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Las Palmas de Gran Canaria, Spain

Martnez-Quintana E.,Complejo Hospitalario Universitario Insular Materno Infantil | Rodrguez-Gonzlez F.,Hospital Universitario Of Gran Canaria Dr Negrn
Molecular Syndromology

The RAS/MAPK pathway proteins with germline mutations in their respective genes are associated with some disorders such as Noonan, LEOPARD (LS), neurofibromatosis type 1, Costello and cardio-facio-cutaneous syndromes. LEOPARD is an acronym, mnemonic for the major manifestations of this disorder, characterized by multiple lentigines, electrocardiographic abnormalities, ocular hypertelorism, pulmonic stenosis, abnormal genitalia, retardation of growth, and sensorineural deafness. Though it is not included in the acronym, hypertrophic cardiomyopathy is the most frequent cardiac anomaly observed, representing a potentially life-threatening problem in these patients. PTPN11, RAF1 and BRAF are the genes known to be associated with LS, identifying molecular genetic testing of the 3 gene mutations in about 95% of affected individuals. PTPN11 mutations are the most frequently found. Eleven different missense PTPN11 mutations (Tyr279Cys/Ser, Ala461Thr, Gly464Ala, Thr468Met/Pro, Arg498Trp/Leu, Gln506Pro, and Gln510Glu/Pro) have been reported so far in LS, 2 of which (Tyr279Cys and Thr468Met) occur in about 65% of the cases. Here, we provide an overview of clinical aspects of this disorder, the molecular mechanisms underlying pathogenesis and major genotype-phenotype correlations. © 2012 S. Karger AG, Basel. Source

Rodrguez-Perez J.C.,Hospital Universitario Of Gran Canaria Dr Negrn | Garca-Bello M.A.,Hospital Universitario Of Gran Canaria Dr Negrn | Anabitarte-Prieto A.,Hospital Universitario Of Gran Canaria Dr Negrn | Companioni O.,Hospital Universitario Of Gran Canaria Dr Negrn | And 4 more authors.
Clinical and Experimental Hypertension

We evaluated the anti-hypertensive and anti-albuminuric effect of the angiotensin receptor blocker telmisartan alone and in combination with torasemide and amlodipine. Patients were hypertensive, both diabetics and non-diabetics with persistent microalbuminuria. Our primary endpoint was a change in microalbuminuria levels, while the secondary endpoints were changes in systolic blood pressure (SBP), diastolic blood pressure (DBP), serum creatinine levels, and glomerular filtration rate.After the 16-week treatment period, the patients significantly reduced microalbuminuria levels (76.4 ± 52.4 μg/min; p < 0.001), SBP (16.4 ± 8.7 mmHg; p < 0.001) and DBP (17.7 ± 5.9 mmHg; p < 0.001). Both diabetics and non-diabetics showed an identical pattern of significance with respect to the whole population. Systolic blood pressure, DBP, and microalbuminuria were significantly reduced as a consequence of therapy, both in diabetics and non-diabetics. © Informa Healthcare USA, Inc. Source

Perez-David E.,Hospital General Universitario Gregorio Maran | Arenal A.,Hospital General Universitario Gregorio Maran | Rubio-Guivernau J.L.,Technical University of Madrid | Del Castillo R.,Hospital General Universitario Gregorio Maran | And 11 more authors.
Journal of the American College of Cardiology

Objectives We performed noninvasive identification of post-infarction sustained monomorphic ventricular tachycardia (SMVT)related slow conduction channels (CC) by contrast-enhanced magnetic resonance imaging (ceMRI). Background Conduction channels identified by voltage mapping are the critical isthmuses of most SMVT. We hypothesized that CC are formed by heterogeneous tissue (HT) within the scar that can be detected by ceMRI. Methods We studied 18 consecutive VT patients (SMVT group) and 18 patients matched for age, sex, infarct location, and left ventricular ejection fraction (control group). We used ceMRI to quantify the infarct size and differentiate it into scar core and HT based on signal-intensity (SI) thresholds (>3 SD and 2 to 3 SD greater than remote normal myocardium, respectively). Consecutive left ventricle slices were analyzed to determine the presence of continuous corridors of HT (channels) in the scar. In the SMVT group, color-coded shells displaying ceMRI subendocardial SI were generated (3-dimensional SI mapping) and compared with endocardial voltage maps. Results No differences were observed between the 2 groups in myocardial, necrotic, or heterogeneous mass. The HT channels were more frequently observed in the SMVT group (88%) than in the control group (33%, p < 0.001). In the SMVT group, voltage mapping identified 26 CC in 17 of 18 patients. All CC corresponded, in location and orientation, to a similar channel detected by 3-dimensional SI mapping; 15 CC were related to 15 VT critical isthmuses. Conclusions SMVT substrate can be identified by ceMRI scar heterogeneity analysis. This information could help identify patients at risk of VT and facilitate VT ablation. © 2011 American College of Cardiology Foundation. Source

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