OBJECTIVETo explore the molecular basis for three pedigrees affected with hypophosphatemia vitamin D resistant rickets (X-linked hypophosphatemia, XLH).

METHODSPeripheral blood samples from the three pedigrees were collected. Following DNA extraction, the 11 exons and flanking regions of the PHEX gene were subjected to PCR amplification and direct sequencing. Pathogenicity of identified mutations was evaluated through genotype-phenotype correlation.

RESULTSFor pedigrees 1 and 2, pathogenic mutations were respectively identified in exon 8 (c.871C>T, p.R291X) and exon 15 (c.1601C>T, p.P534L) of the PHEX gene. For pedigree 3, a novel mutation (c.1234delA, p.S412Vfs*12) was found in exon 11 of the PHEX gene, which caused shift the reading frame and premature termination of protein translation.

CONCLUSIONThe three mutations probably account for the XLH in the affected pedigrees. The discovery of novel mutations has enriched the spectrum of PHEX gene mutations.

Objective: To explore the influencing factors of slow blood flow phenomenon after emergency percutaneous coronary intervention (PCI) in patients with acute myocardial infarction (AMI). Methods: Clinical and PCI angiographic data of 488 patients, who were diagnosed as AMI and received primary PCI in our hospital from Jan 2010 to Jun 2011, were retrospectively analyzed. Patients were divided into slow blood flow group (n=51, TIMI flow ≤ grade 2) and normal flow group (n=437, TIMI flow= grade 3). Their clinical characteristics between two groups were compared. Results: Compared with normal flow group, there were significant reductions in percentages of thrombus aspiration (75.3% vs. 60.8%) and application of platelet glycoprotein IIb/IIIa receptor antagonist (81.7% vs. 68.6%) during PCI, and significant rise in total length of implanted stents [(31.8±12.2) mm vs. (35.7±12.0) mm] in slow blood flow group, P<0.05 all. Multi-factor Logistic regression analysis indicated that percentages of thrombus aspiration during PCI and total length of stents were independent influencing factors for slow blood flow (P<0.05 both). Conclusion: Percentages of thrombus aspiration and total length of stents during PCI are independent influencing factors for slow blood flow.