Search results for "Frames"
showing 10 items of 265 documents
Hunter disease before and during enzyme replacement therapy.
2011
Mucopolysaccharidosis type II (Hunter disease) is a lysosomal storage disease attributable to X-linked deficiency of the enzyme α-L-iduronate-sulfatase. Because of this deficiency, glycosaminoglycanes accumulate in various tissues and body fluids. We describe three patients representing the broad spectrum of Hunter disease and their response to enzyme replacement therapy. Patient 1 did not manifest central nervous system involvement, patient 2 manifested moderate neurologic disease, and patient 3 had already manifested a severe neurologic course during early infancy. In all patients, improvements in visceral organ size, physical capacity, and gastrointestinal functioning were reported. More…
Rubinstein–Taybi syndrome 2 with cerebellar abnormality and neural tube defect
2019
Rubinstein-Taybi syndrome (RSTS) is a rare dominant disorder with intellectual disability, postnatal growth deficiency, and multiple congenital anomalies. Approximately 50-70% of the patients have a mutation in the CREBBP gene (RSTS1) and 5-10% display an EP300 gene mutation (RSTS2). Craniospinal abnormalities such as microcranium, scoliosis, and lordosis are frequent findings in RSTS1, but malformations of the brain or spinal cord are seen only occasionally. Here, we report on a 3-year-old boy with facial abnormalities of RSTS, broad thumbs and halluces, developmental delay, autistic features, cerebellar underdevelopment, and a neural tube defect. Molecular diagnostic of the CREBBP and EP3…
A semi-empirical stress-strain model for equivalent strut fiber-section modeling of infilled frames
2017
Infill-frame interaction is commonly modeled by means of equivalent strut macro-models. The main difficulty in using this phenomenological approach is to properly calibrate a force-displacement curve for the struts, as this depends not only on the geometrical and mechanical properties, but more specifically on the different potential damage mechanisms which may occur for the infill-frame system subject to lateral forces. If fiber-section elements are used as diagonal struts, the force-displacement curve is substituted by a stress-strain law. In both cases, the attribution of the inelastic law of the struts, based on a mechanical approaches, is not valid in general, as mechanical approaches …
EVALUATION OF FRAGILITY OF INFILLED FRAME STRUCTURES SUBJECT AFTERSHOCKS BY MEANS OF DOUBLE INCREMENTAL DYNAMIC ANALYSIS APPROACH
2018
The paper investigates the role of masonry infill walls on the seismic fragility of reinforced concrete structures subject to mainshock/aftershock sequences. An assessment framework aimed at determining aftershock fragility curves of bare frames and infilled frames is presented. The framework is based on a Double Incremental Dynamic Analysis (D-IDA) approach, which provides the adoption of ground motions defined by combining a fixed intensity mainshock with a set of variable intensity aftershocks. Mainshock (MS) intensity is scaled several times and combined with the same set of aftershocks (AS). Chord-rotation and shear limit states are specifically defined to consider the influence of mas…
Macroelement Model for In-Plane and Out-of-Plane Responses of Masonry Infills in Frame Structures
2018
A new macroelement model is presented in this paper for the simulation of the in-plane (IP) and out-of-plane (OOP) response of infilled frames subjected to seismic actions. The model consists of two diagonal, one horizontal, and one vertical struts. Each strut is represented by two fiber-section beam-column elements. The model is able to capture the arching action of the wall under an OOP load as well as the interaction between the IP and OOP actions. The proposed modeling approach is sufficiently simple and efficient that it can be used for the static or dynamic analysis of an entire structural system. An experimental validation has been carried out. A further numerical study performed wit…
Metal frame as local protection of superconducting films from thermomagnetic avalanches
2016
Thermomagnetic avalanches in superconducting films propagating extremely fast while forming unpredictable patterns, represent a serious threat for the performance of devices based on such materials. It is shown here that a normal-metal frame surrounding a selected region inside the film area can provide efficient protection from the avalanches during their propagation stage. Protective behavior is confirmed by magneto-optical imaging experiments on NbN films equipped with Cu and Al frames, and also by performing numerical simulations. Experimentally, it is found that while conventional flux creep is not affected by the frames, the dendritic avalanches are partially or fully screened by them…
Symplectic Applicability of Lagrangian Surfaces
2009
We develop an approach to affine symplectic invariant geometry of Lagrangian surfaces by the method of moving frames. The fundamental invariants of elliptic Lagrangian immersions in affine symplectic four-space are derived together with their integrability equa- tions. The invariant setup is applied to discuss the question of symplectic applicability for elliptic Lagrangian immersions. Explicit examples are considered.
Lineage diversification and recombination in type-4 human astroviruses.
2013
Abstract Human astroviruses (HAstVs) are important enteric pathogens and can be classified genetically and antigenically into eight types. During surveillance of HAstVs in Italy, type-4 HAstVs were detected only sporadically and found to cluster into two distinct genetic groups. Upon sequence analysis of the 3′ end of the polymerase gene (ORF1b) and of the full-length ORF2, the 2008 type-4 HAstV strains were characterised as a novel ORF2 genetic lineage, designated as 4c. The 2008 type-4 HAstVs also shared the ORF1b gene with similar HAstV-4c strains detected globally, thus displaying a conserved ORF1b/ORF2 asset. By interrogation of the databases, this novel lineage 4c accounted for 60.8% …
Evidence for recombination between the pandemic GII.4 norovirus strains New Orleans 2009 and Sydney 2012
2013
ABSTRACT During 2012, a novel pandemic GII.4 norovirus variant, Sydney 2012, emerged worldwide. A signature of the variant was a GII.Pe ORF1, in association with GII.4 Apeldoorn 2008-like ORF2-ORF3 genes. We report the detection of recombinant GII.4 Sydney 2012 strains, possessing the ORF1 gene of the former pandemic variant New Orleans 2009.
Genetic heterogeneity and recombination in human type 2 astroviruses
2012
ABSTRACT Novel lineages of human astrovirus (HAstV) types 2, 2c, and 2d have been identified. Upon sequencing of the 3′ end of the genome, the type 2c and 2d HAstVs were found to be open reading frame 1b (ORF1b)-ORF2 recombinant, with ORF1b being derived from type 3 and type 1 HAstVs, respectively. An ORF2 interlineage recombinant strain, 2c/2b, was also identified.