Diogo Ribeiro

  • Citations Per Year
Learn More
In this work, the influence of imidazolium ionic liquids (ILs) on bio-chemical parameters that influence the in vivo behavior of nimesulide was evaluated. In this context, the binding of nimesulide to human serum albumin (HSA), in IL media, was studied. In parallel, the evaluation of the interaction of drug-IL systems, with micelles of(More)
Unverricht-Lundborg disease is the most common form of progressive myoclonic epilepsy (PME). It is due to cystatin B gene (CSTB) mutations. Several mutations in CSTB gene have been published, but few in homozygosity. We describe a patient with a new splicing alteration. Mutation Gln22Gln leads to abnormal splicing and partial inclusion of intronic sequence.(More)
Cystatin B (CSTB) gene mutations cause Unverricht-Lundborg disease (ULD), a rare form of myoclonic epilepsy. The previous identification of a Portuguese patient, homozygous for a unique splicing defect (c.66G > A; p.Q22Q), provided awareness regarding the existence of variant forms of ULD. In this work we aimed at the characterization of this mutation at(More)
Tay-Sachs disease is a rare autosomal recessive neurodegenerative disorder that results from mutations in the HEXA gene, leading to β-hexosaminidase A (HexA) α subunit deficiency. An unusual variant of Tay-Sachs disease is known as the B1 variant. Previous studies indicated that, in northern Portugal, this is not only the most common variant but also one of(More)
Chitotriosidase is an enzyme secreted by activated macrophages and a useful biomarker in several lysosomal and nonlysosomal diseases. However, chitotriosidase gene (CHIT1) mutations may lead to inaccuracy in the significance of this biomarker. Reports on the molecular spectrum of genetic variation in chitotriosidase are rare, and this is one of the few that(More)
aSchool of Engineering, Polytechnic of Porto, Rua Dr. Bernardino de Almeida 431, 4200-072 Porto, Portugal; bFaculty of Engineering, University of Porto, Rua Dr. Roberto Frias, 4200-465 Porto, Portugal; cBATir – Structural and Material Computational Mechanics, Université Libre de Bruxelles, Avenue Franklin Roosevelt 50, 1000 Brussels, Belgium; dInstitute of(More)
0141-0296/$ see front matter 2012 Elsevier Ltd. A http://dx.doi.org/10.1016/j.engstruct.2012.03.013 ⇑ Corresponding author. Tel.: +351 22 508 1901; fa E-mail addresses: drr@isep.ipp.pt (D. Ribeiro), r rdelgado@fe.up.pt (R. Delgado), maik.brehm@ulb.ac.be uni-weimar.de (V. Zabel). This article describes the calibration of the numerical model of a(More)
BACKGROUND The ascertainment of mutation frequencies in the general population may have impact on the population's wellbeing and respective healthcare services. Furthermore, it may help define which approaches will be more effective for certain patients based on the genetic cause of disease. AIM OF THE STUDY Determine the frequency of three mutations,(More)
This paper describes and evaluates the experience of the Civil Engineering Department of ISEP to promote academic internships in the Civil Engineering Master course. Special emphasis is given to the creation and promotion of a list of companies of the sector, providing internships for the students. Some advantages of this initiative from the perspective of(More)
This paper presents an innovative platform that permits the aggregation of multiple e-mail and accounts, to make the day to day handling of e-mail messages more manageable and pleasant. The new product illustrates a launching supported by low level of investment and the search for innovation based in the finding of an unexplored need in the fast moving of(More)