25 research outputs found

    Validation of the Spanish version of the eating disorders quality of life instrument (EDQOL)

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    Background The Eating Disorders Quality of Life instrument (EDQOL) is a disease-specifc health related quality of life self-report questionnaire designed for disordered eating patients. Although the EDQOL is one of the most suitable and widely used questionnaires in many countries, no prior research has addressed the psychometric properties of the Spanish adaptation of the EDQOL. Therefore, the aim of this study is to examine the psychometric properties of the Spanish version of the EDQOL among ED patients. Methods 141 female eating disorder patients, with a mean age of 18.06 years (SD=6.31), completed the EDQL in addition to the Eating Disorder Examination Questionnaire (EDEQ), the Depression, Anxiety and Stress Scales (DASS21), the Clinical Impairment Assessment (CIA 3.0) and the Health Survey (SF-12). We calculated item/scale characteristics, internal consistencies and bivariate correlations with other measures of quality of life and adjustments. We assessed the goodness-of-ft of the 4-factor model using confrmatory factors analysis and explored the sensitivity of change following skill-based interventions. Results The ft of the 4-factor model was acceptable (Root Mean Square Error of Approximation: 0.07, Standard Root Mean Square Residual: 0.07). Cronbach’s alpha was excellent for the total (.91) and acceptable for all subscales (0.78–0.91). The construct validity was found with measures of psychological distress, depression, anxiety, quality of life and clinical impairment. The psychological and physical/cognitive scales and the EDQOL global scale were responsive to change. Conclusion The Spanish EDQOL version is a useful instrument to assess quality of life in eating disorder patients and to evaluate outcomes of skills-based intervention

    Generation and characterization of a human iPSC line (UAMi005-A) from a patient with nonketotic hyperglycinemia due to mutations in the GLDC gene

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    A human induced pluripotent stem cell (iPSC) line was generated from fibroblasts of a patient with nonketotic hyperglycinemia bearing the biallelic changes c.1742C > G (p.Pro581Arg) and c.2368C > T (p.Arg790Trp) in the GLDC gene. Reprogramming factors OCT3/4, SOX2, KLF4 and c-MYC were delivered using a non-integrative method based on the Sendai virus. Once established, iPSCs have shown full pluripotency, differentiation capacity and genetic stability. This cellular model provides a good resource for disease modeling and drug discoveryResearch reported in this work was funded by Grants of Spanish Ministerio de Economía y Competitividad and Fondo Europeo de Desarrollo Regional (FEDER) PI16/00573, and Fundación Isabel Gemio- Fundación La Caixa (LCF/PR/PR16/11110018). The authors thank the Cytogenetic unit from Centro Nacional de Investigaciones Oncológicas (CNIO) for its excellent technical assistance. Centro de Biología Molecular Severo Ochoa receives an institutional grant from Fundación Ramón Areces. LAC is a PhD student funded by the Asociación Española para el Estudio de Metabolopatías Congénitas (AEPMEC). ALM is a postdoctoral researcher of Comunidad Autónoma de Madrid (PEJD-2017-POST/BMD-3671). EAB is a PhD student funded by the FPU program of the Spanish Ministry of Science, Innovation and Universities (FPU15/02923

    The science of storytelling: different levels of narrative integration in teaching innovation applied to Human Physiology

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    [EN] The incorporation of narrative features into teaching materials of different formats, such as graphic and audiovisual ones, has proven to be an efficient way of encouraging student motivation. Besides, it strengthens the teaching of abstract concepts like those frequent in experimental sciences, such as Physiology, a basic subject in life sciences studies. From the Department of Physiology of the University of Valencia we present the creation of a teaching innovation group focused on the development of Narrative Physiology, FISIONARR, with the aim of promoting the narrative nature of teaching Physiology through two strategic lines. The first one focuses on graphic narrative and its integration as a teaching tool at different levels; the second deals with the generation of audiovisual narrative. In this sense, specific audiovisual material has been prepared for a series of videos entitled " Invisible Physiology", and as a conductive element of the digital educational escape room "Alimental, querida Watson".[ES] La incorporación de elementos narrativos en material docente de distintos formatos gráficos y audiovisuales es una manera eficiente de incentivar la motivación del estudiantado y de reforzar la docencia de conceptos abstractos como los relacionados con ciencias experimentales como la Fisiología, materia básica en estudios de ciencias de la salud. Desde el Departamento de Fisiología de la Universitat de València presentamos la creación de un grupo de innovación docente centrado en el uso de la Fisiología Narrativa, FISIONARR, con el objetivo de potenciar el carácter narrativo de la docencia en Fisiología a través de dos líneas estratégicas. La primera de ellas se centra en la narrativa gráfica y en su integración como herramienta docente a distintos niveles. La segunda trata sobre la generación de narrativa audiovisual y concretamente de ha elaborado material para una serie de videos titulados “La Fisiología Invisible” y como elemento conductor de la escape room educacional digital “Alimental, querida Watson”.Olaso Gonzalez, G.; Calvo Saiz, C.; González Cabo, P.; García Giménez, JL.; Gómez-Cabrera, MC.; Arribas Rodríguez, S.; Gal Iglesias, B.... (2023). La ciencia de contar historias: distintos niveles de integración narrativa en innovación docente aplicada a la Fisiología Humana. Editorial Universitat Politècnica de València. 1050-1060. https://doi.org/10.4995/INRED2023.2023.166551050106

    Treatment with tocilizumab or corticosteroids for COVID-19 patients with hyperinflammatory state: a multicentre cohort study (SAM-COVID-19)

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    Objectives: The objective of this study was to estimate the association between tocilizumab or corticosteroids and the risk of intubation or death in patients with coronavirus disease 19 (COVID-19) with a hyperinflammatory state according to clinical and laboratory parameters. Methods: A cohort study was performed in 60 Spanish hospitals including 778 patients with COVID-19 and clinical and laboratory data indicative of a hyperinflammatory state. Treatment was mainly with tocilizumab, an intermediate-high dose of corticosteroids (IHDC), a pulse dose of corticosteroids (PDC), combination therapy, or no treatment. Primary outcome was intubation or death; follow-up was 21 days. Propensity score-adjusted estimations using Cox regression (logistic regression if needed) were calculated. Propensity scores were used as confounders, matching variables and for the inverse probability of treatment weights (IPTWs). Results: In all, 88, 117, 78 and 151 patients treated with tocilizumab, IHDC, PDC, and combination therapy, respectively, were compared with 344 untreated patients. The primary endpoint occurred in 10 (11.4%), 27 (23.1%), 12 (15.4%), 40 (25.6%) and 69 (21.1%), respectively. The IPTW-based hazard ratios (odds ratio for combination therapy) for the primary endpoint were 0.32 (95%CI 0.22-0.47; p < 0.001) for tocilizumab, 0.82 (0.71-1.30; p 0.82) for IHDC, 0.61 (0.43-0.86; p 0.006) for PDC, and 1.17 (0.86-1.58; p 0.30) for combination therapy. Other applications of the propensity score provided similar results, but were not significant for PDC. Tocilizumab was also associated with lower hazard of death alone in IPTW analysis (0.07; 0.02-0.17; p < 0.001). Conclusions: Tocilizumab might be useful in COVID-19 patients with a hyperinflammatory state and should be prioritized for randomized trials in this situatio

    Clonal chromosomal mosaicism and loss of chromosome Y in elderly men increase vulnerability for SARS-CoV-2

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    The pandemic caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2, COVID-19) had an estimated overall case fatality ratio of 1.38% (pre-vaccination), being 53% higher in males and increasing exponentially with age. Among 9578 individuals diagnosed with COVID-19 in the SCOURGE study, we found 133 cases (1.42%) with detectable clonal mosaicism for chromosome alterations (mCA) and 226 males (5.08%) with acquired loss of chromosome Y (LOY). Individuals with clonal mosaic events (mCA and/or LOY) showed a 54% increase in the risk of COVID-19 lethality. LOY is associated with transcriptomic biomarkers of immune dysfunction, pro-coagulation activity and cardiovascular risk. Interferon-induced genes involved in the initial immune response to SARS-CoV-2 are also down-regulated in LOY. Thus, mCA and LOY underlie at least part of the sex-biased severity and mortality of COVID-19 in aging patients. Given its potential therapeutic and prognostic relevance, evaluation of clonal mosaicism should be implemented as biomarker of COVID-19 severity in elderly people. Among 9578 individuals diagnosed with COVID-19 in the SCOURGE study, individuals with clonal mosaic events (clonal mosaicism for chromosome alterations and/or loss of chromosome Y) showed an increased risk of COVID-19 lethality

    Is there a place in primary care for rare diseases? The case of fibrodysplasia ossificans progressiva.

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    La fibrodisplasia osificante progresiva es una de las enfermedades constitucionales óseas más devastadoras, y supone un ejemplo válido para establecer el papel de la asistencia primaria en la atención a las enfermedades poco frecuentes. Aunque las enfermedades raras suelen presentar alteraciones llamativas pueden remedar síntomas y signos de trastornos comunes, con riesgo de pasar desapercibidas. Por ello, todos los profesionales sanitarios deberían proceder con un grado de sospecha razonable ante un paciente con una enfermedad aparentemente común con rasgos atípicos o evolución no convencional. En el seguimiento integral e individualizado, los cuidados dispensados por el equipo de atención primaria en coordinación con otros dispositivos asistenciales, son fundamentales. La calidad de la atención a enfermedades raras no puede ser inferior a la que se presta a los demás procesos crónicos, ya que –además de ser un imperativo de justicia y equidad– estos pacientes son, en esencia, el «paradigma de la cronicidad». Fibrodysplasia ossificans progressiva is one of the most devastating constitutional diseases of the bone, and may be a valid example to establish the role of Primary Care in the care of rare diseases. Although rare diseases usually present with marked anomalies, they can mimic signs and symptoms of common disorders, with the risk of going unnoticed. For this reason, all health professionals should proceed with a reasonable suspicion when confronted with a patient with an apparently common disease with atypical symptoms and a non-conventional progress. The care given by the Primary Care team along with other health care services are fundamental in the integrated and individualised follow-up. The quality of care in rare diseases must not be inferior to that provided to the other chronic diseases, since, besides being a requirement of justice and fairness, these patients are, in essence, the "paradigm of chronicity".S
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