Professor Sérgio Mascarenhas was a Brazilian researcher with a vast legacy. His work paved the way for new research possibilities by consolidating the use of innovation and transdisciplinary science. In Medicine, he proposed changes to what had previously been well-accepted concepts, and his contributions have influenced medical practices.
View Article and Find Full Text PDFBMC Med Genet
November 2017
Background: Townes-Brocks syndrome (TBS) is a rare autosomal dominant condition characterized by renal, anal, limb, and auditory abnormalities. TBS diagnosis can be challenging in settings where genetic analysis is not readily available. TBS traits overlap with those of Goldenhar and VACTERL syndromes.
View Article and Find Full Text PDFIntroduction: Friedreich's ataxia (FRDA) is the most common hereditary ataxia and thinning of the cervical spinal cord is a consistent observation in Magnetic resonance imaging (MRI), although neuropathological examination in FRDA reveals neuronal loss in gray matter (GM) nuclei and degeneration of white matter (WM) tracts in the spinal cord, brainstem and cerebellum. Using diffusion-tensor (DTI) imaging and tract-based spatial statistics (TBSS) we tested the hypothesis that WM damage in FRDA is more extensive than previously described and probably involves normal-appearing WM.
Methods: This transversal study included 21 genetically confirmed FRDA patients and seventeen healthy controls that underwent structural MRI of the brain on a 1.
Introduction: Juvenile systemic lupus erythematosus is more incident in female affecting different systems including the central nervous system. The aim of this study was to check the incidence of seizures and electroencephalographic features in these patients.
Method: It was analyzed all patients with juvenile systemic lupus erythematosus referred to the Pequeno Príncipe Hospital in Curitiba, PR, Brazil, in the year of 2007.