Molecular genetics of intellectual disability

The goal of this chapter is to review the current knowledge of the genetic causes of intellectual disability, focusing on alterations at the chromosomal and single gene level, with particular mention to the new technological developments, including array technologies and next-generation sequencing, which allowed an enormous increase in yield from genetic studies. The cellular and physiological pathways that seem to be most affected in intellectual disability will also be addressed. Finally, a brief analysis of the contribution of the genetically modified animal models for the study of the pathogenesis of intellectual disability and for the development and testing of novel therapeutic approaches, with unexpectedly good results, previously thought to be impossible to achieve. The chapter will close with some considerations on the relevance and future perspectives of genetic testing in patients with intellectual disability

Protein intake and obesity in schoolchildren

[resumo]Resumo de comunicação apresentada em: 16th European Congress on Obesity - ECO 2008; 2008 Mai 14-17; Genebra, Suíça

Verification of Magnitude and Phase Responses in Fixed-Point Digital Filters

In the digital signal processing (DSP) area, one of the most important tasks is digital filter design. Currently, this procedure is performed with the aid of computational tools, which generally assume filter coefficients represented with floating-point arithmetic. Nonetheless, during the implementation phase, which is often done in digital signal processors or field programmable gate arrays, the representation of the obtained coefficients can be carried out through integer or fixed-point arithmetic, which often results in unexpected behavior or even unstable filters. The present work addresses this issue and proposes a verification methodology based on the digital-system verifier (DSVerifier), with the goal of checking fixed-point digital filters w.r.t. implementation aspects. In particular, DSVerifier checks whether the number of bits used in coefficient representation will result in a filter with the same features specified during the design phase. Experimental results show that errors regarding frequency response and overflow are likely to be identified with the proposed methodology, which thus improves overall system's reliability

Caracterização química dos estercos de suínos e de bovinos de leite.

Projeto: 11.11.11.111

Prevalence, characteristics, and impact of spinal and lower limb recurrent pain at age 13

Objectives: To compare spinal and lower limb pain in adolescents regarding prevalence, characteristics, causes, and impact. Methods: A descriptive cross-sectional study was conducted in 13-year-old adolescents (female n=2210; male n=2353) from the Portuguese Generation XXI birth cohort. Data were collected between 2018 and 2020 through personal interviews by applying the Luebeck Pain Questionnaire. The pain features examined in each anatomical location (back and lower limb) were recurrence, duration, frequency, intensity, perceived causes, and impact on school and leisure activities. Frequencies and the Chi-square test were used. Results: Questionnaires from 4563 adolescents were analysed, 57.9% had pain in the last three months (main pain in the spine: 11.6%; main pain in the lower limb: 29.0%). Of those, 69.4% and 62.4% reported recurrent pain in the spine and lower limb, respectively. Recurrent pain was more frequent in girls than in boys (spine: 80.0%; 57.0%; lower limb: 70.4%; 58.1% respectively). Pain lasted more than three months in most adolescents (spine: about 60%; lower limb: above 50%); frequency was similarly high in both regions and both sexes (girls: 47.0%; boys: 45.7% in the spine; girls: 45.7%; boys: 40.3% in the lower limb); intensity was rated as high by girls (spine: 45.5%; lower limb: 47.3%) and moderate by boys (spine: 42.0%; lower limb: 41.0%). The leading causes of pain were daily living activities, both for the spine (girls: 65.9%; boys: 76.5%) and the lower limb (girls: 62.2%; boys: 72.1%). Psychosocial causes were the second most common cause of spinal pain (girls: 25.0%; boys: 21.0%). Other causes of lower limb pain were traumatic (girls: 25.5%; boys: 16.6%) and physical factors (girls: 20.7%; boys: 23.8%). Absences from school (girls: 11.7%; boys: 4.8%) and restrictions of leisure activities (girls: 20.7%; boys: 25.2%) were more related to pain in the lower limb. Conclusion: More than half of the adolescents reported spinal or lower limb recurrent pain, which presents a higher frequency, higher intensity, and longer duration in the spine. However, lower limb pain led to more concurrent limitations. © 2024, Sociedade Portuguesa de Reumatologia. All rights reserved

Presença de salmonella no solo e nas fezes de suínos e bovinos de leite em propriedades rurais da microbacia do rio Pinhal.

Projeto/Plano de Ação: 02.06.60.400-02

Resistance Curves in the Tensile and Compressive Longitudinal Failure of Composites

This paper presents a new methodology to measure the crack resistance curves associated with fiber-dominated failure modes in polymer-matrix composites. These crack resistance curves not only characterize the fracture toughness of the material, but are also the basis for the identification of the parameters of the softening laws used in the analytical and numerical simulation of fracture in composite materials. The method proposed is based on the identification of the crack tip location by the use of Digital Image Correlation and the calculation of the J-integral directly from the test data using a simple expression derived for cross-ply composite laminates. It is shown that the results obtained using the proposed methodology yield crack resistance curves similar to those obtained using FEM-based methods in compact tension carbon-epoxy specimens. However, it is also shown that the Digital Image Correlation based technique can be used to extract crack resistance curves in compact compression tests for which FEM-based techniques are inadequate

Avaliação da presença de salmonella no rio Pinhal associada a solo e fezes de suínos e bovinos de leite em Concórdia, SC.

Projeto: 11.11.11.111

Expression, purification and in vitro biological activity from human recombinant BMP-2 produced by a novel approach

Bone morphogenetic proteins have promoted great biomedical interest due to their ability in inducing new bone formation when used as powerful osteoinductive components of several late-stage bone grafting products. Recombinant human bone morphogenetic protein-2 (rhBMP-2) is obtained from mammalian cell expressing systems in low amounts or from bacteria inclusion bodies after timeconsuming refolding methods. Thus, there is a need to establish novel approaches for producing rhBMP-2 in high yields by simple and cheap procedures.Portuguese Foundation for Science and Technolog y, FCT (PhD Grant to PC Bessa , SFRH/BD/17049/2004). This work was also partially supported by the European STREP HIPPOCRATES (NMP3 - CT - 2003 - 505758) and carried out under the scope of European NoE EXPERTISSUES (NMP3 - CT - 2004 - 500283).info:eu-repo/semantics/publishedVersio

Zero-mode analysis of quantum statistical physics

We present a unified formulation for quantum statistical physics based on the representation of the density matrix as a functional integral. We identify the stochastic variable of the effective statistical theory that we derive as a boundary configuration and a zero mode relevant to the discussion of infrared physics. We illustrate our formulation by computing the partition function of an interacting one-dimensional quantum mechanical system at finite temperature from the path-integral representation for the density matrix. The method of calculation provides an alternative to the usual sum over periodic trajectories: it sums over paths with coincident endpoints, and includes non-vanishing boundary terms. An appropriately modified expansion into Matsubara modes provides a natural separation of the zero-mode physics. This feature may be useful in the treatment of infrared divergences that plague the perturbative approach in thermal field theory.Comment: 9 pages, 5 figure