17 research outputs found

    Pontine tegmental cap dysplasia: developmental and cognitive outcome in three adolescent patients

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    Pontine Tegmental Cap Dysplasia (PTCD) is a recently described, rare disorder characterized by a peculiar cerebellar and brainstem malformation. Nineteen patients have been reported to date, of which only one in the adolescent age, and data on the clinical, cognitive and behavioural outcome of this syndrome are scarce

    A Tunable collimator for precision irradiation with ion microbeams

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    We describe a cheap yet effective beam collimation system capable of providing square apertures from 1 mm down to about 10 μm. The tunable part is driven by two manual micrometers, one controlling the shape the other the size, which could be immediately replaced by high precision stepping motors should remote control be needed. The aperture was calibrated by means of a simple home-made laser diffraction system which allows a considerable precision. The collimation system was used to produce low-divergence beams of oxygen and protons, in order to test the position sensitivity of a silicon microstrip telescope detector

    Molecular auxetic polymer of intrinsic microporosity via conformational switching of a cavitand crosslinker

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    Auxetics are materials characterized by a negative Poisson’s ratio (NPR), an uncommon mechanical behavior corresponding to a transversal deformation tendency opposite to the traditional materials. Here we present the first example of a 3D synthetic molecular auxetic polymer, obtained by embedding a conformationally expandable cavitand as crosslinker into a rigid polymer of intrinsic microporosity (PIM). The rigidity and microporosity of the polymeric matrix are pivotal to maximize the expansion effect of the cavitand that, under mechanical stress, can assume two different conformations: a compact vase one and an extended kite form. The auxetic behavior and the corresponding NPR of the proposed material is predicted by a specific micromechanical model that considers the cavitand volume expansion ratio, the fraction of the cavitand crosslinker in the polymer, and the mechanical characteristics of the polymer backbone. The reversible auxetic behavior of the material is experimentally verified via Digital Image Correlation technique (DIC) performed during the mechanical tests on films obtained by blending the auxetic crosslinked polymer with pristine PIM. Two specific control experiments prove that the mechanically driven conformational expansion of the cavitand crosslinker is the sole responsible of the observed NPR of the polymer

    Molecular Auxetic Polymer of Intrinsic Microporosity via Conformational Switching of a Cavitand Crosslinker

    No full text
    Auxetics are materials characterized by a negative Poisson’s ratio (NPR), an uncommon mechanical behavior corresponding to a transversal deformation tendency opposite to the traditional materials. Here, the first example of a synthetic molecular auxetic polymer obtained by embedding a conformationally expandable cavitand as a crosslinker into a rigid polymer ofintrinsic microporosity (PIM) is presented. The rigidity and microporosity ofthe polymeric matrix are pivotal to maximizing the expansion effect of the cavitand that, under mechanical stress, can assume two different conformations: a compact vase one and an extended kite form. The auxetic behavior and the corresponding NPR of the proposed material is predicted by a specific micromechanical model that considers the cavitand volume expansion ratio, the fraction of the cavitand crosslinker in the polymer, and the mechanical characteristics of the polymer backbone. The reversible auxetic behavior of the material is experimentally verified via the digital image correlation technique performed during the mechanical tests on films obtained by blending the auxetic crosslinked polymer with pristine PIM. Two specific control experiments prove that the mechanically driven conformational expansion of the cavitand crosslinker is the sole responsible for the observed NPR of the polymer

    Filaggrin mutations and Molluscum contagiosum skin infection in patients with atopic dermatitis

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    Background: Although mutations in the filaggrin (FLG) gene have been reported to predispose patients with atopic dermatitis (AD) skin infection susceptibility, to date, the data reported in the literature are still controversial.& para;& para;Objective: To evaluate the role of FLG polymorphisms expression and risk of developing a concomitant Molluscum contagiosum sustained skin infection in the pediatric population with AD.& para;& para;Methods: A total of 100 children with AD and 97 healthy children were enrolled. AD was diagnosed and assessed according to the validated European Task Force on Atopic Dermatitis. DNA samples of patients were analyzed for allelic variants in the promoter and coding exon of FLG. Genotyping was performed with polymerase chain reaction amplification and direct sequencing.& para;& para;Results: Sixteen FLG variants have been detected in 29% of patients with AD: 2 synonymous (rs79808464 and rs116222149), 12 missense (rs11584340, rs113136594, rs145828067, rs374910442, rs747005144, rs145627745, rs144209313, rs74129443, rs192455877, rs150957860, rs138055273, rs147472105), 1 stop gained (rs183942200), and 1 frameshift (rs 558269137). In contrast, only 13% of the control group reported FLG mutations (22 heterozygous variants). In addition, the age at disease onset correlated significantly with FLG variants (P < .001). In addition, the AD with FLG gene variants (rs145627745, rs79808464, rs150957860, rs145828067, rs747005144, rs374910442, rs138055273, rs183942200, rs11584340, and rs113136594) reported moderate to severe Scoring Atopic Dermatitis scores. Finally, the AD group and the AD plus M contagiosum skin infection group had a significant association with FLG mutations when compared with the control group (P < .01).& para;& para;Conclusion: FLG mutations are associated with early onset of AD, more severe clinical course of disease, and a significantly increased risk of M contagiosum sustained skin infection

    Metabolic Signature of Energy Metabolism Alterations and Excess Nitric Oxide Production in Culture Media Correlate with Low Human Embryo Quality and Unsuccessful Pregnancy

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    Notwithstanding the great improvement of ART, the overall rate of successful pregnancies from implanted human embryos is definitely low. The current routine embryo quality assessment is performed only through morphological criteria, which has poor predictive capacity since only a minor percentage of those in the highest class give rise to successful pregnancy. Previous studies highlighted the potentiality of the analysis of metabolites in human embryo culture media, useful for the selection of embryos for implantation. In the present study, we analyzed in blind 66 human embryo culture media at 5 days after in vitro fertilization with the aim of quantifying compounds released by cell metabolism that were not present as normal constituents of the human embryo growth media, including purines, pyrimidines, nitrite, and nitrate. Only some purines were detectable (hypoxanthine and uric acid) in the majority of samples, while nitrite and nitrate were always detectable. When matching biochemical results with morphological evaluation, it was found that low grade embryos (n = 12) had significantly higher levels of all the compounds of interest. Moreover, when matching biochemical results according to successful (n = 17) or unsuccessful (n = 25) pregnancy, it was found that human embryos from the latter group released higher concentrations of hypoxanthine, uric acid, nitrite, and nitrate in the culture media. Additionally, those embryos that developed into successful pregnancies were all associated with the birth of healthy newborns. These results, although carried out on a relatively low number of samples, indicate that the analysis of the aforementioned compounds in the culture media of human embryos is a potentially useful tool for the selection of embryos for implantation, possibly leading to an increase in the overall rate of ART

    Different aspects of nuclear structure and reaction mechanisms in the collision 13N + 11B

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    The reaction 13N+11B has been investigated at two 13N beam energies: 29.5 and 45 MeV. Charged particles and γ rays emitted in the reactions have been detected using a large array of silicon strip detectors and BaF2 scintillators, respectively. Several reaction channels have been analysed with different aims. The proton transfer reaction 11B(13N, 12C)12C to various excited states of 12C has been studied to obtain information on the 13Ng.s. structure. The excitation energy of the 24Mg compound nucleus was in the region where several resonances occur in the 12C+12C system. The six-α decay of the 24Mg intermediate system has been studied. Some of these events have been identified as coming from the break-up of two 12C* in the 3-1-3-1 and 3-1-0+2 states. The total fusion cross section has also been extracted from the data. In order to extract information on the isospin purity/mixing in 24Mg at high excitation energy (Ex∼47 MeV), the GDR γ emission from this self-conjugate nucleus has been studied. A comparison of γ spectra has been undertaken for the reactions 13N+11B and 14N+10B. © 2001 Elsevier Science B.V.SCOPUS: ar.jinfo:eu-repo/semantics/publishe
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