ABSTRACT
Objective To investigate cartilage oligomeric matrix protein( COMP) gene mutation in a three-generation pedigree with two cases of pseudoachondroplasia, and to definitize genotype-phenotype correlation. Methods The clinical data and peripheral blood were collected from the patients with pseudoachondroplasia and their family members. All the 19 exons and their flanking sequences of COMP gene in two patients and three unaffected family numbers and 50 unrelated individuals were analyzed by PCR amplification and direct sequencing. Results The proband, a 6-year-old girl presented with typical clinical features of pseudoachondroplasia, including disproportionate short limb dwarfism, staggering gait, double genu varus deformity, and wider clinical and imaging long bone metaphysis. The 33-year-old father showed a similar manifestation including disproportionate short limb dwarfism and double genu varus deformity, and was performed correcting operation on lower limbs for double genu varus at the age of 10 years. DNA sequencing analysis of the COMP gene revealed a del mutation ( c. 1417 1419delGAC)in exon 13 in two patients with pseudoachondroplasia, but not in the other unaffected members from the pedrgree and 50 control subjects. Conclusion A del mutation c. 1417 1419delGAC of COMP gene may contribute to the disease in the pedigree.
ABSTRACT
Objective To evaluate the effect of Diver CE aspiration thrombus catheter used in patients during the recovery of acute myocardial infarction (AMI) with percutaneous coronary intervention (PCI). Methods A total of 50 AMI patients were enrolled from January 2010 to December 2011. Twenty-ifve patients received PCI and used the Diver CE aspiration thrombus catheter (aspiration group);and the other 25 patients received routine PCI (routine PCI group). The basic characteristics, PCI characteristics, myocardial perfusion indexes and clinical data were compared and analyzed. Results There was no statistically difference between two groups in basic characteristics. Compared with the routine PCI group, higher rate of myocardial blush grade 3 but lower thrombus scores were found in the aspiration group. The incidence of no-lfow or slow-lfow were also lower in aspiration group (all P<0.05). The LVEF after 6 and 12 months were higher in the aspiration group (both P<0.05), no difference in MACE between the two groups. Conclusions Using the Diver CE thrombus aspiration in PCI is a simple and safe by method for treatment of acute myocardial infarction with high thrombosis burden. It can improve reperfusion decrease the rates of no-relfow on slow-relfow and can improve the long-term left ventricular function.