143 research outputs found

    Reliability analysis of I-section steel columns designed according to new Brazilian building codes

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    This paper presents an evaluation of the safety of I-section steel columns designed according to the new revision of the Brazilian code for design of steel buildings (NBR8800) and to the code for loads and safety of structures (NBR8681). The safety evaluation is based on structural reliability analysis of columns designed to comply with these codes, and on advanced (FE-based) analysis of actual column resistance. The effects of geometrical imperfections and residual stresses in column resistance are taken into account. The uncertainty in yield stress, elasticity modulus, geometrical imperfections and dead and live loads are considered in the reliability evaluation. Reliability indexes are obtained for several column configurations. These indexes reflect the safety of the columns designed according to the two building codes. Reliability indexes are compared with target reliability indexes used in calibration of the ANSI code and with indexes proposed in the new EUROCODE.(CNPq) Brazilian Council for Research and Developmen

    Hyperbolic manifolds with a large number of systoles

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    In this article, for any n4n\geq 4 we construct a sequence of compact hyperbolic nn-manifolds {Mi}\{M_i\} with number of systoles at least as vol(Mi)1+13n(n+1)ϵ\mathrm{vol}(M_i)^{1+\frac{1}{3n(n+1)}-\epsilon} for any ϵ>0\epsilon>0. In dimension 3, the bound is improved to vol(Mi)43ϵ\mathrm{vol}(M_i)^{\frac{4}{3}-\epsilon}. These results generalize previous work of Schmutz for n=2n=2, and D\'oria-Murillo for n=3n=3 to higher dimensions.Comment: minor changes to include referee suggestion

    Late-onset Lennox-Gastaut syndrome as a phenotype of 15q11.1q13.3 duplication

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    The clinical symptoms associated with chromosome 15q duplication syndrome manifest through a heterogeneous group of symptoms characterised by hypotonia, delay in motor skills and language development, cognitive and learning disabilities, autism spectrum disorder and refractory epilepsy. The late development of Lennox-Gastaut syndrome in patients with 15q11q13 duplication is a possibility that physicians should be aware of. We report the case of a 27-year-old man with a neurodevelopmental syndrome due to a 15q duplication, with intellectual disability, psychiatric disturbances, and an epileptic phenotype diagnosed as late-onset Lennox-Gastaut syndrome

    Combined tools for Surgical Case Packages contents and cost optimization: a preliminary study

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    This paper presents a solution proposal based on mathematical and statistical tools to optimize Surgical Case Packages of an Operating Room (OR) in a Portuguese public hospital that it is the most complex environment in a hospital. In this particular hospital, more than 27000 surgeries/year are performed, employing, sometimes, misadjusted composition of standard surgical packages and non-optimized grouping of surgical instruments. Problem consequences are, among others, high transport of various surgical cases packages; high number of open cases and delays in surgical times following surgery. These type of problems are waste that do not add value to the service in the context of Lean Healthcare and must be eliminated using the most suitable tools. After the analysis, different tools were used: combinatorial analysis to optimize surgical cases composition and statistical analysis to identify the instruments usage and surgical basic case patterns. An optimization model was developed which produced a sterilizing initial solution of 135.24€. By identifying the most commonly employed instruments, it was concluded that some instruments have never been used and others rarely and some patterns were identified. The results achieved were based on minor sample and in a form of data collection that needs some adjustment

    Inv21p12q22del21q22 and intellectual disability

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    Chromosomal rearrangements are common in humans. Pericentric inversions are among the most frequent aberrations (1-2%). Most inversions are balanced and do not cause problems in carriers unless one of the breakpoints disrupts important functional genes, has near submicroscopic copy number variants or hosts "cryptic" complex chromosomal rearrangements. Pericentric inversions can lead to imbalance in offspring. Less than 3% of Down syndrome patients have duplication as a result of parental pericentric inversion of chromosome 21. We report a family with an apparently balanced pericentric inversion of chromosome 21. The proband, a 23-year-old female was referred for prenatal diagnosis at 16weeks gestation because of increased nuchal translucency. She has a familial history of Down's syndrome and moderate intellectual disability, a personal history of four spontaneous abortions and learning difficulties. Peripheral blood and amniotic fluid samples were collected to perform proband's and fetus' cytogenetic analyses. Additionally, another six family members were evaluated and cytogenetic analysis was performed. Complementary FISH and MLPA studies were carried out. An apparent balanced chromosome 21 pericentric inversion was observed in four family members, two revealed a recombinant chromosome 21 with partial trisomy, and one a full trisomy 21 with an inverted chromosome 21. Array CGH analysis was performed in the mother and the brother's proband. MLPA and aCGH studies identified a deletion of about 1.7Mb on the long arm of inverted chromosome 21q22.11. We believe the cause of the intellectual disability/learning difficulties observed in the members with the inversion is related to this deletion. The recombinant chromosome 21 has a partial trisomy including the DSCR with no deletion. The risk for carriers of having a child with multiple malformations/intellectual disability is about 30% depending on whether and how this rearrangement interferes with meiosis

    Prevalence of 35delG and Met34Thr GJB2 variants in Portuguese samples

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    Objective: To estimate the prevalence of 35delG and Met34Thr variants in a Portuguese children's community sample and to compare these frequencies with nonsyndromic hearing-loss patients. Methods: 502 children were randomly selected among the 8647 participants of the Portuguese birth cohort Generation XXI, and screened for Met34Thr and 35delG variants in the GJB2 gene. These variants were also studied on 89 index-cases, observed in the Clinic of “Hereditary Hearing-loss” in Saint John's Hospital Center, presenting a mild to profound nonsyndromic hearing-loss. Results: Among the 502 children from Generation XXI, 10 were heterozygous for the 35delG variant (95% Confidence Interval 1.03–3.68) and 1 homozygous (95% Confidence Interval 0.01–1.24). Other 10 children presented heterozygosity for the Met34Thr variant (95% Confidence Interval 1.03–3.68). No homozygous for the Met34Thr or compound heterozygotes (35delG/Met34Thr) were found. In the total of 89 nonsyndromic hearing-loss patients, 5 (95% Confidence Interval 2.11–12.8) were heterozygous and 7 (95% Confidence Interval 3.61–15.6) were homozygous for the 35delG variant. The Met34Thr variant was found in 4 patients, 2 heterozygous (95% Confidence Interval 0.13–8.31) and 2 homozygous (95% Confidence Interval 0.13–8.31). Conclusion: The carrier frequency of 35delG and Met34Thr variants in a Portuguese sample was 1 in 50. Our data suggests that the 35delG mutation has an association with deafness. For the Met34Thr variant, no association was observed. However, Met34Thr seemed to conform to an additive model in hearing-loss

    Combined tools for surgical case packages contents and cost optimization: a preliminary study

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    This paper presents a solution proposal based on mathematical and statistical tools to optimize Surgical Case Packages of an Operating Room (OR) in a Portuguese public hospital that it is the most complex environment in a hospital. In this particular hospital, more than 27000 surgeries/year are performed, employing, sometimes, misadjusted composition of standard surgical packages and non-optimized grouping of surgical instruments. Problem consequences are, among others, high transport of various surgical cases packages; high number of open cases and delays in surgical times following surgery. These type of problems are waste that do not add value to the service in the context of Lean Healthcare and must be eliminated using the most suitable tools. After the analysis, different tools were used: combinatorial analysis to optimize surgical cases composition and statistical analysis to identify the instruments usage and surgical basic case patterns. An optimization model was developed which produced a sterilizing initial solution of 135.24€. By identifying the most commonly employed instruments, it was concluded that some instruments have never been used and others rarely and some patterns were identified. The results achieved were based on minor sample and in a form of data collection that needs some adjustments.The authors want to acknowledge the Portuguese public hospital involved and to the ESGI initiative. The authors also would like to express their acknowledgments to national funds by COMPETE: POCI-01-0145-FEDER-007043 and FCT - Fundacao para a Ciencia e Tecnologia within the Project Scope: UID/CEC/00319/2013.info:eu-repo/semantics/publishedVersio

    Alterações ecocardiográficas causadas pelo uso da romifidina em potros árabes

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