152 research outputs found

    Las trabalenguas como estrategia para mejorar el lenguaje oral en los niños del inicial 658 Fe y Alegria – Amay

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    La finalidad de la investigación fue “determinar la relación de las trabalenguas como estrategia para mejorar el lenguaje oral en los niños del inicial 658 Fe y Alegría – Amay”. El procedimiento que se aplicará en el análisis será el enfoque descriptivo lo cual permitirá observar a la población en su conjunto sin manipular ninguna de las variables y correlacional porque buscará la relación entre ambas. Población: La población es el total de los que conforman la institución actualmente cuenta con 174 niños matriculados a cargo de 9 docentes en 9 aulas. Muestra: La muestra que es un pequeño subconjunto de la población estará representada por los niños de las aulas de 5 años con un total de 46. Técnicas de recolección de Datos: El instrumento será a través de la observación por lo tanto se formularán guías de observación que serán aplicadas a la muestra seleccionada, así mismo se utilizarán como referencia la lista de cotejo y las fichas bibliográficas. Técnicas para el Procesamiento de Información Para obtener los resultados se empleó el SPSS en su última versión (25.0)

    MEDICINAL PLANTS USED IN TRADITIONAL HERBAL MEDICINE IN THE PROVINCE OF CHIMBORAZO, ECUADOR.

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    Background: Phyto-therapy studies on Chimborazo province in Ecuador are really limited. This area, located within the Andes, is considered a millenarian and intercultural province, where multiples cultures and ethnic groups coexist. Materials and Methods: The study was conducted through direct interviews with 84 ancestral healers from the Province of Chimborazo, Ecuador. Results: We presented ten most used species by ancestral healers of Chimborazo province to cure different illnesses and their medicinal uses. We also provided the application mode and some features of healing that should be emphasized. Conclusion: The nettle was the medicinal plant employed for more different illness and the chamomile was the one with higher prevalence. We could confirm that the Native Ecuadorians have a vast variety of traditions and popular medicinal practices that have great value and are needed to be researched and studied extensively

    Clinical and structural brain correlates of hypomimia in early-stage Parkinson's disease

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    Altres ajuts: acord transformatiu CRUE-CSICBackground and purpose: Reduced facial expression of emotions is a very frequent symptom of Parkinson's disease (PD) and has been considered part of the motor features of the disease. However, the neural correlates of hypomimia and the relationship between hypomimia and other non-motor symptoms of PD are poorly understood. Methods: The clinical and structural brain correlates of hypomimia were studied. For this purpose, cross-sectional data from the COPPADIS study database were used. Age, disease duration, levodopa equivalent daily dose, Unified Parkinson's Disease Rating Scale part III (UPDRS-III), severity of apathy and depression and global cognitive status were collected. At the imaging level, analyses based on gray matter volume and cortical thickness were used. Results: After controlling for multiple confounding variables such as age or disease duration, the severity of hypomimia was shown to be indissociable from the UPDRS-III speech and bradykinesia items and was significantly related to the severity of apathy (β = 0.595; p < 0.0001). At the level of neural correlates, hypomimia was related to motor regions brodmann area 8 (BA 8) and to multiple fronto-temporo-parietal regions involved in the decoding, recognition and production of facial expression of emotions. Conclusion: Reduced facial expressivity in PD is related to the severity of symptoms of apathy and is mediated by the dysfunction of brain systems involved in motor control and in the recognition, integration and expression of emotions. Therefore, hypomimia in PD may be conceptualized not exclusively as a motor symptom but as a consequence of a multidimensional deficit leading to a symptom where motor and non-motor aspects converge

    Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disorders.

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    Genetic variants in chromatin regulators are frequently found in neurodevelopmental disorders, but their effect in disease etiology is rarely determined. Here, we uncover and functionally define pathogenic variants in the chromatin modifier EZH1 as the cause of dominant and recessive neurodevelopmental disorders in 19 individuals. EZH1 encodes one of the two alternative histone H3 lysine 27 methyltransferases of the PRC2 complex. Unlike the other PRC2 subunits, which are involved in cancers and developmental syndromes, the implication of EZH1 in human development and disease is largely unknown. Using cellular and biochemical studies, we demonstrate that recessive variants impair EZH1 expression causing loss of function effects, while dominant variants are missense mutations that affect evolutionarily conserved aminoacids, likely impacting EZH1 structure or function. Accordingly, we found increased methyltransferase activity leading to gain of function of two EZH1 missense variants. Furthermore, we show that EZH1 is necessary and sufficient for differentiation of neural progenitor cells in the developing chick embryo neural tube. Finally, using human pluripotent stem cell-derived neural cultures and forebrain organoids, we demonstrate that EZH1 variants perturb cortical neuron differentiation. Overall, our work reveals a critical role of EZH1 in neurogenesis regulation and provides molecular diagnosis for previously undefined neurodevelopmental disorders

    Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disorders

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    Genetic variants in chromatin regulators are frequently found in neurodevelopmental disorders, but their effect in disease etiology is rarely determined. Here, we uncover and functionally define pathogenic variants in the chromatin modifier EZH1 as the cause of dominant and recessive neurodevelopmental disorders in 19 individuals. EZH1 encodes one of the two alternative histone H3 lysine 27 methyltransferases of the PRC2 complex. Unlike the other PRC2 subunits, which are involved in cancers and developmental syndromes, the implication of EZH1 in human development and disease is largely unknown. Using cellular and biochemical studies, we demonstrate that recessive variants impair EZH1 expression causing loss of function effects, while dominant variants are missense mutations that affect evolutionarily conserved aminoacids, likely impacting EZH1 structure or function. Accordingly, we found increased methyltransferase activity leading to gain of function of two EZH1 missense variants. Furthermore, we show that EZH1 is necessary and sufficient for differentiation of neural progenitor cells in the developing chick embryo neural tube. Finally, using human pluripotent stem cell-derived neural cultures and forebrain organoids, we demonstrate that EZH1 variants perturb cortical neuron differentiation. Overall, our work reveals a critical role of EZH1 in neurogenesis regulation and provides molecular diagnosis for previously undefined neurodevelopmental disorders

    Post-intervention Status in Patients With Refractory Myasthenia Gravis Treated With Eculizumab During REGAIN and Its Open-Label Extension

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    OBJECTIVE: To evaluate whether eculizumab helps patients with anti-acetylcholine receptor-positive (AChR+) refractory generalized myasthenia gravis (gMG) achieve the Myasthenia Gravis Foundation of America (MGFA) post-intervention status of minimal manifestations (MM), we assessed patients' status throughout REGAIN (Safety and Efficacy of Eculizumab in AChR+ Refractory Generalized Myasthenia Gravis) and its open-label extension. METHODS: Patients who completed the REGAIN randomized controlled trial and continued into the open-label extension were included in this tertiary endpoint analysis. Patients were assessed for the MGFA post-intervention status of improved, unchanged, worse, MM, and pharmacologic remission at defined time points during REGAIN and through week 130 of the open-label study. RESULTS: A total of 117 patients completed REGAIN and continued into the open-label study (eculizumab/eculizumab: 56; placebo/eculizumab: 61). At week 26 of REGAIN, more eculizumab-treated patients than placebo-treated patients achieved a status of improved (60.7% vs 41.7%) or MM (25.0% vs 13.3%; common OR: 2.3; 95% CI: 1.1-4.5). After 130 weeks of eculizumab treatment, 88.0% of patients achieved improved status and 57.3% of patients achieved MM status. The safety profile of eculizumab was consistent with its known profile and no new safety signals were detected. CONCLUSION: Eculizumab led to rapid and sustained achievement of MM in patients with AChR+ refractory gMG. These findings support the use of eculizumab in this previously difficult-to-treat patient population. CLINICALTRIALSGOV IDENTIFIER: REGAIN, NCT01997229; REGAIN open-label extension, NCT02301624. CLASSIFICATION OF EVIDENCE: This study provides Class II evidence that, after 26 weeks of eculizumab treatment, 25.0% of adults with AChR+ refractory gMG achieved MM, compared with 13.3% who received placebo

    Minimal Symptom Expression' in Patients With Acetylcholine Receptor Antibody-Positive Refractory Generalized Myasthenia Gravis Treated With Eculizumab

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    The efficacy and tolerability of eculizumab were assessed in REGAIN, a 26-week, phase 3, randomized, double-blind, placebo-controlled study in anti-acetylcholine receptor antibody-positive (AChR+) refractory generalized myasthenia gravis (gMG), and its open-label extension

    Long-range angular correlations on the near and away side in p&#8211;Pb collisions at

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    Consumer ethnicity three decades after: a TCR agenda

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    Research into consumer ethnicity is a vital discipline that has substantially evolved in the past three decades. This conceptual article critically reviews its immense literature and examines the extent to which it has provided extensive contributions not only for the understanding of ethnicity in the marketplace but also for personal/collective well-being. We identify two gaps accounting for scant transformative contributions. First, today social transformations and conceptual sophistications require a revised vocabulary to provide adequate interpretive lenses. Second, extant work has mostly addressed the subjective level of ethnic identity projects but left untended the meso/macro forces affecting ethnicity (de)construction and personal/collective well-being. Our contribution stems from filling both gaps and providing a theory of ethnicity (de)construction that includes migrants as well as non-migrants
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