EDUCAÇÃO FÍSICA INCLUSIVA: ATITUDES DOS DOCENTES.

The Physical Education (PE) is perceived as a prime area for Inclusion of Students with Special Educational Needs (SEN). The intention of this study was to describe the inclusive attitudes of 53 PE teachers from Portuguese public schools. It was applied a mixed methodology, using a scale of attitude and a discussion group. The results revealed positive attitudes, that depended on different factors. It was concluded a need to invest in specific formation of teachers, in the multidisciplinary support, in curricular differentiation, on infrastructures and in the active participation of the whole educational community.Educación Física Inclusiva: Actitudes del ProfesoradoLa Educación Física se percibe como una materia privilegiada para la Inclusión de Estudiantes con Necesidades Educativas Especiales. El objetivo de este estudio fue describir las actitudes inclusivas de 53 docentes de Educación Física de escuelas públicas portuguesas. Se aplicó una metodología mixta, usando una escala de actitud y un grupo de discusión. Los resultados revelaron actitudes positivas, que se relacionan con distintos factores. Se concluye que es preciso invertir en la formación específica de los profesores, en el apoyo multidisciplinar, en la diferenciación curricular, en infraestructuras y en la participación activa de toda la comunidad educativa.A Educação Física (EF) é vista como um componente curricular privilegiado na Inclusão de estudantes com Necessidades Educativas Especiais (NEE). Pretendeu- se com este estudo descrever as atitudes inclusivas de 53 docentes de EF a lecionar em escolas públicas do Distrito do Porto - Portugal. Aplicou-se uma metodologia mista, com recurso a uma escala de atitude e a um grupo de discussão. Os resultados revelaram atitudes positivas, que dependeram de diferentes fatores. Concluiu-se a necessidade de investir na formação específica dos docentes, no apoio multidisciplinar, na diferenciação curricular, nas infraestruturas e na participação ativa de toda a comunidade educativa

Caracterização do perfil psicológico de prestação e orientação cognitiva de atletas com deficiência intelectual.

Dissertação de Mestrado em Ciências do Desporto, especialização em Actividade Física Adaptada, apresentada à Faculdade de Ciências do Desporto e de Educação Física da Universidade do Port

X-linked adrenal hipoplasia congenita: clinical and follow-up findings of two kindreds, one with a novel NR0B1 mutation

X-linked adrenal hypoplasia congenita typically manifests as primary adrenal insufficiency in the newborn age and hypogonadotropic hypogonadism in males, being caused by mutations in NR0B1 gene. We present the clinical and follow-up findings of two kindreds with NR0B1 mutations. The proband of kindred A had a diagnosis of primary adrenal insufficiency when he was a newborn. Family history was relevant for a maternal uncle death at the newborn age. Beyond 2 year-old steroid measurements rendered undetectable and delayed bone age was noticed. Molecular analysis of NR0B1 gene revealed a previously unreported mutation (c.1084A>T), leading to a premature stop codon, p.Lys362*, in exon 1. His mother and sister were asymptomatic carriers. At 14 year-old he had 3 mL of testicular volume and biochemical surveys (LH < 0.1 UI/L, total testosterone < 10 ng/dL) concordant with hypogonadotrophic hypogonadism. Kindred B had two males diagnosed with adrenal insufficiency at the newborn age. By 3 year-old both siblings had undetectable androgen levels and delayed bone age. NR0B1 molecular analysis identified a nonsense mutation in both cases, c.243C>G; p.Tyr81*, in exon 1. Their mother and sister were asymptomatic carriers. At 14 year-old (Tanner stage 1) hypothalamic-pituitary-gonadal axis evaluation in both males (LH < 0.1UI/L, total testosterone < 10 ng/dL) confirmed hypogonadotropic hypogonadism. In conclusion, biochemical profiles, bone age and an X-linked inheritance led to suspicion of NR0B1 mutations. Two nonsense mutations were detected in both kindreds, one previously unreported (c.1084A>T; p.Lys362*). Mutation identification allowed the timely institution of testosterone in patients at puberty and an appropriate genetic counselling for relatives

Síndrome de Cushing cíclica – apresentação de um caso clínico e revisão da literatura

ResumoA síndrome de Cushing cíclica (SCC) é rara e caracteriza‐se por episódios de hipercortisolismo, intercalados com períodos de secreção normal de cortisol. É diagnosticada pela identificação de 3 picos e 2 vales na produção de cortisol. Os autores descrevem um caso de SCC, alertando para os seus desafios e particularidades, e realizam uma revisão da literatura.Doente do sexo feminino, 32 anos, com clínica de hipercortisolismo e avaliação analítica compatível com síndrome de Cushing. No estudo etiológico obteve‐se hormona adrenocorticotrófica (ACTH) doseável (45pg/mL), frenação <50% do cortisol na prova de dexametasona 8mg (44%) e resposta excessiva de ACTH (96%) e cortisol (63%) na prova de CRH. A ressonância magnética nuclear selar foi sugestiva de microadenoma hipofisário. Para confirmacão de doença de Cushing foi programado cateterismo dos seios petrosos inferiores, sem confirmação prévia de hipercortisolismo. Obteve‐se um gradiente de ACTH central/periférico pós CRH < 3, inconclusivo para causa hipofisária. Os exames de localização de tumor ectópico foram negativos. Dada a incerteza diagnóstica, optou‐se inicialmente por vigilância laboratorial, identificando‐se mais de 3 picos e 2 vales na produção de cortisol, sugerindo o diagnóstico de SCC. A clínica foi flutuante, coincidindo com os períodos de hipercortisolismo. Decidiu‐se então por cirurgia transesfenoidal e o exame histológico foi compatível com adenoma hipofisário positivo para ACTH. Constatou‐se remissão da doença.Os autores alertam para a importância de requisitar doseamentos laboratoriais frequentes quando se suspeita de SCC, com o objetivo de identificar picos e vales na produção de cortisol. No momento de realização do cateterismo, a doente provavelmente estaria numa fase de produção normal de cortisol, o que condicionou o resultado inconclusivo e o atraso no diagnóstico e terapêutica. O estudo etiológico deve ser efetuado durante uma fase de excesso de cortisol, exigindo confirmação analítica prévia.AbstractCyclic Cushing's syndrome (CCS) is a rare disorder, characterized by episodes of hypercortisolism, interspersed by periods of normal cortisol secretion. Its diagnosis is made by identifying 3 peaks and 2 troughs of cortisol production. The authors report a case of CCS, addressing its challenges and features, and perform a review of the literature.A 32‐year‐old woman presented with clinical signs of hypercortisolism and biochemical evaluation was consistent with Cushing's syndrome. Tests to define its cause revealed a detectable adrenocorticotropic hormone (ACTH) (45pg/mL), <50% cortisol decrease following high dose dexamethasone suppression test (44%) and exaggerated response of ACTH (96%) and cortisol (63%) after CRH stimulation test. Pituitary magnetic resonance imaging identified a pituitary microadenoma. To confirm the diagnosis of Cushing's disease, an inferior petrosal sinus sampling was scheduled without prior confirmation of hypercortisolism. An ACTH petrosal sinus/peripheral ratio < 3 after CRH administration was found, inconclusive for a pituitary origin. Exams to localize an ectopic tumor were negative. Owing to the diagnostic uncertainty, the authors initially decided to monitor the patient and identified more than 3 peaks and 2 troughs of cortisol production, suggesting the diagnosis of CCS. Clinical signs were fluctuating and appeared during periods of hypercortisolism. We then decided to perform a transsphenoidal surgery and histological examination revealed an ACTH positive pituitary adenoma. Disease remission was achieved.The authors highlight the need of frequent laboratory measurements when CCS is suspected, to identify peaks and troughs of cortisol production. When sampling was performed, the patient would probably be in a period of normal cortisol production, contributing to the inconclusive result and the delay in proper diagnosis and therapy. Tests used to determine the cause of CCS should be carried out during a period of cortisol excess, requiring prior confirmation of hypercortisolism

Molecular analysis of the NR0B1 in three Portuguese families with X-linked Adrenal Hypoplasia Congenita

X-linked Adrenal Hypoplasia Congenita (X-linked AHC) is a rare disorder associated with acute adrenal insufficiency in the newborn age that typically cause vomiting, feeding difficulty, dehydration, and shock due to a salt-wasting episode. Hypoglycemia, frequently presenting with seizures, may be the first symptom. If untreated, adrenal insufficiency is lethal. Affected males, despite hormonal treatment, typically have delayed puberty (onset after age 14) caused by hypogonadotropic hypogonadism, and most of them are infertile at adult age. Carrier females may occasionally have symptoms of adrenal insufficiency or hypogonadotropic hypogonadism, possibly caused by skewed X-chromosome inactivation. X-linked AHC is caused by mutations in NR0B1 gene, a critical gene involved in the development of adrenals and hypothalamic-pituitary-gonadal axis. Since the identification of the NR0B1 gene, numerous mutations have been discovered including deletions, alterations of splice-sites, missense, nonsense and frameshift mutations. Here we present the molecular results obtained in three Portuguese families with NR0B1 mutations. Mutation analysis was performed by PCR followed by SSCP analysis and sequencing of DNA fragments showing abnormal patterns on a second PCR product, or by direct DNA cycle sequencing of PCR products. Molecular analysis of the NR0B1 gene in proband A revealed a nonsense mutation, c.1084A>T, p.Lys362*, in exon 1, not previously described. His mother and sister were asymptomatic carriers; in family B a nonsense mutation, c.243C>G; p.Tyr81*, also in exon 1, was identified in two affected males and their mother and sister were also asymptomatic carriers; in family C a frameshift mutation, c.1292delG, p.Ser431Ilefs*6, in exon 2, was detected in a 7 years old affected male and his mother. The maternal origin of mutations was confirmed in the three families studied. The identification of a NR0B1 mutation in a family has important implications: a correct clinical diagnosis can be established, appropriate clinical management of affected members and suitable genetic counselling can be offered, female carriers can be identified and disease can be prevented

X-linked Adrenal Hypoplasia Congenita: report of two families and a new NR0B1 mutation

Background: X-linked Adrenal Hypoplasia Congenita (X-linked AHC) tipically manifests as adrenal insufficiency in a bimodal clinical presentation (5–60 days and 2–13 years) and, at pubertal age, hypogonadotropic hypogonadism (HH) in males. It is caused by mutations in NR0B1 (present in Xp21.2), a gene with a critical role in the development of adrenals and hypothalamic-pituitary-gonadal (HPG) axis. It represents ~1% of all causes of primary adrenal insufficiency under age 18. We present two kindreds with NR0B1 mutations, one with a previously unreported mutation. Clinical case - family A: The proband presented with adrenal crisis at day 18 of life. Family history was relevant for an uncle death as a newborn. Hormonal assays revealed elevated ACTH (34,5 pmol/L, reference: T, leading to a premature stop codon, p.Lys362*, in exon 1. His mother and sister were both asymptomatic carriers for this mutation. This mutation, not described previously, leads probably to a non-functional truncated protein. Clinical case - family B: Kindred B had two males who presented with adrenal crisis at the newborn age (proband: 14 days; brother: 16 days). At 6 months of age, the proband had elevated ACTH (193.2 pmol/L, reference: G; p.Tyr81*, in exon 1, present in the two affected males. His mother and one sister were also asymptomatic carriers. Conclusion: Our kindreds highlights the clinical aspects of the rare X-linked AHC and its challenging differential diagnosis. The diagnosis was based on …. Completar … and an apparently X-linked mode of inheritance. Molecular analysis of the NR0B1 gene allowed the identification of the molecular defect in both families. Two different nonsense mutation in exon 1 were identified, giving rise most probably to truncated non-functional proteins, confirming the disease severity or the clinical phenotype of the affected boys. Mutation identification was relevant for genetic counseling of the parents, as well as for the patient’s sisters

Use of commercial mycorrhizal fungi in stress-free growing conditions of potted olive cuttings

Biofertilizers of mycorrhizal fungi have been mainly tested in nutrient-limited soils or harsh environmental conditions, which have helped to highlight their beneficial role in plant growth. However, their benefits in stress-free growing conditions have not yet been properly proven. In this work, a commercial mycorrhizal fungi, composed of 18 ecto and endomycorrhizal fungi, was tested in a pot experiment with young olive cuttings, under an experimental apparatus allowing the evaluation of dry matter yield and plant nutritional status after one and two years of growth. The results highlighted the role of the mycorrhiza in increasing P bioavailability, either evaluated by soil P labile fraction or through tissue P concentration. The role of mycorrhiza in increasing soil organic C was also relevant (7% higher than the control). Mycorrhiza had little effect on the uptake of other nutrients and on the alleviation of excessive levels of metals, in particular Fe, in the shoots. Instead, olive showed its own exclusion mechanisms, registering root Fe levels 50 times higher than in shoots. Mycorrhiza did not improve plant growth compared to the other fertilized treatments. The increase in plant dry matter observed in the mycorrhiza treatment in comparison to the control was probably due to the initial content of the commercial product of N, P and K (3% N, 3% P2O5 and 3% K2O). Under the conditions of this experiment, the farmer would not benefit from the use of this mycorrhizal fungi, but it nevertheless proved its value for agriculture, suggesting that commercial products should be targeted more towards specific purposes, than for generalized uses.This research was funded by the Foundation for Science and Technology (FCT, Portugal) and FEDER under Programme PT2020 for financial support to CIMO (UIDB/00690/2020) and CITAB (UIDB/04033/2020). The research was integrated in the activities of the Operational Group “Novas práticas em olivais de sequeiro: estratégias de mitigação e adaptação às alteraçõeses climáticas”, funded by PT2020 and EAFRD (European Agricultural Fund for Rural Development).info:eu-repo/semantics/publishedVersio

Contra a maré cremos, crianças, que basta edificar mais cubos e muralhas de areia

This work is not a scientific paper and therefore does not follow the typical structure. This text is a collection of the opinions of several researchers that share a common interest in coastal areas. They were asked to reflect – based on their personal and professional experience – about present coastal management, using as a start the phrase of the plastic artist Carlos Augusto Ribeiro – Like children we believe that stopping the tide is only a matter of building more sand walls. Several themes are addressed: traditional populations and knowledge, maritime engineering works, conflict management, ecosystems destruction and unsustainability, new models for coastal management and participative citizenship.info:eu-repo/semantics/publishedVersio

Knowledge about carbohydrate count and metabolic control in patients with continuous subcutaneous insulin perfusion system

A prevalência da Diabetes Mellitus tipo 1 tem vindo a aumentar nos últimos anos. O tratamento intensivo através de Sistema de Perfusão Subcutânea Contínua de Insulina é o método mais fisiológico de administração de insulina atualmente disponível. Para que este seja eficaz é fundamental ter conhecimentos sobre a composição dos alimentos, particularmente os Hidratos de Carbono. O presente estudo teve como objetivos avaliar e caracterizar o controlo metabólico, compará-lo antes e depois do Sistema de Perfusão Subcutânea Contínua de Insulina, avaliar os conhecimentos de contagem de Hidratos de Carbono e relacioná-los com o controlo metabólico. Trata-se de um estudo observacional, analítico e retrospetivo, com uma amostra de conveniência constituída pelos utentes com consulta entre novembro 2017 e março de 2018 no Hospital Garcia de Orta. A avaliação do controlo metabólico foi realizada através da HbA1c. Na avaliação dos conhecimentos sobre contagem de Hidratos de Carbono utilizou-se uma adaptação do questionário PedCarbQuiz. Avaliaram-se 60 indivíduos com uma média de idades 21,3 ± 14,27 anos [2 - 57]. Aquando a colocação do Sistema de Perfusão Subcutânea Contínua de Insulina, apenas 23,6% da amostra se encontrava com a HbA1c dentro dos valores recomendados. Três meses após a colocação do Sistema de Perfusão Subcutânea Contínua de Insulina verificou-se uma diminuição significativa da HbA1c, que estabilizou após os 6 primeiros meses. Relativamente aos conhecimentos sobre contagem de HC, 78,3% possuíam nível muito bom e os restantes nível bom. Não foi detetada correlação significativa entre a HbA1c e os conhecimentos de contagem de Hidratos de Carbono, ou seja, ter mais conhecimentos não demonstrou ter influência no controlo metabólico da amostra.ABSTRACT - The prevalence of type 1 diabetes mellitus has been increasing in recent years. Intensive treatment through Continuous Subcutaneous Insulin Perfusion System is the most physiological method of insulin administration currently available. For this to be effective it is essential to have knowledge about the composition of the food, particularly about its content in carbohydrates. The aim of the present study was to evaluate and characterize metabolic control, to compare it before and after the Continuous Subcutaneous Insulin Perfusion System, to evaluate the carbohydrates count knowledge and to relate it to metabolic control. This is an observational, analytical and retrospective study, with a convenience sample of patients consulted between November 2017 and March 2018 at the Garcia de Orta Hospital. The evaluation of metabolic control was performed through HbA1c. In the evaluation of the knowledge about carbohydrates count, an adaptation of the PedCarbQuiz questionnaire was used. Sixty individuals with a mean age of 21.3 ± 14.27 years were evaluated [2-57]. At the Subcutaneous Insulin Perfusion System, placement, only 23.6% of the sample was HbA1c within the recommended values. 3 months after Continuous Subcutaneous Insulin Perfusion System placement there was a substantial decrease in HbA1c, which stabilized after the first 6 months. Regarding the knowledge about carbohydrates count, 78.3% had a “very good” level and the remaining “good” level. No significant correlation was detected between HbA1c and carbohydrates counting knowledge. Having more knowledge has not been shown to influence the metabolic control of the sample.info:eu-repo/semantics/publishedVersio