3 documents found, page 1 of 1
Nijmegen breakage syndrome: The importance of follow-up
Leite,Sara; Lemos,Cláudia; Dias,Rita; Faria,Raquel; Marques,LauraAbstract Nijmegen breakage syndrome (NBS) is a rare genetic disorder caused by mutations in the NBN gene, which is inherited in an autosomal recessive pattern. The condition results in inadequate DNA repair and is characterized by immunodeficiency with recurrent sinopulmonary infections, increased radiosensitivity, and predisposition to malignancy, particularly of lymphoid origin. The main clinical feature is p...
Improvement of Central Nervous System Vasculitis in a Patient with Chronic Hepa...
Lima,Sérgio; Faria,Raquel; Nery,FilipeBackground: Neurosarcoidosis is a rare manifestation of hepatitis C virus (HCV) infection, mainly in patients exposed to interferon-based therapies. Although we are living in a new era of HCV treatment, there is still little data concerning the treatment of extrahepatic complications of the disease with direct antiviral agents, especially rare ones such as neurosarcoidosis. Summary: We present a rare case of ce...
Desempenho da matriz híbrida SiO2-quitosana na imobilização da lipase microbian...
Simões,Aline S; Mori,Rodrigo Y; Faria,Raquel; Castro,Heizir F. de; Mendes,Adriano ALipase from Candida rugosa was immobilized by covalent attachment on hybrid SiO2-chitosan obtained by sol-gel technique. A comparative study between free and immobilized lipase was provided in terms of pH, temperature, kinetic parameters and thermal stability on the olive oil hydrolysis. The pH and temperature for maximum activity shifted from 7.0 and 45 ºC for the free lipase to 7.5 and wide range of temperatu...