Congenital heart disease (CHD) is extremely rarely reported in 48, XYY, +21 karyotype. Herein, we reported one case of 48,XYY,+21 karyotype with CHD and reviewed the available literature. The phenotypic characteristics of the 4-month-old child showed the presence of features typical of mongoloid slant. X-ray detection showed the form of heart was corpulent and the bilateral mediastinum was broad. Doppler echocardiogram detection showed atrial septal and ventricular septal defects with patent ductus arteriosus, pulmonary hypertension and mild tricuspid regurgitation. Including this case, 63 cases of 48, XYY, +21 chromosome pattern have been reported. However, only 9 cases have CHD.

The aim is to investigate the spectrum of disease in 378 infants with human cytomegalovirus infection. In these patients, 27.78% were systemic infection and 72.22% involved single organ infection. Hepatitis, thrombocytopenic purpura, pneumonia were predominant with 33.07%, 13.49%, 6.35% respectively. The rate of HCMV systemic infection in infants younger than 2 weeks was higher than in those older than 2 weeks. The gB genotype analysis in 107 cases showed 53 gBI, 20 gBII, 18 gBIII, 7 gBI+gBII, 5 gBI+gBIII and 4 gBII+gBIII. These results suggest that HCMV can infect multiorgan and has varietal clinic feature. The gBI genotype is most prevalent.

Aim: To detect and differentiate six major human herpesviruses in the cerebrospinal fluid (CSF) and blood of children by polymerase chain reaction restriction fragment length polymorphism (PCR‐RFLP). Methods: We synthesized two pairs of primers in the well‐conserved regions of the DNA polymerase gene in human herpesviruses. One pair was designed to amplify cytomegalovirus (CMV), Epstein‐Barr virus (EBV), herpes simplex virus type 1 (HSV‐1) and type 2 (HSV‐2), and the other pair to amplify varicella‐zoster virus (VZV) and human herpesvirus 6 (HHV‐6) by PCR. Virus species identification was achieved by restriction enzyme digestion with BamHI and BstUI. Ninety‐eight CSF and 75 blood specimens were analysed by this technique. At the same time, all blood specimens were also examined by enzyme‐linked immunosorbent assay (ELISA). Results: Thirteen (13.3%) of 98 CSF specimens and 26 (34.7%) of 75 blood specimens were positive for herpesvirus DNA in this PCR assay. Only 10 (13.3%) of the blood specimens were positive in ELISA for virus‐IgM antibody. Sensitivity, specificity, positive predictive value (PPV) and negative predictive value (NPV) of PCR in detecting herpesvirus infections compared with ELISA were 100% (10/10), 75.4% (49/65), 38.5% (10/26) and 100% (49/49), respectively. These results indicate that the positive rate of PCR was significantly higher than that of ELISA (p<0.05). The herpesvirus type of these positive specimens was rapidly detected using restriction enzyme digestion with BamHI and BstUI. Conclusions: PCR‐RFLP is a specific, sensitive and accurate technique for the identification of herpesvirus infections in the CSF and blood of children.

PCR-RFLP is a specific, sensitive and accurate technique for the identification of herpesvirus infections in the CSF and blood of children.

Abstract. The aim of this study was to determine differences in the gene expression profile of kidney tissue from type 2 diabetes mellitus (T2D) and control rats using DNA microarray analysis. Total RNA was extracted from the kidney tissue of the T2D and control rats using the original single step method. cDNA retro-transcribed from an equal quantity of mRNA was labeled with Cy5 and Cy3 fluorescence and served as the probes. The mixed probes were hybridized to a DNA microarray. Fluorescence signals were scanned by an ScanArray 4000 laser scanner and further analyzed by QuantArray software. Apoptotic cells were detected in situ using the Roche TUNEL assay. Serum glucose, ApoAI, ApoB, ApoA1/ApoB, cholesterol and triglyceride levels were significantly higher in the T2D rats than in the controls, but there were no significant differences in serum insulin. When the kidney tissue was screened using the DNA microarray, differential expression was found for 41 genes. Five genes in the T2D rats were upregulated by 2-fold compared to the control rats, while 36 genes were down-regulated by 0.5-fold. Moreover, in the renal tubular epithelial cells, there was a significantly greater number of TUNEL-positive cells in the T2D group than in the control group. A total of 41 genes are associated with the occurrence and development of T2D and diabetic nephropathy. The present study suggests that examining differences in gene expression profiles is of benefit to the diagnosis, treatment and prevention of T2d, diabetic nephropathy and other T2d complications.