Hemophilia A is a bleeding disorder resulting from a congenital deficiency of factor VIII. The mainstay of successful hemophilia therapy for either treatment or prevention of acute hemorrage is prompt and sufficient intravenous replacement of factor VIII to hemostatic levels. One of the most serious complications of hemophilia and its therapy is the development of polyclonal antibodies to factor VIII that neutralize factor coagulant activity. APCCs is otherwise known as bypass therapy, products that bypass the requirement for factor VIII for clot formation and moderately effective in controlling bleeding in high inhibitor patients. We experienced a case of hemophilia A with high inhibitor titer in a 13 year-old boy who presented with incarcerated right inguinal hernia and a successful therapeutic effect of APCCs(Autoplex) for controlling post-operative hemorrhages.
Adolescent ; Antibodies ; Factor VIII ; Hemophilia A* ; Hemorrhage ; Hernia, Inguinal ; Humans ; Male

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

No abstract available.
Endometriosis* ; Female

Glassy cell carcinoma (GCC) of the uterine cervix is a rare and highly malignant tumor, accounting for only 1%~2% of all cervical carcinomas. It is typically composed of malignant cells having a moderate amount of cytoplasm with "ground glass" appearance, distinct cell membranes that stain with eosin or periodic acid-Schiff, and large nuclei with prominent nucleoli. Since its original description in 1956 by Glucletmann and Cherry, 200 - 250 cases of GCC of the uterine cervix have been listed in the literature. We report here the clinicopathological study of one case of glassy cell carcinoma with brief review of the literature.
Cell Membrane ; Cervix Uteri* ; Cytoplasm ; Eosine Yellowish-(YS) ; Female ; Prunus

The term endometriosis refers to ectopic endometriume. It most often involves the pelvic organs, including ovaries, broad and round ligaments, fallopian tubes, cervix, vagina and the pouch of Douglas. We report a case of vesical endometriosis in a 4- year old female patient and review literature. Segmental resection of this mass with involved bladder resulted in cure and this lesion was confirmed histologically as endometriosis of the bladder.
Cervix Uteri ; Endometriosis* ; Endometrium ; Fallopian Tubes ; Female ; Humans ; Ovary ; Round Ligament of Uterus ; Urinary Bladder ; Vagina

A clinical observation was undertaken on 7 cases of epididymal tuberculosis mimicking the symptoms and signs of acute epididymitis and 24 cases of all tuberculous epididymitis which were seen during the period from September 1983 to July 1987. The results obtained were as follows. 1. A total of 7 cases of epididymal tuberculosis mimicking the symptoms and signs of acute epididymitis corresponds to 29% of epididymal tuberculosis(24 cases). 2. The highest occurrence was observed in the age of 30 to 39(5 cases). 3. Lateralization showed 5 cases in the right, 2 cases in the left and none in both. 4. Presenting symptoms and signs were painful scrotal swelling in all 7 cases, fever 4 cases, tender epididymal nodule 4 cases and local heating 2 cases but beading of vas and scrotal fistula was not found. 5. In urine examination, pyuria was observed in 5 cases, hematuria in 1 case and no tubercle bacilli was observed. 6. Among 7 cases, we observed that epididymal tuberculosis were associated with pulmonary tuberculosis, active or inactive, in 5 cases and renal tuberculosis in 1 case.
Epididymitis* ; Fever ; Fistula ; Heating ; Hematuria ; Hot Temperature ; Male ; Pyuria ; Tuberculosis* ; Tuberculosis, Pulmonary ; Tuberculosis, Renal

No abstract available.
Antibodies, Monoclonal* ; Herpesvirus 4, Human* ; Humans* ; Tetanus Toxoid* ; Tetanus*

No abstract available.
Adaptive Immunity ; Animals ; Cell Line* ; Rats*

No abstract available.
Herpesvirus 4, Human*