Darier disease (DD) is an uncommon autosomal dominant genodermatosis caused by mutations of the ATP2A2 gene, which encodes the sarcoplasmic/endoplasmic reticulum calcium-ATPase isoform 2 (SERCA2). Disfunction of this pump disturbs intracellular Ca2+ signaling, compromising keratinocyte differentiation and intercellular adhesion. Although many therapeutic modalities have been investigated, treatment of DD remain...
Introduction: Representing 0.03% of all tumors, paragangliomas (PGLs) are extremely rare. During the past 15 years, there has been a significant progress in the knowledge of the genetics of PGLs. Germline mutations in succinate dehy- drogenase (SDH) genes are the commonest genetic cause of PGL. Objective: Given the high clinical relevance of the SDH status, we aimed to evaluate the diagnostic and prognostic val...
INTRODUCTION: Occlusive disease of the visceral vessels, when complicated, may lead to a high mortality rate. Current data regarding the co-prevalence of atherosclerotic disease of the lower limbs and visceral vessels is scarce. The aim of this study was to analyze the prevalence of splanchnic and renal visceral occlusive disease in patients admitted for chronic lower limb ischemia (CLLI). METHODS: A cross-sect...
Made available in DSpace on 2022-04-28T19:47:00Z (GMT). No. of bitstreams: 0 Previous issue date: 2021-10-01; Introduction: Aortic graft infection remains a considerable clinical challenge, and it is unclear which variables are associated with adverse outcomes among patients undergoing partial resection. Methods: A retrospective, multi-institutional study of patients who underwent partial resection of infected ...
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Monkeypox is a zoonotic orthopoxvirus that incidentally causes disease in humans similar to smallpox, although with lower mortality. This virus is endemic to western and central Africa, with outbreaks in occidental countries related to exotic pet trade and international travel. Coincident immunity to monkeypox virus was previously achieved with vaccinia virus vaccination; however, eradicating smallpox and subse...
A 29-year-old woman, Fitzpatrick phototype II, with a personal history of atopy, presented with face and neck dermatitis lasting 6 months. During the past year, she worked as a nurse in a coronavirus disease 2019 (COVID-19)–dedicated ward of a tertiary hospital. The dermatitis had developed since she started wearing N95 masks. She referred to using two N95 masks, with similar symptoms: 3M Aura 9320+ N95 mask (3...
Background and aims: A dermal inflammatory infiltrate rich in eosinophils is a prominent histological feature of bullous pemphigoid (BP) and peripheral blood eosinophilia has been documented in 50-60% of BP patients. Nevertheless, the impact of circulating and dermal infiltrate eosinophil levels on BP remains poorly understood. The main objective of this work was to investigate the association of peripheral blo...
An outbreak of monkeypox has emerged, with more than 2000 cases confirmed across the globe. While this condition, caused by the Monkeypox virus, a member of the Orthopoxvirus genus, is usually considered a zoonosis, we may be facing a sexually transmissible infection (STI), with yet uncertain consequences. In Portugal, we are seeing many suspected cases a day, most of which have been confirmed. At our departmen...
Introduction/Objectives: Repair of post-dissection thoraco-abdominal aortic aneurysms (PD-TAAA) is a complex challenge. Choosing the correct approach to manage these aneurysms is not straightforward as both open and endovascular strategies are valid. Our aim was to analyze and compare the results of PD-TAAA treated by endovascular or open surgery. Methods: A seven-year (January-2013 and May-2020) single-center ...