Fontcuberta, J. (Jordi)

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2006 - 20102

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    A nonsense polymorphism in the protein Z-dependent protease inhibitor increases the risk for venous thrombosis
    (American Society of Hematology, 2006-07-01) Souto, J.C. (Juan Carlos); Perez-Ceballos, E. (Elena); Soria, J.M. (José Manuel); Miñano, A. (Antonia); Roldan, V. (Vanessa); Gonzalez-Conejero, R. (Rocío); Gonzalez-Porras, J.R. (José Ramón); Vicente, V. (Vicente); Fontcuberta, J. (Jordi); Hernandez-Espinosa, D. (David); Corral, J. (Javier); Lecumberri, R. (Ramón); Alberca, I. (Ignacio)
    The protein Z-dependent protease inhibitor (ZPI) is a hemostatic serpin with anticoagulant activity. As for antithrombin, deficiency of ZPI could have relevant thrombotic consequences. We have studied 6 genetic modifications affecting the ZPI gene, identifying 5 haplotypes. Haplotype H5 is featured by a stop codon at position 67. The relevance of these genetic modifications and haplotypes in venous thrombosis was evaluated in a case-control study including 1018 patients and 1018 age- and sex-matched controls. Surprisingly, the H5 haplotype was found in 0.9% of controls, supporting that the Arg67Stop change is a low frequency nonsense polymorphism. The prevalence of this haplotype increased significantly in patients (3.0%), one of whom was in a homozygous state. Multivariate analysis confirms that carriers have a 3.3-fold risk of developing venous thrombosis (P = .002; 95% CI: 1.5-7.1). Moreover, we observed a significant association of this polymorphism with familial history of thrombosis (P < .001). Our study supports that the ZPI Arg67Stop nonsense polymorphism might be an independent genetic risk factor for venous thrombosis. This polymorphism has slightly lower prevalence but similar thrombotic risk than the FV Leiden or prothrombin 20210A. Although further studies are required, all available data support that the ZPI is a candidate to play a significant role in thrombosis and should be evaluated in thrombophilic studies.
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    A Prospective Evaluation of Cerebral Infarction following Transcervical Carotid Stenting with Carotid Flow Reversal
    (Elsevier, 2010) Criado, E. (Enrique); Lane, B. (B.); Fontcuberta, J. (Jordi); Leal-Lorenzo, J.I. (José Ignacio); Doblas, M. (Manuel); Loh, C. (C.); Garcia-Benassi, J.M. (J. M.); Flores, A. (Ángel); Orgaz, A. (Antonio)
    Objective: Cerebral embolisation constitutes the main source of complications during transfemoral carotid artery stenting (CAS) and is associated with a high incidence of silent brain infarction. The goal of this study is to evaluate the incidence of new ischaemic cerebral lesions following transcervical CAS with carotid flow reversal for neuroprotection. Materials and Methods: Thirty-one consecutive patients underwent transcervical CAS with carotid flow reversal. A stroke scale and diffusion-weighted magnetic resonance imaging (DW-MRI) were performed within 24 h before and after the procedure. DW-MRI studies were compared blindly by two independent neuroradiologists. New hyper-intense DW signals were interpreted as ischaemic infarcts. The progress of all patients was followed for at least 30 days following intervention. Results: All procedures were technically successful. Nineteen (61%) patients were symptom- atic Mean carotid flow reversal time was 22 min. There were no major adverse events at 30 days. All patients remained neurologically intact without increase in the stroke scale. Thirty subjects had paired DW-MRI studies. Post-procedural DW-MRI ischaemic infarcts were found in four (12.5%) patients, all ipsilateral to the treated hemisphere and asymptomatic. During follow-up, all stents remained patent and all patients remained stroke-free.