Browsing by Author "Gomes, D"
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- O C-erb-B2/HER2 no Cancro Gástrico: Importância Fisiopatológica em Época de Novas TerapêuticasPublication . Fradique, AC; Cabrita, F; Pupo, A; Quaresma, A; Silva, G; Silva, G; Costa, L; Esteves, J; Marques, M; Pina, F; Oliveira, M; Gomes, D
- Clinical Dilemma in the Treatment of a Patient with Microangiopathic Haemolytic Anaemia, Thrombocytopaenia and Severe HypertensionPublication . Gomes, D; Viegas, V; Castro, IWhile haemolytic uraemic syndrome in children is predominantly associated with Shiga toxin -producing Escherichia coli (typically 0157:H7), some cases occur without associated diarrhoea, or as the manifestation of an underlying disorder other than infection. Haemolytic uraemic syndrome is characterised by microangiopathic anaemia, thrombocytopaenia and renal failure, on occasion accompanied by severe hypertension. Malignant hypertension is a syndrome that sometimes exhibits the same laboratory abnormalities as haemolytic uraemic syndrome as it may share the same pathological findings: thrombotic microangiopathy. As clinical features of both entities overlap, the distinction between them can be very difficult. However, differentiation is essential for the treatment decision, since early plasma exchange dramatically reduces mortality in haemolytic uraemic syndrome not associated with diarrhoea. An increasing number of genetic causes of this pathology have been described and may be very useful in differentiating it from thrombotic microangiopathy due to other aetiologies. Despite advances in the understanding of the pathophysiology of haemolytic uraemic syndrome not associated with diarrhoea, the management often remains empirical. We describe a patient with simultaneous microangiopathic haemolytic anaemia, thrombocytopaenia and severe hypertension managed in the acute period of illness with plasma exchange.
- Pyruvate Dehydrogenase Complex Deficiency: Updating the Clinical, Metabolic and Mutational Landscapes in a Cohort of Portuguese PatientsPublication . Pavlu-Pereira, H; Silva, MJ; Florindo, C; Sequeira, S; Ferreira, AC; Duarte, S; Rodrigues, AL; Janeiro, P; Oliveira, A; Gomes, D; Bandeira, A; Martins, E; Gomes, R; Soares, S; Tavares de Almeida, I; Vicente, JB; Rivera, IBackground: The pyruvate dehydrogenase complex (PDC) catalyzes the irreversible decarboxylation of pyruvate into acetyl-CoA. PDC deficiency can be caused by alterations in any of the genes encoding its several subunits. The resulting phenotype, though very heterogeneous, mainly affects the central nervous system. The aim of this study is to describe and discuss the clinical, biochemical and genotypic information from thirteen PDC deficient patients, thus seeking to establish possible genotype-phenotype correlations. Results: The mutational spectrum showed that seven patients carry mutations in the PDHA1 gene encoding the E1α subunit, five patients carry mutations in the PDHX gene encoding the E3 binding protein, and the remaining patient carries mutations in the DLD gene encoding the E3 subunit. These data corroborate earlier reports describing PDHA1 mutations as the predominant cause of PDC deficiency but also reveal a notable prevalence of PDHX mutations among Portuguese patients, most of them carrying what seems to be a private mutation (p.R284X). The biochemical analyses revealed high lactate and pyruvate plasma levels whereas the lactate/pyruvate ratio was below 16; enzymatic activities, when compared to control values, indicated to be independent from the genotype and ranged from 8.5% to 30%, the latter being considered a cut-off value for primary PDC deficiency. Concerning the clinical features, all patients displayed psychomotor retardation/developmental delay, the severity of which seems to correlate with the type and localization of the mutation carried by the patient. The therapeutic options essentially include the administration of a ketogenic diet and supplementation with thiamine, although arginine aspartate intake revealed to be beneficial in some patients. Moreover, in silico analysis of the missense mutations present in this PDC deficient population allowed to envisage the molecular mechanism underlying these pathogenic variants. Conclusion: The identification of the disease-causing mutations, together with the functional and structural characterization of the mutant protein variants, allow to obtain an insight on the severity of the clinical phenotype and the selection of the most appropriate therapy.
- Rare Case of Sarcomatoid Squamous Cell Carcinoma Arising in an Ovarian Mature TeratomaPublication . Sousa Pedrosa, I; Alpendre, F; Sousa, R; Raposo Dinis, S; Gomes, DAlthough mature cystic teratoma (MCT) is benign, malignant transformation (MT) occurs in ∼ 1% to 2% of all cases, and usually consists of squamous cell carcinoma (SCC), which accounts for ∼ 80% of the cases. Spindle-cell (sarcomatoid) carcinoma (SCSC) is an uncommon type of SCC, comprising up to 3% of all cases. The lack of characteristic symptoms and specific imaging findings may lead to preoperative misdiagnosis. Moreover, the clinicopathologic characteristics, the treatment, the prognostic factors and the mechanism of MT have not yet been well understood due to the rarity of such tumors, especially in women of reproductive age. The authors present a case of a 34-year-old patient with 14 weeks of gestation who was diagnosed with an adnexal mass suggestive of ovarian teratoma. A laparoscopy salpingo-oophorectomy was performed after 6 months of delivery, and the histological exam revealed a sarcomatoid SCC in the MCT.