Mitochondrial Disorders: Mitochondrial DNA Depletion Syndrome

As citopatias mitocondriais constituem um importante grupo de doenças metabólicas de expressão clínica heterogénea, para as quais não existe uma terapia eficaz. A maioria destas doenças é causada por uma disfunção ao nível da fosforilação oxidativa (OXPHOS), originando consequentemente uma deficiente produção de energia. O correto funcionamento da OXPHOS resulta de uma interação coordenada entre o genoma nuclear e mitocondrial. Assim, as doenças mitocondriais podem ser causadas por defeitos moleculares no genoma mitocondrial, no nuclear, ou em ambos, originando as doenças da comunicação intergenómica, que resultam na perda ou na instabilidade do DNA mitocondrial (mtDNA), e podem causar quer deleções múltiplas, quer depleção do genoma mitocondrial. A síndrome da depleção do mtDNA constitui um grupo de doenças raras, autossómicas recessivas, que se manifestam maioritariamente após o nascimento, causando a morte de muitos doentes durante a infância ou início da adolescência devido a uma redução acentuada do número de cópias do mtDNA. Trata-se de uma síndrome fenotipicamente heterogénea, apresentando-se sob três apresentações clínicas: hepatocerebral, miopática e encefalomiopática. A caracterização molecular destes doentes é importante não só para permitir a realização de aconselhamento genético e diagnóstico pré-natal adequados, mas também para melhorar a compreensão da fisiopatologia da doença e as opções terapêuticas.Mitochondrial dysfunction accounts for an important and heterogeneous group of inherited metabolic disorders with hitherto no effective therapeutic options. Most of the known mitochondrial disorders are caused primarily by a dysfunctional oxidative phosphorylation and consequently a deficient energy production. This system depends on the coordinated expression of both nuclear and mitochondrial genomes. Thus, mitochondrial diseases can be caused by genetic defects in either the mitochondrial or the nuclear genome, or in the cross-talk between both. This impaired cross-talk gives rise to so-called nuclear-mitochondrial intergenomic communication disorders, which result in loss or instability of the mitochondrial genome and, in turn, impaired maintenance of qualitative and quantitative mtDNA integrity. The mitochondrial DNA depletion syndrome (MDS) is a clinically heterogeneous group of disorders with an autosomal recessive pattern of transmission that have onset in infancy or early childhood and are characterized by a reduced number of copies of mtDNA in affected tissues and organs. The MDS can be divided into three clinical presentations: hepatocerebral, myopathic and encephalomyopathic. Identifying the causative genes is important not only to allow adequate antenatal options, family planning and prenatal diagnosis, but also to improve understanding of the disease pathophysiology and, therefore, improve therapeutic options

Emotions, communicational process and inclusion of people with disabilities in the work context

The general objective of this research focuses on understanding how the labor market integrates people with disabilities (PwD), understanding their emotions and how they manage them throughout the work day, and knowing how communication is processed in theworkplace. The following specific objectives were then defined: to know the degree of awareness that disabled workers have about their emotions in their daily interactions in the workplace,and to analyze the communicative interactions of PwD in the work environment. A mixed methodology was chosen, using qualitative and quantitative research. The qualitative methodology used semi-structured interviews, and the quantitative methodology used a questionnaire. The sample was made up of 50 disabled workers and314 co-workers of the same (n=314), employees of the Auchan Portugal Group. The results showed that: of the four dimensions under study (General Perception of Hiring, Emotional Intelligence, Interpersonal Communicationand Integration/Insertion in the workplace) the great majority of PwD co-workers agreedor totally agreed with the items of the four dimensions, which suggests apositive score with the themes under study, the PwDare able to identify the emotions that most characterize the day-to-day at work, but most disguise the discomfort felt and do not clearly communicate to the other what emotion they felt, most PwDcommunicate to the other the behavior that caused them discomfort, PwDdo not consider the communication channels confusing, most PwDfeel integrated in the company and state that no specific adaptation has been made,most of the interviewees suggest a greater sensitivity on the part of the employer and work adapted to the person and his/her disability.info:eu-repo/semantics/publishedVersio

Assessing the Importance of Work for People with Disabilities at Auchan, Portugal

The inclusion of People with Disabilities (PwD's) in the labor market is a challenge and a great opportunity for companies. This inclusion process has the power to generate a great social impact in the life of PwD since they can be paid and can also play an important role that makes them feel proud and useful to society. However, this community faces many difficulties both in their inclusion and during their day-to-day work. This paper, therefore, focuses on exploring and understanding how organizations welcome these workers, what emotions they feel and how they manage them, and how well communication takes place in this context. A mixed methodology was used, with recourse to qualitative and quantitative research. Fifty disabled workers and 314 of their co-workers, employees of the Auchan Portugal Group, participated in the study. The results showed that PwD's recognize their emotions when interacting with their co-workers, but most of them disguise themselves when they feel discomfort. The feeling/emotion that mostly characterizes the daily professional life of these people is pride, which refers to the importance that work plays in their daily lives. As for organizational communication, PwD's consider it to be accessible. It was also possible to notice that although most PwD feel integrated, they suggest greater sensitivity from the employer, adapted work, and more accessibility in the workplace.info:eu-repo/semantics/publishedVersio

The work of people with disabilities in the perception of colleagues and managers

The main objective of this study was to explore the work of disabled people (PwD) in the perception of colleagues and managers, assessing four dimensions: General Perception of Hiring; Emotional Intelligence; Interpersonal Communication; and Inclusion in the workplace. This study used a quantitative methodology, with a closed answer questionnaire applied via Googleforms. The sample was made up of 314 PwD co-workers, including supervisors (n=314), employees of the Auchan Portugal Group. Data analysis was performed through descriptive and inferential statistics, using SPSS-24.0 software. The results were the following: the vast majority of participants considered that hiring PwD contributes to the social responsibility of the company (92.7%), although a small percentage considered that PwD have more difficulty in understanding a task (30%) and lower productivity (23.6%) [General Perception of Hiring]; most participants are sensitive to the emotions and feelings of PwD (89.2%) [Emotional Intelligence]; part of the participants did not agree or disagree that living with PwD improves the climate of the organization (42%); about half of the co-workers disagreed that PwD do not adopt inappropriate behavior in the organization (51%) [Interpersonal Communication]; the majority considered that PwD are well integrated into the organizational environment (77.1%), were well accepted by all (71.7%) and agree with the legislation that requires companies with 75 or more workers to hire a PwD (82.2%) [Inclusion in the workplace].info:eu-repo/semantics/publishedVersio

A BNC-Formação e a Formação Continuada de professores

In a study on recent teacher formative policies, we highlight the new Curricular Guidelines for Initial Formation of Basic Education Teachers, which establish the Common National Base for Initial Education of Basic Education Teachers (BNC-Education), recently approved on December 19, through Ordinance No. 2,167, which has been disfiguring the teacher formation that has been historically defended. In view of this note, we aim to propose a reflection on the new BNC-Education and its possible impacts on the continuing education of teachers. We carried out a qualitative study and, through a bibliographical research and documentary analysis, we structured the present reflection. Our analysis showed that the continuing education of Basic Education teachers has been negatively impacted by the new resolution, representing setbacks for education in the theoretical-scientific and practical aspects, and also with gains for the educational market assumptions.En un estudio sobre las recientes políticas de formación de profesores, destacamos las nuevas Directrices Curriculares para Formación Inicial de Profesores de Educación Básica, que instituyen la Base Nacional Común para la Formación Inicial de Profesores de Educación Básica (BNC-Formación), recientemente homologada, el 19 de diciembre, por medio de la Orden n° 2.167, que viene descaracterizando la formación docente que se viene defendiendo históricamente. Frente a este apuente, esta nota,tenems como objetivo proponer una reflexión sobre la nueva BNC-Formación y sus posibles impactos en la formación continua de profesores. Realizamos un estudio de naturaliza cualitativa y, a través de una investigación bibliográfica y análisis documental, estructuramos la presente reflexión. Nuestros análisis mostraron que la educación continua de los docentes de Educación Básica se ha visto afectada negativamente por la nueva resolución, que representa contratiempos para la capacitación en los aspectos teórico-científicos y prácticos, y también con ganancias para los presupuestos del mercado educativo.Num estudo sobre as recentes políticas de formação de professores, destacamos as novas Diretrizes Curriculares para Formação Inicial de Professores da Educação Básica, que instituem a Base Nacional Comum para a Formação Inicial de Professores da Educação Básica (BNC-Formação), recentemente homologada, em 19 de dezembro, por meio da Portaria nº 2.167, a qual vem descaracterizando a formação docente que vem sendo defendida historicamente. Diante desse apontamento, temos como objetivo propor uma reflexão sobre a nova BNC-Formação e seus possíveis impactos na formação continuada de professores. Realizamos um estudo de natureza qualitativa e, por meio de uma pesquisa bibliográfica e análise documental, estruturamos a presente reflexão. Nossas análises evidenciaram que a formação continuada de professores da Educação Básica tem sido negativamente impactada pela nova resolução, representando retrocessos para a formação nos aspectos teóricos-científicos e práticos e, ainda, com ganhos para os pressupostos do mercado educacional

Nuclear-Mitochondrial Intergenomic Communication Disorders

The focus of this chapter is to review the clinical and molecular etiologies of nuclear defects involved in mtDNA stability and in mitochondrial protein synthesis. The overview done here will hopefully provide insights towards best diagnostic strategies of mitochondrial cross–talk disorders, being useful for clinicians when facing similar cases. Additionally we will present a diagnostic algorithm for these diseases based on our knowledge

Emotional Intelligence, Interpersonal Communication and Integration of People With Disabilities Inserted in the Labor Market

The main objective of this doctoral research is to understand how the labour market integrates the people with disabilities (PwD's), to understand what emotions they feel and how they generate them throughout the working day, and also to know how communication is processed in the workplace. In this study, the mixed methodology was chosen, using qualitative and quantitative research. In the qualitative methodology, the semi-structured interview was used and in the quantitative methodology, the questionnaire was used. The sample consisted of 50 workers with disabilities and 314co-workers of the same(n=314), employees of the Auchan Portugal Group. Through the results obtained, the PwD's recognize their emotions when interacting with their co-workers, however, most disguise the discomfort felt, not communicating clearly what emotions they felt. Most disabled workers have a high degree of awareness of the emotions experienced in the workplace but are reluctant to communicate these emotions to co-workers. This prevents colleagues from understanding what PwD is feeling and is an obstacle to clear communication.info:eu-repo/semantics/publishedVersio

Emotional Intelligence Assessment, Interpersonal Communication and Integration of People With Disabilities in the Portuguese Labour Market

This research aims to evaluate emotional intelligence, interpersonal communication and the integration of PwD's in the labor market. In this sense, and given the difficulties experienced by these people during the process of labor inclusion, we have tried to: explore and understand the emotions felt by these workers during their working hours and how they manage them; how communication is processed in this context; and also to verify to what extent the Convention on the Rights of Persons with Disabilities has improved the process of inclusion. The mixed methodology was used, using qualitative and quantitative research. Fifty workers with disabilities and 314 work colleagues of the Auchan Portugal Group participated in the study. The results showed that the PwD's recognize their emotions when interacting with co-workers, however most disguise them when they feel discomfort, ending up not having a clear communication at the organizational level. Moreover, it was found that, although most PwD's feel integrated, it suggests a greater sensitivity of the employer, adapted work and more accessibility in the workplace.info:eu-repo/semantics/publishedVersio

Metabolic Diseases: a differential diagnosis of primary progressive multiple sclerosis

Objectives: The overall aim of our research project is to develop a Next Generation Sequencing strategy to identify metabolic disorders in 104 patients with a presumptive diagnosis of primary progressive MS.We would like to thank to MERCK, SA and NORTE2020 (NORTE-01-0246-FEDER-000014) for funding this Project.N/

Caracterização molecular do gene TPO em crianças Portuguesas com hipotiroidismo congénito causado por disormonogénese

Congenital hypothyroidism (CH) affects about 1:4000 infants and is considered one of the main causes of preventable mental retardation in children. Universal screening of CH performed through the Portuguese National Neonatal Screening Programme, implemented in Portugal in 1985, has resulted in normal development of attained children. Birth defects of the thyroid can be divided into several groups that represent either changes in the development of the gland or the consequences observed in the deficient synthesis of thyroid hormones. The defects of hormone synthesis caused by dyshor - monogenesis occur in only 10% to 15% of cases of HC. Defects in the thyroid peroxidase (TPO) gene are reported to be one of the most frequent causes of CH due to dyshormonogenesis. The aim is to review the mutational spectrum of the TPO gene in the portuguese population through the molecular investigation of 69 patients with permanent CH due to dys - hormonogenesis. To complement previous results, published in 2005, this work describes the molecular characterization of a further fourteen children with CH and the methodology applied. Extensive in-silico analysis was carried out for the newly identified sequence changes as well as the formerly published putative splicing variant. The sequence variations identified in the TPO gene comprise ten distinct mutations and 29 polymorphisms, enabling the determination of the molecular etiology of CH in fifteen patients. In conclusion, it was possible to obtain a differential diagnosis in twelve fami - lies with CH, using a non-invasive procedure and without interruption of medication. Identification of these and other mutations in the TPO gene can therefore contribute considerably towards diagnosis, a precise genetic counselling, adequate monitoring in future pregnancies as well as putative personalized therapies