Views of Multiple Sclerosis Patients About Key Elements for a Decision Aid: A Qualitative Study

Multiple SclerosisEsclerosi múltipleEsclerosis múltipleBACKGROUND: Patients with multiple sclerosis (MS) may experience decisional conflict during treatment choice. Shared decision making (SDM), whereby patients and health professionals, primarily nurses, collaborate in making decisions, reduces this decisional conflict. It requires understanding large amounts of information and may be complex, especially when decisions affect patients' autonomy and quality and prolongation of life. Patient decision aids are tools in facilitating SDM. This study aimed to identify the key elements from the perspective of patients with relapsing-remitting MS to create a patient decision aid in the Spanish sociocultural context. METHODS: This is a qualitative study using focus groups led by a clinical nurse specialist. Semistructured interviews included healthcare needs and demands, the SDM process, and general characteristics of a peer support program. After the transcription of interview recordings, data were analyzed by thematic analysis and a constructivist naturalistic approach. RESULTS: Patients with MS (27) from Spain participated in 4 focus groups of 90 to 120 minutes each. Three overarching themes were identified: information access to sufficient high-quality data; knowledge of available treatment options, including efficacy, adverse effects, frequency, administration route, and the impact on daily life; decision-making role, engaged versus nonengaged patients. The former require support in facilitating their active involvement in decisions, whereas the latter prefer more passive health models. CONCLUSION: The needs identified by patients with relapsing-remitting MS regarding treatment choice in the Spanish setting align with those reported by other studies. The identified themes provide valuable information to design and develop a virtual patient decision aid jointly by clinical MS nurses and patients according to the International Patient Decision Aid Standards Collaboration criteria. This aid will help improve understanding between nurses and patients during SDM and facilitate the process

Construction and content validation of a measurement tool to evaluate person-centered therapeutic relationships in physiotherapy services

Objectives: this study sought to develop a tool for evaluating person-centered therapeutic relationships within physiotherapy services, and to examine the content validity of the same. Methods: a mixed qualitative and quantitative study was performed in three distinct phases: 1) the items were generated based on a literature review and a content analysis of focus groups of patients and physiotherapists; 2) an e-Delphi survey process was performed based on three rounds to select and refine the proposed questionnaire; 3) two rounds of cognitive interviews were conducted to evaluate the comprehension of items, the clarity of language and the appropriateness and relevance of content. Results: thirty-one items were generated based on the seven domains identified after the analysis of four focus groups of physiotherapists and four patient focus groups. Nine experts participated in the e-Delphi survey. Fifty-five patients participated in the two rounds of the cognitive pre-tests. Participating patients were from public and private physical therapy services. Based on the participants' suggestions, four items were removed, and four were added, whereas 16 were reworded. Conclusions: the final tool comprised 31 items divided into seven domains. The response format was based on a 5-point Likert frequency scale. The response options ranged from "strongly agree" to "strongly disagree"

Efeito da aplicação do ICI 80996 em diferentes fases do ciclo estral sobre a sincronização do cio em novilhas

With the objective of studying The efficiency of the synthetic prostaglandin analogue F2α ICI 80996 on heat synchronization, a study using 44 heifers was conducted. The synchronizing agent was applied by intramuscular injection at a dose of 0.5 mg/animal, in a system of two doses at an interval of eleven days. The heifers were divided into four groups of 11, where group A received the first dose on the second day of the cycle, B on the fourth, C on the eighth and D on the fourteenth day of the oestrus cycle. Following the application of the first dose, 0, 9.1, 100.0 and 100.0% of the animals of groups A, B, C and D respectively responded to treatment. The mean intervals between the application of the treatment and the start of heat were 64.4 and 72.6 hour respectively for groups C and D. Following application of the second dose, the total percentage of animals in heat was 93.2%, with a 100% response for groups A, C and 72.7% in group B. The mean interval between treatment and heat initiation for the four groups combined was 80.2 hours. Difference between groups was nonsignificant in relation to his interval and means were 80.9; 65.3; 87.3 and 83.3 hours respectively for groups A, B, C and D.Com o objetivo de estudar a eficiência do análogo sintétito da prostaglandina F2α ICI 80996, na sincronização do cio, 44 novilhas foram utilizadas. O agente sincronizante foi aplicado por via intramuscular, na dose de 0.5 mg por animal, em um esquema de duas doses com intervalo de onze dias. As novilhas foram divididas em quatro grupos de onze, onde o grupo A recebeu a primeira dose no segundo dia do ciclo, o B no quarto dia do ciclo, o C no oitavo dia do ciclo e o D no 14ª dia do ciclo estral. Após a aplicação da primeira dose, 0,0%, 9,1%, 100,0% e 100,0% dos animais pertencentes aos grupos A, B, C e D, respectivamente, responderam ao tratamento. Os intervalos médios entre o tratamento e o início do cio foram de 64,4 e 72,6 horas, respectivamente, para os grupos C e D. Após a aplicação da segunda dose, a percentagem total de animais em cio foi de 93,2%, com 100,0% de resposta nos grupos A, C e D, e 72,7% no grupo B. O intervalo médio entre o tratamento e o início do cio, para os quatro grupos conjuntamente, foi de 80,2 horas. Não houve diferença significativa entre os grupos, em relação a esse intervalo, e as médias foram de 80,9; 65,3; 87,3 e 83,3 horas respectivamente para os grupos A, B, C e D

Pathogenic variants of DNAJC12 and evaluation of the encoded cochaperone as a genetic modifier of hyperphenylalaninemia

This is the peer reviewed version of the following article: Pathogenic variants of DNAJC12 and evaluation of the encoded cochaperone as a genetic modifier of hyperphenylalaninemia. Human Mutation (2020): 25 April, which has been published in final form at [https://doi.org/10.1002/humu.24026. This article may be used for non-commercial purposes in accordance with Wiley Terms and Conditions for Use of Self-Archived VersionsThe variants identified in this study are openly available at http://www.lovd.nl/ with reference numbers 0000644164, 0000645396, 0000644166, and 0000405673Biallelic variants of the gene DNAJC12, which encodes a cochaperone, were recently described in patients with hyperphenylalaninemia (HPA). This paper reports the retrospective genetic analysis of a cohort of unsolved cases of HPA. Biallelic variants of DNAJC12 were identified in 20 patients (generally neurologically asymptomatic) previously diagnosed with phenylalanine hydroxylase (PAH) deficiency (phenylketonuria [PKU]). Further, mutations of DNAJC12 were identified in four carriers of a pathogenic variant of PAH. The genetic spectrum of DNAJC12 in the present patients included four new variants, two intronic changes c.298‐2A>C and c.502+1G>C, presumably affecting the splicing process, and two exonic changes c.309G>T (p.Trp103Cys) and c.524G>A (p.Trp175Ter), classified as variants of unknown clinical significance (VUS). The variant p.Trp175Ter was detected in 83% of the mutant alleles, with 14 cases homozygous, and was present in 0.3% of a Spanish control population. Functional analysis indicated a significant reduction in PAH and its activity, reduced tyrosine hydroxylase stability, but no effect on tryptophan hydroxylase 2 stability, classifying the two VUS as pathogenic variants. Additionally, the effect of the overexpression of DNAJC12 on some destabilizing PAH mutations was examined and a mutation‐specific effect on stabilization was detected suggesting that the proteostasis network could be a genetic modifier of PAH deficiency and a potential target for developing mutation‐specific treatments for PKUThis work was funded by grant PI16/00573, B2017/BMD-3721, the Fundación Isabel Gemio and the Fundación La Caixa (LCF/PR/PR16/11110018), an institutional grant from the Fundación Ramón Areces to the Centro de Biología Molecular Severo Ochoa, and the European Regional Development Fun

Pathogenic variants of DNAJC12 and evaluation of the encoded cochaperone as a genetic modifier of hyperphenylalaninemia

Biallelic variants of the gene DNAJC12, which encodes a cochaperone, were recently described in patients with hyperphenylalaninemia (HPA). This paper reports the retrospective genetic analysis of a cohort of unsolved cases of HPA. Biallelic variants of DNAJC12 were identified in 20 patients (generally neurologically asymptomatic) previously diagnosed with phenylalanine hydroxylase (PAH) deficiency (phenylketonuria [PKU]). Further, mutations of DNAJC12 were identified in four carriers of a pathogenic variant of PAH. The genetic spectrum of DNAJC12 in the present patients included four new variants, two intronic changes c.298-2A>C and c.502+1G>C, presumably affecting the splicing process, and two exonic changes c.309G>T (p.Trp103Cys) and c.524G>A (p.Trp175Ter), classified as variants of unknown clinical significance (VUS). The variant p.Trp175Ter was detected in 83% of the mutant alleles, with 14 cases homozygous, and was present in 0.3% of a Spanish control population. Functional analysis indicated a significant reduction in PAH and its activity, reduced tyrosine hydroxylase stability, but no effect on tryptophan hydroxylase 2 stability, classifying the two VUS as pathogenic variants. Additionally, the effect of the overexpression of DNAJC12 on some destabilizing PAH mutations was examined and a mutation-specific effect on stabilization was detected suggesting that the proteostasis network could be a genetic modifier of PAH deficiency and a potential target for developing mutation-specific treatments for PKU.This work was funded by grant PI16/00573, B2017/BMD-3721, the Fundación Isabel Gemio and the Fundación La Caixa (LCF/PR/PR16/11110018), an institutional grant from the Fundación Ramón Areces to the Centro de Biología Molecular Severo Ochoa, and the European Regional Development Fund.Peer reviewe

Model del Programa d’atenció domiciliària (ATDOM) de l’atenció primària i comunitària (APiC)

Atenció domiciliària; Atenció primària i comunitària; Cartera de serveisHome care; Primary and community care; Portfolio of servicesAtención domiciliaria; Atención primaria y comunitaria; Cartera de serviciosAquest document defineix les bases del Programa d’atenció domiciliària (ATDOM) de l’atenció primària i comunitària a Catalunya: els principis en els quals s’inspira, la cartera de serveis, uns elements clau en la prestació i els resultats esperats, el seguiment i l’avaluació

Práticas artísticas no ensino básico e secundário

O terceiro número da Revista Matéria-Prima afirma-se como mais uma plataforma de disseminação e de registo na área da educação e ensino artísticos. Ao propor-se o desafio da Matéria-Prima está a lançar-se um repto de intervenção e partilha a três tipos de intervenientes na educação pela arte: — Os professores, profissionais experimentados; — Os que se iniciam na profissão, através da frequência de mestrados e estágios formativos; — Os investigadores e professores universitários desta área. Esta chamada coloca em cima da mesa a partilha das experiências didácticas em sala de aula, a pesquisa sobre práticas profissionais. Experiências, algumas bem-sucedidas, outras menos, porventura, todas com um mérito substancial, que é a vontade de estabelecer comunidade entre os interessados pela educação artística. Este conjunto de textos poderá ajudar a cartografar práticas que se observam bastante distintas, entre as realidades dos países representados, Portugal, Espanha, Brasil, Argentina. Observa-se também que a prática dos educadores está longe de ser homogénea. É surpreendente determinar as diferenças entre contextos e regiões. Se umas são mais metódicas, e por isso consistentes, outras abrem-se à descoberta. Em todas um ponto de encontro: a revista Matéria-Prima, que assim assume cada vez mais o seu nome como um desígnio de intervenção.info:eu-repo/semantics/publishedVersio