Obstructive azoospermia （OA） is one of the most common causes of male infertility. Transrectal ultrasound （TRUS） has been used to diagnose OA for many years. From 2009 to 2013, we evaluated a prospective cohort of...Obstructive azoospermia （OA） is one of the most common causes of male infertility. Transrectal ultrasound （TRUS） has been used to diagnose OA for many years. From 2009 to 2013, we evaluated a prospective cohort of 1249 patients with suspected OA using TRUS. It was found that dilation of the ejaculatory duct （ED） （29.9%, 374/1249） was the most common cause of OA, followed by seminal vesicle （SV） abnormalities （28.5%, 356/1249）. A total of 237 patients were diagnosed with congenital defects （agenesis and/or hypoplasia） of the SV, constituting more than half of the cases of SV disease in OA （19.0%, 237/1249）. In contrast to ED, congenital defects of the SV could not be corrected with surgical treatment. Therefore, it is meaningful to compare TRUS and magnetic resonance imaging （MRI） for accurate diagnosis of SV defects. Among our patients, 30 with agenesis or/and hypoplasia of the SV on TRUS were further evaluated using pelvic MRI within 2 years, with the objective of verifying the TRUS results. The concordance rate for diagnosing congenital defects of the SV was 73.3% （22/30）. We concluded that TRUS is a reliable and convenient method for diagnosing agenesis or hypoplasia of the SV in OA patients with a high concordance with MRI while MRI is useful in patients with inconclusive TRUS findings.展开更多
Background Multiple recurrences are common in non-muscle invasive bladder cancer, but the-risk of multiple recurrences has not been fully described. Identifying patients at high risk of multiple recurrences will help ...Background Multiple recurrences are common in non-muscle invasive bladder cancer, but the-risk of multiple recurrences has not been fully described. Identifying patients at high risk of multiple recurrences will help to select an optimal therapeutic strategy and to improve prognosis. This study was conducted to identify the risk factors for multiple recurrences of non-muscle invasive bladder cancer. Methods We reviewed the clinical data of all patients with non-muscle invasive bladder cancer in our hospital between January 2003 and February 2010. Patients with at least one recurrence were included. Multivariate analysis was performed for theorized risk factors （age, gender, tumor stage, grade, size, location, number of lesions, adjuvant intra-vesical chemotherapy after transurethral resection, and recurrence-free survival after each resection） to clarify risk factors for multiple recurrences of non-muscle invasive bladder cancer. Results Of the 278 patients with non-muscle invasive bladder cancer, 84 were with at least one recurrence and a total of 222 recurrences among them were followed up for 6-70 months （mean, 36.1 months）. Recurrence-free survival after initial resection predicted the overall frequency of bladder cancer recurrence （risk ratio （RR） = 37.83, 95% confidence interval （C/）=3.45-396.13, P=0.001） and second recurrence （RR=6.15, 95% C/=1.28-29.57, P=0.023）. Similarly, recurrence-free survival after a second resection was the only significant risk factor for third recurrence （RR=31.08, 95% C1=2.53-381.47, P=0.007）. Moreover, recurrence-free survival after initial resection was the only significant factor to predict later progression to muscle invasive bladder cancer （RR=8.62, 95% C1=1.47-58.34, P=0.001）. Conclusions Recurrence-free survival after resection is an independent predictor of multiple recurrences of non-muscle invasive bladder cancer. The shorter the period between resection and recurrence is, the higher the risk of multiple recurrences.展开更多
Background Von HippeI-Lindau disease （VHL）,a heritable autosomal dominant disease characterized by neoplasia in multiple organ systems,has rarely been reported in Asia.We genetically investigated a unique Chinese fa...Background Von HippeI-Lindau disease （VHL）,a heritable autosomal dominant disease characterized by neoplasia in multiple organ systems,has rarely been reported in Asia.We genetically investigated a unique Chinese family with VHL disease and performed an analysis of the VHL protein stability.Methods Genomic deoxyribonucleic acid （DNA） extracted from peripheral blood was amplified by polymerase chain reaction （PCR） to three exons of the VHL gene in 9 members of the Chinese family with VHL disease.PCR products were directly sequenced.We estimated the effects of VHL gene mutation on the stability of pVHL,which is indicated by the free energy difference between the wild-type and the mutant protein （△△G）.Results The Chinese family was classified as VHL type 1.Three family members,including two patients and a carrier,had a T to G heterozygotic missense mutation at nucleotide 515 of the VHL gene exon 1.This missense mutation resulted in the transition from leucine to arginine in amino acid 101 of the VHL protein.There was low stability of the VHL protein （the △△G was 12.71 kcal/mol） caused by this missense mutation.Conclusions We first reported a family with this VHL gene mutation in Asia.This missense mutation is predicted to significantly reduce the stability of the VHL protein and contribute to the development of the renal cell carcinoma （RCC） phenotype displayed by this family.The genetic characterization and protein stability analysis of families with VHL disease are important for early diagnosis and prevention of the disease being passed on to their offspring.展开更多
文摘Obstructive azoospermia （OA） is one of the most common causes of male infertility. Transrectal ultrasound （TRUS） has been used to diagnose OA for many years. From 2009 to 2013, we evaluated a prospective cohort of 1249 patients with suspected OA using TRUS. It was found that dilation of the ejaculatory duct （ED） （29.9%, 374/1249） was the most common cause of OA, followed by seminal vesicle （SV） abnormalities （28.5%, 356/1249）. A total of 237 patients were diagnosed with congenital defects （agenesis and/or hypoplasia） of the SV, constituting more than half of the cases of SV disease in OA （19.0%, 237/1249）. In contrast to ED, congenital defects of the SV could not be corrected with surgical treatment. Therefore, it is meaningful to compare TRUS and magnetic resonance imaging （MRI） for accurate diagnosis of SV defects. Among our patients, 30 with agenesis or/and hypoplasia of the SV on TRUS were further evaluated using pelvic MRI within 2 years, with the objective of verifying the TRUS results. The concordance rate for diagnosing congenital defects of the SV was 73.3% （22/30）. We concluded that TRUS is a reliable and convenient method for diagnosing agenesis or hypoplasia of the SV in OA patients with a high concordance with MRI while MRI is useful in patients with inconclusive TRUS findings.
文摘Background Multiple recurrences are common in non-muscle invasive bladder cancer, but the-risk of multiple recurrences has not been fully described. Identifying patients at high risk of multiple recurrences will help to select an optimal therapeutic strategy and to improve prognosis. This study was conducted to identify the risk factors for multiple recurrences of non-muscle invasive bladder cancer. Methods We reviewed the clinical data of all patients with non-muscle invasive bladder cancer in our hospital between January 2003 and February 2010. Patients with at least one recurrence were included. Multivariate analysis was performed for theorized risk factors （age, gender, tumor stage, grade, size, location, number of lesions, adjuvant intra-vesical chemotherapy after transurethral resection, and recurrence-free survival after each resection） to clarify risk factors for multiple recurrences of non-muscle invasive bladder cancer. Results Of the 278 patients with non-muscle invasive bladder cancer, 84 were with at least one recurrence and a total of 222 recurrences among them were followed up for 6-70 months （mean, 36.1 months）. Recurrence-free survival after initial resection predicted the overall frequency of bladder cancer recurrence （risk ratio （RR） = 37.83, 95% confidence interval （C/）=3.45-396.13, P=0.001） and second recurrence （RR=6.15, 95% C/=1.28-29.57, P=0.023）. Similarly, recurrence-free survival after a second resection was the only significant risk factor for third recurrence （RR=31.08, 95% C1=2.53-381.47, P=0.007）. Moreover, recurrence-free survival after initial resection was the only significant factor to predict later progression to muscle invasive bladder cancer （RR=8.62, 95% C1=1.47-58.34, P=0.001）. Conclusions Recurrence-free survival after resection is an independent predictor of multiple recurrences of non-muscle invasive bladder cancer. The shorter the period between resection and recurrence is, the higher the risk of multiple recurrences.
基金This research was supported by grants from the National Natural Science Foundation of China （No. 30901487, No. 81302223, No. 81070488 and No. 81172432）, the Guangdong Natural Science Foundation （No. 10251008901000005）, and the Guangdong Province Science and Technology Project （No. 2011 B031800115, No. 2011 B032000003 and No. 20101051500032）.
文摘Background Von HippeI-Lindau disease （VHL）,a heritable autosomal dominant disease characterized by neoplasia in multiple organ systems,has rarely been reported in Asia.We genetically investigated a unique Chinese family with VHL disease and performed an analysis of the VHL protein stability.Methods Genomic deoxyribonucleic acid （DNA） extracted from peripheral blood was amplified by polymerase chain reaction （PCR） to three exons of the VHL gene in 9 members of the Chinese family with VHL disease.PCR products were directly sequenced.We estimated the effects of VHL gene mutation on the stability of pVHL,which is indicated by the free energy difference between the wild-type and the mutant protein （△△G）.Results The Chinese family was classified as VHL type 1.Three family members,including two patients and a carrier,had a T to G heterozygotic missense mutation at nucleotide 515 of the VHL gene exon 1.This missense mutation resulted in the transition from leucine to arginine in amino acid 101 of the VHL protein.There was low stability of the VHL protein （the △△G was 12.71 kcal/mol） caused by this missense mutation.Conclusions We first reported a family with this VHL gene mutation in Asia.This missense mutation is predicted to significantly reduce the stability of the VHL protein and contribute to the development of the renal cell carcinoma （RCC） phenotype displayed by this family.The genetic characterization and protein stability analysis of families with VHL disease are important for early diagnosis and prevention of the disease being passed on to their offspring.
