Résumé
Aspirin is a primary and secondary preventive medication for ischemic cerebrovascular diseases .Artery thrombotic events are still possible to occur after taking aspirin for a long time,and this indicates aspirin resistance(AR).At present, there is still lack of gold standard for the diagnosis of AR. It is usually interpreted as the loss of the biological effect of aspirin's antiplatelet aggregation and the role of preventing cerebral thrombosis events. Once AR occurs, other safe and effective altematives to antiplatelet agents should he used timely. This article reviews the concept, epidemiology, mechanisms, laboratory methods for detection and clinical intervention of AR.
Résumé
<p><b>OBJECTIVE</b>To identify an inbred Chinese pedigree with autosomal recessive muscular dystrophy and analyze the molecular defects.</p><p><b>METHODS</b>Linkage analysis was conducted using short tandem repeat(STR) markers from the regions associated with limb-girdle muscular dystrophy type 2A(LGMD2A) through 2H. Multi-Western blot was performed with anti-calpain-3, anti-dysferlin, anti-gamma-sarcoglycan, anti-alpha-sarcoglycan, and anti-dystrophin monoclonal antibodies. Mutation was determined by reverse transcriptase-polymerase chain reaction and sequencing.</p><p><b>RESULTS</b>Two-point linkage analysis showed significant Lod scores with markers from chromosome 2p13, the highest two-point Lod scores were obtained with D2S337 (Z(max)=1.86 at theta=0). Multi-Western blot confirmed dysferlin deficiency of muscle specimen from the proband. Mutation analysis revealed a novel 6429delG mutation on exon 53 of the DYSF gene for the proband.</p><p><b>CONCLUSION</b>The authors identified an inbred Chinese pedigree with Miyoshi myopathy caused by a 6429delG on the DYSF gene. This mutation is predicted to result in premature termination of translation.</p>