328 results on '"Sobrido, María"'
Search Results
2. Thalamic atrophy in patients with pure hereditary spastic paraplegia type 4
- Author
-
Navas-Sánchez, Francisco J., Fernández-Pena, Alberto, Martín de Blas, Daniel, Alemán-Gómez, Yasser, Marcos-Vidal, Luís, Guzmán-de-Villoria, Juan A., Fernández-García, Pilar, Romero, Julia, Catalina, Irene, Lillo, Laura, Muñoz-Blanco, José L., Ordoñez-Ugalde, Andrés, Quintáns, Beatriz, Pardo, Julio, Sobrido, María-Jesús, Carmona, Susanna, Grandas, Francisco, and Desco, Manuel
- Published
- 2021
- Full Text
- View/download PDF
3. Chimeric Peptide Species Contribute to Divergent Dipeptide Repeat Pathology in c9ALS/FTD and SCA36
- Author
-
McEachin, Zachary T., Gendron, Tania F., Raj, Nisha, García-Murias, María, Banerjee, Anwesha, Purcell, Ryan H., Ward, Patricia J., Todd, Tiffany W., Merritt-Garza, Megan E., Jansen-West, Karen, Hales, Chadwick M., García-Sobrino, Tania, Quintáns, Beatriz, Holler, Christopher J., Taylor, Georgia, San Millán, Beatriz, Teijeira, Susana, Yamashita, Toru, Ohkubo, Ryuichi, Boulis, Nicholas M., Xu, Chongchong, Wen, Zhexing, Streichenberger, Nathalie, Fogel, Brent L., Kukar, Thomas, Abe, Koji, Dickson, Dennis W., Arias, Manuel, Glass, Jonathan D., Jiang, Jie, Tansey, Malú G., Sobrido, María-Jesús, Petrucelli, Leonard, Rossoll, Wilfried, and Bassell, Gary J.
- Published
- 2020
- Full Text
- View/download PDF
4. Cytotoxicity and concentration of silver ions released from dressings in the treatment of infected wounds: a systematic review
- Author
-
Sánchez-Gálvez, Javier, Martínez-Isasi, Santiago, Gómez Salgado, Juan, Rumbo Prieto, José María, Sobrido, María, Sánchez-Hernández, Miriam, García-Martínez, María, Fernández-García, Daniel, Sánchez-Gálvez, Javier, Martínez-Isasi, Santiago, Gómez Salgado, Juan, Rumbo Prieto, José María, Sobrido, María, Sánchez-Hernández, Miriam, García-Martínez, María, and Fernández-García, Daniel
- Abstract
[Abstract] Introduction: Silver-releasing dressings are used in the treatment of infected wounds. Despite their widespread use, neither the amount of silver released nor the potential in vivo toxicity is known. The aim of this study was to evaluate the cytotoxic effects and the amount of silver released from commercially available dressings with infected wounds. Methods: The review was conducted according to the PRISMA statement. The Web of Science, PubMed, Embase, Scopus, and CINAHL databases were searched for studies from 2002 through December 2022. The criteria were as follows: population (human patients with infected wounds); intervention (commercial dressings with clinical silver authorized for use in humans); and outcomes (concentrations of silver ions released into tissues and plasma). Any study based on silver-free dressings, experimental dressings, or dressings not for clinical use in humans should be excluded. According to the type of study, systematic reviews, experimental, quasi-experimental, and observational studies in English, Spanish, or Portuguese were considered. The quality of the selected studies was assessed using the JBI critical appraisal tools. Studies that assessed at least 65% of the included items were included. Data were extracted independently by two reviewers. Results: 740 articles were found and five were finally selected (all of them quasi-experimental). Heterogeneity was found in terms of study design, application of silver dressings, and methods of assessment, which limited the comparability between studies. Conclusion: In vivo comparative studies of clinical dressings for control of infection lack a standardized methodology that allows observation of all the variables of silver performance at local and systemic levels, as well as evaluation of its cytotoxicity. It cannot be concluded whether the assessed concentrations of released silver in commercial dressings for the topical treatment of infected wounds are cytotoxic to skin cell
- Published
- 2024
5. Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export.
- Author
-
Legati, Andrea, Giovannini, Donatella, Nicolas, Gaël, López-Sánchez, Uriel, Quintáns, Beatriz, Oliveira, João RM, Sears, Renee L, Ramos, Eliana Marisa, Spiteri, Elizabeth, Sobrido, María-Jesús, Carracedo, Ángel, Castro-Fernández, Cristina, Cubizolle, Stéphanie, Fogel, Brent L, Goizet, Cyril, Jen, Joanna C, Kirdlarp, Suppachok, Lang, Anthony E, Miedzybrodzka, Zosia, Mitarnun, Witoon, Paucar, Martin, Paulson, Henry, Pariente, Jérémie, Richard, Anne-Claire, Salins, Naomi S, Simpson, Sheila A, Striano, Pasquale, Svenningsson, Per, Tison, François, Unni, Vivek K, Vanakker, Olivier, Wessels, Marja W, Wetchaphanphesat, Suppachok, Yang, Michele, Boller, Francois, Campion, Dominique, Hannequin, Didier, Sitbon, Marc, Geschwind, Daniel H, Battini, Jean-Luc, and Coppola, Giovanni
- Subjects
Humans ,Brain Diseases ,Metabolic ,Inborn ,Neurodegenerative Diseases ,Calcinosis ,Genetic Predisposition to Disease ,Receptors ,G-Protein-Coupled ,Receptors ,Virus ,Pedigree ,DNA Mutational Analysis ,Lod Score ,Mutation ,Missense ,Middle Aged ,Female ,Male ,Genetic Association Studies ,HEK293 Cells ,Xenotropic and Polytropic Retrovirus Receptor ,Neurosciences ,Rare Diseases ,2.1 Biological and endogenous factors ,Aetiology ,Biological Sciences ,Medical and Health Sciences ,Developmental Biology - Abstract
Primary familial brain calcification (PFBC) is a neurological disease characterized by calcium phosphate deposits in the basal ganglia and other brain regions and has thus far been associated with SLC20A2, PDGFB or PDGFRB mutations. We identified in multiple families with PFBC mutations in XPR1, a gene encoding a retroviral receptor with phosphate export function. These mutations alter phosphate export, implicating XPR1 and phosphate homeostasis in PFBC.
- Published
- 2015
6. SARAEasy: A Mobile App for Cerebellar Syndrome Quantification and Characterization
- Author
-
Maarouf, Haitham, López, Vanessa, Sobrido, Maria J., Martínez, Diego, Taboada, Maria, Hutchison, David, Series Editor, Kanade, Takeo, Series Editor, Kittler, Josef, Series Editor, Kleinberg, Jon M., Series Editor, Mattern, Friedemann, Series Editor, Mitchell, John C., Series Editor, Naor, Moni, Series Editor, Pandu Rangan, C., Series Editor, Steffen, Bernhard, Series Editor, Terzopoulos, Demetri, Series Editor, Tygar, Doug, Series Editor, Weikum, Gerhard, Series Editor, Rojas, Ignacio, editor, and Ortuño, Francisco, editor
- Published
- 2018
- Full Text
- View/download PDF
7. Mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcification
- Author
-
Hsu, Sandy Chan, Sears, Renee L, Lemos, Roberta R, Quintáns, Beatriz, Huang, Alden, Spiteri, Elizabeth, Nevarez, Lisette, Mamah, Catherine, Zatz, Mayana, Pierce, Kerrie D, Fullerton, Janice M, Adair, John C, Berner, Jon E, Bower, Matthew, Brodaty, Henry, Carmona, Olga, Dobricić, Valerija, Fogel, Brent L, García-Estevez, Daniel, Goldman, Jill, Goudreau, John L, Hopfer, Suellen, Janković, Milena, Jaumà, Serge, Jen, Joanna C, Kirdlarp, Suppachok, Klepper, Joerg, Kostić, Vladimir, Lang, Anthony E, Linglart, Agnès, Maisenbacher, Melissa K, Manyam, Bala V, Mazzoni, Pietro, Miedzybrodzka, Zofia, Mitarnun, Witoon, Mitchell, Philip B, Mueller, Jennifer, Novaković, Ivana, Paucar, Martin, Paulson, Henry, Simpson, Sheila A, Svenningsson, Per, Tuite, Paul, Vitek, Jerrold, Wetchaphanphesat, Suppachok, Williams, Charles, Yang, Michele, Schofield, Peter R, de Oliveira, João RM, Sobrido, María-Jesús, Geschwind, Daniel H, and Coppola, Giovanni
- Subjects
Biological Sciences ,Biomedical and Clinical Sciences ,Genetics ,Neurodegenerative ,Human Genome ,Clinical Research ,Neurosciences ,Genetic Testing ,Prevention ,Aetiology ,2.1 Biological and endogenous factors ,Neurological ,Adult ,Aged ,Amino Acid Sequence ,Basal Ganglia Diseases ,Calcinosis ,Cohort Studies ,DNA Mutational Analysis ,Family ,Female ,Humans ,Linkage Disequilibrium ,Male ,Middle Aged ,Models ,Biological ,Molecular Sequence Data ,Mutation ,Neurodegenerative Diseases ,Retrospective Studies ,Sodium-Phosphate Cotransporter Proteins ,Type III ,Basal ganglia calcification ,Fahr's ,Sequencing ,Mutations ,Cognitive Sciences ,Neurology & Neurosurgery ,Clinical sciences - Abstract
Familial idiopathic basal ganglia calcification (IBGC) or Fahr's disease is a rare neurodegenerative disorder characterized by calcium deposits in the basal ganglia and other brain regions, which is associated with neuropsychiatric and motor symptoms. Familial IBGC is genetically heterogeneous and typically transmitted in an autosomal dominant fashion. We performed a mutational analysis of SLC20A2, the first gene found to cause IBGC, to assess its genetic contribution to familial IBGC. We recruited 218 subjects from 29 IBGC-affected families of varied ancestry and collected medical history, neurological exam, and head CT scans to characterize each patient's disease status. We screened our patient cohort for mutations in SLC20A2. Twelve novel (nonsense, deletions, missense, and splice site) potentially pathogenic variants, one synonymous variant, and one previously reported mutation were identified in 13 families. Variants predicted to be deleterious cosegregated with disease in five families. Three families showed nonsegregation with clinical disease of such variants, but retrospective review of clinical and neuroimaging data strongly suggested previous misclassification. Overall, mutations in SLC20A2 account for as many as 41% of our familial IBGC cases. Our screen in a large series expands the catalog of SLC20A2 mutations identified to date and demonstrates that mutations in SLC20A2 are a major cause of familial IBGC. Non-perfect segregation patterns of predicted deleterious variants highlight the challenges of phenotypic assessment in this condition with highly variable clinical presentation.
- Published
- 2013
8. Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration
- Author
-
Wan, Jijun, Yourshaw, Michael, Mamsa, Hafsa, Rudnik-Schöneborn, Sabine, Menezes, Manoj P, Hong, Ji Eun, Leong, Derek W, Senderek, Jan, Salman, Michael S, Chitayat, David, Seeman, Pavel, von Moers, Arpad, Graul-Neumann, Luitgard, Kornberg, Andrew J, Castro-Gago, Manuel, Sobrido, María-Jesús, Sanefuji, Masafumi, Shieh, Perry B, Salamon, Noriko, Kim, Ronald C, Vinters, Harry V, Chen, Zugen, Zerres, Klaus, Ryan, Monique M, Nelson, Stanley F, and Jen, Joanna C
- Subjects
Biological Sciences ,Genetics ,Clinical Research ,Pediatric ,Neurosciences ,Neurodegenerative ,Neurological ,Animals ,Cerebellum ,Exosome Multienzyme Ribonuclease Complex ,Exosomes ,Gene Knockdown Techniques ,Humans ,Motor Neurons ,Nerve Degeneration ,Olivopontocerebellar Atrophies ,Pons ,RNA ,RNA-Binding Proteins ,Spinal Nerves ,Zebrafish ,Medical and Health Sciences ,Developmental Biology ,Agricultural biotechnology ,Bioinformatics and computational biology - Abstract
RNA exosomes are multi-subunit complexes conserved throughout evolution and are emerging as the major cellular machinery for processing, surveillance and turnover of a diverse spectrum of coding and noncoding RNA substrates essential for viability. By exome sequencing, we discovered recessive mutations in EXOSC3 (encoding exosome component 3) in four siblings with infantile spinal motor neuron disease, cerebellar atrophy, progressive microcephaly and profound global developmental delay, consistent with pontocerebellar hypoplasia type 1 (PCH1; MIM 607596). We identified mutations in EXOSC3 in an additional 8 of 12 families with PCH1. Morpholino knockdown of exosc3 in zebrafish embryos caused embryonic maldevelopment, resulting in small brain size and poor motility, reminiscent of human clinical features, and these defects were largely rescued by co-injection with wild-type but not mutant exosc3 mRNA. These findings represent the first example of an RNA exosome core component gene that is responsible for a human disease and further implicate dysregulation of RNA processing in cerebellar and spinal motor neuron maldevelopment and degeneration.
- Published
- 2012
9. A Pentanucleotide ATTTC Repeat Insertion in the Non-coding Region of DAB1, Mapping to SCA37, Causes Spinocerebellar Ataxia
- Author
-
Seixas, Ana I., Loureiro, Joana R., Costa, Cristina, Ordóñez-Ugalde, Andrés, Marcelino, Hugo, Oliveira, Cláudia L., Loureiro, José L., Dhingra, Ashutosh, Brandão, Eva, Cruz, Vitor T., Timóteo, Angela, Quintáns, Beatriz, Rouleau, Guy A., Rizzu, Patrizia, Carracedo, Ángel, Bessa, José, Heutink, Peter, Sequeiros, Jorge, Sobrido, Maria J., Coutinho, Paula, and Silveira, Isabel
- Published
- 2017
- Full Text
- View/download PDF
10. Phenotypical features of a new dominant GDAP1 pathogenic variant (p.R226del) in axonal Charcot-Marie-Tooth disease
- Author
-
García-Sobrino, Tania, Blanco-Arias, Patricia, Palau, Francesc, Espinós, Carmen, Ramirez, Laura, Estela, Anna, San Millán, Beatriz, Arias, Manuel, Sobrido, María-Jesús, and Pardo, Julio
- Published
- 2017
- Full Text
- View/download PDF
11. Synaptotagmin XI in Parkinson's disease: New evidence from an association study in Spain and Mexico
- Author
-
Sesar, Angel, Cacheiro, Pilar, López-López, Marisol, Camiña-Tato, Montserrat, Quintáns, Beatriz, Monroy-Jaramillo, Nancy, Alonso-Vilatela, María-Elisa, Cebrián, Ernesto, Yescas-Gómez, Petra, Ares, Begoña, Rivas, María-Teresa, Castro, Alfonso, Carracedo, Angel, and Sobrido, María-Jesús
- Published
- 2016
- Full Text
- View/download PDF
12. Revistas de enfermería: presencia, visibilidad y calidad. Estudio descriptivo
- Author
-
Sobrido, María, Martínez-Isasi, Santiago, Gómez Salgado, Juan, Montero Salinas, Alejandro, Fernández-García, Daniel, Sobrido, María, Martínez-Isasi, Santiago, Gómez Salgado, Juan, Montero Salinas, Alejandro, and Fernández-García, Daniel
- Abstract
[Resumen] Introducción: las revistas científicas son el principal canal a través del cual se comparten los avances clínicos, se intercambian opiniones y se proponen teorías. El objetivo de este manuscrito fue determinar la situación de las revistas de enfermería. Esto es presencia, visibilidad y prestigio. Materiales y métodos: en mayo de 2022 se llevó a cabo una selección de revistas de enfermería a partir de la base de datos ULRICH. Los criterios de selección fueron revistas revisadas por pares, activas en el momento de la consulta. Del listado final se analizó: visibilidad (idioma de publicación y presencia en bases de datos internacionales), accesibilidad (suscripción, gratuidad y libre acceso) y prestigio (editorial y factor de impacto). Resultados: 374 revistas cumplieron los criterios. El 70% estaban indexadas en, al menos, una base de datos. El 55,3% permiten el acceso al texto completo. Un 46% están incorporadas a Journal Citation Reports.Conclusión: el número de revistas es adecuado, aunque las publicaciones deben ajustarse cada vez más a los mínimos establecidos por bases de datos y políticas editoriales internacionales de libre acceso., [Abstract] Background: Nursing journals are the main channel where researchers share their clinical development, opinions and theories. The aim of this study was to determine the situation of nursing journals. There are presence, visibility and prestige. Materials and methods: In May 2022 selection of nursing journals was carried out using the Ulrich database. The inclusion criteria were active peer-reviewed journals at the time of consultation. From the final list, the following were analyzed: visibility (language and presence in international databases), accessibility (subscription, free and open access,) and prestige (publisher and impact factor). Results: 374 journals met the criteria. 70% were indexed in at least one database. 55.3% allow access to full text. 46% are incorporated to Journal Citation Reports. Conclusion: The number of journals is adequate, although the publications must increasingly comply with the minimums established by databases and international open access editorial policies.
- Published
- 2023
13. Brief Training of Technical Bleeding Control Skills—A Pilot Study with Security Forces
- Author
-
Sobrido, María and Sobrido, María
- Abstract
[Resumen] Uncontrolled external bleeding is a common cause of preventable death, and due to the environment in which these events often occur, e.g., in hostile environments, the state security forces are usually the first responders, and in many cases, if they are injured their partners provide the initial assistance. The tourniquet is a fast, effective, and easy-to-learn intervention, although there is a knowledge gap concerning training techniques. The objective is to evaluate the effectiveness of a bleeding control training program on a high-fidelity mannequin in a simulated critical situation in a law enforcement training environment. A quasi-experimental study was carried out with 27 members of the state security forces. They underwent brief theoretical–practical training and were evaluated via a scenario involving a critically ill patient in a hostile environment. The results showed that no member of the state security forces completed all the tourniquet placement steps, 26 (96%) prepared the tourniquet correctly, 21 (77.8%) placed it on the leg, and all the participants adjusted the band to the thickness of the injured limb and secured the windlass to the triangular flange of the device. However, only 23 (85.2%) of the participants placed it effectively. The participants, who were members of the state security forces, were able to effectively resolve a critical situation with active bleeding in a simulation scenario with a high-fidelity mannequin after completing theoretical–practical training.
- Published
- 2023
14. Investigación de las tesis doctorales de Enfermería relacionadas con el deterioro de la integridad cutánea en España
- Author
-
Sobrido, María, Sánchez-Gálvez, Javier, Mateo-Ramírez, Francisco, Martínez-Isasi, Santiago, Fernández-García, Daniel, Sobrido, María, Sánchez-Gálvez, Javier, Mateo-Ramírez, Francisco, Martínez-Isasi, Santiago, and Fernández-García, Daniel
- Abstract
[Resumen] Objetivo: El objetivo de este estudio fue eva-luar la producción científica doctoral de enfer-mería relacionada con el deterioro de la integri-dad de la piel, analizando la temática y los tipos de lesiones en las que se centran.Metodología: Estudio descriptivo, observa-cional, retrospectivo. Se realizó una búsque-da en la Base de datos de Tesis Doctorales del Ministerio de Universidades de España con las palabras clave “Úlcera”, “Herida”, “Pie diabético”, “Ostomía”, “Quemaduras, “Quemadura”, “Que-mado” y “Deterioro de la integridad cutánea”. Se desarrolló una revisión por pares para la selec-ción de tesis y la extracción de datos, siguiendo los criterios de elegibilidad.Resultados: Se seleccionaron 159 tesis, 56 de ellas realizadas por enfermeras. Se determinó que la mayor parte de las tesis analizadas (54%) se realizaron entre los cursos 2013-2014 y 2021-2022 y que el 47,6% de las mismas eran tesis rea-lizadas por enfermeras. Según el tipo de lesión las tesis analizadas comprendieron por orden de frecuencia ulceras por presión (57,1%), úlceras vasculares (10,7%), ostomías (3,6%), úlceras de pie diabético (3,6%), quemaduras (1,8%) y heri-das quirúrgicas (1,8%)Conclusión: Se observa que las tesis docto-rales de Enfermería se centran sobre todo en úlceras por presión y son en su mayoría de tipo descriptivo (prevención, la incidencia, la calidad de vida, la medición del nivel de conocimientos y la determinación de la carga asistencial), [Abstract] Aim: The aim of this study is to evaluate the doctoral scientific production of Nursing in re-lation to impaired skin integrity, analyzing the subject matter and the types of lesions on which they focus.Methods: Descriptive, observational, retro-spective study. A search was performed in the Database of Doctoral Theses of the Spanish Mi-nistry of Universities with the keywords “Ulcer”, “Wound”, “Diabetic foot”, “Ostomy”, “Burns”, “Burn”, “Burned” and “Deterioration of skin in-tegrity”. A peer review was developed for thesis selection and data extraction, following the eligi-bility criteria.Results: 159 theses were selected, 56 of them by nurses. It was determined that most of the theses analyzed (54%) were performed between the academic years 2013-2014 and 2021-2022 and 47.6% of them were nurse theses. By type of injury 57.1% were pressure ulcers, 10.7% were vascular ulcers, 3.6% were ostomies, another 3.6% were diabetic foot ulcers, 1.8% were burns and 1.8% were surgical wounds.Conclusion: It is observed that Nursing doc-toral theses focus mainly on pressure ulcers and are mostly descriptive (prevention, incidence, quality of life, measurement of the level of know-ledge and determination of the burden of care)
- Published
- 2023
15. Severe neurometabolic phenotype in npc1−/− zebrafish with a C-terminal mutation
- Author
-
Universidade de Santiago de Compostela. Departamento de Zooloxía, Xenética e Antropoloxía Física, Quelle Regaldie, Ana, Gandoy-Fieiras, Nerea, Rodríguez Villamayor, Paula, Maceiras, Sandra, Losada, Ana Paula, Cabezas Sáinz, Pablo, Barreiro Iglesias, Antón, Villar-López, María, Quiroga Berdeal, María Isabel, Sánchez Piñón, Laura, Sobrido, María Jesús, Folgueira, Mónica, Universidade de Santiago de Compostela. Departamento de Zooloxía, Xenética e Antropoloxía Física, Quelle Regaldie, Ana, Gandoy-Fieiras, Nerea, Rodríguez Villamayor, Paula, Maceiras, Sandra, Losada, Ana Paula, Cabezas Sáinz, Pablo, Barreiro Iglesias, Antón, Villar-López, María, Quiroga Berdeal, María Isabel, Sánchez Piñón, Laura, Sobrido, María Jesús, and Folgueira, Mónica
- Abstract
Niemann Pick disease type C (NPC) is an autosomal recessive neurodegenerative lysosomal disorder characterized by an accumulation of lipids in different organs. Clinical manifestations can start at any age and include hepatosplenomegaly, intellectual impairment, and cerebellar ataxia. NPC1 is the most common causal gene, with over 460 different mutations with heterogeneous pathological consequences. We generated a zebrafish NPC1 model by CRISPR/Cas9 carrying a homozygous mutation in exon 22, which encodes the end of the cysteine-rich luminal loop of the protein. This is the first zebrafish model with a mutation in this gene region, which is frequently involved in the human disease. We observed a high lethality in npc1 mutants, with all larvae dying before reaching the adult stage. Npc1 mutant larvae were smaller than wild type (wt) and their motor function was impaired. We observed vacuolar aggregations positive to cholesterol and sphingomyelin staining in the liver, intestine, renal tubules and cerebral gray matter of mutant larvae. RNAseq comparison between npc1 mutants and controls showed 284 differentially expressed genes, including genes with functions in neurodevelopment, lipid exchange and metabolism, muscle contraction, cytoskeleton, angiogenesis, and hematopoiesis. Lipidomic analysis revealed significant reduction of cholesteryl esters and increase of sphingomyelin in the mutants. Compared to previously available zebrafish models, our model seems to recapitulate better the early onset forms of the NPC disease. Thus, this new model of NPC will allow future research in the cellular and molecular causes/consequences of the disease and on the search for new treatments.
- Published
- 2023
16. Autorías en manuscritos científicos de terapia ocupacional: un estudio descriptivo
- Author
-
Sobrido, María, Talavera Valverde, Miguel Ángel, Souto Gómez, Ana Isabel, Sobrido, María, Talavera Valverde, Miguel Ángel, and Souto Gómez, Ana Isabel
- Abstract
[Resumen] Introducción: Los beneficios de la autoría múltiple son indudables, pero en ocasiones el número de autores es desproporcionadamente mayor que el contenido intelectual. Objetivo: Conocer la autoría media en el ámbito terapia ocupacional y valorar sus posibles determinantes. Método: Se incluyeron 19 revistas de la disciplina. Seleccionamos artículos de investigación y revisiones sistemáticas. Resultados: Encontramos una media de 3,5 autores, con un aumento de 0,9 (R2=0,86) de 2011 a 2020. El número de autorías múltiples es mayor que de autorías individuales. Los tres posibles determinantes del aumento de la autoría parecen ser: (a) la visibilidad (las revistas open access/charge aumentan el número de autorías en 40,2%); (b) el factor de impacto (las revistas JCR [Journal Citation Report] aumentan en 15,7% frente a los otros); y (c) los cuartiles (las revistas ESCI [Emerging Sources Citation Index] aparecen en el panorama de las publicaciones y las SSCI/SCI [Social Science Citation Index/ Science Citation Index]experimentan su mayor subida de 10.5% en los Q1 [Primero Cuartil]). Conclusión: Este estudio aporta por primera vez una información completa y contrastada, donde se muestra la autoría media de los artículos de terapia ocupacional y los determinantes que influyen., [Resumo] Introdução: Os benefícios da autoria múltipla são indiscutíveis, mas às vezes o número de autores é desproporcionalmente maior que o conteúdo intelectual. Objetivo: Conhecer a média de autoria no campo da terapia ocupacional e avaliar Autorías en manuscritos científicos de terapia ocupacional: un estudio descriptivo Cadernos Brasileiros de Terapia Ocupacional, 31, e3443, 2023 2 seus possíveis determinantes. Método: Foram incluídos 19 periódicos da área. Selecionamos artigos de pesquisa e revisões sistemáticas. Resultados: Encontramos uma média de 3,5 autores com aumento de 0,9 (R2=0,86) de 2011 a 2020. O número de autorias múltiplas é maior que o de autorias individuais. Os três possíveis determinantes do aumento da autoria parecem ser a: (a) visibilidade (os periódicos de acesso aberto/cobrança aumentam o número de autorias em 40,2%); (b) o fator de impacto (os periódicos JCR [Journal Citation Report] aumentam 15,7% em relação ao demais) e (c) os quartis, //periódicos ESCI [Emerging Sources Citation Index] aparecem no cenário editorial e SSCI/SCI [Social Science Citation Index/ Science Citation Index]experimentam seu maior aumento de 10,5% no primeiro quartil [Q1]). Conclusão: Este estudo fornece pela primeira vez informações confiáveis e contrastadas, mostrando a autoria média de artigos de terapia ocupacional e os determinantes que a influenciam., [Abstract] Introduction: The benefits of multiple authorship are undoubted, but sometimes the number of authors is disproportionately greater than the intellectual content. Objective: To know the average authorship in the occupational therapy field and assess its possible determinants. Method: 19 journals of the discipline were included. We select research articles and systematic reviews. Results: We found an average of 3.5 authors, with an increase of 0.9 (R2=0.86) from 2011 to 2020. The number of multiple authorships is greater than individual authorships. The three possible determinants of the increase in authorship seem to be: (a) visibility (open access/charge journals increase the number of authorships by 40.2%); (b) the impact factor (JCR [Journal Citation Report] journals increase by 15.7% compared to others) and (c) quartiles (ESCI Emerging Sources Citation Index] journals appear in the publishing landscape and SSCI/SCI [Social Science Citation Index/ Science Citation Index]experience their biggest rise of 10.5% in Q1 [First Quartile]). Conclusion: This study provides complete and contrasted information for the first time, showing the average authorship of occupational therapy articles and the determinants that influence it.
- Published
- 2023
17. Severe Neurometabolic Phenotype in NPC1−/− Zebrafish With a C-Terminal Mutation
- Author
-
Quelle Regaldie, Ana, Gandoy-Fieiras, Nerea, Villamayor, Paula R., Maceiras, Sandra, Losada, Ana, Folgueira, Mónica, Cabezas Sáinz, Pablo, Barreiro-Iglesias, Antón, Villar López, María, Quiroga-Berdeal, María Isabel, Sánchez, Laura, Sobrido, María Jesús, Quelle Regaldie, Ana, Gandoy-Fieiras, Nerea, Villamayor, Paula R., Maceiras, Sandra, Losada, Ana, Folgueira, Mónica, Cabezas Sáinz, Pablo, Barreiro-Iglesias, Antón, Villar López, María, Quiroga-Berdeal, María Isabel, Sánchez, Laura, and Sobrido, María Jesús
- Abstract
[Abstract] Niemann Pick disease type C (NPC) is an autosomal recessive neurodegenerative lysosomal disorder characterized by an accumulation of lipids in different organs. Clinical manifestations can start at any age and include hepatosplenomegaly, intellectual impairment, and cerebellar ataxia. NPC1 is the most common causal gene, with over 460 different mutations with heterogeneous pathological consequences. We generated a zebrafish NPC1 model by CRISPR/Cas9 carrying a homozygous mutation in exon 22, which encodes the end of the cysteine-rich luminal loop of the protein. This is the first zebrafish model with a mutation in this gene region, which is frequently involved in the human disease. We observed a high lethality in npc1 mutants, with all larvae dying before reaching the adult stage. Npc1 mutant larvae were smaller than wild type (wt) and their motor function was impaired. We observed vacuolar aggregations positive to cholesterol and sphingomyelin staining in the liver, intestine, renal tubules and cerebral gray matter of mutant larvae. RNAseq comparison between npc1 mutants and controls showed 284 differentially expressed genes, including genes with functions in neurodevelopment, lipid exchange and metabolism, muscle contraction, cytoskeleton, angiogenesis, and hematopoiesis. Lipidomic analysis revealed significant reduction of cholesteryl esters and increase of sphingomyelin in the mutants. Compared to previously available zebrafish models, our model seems to recapitulate better the early onset forms of the NPC disease. Thus, this new model of NPC will allow future research in the cellular and molecular causes/consequences of the disease and on the search for new treatments.
- Published
- 2023
18. Pediatric Ventilation Skills by Non-Healthcare Students: Effectiveness, Self-Perception, and Preference
- Author
-
Martínez Isasi, Santiago, Jorge-Soto, Cristina, Baltar-Lorenzo, Clara, Castro-Fernández, Cecilia, Sobrido, María, Manteiga Urbón, José Luis, Barcala-Furelos, Roberto, Martínez Isasi, Santiago, Jorge-Soto, Cristina, Baltar-Lorenzo, Clara, Castro-Fernández, Cecilia, Sobrido, María, Manteiga Urbón, José Luis, and Barcala-Furelos, Roberto
- Abstract
[Abstract] Since a great number of infant cardiopulmonary arrests occur outside of the hospital, it is crucial to train laypersons in cardiopulmonary resuscitation techniques, especially those professionals that will work with infants and children. The main objective of this study was to evaluate the efectiveness of ventilations performed by professional training students. The secondary objective was to analyze the preference between different ventilation and chest-compression methods. The sample consisted of 32 professional training students, 15 preschool students, and 17 physical education students. The activity was conducted separately for each group, and we provided a 10 min theoretical training about infant basic life support followed by a 45 min practical training using a Laerdal Little Anne QCPR CPR manikin. A practical test in pairs was organized to record the ventilation as performed by the participants, establishing the difference between the efficacious and the non-efficacious ones. Furthermore, we handed out a survey before and after training to evaluate their knowledge. More than 90% of the students completely agreed with the importance of learning cardiopulmonary resuscitation techniques for their professional future. More than half of the sample considered that they perform the rescue breathings with the mouth-to-mouth method better. We observed that through mouth-to-mouth-nose ventilations, the number of effective ventilations was significantly higher than the effective ventilations provided by a self-inflating bag and mask (EffectiveMtoMN 6.42 ± 4.27 vs. EffectiveMask 4.75 ± 3.63 (p = 0.007)), which was the preferred method. In terms of the compression method, hands encircling the chest was preferred by more than 85% of students. Mouth-to-mouth nose ventilation is more efficient than bag-face-mask ventilation in CPR as performed by professional training and physical activity students. This fact must be considered to provide higher-quality training s
- Published
- 2023
19. Severe neurometabolic phenotype in npc1−/− zebrafish with a C-terminal mutation
- Author
-
Quelle-Regaldie, Ana, primary, Gandoy-Fieiras, Nerea, additional, Rodríguez-Villamayor, Paula, additional, Maceiras, Sandra, additional, Losada, Ana Paula, additional, Folgueira, Mónica, additional, Cabezas-Sáinz, Pablo, additional, Barreiro-Iglesias, Antón, additional, Villar-López, María, additional, Quiroga-Berdeal, María Isabel, additional, Sánchez, Laura, additional, and Sobrido, María Jesús, additional
- Published
- 2023
- Full Text
- View/download PDF
20. Targeted NGS meets expert clinical characterization: Efficient diagnosis of spastic paraplegia type 11
- Author
-
Castro-Fernández, Cristina, Arias, Manuel, Blanco-Arias, Patricia, Santomé-Collazo, Luis, Amigo, Jorge, Carracedo, Ángel, and Sobrido, Maria-Jesús
- Published
- 2015
- Full Text
- View/download PDF
21. De Novo and Dominantly Inherited <scp> SPTAN1 </scp> Mutations Cause Spastic Paraplegia and Cerebellar Ataxia
- Author
-
Van de Vondel, Liedewei, De Winter, Jonathan, Deconinck, Tine, Vural, Atay, Ertan, Sibel, Dogu, Okan, Uysal, Hilmi, Brankovic, Vesna, Herzog, Rebecca, Brice, Alexis, Dürr, Alexandra, Klebe, Stephan, Beijer, Danique, Stock, Friedrich, Bischoff, Almut Turid, Rattay, Tim W, Sobrido, María-Jesús, De Michele, Giovanna, De Jonghe, Peter, Klopstock, Thomas, Lohmann, Katja, Zanni, Ginevra, Santorelli, Filippo M, Coarelli, Giulia, Timmerman, Vincent, Haack, Tobias B, Züchner, Stephan, Consortium, PREPARE, Schüle, Rebecca, Stevanin, Giovanni, Synofzik, Matthis, Basak, A Nazli, Baets, Jonathan, Wayand, Melanie, Palvadeau, Robin, Pauly, Martje G, Klein, Katrin, Rautenberg, Maren, Guillot-Noël, Léna, and PREPARE Consortium
- Subjects
spastic paraplegia ,Cerebellar Ataxia ,genetics [Spectrin] ,Medizin ,genetics [Mutation] ,genetics [Carrier Proteins] ,Article ,genetics [Paraplegia] ,genetics [Spastic Paraplegia, Hereditary] ,Intellectual Disability ,Humans ,ddc:610 ,Paraplegia ,genetics [Cerebellar Ataxia] ,Spastic Paraplegia, Hereditary ,ataxia ,Microfilament Proteins ,rare diseases ,Spectrin ,Pedigree ,spectrin ,Phenotype ,Neurology ,Mutation ,next-generation sequencing ,Human medicine ,Neurology (clinical) ,genetics [Intellectual Disability] ,genetics [Microfilament Proteins] ,Carrier Proteins - Abstract
Background Pathogenic variants in SPTAN1 have been linked to a remarkably broad phenotypical spectrum. Clinical presentations include epileptic syndromes, intellectual disability, and hereditary motor neuropathy. Objectives We investigated the role of SPTAN1 variants in rare neurological disorders such as ataxia and spastic paraplegia. Methods We screened 10,000 NGS datasets across two international consortia and one local database, indicative of the level of international collaboration currently required to identify genes causative for rare disease. We performed in silico modeling of the identified SPTAN1 variants. Results We describe 22 patients from 14 families with five novel SPTAN1 variants. Of six patients with cerebellar ataxia, four carry a de novo SPTAN1 variant and two show a sporadic inheritance. In this group, one variant (p.Lys2083del) is recurrent in four patients. Two patients have novel de novo missense mutations (p.Arg1098Cys, p.Arg1624Cys) associated with cerebellar ataxia, in one patient accompanied by intellectual disability and epilepsy. We furthermore report a recurrent missense mutation (p.Arg19Trp) in 15 patients with spastic paraplegia from seven families with a dominant inheritance pattern in four and a de novo origin in one case. One further patient carrying a de novo missense mutation (p.Gln2205Pro) has a complex spastic ataxic phenotype. Through protein modeling we show that mutated amino acids are located at crucial interlinking positions, interconnecting the three-helix bundle of a spectrin repeat. Conclusions We show that SPTAN1 is a relevant candidate gene for ataxia and spastic paraplegia. We suggest that for the mutations identified in this study, disruption of the interlinking of spectrin helices could be a key feature of the pathomechanism. © 2022 International Parkinson and Movement Disorder Society
- Published
- 2022
- Full Text
- View/download PDF
22. A Semantic Web Approach to Integrate Phenotype Descriptions and Clinical Data
- Author
-
Taboada, María, Sobrido, María Jesús, Colombo, Verónica, Pilo, Belén, Hutchison, David, Series editor, Kanade, Takeo, Series editor, Kittler, Josef, Series editor, Kleinberg, Jon M., Series editor, Mattern, Friedemann, Series editor, Mitchell, John C., Series editor, Naor, Moni, Series editor, Nierstrasz, Oscar, Series editor, Pandu Rangan, C., Series editor, Steffen, Bernhard, Series editor, Sudan, Madhu, Series editor, Terzopoulos, Demetri, Series editor, Tygar, Doug, Series editor, Vardi, Moshe Y., Series editor, Weikum, Gerhard, Series editor, Goebel, Randy, editor, Siekmann, Jörg, editor, Wahlster, Wolfgang, editor, Riaño, David, editor, ten Teije, Annette, editor, Miksch, Silvia, editor, and Peleg, Mor, editor
- Published
- 2011
- Full Text
- View/download PDF
23. Severe neurometabolic phenotype innpc1-/-zebrafish with a C-terminal mutation
- Author
-
Quelle-Regaldie, Ana, primary, Gandoy-Fieiras, Nerea, additional, Rodríguez-Villamayor, Paula, additional, Maceiras, Sandra, additional, Losada, Ana Paula, additional, Folgueira, Mónica, additional, Cabezas-Sáinz, Pablo, additional, Barreiro-Iglesias, Antón, additional, Villar-López, María, additional, Quiroga Berdeal, María Isabel, additional, Sánchez, Laura, additional, and Sobrido, María-Jesús, additional
- Published
- 2023
- Full Text
- View/download PDF
24. The Alu-Rich Genomic Architecture of SPAST Predisposes to Diverse and Functionally Distinct Disease-Associated CNV Alleles
- Author
-
Boone, Philip M., Yuan, Bo, Campbell, Ian M., Scull, Jennifer C., Withers, Marjorie A., Baggett, Brett C., Beck, Christine R., Shaw, Christine J., Stankiewicz, Pawel, Moretti, Paolo, Goodwin, Wendy E., Hein, Nichole, Fink, John K., Seong, Moon-Woo, Seo, Soo Hyun, Park, Sung Sup, Karbassi, Izabela D., Batish, Sat Dev, Ordóñez-Ugalde, Andrés, Quintáns, Beatriz, Sobrido, María-Jesús, Stemmler, Susanne, and Lupski, James R.
- Published
- 2014
- Full Text
- View/download PDF
25. Relationship between Intracellular Na+ Concentration and Reduced Na+ Affinity in Na+,K+-ATPase Mutants Causing Neurological Disease
- Author
-
Toustrup-Jensen, Mads S., Einholm, Anja P., Schack, Vivien R., Nielsen, Hang N., Holm, Rikke, Sobrido, María-Jesús, Andersen, Jens P., Clausen, Torben, and Vilsen, Bente
- Published
- 2014
- Full Text
- View/download PDF
26. A nop56 Zebrafish Loss-of-Function Model Exhibits a Severe Neurodegenerative Phenotype
- Author
-
Quelle-Regaldie, Ana, Folgueira, Mónica, Yáñez, Julián, Sobrido-Cameán, Daniel, Alba-González, Anabel, Barreiro-Iglesias, Antón, Sobrido, María-Jesús, Sánchez, Laura, Quelle-Regaldie, Ana [0000-0003-0498-8741], Folgueira, Mónica [0000-0003-2927-7516], Yáñez, Julián [0000-0002-4559-8398], Sobrido-Cameán, Daniel [0000-0001-8239-2965], Alba-González, Anabel [0000-0003-1627-3006], Barreiro-Iglesias, Antón [0000-0002-7507-080X], Sánchez, Laura [0000-0001-7927-5303], and Apollo - University of Cambridge Repository
- Subjects
neurodegeneration ,zebrafish ,animal models ,genetic edition ,Medicine (miscellaneous) ,Neurodegeneration ,Genetic edition ,General Biochemistry, Genetics and Molecular Biology ,Zebrafish ,Animal models - Abstract
This article belongs to the Special Issue Animal Models of Neurological Disorders: Where Are We Now? [Abstract] NOP56 belongs to a C/D box small nucleolar ribonucleoprotein complex that is in charge of cleavage and modification of precursor ribosomal RNAs and assembly of the 60S ribosomal subunit. An intronic expansion in NOP56 gene causes Spinocerebellar Ataxia type 36, a typical late-onset autosomal dominant ataxia. Although vertebrate animal models were created for the intronic expansion, none was studied for the loss of function of NOP56. We studied a zebrafish loss-of-function model of the nop56 gene which shows 70% homology with the human gene. We observed a severe neurodegenerative phenotype in nop56 mutants, characterized mainly by absence of cerebellum, reduced numbers of spinal cord neurons, high levels of apoptosis in the central nervous system (CNS) and impaired movement, resulting in death before 7 days post-fertilization. Gene expression of genes related to C/D box complex, balance and CNS development was impaired in nop56 mutants. In our study, we characterized the first NOP56 loss-of-function vertebrate model, which is important to further understand the role of NOP56 in CNS function and development. This research was funded by Fondo de Investigaciones Sanitarias-Instituto de Salud Carlos III (Spain), grant number: PI17/01582. Grant PID2020-115121GB-I00 funded by MCIN/AEI/10.13039/501100011033 to Laura Sánchez and Antón Barreiro-Iglesias. Anabel Alba-González is recipient of a Predoctoral Felloeship from Xunta de Galicia (Grant number ED481A-2019/003) Xunta de Galicia; ED481A-2019/003
- Published
- 2022
- Full Text
- View/download PDF
27. Clinical and Neuropathological Features of Spastic Ataxia in a Spanish Family with Novel Compound Heterozygous Mutations in STUB1
- Author
-
Bettencourt, Conceição, de Yébenes, Justo García, López-Sendón, José Luis, Shomroni, Orr, Zhang, Xingqian, Qian, Shu-Bing, Bakker, Ingrid M. C., Heetveld, Sasja, Ros, Raquel, Quintáns, Beatriz, Sobrido, María-Jesús, Bevova, Marianna R., Jain, Shushant, Bugiani, Marianna, Heutink, Peter, and Rizzu, Patrizia
- Published
- 2015
- Full Text
- View/download PDF
28. Atrophy and hypometabolism patterns in Niemann-Pick type C: A cross-sectional and longitudinal study
- Author
-
Silva-Rodríguez, Jesús, primary, Castro, Cristina, additional, Cortés, Julia, additional, Arias, Manuel, additional, Pubul, Virginia, additional, Moscoso, Alexis, additional, Rouco, Idoia, additional, Gascón, Jordi, additional, Sobrido, María Jesús, additional, and Aguiar, Pablo, additional
- Published
- 2022
- Full Text
- View/download PDF
29. Intensificación de Ustekinumab en enfermedad de Crohn: Revisión sistemática
- Author
-
Sobrido, María, González Furelos, Tania, Rodríguez Legazpi, Iria, Sobrido, María, González Furelos, Tania, and Rodríguez Legazpi, Iria
- Abstract
[Resumen] Introducción: Ustekinumab surge como una alternativa terapéutica en enfermedad de Crohn en pacientes con fracaso a anti-TNF. Sin embargo, en muchas ocasiones, es habitual tener que reducir/acortar sus tiempos de administración para evitar el fracaso terapéutico. El objetivo de esta revisión sistemática es evaluar la efectividad de la intensificación de ustekinumab mediante el acortamiento de su intervalo terapéutico. Método: Se realizó una revisión sistemática de la literatura basada en las directrices de la declaración PRISMA. Se consultaron las bases de datos Medline, Embase y Web of Science, incluyéndose estudios con adultos diagnosticados de enfermedad de Crohn moderada o grave a los que se le hubiera realizado como intervención un cambio de posología del fármaco ustekinumab mediante acortamiento de intervalo a cada 4 semanas. Resultados: Se incluyeron 5 artículos, siendo uno de ellos una revisión sistemática. A los 6 meses se muestran tasas de remisión clínica en torno al 45%, una reducción media de 3 puntos en el índice de Harvey Bradshaw sobre el nivel basal, así como una normalización de niveles de PCR en un 21% de los pacientes. Conclusiones: Los resultados apoyan el uso del acortamiento de intervalo de ustekinumab como una opción terapéutica efectiva y útil para pacientes con pérdida de respuesta a la pauta habitual. Sin embargo, se recomienda realizar nuevos estudios de diseño experimental que aumenten el nivel de evidencia existente., [Abstract] Introduction: Ustekinumab emerges as a therapeutic alternative in Crohn’s disease in patients with anti-TNF failure. However, on many occasions, it is common to have to reduce/shorten their administration times to avoid therapeutic failure. The objective of this systematic review is to evaluate the effectiveness of ustekinumab intensification by shortening its therapeutic interval. Method: A systematic review of the literature based on the guidelines of the PRISMA statement was performed. The Medline, Embase and Web of Science databases were consulted, including studies with adults diagnosed with moderate or severe Crohn’s disease who had undergone a change in ustekinumab dosage as an intervention by shortening the interval to every 4 weeks. Results: Five articles were included, one of them being a systematic review. At 6 months, clinical remission rates of around 45% are shown, an average reduction of 3 points in the Harvey Bradshaw index over baseline, as well as a normalization of CRP levels in 21% of patients. Conclusions: The results support the use of ustekinumab interval shortening as an effective and useful therapeutic option for patients with loss of response to the usual regimen. However, it is recommended to carry out new studies of experimental design that increase the level of existing evidence.
- Published
- 2022
30. A nop56 Zebrafish Loss-of-Function Model Exhibits a Severe Neurodegenerative Phenotype
- Author
-
Quelle Regaldie, Ana, Folgueira, Mónica, Yáñez, Julián, Sobrido Cameán, Daniel, Alba-González, Anabel, Barreiro-Iglesias, Antón, Sobrido, María-Jesús, Sánchez Piñón, Laura, Quelle Regaldie, Ana, Folgueira, Mónica, Yáñez, Julián, Sobrido Cameán, Daniel, Alba-González, Anabel, Barreiro-Iglesias, Antón, Sobrido, María-Jesús, and Sánchez Piñón, Laura
- Abstract
[Abstract] NOP56 belongs to a C/D box small nucleolar ribonucleoprotein complex that is in charge of cleavage and modification of precursor ribosomal RNAs and assembly of the 60S ribosomal subunit. An intronic expansion in NOP56 gene causes Spinocerebellar Ataxia type 36, a typical late-onset autosomal dominant ataxia. Although vertebrate animal models were created for the intronic expansion, none was studied for the loss of function of NOP56. We studied a zebrafish loss-of-function model of the nop56 gene which shows 70% homology with the human gene. We observed a severe neurodegenerative phenotype in nop56 mutants, characterized mainly by absence of cerebellum, reduced numbers of spinal cord neurons, high levels of apoptosis in the central nervous system (CNS) and impaired movement, resulting in death before 7 days post-fertilization. Gene expression of genes related to C/D box complex, balance and CNS development was impaired in nop56 mutants. In our study, we characterized the first NOP56 loss-of-function vertebrate model, which is important to further understand the role of NOP56 in CNS function and development.
- Published
- 2022
31. Percepciones de personas con discapacidad motora adquirida en miembro superior sobre su vuelta al trabajo: proyecto de investigación
- Author
-
Sobrido, María, Universidade da Coruña. Facultade de Ciencias da Saúde, Gómez Campo, Marta, Sobrido, María, Universidade da Coruña. Facultade de Ciencias da Saúde, and Gómez Campo, Marta
- Abstract
[Resumen] Introducción: Todas las personas con discapacidad tienen derecho a participar en un empleo decente y productivo, aunque algunos estudios internacionales indican que el tipo y la intensidad de la discapacidad puede llegar a influir en su participación laboral, especialmente si se trata de lesiones neuromusculoesqueléticas de miembro superior. En Galicia, se desconoce cómo se encuentra esta situación, por lo que se considera necesario indagar en cómo las personas con discapacidad motora adquirida en miembro superior afrontan su reincorporación laboral desde la perspectiva de Terapia Ocupacional. Objetivo: Explorar las percepciones e impresiones de personas que han adquirido una discapacidad motora en miembro superior sobre su vuelta al trabajo. Metodología: El estudio seguirá una metodología cualitativa de tipo fenomenológico. Se desarrollará en la comunidad autónoma de Galicia, y la recogida de datos se llevará a cabo mediante una entrevista semiestructurada, siendo los perfiles informantes trabajadoras/es con una discapacidad motora adquirida de miembro superior., [Resumo] Introdución: Todas as persoas con discapacidade teñen dereito a participar nun emprego digno e produtivo, aínda que algúns estudos internacionais indican que o tipo e a intensidade da discapacidade pode influír na súa participación laboral, sobre todo se se trata de lesións neuromusculoesqueléticas de membro superior. En Galicia, descoñécese como se atopa esta situación, polo que se considera necesario investigar como as persoas con discapacidade motora adquirida en membro superior afrontan a súa reincorporación laboral desde a perspectiva de Terapia Ocupacional. Obxectivo: Explorar as percepcións e impresións de persoas que adquiriron unha discapacidade motora no membro superior sobre a súa volta ao traballo. Metodoloxía: O estudo seguirá unha metodoloxía cualitativa de tipo fenomenolóxico. Desenvolverase na comunidade autónoma de Galicia, e a recollida de datos realizarase a través dunha entrevista semiestruturada, sendo os perfís informantes traballadoras/es con discapacidade motora adquirida de membro superior., [Abstract] Introduction: Every individual with disability has the right to participate in meaningful and productive work. However, some international studies indicate that the type and nature of the disability can influence one’s participation in work, especially if it involves upper limb neuromusculoskeletal injuries. In Galicia, it is unknown how common this situation is, henceforth it is considered necessary to investigate how individuals with acquired upper limb motor disability are able to return to work from an Occupational Therapy perspective. Objective: To explore the perceptions and feelings of individuals who have acquired an upper limb motor disability about their experience of returning to work. Methodology: The study will follow a qualitative methodology of the phenomenological type. It will be developed in the region of Galicia, and the data collection will be carried out by way of a semi-structured interview. The informant profiles will be workers with acquired motor disabilities of the upper limb.
- Published
- 2022
32. The Human Variome Project
- Author
-
Cotton, Richard G. H., Auerbach, Arleen D., Axton, Myles, Barash, Carol Isaacson, Berkovic, Samuel F., Brookes, Anthony J., Burn, John, Cutting, Garry, Dunnen, Johan T. den, Flicek, Paul, Freimer, Nelson, Greenblatt, Marc S., Howard, Heather J., Katz, Michael, Macrae, Finlay A., Maglott, Donna, Möslein, Gabriela, Povey, Sue, Ramesar, Rajkumar S., Richards, Carolyn S., Seminara, Daniela, Smith, Timothy D., Sobrido, María-Jesús, Solbakk, Jan Helge, Tanzi, Rudolph E., Tavtigian, Sean V., Taylor, Graham R., Utsunomiya, Joji, and Watson, Michael
- Published
- 2008
- Full Text
- View/download PDF
33. A novel MYH7 mutation links congenital fiber type disproportion and myosin storage myopathy
- Author
-
Ortolano, Saida, Tarrío, Rosa, Blanco-Arias, Patricia, Teijeira, Susana, Rodríguez-Trelles, Francisco, García-Murias, María, Delague, Valerie, Lévy, Nicolas, Fernández, José M., Quintáns, Beatriz, Millán, Beatriz San, Carracedo, Ángel, Navarro, Carmen, and Sobrido, María-Jesús
- Published
- 2011
- Full Text
- View/download PDF
34. PET and MRI detection of early and progressive neurodegeneration in spinocerebellar ataxia type 36
- Author
-
Aguiar, Pablo, Pardo, Julio, Arias, Manuel, Quintáns, Beatriz, Fernández‐Prieto, Montse, Martínez‐Regueiro, Rocío, Pumar, José‐Manuel, Silva‐Rodríguez, Jesús, Ruibal, Álvaro, Sobrido, María‐Jesús, and Cortés, Julia
- Published
- 2017
- Full Text
- View/download PDF
35. Are Functional Assays for Pathogenicity Assessment of Genetic Variants Overrated?
- Author
-
Sobrido, María‐Jesús
- Published
- 2017
- Full Text
- View/download PDF
36. Severe neurometabolic phenotype in npc1-/- zebrafish with a C-terminal mutation.
- Author
-
Quelle-Regaldie, Ana, Gandoy-Fieiras, Nerea, Rodríguez-Villamayor, Paula, Maceiras, Sandra, Losada, Ana Paula, Folgueira, Mónica, Cabezas-Sáinz, Pablo, Barreiro-Iglesias, Antón, Villar-López, María, Isabel Quiroga-Berdeal, María, Sánchez, Laura, and Sobrido, María Jesús
- Subjects
BRACHYDANIO ,KIDNEY tubules ,PHENOTYPES ,GLYCOGEN storage disease type II ,CEREBELLAR ataxia ,LIPID metabolism ,CEREBELLUM degeneration - Abstract
Niemann Pick disease type C (NPC) is an autosomal recessive neurodegenerative lysosomal disorder characterized by an accumulation of lipids in different organs. Clinical manifestations can start at any age and include hepatosplenomegaly, intellectual impairment, and cerebellar ataxia. NPC1 is the most common causal gene, with over 460 different mutations with heterogeneous pathological consequences. We generated a zebrafish NPC1 model by CRISPR/Cas9 carrying a homozygous mutation in exon 22, which encodes the end of the cysteine-rich luminal loop of the protein. This is the first zebrafish model with a mutation in this gene region, which is frequently involved in the human disease. We observed a high lethality in npc1 mutants, with all larvae dying before reaching the adult stage. Npc1 mutant larvae were smaller than wild type (wt) and their motor function was impaired. We observed vacuolar aggregations positive to cholesterol and sphingomyelin staining in the liver, intestine, renal tubules and cerebral gray matter of mutant larvae. RNAseq comparison between npc1 mutants and controls showed 284 differentially expressed genes, including genes with functions in neurodevelopment, lipid exchange and metabolism, muscle contraction, cytoskeleton, angiogenesis, and hematopoiesis. Lipidomic analysis revealed significant reduction of cholesteryl esters and increase of sphingomyelin in the mutants. Compared to previously available zebrafish models, our model seems to recapitulate better the early onset forms of the NPC disease. Thus, this new model of NPC will allow future research in the cellular and molecular causes/consequences of the disease and on the search for new treatments. [ABSTRACT FROM AUTHOR]
- Published
- 2023
- Full Text
- View/download PDF
37. Summarizing Phenotype Evolution Patterns from Report Cases
- Author
-
Taboada, María, Álvarez, Verónica, Martínez, Diego, Pilo, Belén, Robinson, Peter N., and Sobrido, María J.
- Published
- 2012
- Full Text
- View/download PDF
38. No Evidence of Association Between Common European Mitochondrial DNA Variants in Alzheimer, Parkinson, and Migraine in the Spanish Population
- Author
-
Fachal, Laura, Mosquera-Miguel, Ana, Pastor, Pau, Ortega-Cubero, Sara, Lorenzo, Elena, Oterino-Durán, Agustín, Toriello, María, Quintáns, Beatriz, Camiña-Tato, Montse, Sesar, Angel, Vega, Ana, Sobrido, María-Jesús, and Salas, Antonio
- Published
- 2015
- Full Text
- View/download PDF
39. Cholesterol and Cognition: A Question of Balance?
- Author
-
Sobrido, María-Jesús
- Published
- 2014
- Full Text
- View/download PDF
40. New Clues to the Relationship Between Endoplasmic Reticulum, Lipid Metabolism and Axonopathies
- Author
-
Sobrido, María-Jesús
- Published
- 2014
- Full Text
- View/download PDF
41. Hexanucleotide Repeat Expansions in c9FTD/ALS and SCA36 Confer Selective Patterns of Neurodegeneration In Vivo
- Author
-
Todd, Tiffany W., McEachin, Zachary T., Chew, Jeannie, Burch, Alexander R., Jansen-West, Karen, Tong, Jimei, Yue, Mei, Song, Yuping, Castanedes-Casey, Monica, Kurti, Aishe, Dunmore, Judith H., Fryer, John D., Zhang, Yong-Jie, San Millan, Beatriz, Teijeira Bautista, Susana, Arias, Manuel, Dickson, Dennis, Gendron, Tania F., Sobrido, María-Jesús, Disney, Matthew D., Bassell, Gary J., Rossoll, Wilfried, and Petrucelli, Leonard
- Published
- 2020
- Full Text
- View/download PDF
42. Corticospinal tract and motor cortex degeneration in pure hereditary spastic paraparesis type 4 (SPG4)
- Author
-
Navas-Sánchez, Francisco J., primary, Martín De Blas, Daniel, additional, Fernández-Pena, Alberto, additional, Alemán-Gómez, Yasser, additional, Lage-Castellanos, Agustín, additional, Marcos-Vidal, Luis, additional, Guzmán-De-Villoria, Juan A., additional, Catalina, Irene, additional, Lillo, Laura, additional, Muñoz-Blanco, José L., additional, -Ugalde, Andrés Ordoñez, additional, Quintáns, Beatriz, additional, Sobrido, María-Jesús, additional, Carmona, Susanna, additional, Grandas, Francisco, additional, and Desco, Manuel, additional
- Published
- 2021
- Full Text
- View/download PDF
43. Impaired proteasome activity and neurodegeneration with brain iron accumulation in FBXO7 defect
- Author
-
Correa-Vela, Marta, Lupo, Vincenzo, Montpeyó Garcia-Moreno, Marta, Sancho, Paula, Marcé-Grau, Anna, Hernández-Vara, Jorge, Darling, Alejandra, Jenkins, Alison, Fernández-Rodríguez, Sandra, Tello, Cristina, Ramírez-Jiménez, Laura, Pérez, Belén, Sánchez-Montáñez, Ángel, Macaya Ruiz, Alfons, Sobrido, María J., Martinez-Vicente, Marta, Pérez-Dueñas, Belén, Espinós, Carmen, Universitat Autònoma de Barcelona, Fundació La Marató de TV3, Instituto de Salud Carlos III, Generalitat Valenciana, Fundació per Amor a L'Art, and Ministerio de Educación, Cultura y Deporte (España)
- Subjects
0301 basic medicine ,Adult ,medicine.medical_specialty ,Levodopa ,Proteasome Endopeptidase Complex ,Neurodegeneration with brain iron accumulation ,Neuroaxonal Dystrophies ,Neurosciences. Biological psychiatry. Neuropsychiatry ,medicine.disease_cause ,Brief Communication ,03 medical and health sciences ,Epilepsy ,Consanguinity ,Young Adult ,0302 clinical medicine ,Parkinsonian Disorders ,Internal medicine ,Mitophagy ,medicine ,Cerebellar Degeneration ,Humans ,RC346-429 ,health care economics and organizations ,Spinocerebellar Degenerations ,Paraplegia ,Mutation ,business.industry ,General Neuroscience ,Parkinsonism ,F-Box Proteins ,Syndrome ,medicine.disease ,Phenotype ,Iron Metabolism Disorders ,nervous system diseases ,030104 developmental biology ,Endocrinology ,Female ,Neurology (clinical) ,Neurology. Diseases of the nervous system ,business ,030217 neurology & neurosurgery ,medicine.drug ,RC321-571 - Abstract
FBXO7 is implicated in the ubiquitin–proteasome system and parkin-mediated mitophagy. FBXO7defects cause a levodopa-responsive parkinsonian-pyramidal syndrome(PPS). Methods: We investigated the disease molecular bases in a child with PPS and brain iron accumulation. Results: A novel homozygous c.368C>G (p.S123*) FBXO7 mutation was identified in a child with spastic paraplegia, epilepsy, cerebellar degeneration, levodopa nonresponsive parkinsonism, and brain iron deposition. Patient’s fibroblasts assays demonstrated an absence of FBXO7 RNA expression leading to impaired proteasome degradation and accumulation of poly-ubiquitinated proteins. Conclusion: This novel FBXO7 phenotype associated with impaired proteasome activity overlaps with neurodegeneration with brain iron accumulation disorders., Fundacio La Marato de TV3 [Grants 20143130 to BPD, and 20143131 to CE], by the Instituto de Salud Carlos III (ISCIII) - Subdireccion General de Evaluacion y Fomento de la Investigacion within the framework of the National R + D+I Plan cofunded with ERDF funds [Grants PI18/01319 to BPD and PI18/00147 to CE], and by the Generalitat Valenciana [Grant PROMETEO/2018/ 135 to CE]. Part of the equipment employed in this work has been funded by Generalitat Valenciana and cofinanced with ERDF funds (OP ERDF of Comunitat Valenciana 2014-2020). SFR had a contract funded by the Spanish Foundation Per Amor a l’Art (FPAA). PS had a FPU-PhD fellowship funded by the Spanish Ministry of Education, Culture and Sport Inmunoterapia
- Published
- 2020
44. Efectividad en intervenciones destinadas al empleo en personas con esquizofrenia desde Terapia Ocupacional. Revisión sistemática
- Author
-
Sobrido, María, Sánchez-Balsa, Alejandro, Sobrido, María, and Sánchez-Balsa, Alejandro
- Abstract
[Resumen] Objetivos: conocer la efectividad de diferentes intervenciones en el área ocupacional “trabajo”. Métodos: se elaboró una Revisión Sistemática. Para ello, se realizó una búsqueda bibliográfica en tres bases de datos del ámbito sanitario y social: Pubmed, Scopus y Web of Science. Criterios de selección: Personas entre 18-65 años con diagnóstico de esquizofrenia, artículos publicados en los últimos 10 años en inglés, castellano y portugués, excluyendo los artículos de opinión y los artículos con menos de 10 participantes en la intervención. Resultados: se obtuvieron 12 documentos, (6 revisiones sistemáticas y 6 artículos originales). La intervención más efectiva ha sido la ISE en la obtención (63%) y mantenimiento medio del empleo (29,59 semanas). Conclusiones: la duración en el tiempo de mantenimiento del empleo no es significativamente importante para llevar un adecuado nivel de vida en sociedad. Por último, las intervenciones que se han incluido se llevan a cabo en servicios de salud mental relacionados con los servicios sanitarios, [Abstract] Objective: To know effectiveness of different interventions in occupational area "work". Methods: A Systematic Review was performed. To do this, a bibliographic search was conducted in three databases in health and social field: Pubmed, Scopus and Web of Science. Selection criteria: People between 18-65 years old with a diagnosis of schizophrenia, articles published in the last 10 years in English, Spanish and Portuguese, excluding opinion articles and articles with less than 10 participants in intervention. Results: Twelve documents were obtained (6 systematic reviews and 6 original articles). The most effective intervention has been the ESI in obtaining (63%) and maintaining average employment (29.59 weeks). Conclusions: The duration in time of maintenance of employment is not significantly important to lead an adequate standard of living in society. Finally, the interventions that have been included are done in mental health services related to health services.
- Published
- 2021
45. Efectividad en intervenciones destinadas al empleo en personas con esquizofrenia desde Terapia Ocupacional. Revisión sistemática
- Author
-
Sánchez Balsa, Alejandro, Sobrido, María, Sánchez Balsa, Alejandro, and Sobrido, María
- Abstract
Objective: To know effectiveness of different interventions in occupational area "work". Methods: A Systematic Review was performed. To do this, a bibliographic search was conducted in three databases in health and social field: Pubmed, Scopus and Web of Science. Selection criteria: People between 18-65 years old with a diagnosis of schizophrenia, articles published in the last 10 years in English, Spanish and Portuguese, excluding opinion articles and articles with less than 10 participants in intervention. Results: Twelve documents were obtained (6 systematic reviews and 6 original articles). The most effective intervention has been the ESI in obtaining (63%) and maintaining average employment (29.59 weeks). Conclusions: The duration in time of maintenance of employment is not significantly important to lead an adequate standard of living in society. Finally, the interventions that have been included are done in mental health services related to health services., Objetivos: conocer la efectividad de diferentes intervenciones en el área ocupacional “trabajo”. Métodos: se elaboró una Revisión Sistemática. Para ello, se realizó una búsqueda bibliográfica en tres bases de datos del ámbito sanitario y social: Pubmed, Scopus y Web of Science. Criterios de selección: Personas entre 18-65 años con diagnóstico de esquizofrenia, artículos publicados en los últimos 10 años en inglés, castellano y portugués, excluyendo los artículos de opinión y los artículos con menos de 10 participantes en la intervención. Resultados: se obtuvieron 12 documentos, (6 revisiones sistemáticas y 6 artículos originales). La intervención más efectiva ha sido la ISE en la obtención (63%) y mantenimiento medio del empleo (29,59 semanas). Conclusiones: la duración en el tiempo de mantenimiento del empleo no es significativamente importante para llevar un adecuado nivel de vida en sociedad. Por último, las intervenciones que se han incluido se llevan a cabo en servicios de salud mental relacionados con los servicios sanitarios.
- Published
- 2021
46. Un estudio descriptivo de la presencia, visibilidad y calidad de las revistas de terapia ocupacional
- Author
-
Sobrido, María, Talavera Valverde, Miguel Ángel, Souto Gómez, Ana Isabel, Sobrido, María, Talavera Valverde, Miguel Ángel, and Souto Gómez, Ana Isabel
- Abstract
[Resumen] Con el presente artículo intentamos conocer las revistas actuales de terapia ocupacional, así como la visibilidad y calidad de las mismas. La selección de la muestra se realizó a partir de la base de datos ULRICH y los catálogos Latindex y C17. La búsqueda se completó con un rastreo en la red. Los criterios de inclusión fueron revistas científicas revisadas por pares y activas en el momento de la consulta. Del listado final se analizaron las siguientes variables: visibilidad (se tuvo en cuenta el idioma de publicación y presencia en bases de datos internacionales -ERIC, Psychinfo, Medline, Scopus, OTDBASE, CINAHL and Web of Science), accesibilidad (suscripción, gratuidad y Open Access,) e indicadores de calidad (editorial responsable y factor de impacto). 43 revistas cumplieron los criterios. Respecto a la visiblidad el 69,8% estaban indexadas en al menos una base de datos, siendo la de mayor representatividad, la base de datos propia de la disciplina, seguidas de las de ciencias de la salud, multidisciplinares y en menor medida las de ciencias sociales. El 25,6% están incorporadas al movimiento Open Access y el 18,6% son Free Access. Respecto al prestigio, un 20,9% incorporadas a JCR y un 41,9% a SJR. Tras analizar cinco criterios de calidad, únicamente Hong Kong Journal of Occupational Therapy, Irish Journal of Occupational Therapy y Occupational Therapy International los cumplen. Este estudio muestra la realidad de las revistas específicas de la especialidad, así como sus fortalezas y debilidades. Es esperado que conocer esta realidad permitirá mejorar las tasas de producción de conocimiento en terapia ocupacional., [Resumo] Com este artigo buscamos conhecer as revistas atuais de terapia ocupacional, bem como sua visibilidade e qualidade. A seleção da amostra foi feita a partir da base de dados ULRICH e dos catálogos Latindex e C17. A pesquisa foi concluída com um rastreamento na web. Os critérios de inclusão foram periódicos científicos revisados por pares e ativos no momento da consulta. Da lista final, foram analisadas as seguintes variáveis: visibilidade (foram considerados o idioma de publicação e a presença em bases de dados internacionais -ERIC, Psychinfo, Medline, Scopus, OTDBASE, CINAHL e Web of Science), acessibilidade (assinatura, acesso gratuito e aberto) e indicadores de qualidade (editora responsável e fator de impacto). Quarenta e três periódicos atenderam aos critérios. Quanto à visibilidade, 69,8% estiveram indexados em pelo menos uma base de dados, sendo a mais representativa a própria base de dados da disciplina, seguida das ciências multidisciplinares da saúde e, em menor escala, das da Ciências Sociais. 25,6% estão incorporados ao movimento de Acesso Aberto e 18,6% são de Acesso Livre. Em relação ao prestígio, 20,9% incorporaram-se ao JCR e 41,9%% ao SJR. Após analisar cinco critérios de qualidade, só Hong Kong Journal of Occupational Therapy, Irish Journal of Occupational Therapy e a Occupational Therapy International os atendem. Este estudo mostra a realidade dos periódicos específicos da área, bem como seus pontos fortes e fracos. Acredita-se que conhecer essa realidade pode melhorar os índices de produção de conhecimento em terapia ocupacional., [Abstract] With this article, we try to know the current occupational therapy journals, as well as their visibility and quality. The sample selection was made from the ULRICH database and Latindex and C17 catalog. The search was completed with a web search. The inclusion criteria were active and peer-reviewed scientific journals. The variables analyzed were: Visibility (publication language, presence in databases -ERIC, Psychinfo, Medline, Scopus, OTDBASE, CINAHL, and Web of Science), accessibility (subscription, free or Open Access), and quality indicators (Journal Citation Reports and Scimago Journal Ranking). 43 journals met the criteria. Visibility 69,8% were indexed in at least one database, being the most representative, the discipline's database, followed by the health sciences, multidisciplinary and to a lesser extent those of the social sciences. 25,6% are incorporated into the Open Access movement, and 18,6% are Free Access. Prestige, 20,9% are incorporated in JCR and 41,9% in SJR. After analyzing five quality criteria, only the Hong Kong Journal of Occupational Therapy, Irish Journal of Occupational Therapy, and Occupational Therapy International meet them. This study shows the reality of the specific journals of the specialty, as well as their strengths and weaknesses. We hope that knowing this reality we will improve the rates of knowledge production in occupational therapy.
- Published
- 2021
47. Analysis of Arterial Blood Gas Values Based on Storage Time Since Sampling: An Observational Study
- Author
-
Montero Salinas, Alejandro, Pérez-Ramos, Marta, Toba-Alonso, Fernando, Quintana Del Río, Leticia, Suanzes-Hernández, Jorge, Sobrido, María, Martínez-Isasi, Santiago, Montero Salinas, Alejandro, Pérez-Ramos, Marta, Toba-Alonso, Fernando, Quintana Del Río, Leticia, Suanzes-Hernández, Jorge, Sobrido, María, and Martínez-Isasi, Santiago
- Abstract
[Abstract] Aim: To evaluate the influence of time on arterial blood gas values after artery puncture is performed. Method: Prospective longitudinal observational study carried out with gasometric samples from 86 patients, taken at different time intervals (0 (T0), 15 (T15), 30 (T30) and 60 (T60) min), from 21 October 2019 to 21 October 2020. The study variables were: partial pressure of carbon dioxide, bicarbonate, hematocrit, hemoglobin, potassium, lactic acid, pH, partial pressure of oxygen, saturation of oxygen, sodium and glucose. Results: The initial sample consisted of a total of 90 patients. Out of all the participants, four were discarded as they did not understand the purpose of the study; therefore, the total number of participants was 86, 51% of whom were men aged 72.59 on average (SD: 16.23). In the intra-group analysis, differences in PCO2, HCO3, hematocrit, Hb, K+ and and lactic acid were observed between the initial time of the test and the 15, 30 and 60 min intervals. In addition, changes in pH, pO2, SO2, Na and glucose were noted 30 min after the initial sample had been taken. Conclusions: The variation in the values, despite being significant, has no clinical relevance. Consequently, the recommendation continues to be the analysis of the GSA at the earliest point to ensure the highest reliability of the data and to provide the patient with the most appropriate treatment based on those results.
- Published
- 2021
48. Zebrafish Models of Autosomal Recessive Ataxias
- Author
-
Quelle-Regaldie, Ana, primary, Sobrido-Cameán, Daniel, additional, Barreiro-Iglesias, Antón, additional, Sobrido, María Jesús, additional, and Sánchez, Laura, additional
- Published
- 2021
- Full Text
- View/download PDF
49. mtDNA mutations in tumors of the central nervous system reflect the neutral evolution of mtDNA in populations
- Author
-
Vega, Ana, Salas, Antonio, Gamborino, Elena, Sobrido, María Jesús, Macaulay, Vincent, and Carracedo, Ángel
- Published
- 2004
- Full Text
- View/download PDF
50. A Semantic Web Approach to Integrate Phenotype Descriptions and Clinical Data
- Author
-
Taboada, María, primary, Sobrido, María Jesús, additional, Colombo, Verónica, additional, and Pilo, Belén, additional
- Published
- 2011
- Full Text
- View/download PDF
Catalog
Discovery Service for Jio Institute Digital Library
For full access to our library's resources, please sign in.