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Rius M.,Unitat de Biologia Cellular i Gentica Mdica | Obradors A.,Autonomous University of Barcelona | Daina G.,Unitat de Biologia Cellular i Gentica Mdica | Ramos L.,Unitat de Biologia Cellular i Gentica Mdica | And 7 more authors.
Fertility and Sterility | Year: 2011

Objective: To apply a comprehensive chromosomal screening through short comparative genomic hybridization (CGH) in the preimplantation genetic diagnosis (PGD) of translocations. Design: Clinical research study. Setting: A PGD laboratory and two IVF clinics. Patient(s): Three Robertsonian translocation carriers, two reciprocal translocation carriers, and a double-translocation carrier. Intervention(s): After using the short-CGH approach in the reanalysis of two unbalanced embryos, discarded from a PGD for a reciprocal translocation carrier, the same method was applied in the PGD of day-3 embryos of translocation carriers. Main Outcome Measure(s): Ability of short CGH to detect partial chromosomal abnormalities in unbalanced embryos, translocation segregation proportions, and proportion of embryos carrying chromosomal abnormalities not related to the translocations. Result(s): The short-CGH technique detected errors resulting from the meiotic segregation of the chromosomes involved in the translocations and other abnormalities affecting the remaining chromosomes. Alternate segregation was detected most frequently among Robertsonian translocation cases, whereas unbalanced chromosome segregations were found predominantly in reciprocal ones. Aneuploidy and structural chromosome errors were found more frequently in Robertsonian than in reciprocal translocation carriers. Application of short-CGH PGD achieved pregnancy in two cases. Conclusion(s): Short CGH is a reliable approach for PGD of translocations, as it is capable of detecting partial chromosome errors caused by unbalanced segregations simultaneously to the screening of all chromosomes, and it may improve the results after PGD for translocation carriers. © 2011 by American Society for Reproductive Medicine.

Carles J.,Hospital Universitari Vall dHebron | Chirivella I.,Hospital Clinico Universitario Of Valencia | Climent M.A.,Fundacion Instituto Valenciano Of Oncologia | Gallardo E.,Corporacio Sanitaria Parc Tauli | And 4 more authors.
Cancer and Metastasis Reviews | Year: 2012

The approval and use of molecular targeted agents for the first-line treatment of metastatic renal cell carcinoma (mRCC) has substantially improved the clinical outcome of patients. Although eventually all patients progress, hopes have been renewed with the approval of everolimus for patients who progress on or after treatment with tyrosine kinase inhibitors. In order to improve the prognosis for these patients, it is imperative to understand the reasons why patients with mRCC fail on first-line treatment. Currently, progression is assessed on the basis of the Response Evaluation Criteria in Solid Tumors, but it is known that targeted agents tend to cause disease stabilization rather than a significant decrease in tumor mass. Therefore, it may be time to evaluate the need to incorporate additional diagnostic methods in the assessment of disease response. Equally important is the study of the factors that determine the success or failure of second-line therapy in order to increase the chances of delivering the most effective and personalized therapy possible. In this article, we review the evidence related to the evaluation of patients with mRCC who fail on first-line treatment with targeted agents, including the systems to assess response and progression, the prognostic factors, the prognostic models that have been created based on these factors, and what is known about predictive biomarkers of disease outcome. © 2012 Springer Science+Business Media, LLC.

Gasch O.,Hospital Universitari Of Bellvitge | Camoez M.,Hospital Universitari Of Bellvitge | Dominguez M. A.,Hospital Universitari Of Bellvitge | Padilla B.,Hospital Gregorio Marano n | And 13 more authors.
Journal of Antimicrobial Chemotherapy | Year: 2013

Objectives: A high proportion of patients with methicillin-resistant Staphylococcus aureus (MRSA) bacteraemia die within a few days of the onset of infection. However, predictive factors for early mortality (EM) have barely been examined. The aim of this study was to determine the predictive factors for EM in patients with MRSA bacteraemia. Methods: All episodes of MRSA bacteraemia were prospectively followed in 21 Spanish hospitals from June 2008 to December 2009. Epidemiology, clinical data, therapy and outcome were recorded. All MRSA strains were analysed in a central laboratory. Mortality was defined as death from any cause occurring in the 30 days after the onset of MRSA bacteraemia. EM was defined as patients who died within the first 2 days, and late mortality (LM) for patients who died after this period. Multivariate analyses were performed by using logistic regression models. Results: A total of 579 episodes were recorded. Mortality was observed in 179 patients (31%): it was early in 49 (8.5%) patients and late in 130 (22.5%). Independent risk factors for EM were [OR (95% CI)] initial Pitt score >3 [3.99 (1.72-3.24)], previous rapid fatal disease [3.67 (1.32-10.24)], source of infection lower respiratory tract or unknown [3.76 (1.31-10.83) and 2.83 (1.11-7.21)], non-nosocomial acquisition [2.59 (1.16-5.77)] and inappropriate initial antibiotic therapy [3.59 (1.63-7.89)]. When predictive factors for EM and LM were compared, inappropriate initial antibiotic therapy was the only distinctive predictor of EM, while endocarditis and lower respiratory tract sources both predicted LM. Conclusions: In our large cohort of patients several factors were related to EM, but the only distinctive predictor of EM was inappropriate initial antibiotic therapy©The Author 2013. Published by Oxford University Press on behalf of the British Society for Antimicrobial Chemotherapy. All rights reserved.

Albacar G.,Rovira i Virgili University | Sans T.,Clinical Laboratories | Martin-Santos R.,Neuropsychopharmacology Program | Garcia-Esteve L.,Neuropsychopharmacology Program | And 9 more authors.
Journal of Affective Disorders | Year: 2011

Context: Iron deficiency is the most common nutritional problem experienced by childbearing women, and postpartum depression (PPD) is the most common psychiatric disorder seen during the first year after delivery. The possible link between iron deficiency and PPD is not clear. Objective: To evaluate whether iron status 48 h after delivery was associated with PPD. Our hypothesis was that iron deficiency would be associated with PPD. Design: This was a prospective cohort study of depression-free women studied in the postpartum period. Setting: Women who give birth at obstetric units in several general hospitals in Spain. Participants: A subsample of 729 women was included in the present study after exclusion of women with high C-reactive protein (CRP) and other diseases known to interfere with iron metabolism. Main outcome measures: We evaluated depressive symptoms at 48 h, 8 weeks and 32 weeks postpartum and used a diagnostic interview to confirm the diagnosis of major depression. A blood sample obtained 48 h after delivery was used to measure the following iron storage parameters: ferritin, transferrin (Tf), free iron and transferrin saturation (TfS) and the inflammatory marker CCRP. Results: Overall, the women in the study had low iron concentrations (8.8 ± 6.9 μmol/L) and low TfS (12.6 ± 9.6%) but normal ferritin and Tf concentrations. A total of 65 women (9%) developed PPD during the 32 week postpartum period; these women also had a lower ferritin concentration (15.4 ± 12.7 μg/L vs. 21.6 ± 13.5 μg/L, P = 0.002). A strong association between ferritin and PPD was observed (odds ratio = 3.73, 95% CI: 1.84-7.56; P = 0.0001 for ferritin cutoff value of 7.26 μg/L). In our study, ferritin concentrations have a high specificity but low sensitivity in predicting PPD. Conclusions: These findings support the role of iron in the etiology of PPD and the use of ferritin as a marker of iron deficiency in the postpartum period. We believe that this topic deserves further investigation. © 2010 Elsevier B.V. All rights reserved.

Pons R.,National and Kapodistrian University of Athens | Cuenca-Leon E.,Hospital Universitari Vall dHebron | Miravet E.,Hospital Universitari Son Dureta | Pons M.,Hospital Universitari Son Dureta | And 3 more authors.
European Journal of Paediatric Neurology | Year: 2012

Paroxysmal non-kinesigenic dyskinesia (PNKD) is an autosomal dominant disorder characterized by attacks of dystonic or choreathetotic movements precipitated by stress, fatigue, coffee, alcohol or menstruation. In this report we present two families with PNKD of Southern European origin carrying a PNKD recurrent mutation. Incomplete penetrance and intrafamilial variability was detected in both families. Treatment with valproic acid and levetiracetam provided favorable response. © 2011 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.

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