.1%) showed mixed echo patterns. There was no hyperechoic lesion (p< 0.001). The sensitivity of FNABC was 77.2% and the specificity was 99.0%. The diagnostic accuracy was 85.0%. There was no complication during the procedure. FNABC for the diagnosis of cervical tuberculous lymphadenitis is a safe, convenient procedure and has a relatively high specificity. The limitation of FNABC, the low sensitivity, seemed to be compensated by US examinations.
Biopsy, Needle/*methods ; Human ; Neck ; Tuberculosis, Lymph Node/*pathology/*ultrasonography

In published article by Li et al., an author's name was misspelled.

BACKGROUND: The macrofollicular variant of papillary thyroid carcinoma (MVPC) is characterized by macrofollicles occupying more than half of the tumor and demonstrating nuclear features of classic papillary carcinoma. It is difficult to recognize on fine needle aspiration (FNA) cytology due to the paucity of aspirated neoplastic cell clusters, especially when the tumor is associated with extensive areas of hemorrhage. CASE: A 34-year-old female presented with a well-demarcated nodule in the thyroid gland, diagnosed as a benign nodule on ultrasonography and computed tomography. FNA cytology smear revealed a few small aggregates of follicular cells with morphological features suspicious for papillary carcinoma, set in a background of hemorrhage, inflammatory cells, and hemosiderin-laden macrophages. Intraoperative frozen section revealed macrofollicular nests filled with hemorrhage and composed of follicular cells demonstrating nuclear clearing and grooves. CONCLUSION: MVPC is a rare but distinctive variant of papillary carcinoma, which is easily mistaken for adenomatous goiter or benign macrofollicular neoplasm on radiologic findings. The cytopathologist should alert oneself on encountering benign radiologic findings and any smear composed of scant numbers of follicular cells with nuclear features suspicious for papillary carcinoma despite the bland-looking background of hemorrhage and hemosiderin-laden macrophages, and recommend intraoperative frozen sections for a definite diagnosis.
Adult ; Biopsy, Fine-Needle ; Carcinoma, Papillary ; Diagnosis ; Female ; Frozen Sections ; Goiter ; Hemorrhage* ; Humans ; Macrophages ; Thyroid Gland* ; Thyroid Neoplasms* ; Ultrasonography

The coexistence of polymyositis and primary biliary cirrhosis is rare. Both are characterized by chronic inflammation and immunological abnormalities. We report a case of 54-year-old female patient presenting with these two autoimmune diseases. She exhibited symmetrical proximal muscle weakness and elevated serum levels of muscle enzymes. Polymyositis was confirmed by electromyography and muscle biopsy. The diagnosis of primary biliary cirrhosis was based on increased serum levels of alkaline phosphatase, IgM immunoglobulin, presence of antimitochodrial antibody and characteristic liver biopy findings. This is the first case who manifest polymyositis and primary biliary cirrhosis simultaneously in Korea.
Alkaline Phosphatase ; Autoimmune Diseases ; Biopsy ; Diagnosis ; Electromyography ; Female ; Humans ; Immunoglobulin M ; Immunoglobulins ; Inflammation ; Korea ; Liver ; Liver Cirrhosis, Biliary* ; Middle Aged ; Muscle Weakness ; Polymyositis*

PURPOSE: This study was aimed to compare the margin and internal fitness of single anterior all-ceramic crown zirconia core made by three deferent CAD/CAM systems. MATERIAL AND METHODS: Five single zirconia cores were manufactured by three deferent CAD/CAM systems(Cerasys(R)system, KaVo Everest(R)system, Lava(TM) system). The manufactured zirconia cores were duplicated through the use of replica technique, and a replicated sample was sectioned in the center of bucolingual and mesiodistal direction to measure the marginal and internal gap. Measurement was carried out by using measuring microscope (AXIO(R)) and I-Solution(R) and analysed through the use of ANOVA. RESULTS: As for the mean marginal fitness of the zirconia core, it was 84.74 +/- 27.57 micrometer, in Cerasys(R), 80.23 +/- 21.07 micrometer in KaVo Everest(R) and 96.37 +/- 11.45 micrometer in Lava(TM), and as for the mean internal gap, it was 94.11 +/- 30.07 micrometer in Cerasys(R), 92.31 +/- 25.18 micrometer in KaVo Everest(R), and 94.99 +/- 18.74 micrometer in Lava(TM). There was no significant statistically deference among the total average gap of three systems. The internal gap in KaVo Everest(R) seemed to be smaller than Lava(TM) (P < .05). The internal gap in the incisal area was larger in all of the three systems. CONCLUSION: There was no difference in marginal fitness in Cerasys(R), KaVo Everest(R) and Lava(TM). As for the internal fitness, it was smaller in KaVo Everest(R) system than Lava(TM)system. In all of the three systems, there was a larger gap in incisal area. The marginal and internal gap was within the clinically allowed range in all of the three systems.
Crowns ; Replica Techniques ; Zirconium

OBJECTIVE: We wanted to describe the characteristic ultrasonography (US) features and clinical findings for making the diagnosis of subacute granulomatous thyroiditis. MATERIALS AND METHODS: A total of 31 lesions from 27 patients were confirmed as subacute granulomatous thyroiditis by US-guided fine needle aspiration biopsy. We analyzed the ultrasonographic findings such as the lesion's size, margin and shape, the discrepancy between length and breadth and the vascularity. The clinical findings such as acute neck pain or fever were reviewed. The follow-up clinical and ultrasonographic data were reviewed for 15 patients. RESULTS: The thyroid gland was found to be enlarged in five patients, it was normal size in 20 patients and it was smaller in two patients. All the lesions had focally ill-defined hypoechogenicity. Hypervascularity was not noted in any of the lesions. Painful neck swelling was present in 18 patients. An accompanying fever was documented in nine of the 18 patients. Twelve patients showed disappearance (n = 3) or a decreased size (n = 9) of their lesions on follow-up US. CONCLUSION: The presence of ill-defined hypoechoic thyroid lesions without a discrete round or oval shape is characteristic for subacute granulomatous thyroiditis, and particularly when this is associated with painful neck swelling and/or fever.
Ultrasonography, Interventional ; Thyroiditis, Subacute/pathology/*ultrasonography ; Middle Aged ; Male ; Humans ; Granuloma/pathology/*ultrasonography ; Female ; Biopsy, Fine-Needle ; Aged ; Adult

Anti-Bacterial Agents ; Bone Marrow ; Drug Delivery Systems ; Inflammation ; Ischemia ; Mandible ; Necrosis ; Osteomyelitis ; Oxygen ; Plasma ; Polymethyl Methacrylate