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Browsing by Issue Date, starting with "2018-10-29"

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  • Lysosomal Storage Diseases: an overview
    Publication . Alves, Sandra
    Lysosomal storage diseases (LSDs)are an heterogenous group rare inherited metabolic diseases caused by mutations mutations in proteins critical critical for lysosomal function.
    2018-10-29Lecture Restricted access Show more
  • Leigh syndrome: a case report with a mitochondrial DNA mutation
    Publication . Lopes, Tânia; Coelho, Margarida; Bordalo, Diana; Bandeira, António; Bandeira, Anabela; Vilarinho, Laura; Fonseca, Paula; Carvalho, Sónia; Martins, Cecília; Oliveira, José Gonçalves
    Objective: Leigh syndrome is a neurodegenerative disorder with an incidence of 1:40,000 live births. It presents wide clinical, biochemical, and genetic heterogeneity, but with homogenous neuropatoradiological alterations. There is no specific treatment, and the prognosis is reserved. This case report aimed familiarize health professionals with the disease. Case Description: A 16-month-hold girl who was followed in outpatient clinic due to axial hypotonia and delayed psychomotor development. Karyotype, auditory evoked potentials and ophthalmologic evaluation were normal. Evidence of hyperlactacidemia and hypocitrullinemia was detected in the patient. After performing brain magnetic resonance under anesthesia, hypotonia got worse, and the patient was hospitalized after an episode of cyanosis and apnea. The electroencephalogram showed no epileptiform activity. Neuroimaging revealed bilateral lenticular hyperintensity, especially in the putamen and in the left globus pallidus regions. Molecular analysis revealed an 8993T>G (MT-ATP6) mutation in the mitochondrial DNA. Comments: Between 10 and 30% of individuals with Leigh syndrome have mitochondrial DNA mutations. The decompensation after anesthetic intercurrences is typically associated with neurological deterioration and, in this case, increased the diagnosis suspicion. It is important to alert for similar cases and to reduce invasive diagnostic tests if the diagnosis is suspected.
    2018-10-29Journal article Open access Show more
  • Investigação laboratorial de surtos de toxinfecção alimentar e protocolos de vigilância microbiológica
    Publication . Belo Correia, Cristina
    Sumário: 1. Apresentação do INSA, I.P. e das actividades do Laboratório de Microbiologia do Departamento de Alimentação e Nutrição. 2. Acreditação de ensaios. 3. Doenças de origem alimentar. 4. Investigação laboratorial de surtos de toxinfecção alimentar. 5. Comunicação dos dados que chegam ao conhecimento do INSA à European Food Safety Authority (EFSA) e dados reportados em 2016. 6. Protocolos de vigilância microbiológica em unidades de alimentação colectiva. 7. Amostras de alimentos prontos para consumo e superfícies do ambiente de produção: colheita, ensaios microbiológicos e interpretação de resultados de acordo com os Valores Guia INSA - 2005. 8. Ensaios analíticos para verificação da conformidade com o Regulamento (EU) N.º 2073/2005.
    2018-10-29Lecture Restricted access Show more