Browsing by Author "Ferreira, Sara"
Now showing 1 - 2 of 2
Results Per Page
Sort Options
- Causa moderna de uma dermatose antiga – Eritema ab ignePublication . Ferreira, Sara; Mota, Lourdes; Tellechea, Óscar; Figueiredo, Nuno; Mascarenhas, Rosaermatosis, caused by prolonged and repeated exposure to heat. Multiple heat sources have been reported to cause this condition, as fire or stove in proximity with the skin. Case report: We report a case of a diabetic teenager with erythema ab igne induced by a laptop computer. Conclusions: Laptop induced erythema ab igne is an underdiagnosed clinical entity. In the future maybe it will be more frequent due to the improper use of these devices. The possible irreversibility of skin lesions and the potential severe complications reinforce the need to be aware for this disease.
- Leigh Syndrome Spectrum: A Portuguese Population Cohort in an Evolutionary Genetic EraPublication . Baldo, Manuela Schubert; Nogueira, Célia; Pereira, Cristina; Janeiro, Patrícia; Ferreira, Sara; Lourenço, Charles M.; Bandeira, Anabela; Martins, Esmeralda; Magalhães, Marina; Rodrigues, Esmeralda; Santos, Helena; Ferreira, Ana Cristina; Vilarinho, LauraMitochondrial diseases are the most common inherited inborn error of metabolism resulting in deficient ATP generation, due to failure in homeostasis and proper bioenergetics. The most frequent mitochondrial disease manifestation in children is Leigh syndrome (LS), encompassing clinical, neuroradiological, biochemical, and molecular features. It typically affects infants but occurs anytime in life. Considering recent updates, LS clinical presentation has been stretched, and is now named LS spectrum (LSS), including classical LS and Leigh-like presentations. Apart from clinical diagnosis challenges, the molecular characterization also progressed from Sanger techniques to NGS (next-generation sequencing), encompassing analysis of nuclear (nDNA) and mitochondrial DNA (mtDNA). This upgrade resumed steps and favored diagnosis. Hereby, our paper presents molecular and clinical data on a Portuguese cohort of 40 positive cases of LSS. A total of 28 patients presented mutation in mtDNA and 12 in nDNA, with novel mutations identified in a heterogeneous group of genes. The present results contribute to the better knowledge of the molecular basis of LS and expand the clinical spectrum associated with this syndrome.