Javier de Gracia
Autonomous University of Barcelona
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Featured researches published by Javier de Gracia.
Pancreas | 2001
Ines Modolell; Antonio Alvarez; Luisa Guarner; Javier de Gracia; Juan-R. Malagelada
Background The clinical prevalence of cystic fibrosis (CF) in adults continues to rise, with a consequent impact on adult gastroenterology practice. Aim To characterize the gastrointestinal manifestations of CF in adult patients. Patients and Methods The clinical records of 89 adult CF patients treated at our institution from 1992 to 1999 were reviewed. Patients were distributed into two groups: group A (39 patients), which consisted of patients who were diagnosed with CF at when they were younger than 14 years old and who survived into adulthood; and group B (50 patients), who were diagnosed with CF at the age of 14 years or older. Data on CF genetic mutations, nutritional state, evidence of pulmonary, gastrointestinal, liver, or pancreatic involvement were collected for each patient. Results The most prevalent genetic mutation in our series was &Dgr;F508, present in 50 patients (56.2%), 29 of whom belonged to group A and 21 who belonged to group B. In group A, the &Dgr;F508 mutation was associated with exocrine pancreatic insufficiency (PI) in 26 of 29 patients (89.6%), whereas in group B it was associated with PI in only four patients (19%). Overall, PI was present in 33 of 39 patients (84.6%) in group A and in eight of 50 patients (16%) in group B. Four patients in group B had experienced previous episodes of acute pancreatitis; two of them had associated PI. Of the 89 patients, 12 (10 in group A) were malnourished. Malnutrition was invariably associated with PI. Hepatic and biliary tree abnormalities were particularly prevalent in patients in group A and was usually associated with PI. Intestinal manifestations were uncommon. Conclusions Diagnosis of CF before the age of 14 years is associated with greater gastrointestinal compromise than diagnosis at an older age, particularly with regard to PI. CF carriers of the &Dgr;F508 mutation have an increased risk of developing gastrointestinal manifestations.
Journal of Medical Genetics | 2012
Florentine S. Hilbers; Juul T. Wijnen; Nicoline Hoogerbrugge; Jan C. Oosterwijk; Margriet J. Collee; Paolo Peterlongo; Paolo Radice; Siranoush Manoukian; Irene Feroce; Fabio Capra; Fergus J. Couch; Xianshu Wang; Lucia Guidugli; Kenneth Offit; Sohela Shah; Ian G. Campbell; Ella R. Thompson; Paul A. James; Alison H. Trainer; Javier de Gracia; Javier Benitez; Christi J. van Asperen; Peter Devilee
Background Recently, rare germline variants in XRCC2 were detected in non-BRCA1/2 familial breast cancer cases, and a significant association with breast cancer was reported. However, the breast cancer risk associated with these variants needs further evaluation. Methods The coding regions and exon–intron boundaries of XRCC2 were scanned for mutations in an international cohort of 3548 non-BRCA1/2 familial breast cancer cases and 1435 healthy controls using various mutation scanning methods. Predictions on functional relevance of detected missense variants were obtained from three different prediction algorithms. Results The only protein-truncating variant detected was found in a control. Rare non-protein-truncating variants were detected in 20 familial cases (0.6%) and nine healthy controls (0.6%). Although the number of variants predicted to be damaging or neutral differed between prediction algorithms, in all instances these categories were evenly represented among cases and controls. Conclusions Our data do not confirm an association between XRCC2 variants and breast cancer risk, although a relative risk smaller than two could not be excluded. Variants in XRCC2 are unlikely to explain a substantial proportion of familial breast cancer.
Respiratory Medicine | 2003
Javier de Gracia; David de la Rosa; E. Catalán; Antonio Alvarez; Carlos Bravo; Ferran Morell
Bronchial artery embolization (BAE) is the treatment of choice in the majority of patients with severe hemoptysis. However, this procedure may be unavailable and even fail or be counterindicated in 4-13% of cases. In these cases, the efficacy of fibrinogen-thrombin (FT) instilled endoscopically as treatment for massive hemoptysis was assessed. Between August 1993 and February 1996 a prospective clinical study was performed. FT instillation was indicated in all patients with severe hemoptysis (> 150 ml/12 h) in whom BAE had failed, was counterindicated or not available. FT was instilled endoscopically. Patients were followed up until June 2001. Eleven of 101 patients (11%) with hemoptysis > 150 ml/12 h in whom BAE was not possible or proved ineffective were included. The severe hemoptysis was controlled immediately in all cases. During the follow-up period (mean: 39.4 months), early relapse of the severe hemoptysis occurred in two patients (18%) and a long-time relapse in one. Mean procedure duration was 3 min and no attributable complications were observed in any case. In conclusion, these results suggest that topical treatment with FT could be considered in the initial endoscopic evaluation of patients with severe hemoptysis while awaiting BAE or surgery, or as alternative treatment to arterial embolization when the latter is not available, has proved ineffective or is counterindicated.
Medicina Clinica | 2002
Javier de Gracia; Antonio Alvarez; Fernando Mata; Luisa Guarner; Montserrat Vendrell; Silvia Gadtner; Nicolás Cobos
Fundamento Establecer las caracteristicas clinicas y geneticas de los pacientes diagnosticados defibrosis quistica (FQ) en la edad adulta. Pacientes y metodo Estudio retrospectivo, observacional, descriptivo y comparativo de pacientesadultos afectados de FQ segun edad del diagnostico. Se incluyo en el estudio a todos los pacientesadultos (mayores de 16 anos) controlados en una unidad de fibrosis quistica hasta noviembre de2001. Los pacientes con diagnostico de FQ en la infancia (edad 2 para valores cualitativos y de la t de Student para loscuantitativos. Una p Resultados Se incluyo en el estudio a los 111 pacientes adultos (60 mujeres; edad media: 28 anos;intervalo: 16-69 anos) de los 245 (45,3%) pacientes controlados en la unidad de FQ. El grupo A loformaron 61 pacientes (32 mujeres; edad media: 23 anos) y el grupo B, 50 pacientes (28 mujeres;edad media: 32 anos). En la comparacion entre ambos grupos se encontro que los pacientes del grupoB presentaban una edad media superior, mayor peso, menor incidencia de manifestaciones digestivasiniciales, de insuficiencia pancreatica, de malnutricion, de enfermedad hepatica, de colonizacionbronquial cronica por Pseudomonas aeruginosa , de ingresos hospitalarios, de trasplantes pulmonaresy de fallecimientos por FQ. Por el contrario, presentaron mayor incidencia de pancreatitis y de aspergilosisbroncopulmonar alergica al diagnostico y una funcion pulmonar mas conservada. La prueba delsudor fue negativa en 4 pacientes del grupo B, frente a uno del grupo A. El estudio genetico detecto31 mutaciones geneticas diferentes, de las que 10 solo se observaron en el grupo B. Conclusiones La FQ es una enfermedad tambien de diagnostico en la edad adulta. Los pacientesdiagnosticados en la edad adulta tienen una menor incidencia de afectacion digestiva, mejor funcionalismopulmonar y diferentes mutaciones geneticas; la prueba del sudor puede ser negativa oindeterminada y el pronostico, mas favorable.
Blood | 2009
Natalia Martínez-Pomar; Drahomíra Detková; Juan I. Aróstegui; Antonio Alvarez; Pere Soler-Palacín; Antonio Vidaller; Teresa Espanol; Almudena Sampalo; Javier de Gracia; Manuel Hernandez; Jordi Yagüe; Nuria Matamoros
To the editor: Sequence variants in TNFRSF13B gene, encoding the transmembrane activator and CAML interactor (TACI) protein, have been associated with common variable immunodeficiency (CVID) and IgA deficiency.[1][1][⇓][2]–[3][3] However, its detection among healthy persons and the absence of a
Archivos De Bronconeumologia | 2008
Ferran Morell; Leonardo Reyes; Gema Doménech; Javier de Gracia; Joaquim Majó; Jaume Ferrer
OBJECTIVE To determine the diagnostic yield achieved with the application of current recommendations for evaluating patients with suspected interstitial lung disease (ILD) and the procedures that must be applied to reach a definitive diagnosis. PATIENTS AND METHODS Over a 10-year period, 500 consecutive patients attending an ILD outpatient clinic who showed features of diffuse lung involvement were assessed with a single diagnostic protocol. Results were introduced in a dedicated database and diagnoses for idiopathic interstitial pneumonia were established according to a recent consensus classification. RESULTS A definitive diagnosis was reached in 427 (85%) patients: in 125 without invasive procedures and in 302 with invasive procedures. In 73 (14.6%) cases a definitive diagnosis was not reached, and patients were placed in the group of unclassifiable interstitial pneumonia. Idiopathic interstitial pneumonia was the predominant group with 193 (39%) patients. The main specific entities included sarcoidosis with 93 (19%) patients, usual interstitial pneumonia with 84 (17%) patients, and hypersensitivity pneumonitis with 75 (15%) patients. Thirty (6%) patients were diagnosed with an illness other than ILD (false ILD). In 332 patients, we performed a total of 433 invasive procedures: transbronchial biopsy in 252 (direct diagnostic yield, 38%, or if used also to exclude other specific diagnosis, 50%), bronchoalveolar lavage in 260 (yield, 5%), and open lung biopsy in 141 (yield, 93%). Hence, following the current diagnostic approach, a definitive diagnosis was established for 85% of patients, for 25% solely on clinical grounds and imaging criteria and for 60% on the basis of invasive procedures. Diagnosis by open lung biopsy was still required for 141 (28%) patients. CONCLUSIONS The diagnostic yield was high when the recommended study protocol was followed. A quarter of the diagnoses were reached with clinical criteria alone, but another quarter could only be made after open lung biopsy.
Annals of the American Thoracic Society | 2016
Miguel A. Martinez-Garcia; Montserrat Vendrell; Rosa Girón; Luis Máiz-Carro; David de la Rosa Carrillo; Javier de Gracia; Casilda Olveira
RATIONALE The clinical presentation and prognosis of non-cystic fibrosis bronchiectasis are both very heterogeneous. OBJECTIVES To identify different clinical phenotypes for non-cystic fibrosis bronchiectasis and their impact on prognosis. METHODS Using a standardized protocol, we conducted a multicenter observational cohort study at six Spanish centers with patients diagnosed with non-cystic fibrosis bronchiectasis before December 31, 2005, with a 5-year follow-up from the bronchiectasis diagnosis. A cluster analysis was used to classify the patients into homogeneous groups by means of significant variables corresponding to different aspects of bronchiectasis (clinical phenotypes): age, sex, body mass index, smoking habit, dyspnea, macroscopic appearance of sputum, number of exacerbations, chronic colonization with Pseudomonas aeruginosa, FEV1, number of pulmonary lobes affected, idiopathic bronchiectasis, and associated chronic obstructive pulmonary disease. Survival analysis (Kaplan-Meier method and log-rank test) was used to evaluate the comparative survival of the different subgroups. MEASUREMENTS AND MAIN RESULTS A total of 468 patients with a mean age of 63 (15.9) years were analyzed. Of these, 58% were females, 39.7% had idiopathic bronchiectasis, and 29.3% presented with chronic Pseudomonas aeruginosa colonization. Cluster analysis showed four clinical phenotypes: (1) younger women with mild disease, (2) older women with mild disease, (3) older patients with severe disease who had frequent exacerbations, and (4) older patients with severe disease who did not have frequent exacerbations. The follow-up period was 54 months, during which there were 95 deaths. Mortality was low in the first and second groups (3.9% and 7.6%, respectively) and high for the third (37%) and fourth (40.8%) groups. The third cluster had a higher proportion of respiratory deaths than the fourth (77.8% vs. 34.4%; P < 0.001). CONCLUSIONS Using cluster analysis, it is possible to separate patients with bronchiectasis into distinct clinical phenotypes with different prognoses.
BioDrugs | 2005
Cristina Ibáñez; Pilar Suñé; Ana Fierro; Santiago Rodríguez; Maite López; Antonio Alvarez; Javier de Gracia; José-Bruno Montoro
BackgroundIntravenous immunoglobulins (IVIG) have usually been administered for replacement therapy of humoral immunodeficiencies, but their use in treating other disorders with an immune pathogenesis is increasing. The exact mechanism of action by which IVIG are of benefit in such diseases is complex and only partly understood. One of the proposed mechanisms of action is the modulation of cytokine release.MethodsWe selected 29 patients with primary hypogammaglobulinemia (common variable immunodeficiency), receiving long-term substitutive therapy with IVIG, and 14 healthy blood donors as a control group. Blood samples were then taken before and 1 hour after finishing the IVIG infusion. Only one blood sample was obtained from the healthy controls. The cytokines studied were interleukin (IL)-1β, IL-1 receptor antagonist (IL-IRa), IL-2, IL-6, IL-8, tumor necrosis factor (TNF)-α, and interferon (IFN)-γ.ResultsPatients with primary hypogammaglobulinemia showed significantly higher serum levels of IL-6, IL-8, IL-IRa, and TNFα than healthy controls. IVIG infusion significantly increased serum concentration levels of IL-6, IL-8, IL-IRa, and TNFα. No significant variation was observed in serum levels of IL-β, IFNγ, or IL-2 after IVIG infusion. Age, IVIG commercial preparation, and IVIG dose did not influence cytokine serum levels. Moreover, a significant correlation was observed between serum level variations of IL-IRa and TNFα, as well as an associative trend between maximum changes in IL-6 and IL-8 concentrations.ConclusionsIVIG administration significantly alters the serum pattern of selected cytokines, which might explain, at least in part, the mechanism of action of IVIG in autoimmune or inflammatory disorders.
Respiratory Medicine | 2013
Mari C. de la Torre; Ignasi Bolíbar; Montse Vendrell; Javier de Gracia; Ester Vendrell; M. José Rodrigo; Xavier Boquet; Pablo Torrebadella; Joan-Carles Yébenes; Mateu Serra-Prat; Jordi Rello; Antoni Torres; Jordi Almirall
BACKGROUND A population-based case-control study was designed to assess changes of serum levels of immunoglobulins and IgG subclasses between infected and convalescent phase in community-acquired pneumonia (CAP). METHODS Over a 2-year period, all subjects who were >14 years of age living in the Maresme region (Barcelona, Spain) diagnosed of CAP were registered. Controls were healthy subjects selected from the municipal census. Prognostic factors were assessed and serum levels of total IgG, IgA, IgM, and IgG subclasses were measured at diagnosis and 1 month later (cases). RESULTS We studied 171 patients with CAP and 90 controls. All immunoglobulins were significantly lower in cases than in controls. At diagnosis, 42.7% of cases showed low levels of some immunologic parameter, mainly total IgG and IgG2. Low immunoglobulin levels at diagnosis were more frequent in patients requiring in-patient care and in those with pneumonia of other etiology than Streptococcus pneumoniae. In the convalescent phase, 26 (23.6%) patients normalized immunological levels. In 27 (24.5%) cases, some parameter with low levels persisted especially in patients with etiology of CAP other than S. pneumoniae. CONCLUSIONS Low serum levels of immunoglobulins particularly total IgG and IgG2 were a common finding in patients with CAP compared to healthy controls. Low immunoglobulin levels may be related to CAP prognosis and persisted in the convalescent phase in one-fourth of cases.
Archivos De Bronconeumologia | 2017
Casilda Olveira; Alicia Padilla; Miguel Ángel Martínez-García; David de la Rosa; Rosa-María Girón; Montserrat Vendrell; Luis Máiz; Luis Borderías; Eva Polverino; Eva Martínez-Moragón; Olga Rajas; Francisco Casas; Rosa Cordovilla; Javier de Gracia
INTRODUCTION Bronchiectasis is caused by many diseases. Establishing its etiology is important for clinical and prognostic reasons. The aim of this study was to evaluate the etiology of bronchiectasis in a large patient sample and its possible relationship with demographic, clinical or severity factors, and to analyze differences between idiopathic disease, post-infectious disease, and disease caused by other factors. METHODS Multicenter, cross-sectional study of the SEPAR Spanish Historical Registry (RHEBQ-SEPAR). Adult patients with bronchiectasis followed by pulmonologists were included prospectively. Etiological studies were based on guidelines and standardized diagnostic tests included in the register, which were later included in the SEPAR guidelines on bronchiectasis. RESULTS A total of 2,047 patients from 36 Spanish hospitals were analyzed. Mean age was 64.9years and 54.9% were women. Etiology was identified in 75.8% of cases (post-Infection: 30%; cystic fibrosis: 12.5%; immunodeficiencies: 9.4%; COPD: 7.8%; asthma: 5.4%; ciliary dyskinesia: 2.9%, and systemic diseases: 1.4%). The different etiologies presented different demographic, clinical, and microbiological factors. Post-infectious bronchiectasis and bronchiectasis caused by COPD and asthma were associated with an increased risk of poorer lung function. Patients with post-infectious bronchiectasis were older and were diagnosed later. Idiopathic bronchiectasis was more common in female non-smokers and was associated with better lung function, a higher body mass index, and a lower rate of Pseudomonas aeruginosa than bronchiectasis of known etiology. CONCLUSIONS The etiology of bronchiectasis was identified in a large proportion of patients included in the RHEBQ-SEPAR registry. Different phenotypes associated with different causes could be identified.