Identification of novel Factor XI mutations in a patient requiring dental extractions

Factor XI is a serine protease that participates in the intrinsic pathway of blood coagulation. Patients deficient in factor XI exhibit varying degrees of post operative bleeding following invasive surgical procedures such as dental extractions. Objectives: The aim of the study was to identify the specific mutations in a patient from a family with known factor XI deficiency. Methods: Samples were obtained from the patient, his mother and his father and subjected to DNA sequencing. Each protein coding exon 2-15 of the factor XI gene was amplified by polymerase chain reaction (PCR) followed by bidirectional sequencing utilizing di-deoxy chain termination chemistry. Results: The patient had a factor XI level of 20% of normal. Initial sequencing of factor XI from the patient identified a point mutation (646G>A) and a putative splice site mutation (1567+4A>T) in intron 13. These are novel previously unreported mutations. DNA sequence analysis of the mother revealed the 1567+4A>T mutation and the father exhibited the 646G>A mutation. As a consequence the treatment proceeded without serious bleeding complication and required administration only of transexamic acid though factor XI was available as haemostatic cover. Conclusion: The two mutations identified in this family are novel; further laboratory investigation of the functional consequences of those mutations is currently underway. Although factor XI deficiency is rare in the Northern Irish population this study highlights the techniques available to sequence and analyse this and similar haematological disorders.

Politics and Literary Prizes:A Case Study of Spanish America and the Premio Cervantes

The Premio Cervantes, one of the most prestigious prizes awarded for literature in the Spanish language, was established in 1976 as Spain negotiated the Transition to democracy in the post-Franco era. This article examines the context in which the prize was created and subsequently used to negotiate inter-continental relations between Spain and Latin America. The article highlights the exchanges of economic, political and symbolic capital which took place between the Spanish State, its representative, the King of Spain, and winning Latin American authors. Significantly, the involvement of the Spanish State is shown to bring political capital into play in a way that commercial prizes do not. In so doing, the Premio Cervantes gives those formerly at the colonial periphery the opportunity to speak out and negotiate the terms of a new kind of relationship with the former colonial center.