Status of hemodialysis and qualified status of dialysis water and dialysate in a city / 中国感染控制杂志

Objective To investigate current status of hemodialysis,and qualified status of dialysis water and dia-lysate in a city. Methods Status of hemodialysis in 36 medical institutions in a city which conducted blood purifica-tion programme was surveyed,dialysis water and dialysate were collected to perform microbial detection(including conventional and low temperature culture methods)and on-site ATP detection.Results 13.89% of equipments for water treatment were used less than 1 year,5.56% were used for more than 10 years. 77.78% of medical institu-tions didn't replace sand filtration which had been used for more than 1 year,the replacement time of 72.22% of fil-ter core was less than 3 months,2.78% of reverse water supply pipeline was used for more than 10 years.77.78%of medical institutions used finished A solution,72.22% used finished B solution,22.22% used centrally provided A solution,19.44% used centrally provided B solution,and 8.34% used self-made B solution. Routine microbial detection in 36 medical institutions were qualified,but 80.56% of detection results were"0" value for long period;ATP detection of on-site collected dialysis water and dialysate were all qualified. One specimen for microbial detec-tion under normal temperature exceeded the standard,2 reached the intervention value;4 specimens for microbial detection under low temperature exceeded the standard,6 reached the intervention value;qualified rates of 3 kinds of detection methods among different levels of medical institutions weren't significantly different(all P>0.05).Con-clusion The overall quality of hemodialysis water and dialysate in this city is good,the majority of medical institutions pay attention to the routine maintenance of water treatment equipment,detect the quality of hemodialysis water and dialysate regularly,but microbial detection technique needs to be improved,causes for abnormal results or intervention value of rou-tine detection needs to be analyzed and improved continuously.

Coding-sequence point mutation and polymorphism analyses of SIP1 gene in Hirschsprung disease / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To investigate the point mutations and polymorphisms of SIP1 gene in Hirschsprung disease(HSCR) and discuss the relationship between the feature of gene mutations and single nucleotide polymorphisms of SIP1 gene and HSCR.</p><p><b>METHODS</b>Polymerase chain reaction-single strand conformation polymorphism(PCR-SSCP)and DNA direct sequencing were performed in 50 HSCR cases and 30 normal controls. All 10 exons of SIP1 gene were analyzed for point mutations and single nucleotide polymorphisms (SNPs).</p><p><b>RESULTS</b>Loss of heterozygosity was observed in exon 7 in one patient. This variation leads to a nonsense mutation (L157L) and is an SNP. A missense mutation was detected in exon 8 in four patients, the frequency was 8%(4/50). PCR-SSCP was analyzed by silver staining. Identical patterns were observed in exon 2 for two cases, exon 7 for three cases, and exon 8 in seven patients.</p><p><b>CONCLUSION</b>The mutations of SIP1 gene were detected in HSCR. The results suggest that SIP1 gene might play an important role in the pathogenesis of HSCR.</p>