990 resultados para STEROID 21-HYDROXYLASE DEFICIENCY


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Dissertação apresentada ao Instituto Superior de Contabilidade e Administração do Porto (ISCAP) para a obtenção do Grau de Mestre em Auditoria Docente orientador: Mestre Domingos da Silva Duarte

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O conceito de poesia é uma forma de arte e traduz-se como um espelho do pensamento do homem realizado na palavra oral e escrita. A poesia poderá ensinar o homem no estudo da palavra, através do seu significado nos valores denotativo e/ou conotativo. A aplicação destes conceitos faz sentido, a partir da ideia de que a palavra no contexto da poesia pode produzir emoções e sensações nas pessoas a quem ela é transmitida. A poesia tem funções multissensoriais que podem definir o input linguístico como forma de desenvolver a linguagem. Vários são os estudos que apontam para as principais competências deficitárias nos indivíduos com Trissomia 21, mas poucas são as investigações que se debruçam sobre a influência da poesia nas várias competências linguísticas. Uma perceção mais ampla e visionária da Arte na voz da poesia pela parte da escola, professores e, em particular, professores de Educação Especial permitirá adotar estratégias de intervenção inovadoras. Pretende este estudo investigar e analisar a forma como a poesia pode influenciar o desenvolvimento da linguagem oral numa aluna com Trissomia 21. Neste projeto, a partir da identificação do caso-problema e da constatação da ausência da poesia no currículo da aluna, procurou-se intervir, no sentido de melhorar as suas competências linguísticas, utilizando para tanto a poesia. A implementação do projeto aconteceu ao longo de seis meses durante quinze sessões de intervenção individuais. Os resultados do projeto mostram que, em todas as competências linguísticas, houve um processo evolutivo, sendo particularmente significativo o desenvolvimento da competência fonológica, aumento de vocabulário e uma maior noção da palavra em contexto. Estes dados levam-nos a crer que a utilização da poesia poderá, também, constituir uma forma de promover a socialização e a autonomia, revelando os efeitos colaterais que poderão decorrer deste tipo de intervenção. - Abstract The concept of poetry is a form of art, showing the man's thought held in the spoken and written word. Poetry can teach man in the study of the word, its meaning through denotative and/or connotative values. The application of these concepts makes sense, from the idea that the word in the context of poetry can stir emotions and feelings in the people to whom it is transmitted. Poetry has multisensory functions that can set the linguistic input as a way to develop language at phonological, lexical, semantics, pragmatic and morfosyntactic skills. There are several studies that point out to the key skills deficit in individuals with Trisomy 21, but there are few investigations that focus on the influence of poetry in various language skills. A broader perception and vision of poetry as art given by school, and teachers, and, particularly teachers of Special Education will allow a more effective intervention strategies. This study aims to investigate and analyze how poetry can influence the development of oral language in a student with Trisomy 21. In this project, we tried to intervene, improving the language skills of the student, using poetry from the identification case-problem and confirmation of the absence of poetry in her curriculum. The implementation of the project took place throughout six months for fifteen individual intervention sessions. The project results show that, in all language skills, there was a progressive process, being particularly significant the development of the phonological skills, increased vocabulary and a greater sense of the word into context. These data lead us to believe that the use of poetry can also be a way to promote socialization and autonomy, revealing the side effects that may result from this type of intervention.

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O objectivo deste estudo é determinar as propriedades psicométricas da versão portuguesa do Stroke Aphasic Depression Questionnaire-21 (SADQ-21). Envolveu 120 sujeitos, 33 dos quais com afasia. Os resultados demonstraram que o SADQ-21 revela uma consistência interna muito elevada (α=0,87). A validade de construção identificou cinco domínios. A variância total explicada pelos factores foi elevada (65,85%). A correlação entre a medida de ouro e o SADQ-21 é estatisticamente significativa (p<0,05). Os indivíduos com afasia estão significativamente mais deprimidos que os sem afasia (p=0,0001). Conclui-se que o SADQ-21 é um instrumento adequado para a avaliação da sintomatologia depressiva em pessoas com afasia.

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Dissertação apresentada à Escola Superior de Educação de Lisboa para a obtenção do Grau de Mestre em Ciências da Educação - Especialidade Educação especial

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A poesia, enquanto Arte, é um conceito ligado à cognição e emoção (Ricoeur, 1975). Segundo a teoria cognitivista, proporciona, também, conhecimento. A poesia espelha o pensamento realizado na palavra oral e escrita. A aplicação destes conceitos surge da ideia de que a palavra na poesia pode produzir emoções e sensações nas pessoas a quem ela é transmitida. A poesia tem funções multissensoriais que definem o input linguístico, desenvolvendo a linguagem ao nível das diferentes competências linguísticas. Existem vários estudos que envolvem pessoas com Trissomia 21, centrados na aprendizagem da leitura, escrita e seus domínios linguísticos. No entanto, é escassa a apresentação de casos que demonstrem a influência da poesia no desenvolvimento da linguagem oral, especialmente o seu uso nas práticas pedagógicas para o desenvolvimento linguístico-cognitivo em pessoas portadoras desse Síndrome. Este estudo pretende mostrar a importância do uso da poesia no desenvolvimento da linguagem oral de uma aluna com Trissomia 21, tendo como base um projeto de investigação-ação. A partir da identificação do caso-problema, a intervenção pedagógica procurou melhorar as competências linguísticas da aluna através do uso da poesia. Os resultados mostram evolução em todos os parâmetros linguísticos considerados. Estes dados levam-nos a crer que a utilização da poesia pode, também, constituir uma forma de promover a socialização e a autonomia, revelando os efeitos colaterais que podem decorrer deste tipo de intervenção.

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Pós-graduação em Odontologia - FOAR

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Boletim elaborado pela Assessoria de Comunicação e Imprensa da Reitoria da UNESP

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Backgroung - Bariatric surgery is indicated as the most effective treatment for morbid obesity; the Roux-en-Y gastric bypass (RYGB) is considered the procedure of choice. However, nutritional deficiency may occur in the postoperative period as a result of reduced gastric capacity and change in nutrients absorption in the gastrointestinal tract. The prescription of vitamin and mineral supplementation is a common practice after RYGB; however, it may not be sufficient to prevent micronutrient deficiencies. The aim of this study was to quantify the micronutrient intake in patients undergoing RYGB and verify if the intake of supplementation would be enough to prevent nutritional deficiencies. Methods - The study was conducted on 60 patients submitted to RYGB. Anthropometric, analytical, and nutritional intake data were assessed preoperatively and 1 and 2 years postoperatively. The dietary intake was assessed using 24-h food recall; the values of micronutrients evaluated (vitamin B12, folic acid, iron, and calcium) were compared to the dietary reference intakes (DRI). Results - There were significant differences (p < 0.05) between excess weight loss at the first and second year (69.9 ± 15.3 vs 9.6 ± 62.9 %). In the first and second year after surgery, 93.3 and 94.1 % of the patients, respectively, took the supplements as prescribed. Micronutrient deficiencies were detected in the three evaluation periods. At the first year, there was a significant reduction (p < 0.05) of B12, folic acid, and iron intake. Conclusions - Despite taking vitamin and mineral supplementation, micronutrient deficiencies are common after RYGB. In the second year after surgery, micronutrient intake remains below the DRI.

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Background: The aim was to evaluate the presence of metabolic bone disease (MBD) in patients with Crohn’s disease (CD) and to identify potential etiologic factors. Methods: The case–control study included 99 patients with CD and 56 controls with a similar age and gender distribution. Both groups had dual-energy x-ray absorptionmetry and a nutritional evaluation. Single nucleotide polymorphisms at the IL1, TNF-a, LTa, and IL-6 genes were analyzed in patients only. Statistical analysis was performed using SPSS software. Results: The prevalence of MBD was significantly higher in patients (P ¼ 0.006). CD patients with osteoporosis were older (P < 0.005), small bowel involvement and surgical resections were more frequent (P < 0.005), they more often exhibited a penetrating or stricturing phenotype (P < 0.05), duration of disease over 15 years (P < 0.005), and body mass index (BMI) under 18.5 kg/m2 (P < 0.01) were more often found. No association was found with steroid use. Patients with a Z-score < 2.0 more frequently had chronic active disease (P < 0.05). With regard to diet, low vitamin K intake was more frequent (P ¼ 0.03) and intake of total, monounsaturated, and polyunsaturated fat was higher in patients with Z-score < 2.0 (P < 0.05). With respect to genetics, carriage of the polymorphic allele for LTa252 A/G was associated with a higher risk of osteoporosis (P ¼ 0.02). Regression analysis showed that age over 40 years, chronic active disease, and previous colonic resections were independently associated with the risk of developing MBD. Conclusions: The prevalence of MBD was significantly higher in CD patients. Besides the usual risk factors, we observed that factors related to chronic active and long-lasting disease increased the risk of MBD.

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Revista elaborada pela Assessoria de Comunicação e Imprensa da Reitoria da UNESP

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Dissertação apresentada à Escola Superior de Educação de Lisboa para obtenção de grau de mestre em Ciências da Educação - Especialidade Educação Especial

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OBJECTIVE: To diagnose iron deficiency anemia in children. METHODS: The study was conducted with a sample of 301 children aged six to 30 months attending public daycare centers in the city of Recife, Northeast Brazil, in 2004. The diagnoses of anemia were based on a combination of different hematological and biochemical parameters: hemoglobin, mean corpuscular volume, ferritin, C-reactive protein, transferrin saturation and transferrin receptor. The chi-square test and ANOVA were used in the statistical analysis. RESULTS: Of all children studied, 92.4% had anemia (Hb <110 g/L) and 28.9% had moderate/severe anemia (Hb <90 g/L). Lower levels of hemoglobin were found in children aged 6-17 months. Iron deficiency was found in 51.5% of children using ferritin (<12 μg/L) as parameter. Taking into consideration the combination of hemoglobin level, ferritin and transferrin receptor, 58.1% had anemia with iron deficiency, 34.2% had anemia without iron deficiency and 2.3% had iron deficiency without anemia. Mean ferritin concentration was significantly higher in children with high C-reactive protein when compared with those with normal levels (22.1 vs. 14.8 µg/L). CONCLUSIONS: The use of several biochemical and hematological parameters allowed to diagnosing iron deficiency anemia in two thirds of children, suggesting a need to identify other determinants of anemia without iron deficiency.

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The most common causes of anemia are micronutrient deficiencies, but other factors may influence namely inflammation, parasitic infections and inherited disorders. One strategy to combat micronutrient deficiencies is supplementation, yet, in zones with high prevalence of Schistosomiasis or Soil Transmitted Helminthes (STH), supplementation could be not sufficient. The aim of this study was to evaluate the effects of deworming, on hemoglobin concentration, in children from 2 to 15 years, from Bengo.

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Duchenne muscular dystrophy (DMD) is a severe, progressive disease first described by Meryon in 1852 and later by Guillaume Duchene. It is the most common and severe form of childhood muscular dystrophy, affecting 1 in 3500 live male births. Is caused by an X—linked recessive genetic disorder resulting in a deficiency of the dystrophin protein, responsible for linking contractile proteins to the sarcolemma. Diagnosis is not always easy and the first symptoms are often related to weakness and difficulty or delay in acquiring the ability to perform simple activities. Progressive weakness leads to the use of compensatory strategies in order to maintain the ability to walk and perform other activities. Respiratory muscles are also affected and the complications resulting from its impairments are frequently the cause of early death of these patients. The advances in DMD management has increased life expectancy of these children with the need for adequate care in adulthood. DMD manifestations include muscle weakness, contractures, respiratory and cardiac complications. Some authors also refer that one-third of patients have difficulties with learning and delayed global development because the gene that encodes dystrophyn expresses various dystrophin isoforms that are found in Schwann and Purkinje celis in the brain. Body functions and structure impairments like muscle weakness, contractures and reduced range of motion lead to limitations in activities, i.e., impairments affect the performance of tasks by the individual. In a physiotherapist’s point of view analysing these limitations is mandatory because physiotherapy’s final purpose is to restore or preserve the ability to perform ADL and to improve quality of life.

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Dissertação apresentada na Faculdade de Ciências e Tecnologia da Universidade Nova de Lisboa para obtenção do grau de Mestre em Ordenamento do Território e Planeamento Ambiental