Publications by authors named "Rodrigo D Fernandes"

Background: Adenosine deaminase-2 (ADA2) deficiency is a rare autosomal recessive autoinflammatory syndrome, typically presenting in young patients with a broad spectrum of phenotypes. These phenotypes usually include primary immune deficiencies, livedo reticularis, and hematological abnormalities. Visual loss associated with ADA2 deficiency is uncommon and, when it does occur, is often linked to major vascular involvement, such as occlusion of the ophthalmic arteries.

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Retinal complications in patients with inflammatory optic neuritis (ON) are generally related to post-infectious neuroretinitis and are considered uncommon in autoimmune/demyelinating ON, whether isolated or caused by multiple sclerosis (MS) or neuromyelitis optica spectrum disorder (NMOSD). More recently, however, cases with retinal complications have been reported in subjects positive for myelin oligodendrocyte glycoprotein (MOG) antibodies. We report a 53-year-old woman presenting with severe bilateral ON associated with a focal area of paracentral acute middle maculopathy (PAMM) in one eye.

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Background: Leukemic involvement of the eyes is rare, therefore, treatment relies on previous case reports. The treatment of ocular complications poses additional difficulties, because the eye is considered as a pharmacological "sanctuary" for patients with acute lymphoblastic leukemia (ALL). Therefore, radiotherapy is the main therapeutic choice; however, it might lead to many important side effects.

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Background: The investigation of ischemic stroke etiology is commonly limited to the heart and extracranial vessels. Nevertheless, the diagnosis of intracranial stenosis may carry important therapeutic implications. The aims of this study were to determine the prevalence and clinical predictors of intracranial atherosclerotic stenosis (ICAS) in a sample of patients with ischemic stroke.

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