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Objective: This scoping review aims to comprehend the nature and the extent of the available evidence regarding tools to assess patients with Fabry Disease (FD). Introduction: Due to its heterogeneous presentation and rare frequency in the population, FD is significantly misdiagnosed. In this context, understanding the current knowledge of tools to assess FD patients is crucial to ensure appropriate screening, early diagnosis, accurate classification, and timely treatment. A preliminary search of PubMed and the Cochrane Database of Systematic Reviews was conducted, and no published or underway systematic reviews or scoping reviews on our research question were identified. Inclusion criteria: We will include human-based research articles based on qualitative or quantitative methods, published in peer-reviewed journals that examine any assessment tool for FD, particularly, those that contribute to the diagnosis, screening, classification, stratification, and evaluation. Only articles with full text available, published between 2017 and 2022, and written in English and Spanish will be included. Methods: Search will be developed by a librarian and conducted on the following databases: Cochrane Database of Systematic Reviews, Epistemonikos, Biblioteca Virtual en Salud, Otseeker, PEDro, Pubmed, IngentaConnect, Directory of Open Access Journals, SpringerLink, Wiley, SAGE, and Scielo. Selection of studies will be independently conducted by calibrated reviewers through the title, abstract, and full-text screening, followed by data charting and drafting of tables, figures, and diagrams.

Teduglutide (Revestive®, 10 mg mL−1) is a recombinant human glucagon-like peptide 2 analogue, used in the treatment of short bowel syndrome, a serious and highly disabling condition which results from either too small a length of intestine or loss of critical intestinal function. The determination of therapeutic compounds of protein-nature is always challenging due to their complex structure. In this work, we present a fast, straightforward reversed phase (RP)UHPLC-UV-(HESI/ORBITRAP)MS method for the identification and quantification of the intact teduglutide peptide. The method has been developed and validated in accordance with the International Council for Harmonization of Technical Requirements for Pharmaceuticals for Human Use (ICH) guidelines; therefore, linearity, limits of detection and quantification, accuracy (precision and trueness), robustness, system suitability and specificity using the signal from the UV and MS, have been evaluated. The validation performance parameters obtained from the UV and MS signals were compared throughout the work, to select the most suitable. To study the specificity of the method and the impact of medicine mishandling under hospital conditions, force degradation studies were performed, i.e. thermal (40 °C and 60 °C), shaking (mechanical) and light (accelerated exposition) effects. Identification by the exact mass of teduglutide was achieved and it was confirmed that the peptide does not undergo any post-translational modifications (PTMs). To the best of our knowledge, the present work reports the first method developed for the simultaneous identification, structural characterization, and quantification of the therapeutic teduglutide peptide. Finally, the proposed method is able to indicate stability when quantifying the intact teduglutide since detects and characterises the exact mass of the degradation/modification products., Fundacion Andaluza de Farmacia Hospitalaria (Spain) TEC01 FQM 118, Junta de Andalucia DOC_01694, Hospital Paediatrics Pharmacy Unit of the Hospital Vall d' Hebron (Barcelona, Spain)

Bovine paratuberculosis (PTB) is an infectious disease that affects ruminants worldwide and is a burden on the dairy industry. PTB control measures include culling of Mycobacterium avium subsp. paratuberculosis (MAP)-infected animals from the herd and the enhancement of farm-biosecurity measures. Diagnostics tools for the direct detection of MAP are fecal real-time qPCR and bacteriological culture, the last one being considered the gold standard. However, both show limitations for detecting subclinical MAP-infected cattle with low bacterial load in feces and gut tissues. Droplet digital polymerase chain reaction (ddPCR) is a third-generation PCR method that shows high reproducibility for the quantification of low DNA copy numbers. The objective of this study was to design a ddPCR assay to detect and quantify a fragment of the F57 MAP-specific sequence in samples of naturally MAP-infected Holstein cattle. DNA was isolated from whole-blood and fecal samples from control cows with a negative ELISA and qPCR result (N = 75) and from cows with PTB-associated focal (N = 32), multifocal (N = 21), and diffuse lesions (N = 17) in gut tissues. After ddPCR, the DNA extracted from fecal samples of cows with diffuse lesions showed higher mean copies per microliter (13,791.2 copies/μl) than samples from cows with multifocal lesions (78.8 copies/μl), focal lesions (177.1 copies/μl) or control cows (4.8 copies/μl) (P ≤ 0.05). Significant differences in mean DNA copies/μl were also observed in the blood samples from cows with focal lesions (47.7 copies/μl) when compared with cows with multifocal and diffuse lesions; 18.1 and 12.4 copies/μl, respectively. Using a principal component analysis, the results of the fecal ddPCR clustered together with the results of a commercial ELISA for the specific detection of MAP antibodies, fecal and tissue qPCR, and bacteriological culture results. In contrast, blood ddPCR results clustered together with the results of an ELISA for the detection of a biomarker of subclinical PTB, the ABCA13 transporter. Blood ddPCR was the most sensitive tool (sensitivity 71%, specificity 100%) of all the quantitative methods used in the study for the detection of subclinical cows with focal lesions.

14 páginas, 4 tablas, 3 figuras., Bovine paratuberculosis (PTB) is a chronic enteritis caused by Mycobacterium avium subspecies paratuberculosis (Map) that causes a heavy economic impact worldwide. Map infected animals can remain asymptomatic for years while transmitting the mycobacteria to other members of the herd. Therefore, accurate detection of subclinically infected animals is crucial for disease control. In a previous RNA-Seq study, we identified several mRNAs that were overexpressed in whole blood of cows with different PTB-associated histological lesions compared with control animals without detected lesions. The proteins encoded by two of these mRNAs, ATP binding cassette subfamily A member 13 (ABCA13) and Matrix Metallopeptidase 8 (MMP8) were significantly overexpressed in whole blood of animals with focal histological lesions, the most frequent pathological form in the subclinical stages of the disease. In the current study, the potential of sensitive early diagnostic tools of commercial ELISAs, based on the detection of these two biomarkers, was evaluated in serum samples of 704 Holstein Friesian cows (566 infected animals and 138 control animals from PTB-free farms). For this evaluation, infected animals were classified into three groups, according to the type of histological lesions present in their gut tissues: focal (n = 447), multifocal (n = 59), and diffuse (n = 60). The ELISA based on the detection of ABCA13 was successfully validated showing good discriminatory power between animals with focal lesions and control animals (sensitivity 82.99% and specificity 80.43%). Conversely, the MMP8-based ELISA showed a poor discriminatory power between the different histological groups and non-infected controls. The ABCA13-based ELISA showed a higher diagnostic value (0.822) than the IDEXX ELISA (0.517), the fecal bacterial isolation (0.523) and the real-time PCR (0.531) for the detection of animals with focal lesions. Overall, our results indicate that this ABCA13 ELISA greatly improves the identification of subclinically infected animals with focal lesions that are undetectable using current diagnostic methods., This study was part of the I+D+i project (RTI2018- 094192-R-C22) and was funded by the Spanish MCIN/AEI/10.13039/501100011033/ Ministry of Science, Innovation and the European Regional Development Funds (FEDER Una manera de hacer Europa) and by the Gobierno del Principado de Asturias, Regional funds PCTI 2021– 2023 (GRUPIN: IDI2021-000102) co-funded by FEDER. We acknowledge the National Institute for Agricultural Research (INIA) for the scholarships of CB-V (Ayuda CPD2016-0142 financiada por MCIN/AEI/ 10.13039/501100011033 y FSE El FSE invierte en tu future) and MC.

Nivolumab (Opdivo®) is a fully human immunoglobulin G4 isotype approved for the treatment of many cancers. It acts as an immune checkpoint inhibitor by blocking the interaction between PD-1 (Programmed Cell Death Protein 1) – an inhibitory receptor expressed on activated T cells- and its ligands, PD-L1 and PD-L2. The quantification of therapeutic proteins in their medicines and pharmaceutical preparations remains challenging because the protein content, a critical quality attribute, must be rigorously calculated using a validated stabilityindicating method, such as that indicated by the International Conference on Harmonization (ICH) quality guidelines, and this requires the analysis of the drug in the presence of its degraded products. In this work, we present an strategy based on the combined use of the UV and MS data to full file the requirement of the ICH-Q2 (R1) to develop and validated as stability indicated a (RP)UHPLC/UV-(HESI/Orbitrap™)MS method for the quantification of nivolumab in medicinal products. A comparative study of all figures of merit of the method using UV or MS data are shown and discussed. The results show that linearity was similar for the two detectors and was established over a range of 4–45 μg/mL and 1–45 μg/mL for the UV and (HESI/Orbitrap™)MS signals, respectively. The sensitivity of the method was higher when using the (HESI/Orbitrap™)MS signal (0.2 μg/mL) than with the UV(2.0 μg/mL). However, the UV signal provided better accuracy and precision than the (HESI/ Orbitrap™)MS signal, which did not meet the criteria for method robustness and system suitability. In spite of this, the MS signal plays a crucial role in this methodology by obtaining the molecular weight profile of the nivolumab isoforms, so enabling us to propose the glycans profile and detect structural modification due to degradation. The specificity of the method was evaluated by conducting forced degradation tests on samples of nivolumab in medicine form. The aim was to find out whether nivolumab suffers structural modifications when subject to stress. Structural modifications were detected by analysing the MS isoform profile, as changes of this kind promote new isoforms that are not chromatographically separated or detected by the UV signal. In this way, we demonstrated that the (RP)UHPLC/UV-(HESI/Orbitrap™)MS method was capable of detecting nivolumab degradation, and was suitable for use in nivolumab stability studies. Thus, the protein content in the daily surplus of the Opdivo® medicine, stored either at room temperature (20 ◦C) or refrigerated at 4 ◦C, could be tracked for 15 days., FPU18/03131 Ministry of Universities, Spain, (P20_01029) Junta de Andalucía (Spain) and European Regional Development Funds, postdoctoral position from the Junta de Andalucía, Spain, Project P20-01029 (I + D + i - Junta de Andalucía, Spain) Project B-FQM-308-UGR20 (Universidad de Granada, Proyectos I + D + i del Programa Operativo FEDER Andalucía 2020), CBUA/ Universidad de Granada

[Resumo] Obxectivo: Explorar e analizar o coidado como ocupación desempeñada por persoas maiores coidadoras dende a perspectiva de persoas maiores coidadoras e terapeutas ocupacionais do ámbito xerontolóxico. Metodoloxía: O estudo enmárcase nunha metodoloxía mixta, empregándose o deseño secuencial exploratorio. Mentres que a parte cualitativa expúxose dende unha fenomenoloxía descritiva utilizándose a entrevista a persoas maiores coidadoras, a parte cuantitativa expúxose dende un estudo transversal mediante un cuestionario de elaboración propia a terapeutas ocupacionais. O ámbito de estudo é a Federación de Alzhéimer de Galicia. Resultados: Por un lado, a través da análise cuantitativa emerxeron tres temas nos que destaca que as persoas maiores coidadoras describen o coidado como un proceso complexo que afecta en tódalas esferas da súa vida. Por outro lado, da análise cuantitativa resáltase que os/as terapeutas ocupacionais entenden o coidado como ocupación que fai difícil o día a día das persoas coidadoras, pero ao mesmo tempo, como unha parte importante do seu traballo. Discusión e conclusións: O coidado como ocupación desempeñado por persoas maiores coidadoras é considerado, tanto polas propias persoas maiores coidadoras como polos/as terapeutas ocupacionais unha ocupación complexa con implicacións na saúde e benestar e que deriva en situacións de inxustiza ocupacional. [Resumen] Objetivo: Explorar y analizar el cuidado como ocupación desempeñada por personas mayores cuidadoras desde la perspectiva de personas mayores cuidadoras y terapeutas ocupacionales del ámbito gerontológico. Metodología: El estudio se enmarca en una metodología mixta, utilizándose el diseño secuencial exploratorio. Mientras que la parte cualitativa se expuso desde una fenomenología descriptiva utilizándose la entrevista a personas mayores cuidadoras, la parte cuantitativa se expuso desde un estudio transversal mediante un cuestionario de elaboración propia a terapeutas ocupacionales. El ámbito de estudio es la Federación de Alzhéimer de Galicia. Resultados: Por un lado, a través del análisis cualitativo emergieron tres temas en los que destaca que las personas mayores cuidadoras describen el cuidado como un proceso complejo que afecta en todas las esferas de su vida. Por otro lado, del análisis cuantitativo se resalta que los/as terapeutas ocupacionales entienden el cuidado como ocupación que hace difícil el día a día de las personas cuidadoras, pero al mismo tiempo también como una parte importante de su trabajo. Discusión y conclusiones: El cuidado como ocupación desempeñado por personas mayores cuidadoras es considerado tanto por las propias personas mayores cuidadoras como por los/as terapeutas ocupacionales una actividad compleja con implicaciones en la salud y bienestar, que deriva en situaciones de injusticia ocupacional. [Abstract] Aims: To explore and analyze care as an occupation performed by old caregivers from their perspective as well as from the point of view of occupational therapists in the gerontological field. Methodology: The study is set within the framework of mixed methodology, using the exploratory sequential design. The qualitative part was expounded from a descriptive phenomenology using interviews with elderly caregivers. However, in the quantitative part a cross-sectional study by means self-elaborated of a questionnaire with occupational therapists was used. The field of study is the Galician Federations of Alzheimer. Outcomes: On one hand, three topics emerged from the qualitative analysis, in which it stands out that old caregivers describe care as something complex that affects all the spheres in their lives. On the other hand, the quantitative analysis highlights that occupational therapists understand care occupation as something essential and difficult on the daily basis of caregivers, and, at the same time, as an important part of their job. Discussion and conclusions: Care as an occupation performed by elderly caregivers is considered by these and by occupational therapists as a complex occupation with implications for health and well-being which results in occupational injustice situations. Traballo fin de grao (UDC.FCS). Terapia ocupacional. Curso 2020-2021

P. 195-206 El voleibol ha sido considerado como un deporte de alta complejidad debido a sus exigencias técnicas, tácticas, físicas, psicológicas y de factores antropométricos. A lo largo de los años se ha producido un aumento en la homogeneidad de las características de los jugadores de voleibol en el alto rendimiento debido a la captación de talentos con similares aptitudes. El interés principal de este estudio fue determinar el rendimiento en una muestra de 53 jugadoras de voleibol que participan en diferentes categorías de competición federada de carácter nacional y autonómico. Las variables estudiadas fueron: categoría, variables antropométricas (masa corporal, talla, alcance, endomorfia, mesomorfia, ectomorfia), fuerza de tren superior (lanzamiento de balón, velocidad de golpeo sin batida y velocidad de golpeo con batida) y fuerza de tren inferior (CMJ, ABK, DJ y batida de ataque). El análisis estadístico consistió en una prueba de Shapiro-Wilks para determinar la normalidad de la muestra. El análisis comparativo entre las categorías se realizó utilizando un análisis de la varianza (ANOVA) de un factor. Los resultados reflejaron un aumento positivo considerable en las capacidades físicas, técnicas y las características antropométricas de las jugadoras con el aumento del nivel de competición, además de un mejor aprovechamiento de los gestos técnicos, reflejándose un aumento del rendimiento de los mismos SI