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Effects of sewage pollution on the structure of rocky shore macroinvertebrate a...

The urgency to find efficient indices and indicators to prevent further deterioration of coastal areas is one of the hot topics in today’s scientific publication. However, a detailed knowledge of community responses to anthropogenic impacts is essential to sustain those indices. The studies on the response of benthic community to sewage pollution on intertidal rocky shores are generally based on visual census a...

Atypical Phenotype in Two Patients with LAMA2 Mutations

Congenital muscular dystrophy type 1A is caused by mutations in the LAMA2 gene, which encodes the a2-chain of laminin. We report two patients with partial laminin-a2 deficiency and atypical phenotypes, one with almost exclusive central nervous system involvement (cognitive impairment and refractory epilepsy) and the second with marked cardiac dysfunction, rigid spine syndrome and limb-girdle weakness. Patients ...

Effect of Saccharomyces cerevisiae cells immobilisation on mead production

Mead is a traditional alcoholic beverage obtained by the fermentation of diluted honey performed by yeasts. In this work the potential of application of immobilised yeast cells on single-layer Ca-alginate or double-layer alginateechitosan for mead production was assessed for the first time. The meads produced either with entrapped or free cells were evaluated in terms of quality and aroma profile. The immobilis...

Looking through the glass walls : women engineers in Portugal

Women face significant barriers adjusting to the professional culture of engineers, which is strongly connected to hegemonic masculinity. This study aims to investigate how Portuguese female engineers negotiate their identities and subjective positions in a relational environment marked by this dominant form of masculinity. Drawing on the analyses of interviews with 39 female engineers, we focused on the wayswo...

Efectividade da Rede de Referenciação Perinatal da Região Centro

Resumo Em 1990 foi desenvolvida em Portugal uma Rede de Referenciação Perinalal, com definição dos limites e as responsabilidades assistenciais dos Hospitais de Apoio Perinatal Diferenciado (HAPD) e dos Hospitais de Apoio Perinatal (HAP). Graças ao espírito de cooperação c complementaridade desenvolvidos, os critérios de transferência iu útero e pós natal estão bem estabelecidos* Com os resultados do Registo Na...

Metformina: causa ou coincidência?

Ryanodine myopathies without central cores-clinical, histopathologic, and genet...

BACKGROUND: Mutations in ryanodine receptor 1 gene (RYR1) are frequent causes of myopathies. They classically present with central core disease; however, clinical variability and histopathologic overlap are being increasingly recognized. PATIENTS: Patient 1 is a 15-year-old girl with mild proximal, four-limb weakness from age 5, presenting with a progressive scoliosis starting at age 10. Patient 2 is an 18-yea...

Dermatose Bolbosa Crónica Linear por IgA: Apresentação de um Caso Clínico e Rev...

A doença bolhosa crónica da infância ou doença IgA linear da infância é uma doença adquirida de provável origem auto-imune, caracterizada pelo envolvimento da pele e mucosas por vesículas, bolhas e erosões. O diagnóstico diferencial faz-se com outras doenças auto--imunes, como o penfigóide bolhoso e dermatite herpetiforme.O impetigo bolhoso e o herpes simplex também devem ser considerados no diagnóstico diferen...

Atypical phenotype in two patients with LAMA2 mutations

Congenital muscular dystrophy type 1A is caused by mutations in the LAMA2 gene, which encodes the α2-chain of laminin. We report two patients with partial laminin-α2 deficiency and atypical phenotypes, one with almost exclusive central nervous system involvement (cognitive impairment and refractory epilepsy) and the second with marked cardiac dysfunction, rigid spine syndrome and limb-girdle weakness. Patients ...

DR(E)SS TO ABACAVIR CONFIRMED BY PATCH TESTS

Abacavir hypersensitivity is a potentially fatal systemic adverse reaction that occurs in 2-9% of exposed patients. Symptoms appear during the first 6 weeks of therapy and are similar to DRESS although usually there is no eosinophilia. Studies have confirmed a positive relation with HLA-B*5701, particularly when only cases confirmed by a positive epicutaneous patch test were considered. This HLA allele is now c...