Browsing by Issue Date, starting with "2013-04"
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- Atypical Cogan’s SyndromePublication . Queirós, J.; Maia, S.; Seca, M.; Friande, A.; Araújo, M.; Meireles, A.Background. Cogan's syndrome is a rare clinical entity whose etiopathology is still unknown, and the treatment strategies are not clearly defined. Case. A 23-year-old male presented with symptoms of headache, peripheral facial palsy, persistent right hearing loss and bilateral papillitis. Workup excluded all infectious, granulomatous, neoplastic, and immune causes. The diagnosis of atypical Cogan's syndrome was established, and the patient was treated with systemic corticosteroids and later on with cyclophosphamide and methotrexate. There were improvement of visual symptoms and stabilisation of left hearing. Conclusion. Cogan's syndrome is a very rare disease with no specific biological tests for the diagnosis. The diagnostic exams are mostly important to exclude other etiologies. The atypical ocular and audiovestibular manifestations make the diagnosis difficult, delaying the institution of appropriate therapy which may result in profound bilateral deafness.
- Liver Transplantation Prevents Progressive Neurological Impairment in ArgininemiaPublication . Santos-Silva, E.; Cardoso, M.; Vilarinho, L.; Medina, M.; Barbot, C.; Martins, E.Argininemia is a rare hereditary disease due to a deficiency of hepatic arginase, which is the last enzyme of the urea cycle and hydrolyzes arginine to ornithine and urea. The onset of the disease is usually in childhood, and clinical manifestations include progressive spastic paraparesis and mental retardation. Liver involvement is less frequent and usually not as severe as observed in other UCDs. For this reason, and because usually there is a major neurological disease at diagnosis, patients with argininemia are rarely considered as candidates for OLT despite its capacity to replace the deficient enzyme by an active one. We report on long-term follow-up of two patients with argininemia. Patient 1 was diagnosed by the age of 20 months and despite appropriate conventional treatment progressed to spastic paraparesis with marked limp. OLT was performed at 10 years of age with normalization of plasmatic arginine levels and guanidino compounds. Ten years post-OLT, under free diet, there is no progression of neurological lesions. The second patient (previously reported by our group) was diagnosed at 2 months of age, during a neonatal cholestasis workup study. OLT was performed at the age of 7 years, due to liver cirrhosis with portal hypertension, in the absence of neurological lesions and an almost-normal brain MRI. After OLT, under free diet, there was normalization of plasmatic arginine levels and guanidino compounds. Twelve years post-OLT, she presents a normal neurological examination. We conclude that OLT prevents progressive neurological impairment in argininemia and should be considered when appropriate conventional treatment fails.
- A position paper of the EFLM Committee on Education and Training and Working Group on Distance Education Programmes/E-Learning: developing an e-learning platform for the education of stakeholders in laboratory medicinePublication . Gruson, D.; Faure, G.; Gouget, B.; Haliassos, A.; Kisikuchin, D.; REGUENGO, HENRIQUE; Topic, E.; Blaton, V.The progress of information and communication technologies has strongly influenced changes in healthcare and laboratory medicine. E-learning, the learning or teaching through electronic means, contributes to the effective knowledge translation in medicine and healthcare, which is an essential element of a modern healthcare system and for the improvement of patient care. E-learning also represents a great vector for the transfer knowledge into laboratory practice, stimulate multidisciplinary interactions, enhance continuing professional development and promote laboratory medicine. The European Federation of Laboratory Medicine (EFLM) has initiated a distance learning program and the development of a collaborative network for e-learning. The EFLM dedicated working group encourages the organization of distance education programs and e-learning courses as well as critically evaluate information from courses, lectures and documents including electronic learning tools. The objectives of the present paper are to provide some specifications for distance learning and be compatible with laboratory medicine practices.
- Descrição, factores, preditores e prognóstico dos derrames parapneumónicosPublication . Ferreira, J.; Maia, J.; Mendonça, C.; Carvalho, D.; Paiva, P.; Correia, J.Resumo Introdução: A infecção pleural é um problema comum na prática clínica. Uma porção significativa das infecções no espaço pleural representa um processo progressivo que leva à transformação de um derrame simples em complicado. A maioria dos autores sugere que a decisão terapêutica depende do estadio de evolução da doença. Objectivos: Descrever e caracterizar os derrames parapneumónicos quanto à forma de apresentação, características, terapêutica instituída e evolução. Métodos: Estudo observacional, retrospectivo e longitudinal com base na análise dos processos clínicos dos doentes com o diagnóstico de derrame parapneumónico, entre Janeiro de 2005 e Junho de 2011. Trinta e quatro casos cumpriram critérios de inclusão. Resultados: A evolução do quadro clínico parece ser independente do tipo de dreno/catéter usado (p=0,608). Os empiemas associam-se com significado estatístico a não resolução inicial do quadro (p=0,024). A presença de derrames loculados aumentou o tempo de internamento médio em aproximadamente 10 dias (p=0,071) e acarretou um prolongamento no tempo médio de antibioterapia de 13 dias (p=0,049). Conclusões: O derrame parapneumónico com significado clínico parece ter baixa incidência, contudo é uma patologia que acarreta prolongamento no tempo de internamento e potenciais complicações. Deve preferir-se a utilização de catéteres de pequeno diâmetro (10-14F). Os parâmetros que pioram significativamente o prognóstico são a presença de empiema ou de derrames loculados.