ZRS mutations in two Chinese Han families featuring triphalangeal thumbs and preaxial polydactyly / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To identify the causative mutations in two Chinese Han families featuring triphalangeal thumbs (TPT) and preaxial polydactyly (PPD).</p><p><b>METHODS</b>Blood samples were collected from 9 members (2 affected) from family 1 and 14 members (7 affected) from family 2. After genomic DNA was extracted, the ZPA regulatory sequence (ZRS) region was analyzed with real-time quantitative PCR (qPCR) and Sanger sequencing. For family 1, haplotypes compassing the ZRS were also analyzed with short tandem repeats (STR) and single nucleotide changes.</p><p><b>RESULTS</b>No copy number mutation around the ZRS region was found in both families. Two heterogeneous mutations in the ZRS (406A>G and 105C>G) were found to co-segregate with the TPT/PPD malformation in family 1 and 2, respectively. Neither mutation was detected in 200 healthy individuals. Haplotype analysis and Sanger sequencing of family 1 indicated that the first TPT/PPD patient in the family was both germline and somatic mosaic for the 406A>G mutation.</p><p><b>CONCLUSION</b>Two pathogenic ZRS mutations, 105C>G and 406A>G, have been identified in two Chinese Han families with TPT/PPD, among which the 406A>G mutation was de novo.</p>

Intervention effect on hand hygiene of health care workers in a general in-tensive care unit / 中国感染控制杂志

Objective To intervene hand hygiene(HH)of health care workers (HCWs)in an intensive care unit(ICU)of a hospital,and evaluate HH compliance of HCWs and influencing factors.Methods 37 HCWs from an ICU of a teaching hospital were chosen as studied subjects,HH status before and after intervention was observed and analyzed by direct and indirect methods.Results In the first monitoring stage,HH rate in baseline and post-intervention survey stage was signifi-cantly different (46.96% vs 63.30%,χ2 =7.344,P =0.007);in the second monitoring stage,HH compliance rate in-creased from 57.85% to 88.58%.HH compliance rate was positively correlated with consumption of HH product per bed-day(r=0.725,P <0.001),but negatively correlated with incidence of healthcare-associated infection(HAI)and case rate of HAI(r=-0.983,-0.990,respectively,both P <0.001),HH rate to alcohol-based hand sanitizers was positively correlated with consumption of HH product per bed-day (r=0.391,P <0.001 ).Conclusion Long-term monitoring and intervention of HH compliance is necessary,combination of direct observation and indirect assessment of HH product con-sumption is helpful for effective monitoring and intervention of HH compliance among HCWs.