25 research outputs found

    Analysis of the role of AMPK activity as the possible cause of the longevity phenotype of the sul-2 mutants

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    Aging is a biological process caused by cell impairment that increase susceptibility to diseases and death. Some of these diseases, such as Alzheimer or Parkinson, are originated by loss of proteostasis and the generation of protein aggregates. Sulfated steroid hormones are of great importance in the maintenance of proteostasis, and by inhibiting the steroid sulfatase enzyme, it is possible to generate a reservoir of sulfated hormones that prevents cells from generating protein aggregates. Loss of function of the steroid sulfatase sul-2 gene has been proved to increase longevity and to ameliorate protein aggregates diseases in Caenorhabditis elegans. To explain the metabolic pathways involved in this process, two RNAseq have been performed with sul-2 mutants and the resulting data were uploaded to WormExp, where it was found that sul-2 mutants share expression patterns with AMPK activation mutants (Pérez-Jiménez et al. (2021)). AMPK activation mutants are also long-lived (Burkewizt et al. 2016), which suggests that AMPK activity could cause the sul-2 increased-longevity phenotype. To improve the understanding of this subject, we have backcrossed three times AMPK deficient hermaphrodite aak2-(ok524) with N2 males obtaining a deficient mutant with a known background. In the following experiments we will try to confirm the similar expression pattern of AMPK and sul-2 mutants and then will be evaluated the role of AMPK in sul-2 mutant longevity and proteostasis. In addition, we are evaluating other phenotypes of the sul-2 mutants, in particular stress resistance

    Design of a case management model for people with chronic disease (Heart Failure and COPD). Phase I: modeling and identification of the main components of the intervention through their actors: patients and professionals (DELTA-ICE-PRO Study

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    Background Chronic diseases account for nearly 60% of deaths around the world. The extent of this silent epidemic has not met determined responses in governments, policies or professionals in order to transform old Health Care Systems, configured for acute diseases. There is a large list of research about alternative models for people with chronic conditions, many of them with an advanced practice nurse as a key provider, as case management. But some methodological concerns raise, above all, the design of the intervention (intensity, frequency, components, etc). Methods/Design Objectives: General: To develop the first and second phases (theorization and modeling) for designing a multifaceted case-management intervention in people with chronic conditions (COPD and heart failure) and their caregivers. Specific aims: 1) To identify key events in people living with chronic disease and their relation with the Health Care System, from their point of view. 2) To know the coping mechanisms developed by patients and their caregivers along the story with the disease. 3) To know the information processing and its utilization in their interactions with health care providers. 4) To detect potential unmet needs and the ways deployed by patients and their caregivers to resolve them. 5) To obtain a description from patients and caregivers, about their itineraries along the Health Care System, in terms of continuity, accessibility and comprehensiveness of care. 6) To build up a list of promising case-management interventions in patients with Heart Failure and COPD with this information in order to frame it into theoretical models for its reproducibility and conceptualization. 7) To undergo this list to expert judgment to assess its feasibility and pertinence in the Andalusian Health Care. Design: Qualitative research with two phases: For the first five objectives, a qualitative technique with biographic stories will be developed and, for the remaining objectives, an expert consensus through Delphi technique, on the possible interventions yielded from the first phase. The study will be developed in the provinces of Almería, Málaga and Granada in the Southern Spain, from patients included in the Andalusian Health Care Service database with the diagnosis of COPD or Heart Failure, with the collaboration of case manager nurses and general practitioners for the assessment of their suitability to inclusion criteria. Patients and caregivers will be interviewed in their homes or their Health Centers, with their family or their case manager nurse as mediator. Discussion First of a series of studies intended to design a case-management service for people with heart failure and COPD, in the Andalusian Health Care System, where case management has been implemented since 2002. Accordingly with the steps of a theoretical model for complex interventions, in this study, theorization and intervention modeling phases will be developed.This research was carried out with the support of one research grant, awarded by the Regional Health Ministry of Andalusia (Exp. 0222/2008

    Mutational spectrum of GNAL, THAP1 and TOR1A genes in isolated dystonia: study in a population from Spain and systematic literature review

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    [Objective] We aimed to investigate the prevalence of TOR1A, GNAL and THAP1 variants as the cause of dystonia in a cohort of Spanish patients with isolated dystonia and in the literature.[Methods] A population of 2028 subjects (including 1053 patients with different subtypes of isolated dystonia and 975 healthy controls) from southern and central Spain was included. The genes TOR1A, THAP1 and GNAL were screened using a combination of high-resolution melting analysis and direct DNA resequencing. In addition, an extensive literature search to identify original articles (published before 10 August 2020) reporting mutations in TOR1A, THAP1 or GNAL associated to dystonia was performed.[Results] Pathogenic or likely pathogenic variants in TOR1A, THAP1 and GNAL were identified in 0.48%, 0.57% and 0.29% of our patients, respectively. Five patients carried the variation p.Glu303del in TOR1A. A very rare variant in GNAL (p.Ser238Asn) was found as a putative risk factor for dystonia. In the literature, variations in TOR1A, THAP1 and GNAL accounted for about 6%, 1.8% and 1.1% of published dystonia patients, respectively.[Conclusions] There is a different genetic contribution to dystonia of these three genes in our patients (about 1.3% of patients) and in the literature (about 3.6% of patients), probably due the high proportion of adult-onset cases in our cohort. As regards age at onset, site of dystonia onset, and final distribution, in our population there is a clear differentiation between DYT-TOR1A and DYT-GNAL, with DYT-THAP1 likely to be an intermediate phenotype.This work was supported by the Carlos III Health Institute-European Regional Development Fund (ISCIII-FEDER) [PI14/01823, PI16/01575, PI18/01898, PI19/01576], the Andalusian Regional Ministry of Economics, Innovation, Science and Employment [CVI-02526, CTS-7685], the Andalusian Regional Ministry of Health and Welfare [PI-0741-2010, PI-0471-2013, PE-0210-2018, PI-0459-2018, PE-0186-2019], and the Alicia Koplowitz and Mutua Madrileña Foundations. Pilar Gómez-Garre was supported by the "Miguel Servet" program [MSII14/00018] (from ISCIII-FEDER) and “Nicolás Monardes” program [C-0048-2017] (from the Andalusian Regional Ministry of Health). Silvia Jesús was supported by the "Juan Rodés" program [B-0007-2019] and Daniel Macías-García by the “Río Hortega” program [CM18/00142] (both from ISCIII-FEDER). María Teresa Periñán was supported by the Spanish Ministry of Education [FPU16/05061]. Cristina Tejera was supported by VPPI-US from the University of Seville.Peer reviewe

    Famílies botàniques de plantes medicinals

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    Facultat de Farmàcia, Universitat de Barcelona. Ensenyament: Grau de Farmàcia, Assignatura: Botànica Farmacèutica, Curs: 2013-2014, Coordinadors: Joan Simon, Cèsar Blanché i Maria Bosch.Els materials que aquí es presenten són els recull de 175 treballs d’una família botànica d’interès medicinal realitzats de manera individual. Els treballs han estat realitzat per la totalitat dels estudiants dels grups M-2 i M-3 de l’assignatura Botànica Farmacèutica durant els mesos d’abril i maig del curs 2013-14. Tots els treballs s’han dut a terme a través de la plataforma de GoogleDocs i han estat tutoritzats pel professor de l’assignatura i revisats i finalment co-avaluats entre els propis estudiants. L’objectiu principal de l’activitat ha estat fomentar l’aprenentatge autònom i col·laboratiu en Botànica farmacèutica

    Libro: Las Ciencias Políticas y Sociales ante Contingencias de Amplio Impacto. Incógnitas y Propuestas

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    Ciencia Política, Administración Pública, Política y Gobierno, y Políticas Públicas. Licencia Creative Commons License 3.0 Reconocimiento-No Comercial-Sin Obras Derivadas. Usted es libre de copiar, distribuir y comunicar públicamente la obra bajo las condiciones siguientes: Reconocimiento - Debe reconocer los créditos de la obra de la manera especificada por el autor o el licenciador (pero no de una manera que sugiera que tiene su apoyo o apoyan el uso que hace de su obra). No comercial - No puede utilizar esta obra para fines comerciales. Sin obras derivadas - No se puede alterar, transformar o generar una obra derivada a partir de esta obra.Se analizan desde una perspectiva internacional a interdisciplinaria las vertientes, problemas, incógnitas y propuestas ante una nueva realidad o normalidad, resultado y consecuencia de la pandemia que se vive de manera contemporánea, de tal manera que la problematización abordada realimente propuestas, acciones y rutas adecuadas y satisfactorias que permitan la construcción de futuros promisorios.Academia Internacional de Ciencias Político-Administrativas y Estudios de Futuro, A.C. (IAPAS por sus siglas en inglés)

    El virus de la lengua azul como modelo para el estudio de los orbivirus

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    Al género Orbivirus pertenecen tres virus transmitidos a través de vector, que afectan al ganado domestico y a animales de vida libre (Lengua Azul, Peste Equina Africana y Enfermedad Hemorrágica Epizoótica de los Ciervos), y que han causado en las dos últimas décadas, especialmente el virus de la Lengua Azul (vLA), pérdidas económicas cuantiosas en prácticamente toda Europa y en los países del sur y el este del Mediterráneo. Es importante, por tanto, profundizar en el conocimiento sobre los mecanismos de actuación de estos virus, tomando como base al vLA considerado como el virus modelo para el estudio de este género, y en los mecanismos que modulan la respuesta inmunológica del hospedador para poder mejorar el control de la enfermedad mediante vacunas más eficaces. Hasta el momento se desconocen aspectos tan importantes como la duración de la viremia en animales infectados, el papel de la inmunidad celular desencadenada en el hospedador o los mecanismos de �hibernación� que permitan al vLA �reaparecer� tras un periodo de ausencia del vector. Además, el hecho de que los tres compartan los mismos vectores, hace necesario analizar el riesgo de entrada de los virus de la Peste Equina Africana y de la Enfermedad Hemorrágica Epizoótica de los Ciervos en España, -que actualmente se detectan en los países del África Subsahariana y en el sur y este del Mediterráneo, respectivamente-. Por último, se considera también imprescindible mejorar las técnicas de diagnóstico para el virus de la Enfermedad Hemorrágica Epizoótica de los Ciervos y el virus de la Peste Equina Africana y desarrollar nuevos ensayos basados en las cepas circulantes por el área mediterránea

    Exploring the Application of the Negishi Reaction of HaloBODIPYs: Generality, Regioselectivity, and Synthetic Utility in the Development of BODIPY Laser Dyes

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    The generality of the palladium-catalyzed C–C coupling Negishi reaction when applied to haloBODIPYs is demonstrated on the basis of selected starting BODIPYs, including polyhalogenated and/or asymmetrical systems, and organozinc reagents. This reaction is an interesting synthetic tool in BODIPY chemistry, mainly because it allows a valuable regioselective postfunctionalization of BODIPY chromophores with different functional groups. In this way, functional patterns that are difficult to obtain by other procedures (e.g., asymmetrically functionalized BODIPYs involving halogenated positions) can now be made. The regioselectivity is achieved by controlling the reaction conditions and is based on almost-general reactivity preferences, and the nature of the involved halogens and their positions. This ability is exemplified by the preparation of a series of new BODIPY dyes with unprecedented substitution patterns allowing noticeable lasing properties
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