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1.
SAGE Open Med ; 12: 20503121231222212, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38249944

RESUMO

Transforming the orthopedic landscape, hip arthroscopy pioneers a minimally invasive surgical approach for diagnosing and addressing hip pathologies. With its origins dating back to Burman's 1931 cadaveric study, this groundbreaking technique gained clinical relevance in 1939 through Takagi's report. However, the 1980s marked the actual emergence of hip arthroscopy for treating a wide range of hip disorders. Now, a staple in modern orthopedics, hip arthroscopy empowers patients with previously undiagnosed and untreated hip conditions, enabling them to obtain relief and reclaim their lives. By employing a compact camera and specialized tools, surgeons expertly navigate the hip joint, performing procedures from excising loose bodies and mending labral tears to addressing femoroacetabular impingement and tackling other intricate issues. This innovative approach has dramatically elevated patients' quality of life, allowing them to embrace targeted treatments and resume daily activities without resorting to lifestyle alterations.

2.
Behav Sci (Basel) ; 13(12)2023 Nov 25.
Artigo em Inglês | MEDLINE | ID: mdl-38131825

RESUMO

The disability field continues to face challenges in transforming and implementing meaningful and effective changes in person-centered services and supports aligned with the principles of the Convention on the Rights of Persons with Disabilities. To guide this transformative process effectively, a paradigm must be operationalized through a systematic approach. This article outlines such a systematic approach, consisting of two components: (a) aligning the paradigm's foundational pillars to the elements of an explanatory/implementation model (the Quality of Life and Supports Model) to facilitate the paradigm's operationalization, acceptance, and application and (b) aligning implementation, evaluation, and sustainability strategies with ecological systems, implementation targets, and the paradigm's foundational pillars to drive change across systems. The synergy and alignment between these components underscore the importance of linking public policies with professional and organizational practices to promote social inclusion and enhance the quality of life for people with disabilities. We provide practical examples highlighting the collaborative potential of this synergy and emphasize the significance of evidence-based and person-centered practices in promoting equal rights and social inclusion for people with disabilities.

3.
J Robot Surg ; 17(6): 2575-2581, 2023 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-37639163

RESUMO

Robotic-assisted orthopedic surgery (RAOS) is revolutionizing the field, offering the potential for increased accuracy and precision and improved patient outcomes. This comprehensive review explores the historical perspective, current robotic systems, advantages and limitations, clinical outcomes, patient satisfaction, future developments, and innovation in RAOS. Based on systematic reviews, meta-analyses, and recent studies, this article highlights the most significant findings and compares RAOS to conventional techniques. As robotic-assisted surgery continues to evolve, clinicians and researchers must stay informed and adapt their practices to provide optimal patient care. Evidence from published studies corroborates these claims, highlighting superior component positioning, decreased incidence of complications, and heightened patient satisfaction. However, challenges such as costs, learning curves, and technical issues must be resolved to fully capitalize on these advantages.


Assuntos
Procedimentos Ortopédicos , Procedimentos Cirúrgicos Robóticos , Humanos , Procedimentos Cirúrgicos Robóticos/métodos , Previsões , Assistência ao Paciente , Satisfação do Paciente
4.
Psychosoc Interv ; 32(1): 21-31, 2023 01.
Artigo em Inglês | MEDLINE | ID: mdl-37361629

RESUMO

Quality of life (QOL) has gained increased interest as a critical pathway to better understanding the lives and circumstances of children and adolescents in both the general population and among specific populations. Yet, QOL assessment among youngsters in youth care services remains a highly under-researched topic. This study examines the suitability and psychometric properties of a new QOL self-report scale for adolescents between 12 and 18 years old in youth care: the Quality of Life in Youth Services Scale (QOLYSS). The provisional version of the QOLYSS was pre-tested in a sample of 28 adolescents in youth care to examine its applicability and feasibility. Next, a comprehensive evaluation of the psychometric properties of the field-test version was conducted in a sample of 271 adolescents in youth care in Flanders, Belgium (M = 15.43, SD = 1.73). Classical item and factor analyses were carried out per subscale, (test-retest) reliability and item-discriminant validity of the subscales were examined, convergent validity was explored, and confirmatory factor analysis was used to examine the goodness-of-fit of different measurement models. Reliability measures of the scale are satisfactory, results are indicative of convergent validity, and confirmatory factor analysis provides evidence for the eight correlated factors model. Future lines of research concerning the ongoing development and application of the QOLYSS are discussed.


La calidad de vida (CV) ha despertado un mayor interés como un modo esencial de comprender mejor la vida y circunstancias de niños y adolescentes tanto en población general como específica. No obstante, la evaluación de la CV de los jóvenes en servicios de atención juvenil sigue siendo un tema poco investigado. El presente studio analiza la adecuación y las propiedades psicométricas de una nueva escala de autoinforme de la CV para adolescentes entre los 12 y 18 años de edad en servicios para jóvenes: la Escala de Calidad de Vida en los Servicios Juveniles (QOLYSS, según sus siglas en inglés). Se realizó una prueba piloto con la versión provisional de la QOLYSS con una muestra de 28 adolescentes en servicios de atención a jóvenes para ver en qué medida era aplicable y factible. Luego se llevó a cabo una evaluación general de las propiedades psicométricas de la versión de campo de la prueba con una muestra de 271 adolescentes en servicios de atención a jóvenes en Flandes, Bélgica (M = 15.43, SD = 1.73). Se llevó a cabo un análisis clásico de ítems y análisis factoriales por subescalas, se examinó la fiabilidad (test-retest) y la validez discriminante de los ítems por subescalas, se exploró la validez convergente y se utilizó análisis factorial confirmatorio para analizar el ajuste de diferentes modelos de medida. Las medidas de fiabilidad de la escala son satisfactorias y los resultados son indicativos de validez convergente, a la vez que el análisis factorial confirmatorio muestra un modelo de ocho factores correlacionados. Se discute sobre las futuras líneas de investigación en relación con el desarrollo actual y aplicación de la QOLYSS.

5.
J Microbiol Immunol Infect ; 56(5): 939-950, 2023 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-37365052

RESUMO

BACKGROUND/PURPOSE(S): During a viral infection, the immune response is mediated by the toll-like receptors and myeloid differentiation Factor 88 (MyD88) that play an important role sensing infections such as SARS-CoV-2 which has claimed the lives of more than 6.8 million people around the world. METHODS: We carried out a cross-sectional with a population of 618 SARS-CoV-2-positive unvaccinated subjects and further classified based on severity: 22% were mild, 34% were severe, 26% were critical, and 18% were deceased. Toll Like Receptor 7 (TLR7) single-nucleotide polymorphisms (rs3853839, rs179008, rs179009, and rs2302267) and MyD88 (rs7744) were genotyped using TaqMan OpenArray. The association of polymorphisms with disease outcomes was performed by logistic regression analysis adjusted by covariates. RESULTS: A significant association of rs3853839 and rs7744 of the TLR7 and MyD88 genes, respectively, was found with COVID-19 severity. The G/G genotype of the rs3853839 TLR7 was associated with the critical outcome showing an Odd Ratio = 1.98 (95% IC = 1.04-3.77). The results highlighted an association of the G allele of MyD88 gene with severe, critical and deceased outcomes. Furthermore, in the dominant model (AG + GG vs. AA), we observed an Odd Ratio = 1.70 (95% CI = 1.02-2.86) with severe, Odd Ratio = 1.82 (95% CI = 1.04-3.21) with critical, and Odd Ratio = 2.44 (95% CI = 1.21-4.9) with deceased outcomes. CONCLUSION: To our knowledge this work represents an innovative report that highlights the significant association of TLR7 and MyD88 gene polymorphisms with COVID-19 outcomes and the possible implication of the MyD88 variant with D-dimer and IFN-α concentrations.


Assuntos
COVID-19 , Receptor 7 Toll-Like , Humanos , Receptor 7 Toll-Like/genética , Receptor 7 Toll-Like/metabolismo , Predisposição Genética para Doença , Fator 88 de Diferenciação Mieloide/genética , Estudos Transversais , COVID-19/genética , SARS-CoV-2 , Genótipo , Polimorfismo de Nucleotídeo Único/genética
6.
Behav Sci (Basel) ; 13(5)2023 Apr 28.
Artigo em Inglês | MEDLINE | ID: mdl-37232602

RESUMO

The Quality of Life Supports Model (QOLSM) is emerging as a new framework that is applicable to people with disabilities in general, but specially to people with intellectual and developmental disabilities (IDD). The aim of this conceptual paper is twofold. Firstly, it aims to show the overlap between the QOLSM and the Convention on the Rights of People with Disabilities (CRPD), highlighting how the former can be used to address many of the goals and rights embedded in the latter. Secondly, the article seeks to illustrate the connection between these two frameworks and highlight the importance of acknowledging and measuring the rights of people with IDD. Therefore, we posit that the new #Rights4MeToo scale is ideal for: (a) providing accessible means and opportunities for people with IDD to identify and communicate their needs regarding their rights; (b) enhancing the supports and services that families and professionals provide to them; and (c) guiding organizations and policies to identify strengths and needs in relation to rights and quality of life. We also discuss future research needs and summarize the main findings of this article, highlighting its implications for practice and research.

7.
Artigo em Inglês | MEDLINE | ID: mdl-36674341

RESUMO

Although sexuality, reproductive health, and starting a family are human rights that should be guaranteed for all citizens, they are still taboo issues for people with intellectual disability (ID), and even more so for women with ID. This paper systematically reviews the current qualitative and quantitative evidence on the rights of people with ID in regard to Articles 23 (right to home and family) and 25 (health, specifically sexual and reproductive health) of the Convention on the Rights of Persons with Disabilities (CRPD). A systematic review of the current literature, following PRISMA 2020, was carried out in ERIC, PsychInfo, Scopus, PubMed, ProQuest, and Web of Science. In all, 151 articles were included for review. The studies were categorized into six themes: attitudes, intimate relationships, sexual and reproductive health, sexuality and sex education, pregnancy, and parenthood. There are still many barriers that prevent people with ID from fully exercising their right to sexuality, reproductive health, and parenthood, most notably communicative and attitudinal barriers. These findings underline the need to continue advancing the rights of people with ID, relying on Schalock and Verdurgo's eight-dimensional quality of life model as the ideal conceptual framework for translating such abstract concepts into practice and policy.


Assuntos
Pessoas com Deficiência , Deficiência Intelectual , Gravidez , Humanos , Feminino , Qualidade de Vida , Saúde Reprodutiva , Comportamento Sexual , Sexualidade , Conhecimentos, Atitudes e Prática em Saúde
8.
Clin Rheumatol ; 42(1): 203-214, 2023 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-36201123

RESUMO

INTRODUCTION/OBJECTIVES: Persistent hyperuricemia is a key factor in gout; however, only 13.5% of hyperuricemic individuals manifest the disease. The gut microbiota could be one of the many factors underlying this phenomenon. We aimed to assess the difference in taxonomic and predicted functional profiles of the gut microbiota between asymptomatic hyperuricemia (AH) individuals and gout patients. METHODS: The V3-V4 region of the 16S rRNA gene of the gut microbiota of AH individuals, gout patients, and controls was sequenced. Bioinformatic analyses were carried out with QIIME2 and phyloseq to determine the difference in the relative abundance of bacterial genera among the study groups. Tax4fun2 was used to predict the functional profile of the gut microbiota. RESULTS: AH individuals presented a higher abundance of butyrate- and propionate-producing bacteria than gout patients; however, the latter had more bacteria capable of producing acetate. The abundance of Prevotella genus bacteria was not significantly different between the patients but was higher than that in controls. This result was corroborated by the functional profile, in which AH individuals had less pyruvate oxidase abundance than gout patients and less abundance of an enzyme that regulates glutamate synthetase activation than controls. CONCLUSION: We observed a distinctive taxonomic profile in AH individuals characterized by a higher abundance of short-chain fatty acid-producing bacteria in comparison to those observed in gout patients. Furthermore, we provide scientific evidence that indicates that the gut microbiota of AH individuals could provide anti-inflammatory mediators, which prevent the appearance of gout flares. Key Points • AH and gout patients both have a higher abundance of Prevotella genus bacteria than controls. • AH individuals' gut microbiota had more butyrate- and propionate-producing bacteria than gout patients. • The gut microbiome of AH individuals provides anti-inflammatory mediators that could prevent gout flares.


Assuntos
Microbioma Gastrointestinal , Gota , Hiperuricemia , Humanos , Microbioma Gastrointestinal/genética , Propionatos , RNA Ribossômico 16S/genética , Ácidos Graxos Voláteis , Butiratos , Bactérias/genética , Anti-Inflamatórios
9.
Front Immunol ; 13: 936106, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-36341434

RESUMO

Severe acute respiratory syndrome-coronavirus 2 (SARS-CoV-2) infection triggers inflammatory clinical stages that affect the outcome of patients with coronavirus disease 2019 (COVID-19). Disease severity may be associated with a metabolic imbalance related to amino acids, lipids, and energy-generating pathways. The aim of this study was to characterize the profile of amino acids and acylcarnitines in COVID-19 patients. A multicenter, cross-sectional study was carried out. A total of 453 individuals were classified by disease severity. Levels of 11 amino acids, 31 acylcarnitines, and succinylacetone in serum samples were analyzed by electrospray ionization-triple quadrupole tandem mass spectrometry. Different clusters were observed in partial least squares discriminant analysis, with phenylalanine, alanine, citrulline, proline, and succinylacetone providing the major contribution to the variability in each cluster (variable importance in the projection >1.5). In logistic models adjusted by age, sex, type 2 diabetes mellitus, hypertension, and nutritional status, phenylalanine was associated with critical outcomes (odds ratio=5.3 (95% CI 3.16-9.2) in the severe vs. critical model, with an area under the curve of 0.84 (95% CI 0.77-0.90). In conclusion the metabolic imbalance in COVID-19 patients might affect disease progression. This work shows an association of phenylalanine with critical outcomes in COVID-19 patients, highlighting phenylalanine as a potential metabolic biomarker of disease severity.


Assuntos
COVID-19 , Diabetes Mellitus Tipo 2 , Humanos , SARS-CoV-2 , Estudos Transversais , Aminoácidos , Fenilalanina
10.
Viruses ; 14(9)2022 09 07.
Artigo em Inglês | MEDLINE | ID: mdl-36146782

RESUMO

SARS-CoV-2 uses the ACE2 receptor and the cellular protease TMPRSS2 for entry into target cells. The present study aimed to establish if the TMPRSS2 polymorphisms are associated with COVID-19 disease. The study included 609 patients with COVID-19 confirmed by RT-PCR test and 291 individuals negative for the SARS-CoV-2 infection confirmed by RT-PCR test and without antibodies anti-SARS-CoV-2. Four TMPRSS2 polymorphisms (rs12329760, rs2298659, rs456298, and rs462574) were determined using the 5'exonuclease TaqMan assays. Under different inheritance models, the rs2298659 (pcodominant2 = 0.018, precessive = 0.006, padditive = 0.019), rs456298 (pcodominant1 = 0.014, pcodominant2 = 0.004; pdominant = 0.009, precessive = 0.004, padditive = 0.0009), and rs462574 (pcodominant1 = 0.017, pcodominant2 = 0.004, pdominant = 0.041, precessive = 0.002, padditive = 0.003) polymorphisms were associated with high risk of developing COVID-19. Two risks (ATGC and GAAC) and two protectives (GAGC and GAGT) haplotypes were detected. High levels of lactic acid dehydrogenase (LDH) were observed in patients with the rs462574AA and rs456298TT genotypes (p = 0.005 and p = 0.020, respectively), whereas, high heart rate was present in patients with the rs462574AA genotype (p = 0.028). Our data suggest that the rs2298659, rs456298, and rs462574 polymorphisms independently and as haplotypes are associated with the risk of COVID-19. The rs456298 and rs462574 genotypes are related to high levels of LDH and heart rate.


Assuntos
COVID-19 , Enzima de Conversão de Angiotensina 2/genética , COVID-19/genética , Exonucleases , Humanos , Ácido Láctico , Oxirredutases , Peptidil Dipeptidase A/genética , SARS-CoV-2/genética , Serina Endopeptidases/genética
11.
J Biomater Appl ; 37(5): 773-785, 2022 11.
Artigo em Inglês | MEDLINE | ID: mdl-35993184

RESUMO

Wound dressing composite films of O-carboxymethyl chitosan (OCMC) and gelatin were prepared and mixed with hydroxyapatite (HA) composited with Silver (Ag) and Copper (Cu) at different concentrations. The chemical, thermal, morphological, and biological properties of the composite films were studied. The analysis by FTIR confirmed the presence of interactions between gelatin and OCMC, and at the same time, the polymer matrix interactions with Ag-Cu/HA complex. The inclusion of nanoparticle to the composite was associated with an improvement of the thermal stability, morphological roughness, a 9-12% more hydrophobic behavior (composite C1, C5, and C8), increase in antibacterial activity from 23.2 to 33.1% for gram negative bacteria and from 37.28 to 40.59% for gram positive bacteria, and with a cell viability greater than 100% for 24 and 72 h. The films obtained can serve as a wound healing dressing and regenerating biomaterial.


Assuntos
Quitosana , Prata , Prata/farmacologia , Prata/química , Gelatina/química , Cobre/farmacologia , Durapatita , Quitosana/química , Antibacterianos/farmacologia , Antibacterianos/química , Cicatrização
12.
Cells ; 11(16)2022 08 17.
Artigo em Inglês | MEDLINE | ID: mdl-36010629

RESUMO

The preservation of the chondrogenic phenotype and hypoxia-related physiological microenvironment are major challenges in the 2D culture of primary human chondrocytes. To address this problem, we develop a 3D culture system generating scaffold-free spheroids from human chondrocytes. Our results highlight the chondrogenic potential of cultured human articular chondrocytes in a 3D system combined with hypoxia independently of the cartilage source. After 14 days of culture, we developed spheroids with homogenous diameter and shape from hyaline cartilage donors. Spheroids generated in hypoxia showed a significantly increased glycosaminoglycans synthesis and up-regulated the expression of SOX9, ACAN, COL2A1, COMP, and SNAI1 compared to those obtained under normoxic conditions. Therefore, we conclude that spheroids developed under hypoxic conditions modulate the expression of chondrogenesis-related genes and native tissue features better than 2D cultures. Thus, this scaffold-free 3D culture system represents a novel in vitro model that can be used for cartilage biology research.


Assuntos
Cartilagem Articular , Condrócitos , Cartilagem Articular/metabolismo , Condrócitos/metabolismo , Condrogênese , Humanos , Hipóxia/metabolismo
13.
Life (Basel) ; 12(8)2022 Jul 25.
Artigo em Inglês | MEDLINE | ID: mdl-35892919

RESUMO

Cardiovascular diseases are a leading cause of death worldwide. Current treatments directed at heart repair have several disadvantages, such as a lack of donors for heart transplantation or non-bioactive inert materials for replacing damaged tissue. Because of the natural lack of regeneration of cardiomyocytes, new treatment strategies involve stimulating heart tissue regeneration. The basic three elements of cardiac tissue engineering (cells, growth factors, and scaffolds) are described in this review, with a highlight on the role of artificial scaffolds. Scaffolds for cardiac tissue engineering are tridimensional porous structures that imitate the extracellular heart matrix, with the ability to promote cell adhesion, migration, differentiation, and proliferation. In the heart, there is an important requirement to provide scaffold cellular attachment, but scaffolds also need to permit mechanical contractility and electrical conductivity. For researchers working in cardiac tissue engineering, there is an important need to choose an adequate artificial scaffold biofabrication technique, as well as the ideal biocompatible biodegradable biomaterial for scaffold construction. Finally, there are many suitable options for researchers to obtain scaffolds that promote cell-electrical interactions and tissue repair, reaching the goal of cardiac tissue engineering.

14.
Psicothema ; 34(2): 182-191, 2022 May.
Artigo em Inglês | MEDLINE | ID: mdl-35485530

RESUMO

BACKGROUND: The quality of life construct provides an ideal conceptual framework for translating such abstract concepts as self-determination, equity, accessibility, and inclusion. Through consultation with expert raters, we sought to develop and validate a bank of indicators and items, based on the quality of life conceptual framework, to be used as a means of evaluating and implementing the Articles of the Convention on the Rights of Persons with Disabilities (CRPD). METHOD: Thirty-two experts in the field of intellectual and developmental disabilities participated, rating the suitability, importance, and clarity of a bank of 296 items, as well as the relevance of controlling for 70 sociodemographic variables. RESULTS: After qualitative and quantitative analysis of the data, the final selection comprised 60 sociodemographic variables and 153 items that scored highly on all criteria and produced an excellent level of agreement between the experts. CONCLUSIONS: This bank of items and set of sociodemographic variables constitute the pilot version of a CRPD assessment and monitoring instrument with sufficient evidence of content validity, which may be useful in developing evidence-based practices and in detecting rights violations.


Assuntos
Pessoas com Deficiência , Qualidade de Vida , Consenso , Prática Clínica Baseada em Evidências , Humanos
15.
J Appl Res Intellect Disabil ; 35(5): 1109-1118, 2022 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-35384179

RESUMO

BACKGROUND: Psychotropic medication is frequently administered to people with intellectual disability with mental health and/or behavioural problems, instead of other non-pharmacological interventions. This study describes the mental health and behavioural problems of people aging with intellectual disability, their psychotropic medication intake, and the factors contributing to a greater medication intake. METHOD: The sample consisted of 991 people with intellectual disability over 45 years. Descriptive statistics and multinominal logistic regression were carried out. RESULTS: Antipsychotics were the most used psychotropic drug. Older people with mild intellectual disability living in institutions and affected by mental health and behavioural problems were more likely to take larger amounts of psychotropic medication. CONCLUSIONS: Antipsychotics continue to be widely used by people with intellectual disability and mental and behavioural health problems, especially those in institutionalised settings. Future research should consider if medication intake could be reduced providing better supports in the community and non-pharmacological interventions.


Assuntos
Antipsicóticos , Deficiência Intelectual , Idoso , Envelhecimento , Antipsicóticos/uso terapêutico , Humanos , Deficiência Intelectual/tratamento farmacológico , Deficiência Intelectual/epidemiologia , Prevalência , Psicotrópicos/uso terapêutico
17.
Rehabil Psychol ; 67(2): 205-214, 2022 May.
Artigo em Inglês | MEDLINE | ID: mdl-35298204

RESUMO

PURPOSE/OBJECTIVE: Although the concept of quality of life (QoL) has become a reference framework for the provision of support and services to people with intellectual disability (ID), its conceptualization and application for persons with Down syndrome (DS) have received little attention. This study analyzed QoL outcomes in children and young people with DS and examined the influence of several individual and environmental variables on QoL. RESEARCH METHOD/DESIGN: A cross-sectional study was conducted. Participants were 404 children and young people with DS aged 4 to 21 who were users of 73 organizations providing services to people with ID. The KidsLife-Down Scale was used to assess QoL-related personal outcomes perceived by professionals and relatives. Descriptive statistics were calculated. Correlation coefficients were computed and multiple regression analyses were conducted for each QoL domain and for the composite score. RESULTS: The highest scores were obtained in material well-being, physical well-being, and rights, whereas the lowest scores were observed in self-determination and social inclusion. Multiple regression analyses showed that age, level of ID, level of support needs, degree of dependency, type of schooling, and size of organization were predicting factors of scores in QoL domains. CONCLUSIONS: This study underlines priority areas and relevant variables that must be considered when planning, implementing, and assessing supports and services to improve the QoL of children and young people with DS. (PsycInfo Database Record (c) 2022 APA, all rights reserved).


Assuntos
Síndrome de Down , Deficiência Intelectual , Adolescente , Criança , Estudos Transversais , Humanos , Autonomia Pessoal , Qualidade de Vida , Inquéritos e Questionários
18.
Front Immunol ; 13: 812940, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35250987

RESUMO

Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) is responsible for the current coronavirus disease 2019 (COVID-19) pandemic, affecting more than 219 countries and causing the death of more than 5 million people worldwide. The genetic background represents a factor that predisposes the way the host responds to SARS-CoV-2 infection. In this sense, genetic variants of ACE and ACE2 could explain the observed interindividual variability to COVID-19 outcomes. In order to improve the understanding of how genetic variants of ACE and ACE2 are involved in the severity of COVID-19, we included a total of 481 individuals who showed clinical manifestations of COVID-19 and were diagnosed by reverse transcription PCR (RT-PCR). Genomic DNA was extracted from peripheral blood and saliva samples. ACE insertion/deletion polymorphism was evaluated by the high-resolution melting method; ACE single-nucleotide polymorphism (SNP) (rs4344) and ACE2 SNPs (rs2285666 and rs2074192) were genotyped using TaqMan probes. We assessed the association of ACE and ACE2 polymorphisms with disease severity using logistic regression analysis adjusted by age, sex, hypertension, type 2 diabetes, and obesity. The severity of the illness in our study population was divided as 31% mild, 26% severe, and 43% critical illness; additionally, 18% of individuals died, of whom 54% were male. Our results showed in the codominant model a contribution of ACE2 gene rs2285666 T/T genotype to critical outcome [odds ratio (OR) = 1.83; 95%CI = 1.01-3.29; p = 0.04] and to require oxygen supplementation (OR = 1.76; 95%CI = 1.01-3.04; p = 0.04), in addition to a strong association of the T allele of this variant to develop critical illness in male individuals (OR = 1.81; 95%CI = 1.10-2.98; p = 0.02). We suggest that the T allele of rs2285666 represents a risk factor for severe and critical outcomes of COVID-19, especially for men, regardless of age, hypertension, obesity, and type 2 diabetes.


Assuntos
Enzima de Conversão de Angiotensina 2/genética , COVID-19/genética , Peptidil Dipeptidase A/genética , Polimorfismo de Nucleotídeo Único/genética , Alelos , COVID-19/virologia , Diabetes Mellitus Tipo 2/genética , Diabetes Mellitus Tipo 2/virologia , Genótipo , Humanos , Masculino , SARS-CoV-2/patogenicidade
20.
Psicothema (Oviedo) ; 34(2): 182-191, 2022. tab
Artigo em Inglês | IBECS | ID: ibc-204104

RESUMO

Background: The quality of life construct provides an ideal conceptualframework for translating such abstract concepts as self-determination,equity, accessibility, and inclusion. Through consultation with expertraters, we sought to develop and validate a bank of indicators and items,based on the quality of life conceptual framework, to be used as a means ofevaluating and implementing the Articles of the Convention on the Rightsof Persons with Disabilities (CRPD). Method: Thirty-two experts in thefield of intellectual and developmental disabilities participated, ratingthe suitability, importance, and clarity of a bank of 296 items, as well asthe relevance of controlling for 70 sociodemographic variables. Results:After qualitative and quantitative analysis of the data, the final selectioncomprised 60 sociodemographic variables and 153 items that scored highlyon all criteria and produced an excellent level of agreement between theexperts. Conclusions: This bank of items and set of sociodemographicvariables constitute the pilot version of a CRPD assessment and monitoringinstrument with sufficient evidence of content validity, which may be usefulin developing evidence-based practices and in detecting rights violations.


Antecedentes: el constructo de calidad de vida proporcionaun marco conceptual ideal para traducir conceptos abstractos comoautodeterminación, equidad, accesibilidad o inclusión. Mediante una consultaa expertos se pretende desarrollar y validar un banco de indicadores e ítemsbasados en el marco conceptual de la calidad de vida que pueda ser utilizadopara evaluar e implementar los derechos recogidos en la Convención sobre losDerechos de las Personas con Discapacidad (CDPD). Método: participaron32 expertos en el campo de las discapacidades intelectuales y del desarrollocalificando la idoneidad, importancia y claridad de un banco de 296ítems, así como la relevancia de controlar 70 variables sociodemográficas.Resultados: tras el análisis cualitativo y cuantitativo de los datos, se llegóa una solución consensuada de 60 variables sociodemográficas y 153 ítemsque puntuaron alto en todos los criterios y obtuvieron un excelente grado deacuerdo entre los expertos. Conclusiones: este banco de ítems y conjunto devariables sociodemográficas constituye la versión piloto de un instrumentode evaluación y seguimiento de la CDPD con suficientes evidencias devalidez basadas en el contenido, que puede ser útil para desarrollar prácticasbasadas en la evidencia y para detectar violaciones de derechos.


Assuntos
Humanos , Masculino , Feminino , Consenso , Pessoas com Deficiência Mental , Qualidade de Vida , Defesa das Pessoas com Deficiência , Deficiência Intelectual , Deficiências do Desenvolvimento , Prática Clínica Baseada em Evidências , Psicologia , 57358 , Equidade , 25783 , 24960
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