O recreio no Jardim de Infância: espaço e tempo para construção de culturas da Infância

O recreio no jardim-de-infância é um dos poucos espaços que resta para que as crianças se encontrem e façam aquilo em que verdadeiramente são especialistas: brincar! Este deve ser um espaço e um tempo valorizados, pois é aí que este grupo constrói as culturas que o identificam e o distinguem como grupo geracional, distinto dos demais. Esta construção de culturas faz-se através das interações inerentes ao ato de brincar. Nesta sociedade globalizada, a competição e o sucesso académico fazem parte cada vez mais cedo da vida das crianças. Assim, é importante devolver-lhes estes espaços e tempos que lhes permitam brincar e jogar, uma vez que estas ações se assumem como indispensáveis para o seu bem-estar e para o desenvolvimento saudável das suas habilidades físicas, cognitivas, emocionais e sociais.Abstract The kindergarten playground is one of few remaining places where kids can find themselves and do what they are truly experts at: playing! This must be a valorized space and time because there is where this group creates the cultures that identify anddistinguishes itself as a generational group, apart from the rest. This culture building is made through play inherent interactions. In this globalized society competition and academic success are part of kid’s lives. That’s why it’s important to understand and give them back space-time that allows them to play, once these actions are indispensable for their well-being and the healthy development of their physical, cognitive, emotional and social skills

Doença de Fabry e o coração

Tese de doutoramento em MedicinaA doença de Fabry (DF) é uma causa de miocardiopatia hipertrófica (MCH), mas a sua prevalência na MCH não está esclarecida. O nosso rastreio enzimático e genético de DF em 150 doentes adultos com MCH da região Portuguesa de Guimarães revelou 25 casos de DF (16.6%) e a mutação GLA c.337T>C (p.F113L) em 21 deles. O nosso estudo genealógico por historiadores revelou uma árvore familiar com 12 gerações e um ancestral comum aos doentes p.F113L, demonstrando um efeito fundador de DF com 400 anos. O rastreio familiar revelou disseminação desta mutação por muitos países no mundo. A história natural dos fenótipos tardios de DF não é completamente conhecida. Nos nossos estudos, um protocolo diagnóstico foi realizado no momento basal em 120 doentes consecutivos para caraterização do fenótipo associado à mutação p.F113L e, subsequentemente, em 203 doentes (79 homens) (idade 46±18 anos) para caraterização da sua história natural. O envolvimento cardíaco teve o maior impacto prognóstico, incluindo hipertrofia ventricular esquerda (HVE) (40.8%), taquicardia ventricular não sustentada (TVNS) (12.5%), bloqueio auriculoventricular (AV) (18.3%) e bloqueio bifascicular (13.4%). Foi implantado pacemaker em 5.8%. Nos homens, a HVE e o realce tardio (RT) surgiram a partir dos 30 anos; a insuficiência cardíaca, a TVNS e as perturbações da condução cardíaca a partir dos 40 anos; e os bloqueios bifascicular e AV completo a partir dos 50 anos. Nas mulheres, as manifestações cardíacas ocorreram menos frequentemente e 1-2 décadas depois. A frequência e a gravidade das manifestações cardíacas aumentaram com a idade. As manifestações extracardíacas incluíram albuminuria aumentada (36.1%), lesões da substância branca cerebral (54.4%) e surdez neurossensorial (44.5%) e surgiram antes dos 30 anos em ambos os géneros na ausência de comorbilidades. Foram encontradas inclusões lisossómicas em podócitos de doentes jovens p.F113L com proteinuria, mas a doença renal crónica estadio ≥3 ocorreu em 7.6% (≈ população geral). Os eventos cerebrovasculares foram raros (3.3%). O nosso rastreio multicêntrico de 780 doentes adultos com MCH revelou uma prevalência de DF, ajustada para o efeito fundador, de 0.9%. O bloqueio bifascicular (OR 10.909, CI95% 2.377-50.059) e o RT inferolateral basal (OR 10.677, CI95% 3.633-31.380) foram os preditores mais fortes de DF na MCH. Na sua ausência, segundo o score ID FABRY-HCM, a DF é uma causa menos provável de MCH. Novas variantes GLA c.286A>G (p.M96V) e c.607G>T (p.E203X) foram associadas à DF clássica. Desde a nossa primeira descrição de não-compactação do ventrículo esquerdo (NCVE) num doente de Fabry, permanece por esclarecer se a NCVE é uma manifestação de DF. O nosso rastreio multicêntrico de DF em 78 doentes com NCVE não encontrou casos adicionais, argumentando contra esta hipótese.Fabry disease (FD) is a cause of hypertrophic cardiomyopathy (HCM), but its prevalence in HCM is not clearly established. Our enzymatic and genetic screening of FD in 150 adult patients with HCM from the Portuguese region of Guimarães found 25 Fabry cases (16.6%) and the GLA mutation c.337T>C (p.F113L) in 21 of them. Our genealogy study by historians revealed a 12-generation family tree with a common ancestor to p.F113L patients, demonstrating a founder effect of FD with 400 years. Family screening revealed that this mutation has been spread to many countries around the world. The natural history of late-onset phenotypes of FD is not completely known. In our studies, a diagnostic protocol was performed at baseline in 120 consecutive patients for characterization of the phenotype associated to the p.F113L mutation and, subsequently, in 203 patients (79 males) (age 46±18 years) for characterization of its natural history. Cardiac involvement carried the highest prognostic impact, including left ventricular hypertrophy (LVH) (40.8%), non-sustained ventricular tachycardia (NSVT) (12.5%), atrioventricular (AV) block (18.3%) and bifascicular block (13.4%). Pacemaker implantation occurred in 5.8%. In males, LVH and late gadolinium enhancement (LGE) arose over 30 years; heart failure, NSVT and cardiac conduction disorders over 40 years; and bifascicular block and complete AV block beyond 50 years of age. In females, cardiac manifestations occurred less commonly and 1-2 decades later. The frequency and severity of cardiac manifestations increased with age. Extracardiac manifestations included increased albuminuria (36.1%), brain white matter lesions (54.4%) and sensorineural deafness (44.5%) and arose before 30 years of age in both genders in the absence of comorbidities. Lysosomal inclusions were found on podocytes of young p.F113L patients with proteinuria, but chronic kidney disease stage ≥3 occurred in only 7.6% (≈ general population). Cerebrovascular events were rare (3.3%). Our multicentre FD screening in 780 adult patients with HCM revealed a FD prevalence, adjusted for the founder effect, of 0.9%. Bifascicular block (OR 10.909, CI95% 2.377-50.059) and basal inferolateral LGE (OR 10.677, CI95% 3.633-31.380) were the most powerful predictors of FD in HCM. In their absence, according to the score ID FABRY-HCM, FD is a less probable cause of HCM. Novel GLA variants c.286A>G (p.M96V) and c.607G>T (p.E203X) were shown to be associated with a FD classical phenotype. Since our first report of left ventricular noncompaction (LVNC) in a FD patient, it remains to be clarified whether LVNC is a manifestation of FD. Our multicentre FD screening in 78 patients diagnosed with LVNC found no additional cases, arguing against this hypothesis

Chegou a hora do recreio! O recreio: espaço de construção de culturas da infância

Dissertação de mestrado em Estudos da Criança (área de especialização em Associativismo e Animação Sócio-Cultural)Esta proposta de investigação tem como enfoque principal compreender como é que as crianças constroem as culturas identitárias da sua geração no espaço e tempo de recreio. Para tal foram tidas em conta as ações e interações que edificam com os seus pares, as brincadeiras que reinventam e promovem e o modo como se organizam. Para chegarmos a essa compreensão optamos por uma investigação de cariz etnográfica interpretativo e participativo. A recolha de dados foi realizada através da observação participante no tempo e espaço de recreio de um jardim-de-infância público. Os grupos de crianças são heterogéneos e com idades entre os 3 e os 6 anos de idade. Através das suas vozes e das suas ações foi mais fácil compreender as suas interpretações, intenções e culturas. Ainda, para dar voz às crianças, foi constituído um grupo focal. Deste grupo fizeram parte as 16 crianças de 5/6 anos de idade de ambas as salas. Nestes debates alargados as crianças partilharam e explanaram brincadeiras, jogos e descobertas realizadas, assim como conflitos que surgiram neste tempo e espaço de recreio, cenário desta investigação. Fizeram parte da investigação registos realizados em conselho de grupo semanal, onde as crianças expressaram o que mais gostavam e o que menos gostavam do recreio. Pudemos observar que as crianças inventam e reinventam brincadeiras, de acordo com as suas vivências e experiências sociais. Que ao espaço e materiais, nessas brincadeiras, podem ser atribuídos diferentes significados, conforme a necessidade para dar continuidade às mesmas ou para que se possam realizar. Compreendemos que as crianças constroem e seguem regras para brincar, mesmo quando aos olhos do adulto o caos parece instalado. Nesta investigação fica também a reflexão sobre a importância deste espaço na vida das crianças. Uma vida enclausurada em casa e na escola onde escasseiam momentos e companheiros de brincadeiras. Deste modo o recreio deve surgir como o espaço das e para as crianças, onde o adulto deve ser o menos invasivo possível de modo a facilitar a construção das culturas da infância.This research proposal has its main focus on understanding how children build their generational cultural identities in the playground. For this, actions and interactions among their peers were taken into account and also the way they organize themselves in the games they reinvent and promote. In order to do this, we develop an ethnographic research with an interpretative and participatory focus. All the data was collected during their recess breaks at a public preschool. The group had boys and girls ranging from 3 to 6 years of age. The research data was done by direct observation involving all the 38 children. Through their actions and voices it was easier to understand their interpretations, intentions and cultures. In order to consider children´s voices and opinions, we developed a focus group that was organized with 16 children from 5 and 6 years old, from both classrooms. These debates involved children´s discussions about things that occurred at the playground, by sharing and explaining games and the outcomes, as well as the conflicts which occurred during this time and space. We also used data from the weekly group meeting, which allowed us to acknowledge what children liked most and least in the playground. We can conclude that children invent and reinvent games according to their backgrounds and social experiences. They give different meanings to the space and materials in these games, considering the way how they were developed. We can also conclude that children build and follow rules to play, even when it seems like chaos in an adult point of view. In this research, we also want to highlight the importance of this space in children’s lives. An institutionalized life, confined at home, on one hands, and on the other hand, at school, don’t allow children to play with their peers. As such, the recess emerges as a space for and owned by children, where the adult has to play the role of less invasive in order to allow that children can be more active in the development of their cultures and also in the development of their identities

Fabry disease therapy: State-of-the-art and current challenges

Fabry disease (FD) is a lysosomal storage disorder caused by mutations of the GLA gene that lead to a deficiency of the enzymatic activity of α-galactosidase A. Available therapies for FD include enzyme replacement therapy (ERT) (agalsidase alfa and agalsidase beta) and the chaperone migalastat. Despite the large body of literature published about ERT over the years, many issues remain unresolved, such as the optimal dose, the best timing to start therapy, and the clinical impact of anti-drug antibodies. Migalastat was recently approved for FD patients with amenable GLA mutations; however, recent studies have raised concerns that “in vitro” amenability may not always reflect “in vivo” amenability, and some findings on real-life studies have contrasted with the results of the pivotal clinical trials. Moreover, both FD specific therapies present limitations, and the attempt to correct the enzymatic deficiency, either by enzyme exogenous administration or enzyme stabilization with a chaperone, has not shown to be able to fully revert FD pathology and clinical manifestations. Therefore, several new therapies are under research, including new forms of ERT, substrate reduction therapy, mRNA therapy, and gene therapy. In this review, we provide an overview of the state-of-the-art on the currently approved and emerging new therapies for adult patients with FD

INFECÇÃO CUTÂNEA POR MYCOBACTERIUM HAEMOPHILUM EM DOENTE IMUNODEPRIMIDO

Mycobacterium haemophilum skin infection is a rare disease with a difficult diagnosis and a challenging treatment. We report the case of a patient on chronic corticotherapy for myositis with nodules on the lower limbs in which Mycobacterium haemophilum was identified by PCR technique. This case emphasizes the need for a high index of suspicion for the diagnosis. In fact, this infection can currently be underdiagnosed due to the special requirements for culture. It should be considered in patients with chronic granulomatous processes in combination with negative my- cobacteriological examination.KEYWORDS – Mycobacterium haemophilum; Immunocompromised host; Mycobacterium infections; Skin diseases, bacterial.A infecção cutânea por Mycobacterium haemophilum é uma patologia rara, de difícil diagnóstico e cujo tratamento constitui um desafio. Descreve-se o caso de um doente sob corticoterapia crónica no contexto de miosite com nódulos dos membros inferiores, nos quais foi detectada uma estirpe de Mycobacterium haemophilum pela téc- nica de PCR. Este caso enfatiza a necessidade de um alto nível de suspeição clínica para o diagnóstico. De facto, esta infecção pode actualmente estar sub-diagnosticada devido aos requisitos especiais de cultura. Deve ser considerada em doentes com processos granulomatosos crónicos em associação a exame cultural persistentemente negativo.PALAVRAS-CHAVE – Mycobacterium haemophilum; Micobactéria atípica; Imunossupressão

Impacto de um programa de reabilitação na gestão urinária do doente acometido por acidente vascular cerebral

Objective: to assess the effect of a Nursing Rehabilitation program on the urinary incontinence management of women after a CVA. Method: quantitative, quasi-experimental, and longitudinal study conducted in a convalescence unit in the Viana do Castelo district, Portugal, between September 2018 and March 2019. The sample included women (n=30) aged between 45 and 90, experiencing urinary incontinence after a CVA, assigned to two groups: experimental group (n=15) and control group (n=15). The functional rehabilitation program was applied to the experimental group for 4 weeks. The program comprises behavioral changes and an exercise plan to strengthen pelvic floor muscles, and the impact of urinary incontinence was assessed before and after the intervention. Results: a statistically significant correlation was found between the level of functional disability and the impact of urinary incontinence (r=-0.499; p=0.005). Hence, the level of functional disability influences the impact of urinary incontinence on quality of life. The functional rehabilitation program implemented in the experimental group obtained positive results and decreased the frequency (t=6.985, p=0.000) and amount (Z=-2.762, p=0.006) of urine loss. Conclusion: the functional rehabilitation program positively impacted and decreased the frequency and amount of urine loss.info:eu-repo/semantics/publishedVersio

Cerium uptake, translocation and toxicity in the salt marsh halophyte Halimione portulacoides (L.), Aellen

Halimione portulacoides plants were exposed to dissolved cerium (Ce) in a hydroponic medium for five days. Ce accumulation in plants followed the metal's increase in the medium although with a very low translocation factor (TF < 0.01) between roots and shoots. Ce median concentrations in roots were 586, 988 and 1103 μg/g (dry wt.), while in shoots the median values reached 1.9, 3.5 and 10.0 μg/g (dry wt.), for plants exposed to 300, 600 and 1200 μg/L of Ce, respectively. No significant differences occurred in the length of roots and shoots among treatment groups, albeit plants exposed to the highest Ce concentration showed a clear loss of turgor pressure on the fifth day. An increase of hydrogen peroxide and malondialdehyde levels were observed in the plant shoots at 1200 μg/L of Ce. The highest concentration also triggered an answer by the shoots' antioxidant enzymes with a decrease in the activity of superoxide dismutase and an increase in peroxidase. However, no significant change in catalase activity was observed, compared to the control group, which may indicate that peroxidase played a more crucial role against the oxidative stress than catalase. Combined results indicate that H. portulacoides was actively responding to a toxic effect imposed by this higher Ce concentration. Nevertheless, changes in normal environmental conditions, may increase the bioavailability of Ce, while in areas where acid mine drainage may occur, the highest Ce concentration tested in this study may be largely exceeded, placing the sustainability of halophytes and estuarine marshes at risk

Quantitative and qualitative analysis of portuguese press coverage regarding cosmetic products: a pilot test for a case study

A Sociedade Portuguesa de Ciências Cosmetológicas e a Step Exhibitions têm o orgulho de anunciar um fórum para a comunicação, a colaboração, e a inovação para o Mercado Português de Cosméticos e indústrias relacionadas. O Cosmetinnov reúne os principais decisores e inovadores de todo o setor da cosmética. Durante os dois dias do evento terá a oportunidade de fazer novos contactos e realizar negócios com centenas de profissionais que procuram encontrar soluções, obter respostas e adquirir produtos e serviços fundamentais ao desenvolvimento e fabrico dos seus produtos cosméticos. Ao atrair desde pequenas e médias empresas até grandes empresas internacionais, o Cosmetinnov 2020 oferece uma oportunidade inigualável de colocar a sua empresa em contacto com pessoas chave para o seu negócio.The Sociedade Portuguesa Ciencias Cosmetológicas and Step Exhibitions are proud to announce a forum for communication and collaboration, and innovation for the Portuguese Cosmetics Market and beyond. Cosmetinnov brings together the key decision makers and innovators from across the cosmetic sector. During the two-days event you can meet, network and do business with hundreds of professionals looking to find solutions, obtain answers, and buy the products and services they need to fulfil their cosmetics development and manufacturing requirements. Ranging from SMEs through to major international corporations, Cosmetinnov delivers an unrivalled opportunity to put your business in front of the people you need to meet

Gait classification of patients with Fabry's disease based on normalized gait features obtained using multiple regression models

Diagnosis of Fabry disease (FD) remains a challenge mostly due to its rare occurrence and phenotipical variability, with considerable delay between onset and clinical diagnosis. It is then of extreme importance to explore biomarkers capable of assisting the earlier diagnosis of FD. There is growing evidence supporting the use of gait assessment in the diagnosis and management of several neurological diseases. In fact, gait abnormalities have previously been observed in FD, justifying further investigation. The aim of this study is to evaluate the effectiveness of different machine learning strategies when distinguishing patients with FD from healthy controls based on normalized gait features. Gait features of an individual are affected by physical characteristics including age, height, weight, and gender, as well as walking speed or stride length. Therefore, in order to reduce bias due to inter-subject variations a multiple regression (MR) normalization approach for gait data was performed. Four different machine learning strategies - Support Vector Machines (SVM), Random Forest (RF), Multiple Layer Perceptrons (MLPs), and Deep Belief Networks (DBNs) - were employed on raw and normalized gait data. Wearable sensors positioned on both feet were used to acquire the gait data from 36 patients with FD and 34 healthy subjects. Gait normalization using MR revealed significant differences in percentage of stance phase spent in foot flat and pushing (p < 0.05), with FD presenting lower percentages in foot flat and higher in pushing. No significant differences were observed before gait normalization. Support Vector Machine was the superior classifier achieving an FD classification accuracy of 78.21% after gait normalization, compared to 71.96% using raw gait data. Gait normalization improved the performance of all classifiers. To the best of our knowledge, this is the first study on gait classification that includes patients with FD, and our results support the use of gait assessment on the clinical assessment of FD.This work was partially supported by the projects NORTE-01-0145- FEDER- 000026 (DeM-Deus Ex Machina) financed by NORTE2020 and FEDER, and the Pluriannual Funding Programs of the research centres CMAT and Algoritm