Médiatisation dans l'enseignement supérieur : vers un nouveau paradigme éducatif ?

Le statut de service public de l'enseignement supérieur suffit-il à garantir que l'innovation en cours se situe dans une rationalité davantage au service de l'innovation pédagogique qu'à celui d'intérêts économiques? Aussi est-il essentiel de poser la question du sens des transformations : s'agit-il du renforcement d'une pédagogie classique transmissive ou assiste-t-on au développement d'un autre paradigme de référence constructiviste et interactionniste? En ce sens, nous présentons des réflexions qui proviennent d'une recherche-action en cours portant sur l'Université en ligne (Uel) qui correspond au DEUG I de sciences. Selon les universités, les changements s'inscrivent dans des configurations hétérogènes. C'est peut-être de cette mise en oeuvre de dispositifs que dépend la réussite : on ne peut faire l'économie d'une ingénierie éducative s'inscrivant dans la complexité. Elle prend en compte des dimensions macro-éducatives (politique, finalités) méso (dispositif) et micro (ressources et écriture, apprentissages).Is the public service status of universities enough to ensure a rationale for development based on pedagogic innovation rather than economic interests? It is also essential to pose questions about the nature of changes: do they reinforce a traditional transmissional pedagogy or are we witnessing the development of a new constructivist or interactionist paradigm? We present here our reflections on a current action-research project, l'Université en ligne (Uel) - University on-line -, relating to an undergraduate science qualification, DEUG 1. Universities claim to be developing a range of models of development and it is perhaps this way that success lays. The complexity of an educational project is not in keeping with economic interests: macro-educational (politics, autonomy), meso (institutional provision) and micro (resources and writing, learning) dimensions must be taken into account

Macrotrombocitopenia isolada crónica hereditária - estudo de uma família Portuguesa

Apresenta-se uma família com macrotrombocitopenia hereditária crónica (MHC) documentada em 6 elementos pertencentes a 3 gerações. A propositus era uma criança com 7 anos de idade, enviada a Consulta de Hematologia por trombocitopenia moderada (90 X 109/L), encontrada ocasionalmente em hemograma pre-operatório de amiadalectomia e adenoidectomia. Tratava-se de um criança saudável, sem antecedentes patológicos de doença hemorrágica

A new case of (TA)8 allele in the UGT1A1 gene promoter in a caucasian girl with Gilbert' syndrome

The authors describe a 5-year-old Caucasian girl, referred to their hospital for evaluation of an unconjugated hyperbilirubinemia (57.9 μmol/L) detected from blood analysis during an episode of fever. The molecular analysis of the TATA-box region of the UGT1A1 gene revealed that the patient was a compound heterozygote for two insertions, one TA and the other TATA [(TA)7 /(TA)8 ]. This is the first case of (TA)8 allele found in a Portuguese Caucasian patient and the third found in the literature

Inherited and acquired risk factors and their combined effects in pediatric stroke

The aim of this study was to identify hereditary and acquired risk-factors as they are related to the occurrence of stroke in children. We identified 21 children with stroke. A search of the Factor V Leiden mutation, the Factor II G20210A variant, and the thermolabile variant of methylenetetrahydrofolate reductase was performed in patients and in a control group (n = 115).We identified risk factors of acquired and/or hereditary nature for stroke in 19 of 21 children. Eleven children had three or more risk factors, seven had two risk factors, and one child had only one risk factor. We found three carriers (14.3%) of the Factor V Leiden mutation, two carriers (9.5%) of the Factor II G20210A variant, eleven (52.4%) thermolabile variant of methylenetetrahydrofolate reductase heterozygote carriers, and one (4.8%) homozygotes for this variant.Frequencies of the Factor V Leiden mutation and the Factor II variant were higher in patients than in controls, suggesting that these variants are associated with an increased risk of stroke in childhood. Homozygosity for the thermolabile variant of methylenetetrahydrofolate reductase was equally frequent amongst patients and controls.Our study confirms that stroke in children is commonly associated with a combination of multiple risk factors, both genetic and acquired, and that the Factor V Leiden mutation and the Factor II G20210A variant are predisposing factors for this situation

Incidência de anemia ferripriva numa população pediátrica detectada na rotina pré-operatória

O despiste de ferropenia pré operatório numa população pediátrica, pode constituir uma oportunidade para detectar e corrigir estadios deficitários de ferro, susceptíveis de provocar sequelas a médio/longo prazo. Com o objectivo de detectar estas situações, fomos avaliar sistematicamente em todos os hemogramas, que deram entrada no Serviço de Patologia Clínica do Hospital Maria Pia num período de 6 meses, a presença de indicadores de défice de ferro, nomeadamente: hemoglobina (Hb), volume globular médio e RDW (red cell distribution width). Nos casos em que foi encontrada alteração em algum destes parâmetros foi efectuado: protoporfirina eritrocitária livre (PEL), ferro, ferritina e transferrina. Nas situações que confirmaram a presença de microcitose sem défice de ferro foi efectuado o doseamento de Hb A2 e Hb F e pesquisa de inclusões de Hb H. Das 557 amostras que deram entrada para estudo de rotina pré-operatória, nove (1,62%) apresentaram alteração de pelo menos um dos parâmetros considerados para despiste de ferropenia. Sete destas amostras revelaram ferropenia, duas das quais associadas a anemia e as outras duas apresentavam a pesquisa de inclusões de Hb H positivas, sugestivo do diagnóstico de α-talassemia minor. Com o presente trabalho pensamos ter contribuído, a diferentes níveis, para o aproveitamento integral de todas as informações analíticas fornecida pelos modernos contadores hematológicos.Preoperative haematological evaluation could be an opportunity to detect and correct iron deficiency in paediatric population. With this objective we screened this deficiency in a six-month period, searching for alterations in haemoglobin (Hb), median globular volume and/or red cell distribution width. In cases in which no alterations were found additional laboratory test were performed, namely: zinc protoporphyrin, iron, ferritin and transferrin. Situations associated with microcytosis without iron deficiency, HbA2, HbF and HbH inclusions were performed. In a six month period, 557 blood samples were studied. Nine of them (1,62%) presented an alteration in at least one parameter. Seven were associated with iron deficiency, from which two of them were associated with anaemia. The other two cases were positive for the presence of HbH inclusions, suggesting the α-thalassaemia minor diagnosis. With the present work we think to have contributed, at different levels, for the integral exploitation of all the analytical information supplied by the modern haematological counters

Coexistence of congenital red cell pyruvate kinase and band 3 deficiency

The authors report the case of a 9-year-old Caucasian girl, born in northern Portugal, with chronic nonspherocytic haemolytic anaemia and without family history of anaemia. The aethiological study of this anaemia revealed pyruvate kinase deficiency (PKD), because of two previously described mutations (426Arg fi Trp and 510Arg fi Gln). Since the blood smear revealed features not fully compatible with PKD diagnosis, additional tests were performed for the propositus and her parents, namely red blood cell membrane protein analysis. A decrease in proteins band 3 (15%) and 4.2 (18%) was found in the propositus. Her father presented only a decrease in band 3 (11%). Coexistence of PKD and erythrocyte membrane proteins deficiency in the same patient is very uncommon. Our findings suggest that a careful blood smear observation may lead to the identification of a combined deficiency in erythrocyte membrane proteins and enzymopathies

Trombocitopenia e ausência de radio (sindrome TAR): caso clínico

A síndroma de TAR (Mckusik 274000) é uma entidade autossómica recessiva caracterizada por anomalias dos membros, particularmente ausência de rádio associada a trombocitopenia hipomegacariócitica. Os autores descrevem uma criança com síndrome de TAR diagnosticado ao nascimento, com trombocitopenia grave (20 x 109/l), associada a ausência bilateral de rádio. No primeiro ano de vida a contagem de plaquetas situou-se entre 10 e 20 x 109/l com sintomatologia hemorrágica cutânea intermitente. Aos 4 meses ocorreu uma hemorragia subdural em contexto traumático que obrigou a intervenção neurocirurgica urgente. A melhoria da trombocitopenia após o primeiro ano possibilitou a realização de cirurgia ortopédica no sentido da melhoria funcional e estética das deformidades. Actualmente com 6 anos de idade, apresenta boa evolução estaturoponderal com desenvolvimento psicomotor adequado. Não apresenta sintomatologia hemorrágica sendo a contagem média de plaquetas de 60 X 109/l. Os autores discutem a possibilidade de um programa transfusional profilático de plaquetas alternativo à opção conservadora que foi decidida nesta criança

Molecular characterization of a portuguese patient with Shwachman-Diamond syndrome

Shwachman-Diamond syndrome (SDS) a rare autosomal recessive disorder described first time 1964 (1), is characterized by the association of exocrine pancreatic and bone marrow dysfunction. Other systemic findings (skeletal, liver and psychomotor) or problems secondary to bone marrow dysfunction may also be detected (1–4). Intermittent or persistent neutropenia is the most common hematologic finding, but anemia and thrombocytopenia are present in approximately 40% of the patients (1–4). In 2002, fine mapping identified the locus for SDS in band 7q11. More recently Boocock et al. (5) identified 18 positional candidate genes in this locus and examined eight of them for occurrence SDS-associated changes. They found alterations only in a previously uncharacterised gene. This gene, designated SBDS (Shwachman- Bodian-Diamond syndrome), is composed of five exons spanning 7.9Kb. The authors also described a pseudogene (SBDSP) with 97% homology to SBDS (5)

Determination of neutrophil Fcc receptor IIIb antigens (HNA-1a, HNA-1b and HNA-1c) by fluorescence-primed allele-specific polymerase chain reaction

We evaluate a technique for genotyping HNA-1a, -1b and -1c antigens, resorting to fluorescence-primed allele-specific polymerase chain reaction (FPAS-PCR), and determine the frequency of the different genotypes in a normal Portuguese population. Our results indicate that the FPAS-PCR system is a reliable and simple tool for genotyping the neutrophil Fcc receptor IIIB antigens. The HNA-1a, -1b and -1c gene frequencies of 42.98, 84.21 and 6.14%, respectively, found in this study are similar to those reported for other white populations