13 research outputs found

    Testing the efficacy of INtegral Cognitive REMediation (INCREM) in major depressive disorder : study protocol for a randomized clinical trial

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    Given the limitation of pharmacological treatments to treat cognitive symptoms in patients with Major Depressive Disorder (MDD), cognitive remediation programs has been proposed as a possible procognitive intervention but findings are not conclusive. This study investigates the efficacy of an INtegral Cognitive REMediation (INCREM) that includes a combination of a Functional Remediation (FR) strategy plus a Computerized Cognitive Training (CCT) in order to improve not only cognitive performance but also the psychosocial functioning and the quality of life. A single blind randomized controlled clinical trial in 81 patients with a diagnosis of MDD in clinical remission or in partial remission. Participants will be randomized to one of three conditions: INCREM (FR + CCT), Psychoeducation plus online games and Treatment As Usual (TAU). Intervention will consist in 12 group sessions, of approximately 110 min once a week. The primary outcome measure will be % of change in psychosocial functioning after treatment measured by the Functional Assessment Short Test (FAST); additionally, number of sick leaves and daily activities will also be recorded as pragmatic outcomes. To our knowledge, this is the first randomized controlled clinical trial using a combination of two different approaches (FR + CCT) to treat the present cognitive deficits and to promote their improvements into a better psychosocial functioning. Clinical Trials . Date registered 10th of August 2018 and last updated 24th August 2018

    Testing the efficacy of INtegral Cognitive REMediation (INCREM) in major depressive disorder: study protocol for a randomized clinical trial

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    Background: Given the limitation of pharmacological treatments to treat cognitive symptoms in patients with Major Depressive Disorder (MDD), cognitive remediation programs has been proposed as a possible procognitive intervention but findings are not conclusive. This study investigates the efficacy of an INtegral Cognitive REMediation (INCREM) that includes a combination of a Functional Remediation (FR) strategy plus a Computerized Cognitive Training (CCT) in order to improve not only cognitive performance but also the psychosocial functioning and the quality of life. Methods: A single blind randomized controlled clinical trial in 81 patients with a diagnosis of MDD in clinical remission or in partial remission. Participants will be randomized to one of three conditions: INCREM (FR + CCT), Psychoeducation plus online games and Treatment As Usual (TAU). Intervention will consist in 12 group sessions, of approximately 110 min once a week. The primary outcome measure will be % of change in psychosocial functioning after treatment measured by the Functional Assessment Short Test (FAST); additionally, number of sick leaves and daily activities will also be recorded as pragmatic outcomes. Discussion: To our knowledge, this is the first randomized controlled clinical trial using a combination of two different approaches (FR + CCT) to treat the present cognitive deficits and to promote their improvements into a better psychosocial functioning. Trial registration: Clinical Trials NCT03624621 . Date registered 10th of August 2018 and last updated 24th August 2018

    CIBERER : Spanish national network for research on rare diseases: A highly productive collaborative initiative

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    Altres ajuts: Instituto de Salud Carlos III (ISCIII); Ministerio de Ciencia e Innovación.CIBER (Center for Biomedical Network Research; Centro de Investigación Biomédica En Red) is a public national consortium created in 2006 under the umbrella of the Spanish National Institute of Health Carlos III (ISCIII). This innovative research structure comprises 11 different specific areas dedicated to the main public health priorities in the National Health System. CIBERER, the thematic area of CIBER focused on rare diseases (RDs) currently consists of 75 research groups belonging to universities, research centers, and hospitals of the entire country. CIBERER's mission is to be a center prioritizing and favoring collaboration and cooperation between biomedical and clinical research groups, with special emphasis on the aspects of genetic, molecular, biochemical, and cellular research of RDs. This research is the basis for providing new tools for the diagnosis and therapy of low-prevalence diseases, in line with the International Rare Diseases Research Consortium (IRDiRC) objectives, thus favoring translational research between the scientific environment of the laboratory and the clinical setting of health centers. In this article, we intend to review CIBERER's 15-year journey and summarize the main results obtained in terms of internationalization, scientific production, contributions toward the discovery of new therapies and novel genes associated to diseases, cooperation with patients' associations and many other topics related to RD research

    New Methodology for Shoreline Extraction Using Optical and Radar (SAR) Satellite Imagery

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    Coastal environments are dynamic ecosystems, constantly subject to erosion/accretion processes. Erosional trends have unfortunately been intensifying for decades due to anthropic factors and an accelerated sea level rise might exacerbate the problem. It is crucial to preserve these areas for safeguarding not only coastal ecosystems and cultural heritage, but also the population living there. In this context, monitoring coastal areas is essential and geomatics techniques, especially satellite remote sensing imagery, might prove very advantageous. In this paper, a semi-automatic methodology to extract shorelines from SAR (Synthetic Aperture Radar) Sentinel-1 and optical Sentinel-2 satellite images was developed. An experimental algorithm, called J-Net Dynamic, was tested in two pilot sites. The semi-automatic methodology was validated with GNSS (Global Navigation Satellite System) reference shorelines and demonstrated to be a powerful tool for a robust extraction of the shoreline both from optical and SAR images. The experimental algorithm was able to extract the shoreline closer to the reference with SAR images on the natural beach of Castelldefels and it was demonstrated to be less sensitive to speckle effects than the commonly used Canny Edge Detector. Using the SAR images of the urban beach of Somorrostro, the Canny detector was not able to extract the shoreline, while the new algorithm could do it but with low accuracy because of the noise induced by man-made structures. For further investigation, the Sentinel-2-extracted shorelines were also compared to the ones extracted by a state-of-the-art tool, CoastSat, in the two beaches using both automatic and manual thresholds. The mean errors obtained with J-Net Dynamic were generally higher than the ones from CoastSat using the manual threshold but lower if using the automatic one. The proposed methodology including the J-Net Dynamic algorithm proves to extract the shorelines closer to the reference in most of the cases and offers the great advantage of being able to work with both optical and SAR images. This feature could allow to reduce the time lag between satellite derived shorelines paving the way to an enhanced monitoring and management of coastal areas

    Análisis constructivo de la Capilla de La Cadellada (1926-1944), Oviedo = Cadellada Chapel, Oviedo, Spain. Analysis of Construction (1926-1944)

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    ResumenLa capilla del Hospital Universitario Central de Asturias es un ejemplo reciente de edificio con importantes connotaciones históricas que no debemos abandonar a su suerte. Se proyecta en torno a 1926 como edificio de culto perteneciente al Hospital Psiquiátrico de Asturias, permaneciendo en funcionamiento hasta su trasferencia a la Consejería de Salud del Principado de Asturias en 2005. El Hospital Psiquiátrico, de clara inspiración centroeuropea, había sido concebido como un modelo arquitectónico revolucionario dentro del ámbito sanitario, que giraba en torno a la terapia ocupacional, a la distribución funcional en múltiples pabellones y a los espacios ajardinados. Del antiguo hospital, de estilo neorrománico simplificado, tan sólo se conservan el pabellón número 13 que ha sido rehabilitado y será destinado a la fundación de investigación biosanitaria del Principado, y esta Capilla, el pabellón número 4, que se caracteriza por el mural interior pintado en 1963 en la cabecera plana por Paulino Vicente alusivo a la Última Cena.AbstractThe chapel in the Central University Hospital of Asturias is a recent example of a building with significant historical connotations that should not be allowed to perish. Designedaround 1926 as a place of worship in the Asturias Psychiatric Hospital, it was in use until the hospital was transferred to thePrincipality of Asturias’s Regional Department of Health in 2005. The Psychiatric Hospital was clearly inspired by eastern  European ideals. It was designed as a revolutionary model inhealth care architecture that revolved around occupational therapy, functionally distributed across a multi-pavilion, landscaped complex. Two of the original pavilions comprisingthe simplified neo-Romanesque hospital are still standing.One, pavilion 13, has been earmarked to house the principality’s biohealth research foundation, while the other,pavilion 4, is the former chapel whose most prominent characteristic is an indoor mural depicting the Last Supper,painted on the flat chevet by Paulino Vicente in 1963

    Clinical and genetic characterization of a cohort of proteinuric patients with biallelic CUBN variants

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    International audienceABSTRACT Background Proteinuria is a well-known risk factor for progressive kidney impairment. Recently, C-terminal cubilin (CUBN) variants have been associated with isolated proteinuria without progression of kidney disease. Methods Genetic testing of 347 families with proteinuria of suspected monogenic cause was performed by next-generation sequencing of a custom-designed kidney disease gene panel. Families with CUBN biallelic proteinuria-causing variants were studied at the clinical, genetic, laboratory and pathologic levels. Results Twelve families (15 patients) bearing homozygous or compound heterozygous proteinuria-causing variants in the C-terminal CUBN gene were identified, representing 3.5% of the total cohort. We identified 14 different sequence variants, five of which were novel. The median age at diagnosis of proteinuria was 4 years (range 9 months to 44 years), and in most cases proteinuria was detected incidentally. Thirteen patients had moderate to severe proteinuria at diagnosis without nephrotic syndrome. These patients showed lack of response to angiotensin-converting enzyme inhibitor (ACEi) and angiotensin receptor blocker (ARB) treatment, normal kidney biopsy and preservation of normal kidney function over time. The two remaining patients presented a more severe phenotype, likely caused by associated comorbidities. Conclusions Identification of C-terminal pathogenic CUBN variants is diagnostic of an entity characterized by glomerular proteinuria, normal kidney histology and lack of response to ACEi/ARB treatment. This study adds evidence and increases awareness about albuminuria caused by C-terminal variants in the CUBN gene, which is a benign condition usually diagnosed in childhood with preserved renal function until adulthood

    High prevalence of variants in skeletal dysplasia associated genes in individuals with short stature and minor skeletal anomalies

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    [EN]Objective: Next generation sequencing (NGS) has expanded the diagnostic paradigm turning the focus to the growth plate. The aim of the study was to determine the prevalence of variants in genes implicated in skeletal dysplasias in probands with short stature and mild skeletal anomalies. Design: Clinical and radiological data were collected from 108 probands with short stature and mild skeletal anomalies. Methods: A customized skeletal dysplasia NGS panel was performed. Variants were classified using ACMG recommendations and Sherloc. Anthropometric measurements and skeletal anomalies were subsequently compared in those with or without an identified genetic defect. Results: Heterozygous variants were identified in 21/108 probands (19.4%). Variants were most frequently identified in ACAN (n = 10) and IHH (n = 7) whilst one variant was detected in COL2A1, CREBBP, EXT1, and PTPN11. Statistically significant differences (P < 0.05) were observed for sitting height/height (SH/H) ratio, SH/H ratio standard deviation score (SDS), and the SH/H ratio SDS >1 in those with an identified variant compared to those without. Conclusions: A molecular defect was elucidated in a fifth of patients. Thus, the prevalence of mild forms of skeletal dysplasias is relatively high in individuals with short stature and mild skeletal anomalies, with variants in ACAN and IHH accounting for 81% of the cases. An elevated SH/H ratio appears to be associated with a greater probability in detecting a variant, but no other clinical or radiological feature has been found determinant to finding a genetic cause. Currently, we cannot perform extensive molecular studies in all short stature individuals so detailed clinical and radiological phenotyping may orientate which are the candidate patients to obtain worthwhile results. In addition, detailed phenotyping of probands and family members will often aid variant classification

    Las personas con autismo también leemos

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    El objetivo principal de este proyecto es dotar a los alumnos autistas de una herramienta que favorezca su comunicación, y por tanto, su calidad de vida. La introducción al lenguaje escrito y la lectura, dota a los alumnos de una destreza que les permite acceder a la información y a la cultura, más allá de lo que les proporciona la comunicación oral de su entorno más próximo. La lectura es más fácil de procesar, ya que permite un procesamiento visual, tiene un carácter estático y es un código universal. Por el contrario, el lenguaje oral es mucho más difícil para este tipo de alumnos, entre otras cosas porque sufren tensión interpersonal. Otros objetivos son aumentar el vocabulario, aprender a descomponer las palabras en sílabas y letras, representar visualmente las palabras de una frase, crear interés y gusto por la asociación de palabras y dibujos, construir frases sencillas y representar visualmente las palabras de una frase y servir así de apoyo a la corrección morfo-sintáctica del lenguaje oral. La metodología es común en las seis aulas, esto es, primero se evalúa el estado de cada alumno para desarrollar los ejercicios más acordes a su nivel. Los contenidos deben adaptarse a los intereses y a las motivaciones de los chicos y para conseguirlo se implican todos los profesionales, profesores, logopedas, auxiliares, tutores y psicólogos. Se utilizan los entornos naturales y externos a las aulas, como el comedor o el patio, para seguir el aprendizaje, así se transmite de forma más global y general. Además se tienen sesiones individuales y casi diarias con los alumnos, y en algunos casos la lectura se convierte en tarea grupal, así aprenden los unos de los otros. La evaluación consiste en analizar los registros generados diariamente por los alumnos y mejorar en aquellos puntos en los que no se logran los objetivos planteados. Los profesores mantienen reuniones semanales para analizar la evolución de cada niño; y, además, se realizan dos reuniones anuales con todos los profesionales del centro para mantener los mismos criterios sobre como enseñar y transmitir la lectura. Se adjunta como anexos los seminarios de lectura impartidos por Rosa Ventoso; los registros utilizados para trabajar las lecturas; ejemplos de reuniones de coordinación semanal del aula; actas de reuniones internas del grupo; y ejemplos de material de lectura adaptados..Madrid (Comunidad Autónoma). Consejería de Educación. Dirección General de Mejora de la Calidad de la EnseñanzaMadridMadrid (Comunidad Autónoma). Subdirección General de Formación del Profesorado. CRIF Las Acacias; General Ricardos 179 - 28025 Madrid; Tel. + 34915250893ES

    Testing the efficacy of INtegral Cognitive REMediation (INCREM) in major depressive disorder : study protocol for a randomized clinical trial

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    Given the limitation of pharmacological treatments to treat cognitive symptoms in patients with Major Depressive Disorder (MDD), cognitive remediation programs has been proposed as a possible procognitive intervention but findings are not conclusive. This study investigates the efficacy of an INtegral Cognitive REMediation (INCREM) that includes a combination of a Functional Remediation (FR) strategy plus a Computerized Cognitive Training (CCT) in order to improve not only cognitive performance but also the psychosocial functioning and the quality of life. A single blind randomized controlled clinical trial in 81 patients with a diagnosis of MDD in clinical remission or in partial remission. Participants will be randomized to one of three conditions: INCREM (FR + CCT), Psychoeducation plus online games and Treatment As Usual (TAU). Intervention will consist in 12 group sessions, of approximately 110 min once a week. The primary outcome measure will be % of change in psychosocial functioning after treatment measured by the Functional Assessment Short Test (FAST); additionally, number of sick leaves and daily activities will also be recorded as pragmatic outcomes. To our knowledge, this is the first randomized controlled clinical trial using a combination of two different approaches (FR + CCT) to treat the present cognitive deficits and to promote their improvements into a better psychosocial functioning. Clinical Trials . Date registered 10th of August 2018 and last updated 24th August 2018
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