Rapid screening for Klinefelter syndrome with a simple high-resolution melting assay: a multicenter study / 亚洲男科学杂志(英文版)

Klinefelter syndrome (KS) is the set of symptoms that result from the presence of an extra X chromosome in males. Postnatal population-based KS screening will enable timely diagnosis of this common chromosomal disease, providing the opportunity for early intervention and therapy at the time point when they are most effective and may prevent later symptoms or complications. Therefore, through this study, we introduced a simple high-resolution melting (HRM) assay for KS screening and evaluated its clinical sensitivity and specificity in three medical centers using 1373 clinical blood samples. The HRM assay utilized a single primer pair to simultaneously amplify specific regions in zinc finger protein, X-linked (ZFX) and zinc finger protein, Y-linked (ZFY). In cases of KS, the ratios of ZFX/ZFY are altered compared to those in normal males. As a result, the specific melting profiles differ and can be differentiated during data analysis. This HRM assay displayed high analytical specificity over a wide range of template DNA amounts (5 ng-50 ng) and reproducibility, high resolution for detecting KS mosaicism, and high clinical sensitivity (100%) and specificity (98.1%). Moreover, the HRM assay was rapid (2 h per run), inexpensive (0.2 USD per sample), easy to perform and automatic, and compatible with both whole blood samples and dried blood spots. Therefore, this HRM assay is an ideal postnatal population-based KS screening tool that can be used for different age groups.

A study on the association among serum insulin,IGFBP3, and endometrial cancer risk in Chinese women / 预防医学

Objective Toexploretheassociationamongseruminsulin,IGFBP3,andendometrialcancerriskinChinese women.Methods SeruminsulinandIGFBP3weredetectedbyELISAmethodin206patientswithendometrialcarcinoma and 310 healthy women.Using logistic regression analysis after adjustments for BMI,serum glucose and triglycerides to exploretheassociationamongthetwoindicatorsandtheriskofendometrialcarcinoma.Results Increasedinsulinwere found in the women with endometrial carcinomas as compared with that of controls [Mean ±SD:insulin (14.84 ±16.72) uU·mL-1 in women with cancer versus (8.13 ±9.40)uU·mL-1 in controls,P<0.01].However,serum IGFBP3 was not significantly higher in women with endometrial cancer [Mean ±SD:IGFBP3 (1.76 ±2.44)mg·L-1 in women with cancer versus (1.57 ±1.80)mg·L-1in controls,P>0.05].The risk for endometrial cancer was significantly higher in the upper quartile relevant to the lowest quartile of serum insulin,and lower in the upper quartile of serum IGFBP3 (P<0.05).Logistic regression analysis showed that serum insulin was the risk factor of endometrial carcinoma(OR=2.34, 95%CI:1.32 -4.14),after adjusting obesity/overweight status,serum glucose,total cholesterol,total glyceride,and HDL-C.Conclusion HyperinsulinemiawasanindependentriskfactorforendometrialcarcinomasinChinesewomen. However,the protective role of increased serum IGFBP3 should be validated further.

Conventional and molecular cytogenetic analyses of a derivative X chromosome in amniocentesis / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To analyze the aberrant der(X) chromosome using conventional and molecular cytogenetic approaches in a fetus of second trimester and to discuss its clinical effect.</p><p><b>METHODS</b>Conventional cytogenetic procedures (GTG and CBG banding) were performed on cultured amniotic fluid cells. Three-color fluorescence in situ hybridization (FISH) consisting of X chromosome enumeration probes(CEPX), CEPY and Tel Xp/Yp was further performed to study the aberrant der(X) chromosome.</p><p><b>RESULTS</b>Der(X) was a rare X/Y translocation. The final karyotypes of the fetus was designated as: 46,X,der(X)t(X;Y)(p22.3;q11.2). ish der(X)t(X;Y)(p22.3;q11.2)(X/Ypter-, DXZ1+, DYZ1+)mat.</p><p><b>CONCLUSION</b>The combination of FISH and conventional cytogenetic techniques is a powerful tool to determine derivative chromosome and to offer an accurate genetic counseling. Identification of Xp; Yq rearrangement can help estimate the risk of fetus abnormalities and give a more precise prognosis.</p>

Significance and analysis of unconcentrated urine sample from patients with pregnancy induced hypertension syndrome by protein electrophoresis / 中华检验医学杂志

Objective To investigate the relationship between proteinuria components and the severity of pregnancy induced hypertension syndrome (PIH), the unconcentrated urine samples from patients with PIH were analyzed on proteinuria components by electrophoresis.Methods Proteinuria components were analyzed by sodium dodecyl sulfate-agarose gel electrophoresis (SDS-AGE) in unconcentrated urine samples from PIH patients (PIH group,n=114) and normal third trimester pregnant women (control group,n=110).Results Eleven kinds of urinary protein were detected in the PIH group and four in the control group. The results showed positive relationship between the urine protein component complexity and the severity of PIH (P