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The relevance of the socio-emotional deficits in cerebral small vessels disease...

Silva, Ana Rita; Santos, Irina; Fernandes, Carolina R.; Silva, Cristiana; Pereira, Daniela J.; Galego, Orlando; Queiroz, Henrique

Background: Cerebral Small Vessels Disease (CSVD) is categorized in different forms, the most common being the sporadic form and a genetic variant – Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL). Amongst the most frequent clinical manifestations are the neuropsychological changes of cognitive, behavioral, and emotional nature, whose features are still under...


Nationwide Access to Endovascular Treatment for Acute Ischemic Stroke in Portugal

Dias, Mariana Carvalho; Reis, Ricardo Soares dos; Santos, João Vasco; Nunes, Ana Paiva; Ferreira, Patricia; Maia, Bruno; Fragata, Isabel; Reis, Joao

Introduction: Since the publication of endovascular treatment trials and European Stroke Guidelines, Portugal has re-organized stroke healthcare. The nine centers performing endovascular treatment are not equally distributed within the country, which may lead to differential access to endovascular treatment. Our main aim was to perform a descriptive analysis of the main treatment metrics regarding endovascular ...


Nationwide Access to Endovascular Treatment for Acute Ischemic Stroke in Portugal

Dias, Mariana Carvalho; dos Reis, Ricardo Soares; Santos, João Vasco; Nunes, Ana Paiva; Ferreira, Patricia; Maia, Bruno; Fragata, Isabel; Reis, Joao

Introduction: Since the publication of endovascular treatment trials and European Stroke Guidelines, Portugal has re-organized stroke healthcare. The nine centers performing endovascular treatment are not equally distributed within the country, which may lead to differential access to endovascular treatment. Our main aim was to perform a descriptive analysis of the main treatment metrics regarding endovascular ...

Date: 2022   |   Origin: Acta Médica Portuguesa

A Case of Deficiency of Adenosine Deaminase 2: 28 years of Diagnostic Challenges

Pardinhas, Clara; Santo, Gustavo; Escada, Luís; Rodrigues, Jorge; Almeida, Maria do Rosário; Alves, Rui; Salgado, Manuel B.

Deficiency of adenosine deaminase 2 (DADA2) is a unique monogenic autoinflammatory disease caused by autosomal recessive loss-of-function mutations in the CECR1 gene which presents as childhood-onset small- and medium-vessel vasculitis. Previously, many of these patients were misdiagnosed and thought to have clinical features of systemic polyarteritis nodosum, which negatively influenced its outcome, since TNF ...


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