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Canadas-Garre M.,Institute Investigacion Biosanitaria Of Granada | Fernandez-Escamilla A.,CSIC - Experimental Station of El Zaidin | Fernandez-Ballester G.,University Miguel Hernandez | Becerra-Massare P.,UGC Anatomia Patologica | And 3 more authors.
Endocrine Practice | Year: 2014

Objective: BRAF mutations are the most common genetic alteration found in papillary thyroid carcinoma (PTC). Approximately, 90% correspond to BRAFV600E, although other less common BRAF mutations have been described. The aim of this study was to describe a new mutation on BRAF gene discovered on the previous thyroid cytology of a patient diagnosed with a follicular variant of PTC (FV-PTC). Methods: The mutation was identified by independent cloning of the 2 alleles and direct sequencing in the previous cytology and tumor tissue samples from a patient diagnosed with FV-PTC. To elucidate the effect of the mutation on the structure and hence on the activating mechanism of the protein, the structures of BRAFI599Ins, BRAFT599Ins, BRAF V599Ins and BRAFV600E were modeled by using the reconstructed wild-type BRAF (BRAFWT) crystal structure. Results: The novel mutation in BRAF consisted in the in-frame insertion of 3 nucleotides (TAA) after nucleotide 1795, resulting in the incorporation of an extra isoleucine residue at position 599 (BRAFI599Ins) of the protein. The structural comparison of BRAFI599Ins, BRAFT599Ins, BRAFV599Ins with BRAF WT, and BRAFV600E models revealed that the overall shape of the kinase was conserved in the protein produced by this novel mutation, except for the displacement of the activation loop (A-loop), as a direct consequence of the increase in loop size, and the exposition of 1 of the 2 residues involved in BRAF activation (T599), probably facilitating its phosphorylation. Conclusion: BRAFI599Ins mutation constitutes a new BRAF mutation affecting the length of the A-loop, which most likely facilitates BRAF activation by altering the A-loop conformation. © 2014 AACE. Source


Rodriguez Martinez de Llano S.,Centro Oncologico Of Galicia | Jimenez-Vicioso A.,Complutense University of Madrid | Mahmood S.,Novartis | Carreras-Delgado J.L.,Servicio de Medicina Nuclear
Revista Espanola de Medicina Nuclear | Year: 2010

We performed a retrospective study to evaluate the accuracy, diagnostic validity, and clinical impact of 18F-FDG PET in the management of recurrent and metastatic disease in patients with Renal Cell Carcinoma (RCC) from our database. 18F-FDG PET studies were identified from 58 patients that matched our criteria for inclusion in the study. Results were confirmed with histopathological findings, clinical follow-up time (at least 12 months), and/ or conventional imaging methods (CIM). A sensitivity of 80.56%, specificity 86.36%, diagnostic accuracy 58.7%, positive predictive value 90.63%, and a negative predictive value of 73.08% were observed. The clinical impact was high in 25 cases (43%) and we found no impact in only 10 studies (17.2%). We concluded that 18F-FDG PET was useful and had a high clinical impact in the management of recurrent and metastatic RCC. From our data, it seemed that a positive PET study was more helpful to the physician than a negative study. © 2009 Elsevier España, S.L. y SEMNIM. Source


Mahia-Casado P.,Servicio de Cardiologia | Garcia-Orta R.,Servicio de Cardiologia | Gomez De Diego J.J.,Servicio de Cardiologia | Barba-Cosials J.,University of Navarra | And 2 more authors.
Revista Espanola de Cardiologia | Year: 2015

In this article, we review the contributions of the most important imaging techniques used in cardiology, reported in 2014. Echocardiography remains the cornerstone for diagnosing and monitoring valvular heart disease, and there has been a continuing effort to improve quantification of this condition and obtain prognostic parameters for follow-up. The study of regional myocardial function is anchored in the diagnosis of subclinical ventricular dysfunction, and 3-dimensional transesophageal echocardiography has become the perfect ally in interventional procedures for structural heart disease. Cardiac magnetic resonance imaging and cardiac computed tomography are the focus of most publications on cardiac imaging in ischemic heart disease, reflecting their consolidated use in clinical practice. Nuclear medicine excels in the study of myocardial viability after interventional treatment of acute coronary syndromes and its performance is validated in the diagnosis of ischemic heart disease. © 2014 Sociedad Española de Cardiología. Source


Rodrigo-Rincon I.,Investigacion y Gestion del Conocimiento | Reyes-Perez M.,Servicio de Medicina Preventiva y Gestion de la Calidad | Martinez-Lozano M.E.,Servicio de Medicina Nuclear
Revista Espanola de Medicina Nuclear e Imagen Molecular | Year: 2014

Objective: To know the cutoff point at which in-house Nuclear Medicine Department (MND) customers consider that the quality of service is good (personalized cutoff). Material and method: We conducted a survey of the professionals who had requested at least 5 tests to the Nuclear Medicine Department. A total of 71 doctors responded (response rate: 30%). A question was added to the questionnaire for the user to establish a cutoff point for which they would consider the quality of service as good. The quality non-conformities, areas of improvement and strong points of the six questions measuring the quality of service (Likert scale 0 to 10) were compared with two different thresholds: personalized cutoff and one proposed by the service itself a priori. Test statistics: binomial and Student's t-test for paired data. Results: A cutoff value of 7 was proposed by the service as a reference while 68.1% of respondents suggested a cutoff above 7 points (mean 7.9 points). The 6 elements of perceived quality were considered strong points with the cutoff proposed by the MND, while there were 3 detected with the personalized threshold. Thirteen percent of the answers were nonconformities with the service cutoff versus 19.2% with the personalized one, the differences being statistically significant (difference 95% CI 6.44%:0,83-12.06). Conclusions: The final image of the perceived quality of an in-house customer is different when using the cutoff established by the Department versus the personalized cutoff given by the respondent. © 2013 Elsevier España, S.L. and SEMNIM. Source


Ramos-Font C.,Servicio de Medicina Nuclear | Gomez Rio M.,Hospital Universitario Virgen Of Las Nieves | Rodriguez-Fernandez A.,Hospital Universitario Virgen Of Las Nieves | Sanchez Sanchez R.,Hospital Universitario Virgen Of Las Nieves | Llamas Elvira J.M.,Hospital Universitario Virgen Of Las Nieves
Revista Espanola de Medicina Nuclear | Year: 2011

Background: Gallbladder carcinoma is a neoplasm having a poor prognosis in which the role of the positron emission tomography with 18F-fluordeoxyglucose as a diagnostic tool, although of possible usefulness, has not been well-defined. Methods/design: It is a prospective cohort of patients with radiologically malignant suspicious gallbladder lesions. A staging diagnostic presurgical FDG-PET study was carried out in each patient using both dedicated PET and multimodality PET-CT scanners. Diagnostic accuracy parameters were calculated from the results of PET imaging and were correlated with the condition and/or the clinical course of the patients. The clinical impact of its implementation in the diagnosis of gallbladder carcinoma was also analyzed. Results: A total of 42 patients were recruited (22 malignant lesions, 20 benign). Overall diagnostic accuracy was 83.33% for the diagnosis of the primary lesion, 88.89% for the evaluation of lymph node involvement and 85.1% for the evaluation of metastatic disease. Mean SUVmax in malignant gallbladder lesions was 6.14 ± 2.89. ROC curve showed a cut-off value of 3.65 in the SUVmax for malignancy. Accuracy of PET studies alone (n = 21) was slightly lower than that of the PET/CT (n = 21). FDG-PET changed the management of 14.8% of the population due to the identification of unsuspected metastatic disease. Comments: FDG-PET accurately diagnoses malignancy or benignity of suspicious gallbladder lesions, with the addition of its capacity to identify unsuspected metastatic disease. PET-CT improves the diagnostic accuracy of the procedure, due to the metabolic-structural complementarity of their information. The SUVmax has a complementary value added to the visual analysis. © 2010 Elsevier España, S.L. y SEMNIM. Source

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