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- Lipidome plasticity in medium- and long-chain fatty acid oxidation disorders: Insights from dried blood spot lipidomicsPublication . Guerra, Inês; Rocha, Hugo; Moreira, Sónia; Gaspar, Ana; Ferreira, Ana C.; Santos, Helena; Rodrigues, Esmeralda; Castro-Chaves, Paulo; Melo, Tânia; Goracci, Laura; Domingues, Pedro; Moreira, Ana S.P.; Domingues, M. RosárioFatty acid (FA) oxidation disorders (FAOD) are characterized by accumulation of specific acylcarnitines (CAR)and FA and can lead to potentially severe complications. In this study, dried blood spots (DBS) combined with LC-MS lipidomics analysis were used to assess lipidome plasticity in medium-chain acyl-CoA dehydrogenase deficiency (MCADD), long-chain hydroxyacyl-CoA dehydrogenase deficiency (LCHADD), and very long-chain acyl-CoA dehydrogenase deficiency (VLCADD), compared to control (CT) individuals, for screening potential prognostic biomarkers. Statistically significant variations were found in CAR, biomarkers for FAOD diagnosis, but other lipid species showed variations depending on the FAOD. Common changes in all FAOD included a few phosphatidylcholine (PC) lipid species, notably an up-regulation of LPC 16:1, possibly associated with a higher risk of cardiovascular disease (CVD). In LCHADD and VLCADD, an up-regulation of odd-chain PC (PC 33:0, PC 35:4 and PC 37:4) was observed. VLCADD exhibited higher levels of odd-chain TG, while LCHADD showed an up-regulation of ceramide (Cer 41:2;O2). The increase in the Cer class has been found to be associated with neurodegeneration and may contribute to the risk of developing this condition in LCHADD. An upregulation of ether-linked PC lipid species, including plasmenyl (known as endogenous antioxidants), was observed in MCADD, possibly as a response to increased oxidative stress reported in this disorder. Overall, DBS combined with lipidomics effectively pinpoints the lipid plasticity in FAOD, highlighting potential specific biomarkers for disease prognosis that warrant further validation for their association with the development of FAOD comorbidities.
- A New World disease: Dual diagnostic challenges in travelers returning from Costa RicaPublication . Brazão, Cláudia; Borges-Costa, João; Antunes-Duarte, Sofia; Mancha, Dora; Sun, Lanyu; Marques, Tiago; Gargaté, Maria João; Vilares, Anabela; Reis, Tânia; de Vasconcelos, Pedro; Soares-de-Almeida, Luís; Filipe, PauloCutaneous diseases in returning travelers encompass a wide spectrum of etiologies and often pose diagnostic challenges. We present the cases of a 50-year-old man and a 57-year-old woman who presented with a 3-month history of erythematous, ulcerated plaques with well-defined elevated borders and a necrotic center on the lower limbs that began 3 weeks after returning from vacation in Costa Rica. Cutaneous biopsy revealed epidermal ulceration and extensive caseating granulomas throughout the full thickness of the dermis. Giemsa staining revealed no amastigotes. Microbiological examinations identified Leishmania braziliensis and excluded mycobacteria and fungi. The diagnosis of cutaneous Leishmaniasis was established. Owing to clinical severity and antimonial unavailability, the man was treated with liposomal amphotericin B. The woman underwent surgical excision of the single lesion, along with oral fluconazole. Complete resolution was documented in both patients. These cases, which posed diagnostic and therapeutic challenges, highlight that cutaneous leishmaniasis, in all its versatile and often perplexing presentations, is a parasitic infection that should always be considered in dermatologic patients returning from vacation in endemic countries.