Publications by authors named "Fabio Fernandez"

Article Synopsis
  • - This study examines whether lower doses of anti-PD(L)1 agents are as effective as the standard doses for treating patients with solid tumors at a Brazilian hospital, aiming to highlight cost-effectiveness.
  • - A total of 71 patients were analyzed, comparing efficacy outcomes such as clinical overall response rate, progression-free survival, and overall survival between those receiving low-dose (LD) and conventional-dose (CD) treatments.
  • - Findings revealed no significant differences in treatment outcomes between LD and CD groups, suggesting that lower doses could provide a more accessible treatment option worth further investigation in future randomized trials.
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5q31.3 microdeletion syndrome is characterized by neonatal hypotonia, encephalopathy with or without epilepsy, and severe developmental delay, and the minimal critical deletion interval harbors three genes. We describe 11 individuals with clinical features of 5q31.

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Spinocerebellar ataxia type 2 typically presents in adulthood with progressive ataxia, dysarthria, tremor, and slow saccadic eye movements. Childhood-onset spinocerebellar ataxia type 2 is rare, and only the infantile-onset form has been well characterized clinically. This article describes a girl who met all developmental milestones until age 3(1/2) years, when she experienced cognitive regression that preceded motor regression by 6 months.

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