Intervención Logopédica en un caso de Déficit de Glicosilación de Proteínas (CDG)

El presente trabajo se centra en la intervención logopédica de una niña de doce años de edad, que cursa con un déficit en la glicosilación de las proteínas (CDG), considerada enfermedad rara por su escaso número de casos. Este caso se presenta durante las prácticas realizadas en verano y, posteriormente, la puesta en marcha del Practicum III del Grado de Logopedia, en el centro ASPACE de Valladolid. Los aspectos a tratar en el documento comienzan con una justificación teórica, en la cual, se explicarán los contenidos relacionados con esta enfermedad de forma detallada, seguido de los objetivos que se pretende cumplir en este trabajo. Después, se realiza una evaluación inicial de los aspectos lingüísticos que se desean destacar para, posteriormente, explicar la metodología y el diseño de la intervención logopédica que se va a llevar a cabo, teniendo en cuenta los resultados obtenidos en las pruebas de evaluación. Finalmente, se procede a una segunda evaluación para comparar los resultados obtenidos antes y después de la intervención y efectuar la interpretación adecuada de los mismos.Grado en Logopedi

Redefiniendo el Trabajo Social: nuevos yacimimientos de empleo en el envejecimiento. Una propuesta desde la intervención social

We are in a socio-demographic context in which the number of people in need of care, mainly people over the age of 65, a majority collective today, in Spain, is increasing progressively. This leads to new demands and expectations about the attention paid. This means that social intervention is facing a great challenge. So far, the forms of social intervention and care provided by the system do not seem to fully meet emerging needs, mainly because of their poor adaptation to new social contexts and lifestyles.Socially professional figures such as that of the personal assistant represent a profitable and sustainable investment in the context of the care and provision of services, since, from the professional practice of Social Work, as well as from the academic prism or researcher, it is a bet so that people in dependency can carry out their life project with freedom and independence. Therefore, this work aims on the one hand to make visible the needs perceived and expressed by the elderly and/or in a situation of dependence, as well as their demands and, on the other hand, to define a new professional figure conceptualized as Technical of Personal Autonomy and Prevention of dependency (TAP) that responds to the challenges posed through the implementation of new interventions based on the paradigm of universal accessibility and design for all people.Nos encontramos en un contexto sociodemográfico en el que aumenta progresivamente el número de personas que necesitan de cuidados, principalmente personas mayores de 65 años, colectivo mayoritario en la actualidad, en España. Ello genera que aparezcan nuevas demandas y expectativas sobre la atención prestada. Esto supone para la intervención social enfrentarse a un gran reto. Hasta el momento, las formas de intervención social y de atención proporcionados por el sistema, no parecen cubrir con plenitud las necesidades emergentes, fundamentalmente por su escasa adaptación a los nuevos contextos sociales y estilos de vida. Socialmente figuras profesionales como la del/ de la asistente personal suponen una inversión provechosa y sostenible en el contexto de la atención y prestación de servicios, puesto que, desde la praxis profesional del Trabajo Social, así como desde el prisma académico o investigador, supone una apuesta para que las personas en situación de dependencia puedan llevar a cabo su proyecto de vida con libertad e independencia. Por ello, en este trabajo se pretende por un lado visibilizar las necesidades percibidas y expresadas por las personas mayores y/o en situación de dependencia, así como sus demandas  y, por otro, definir  una nueva figura profesional conceptualizada como Técnico/a de Autonomía Personal y Prevención de la Dependencia (TAP) que de respuesta a los retos planteados a través de la implementación de las nuevas intervenciones basadas en el paradigma de accesibilidad universal y diseño para todas las personas

Nano-based approved pharmaceuticals for cancer treatment : present and future challenges

Altres ajuts: RICORS RD21/0012/0001 (co-funded by the European Regional Development Fund, "A way to make Europe"); Fundación Mutua Madrileña (FMMA) through the project "Targeted therapy for selective elimination of metastatic stem cells CXCR4+ in endometrial cancer" (AP1666942017); Asociación Española contra el cancer (AECC) through the project "Development of an antitumor protein delivery system into ovarian cancer cells using the subcellular vault" (IDEAS18038BENI)Cancer is one of the main causes of death worldwide. To date, and despite the advances in conventional treatment options, therapy in cancer is still far from optimal due to the non-specific systemic biodistribution of antitumor agents. The inadequate drug concentrations at the tumor site led to an increased incidence of multiple drug resistance and the appearance of many severe unde-sirable side effects. Nanotechnology, through the development of nanoscale-based pharmaceuticals, has emerged to provide new and innovative drugs to overcome these limitations. In this review, we provide an overview of the approved nanomedicine for cancer treatment and the rationale behind their designs and applications. We also highlight the new approaches that are currently under investigation and the perspectives and challenges for nanopharmaceuticals, focusing on the tumor microenvironment and tumor disseminate cells as the most attractive and effective strategies for cancer treatments

Industrial Application of Nanocelluloses in Papermaking: A Review of Challenges, Technical Solutions, and Market Perspectives

Nanocelluloses (NC) increase mechanical and barrier paper properties allowing the use of paper in applications actually covered by other materials. Despite the exponential increase of information, NC have not been fully implemented in papermaking yet, due to the challenges of using NC. This paper provides a review of the main new findings and emerging possibilities in this field by focusing mainly on: (i) Decoupling the effects of NC on wet-end and paper properties by using synergies with retention aids, chemical modification, or filler preflocculation; (ii) challenges and solutions related to the incorporation of NC in the pulp suspension and its effects on barrier properties; and (iii) characterization needs of NC at an industrial scale. The paper also includes the market perspectives. It is concluded that to solve these challenges specific solutions are required for each paper product and process, being the wet-end optimization the key to decouple NC effects on drainage and paper properties. Furthermore, the effect of NC on recyclability must also be taken into account to reach a compromise solution. This review helps readers find upscale options for using NC in papermaking and identify further research needs within this field

Descripción de los niveles de Burnout en diferentes colectivos profesionales

El interés en la investigación del Burnout proviene del hecho de tratarse de un problema social que afecta a muchas personas. Los datos epidemiológicos sobre el síndrome hablan de un pro- blema de tal magnitud, que conlleva consecuencias personales y laborales negativas. Este hecho justifica por sí mismo que el desarrollo investigador haya crecido de manera considerable en es- tos últimos años. Si bien es cierto que existen diversos colectivos profesionales de riesgo de pa- decimiento del síndrome de Burnout, también lo es, que los niveles del mismo en sus diferentes dimensiones, suelen cambiar, e incluso la secuenciación en las mismas en la aparición del pro- blema, se puede ver alterada. El objetivo de este trabajo es describir comparativamente los nive- les de Burnout en cuatro muestras, una de población general y tres de profesionales, docentes, sanitarios y miembros de las Fuerzas Armadas

Antiretroviral therapy duration and immunometabolic state determine efficacy of ex vivo dendritic cell-based treatment restoring functional HIV-specific CD8+ T cells in people living with HIV.

Dysfunction of CD8+ T cells in people living with HIV-1 (PLWH) receiving anti-retroviral therapy (ART) has restricted the efficacy of dendritic cell (DC)-based immunotherapies against HIV-1. Heterogeneous immune exhaustion and metabolic states of CD8+ T cells might differentially associate with dysfunction. However, specific parameters associated to functional restoration of CD8+ T cells after DC treatment have not been investigated. We studied association of restoration of functional HIV-1-specific CD8+ T cell responses after stimulation with Gag-adjuvant-primed DC with ART duration, exhaustion, metabolic and memory cell subsets profiles. HIV-1-specific CD8+ T cell responses from a larger proportion of PLWH on long-term ART (more than 10 years; LT-ARTp) improved polyfunctionality and capacity to eliminate autologous p24+ infected CD4+ T cells in vitro. In contrast, functional improvement of CD8+ T cells from PLWH on short-term ART (less than a decade; ST-ARTp) after DC treatment was limited. This was associated with lower frequencies of central memory CD8+ T cells, increased co-expression of PD1 and TIGIT and reduced mitochondrial respiration and glycolysis induction upon TCR activation. In contrast, CD8+ T cells from LT-ARTp showed increased frequencies of TIM3+ PD1- cells and preserved induction of glycolysis. Treatment of dysfunctional CD8+ T cells from ST-ARTp with combined anti-PD1 and anti-TIGIT antibodies plus a glycolysis promoting drug restored their ability to eliminate infected CD4+ T cells. Together, our study identifies specific immunometabolic parameters for different PLWH subgroups potentially useful for future personalized DC-based HIV-1 vaccines. NIH (R21AI140930), MINECO/FEDER RETOS (RTI2018-097485-A-I00) and CIBERINF grants.NIH (R21AI140930), MINECO/FEDER RETOS (RTI2018-097485-A-I00) and CIBERINF grants. We would like to thank the NIH AIDS Reagent Pro- gram, Division of AIDS, NIAID, NIH for providing HIV-1 PTE Gag Peptide Pool from NIAID, DAIDS (cat #11057) for the study. We would also like to thank Alvaro Serrano Navarro, for his help on adapting the lin- ear mixed model previously described by Martin- C ofreces N. et al83 to our data. Graphical schematic rep- resentations were created with BioRender.com. EMG was supported by the NIH R21 program (R21AI140930), the Ramón y Cajal Program (RYC2018- 024374-I), the MINECO/FEDER RETOS program (RTI2018-097485-A-I00), by Comunidad de Madrid Talento Program (2017-T1/BMD-5396) and by Gilead becas de investigaci on (GLD19/00168). EMG and IDS are supported by Centro de Investigación Biomédica en Red (CIBERINF) de Enfermedades Infecciosas (CB21/ 13/00107). MCM was supported by NIH R21 program (R21AI140930), “La Caixa Banking Foundation (H20- 00218) and Gilead becas de investigaci on (GLD19/ 00168). MJB is supported by the Miguel Servet program funded by the Spanish Health Institute Carlos III (CP17/00179), the MINECO/FEDER RETOS program (RTI2018-101082-B-100), and Fundació La Marat o TV3 (201805-10FMTV3). EMG and MJB are both funded by “La Caixa Banking Foundation (H20-00218) and by REDINCOV grant from Fundació La Marat o TV3. FSM was supported by SAF2017-82886-R and PDI-2020- 120412RB-I00 grants from the Ministerio de Ciencia e Innovaci on, and HR17-00016 grant from “La Caixa Banking Foundation. HF was funded by PI21/01583 grant from Ministerio de Ciencia e Innovación, Instituto de Salud Carlos III. MJC was supported by PID2019- 104406RB-I00 from Ministerio de Ciencia e Innovación. ISC was funded by the CM21/00157 Rio- Hortega grant. IT was supported by grant for the pro- motion of research studies master-UAM 2021.S

An evaluation of pipelines for DNA variant detection can guide a reanalysis protocol to increase the diagnostic ratio of genetic diseases

Clinical exome (CE) sequencing has become a first-tier diagnostic test for hereditary diseases; however, its diagnostic rate is around 30–50%. In this study, we aimed to increase the diagnostic yield of CE using a custom reanalysis algorithm. Sequencing data were available for three cohorts using two commercial protocols applied as part of the diagnostic process. Using these cohorts, we compared the performance of general and clinically relevant variant calling and the efficacy of an in-house bioinformatic protocol (FJD-pipeline) in detecting causal variants as compared to commercial protocols. On the whole, the FJD-pipeline detected 99.74% of the causal variants identified by the commercial protocol in previously solved cases. In the unsolved cases, FJD-pipeline detects more INDELs and non-exonic variants, and is able to increase the diagnostic yield in 2.5% and 3.2% in the re-analysis of 78 cancer and 62 cardiovascular cases. These results were considered to design a reanalysis, filtering and prioritization algorithm that was tested by reassessing 68 inconclusive cases of monoallelic autosomal recessive retinal dystrophies increasing the diagnosis by 4.4%. In conclusion, a guided NGS reanalysis of unsolved cases increases the diagnostic yield in genetic disorders, making it a useful diagnostic tool in medical geneticsWe want to thank the participants for consenting to the use of their data for the study. We would like to thank all technical staff in the genetics service of the Fundación Jiménez Díaz University Hospital for conducting the sequencing and segregation analysis. We also thank Oliver Shaw (IIS-FJD) for editorial assistance. This work was supported by the Instituto de Salud Carlos III (ISCIII) of the Spanish Ministry of Health (FIS; PI16/00425, PI19/00321, PI18/00579 and PI20/00851), Centro de Investigación Biomédica en Red Enfermedades Raras (CIBERER, 06/07/0036), IIS-FJD BioBank (PT13/0010/0012), Comunidad de Madrid (CAM, RAREGenomics Project, B2017/BMD-3721), Ramón Areces Foundation (4019/012), Conchita Rábago Foundation, and the University Chair UAM-IIS-FJD of Genomic Medicine. R.R. is supported by a postdoctoral fellowship of the Comunidad de Madrid (2019-T2/BMD-13714), L.d.l.F. is supported by the platform technician contract of ISCIII (CA18/00017), IPR is supported by a PhD studentship from the predoctoral program from ISCIII (FI17/ 00192), I.F.I. is supported by a grant from the Comunidad de Madrid (CAM, PEJ-2017- AI/BMD7256), G.N.M. is supported by a grant from the Comunidad de Madrid (PEJ2020-AI/BMD-18610), A.D. is supported by a PhD studentship from the predoctoral program from ISCIII (FI18/00123), B.A. is supported by a Juan Rodes program from ISCIII (JR17/00020), C.R. is supported by a PhD studentship from the Conchita Rabago Foundation and PM and MC are supported by a Miguel Servet program contract from ISCIII (CP16/00116 and CPII17/00006, respectively). The funders played no role in study design, data collection, data analysis, manuscript preparation, and/or publication decision

Metabolomic-Based Noninvasive Serum Test to Diagnose Nonalcoholic Steatohepatitis: Results From Discovery and Validation Cohorts

Nonalcoholic fatty liver disease (NAFLD) is the most common type of chronic liver disease worldwide and includes a broad spectrum of histologic phenotypes, ranging from simple hepatic steatosis or nonalcoholic fatty liver (NAFL) to nonalcoholic steatohepatitis (NASH). While liver biopsy is the reference gold standard for NAFLD diagnosis and staging, it has limitations due to its sampling variability, invasive nature, and high cost. Thus, there is a need for noninvasive biomarkers that are robust, reliable, and cost effective. In this study, we measured 540 lipids and amino acids in serum samples from biopsy-proven subjects with normal liver (NL), NAFL, and NASH. Using logistic regression analysis, we identified two panels of triglycerides that could first discriminate between NAFLD and NL and second between NASH and NAFL. These noninvasive tests were compared to blinded histology as a reference standard. We performed these tests in an original cohort of 467 patients with NAFLD (90 NL, 246 NAFL, and 131 NASH) that was subsequently validated in a separate cohort of 192 patients (7 NL, 109 NAFL, 76 NASH). The diagnostic performances of the validated tests showed an area under the receiver operating characteristic curve, sensitivity, and specificity of 0.88 +/- 0.05, 0.94, and 0.57, respectively, for the discrimination between NAFLD and NL and 0.79 +/- 0.04, 0.70, and 0.81, respectively, for the discrimination between NASH and NAFL. When the analysis was performed excluding patients with glucose levels >136 mg/dL, the area under the receiver operating characteristic curve for the discrimination between NASH and NAFL increased to 0.81 +/- 0.04 with sensitivity and specificity of 0.73 and 0.80, respectively. Conclusion: The assessed noninvasive lipidomic serum tests distinguish between NAFLD and NL and between NASH and NAFL with high accuracy.Supported by the National Institutes of Health Blueprint for Neuroscience Research (R01AT001576 to S.C.L., J.M.M.), Agencia Estatal de Investigacion of the Ministerio de Economia, Industria y Competitividad (SAF2014-52097R to J.M.M.), CIBER Hepatic and Digestive Diseases and Instituto de Salud Carlos III (PIE14/0003 to J.M.M.), Etorgai 2015-Gobierno Vasco (ER-2015/00015 to R.M., I.M.A., C.A., A.C.), Plan de Promocion de la Innovacion 2015-Diputacion Foral de Bizkaia (6/12/IN/2015/00131 to A.C., C.A.), National Institute of Diabetes and Digestive and Kidney Diseases (RO1DK81410 to A.J.S.), and Czech Ministry of Health (RVO VFN64165 to L.V.)

Identifying sustainability priorities among value chain actors in artisanal common octopus fisheries

The United Nations (UN) Decade of Ocean Science highlights a need to improve the way in which scientific results effectively inform action and policies regarding the ocean. Our research contributes to achieving this goal by identifying practical actions, barriers, stakeholder contributions and resources required to increase the sustainability of activities carried out in the context of artisanal fisheries to meet UN Sustainable Development Goals (SDG) and International Year of Artisanal Fisheries and Aquaculture (IYAFA) Global Action Plan (GAP) Pillar targets. We conducted a novel ‘social value chain analysis’ via a participatory workshop to elicit perspectives of value chain actors and fisheries stakeholders associated with two Spanish artisanal common octopus (Octopus vulgaris) fisheries (western Asturias—Marine Stewardship Council [MSC] certified, and Galicia—non-MSC certified) about their priorities regarding sustainable octopus production and commercializationOpen Access funding provided thanks to the CRUE-CSIC agreement with Springer Nature. The authors acknowledge the financial support from the Cephs and Chefs Project (https://www.cephsandchefs.com/) funded by the European Regional Development Fund (https://ec.europa.eu/regional_policy/en/funding/erdf/) through the Interreg Atlantic Area Programme grant number EAPA_282/2016. CP, TF, KR and DC would also like to acknowledge financial support to CESAM by FCT/MCTES (UIDP/50017/2020 + UIDB/50017/2020 + LA/P/0094/2020), through national funds. CP acknowledges the FCT research contract 2020.02510.CEECIND. SV and PP acknowledge the financial support from the Xunta de Galicia (https://www.xunta.gal/portada) (RECREGES II project under Grant 1400 ED481B2018/017 and Grupo de Referencia Competitiva GI-2060 AEMI, under Grant 1401 ED431C2019/11). The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscriptS