BACKGROUND CYP21A2 gene mutations may all cause reduction or loss of 21-hydroxylase activity,leading to development of congenital adrenal hyperplasia(CAH)with different clinical phenotypes.For families with CAH childr...BACKGROUND CYP21A2 gene mutations may all cause reduction or loss of 21-hydroxylase activity,leading to development of congenital adrenal hyperplasia(CAH)with different clinical phenotypes.For families with CAH children,genetic testing of the parents and genetic counseling are recommended to assess the risk of recurrence.CASE SUMMARY We report a case of CAH with a high suspicion before delivery.The risk of the child suffering from CAH during the pregnancy had been underestimated due to the deviation of genetic counseling and genetic testing results.Our report confirmed a CYP21A2 homozygous deletion in this case,CYP21A2 heterozygous deletion in the mother,and a rare 2+0 CYP21A2 deletion in the father.CONCLUSION It is important to analyze the distribution of CYP21A2 gene in the two alleles of parents of children with CAH.展开更多
Purpose By comparing the outcomes of total hip arthroplasty with hemiarthroplasty in elderly patients with a femoral neck fracture to investigate the one-year mortality,dislocation,infection,reoperation rate,and throm...Purpose By comparing the outcomes of total hip arthroplasty with hemiarthroplasty in elderly patients with a femoral neck fracture to investigate the one-year mortality,dislocation,infection,reoperation rate,and thromboembolic event.Methods The PubMed,EMBASE databases,and Cochrane library were systematically searched from the inception dates to April 1,2020 for relevant randomized controlled trials in English language using the keywords:“total hip arthroplasty”,“hemiarthroplasty”and“femoral neck fracture”to identify systematic reviews and meta-analyses.Two reviewers independently selected articles,extracted data,assessed the quality evidence and risk bias of included trials using the Cochrane Collaboration’stools,and discussed any disagreements.The third reviewer was consulted for any doubts or uncertainty.We derived risk ratios and 95%confidence intervals.Mortality was defined as the primary outcome.Secondary outcomes were other complications,dislocation,infection,reoperation rate,and thromboembolic event.Results This meta-analysis included 10 studies with 1419 patients,which indicated that there were no significant differences between hemiarthroplasty and total hip arthroplasty in reoperation,infection rate,and thromboembolic event.However,there was a lower mortality and dislocation rate association with total hip arthroplasty at the one-year follow-up.Conclusion Based on our results,we found that total hip arthroplasty was better than hemiarthroplasty for a hip fracture at one-year follow-up.展开更多
Renal cell carcinoma （RCC） is the most common malignant tumour in the adult kidney. Recent studies have shown that inactivation of the tumour suppressor gene VHL located in chromosome 3p25-26 region is responsible f...Renal cell carcinoma （RCC） is the most common malignant tumour in the adult kidney. Recent studies have shown that inactivation of the tumour suppressor gene VHL located in chromosome 3p25-26 region is responsible for sporadic RCCs. According to Kundson＇s two hit theory, the mechanism of inactivation of a tumour suppressor gene involves mutation, hypermethylation and loss of heterozygosity （LOH）.展开更多
基金Supported by the Fundamental Research Funds of Health Commission of Sichuan Province,No.17ZD035.
文摘BACKGROUND CYP21A2 gene mutations may all cause reduction or loss of 21-hydroxylase activity,leading to development of congenital adrenal hyperplasia(CAH)with different clinical phenotypes.For families with CAH children,genetic testing of the parents and genetic counseling are recommended to assess the risk of recurrence.CASE SUMMARY We report a case of CAH with a high suspicion before delivery.The risk of the child suffering from CAH during the pregnancy had been underestimated due to the deviation of genetic counseling and genetic testing results.Our report confirmed a CYP21A2 homozygous deletion in this case,CYP21A2 heterozygous deletion in the mother,and a rare 2+0 CYP21A2 deletion in the father.CONCLUSION It is important to analyze the distribution of CYP21A2 gene in the two alleles of parents of children with CAH.
文摘Purpose By comparing the outcomes of total hip arthroplasty with hemiarthroplasty in elderly patients with a femoral neck fracture to investigate the one-year mortality,dislocation,infection,reoperation rate,and thromboembolic event.Methods The PubMed,EMBASE databases,and Cochrane library were systematically searched from the inception dates to April 1,2020 for relevant randomized controlled trials in English language using the keywords:“total hip arthroplasty”,“hemiarthroplasty”and“femoral neck fracture”to identify systematic reviews and meta-analyses.Two reviewers independently selected articles,extracted data,assessed the quality evidence and risk bias of included trials using the Cochrane Collaboration’stools,and discussed any disagreements.The third reviewer was consulted for any doubts or uncertainty.We derived risk ratios and 95%confidence intervals.Mortality was defined as the primary outcome.Secondary outcomes were other complications,dislocation,infection,reoperation rate,and thromboembolic event.Results This meta-analysis included 10 studies with 1419 patients,which indicated that there were no significant differences between hemiarthroplasty and total hip arthroplasty in reoperation,infection rate,and thromboembolic event.However,there was a lower mortality and dislocation rate association with total hip arthroplasty at the one-year follow-up.Conclusion Based on our results,we found that total hip arthroplasty was better than hemiarthroplasty for a hip fracture at one-year follow-up.
文摘Renal cell carcinoma （RCC） is the most common malignant tumour in the adult kidney. Recent studies have shown that inactivation of the tumour suppressor gene VHL located in chromosome 3p25-26 region is responsible for sporadic RCCs. According to Kundson＇s two hit theory, the mechanism of inactivation of a tumour suppressor gene involves mutation, hypermethylation and loss of heterozygosity （LOH）.
