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I. MARTÍNEZ‐MARTÍNEZ D. J. D. JOHNSON M. YAMASAKI J. NAVARRO‐FERNÁNDEZ A. ORDÓÑEZ V. VICENTE J. A. HUNTINGTON J. CORRAL 《Journal of thrombosis and haemostasis》2012,10(9):1859-1866
Summary. Background: The metastable native conformation of serpins is required for their protease inhibition mechanism, but also renders them vulnerable to missense mutations that promote protein misfolding with pathological consequences. Objective: To characterize the first antithrombin deficiency caused by a large in‐frame insertion. Patients/Methods: Functional, biochemical and molecular analysis of the proband and relatives was performed. Recombinant antithrombin was expressed in HEK‐EBNA cells. Plasma and recombinant antithrombins were purified and sequenced by Edman degradation. The stability was evaluated by calorimetry. Reactive centre loop (RCL) exposure was determined by thrombin cleavage. Mutant antithrombin was crystallized as a dimer with latent plasma antithrombin. Results: The patient, with a spontaneous pulmonary embolism, belongs to a family with significant thrombotic history. We identified a complex heterozygous in‐frame insertion of 24 bp in SERPINC1, affecting strand 3 of β‐sheet A, a region highly conserved in serpins. Surprisingly, the insertion resulted in a type II antithrombin deficiency with heparin binding defect. The mutant antithrombin, with a molecular weight of 59 kDa, had a proteolytic cleavage at W49 but maintained the N‐terminal disulphide bonds, and was conformationally sensitive. The variant was non‐inhibitory. Analysis of the crystal structure of the hyperstable recombinant protein showed that the inserted sequence annealed into β‐sheet A as the fourth strand, and maintained a native RCL. Conclusions: This is the first case of a large in frame‐insertion that allows correct folding, glycosylation, and secretion of a serpin, resulting in a conformationally sensitive non‐inhibitory variant, which acquires a hyperstable conformation with a native RCL. 相似文献
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Primary Immunodeficiency Diseases in Latin America: The Second Report of the LAGID Registry 总被引:4,自引:4,他引:0
Leiva LE Zelazco M Oleastro M Carneiro-Sampaio M Condino-Neto A Costa-Carvalho BT Grumach AS Quezada A Patiño P Franco JL Porras O Rodríguez FJ Espinosa-Rosales FJ Espinosa-Padilla SE Almillategui D Martínez C Tafur JR Valentín M Benarroch L Barroso R Sorensen RU;Latin American Group for Primary Immunodeficiency Diseases 《Journal of clinical immunology》2007,27(1):101-108
This is the second report on the continuing efforts of LAGID to increase the recognition and registration of patients with
primary immunodeficiency diseases in 12 Latin American countries: Argentina, Brazil, Chile, Colombia, Costa Rica, Honduras,
Mexico, Panama, Paraguay, Peru, Uruguay, and Venezuela. This report reveals that from a total of 3321 patients registered,
the most common form of primary immunodeficiency disease was predominantly antibody deficiency (53.2%) with IgA deficiency
reported as the most frequent phenotype. This category was followed by 22.6% other well-defined ID syndromes, 9.5% combined
T- and B-cell inmunodeficiency, 8.6% phagocytic disorders, 3.3% diseases of immune dysregulation, and 2.8% complement deficiencies.
All countries that participated in the first publication in 1998 reported an increase in registered primary immunodeficiency
cases, ranging between 10 and 80%. A comparison of the estimated minimal incidence of X-linked agammaglobulinemia, chronic
granulomatous disease, and severe combined immunodeficiency between the first report and the present one shows an increase
in the reporting of these diseases in all countries. In this report, the estimated minimal incidence of chronic granulomatous
disease was between 0.72 and 1.26 cases per 100,000 births in Argentina, Chile, Costa Rica, and Uruguay and the incidence
of severe combined immunodeficiency was 1.28 and 3.79 per 100,000 births in Chile and Costa Rica, respectively. However, these
diseases are underreported in other participating countries. In addition to a better diagnosis of primary immunodeficiency
diseases, more work on improving the registration of patients by each participating country and by countries that have not
yet joined LAGID is still needed.
Latin American Group for Primary Immunodeficiency Diseases 相似文献
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G. GARRABOU J. M. INORIZA C. MORÉN G. OLIU Ò. MIRÓ M. J. MARTÍ 《journal of environmental science and health part c-environmental carcinogenesis & ecotoxicology reviews》2013,31(1):32-51
The best oxygen therapy for acute carbon monoxide poisoning (ACOP) remains unestablished. Reported mitochondrial complex IV (mtCIV) inhibition, together with carboxyhaemoglobin (COHb)-induced hypoxia, may influence acute clinical symptoms and outcome. To “mitochondrially” evaluate treatment efficacy, we correlated intoxication severity and symptoms with mitochondrial function (mtCIV activity) and oxidative stress (lipid peroxidation) in 60 poisoned patients and determined ACOP recovery depending on either normobaric or hyperbaric oxygen therapy along a 3-month follow-up. In the present article we positively evaluate mtCIV as a good marker of ACOP recovery, treatment effectiveness, and late neurological syndrome development, which advocates for hyperbaric oxygen therapy as the treatment of choice. However, we discourage its usefulness as a severity marker because of its excessive sensitivity. We additionally evaluate oxidative stress role and prognostic factors for neurological sequelae development. 相似文献
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JAVIER DEL BOZ M.D. TRINIDAD MARTÍN Ph.D. ELIA SAMANIEGO Ph.D. ÁNGEL VERA Ph.D. ANDRÉS SANZ Ph.D. VICENTE CRESPO M.D. 《Pediatric dermatology》2008,25(6):648-649
Abstract: We report the exceptional case of 11‐year‐old identical male twins who both developed discoid lupus erythematosus lesions. Although systemic lupus erythematosus has often been reported in identical twins, discoid lupus erythematosus has only ocassionaly been described, with only one other case in twin children, as far as we are aware. 相似文献
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Shock Reduction With Multiple Bursts of Antitachycardia Pacing Therapies to Treat Fast Ventricular Tachyarrhythmias in Patients With Implantable Cardioverter Defibrillators: A Multicenter Study
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IGNASI ANGUERA M.D. PAOLO DALLAGLIO M.D. JOSE MARTÍNEZ‐FERRER M.D. ANÍBAL RODRÍGUEZ M.D. JAVIER ALZUETA M.D. JULIÁN PÉREZ‐VILLACASTÍN M.D. JOSÉ MANUEL PORRES M.D. XAVIER VIÑOLAS M.D. ADOLFO FONTENLA M.D. IGNACIO FERNÁNDEZ‐LOZANO M.D. ARCADIO GARCÍA‐ALBEROLA M.D. XAVIER SABATÉ M.D. 《Journal of cardiovascular electrophysiology》2015,26(7):774-782
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Systematic Implantation of Pacemaker/ICDs under Active Oral Anticoagulation Irrespective of Patient's Individual Preoperative Thromboembolic Risk
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ÓSCAR CANO M.D. Ph.D. ANA ANDRÉS M.D. REBECA JIMÉNEZ M.D. JOAQUÍN OSCA M.D. Ph.D. PAU ALONSO M.D. YDELISE RODRÍGUEZ M.D. MARÍA‐JOSÉ SANCHO‐TELLO M.D. JOSÉ OLAGÜE M.D. JOSÉ E. CASTRO M.D. ANTONIO SALVADOR M.D. Ph.D. LUIS MARTÍNEZ‐DOLZ M.D. Ph.D. 《Pacing and clinical electrophysiology : PACE》2015,38(6):723-730