Objective To screen the mutations in 30 exons of COL4A5 gene from X-linked Alport syndrome. Methods 20 Chinese X-linked Alport syndrome patients from 16 families were examined. Genomic DNA was extracted from peripheral leukocyte and exon-specific primers were designed for 30 exons(1-25、31、 32、41、 50、51) . Polymerase chain reaction amplification was performed and followed bydegenerating gel gradient electrophoresis (DGGE) analysis. All abnormal migration bands were sequenced and one hundred normal persons selected as control. Results Four abnormal bands were detected, which were all point mutations and predicted to be functionally pathogenic, in four unrelated patients. One patienthad a nonsense mutation in exon 1 (Glu 22 Term); one had a missense mutation in exon 3l(Gly852Val).Two patients carried splicing mutations in intron 1 and 25 respectively(283+1G→T、2150 + 1G→T) .Conclusions X-linked Alport syndrome is caused by various kinds of COL4A5 gene mutations without any hotspot. Paralleled with the significance of exon mutations, intron mutations also play a critical role in the pathogenesis. Furthermore, these four pathogenic mutations have never been reported in the genebank and showed good correlation with clinical manifestations.

Objective Analysis and evaluation of cystatin C (Cysc) ,N‐acetyl‐beta‐D‐glucosaminidase (NAG) ,β2‐microglobulin (β2‐MG) ,blood urea nitrogen(BUN) ,serum creatinine(Scr) five biological parameters in the diagnosis of early renal damage caused by the diseases of Systemic lupus eythematosus ,diabetes or high blood pressure .Methods Collecting 61 patients with high blood pressure ,62 patients with systemic lupus eythematosus (SLE) ,59 patients with diabetes ,56 cases of healthy controls .Cysc was e‐valuated by immune transmission turbidimetric method ,latex enhanced immune turbidimetric method was used to detectβ2‐MG ,u‐sing two point method to determine NAG ,enzymatic assay Scr ,UV‐GLDH method was used to measure serum BUN ,and using the statistical method to analyze the data .Results There was no significant difference between healthy controls and patients group (P>0 .05) in BUN and Src levels .However ,there were significant differences in Cysc ,urineβ2‐MG and NAG concentrations (P<0 .01) .Under ROC curve ,the largest square of diagnosis indexes for early renal damage caused by SLE ,diabetes ,high blood pres‐sure were blood NAG ,urineβ2‐MG and Cysc .Compared to a single parameter ,the rate of joint detection in the diagnosis of early re‐nal damage is high ,a joint detection of Cysc ,β2‐MG and urine NAG could enhance the positive rate to 88 .7% ,which was signifi‐cantly higher than the joint detection with two indexes (77 .4% ,70 .9% or 66 .1% ) .Conclusion The most sensitive and specific in‐dex in the diagnosis of early renal damage caused by SLE ,diabetes ,high blood pressure were blood respectively NAG ,urine beta 2‐MG and Cysc .Joint detection has higher detection rate ,sensitivity ,specificity ,and has important clinical value in the early diagnosis of patients with renal damage ,which is suitable for clinical application .

OBJECTIVE To improve the surveillance and control of hospital infection.METHODS A series of management surveillance network information system for hospital infection were established by using SQL Server 2000 as database and Delphi 7.0 as program tool.The system included hospital infection case surveillance subsystem,antibiotic rational usage subsystem and the interface program of hospital information subsystem.RESULTS The hospital surveillance network connected the hospital infection department with the medical laboratory department and inpatient department,so the hospital infection data could be shared by all departments of hospital.CONCLUSIONS The system can improve work efficiency of hospital infection surveillance.

Objective To investigate the effect of miRNA-384 (miR-384)expression on hepatic steatosis in mice with nonalcoholic fatty liver disease (NAFLD)induced by high-fat diet (HFD). Methods A total of 30 male C57BL/6J mice were fed for 7 days to adapt to the environment and then randomly divided into 2 groups,with 15 mice in each group. The mice in the control group were given normal diet, and those in the model group were given HFD for 8 weeks and then the liver tissue was harvested. HE and Nile red staining were used to ob-serve the pathological changes of the liver. Microarray sequencing was performed to determine the whole-genome miRNA expression profile of liver tissue,and PCR was used to measure the relative expression of miR-384. The t-test was used for the comparison of continuous da-ta between groups. Results In the control group,the liver was red with sharp edges,the lobular structure was clear,and there was no he-patic steatosis;in the model group,the liver was yellow with blunt edges,and the hepatocytes were swollen with a large number of fat vacu-oles in the cytoplasm and nuclear deviation caused by the fusion of lipid droplets. Compared with the normal mice,the NAFLD mice had 12 upregulated miRNAs and 18 downregulated miRNAs in liver tissue. Some of the differentially expressed miRNAs between the control group and the model group were screened to obtain the same cluster diagram. Among the 8 miRNAs with significant changes,miR-384 showed a significant fold change. Conclusion The upregulation of miR -384 is closely associated with hepatic steatosis,but its mechanism still needs further study.

Accumulating data have revealed that abnormal activity of the mTOR (mammalian target of rapamycin) pathway plays an important role in epileptogenesis triggered by various factors. We previously reported that pretreatment with perifosine, an inhibitor of Akt (also called protein kinase B), abolishes the rapamycin-induced paradoxical increase of S6 phosphorylation in a rat model induced by kainic acid (KA). Since Akt is an upstream target in the mTOR signaling pathway, we set out to determine whether perifosine has a preventive effect on epileptogenesis. Here, we explored the effect of perifosine on the model of temporal epilepsy induced by KA in rats and found that pretreatment with perifosine had no effect on the severity or duration of the KA-induced status epilepticus. However, perifosine almost completely inhibited the activation of p-Akt and p-S6 both acutely and chronically following the KA-induced status epilepticus. Perifosine pretreatment suppressed the KA-induced neuronal death and mossy fiber sprouting. The frequency of spontaneous seizures was markedly decreased in rats pretreated with perifosine. Accordingly, rats pretreated with perifosine showed mild impairment in cognitive functions. Collectively, this study provides novel evidence in a KA seizure model that perifosine may be a potential drug for use in anti-epileptogenic therapy.
Animals ; Anticonvulsants ; pharmacology ; Brain ; drug effects ; pathology ; Convulsants ; toxicity ; Disease Models, Animal ; Epilepsy, Temporal Lobe ; chemically induced ; pathology ; Kainic Acid ; toxicity ; Male ; Neurons ; drug effects ; pathology ; Phosphorylcholine ; analogs & derivatives ; pharmacology ; Protein Kinase Inhibitors ; pharmacology ; Proto-Oncogene Proteins c-akt ; antagonists & inhibitors ; Rats ; Rats, Sprague-Dawley ; Status Epilepticus ; chemically induced ; pathology