The prevalence or azoospermia .in the general population has been estimated to be 2 percent. Azoospermia is found in up to lO to 20 per cent of the men who present to an infertility clinic. The main causes are testicular failure and ductal obstruction. The ejaculatory duct obstruction was reported about 6 percent of the ductal obstruction. We present a case of a young adult azoospermic male patient with bilateral obstruction of the terminal ejaculatory duct who was treated successfully by transurethral incision using Collings cold knife in the area of the ejaculatory ducts.
Azoospermia ; Ejaculatory Ducts* ; Humans ; Infertility* ; Male ; Prevalence ; Young Adult

PURPOSE: Recent discovery of BRCA1 and BRCA2 genes has made it possible to perform presymptomatic diagnosis in hereditary breast/ovarian cancer families. We have previously reported germline mutations of the BRCA1 gene in Korean hereditary breast/ovarian cancer families. In that study two out of 13 families were found to have germline mutations in BRCA1 gene. One was a nonsense mutation in codon 1815, and the other was a frameshift mutation due to 2 base-pair deletion in codon 1701 of BRCA1 gene. This study was intended to identify germline mutations of the BRCA2 gene in Korean breast/ovarian cancer families. MATERIALS AND METHODS: Peripheral blood DNA was obtained from 10 breast cancer patients registered at the Korean Hereditary Tumor Registry with positive family history of breast and/or ovarian cancer. Exons 11 and 27 of the BRCA2 gene(together accounting for 50% of the coding region of the BRCA2 gene) were amplified by polymerase chain reaction(PCR) and screened for mutations by in vitro transcription/translation method. For confirmation of the mutations, automatic sequencing of the PCR products displaying abnormal truncated protein bands was perfomed. RESULT: We identified an abnormal truncated protein in the exon 11 of the BRCA2 gene from a member of hereditary breast cancer family, SNU-B4. Sequencing analysis revealed a 4 bp deletion in codons 1248-49 of the exon 11, resulting in frameshift that led to premature stop codon and truncation of the protein product. CONCLUSION: We have identified a germline mutation from a Korean hereditary breast cancer family. So far only one case of the same mutation has been registered in Database of BRCA2 mutation (BIC) by a commercial genetic diagnosis company, Myriad Genetics, Inc. Identification of the germline mutation in BRCA2 gene should aid in the accurate presymptomatic diagnosis of the at-risk members in this family.
Breast Neoplasms ; Breast* ; Clinical Coding ; Codon ; Codon, Nonsense ; Diagnosis ; DNA ; Exons ; Frameshift Mutation ; Genes, BRCA1 ; Genes, BRCA2* ; Genetics ; Germ-Line Mutation* ; Humans ; Ovarian Neoplasms* ; Polymerase Chain Reaction

BACKGROUND AND OBJECTIVES: Recent studies have implicated inflammation as playing an important role in the occurrence, persistence and recurrence of atrial fibrillation and that C-reactive protein is a useful marker of the inflammation. The purpose of this study is to evaluate the association between serum CRP levels and the risk of atrial fibrillation. SUBJECTS AND METHODS: This study was performed on 9,487 subjects (5,263 men and 4,224 women; mean age: 58.8+/-6.6 years) who underwent medical check-ups at the Health Promotion Center in Kanbuk Samsung Hospital. 9,438 normal control subjects and 49 atrial fibrillation patients were included in the study. The CRP was measured using a highly sensitive Behring Nephelometer II. RESULTS: When comparing the two groups, there were significant differences in age, gender and the presence of hypertension and cerebrovascular accident, and these are the previously known risk factors for atrial fibrillation. After adjustment was made for the clinical significant variables of atrial fibrillation, multiple regression analysis revealed that the hsCRP levels were not associated with the risk for atrial fibrillation (p=0.52). CONCLUSION: The inflammatory markers (CRP, WBC count) were not predictive of a higher risk for atrial fibrillation in the Korean population.
Adult* ; Atrial Fibrillation* ; C-Reactive Protein* ; Female ; Health Promotion ; Humans ; Hypertension ; Inflammation ; Male ; Recurrence ; Risk Factors ; Stroke