Portuguese study of familial dilated cardiomyopathy: the FATIMA study

Dilated cardiomyopathy (DCM) is a myocardial disease, characterized by ventricular dilatation and impaired systolic function, that in more than 30% of cases has a familial or genetic origin. Given its age-dependent penetrance, DCM frequently manifests in adults by signs or symptoms of heart failure, arrhythmias or sudden death. The predominant mode of inheritance is autosomal dominant, and in these cases mutations are identified in genes coding for cytoskeletal, sarcomeric or nuclear envelope proteins. To date, most studies aimed at molecular diagnosis of DCM have been in selected families, or in larger groups of patients, but screening for mutations in a limited number of genes. Consequently, the epidemiology of mutations in familial DCM remains unknown. There is thus a need for multicenter studies, involving screening for a wide range of mutations in several families and in cases of idiopathic DCM. The present article describes the methodology of a multicenter study, aimed at clinical and molecular characterization of familial DCM patients in the Portuguese population.A miocardiopatia dilatada (MCD) é uma doença do músculo cardíaco caracterizada pela dilatação ventricular e compromisso da função sistólica, sendo possível identificar, numa percentagem superior a 30% dos casos, uma origem familiar ou genética. Dada a penetrância dependente da idade, manifesta-se muitas vezes em adultos por sinais ou sintomas de insuficiência cardíaca, arritmias ou morte súbita. O padrão autossómico dominante predomina, sendo possível identificar, nestes casos, mutações em genes de proteínas do citoesqueleto celular, sarcómero ou membrana nuclear. Até ao momento, a maioria dos trabalhos visando o diagnóstico molecular nos casos de MCD foi realizada em famílias seleccionadas, ou em grupos mais abrangentes de doentes, mas rastreando mutações num número restrito de genes. Consequentemente a epidemiologia das mutações nos casos familiares de MCD continua por esclarecer. É neste contexto que se coloca a necessidade de efectuar estudos multicêntricos, envolvendo uma pesquisa mutacional diversificada em várias familias e nos casos idiopáticos de MCD. O presente artigo descreve a metodologia de um estudo multicêntrico que tem como objectivo a caracterização clínica e molecular de casos familiares de MCD na população portuguesa

Evolution of the grass leaf by primordium extension and petiole-lamina remodeling

The sheathing leaf found in grasses and other monocots is an evolutionary innovation, yet its origin has been a subject of long-standing debate. Here, we revisit the problem in the light of developmental genetics and computational modeling. We show that the sheathing leaf likely arose through WOX-gene-dependent extension of a primordial zone straddling concentric domains around the shoot apex. Patterned growth within this zone, oriented by two polarity fields, accounts for wild-type, mutant and mosaic grass leaf development, whereas zone contraction and growth remodeling accounts for eudicot leaf development. In contrast to the prevailing view, our results suggest that the sheath derives from petiole, whereas the blade derives from the lamina of the eudicot leaf, consistent with homologies proposed in the 19th century

The practice of violence risk assessment in Spain

Background. Violence risk assessment is a key requirement in professional decision making involving prevention, intervention or reporting on human behavior. The use of structured tools for violence risk assessment has shown to improve the accuracy of assessments based exclusively on clinical judgment or expertise in psychiatric, correctional and legal settings. Objectives. This study presents results of the first survey about professional practices associated with tools for violence risk assessment in Spain. Materials and methods. The information was collected by administering an online-based survey that was distributed by e-mail to members of professional organizations around the country. Results. As in professional contexts worldwide, the Robert Hare’s psychopathy scales (Psychopathy Checklist-Revised and Psychopathy Checklist: Screening Version) and the Historical-Clinical-Risk Management-20 topped the list of the most used tools both by professional choice and institutional requirement. Conclusions. We provide novel data on the prevalence of use and the perceived utility of specific tools, as well as on other issues related to the professional practice of violence risk assessment in Spain, which can guide professional in the health care, correctional and forensic settings, as well as those responsible for decisions in institutions about choosing which tool to implement.Facultad de Ciencias Médica

The practice of violence risk assessment in Spain

Background. Violence risk assessment is a key requirement in professional decision making involving prevention, intervention or reporting on human behavior. The use of structured tools for violence risk assessment has shown to improve the accuracy of assessments based exclusively on clinical judgment or expertise in psychiatric, correctional and legal settings. Objectives. This study presents results of the first survey about professional practices associated with tools for violence risk assessment in Spain. Materials and methods. The information was collected by administering an online-based survey that was distributed by e-mail to members of professional organizations around the country. Results. As in professional contexts worldwide, the Robert Hare’s psychopathy scales (Psychopathy Checklist-Revised and Psychopathy Checklist: Screening Version) and the Historical-Clinical-Risk Management-20 topped the list of the most used tools both by professional choice and institutional requirement. Conclusions. We provide novel data on the prevalence of use and the perceived utility of specific tools, as well as on other issues related to the professional practice of violence risk assessment in Spain, which can guide professional in the health care, correctional and forensic settings, as well as those responsible for decisions in institutions about choosing which tool to implement.Facultad de Ciencias Médica

The practice of violence risk assessment in Spain

Background. Violence risk assessment is a key requirement in professional decision making involving prevention, intervention or reporting on human behavior. The use of structured tools for violence risk assessment has shown to improve the accuracy of assessments based exclusively on clinical judgment or expertise in psychiatric, correctional and legal settings. Objectives. This study presents results of the first survey about professional practices associated with tools for violence risk assessment in Spain. Materials and methods. The information was collected by administering an online-based survey that was distributed by e-mail to members of professional organizations around the country. Results. As in professional contexts worldwide, the Robert Hare’s psychopathy scales (Psychopathy Checklist-Revised and Psychopathy Checklist: Screening Version) and the Historical-Clinical-Risk Management-20 topped the list of the most used tools both by professional choice and institutional requirement. Conclusions. We provide novel data on the prevalence of use and the perceived utility of specific tools, as well as on other issues related to the professional practice of violence risk assessment in Spain, which can guide professional in the health care, correctional and forensic settings, as well as those responsible for decisions in institutions about choosing which tool to implement.Facultad de Ciencias Médica

Dynamic assessment of students with difficulties in learning and development based on portefolio

In this chapter we present how portfolio could be a very useful tool to improve learning and development in students in general and in students with special needs particularl

Portfolios as an Assessment Tool of Learning and Competences from Students with SEN.

The portfolios are systematic collections of work by students with guidance and support of the teachers and may serve as a basis to analyze the continuity learning process in terms of effort and performance improvement. In this work we adopt a definition of portfolios as a compendium of materials that document and demonstrate a person’s accomplishments and career readiness so this tool is a collection of work that are used to document, monitor and evaluate performances. In this sense “portfolios embody an organized, purposeful, longitudinal collection of student work that tells a story of the student’s efforts, progress, or achievement in a given area. They may also assess the achievement of program objectives” (Swigonsky, Ward, Mama, Rodgers, Belicose, 2006, p. 813). So these longitudinal characteristics of the portfolios bring the possibility to follow the process of learning and development, step by step with learning disabilities students

Use of diaper polymers as soil conditioner

The objective of this ongoing study is to evaluate the viability of recycling used diaper filling in agriculture, as a soil amendment. To achieve this goal, the effect of diaper filling on soil available water, crop water stress and production need to be studied, since diapers contain varying amounts of bleached cellulose fiber and other additives besides SAPs which influence the overall effect of diaper addition to the soil. In this particular study, the effect of application of diaper filling on an open air autumn lettuce is studied