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Martnez-Quintana E.,Complejo Hospitalario Universitario Insular Materno Infantil | Rodrguez-Gonzlez F.,Hospital Universitario Of Gran Canaria Dr Negrn
Molecular Syndromology | Year: 2012

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


Martinez-Quintana E.,Complejo Hospitalario Universitario Insular Materno Infantil | Rodrguez-Gonzalez F.,Hospital Universitario Of Gran Canaria Dr Negrin
Molecular Syndromology | Year: 2011

LEOPARD syndrome (LS) is an acronym consisting of lentigines, electrocardiographic abnormalities, ocular hypertelorism, pulmonary valve stenosis, abnormal genitalia, retardation of growth and deafness. However, hypertrophic cardiomyopathy, the most frequent cause of sudden cardiac death in young people, is the most common cardiovascular manifestation in LS patients and the major determinant of mortality and morbidity. In approximately 85% of the patients with a definite diagnosis of LS, a missense mutation is found in the protein-tyrosine phosphatase non-receptor type 11 (PTPN11) gene located on chromosome 12q24.1. We report the case of an asymptomatic 17-year-old male with a missense mutation (c.836A>G) in exon 7 (Tyr279Cys) of the PTPN11 gene and a non-obstructive asymmetric anteroseptal hypertrophic cardiomyopathy. © 2012 S. Karger AG, Basel. Source


Isasi A.G.,Hospital Universitario Insular | Echeburua E.,University of the Basque Country | Liminana J.M.,Complejo Hospitalario Universitario Insular Materno Infantil | Gonzalez-Pinto A.,CIBERSAM
Journal of Affective Disorders | Year: 2010

Background: The aim of this research was to evaluate the short-term and long-term efficacy of a combined treatment (pharmacological + psychoeducational and cognitive-behavioral therapy) as compared with a standard pharmacological treatment in patients with refractory bipolar disorder. Method: 40 patients were randomly assigned to one of the following: Experimental group under combined treatment, and Control group under pharmacological treatment. We used an analysis of variance (ANOVA), including one or two factors, with repeated measures at different evaluation times: baseline, post-treatment, 6-month follow-up and 12-month follow-up. Results: We found significant between-group differences at all evaluation times after the treatment. The experimental group showed less hospitalizations than the control group in the 12-month evaluation (p = 0.007) as well as lower rates of depression and anxiety in the 6-month valuation (p = 0.015; p = 0.027) and the 12-month evaluation (p = 0.001; p < 0.001). Significant differences in relation to mania and inadaptation emerged in the post-treatment evaluation (p = 0.004; p < 0.001) and were sustained throughout the study (p = 0.002, p < 0.001; p < 0.001, p < 0.001). Analysis of within-group differences in the Experimental group showed reduction of mania (p < 0.001), depression (p = 0.001), anxiety (p = 0.003) and inadaptation (p < 0.001) throughout the study; while in the Control group, it showed increased numbers of hospitalizations (p = 0.016), as well as higher rates of mania (p = 0.030), anxiety (p < 0.001) and inadaptation (p = 0.003). Conclusions: Our results suggest that a combined treatment is effective in patients with refractory bipolar disorder. Suggestions for future research are commented on. © 2009 Elsevier B.V. All rights reserved. Source


Gonzalez Isasi A.,Hospital Universitario Insular | Echeburua E.,University of the Basque Country | Liminana J.M.,Complejo Hospitalario Universitario Insular Materno Infantil | Gonzalez-Pinto A.,CIBERSAM
European Psychiatry | Year: 2014

Objective: The aim of this research, which represents an additional and longer follow-up to a previous trial, was to evaluate a 5-year follow-up study of a combined treatment (pharmacological. +. psychoeducational and cognitive-behavioral therapy) as compared with a standard pharmacological treatment in patients with refractory bipolar disorder. Method: Forty patients were randomly assigned to either an Experimental group-under combined treatment-or a Control group-under pharmacological treatment. Data were analyzed by analysis of variance (ANOVA), with repeated measures at different evaluation time points. Results: Between-group differences were significant at all evaluation time points after treatment. Experimental group had less hospitalization events than Control group in the 12-month evaluation (P= 0.015). The Experimental group showed lower depression and anxiety in the 6-month (P= 0.006; P= 0.019), 12-month (P = 0.001; P < 0.001) and 5-year (P < 0.001, P < 0.001) evaluation time points. Significant differences emerged in mania and misadjustment already in the post-treatment evaluation (P = 0.009; P < 0.001) and were sustained throughout the study (6-month: P= 0.006, P < 0.001; 12-month: P < 0.001, P < 0.001; 5-year: P= 0.004, P < 0.001). After 5-year follow-up, 88.9% of patients in the Control group and 20% of patients in the Experimental group showed persistent affective symptoms and/or difficulties in social-occupational functioning. Conclusions: A combined therapy is long-term effective for patients with refractory bipolar disorder. Suggestions for future research are commented. © 2012. Source


Martinez-Quintana E.,Complejo Hospitalario Universitario Insular Materno Infantil | Rodriguez-Gonzalez F.,Complejo Hospitalario Universitario Insular Materno Infantil
Molecular Syndromology | Year: 2013

Mucopolysaccharidosis type II (MPS II), also known as Hunter syndrome, is a rare, X-linked disease caused by a deficiency of the lysosomal enzyme iduronate-2-sulfatase, which catalyses a step in the catabolism of glycosaminoglycans resulting in accumulation of heparan and dermatan sulfate in many organs and tissues. This accumulation favors the appearance of neurologic involvement, severe airway obstruction, skeletal deformities, and cardiomyopathy, especially mitral and aortic valve regurgitation. In severe cases, obstructive airway disease and cardiac failure due to valvular dysfunction are the most common causes of death within the second decade of life. However, in mild cases, intelligence remains normal, stature is almost normal and death usually occurs due to cardiac failure in the fourth decade of life. We report the presentation, diagnosis, management, and outcome of 2 siblings with MPS II and the G374sp mutation at the nucleotide c.1246 of the gene encoding for the iduronate-2-sulfatase. Copyright © 2013 S. Karger AG, Basel. Source

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