The Application of Quality of Life in Services for Persons with Intellectual and Developmental Disabilities: Lines of intervention in Spain and Italy

The concept of quality of life (QOL) has become a measurable construct of great value to all people, including people with intellectual and developmental disabilities (IDD). In particular, the field of IDD is currently experiencing a paradigm shift related to beliefs, assumptions, policies, and practices concerning people with disabilities and their families and the place and role they play in society. This article starts by reconstructing the state of the art of the application of QOL in Social Services, reconstructing its research developments, operational declinations and influences in social policies in Spain and Italy

Are Type, Frequency, and Daily Time Equally Valid Estimators of Support Needs in Children With Intellectual Disability? A Multitrait?Multimethod Analysis of the Supports Intensity Scale for Children (SIS-C)

ABSTRACT: Support needs represent the intensity of support required by a person with a disability in order to take part in the activities related to normative human functioning. The Supports Intensity Scale for Children (SIS-C) is possibly the most promising tool for assessing and designing individualized support programs in children with intellectual disability. The SIS-C measures support needs across 61 activities, each one assessed along three methods: type of support, frequency, and daily time during which support is to be given. We investigated the impact of method effects in the SIS-C through a bifactor approach to the analysis of multitrait?multimethod matrices. The results suggest that neither intensity nor frequency scales produced method effects that significantly distorted the measurement of support needs. However, the daily support time method had substantial undesirable effects on five of the seven subscales of support needs. Considerations about support needs assessment and future modifications of the scale are discussed.The author(s) disclosed receipt of the following financial support for the research, authorship, and/or publication of this article: Work on this research was funded by the Spanish Ministry of the Economy and Competitiveness (R&D Projects, PSI2012- 36278), and the Autonomous Community of Castile and Leon (R&D Projects, SA120U13)

Using the quality of life framework to operationalize and assess the CRPD articles and the Sustainable Development Goals

This article describes how rights, the United Nations Sustainable Development Goals (SDGs), and the quality of life (QOL) framework are closely interrelated. Although legislation can be used as a tool for the practical application of QOL principles, QOL assessment information is required to further develop legislation and monitor the fulfillment of laws, policies, and the SDGs. A validated QOL model, which provides a set of concepts that can be one useful way for understanding and assessing QOL, can also function to assess many of the rights and goals promulgated in the Convention on the Rights of Persons with Disabilities (CRPD) and in the SDGs. This article illustrates the overlap between the CRPD, SDGs and QOL using the #Rights4MeToo Scale, a new measurement instrument for people with intellectual and developmental disabilities (IDD). The instrument's value lies in its potential to: (a) raise awareness about the rights enshrined in the CRPD; (b) design, implement, and evaluate the effectiveness of interventions aimed at facilitating the exercise of those rights and the achievement of the SDGs; and (c) ultimately improve the QOL of people with IDD

Role of retinal pigment epithelium-derived exosomes and autophagy in new blood vessel formation

Autophagy and exosome secretion play important roles in a variety of physiological and disease states, including the development of age‐related macular degeneration. Previous studies have demonstrated that these cellular mechanisms share common pathways of activation. Low oxidative damage in ARPE‐19 cells, alters both autophagy and exosome biogenesis. Moreover, oxidative stress modifies the protein and genetic cargo of exosomes, possibly affecting the fate of surrounding cells. In order to understand the connection between these two mechanisms and their impact on angiogenesis, stressed ARPE‐19 cells were treated with a siRNA‐targeting Atg7, a key protein for the formation of autophagosomes. Subsequently, we observed the formation of multivesicular bodies and the release of exosomes. Released exosomes contained VEGFR2 as part of their cargo. This receptor for VEGF—which is critical for the development of new blood vessels—was higher in exosome populations released from stressed ARPE‐19. While stressed exosomes enhanced tube formation, exosomes became ineffective after silencing VEGFR2 in ARPE‐19 cells and were, consequently, unable to influence angiogenesis. Moreover, vessel sprouting in the presence of stressed exosomes seems to follow a VEGF‐independent pathway. We propose that abnormal vessel growth correlates with VEGFR2‐expressing exosomes release from stressed ARPE‐19 cells, and is directly linked to autophagy

Normalization of sphingomyelin levels by 2-hydroxyoleic acid induces autophagic cell death of SF767 cancer cells

The very high mortality rate of gliomas reflects the unmet therapeutic need associated with this type of brain tumor. We have discovered that the plasma membrane fulfills a critical role in the propagation of tumorigenic signals, whereby changes in membrane lipid content can either activate or silence relevant pathways. We have designed a synthetic fatty acid, 2-hydroxyoleic acid (2OHOA), that specifically activates sphingomyelin synthase (SGMS), thereby modifying the lipid content of cancer cell membranes and restoring lipid levels to those found in normal cells. In reverting, the structure of the membrane by activating SGMS, 2OHOA inhibits the RAS-MAPK pathway, which in turn fails to activate the CCND (Cyclin D)-CDK4/CDK6 and PI3K-AKT1 pathways. The overall result in SF767 cancer cells, a line that is resistant to apoptosis, is the sequential induction of cell cycle arrest, cell differentiation and autophagy. Such effects are not observed in normal cells (MRC-5) and thus, this specific activation of programmed cell death infers greater efficacy and lower toxicity to 2OHOA than that associated with temozolomide (TMZ), the reference drug for the treatment of glioma

The galaxy populations from the centers to the infall regions in z~0.25 clusters

We conducted a panoramic spectroscopic campaign with MOSCA at the Calar Alto observatory. We acquired spectra of more than 500 objects. Approximately 150 of these spectra were of galaxies that are members of six different clusters, which differ in intrinsic X-ray luminosity. The wavelength range allows us to quantify the star formation activity by using the OII and the Halpha lines. This activity is examined in terms of the large-scale environment expressed by the clustercentric distance of the galaxies as well as on local scales given by the spatial galaxy densities. A global suppression of star-formation is detected in the outskirts of clusters, at about 3Rvir. Galaxies with ongoing star-formation have similar activity, regardless of the environment. Therefore, the decline of the star-formation activity inside the investigated clusters is driven mainly by the significant change in the fraction of active versus passive populations. This suggests that the suppression of the star-formation activity occurs on short timescales. We detect a significant population of red star-forming galaxies whose colors are consistent with the red-sequence of passive galaxies. They appear to be in an intermediate evolutionary stage between active and passive types. Since a suppression of star-formation activity is measured at large clustercentric distances and low projected densities, purely cluster-specific phenomena cannot fully explain the observed trends. Therefore, as suggested by other studies, group preprocessing may play an important role in transforming galaxies before they enter into the cluster environment. Since models predict that a significant fraction of galaxies observed in the outskirts may have already transversed through the cluster center, the effects of ram-pressure stripping cannot be neglected. (ABRIDGED)Comment: Revised version. Astronomy and Astrophysics in press. Important typo correcte

Salud, interculturalidad y Buen Vivir: respeto a la diversidad y mutuo beneficio en el intercambio de saberes y experiencias

La configuración de espacios de diálogo entre varios interlocutores es la mayor expresión de la tolerancia, el respeto, la diferencia, la convivencia armónica, incluso la libertad. El resultado, como en el caso de esta obra, contribuye a la edificación de sociedades más justas, equitativas y solidarias, compromiso que profesionales y académicos de diferentes instituciones de Educación Superior del Ecuador asumieron en el I Congreso Internacional “interculturalidad y Buen Vivir, celebrado en 2018, en Cuenca, Ecuador. El libro se compone de tres partes. La primera parte, La sociedad y la búsqueda del bien común, propone al lector puntos de vista acerca de cómo son interpretados hoy los conceptos de la interculturalidad y de Buen Vivir. La segunda, Ciencia y tecnología y sabiduría ancestral: casos de investigación aplicada al contexto ecuatoriano, presenta los resultados de investigaciones realizadas en ámbitos disciplinarios distintos como la educación, la comunicación digital, la química, la medicina y la informática, acomunadas por la intención de asociar el desarrollo tecnológico al conocimiento, patrimonio de culturas ancestrales. La tercera parte pone en la mesa los resultados de investigaciones científicas que evidencian cómo la medicina, uno de los ámbitos científicos y sociales más importantes y tecnológicamente avanzados de nuestra era, resulte en múltiples expresiones de profunda raíz cultural que relaciona prácticas ancestrales y convencionales

Escucha México, Estrategias Gráficas y Cultura Auditiva. Otoño 2022

Este reporte del PAP Escucha México, perteneciente al trabajo realizado durante el periodo de Otoño 2022, cuenta con información detallada sobre los resultados alcanzados en cada uno de los proyectos que integran esta organización en el período anteriormente establecido. Para este proceso en específico, se buscó enfocar la mayor cantidad de esfuerzos posibles a que el 4to Encuentro Internacional de Cultura Auditiva se desarrollara de la mejor forma posible, sin descuidar el trabajo que se siguió realizando en el resto de proyectos. Como resumen general, todos presentaron resultados positivos, pues se tuvo presencia importante en redes sociales, mejor que en periodos anteriores, además de que se combinaron esfuerzos para que el 4to Encuentro tuviera una difusión adecuada y alcanzara a la mayor cantidad de personas posibles, lo que a su vez resultó en eventos llenos de gente interesada en aprender sobre Cultura Auditiva y Discapacidad, ejes temáticos centrales de este PAP.ITESO, A.C

Mapping the human genetic architecture of COVID-19

Matters Arising to this article was published on 03 August 2022, available online at: https://doi.org/10.1038/s41586-022-04826-7 . A second Matters Arising to this article was published on 06 September 2023, available online at: https://doi.org/10.1038/s41586-023-06355-3 .Data availability: Summary statistics generated by the COVID-19 HGI are available at https://www.covid19hg.org/results/r5/ and are available in the GWAS Catalog (study code GCST011074). The analyses described here include the freeze-5 data. COVID-19 HGI continues to regularly release new data freezes. Summary statistics for non-European ancestry samples are not currently available due to the small individual sample sizes of these groups, but results for lead variants of 13 loci are reported in Supplementary Table 3. Individual level data can be requested directly from contributing studies, listed in Supplementary Table 1. We used publicly available data from GTEx (https://gtexportal.org/home/), the Neale lab (https://www.nealelab.is/uk-biobank/), Finucane lab (https://www.finucanelab.org), the FinnGen Freeze 4 cohort (https://www.finngen.fi/en/access_results) and the eQTL catalogue release 3 (https://www.ebi.ac.uk/eqtl/).Code availability: The code for summary statistics lift-over, the projection PCA pipeline including precomputed loadings and meta-analyses are available on GitHub (https://github.com/covid19-hg/) and the code for the Mendelian randomization and genetic correlation pipeline is available on GitHub at https://github.com/marcoralab/MRcovid.Reporting summary: Further information on research design is available in the Nature Research Reporting Summary linked to this paper online at: https://www.nature.com/articles/s41586-021-03767-x#MOESM2 .Supplementary information is available onlne at: https://www.nature.com/articles/s41586-021-03767-x#Sec24 .Extended data figures and tables are available online at: https://www.nature.com/articles/s41586-021-03767-x#Sec23 .Copyright © The Author(s) 2021. The genetic make-up of an individual contributes to the susceptibility and response to viral infection. Although environmental, clinical and social factors have a role in the chance of exposure to SARS-CoV-2 and the severity of COVID-191,2, host genetics may also be important. Identifying host-specific genetic factors may reveal biological mechanisms of therapeutic relevance and clarify causal relationships of modifiable environmental risk factors for SARS-CoV-2 infection and outcomes. We formed a global network of researchers to investigate the role of human genetics in SARS-CoV-2 infection and COVID-19 severity. Here we describe the results of three genome-wide association meta-analyses that consist of up to 49,562 patients with COVID-19 from 46 studies across 19 countries. We report 13 genome-wide significant loci that are associated with SARS-CoV-2 infection or severe manifestations of COVID-19. Several of these loci correspond to previously documented associations to lung or autoimmune and inflammatory diseases3–7. They also represent potentially actionable mechanisms in response to infection. Mendelian randomization analyses support a causal role for smoking and body-mass index for severe COVID-19 although not for type II diabetes. The identification of novel host genetic factors associated with COVID-19 was made possible by the community of human genetics researchers coming together to prioritize the sharing of data, results, resources and analytical frameworks. This working model of international collaboration underscores what is possible for future genetic discoveries in emerging pandemics, or indeed for any complex human disease

A second update on mapping the human genetic architecture of COVID-19

Matters Arising From: COVID-19 Host Genetics Initiative. Nature https://doi.org/10.1038/s41586-021-03767-x (2021)Data availability: Summary statistics generated by the COVID-19 HGI are available online, including per-ancestry summary statistics for African, admixed American, East Asian, European and South Asian ancestries (https://www.covid19hg.org/results/r7/). The analyses described here used the data release 7. If available, individual-level data can be requested directly from contributing studies, listed in Supplementary Table 1. We used publicly available data from GTEx (https://gtexportal.org/home/), the Neale laboratory (http://www.nealelab.is/uk-biobank/), the Finucane laboratory (https://www.finucanelab.org), the FinnGen Freeze 4 cohort (https://www.finngen.fi/en/access_results) and the eQTL catalogue release 3 (http://www.ebi.ac.uk/eqtl/).Code availability: The code for summary statistics lift-over, the projection PCA pipeline including precomputed loadings and meta-analyses (https://github.com/covid19-hg/); for heritability estimation (https://github.com/AndrewsLabUCSF/COVID19_heritability); for Mendelian randomization and genetic correlation (https://github.com/marcoralab/MRcovid); and subtype analyses (https://github.com/mjpirinen/covid19-hgi_subtypes) are available at GitHub.Reporting summary: Further information on research design is available in the Nature Portfolio Reporting Summary linked to this article online at: https://www.nature.com/articles/s41586-023-06355-3#MOESM2 .Supplementary information is available online at: https://www.nature.com/articles/s41586-023-06355-3#Sec4 .Copyright © The Author(s) 2023. Investigating the role of host genetic factors in COVID-19 severity and susceptibility can inform our understanding of the underlying biological mechanisms that influence adverse outcomes and drug development1,2. Here we present a second updated genome-wide association study (GWAS) on COVID-19 severity and infection susceptibility to SARS-CoV-2 from the COVID-19 Host Genetic Initiative (data release 7). We performed a meta-analysis of up to 219,692 cases and over 3 million controls, identifying 51 distinct genome-wide significant loci—adding 28 loci from the previous data release2. The increased number of candidate genes at the identified loci helped to map three major biological pathways that are involved in susceptibility and severity: viral entry, airway defence in mucus and type I interferon