ABSTRACT
Klinefelter syndrome (KS) is the most common genetic cause of human male infertility. However, the effect of the extra X chromosome on different testicular cell types remains poorly understood. Here, we profiled testicular single-cell transcriptomes from three KS patients and normal karyotype control individuals. Among the different somatic cells, Sertoli cells showed the greatest transcriptome changes in KS patients. Further analysis showed that X-inactive-specific transcript ( XIST ), a key factor that inactivates one X chromosome in female mammals, was widely expressed in each testicular somatic cell type but not in Sertoli cells. The loss of XIST in Sertoli cells leads to an increased level of X chromosome genes, and further disrupts their transcription pattern and cellular function. This phenomenon was not detected in other somatic cells such as Leydig cells and vascular endothelial cells. These results proposed a new mechanism to explain why testicular atrophy in KS patients is heterogeneous with loss of seminiferous tubules but interstitial hyperplasia. Our study provides a theoretical basis for subsequent research and related treatment of KS by identifying Sertoli cell-specific X chromosome inactivation failure.
Subject(s)
Animals , Humans , Male , Female , Sertoli Cells/metabolism , Klinefelter Syndrome/genetics , Endothelial Cells , Testis/metabolism , X Chromosome/metabolism , Mammals/geneticsABSTRACT
Objective To assess potential diagnostic value of miRNA-767-3p in colorectal cancer (CRC).Methods The serum miRNA-767-3p levels in CRC patients,colorectal adenoma patients and healthy people were determined using real time quantitative PCR (qRT-PCR).The concentration of carcino embryonic antigen (CEA) was detected via chemiluminescent immunoassay (CLIA) in above three groups.Receiver operating curves (ROC) were established to evaluate the diagnostic efficiencies of miRNA-767-3p and combination with CEA in CRC patients.Results The levels of miRNA-767-3p were declined in CRC patients,colorectal adenoma patients and healthy people,respectively.ROC curves illustrated that the area under ROC curve (AUC) of miRNA-767-3p was up to 0.770 (95％CI:0.698-0.842),with sensitivity of 80％ and the specificity of 68％ in CRC diagnosis.Moreover,a higher AUC up to 0.862 (95％CI:0.806-0.918) with the sensitivity of 73％ and the specificity of 84％ was achieved when miRNA-767-3p and CEA were combined.Conclusions Serum miRNA-767-3p could be considered as an independent diagnostic marker of CRC,and miRNA-767-3p combined with CEA would increase the detective quantum efficiency of CRC.
ABSTRACT
<p><b>OBJECTIVE</b>To review tension-free repairing for the patients with inguinal hernia complicated with cirrhosis and ascites.</p><p><b>METHODS</b>Tension-free herniorrhaphy was performed in 16 cases with inguinal hernia complicated with cirrhosis and ascites from November 1999 to November 2003. The laboratory data before and after the operation were compared and analyzed in this group.</p><p><b>RESULTS</b>Of the patients, 13 cases were male and 3 were female, the mean age was (64 ± 12) years (range, 37 - 85 years). The liver function was classified as A degree in 4 case, B degree in 10 cases and C degree in 2 patients by using Child score. The operation was successfully carried out in all patients without complications and post-operative hepatoencephalopathy. There was no significant change in the plasma total protein, bilirubin, prothrombin activity and international normalized ratio (INR) after the operation. And the levels of albumin, globulin and white blood cell count changed remarkably after the operation (all P < 0.05). Plasma albumin level was obviously effected by the operation and treatment (P = 0.006). The mean follow-up time was 72.5 months (57 - 102 months). No recurrence occurred during the follow-up. There was no patient died in 30 days after the operation. Seven cases (43.8%) died in the later period of follow-up.</p><p><b>CONCLUSIONS</b>The tension-free repairing is feasible for the inguinal hernia complicated with cirrhosis and ascites. More attention should be paid to the level of plasma albumin and it should be corrected in time. The liver cirrhosis and its complications will progress after the operation with a poor prognosis.</p>