A indústria automóvel e o caminho para a sustentabilidade

Dissertação de Mestrado em Ciênciais Empresariais – Ramo da LogísticaOs modelos atuais de consumo e produção têm contribuído para que a sociedade atribua cada vez mais importância ao Desenvolvimento Sustentável. O aumento da consciencialização ambiental e social da sociedade tem-se manifestado num aumento de pressões para com as empresas para a implementação de soluções mais sustentáveis. A cadeia de abastecimento automóvel é caracterizada pelo elevado desenvolvimento industrial, que consequentemente tem levado a um aumento do consumo. Este facto, tem levando a um intenso debate acerca da crescente escassez de recursos e produção de resíduos, o que se torna cada vez mais uma ameaça não só à viabilidade das próprias organizações como também do planeta. Deste modo, em contraponto ao modelo linear, emerge um novo modelo de negócio – “Economia Circular” - que permite desassociar o crescimento económico a geração de resíduos e visa a proteção ambiental, prevenção da poluição e o desenvolvimento sustentável. Com este estudo pretende-se identificar qual o grau de conhecimento por parte da organização Visteon Portuguesa Ltd. acerca do novo modelo de negócio, através da análise de um dos seus processos internos. Como forma de investigação foi feito um enquadramento teórico baseado em literatura científica, o qual foi complementado com a análise dos processos internos da Visteon Portugues Ltd. Dos resultados obtidos pode-se verificar que há conhecimento acerca da Economia Circular, e uma procura constante em melhorar os processos, tendo sempre em conta o conceito de Sustentabilidade. As empresas em geral precisam reavaliar a sua estratégia e repensar as suas escolhas, olhando para este novo modelo de auto sustentabilidade como vantagem competitiva e único futuro empresarial.Current models of consumption and production have contributed to society's increasingly focus in the importance of Sustainable Development. The increase in environmental and social awareness of society has been manifested in a growth of pressure on companies to implement more sustainable solutions. The automotive supply chain is characterized by high industrial development, which has consequently led to an increase in consumption. This has led to an intense debate about the growing scarcity of resources and waste production, which is increasingly a threat not only to the viability of the organizations themselves but also of the planet. Thus, in contrast to the linear model, a new business model emerges - "Circular Economy" - that allows disassociating economic growth from waste generation and aims at environmental protection, pollution prevention and sustainable development. This study intends to identify the degree of knowledge on the part of Visteon Portuguesa Ltd. about the new business model, through the analysis of one of its internal processes. As a form of research, a theoretical framework was been developed based on scientific literature, which was complemented by an analysis of the internal processes of Visteon Portuguesa Ltd. From the obtained results, it is possible to verify that there is knowledge about the Circular Economy, and a constant search to improve the processes, always taking into account the concepts of Sustainability. Businesses in general need to reevaluate their strategy and rethink their choices by looking at this new model of self-sustainability as a competitive advantage and unique business future

Intervenção psicomotora com crianças institucionalizadas dos 0 aos 12 anos no Centro de Acolhimento Temporário I da Associação Amigos da Criança e da Família "Chão dos Meninos"

O presente relatório de estágio insere-se no Mestrado em Psicomotricidade da Universidade de Évora e surge na sequência da realização do estágio curricular que decorreu na Associação Amigos da Criança e da Família “Chão dos Meninos”, em particular, no Centro de Acolhimento Temporário I, onde residem crianças dos 0 aos 12 anos de idade. Pretende-se enquadrar e demonstrar a importância da intervenção psicomotora e o trabalho desempenhado por um psicomotricista neste tipo de contexto institucional, conhecer o efeito da intervenção psicomotora realizada com os diversos casos e relatar as atividades desenvolvidas no decorrer do estágio curricular, quer em contexto de sessão quer ao nível da Associação. Conclui-se que a intervenção psicomotora surge como uma resposta eficaz à promoção das competências e à minimização das fragilidades de crianças institucionalizadas, proporcionando um melhor desenvolvimento global; Abstract: Psychomotor Intervention with Institutionalized Children from 0 to 12 years old at the Temporary Reception Center I of the Associação Amigos da Criança e da Família “Chão dos Meninos” The following Internship Report is part of the Master in Psychomotricity at the University of Évora and follows the completion of the Curricular Internship that took place at the Associação Amigos da Criança e da Família "Chão dos Meninos”, in particular, at the Temporary Reception Center I, where children from 0 to 12 years old reside. This report is intended to frame and demonstrate the importance of psychomotor intervention and the work performed by a psychomotricist in this type of institutional context, to know the effect of psychomotor intervention performed with the different cases and to report the activities developed during the curricular internship, either in the context of session or at the Association level. Therefore, we conclude that the psychomotor intervention emerges as an effective response to the promotion of competences and minimization of the fragilities of institutionalized children, providing a better global development

MicroRNA Profile, Putative Diagnostic Biomarkers and RNA-Based Therapies in the Inherited Lipid Storage Disease Niemann-Pick Type C

Lipids are essential for cellular function and are tightly controlled at the transcriptional and post-transcriptional levels. Dysregulation of these pathways is associated with vascular diseases, diabetes, cancer, and several inherited metabolic disorders. MicroRNAs (miRNAs), in particular, are a family of post-transcriptional gene repressors associated with the regulation of many genes that encode proteins involved in multiple lipid metabolism pathways, thereby influencing their homeostasis. Thus, this class of non-coding RNAs (ncRNAs) has emerged as a promising therapeutic target for the treatment of lipid-related metabolic alterations. Most of these miRNAs act at an intracellular level, but in the past few years, a role for miRNAs as intercellular signaling molecules has also been uncovered since they can be transported in bodily fluids and used as potential biomarkers of lipid metabolic alterations. In this review, we point out the current knowledge on the miRNA signature in a lysosomal storage disorder associated with lipid dysfunction, Niemann-Pick type C, and discuss the potential use of miRNAs as biomarkers and therapeutic targets for RNA-based therapies.This research was funded by FCT (Fundação para a Ciência e Tecnologia), grant number EXPL/BTM-TEC/1477/2021; UIDB/00211/2020—Centro de Estudos de Ciência Animal/Center for the Study of Animal Science; LA/P/0059/2020—Laboratório Associado para Ciência Animal e Veterinária/Associate Laboratory for Animal and Veterinary Sciences.info:eu-repo/semantics/publishedVersio

Psychometric properties of the attitudes assessment scale towards the recovering self-care process

Introduction: After a critical event, which has left the person dependent in self-care activities, their recovery is influenced by the emotions and attitudes that the person adopts. Objective: To develop an instrument that allows the assessment of attitudes and emotional factors with the greatest impact on recovery, of a person dependent on basic self-care activities. Methods: A methodological study that aims to describe the construction and study of the metric properties of the Attitudes Assessment Scale during the self-care recovery process. Data were collected at a hospital and two long-term care units, between October 2019 and December 2020, 118 people with dependence on basic self-care activities participated. Results: A four-dimensional structure with 37 items showed adequate psychometric characteristics of validity after an exploratory factorial analysis. The coefficient alpha of Cronbach varied between 0.84 and 0.96, suggesting a good internal consistency. Conclusion: Assessment of emotional disorders and attitudes of the person, with a deficit in self-care, during the recovery process, contributes to a more effective and integrated recognition and planning of care needs, ensuring higher quality and a more personalized care. The replicability and validation of this measure in other contexts, countries and cultures, can probably contribute to a more informed analysis of the attitudes of the person with dependence in the basic self-care activities, during the recovery process after a disabling event.info:eu-repo/semantics/publishedVersio

Development of a Next-Generation Sequencing (NGS) Gene Panel for Lysosomal Storage Diseases

Molecular genetic testing has not been used extensively as the primary diagnostic test for LSDs but this may change with the advent of rapid, reliable and affordable high-throughput DNA sequencing, the so called next generation sequencing. The aim of this work was to develop a next-generation sequencing (NGS)-based workflow for the identification of variations in exons and their intronic flanking regions in genes involved in lysosomal function.This work was partially supported by N2020 (NORTE2020/DESVENDAR/DGH/jn2016). MFC is a grantee from the FCT (SFRH/BPD/101965/2014).N/

Development of a Next-Generation Sequencing (NGS) Gene Panel for Lysosomal Storage Diseases

Molecular genetic testing has not been used extensively as the primary diagnostic test for LSDs but this may change with the advent of rapid, reliable and affordable high-throughput DNA sequencing, the so called next generation sequencing. The aim of this work was to develop a next-generation sequencing (NGS)-based workflow for the identification of variations in exons and their intronic flanking regions in genes involved in lysosomal function.This work was partially supported by N2020 (NORTE2020/DESVENDAR/DGH/jn2016). MFC is a grantee from the FCT (SFRH/BPD/101965/2014).N/

Classification of the pre-exam anxiety levels in physically inactive students from 48 countries: application of the K-means clustering machine learning algorithm.

Physical inactivity is a behavioral factor that is strongly associated with anxiety symptoms in children and adolescents. Anxiety is a disabling condition that reduces academic performance (Kandola et al., 2020).info:eu-repo/semantics/publishedVersio

Challenges in the Definitive Diagnosis of Niemann–Pick Type C—Leaky Variants and Alternative Transcripts

(This article belongs to the Section Genetic Diagnosis)Niemann-Pick type C (NPC, ORPHA: 646) is a neuro-visceral, psychiatric disease caused predominantly by pathogenic variants in the NPC1 gene or seldom in NPC2. The rarity of the disease, and its wide range of clinical phenotypes and ages of onset, turn the diagnosis into a significant challenge. Other than the detailed clinical history, the typical diagnostic work-up for NPC includes the quantification of pathognomonic metabolites. However, the molecular basis diagnosis is still of utmost importance to fully characterize the disorder. Here, the authors provide an overview of splicing variants in the NPC1 and NPC2 genes and propose a new workflow for NPC diagnosis. Splicing variants cover a significant part of the disease-causing variants in NPC. The authors used cDNA analysis to study the impact of such variants, including the collection of data to classify them as leaky or non-leaky pathogenic variants. However, the presence of naturally occurring spliced transcripts can misdiagnose or mask a pathogenic variant and make the analysis even more difficult. Analysis of the NPC1 cDNA in NPC patients in parallel with controls is vital to assess and detect alternatively spliced forms. Moreover, nonsense-mediated mRNA decay (NMD) analysis plays an essential role in evaluating the naturally occurring transcripts during cDNA analysis and distinguishing them from other pathogenic variants' associated transcripts.This research was funded by national funds through FCT—Fundação para a Ciência e a Tecnologia, I.P., in the scope of the project EXPL/BTM-TEC/1477/2021. This work was also financially supported with funding from FCT/MCTES (UIDB/00211/2020) through national funds.info:eu-repo/semantics/publishedVersio

Solving a case of allelic dropout in the GNPTAB gene: implications in the molecular diagnosis of mucolipidosis type III alpha/beta

While being well known that the diagnosis of many genetic disorders relies on a combination of clinical suspicion and confirmatory genetic testing, not rarely, however, genetic testing needs much perseverance and cunning strategies to identify the causative mutation(s). Here we present a case of a thorny molecular diagnosis of mucolipidosis type III alpha/beta, which is an autosomal recessive lysosomal storage disorder, caused by a defect in the GNPTAB gene that codes for the α/β-subunits of the GlcNAc-1-phosphotransferase. We used both cDNA and gDNA analyses to characterize a mucolipidosis type III alpha/beta patient whose clinical diagnosis was already confirmed biochemically. In a first stage only one causal mutation was identified in heterozygosity, the already described missense mutation c.1196C>T(p.S399F), both at cDNA and gDNA levels. Only after conducting inhibition of nonsense-mediated mRNA decay (NMD) assays and after the utilization of another pair of primers the second mutation, the c.3503_3504delTC deletion, was identified. Our findings illustrate that allelic dropout due to the presence of polymorphisms and/or of mutations that trigger the NMD pathway can cause difficulties in current molecular diagnosis tests.M.F. Coutinho is grantee from the FCT (SFRH/BPD/101965/2014).info:eu-repo/semantics/publishedVersio

Cuidados paliativos, conforto e espiritualidade

info:eu-repo/semantics/publishedVersio