Browsing by Author "Oliveira, D."
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- A case of Protracted Diarrhea in a Newborn: a Diagnostic ChallengePublication . Mendes, C.; Figueiredo, C.; Mansilha, H.; Proença, E.; Oliveira, D.; Lima, R.; Carvalho, C.Congenital diarrhea comprises a broad range of pathologies and often requires a thorough workup and immediate treatment. Although rare, microvillous inclusion disease (MVID) should be included in differential diagnosis of this presentation in the neonate. We report the case of a 36-week newborn who developed signs of severe dehydration and lethargy, requiring fluid resuscitation and total parenteral nutrition. MVID was diagnosed by recognition of profuse secretory diarrhea after an exhaustive etiological investigation, confirmed by DNA analysis.
- Caso Neurológico: Síndrome de JoubertPublication . Oliveira, D.; Andrade, I.; Fineza, I.; Saraiva, J.; Andrade, N.; Moreira, N.
- Changes in the Clonal Nature and Antibiotic Resistance Profiles of Methicillin-Resistant Staphylococcus aureus Isolates Associated with Spread of the EMRSA-15 Clone in a Tertiary Care Portuguese HospitalPublication . Amorim, M.; Faria, N.; Oliveira, D.; Vasconcelos, C.; Cabeda, J.; Mendes, A.; Calado, E.; Castro, A.; Ramos, M.; Amorim, J.; Lencastre, H.Abstract Two hundred eighty methicillin-resistant Staphylococcus aureus (MRSA) clinical isolates recovered from a tertiary care hospital in Oporto, Portugal, between 2003 and 2005 were studied by a combination of molecular typing techniques in order to investigate the genetic backgrounds associated with the changes in the resistance phenotypes observed since 2001 and compare them to those previously found in the hospital. All MRSA isolates were grouped into resistance profiles for a panel of seven antibiotics and characterized by pulsed-field gel electrophoresis (PFGE) and SCCmec (staphylococcal cassette chromosome mec) typing. Representative isolates of PFGE types were further studied by spa typing and multilocus sequence typing. Our findings clearly document that the increasing isolation of nonmultiresistant MRSA strains was associated with the decline (from 69% in 1996 to 2000 to 12% in 2003 to 2005) and massive replacement of the multiresistant Brazilian clone (ST239-IIIA) by the epidemic EMRSA-15 clone (ST22-IV), in which resistance to antibiotics other than beta-lactams is very rare, as the major clone (80% of isolates). The Iberian clone (ST247-IA), a major clone in 1992 to 1993, was represented in the present study by just one isolate. Two other pandemic MRSA clones were detected, as sporadic isolates, for the first time in our hospital: the New York/Japan (ST5-II) and the EMRSA-16 (ST36-II) clones. Furthermore, the pattern of susceptibility of MRSA isolates both to gentamicin and to trimethoprim-sulfamethoxazole was shown to be an excellent phenotypic marker for the discrimination of the EMRSA-15 clone from other nonmultiresistant MRSA clones present in our hospital.
- Neonatal Hemophilia: A Rare PresentationPublication . Ferreira, N.; Proença, E.; Godinho, C.; Oliveira, D.; Guedes, A.; Morais, S.; Carvalho, C.Hemophilia A is a X-linked hereditary condition that lead to decreased factor VIII activity, occurs mainly in males. Decreased factor VIII activity leads to increased risk of bleeding events. During neonatal period, diagnosis is made after post-partum bleeding complication or unexpected bleeding after medical procedures. Subgaleal hemorrhage during neonatal period is a rare, severe extracranial bleeding with high mortality and usually related to traumatic labor or coagulation disorders. Subgaleal hemorrhage complications result from massive bleeding. We present a neonate with unremarkable family history and uneventful pregnancy with a vaginal delivery with no instrumentation, presenting with severe subgaleal bleeding at 52 hours of life. Aggressive support measures were implemented and bleeding managed. The unexpected bleeding lead to a coagulation study and the diagnosis of severe hemophilia A. There were no known sequelae. This case shows a rare hemophilia presentation reflecting the importance of coagulation studies when faced with unexplained severe bleeding.
- A Novel Noonan Syndrome RAF1 Mutation: Lethal Course in a Preterm InfantPublication . Ratola, A.; Silva, H.; Guedes, A.; Mota, C.; Braga, A.; Oliveira, D.; Alegria, A.; Carvalho, C.; Álvares, S.; Proença, E.Noonan syndrome is a relatively common and heterogeneous genetic disorder, associated with congenital heart defect in about 50% of the cases. If the defect is not severe, life expectancy is normal. We report a case of Noonan syndrome in a preterm infant with hypertrophic cardiomyopathy and lethal outcome associated to acute respiratory distress syndrome caused by Adenovirus pneumonia. A novel mutation in the RAF1 gene was identified: c.782C>G (p.Pro261Arg) in heterozygosity, not described previously in the literature. Consequently, the common clinical course in this mutation and its respective contribution to the early fatal outcome is unknown. No conclusion can be established regarding genotype/phenotype correlation.
- Pneumonite intersticial crónicaPublication . Almeida, R.; Reis, G.; Ferreira, C.; Oliveira, M.; Oliveira, D.; Fernandes, P.; Ferreira, P.; Frutuoso, S.; Carreira, L.; Alves, V.; Paiva, A.; Guedes, M.A patologia pulmonar intersticial compreende um grupo de doenças crónicas caracterizadas por alterações das paredes alveolares e perda das unidades funcionais alveolocapilares. São doenças raras nas crianças, na sua maioria de causa desconhecida e revestindo-se habitualmente de uma elevada morbimortalidade, dada a pouca eficácia da terapêutica actualmente disponível. Os autores descrevem o caso clínico de uma criança de 3 anos, previamente saudável, que no contexto de uma infecção respiratória desenvolve um quadro de sibilância e insuficiência respiratória grave, na investigação do qual é diagnosticada uma pneumonite intersticial crónica. Foram tentadas diversas terapêuticas (corticoterapia sistémica, hidroxicloroquina, N-acetilcisteína) sem melhoria evidente.Interstitial lung disease includes a group of chronic diseases characterized by alterations in alveolar walls and loss of functional alveolar-capillary units. These are rare diseases in children, mostly with an unknown cause and associated with a high morbidity and mortality due to insufficient therapeutic effectiveness. The authors report a case of a previously healthy 3 years old child who presented with wheezing and severe respiratory insufficiency following a respiratory infection. The investigation performed led to the diagnosis of chronic interstitial pneumonitis. Several treatments have been tried (corticosteroids,hydroxychloroquine, N-acetylcysteine) without any obvious improvement.
- Prática ventilatória em recém-nascidos de extremo baixo pesoPublication . Ratola, A.; Silva, H.; Oliveira, D.; Carvalho, C.; Almeida, A.; Proença, E.Introdução: As práticas ventilatórias nos recém-nascidos de extremo baixo peso (RNEBP) têm vindo a alterar-se ao longo dos anos, havendo uma preocupação crescente em implementar estratégias protetoras do pulmão. O presente trabalho pretendeu caracterizar a prática ventilatória nos RNEBP numa unidade de cuidados intensivos neonatais. Métodos: Análise retrospetiva dos registos clínicos dos RNEBP, admitidos entre 01/09/2010 e 31/08/2013. Resultados: Foram admitidos 94 RNEBP (mediana peso 790 g), com idade gestacional de 23-32 semanas (mediana 27 semanas). Foi administrado pelo menos um ciclo de corticoide pré-natal em 65% e 69% receberam no mínimo uma dose de surfatante. Realizaram ventilação invasiva 74%, a maioria desde o nascimento, e 15% necessitaram de ventilação de alta frequência como resgate. Efetuaram ventilação não invasiva 70%, de forma exclusiva em 23% dos casos. Não precisaram de qualquer suporte ventilatório 3%. A mortalidade atingiu 31% (mediana idade gestacional 25 semanas), ocorrendo quase metade dos óbitos no primeiro dia de vida. Desenvolveram hemorragia pulmonar 7%, fuga aérea 5%, hemorragia intraperiventricular de grau III 22%, canal arterial hemodinamicamente significativo 23% e enterocolite necrosante 3%. O grupo que não realizou ventilação invasiva não apresentou hemorragia pulmonar, fuga aérea ou hemorragia intraperiventricular. Dos 65 sobreviventes, 20% desenvolveram displasia broncopulmonar moderada ou grave e 14% retinopatia da prematuridade (≥3/ doença plus). Discussão: O suporte ventilatório dos RNEBP tende a ser progressivamente mais protetor. No grupo analisado, a quase totalidade dos recém-nascidos necessitou de apoio ventilatório, mas cerca de um quarto realizou apenas ventilação não invasiva. A mortalidade global foi elevada, atingindo sobretudo os mais imaturos e em cerca de metade ocorreu no primeiro dia.