837 research outputs found

    Towards In-Vitro Point of Care devices for in-situ diagnosis

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    Electronic and optoelectronic systems and subsystems play an important role to develop In-Vitro Diagnostics (IVDs) systems for healthcare, clinical, agro-food, environmental, pharmaceutical research or drug control, among many other applications. Although significant advantages have been described for label-free biosensing technology, still a limitednumber of compact devices for monitoring IVD in-situ have been already developed. In this paper a discussion about the current trends for developing Point-of-Care devices will be analyzed, as well as the future challenges for in-situ In-vitro diagnostic systems

    On MSSM charged Higgs boson production in association with an electroweak W boson at electron positron colliders

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    We present a calculation of the cross section for the process e+ e- --> W+/- H-/+ in the minimal supersymmetric standard model (MSSM) and the Two Higgs Doublet Model (THDM). We study the basic features of the MSSM prediction for some distinctive parameter scenarios. We find large effects from virtual squarks for scenarios with large mixing in the stop sector which can lead to a cross section vastly different from a THDM with identical Higgs sector parameters. We investigate this interesting behaviour in more detail by thoroughly scanning the MSSM parameter space for regions of large cross section. For a charged Higgs boson too heavy to be pair-produced at such a machine, it turns out that a large MSSM cross section with a good chance of observation is linked to a squark mass scale below 600 GeV and a considerable amount of mixing in either the stop and sbottom sector.Comment: 25 pages, 10 figures (two in colour). Substantially improved on the MSSM parameter restrictions taken into account. Added some reference

    The management of diabetic ketoacidosis in children

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    The object of this review is to provide the definitions, frequency, risk factors, pathophysiology, diagnostic considerations, and management recommendations for diabetic ketoacidosis (DKA) in children and adolescents, and to convey current knowledge of the causes of permanent disability or mortality from complications of DKA or its management, particularly the most common complication, cerebral edema (CE). DKA frequency at the time of diagnosis of pediatric diabetes is 10%–70%, varying with the availability of healthcare and the incidence of type 1 diabetes (T1D) in the community. Recurrent DKA rates are also dependent on medical services and socioeconomic circumstances. Management should be in centers with experience and where vital signs, neurologic status, and biochemistry can be monitored with sufficient frequency to prevent complications or, in the case of CE, to intervene rapidly with mannitol or hypertonic saline infusion. Fluid infusion should precede insulin administration (0.1 U/kg/h) by 1–2 hours; an initial bolus of 10–20 mL/kg 0.9% saline is followed by 0.45% saline calculated to supply maintenance and replace 5%–10% dehydration. Potassium (K) must be replaced early and sufficiently. Bicarbonate administration is contraindicated. The prevention of DKA at onset of diabetes requires an informed community and high index of suspicion; prevention of recurrent DKA, which is almost always due to insulin omission, necessitates a committed team effort

    Disruption of PHF21A causes syndromic intellectual disability with craniofacial anomalies, epilepsy, hypotonia, and neurobehavioral problems including autism

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    BACKGROUND: PHF21A has been associated with intellectual disability and craniofacial anomalies based on its deletion in the Potocki-Shaffer syndrome region at 11p11.2 and its disruption in three patients with balanced translocations. In addition, three patients with de novo truncating mutations in PHF21A were reported recently. Here, we analyze genomic data from seven unrelated individuals with mutations in PHF21A and provide detailed clinical descriptions, further expanding the phenotype associated with PHF21A haploinsufficiency. METHODS: Diagnostic trio whole exome sequencing, Sanger sequencing, use of GeneMatcher, targeted gene panel sequencing, and MiSeq sequencing techniques were used to identify and confirm variants. RT-qPCR was used to measure the normal expression pattern of PHF21A in multiple human tissues including 13 different brain tissues. Protein-DNA modeling was performed to substantiate the pathogenicity of the missense mutation. RESULTS: We have identified seven heterozygous coding mutations, among which six are de novo (not maternal in one). Mutations include four frameshifts, one nonsense mutation in two patients, and one heterozygous missense mutation in the AT Hook domain, predicted to be deleterious and likely to cause loss of PHF21A function. We also found a new C-terminal domain composed of an intrinsically disordered region. This domain is truncated in six patients and thus likely to play an important role in the function of PHF21A, suggesting that haploinsufficiency is the likely underlying mechanism in the phenotype of seven patients. Our results extend the phenotypic spectrum of PHF21A mutations by adding autism spectrum disorder, epilepsy, hypotonia, and neurobehavioral problems. Furthermore, PHF21A is highly expressed in the human fetal brain, which is consistent with the neurodevelopmental phenotype. CONCLUSION: Deleterious nonsense, frameshift, and missense mutations disrupting the AT Hook domain and/or an intrinsically disordered region in PHF21A were found to be associated with autism spectrum disorder, epilepsy, hypotonia, neurobehavioral problems, tapering fingers, clinodactyly, and syndactyly, in addition to intellectual disability and craniofacial anomalies. This suggests that PHF21A is involved in autism spectrum disorder and intellectual disability, and its haploinsufficiency causes a diverse neurological phenotype

    Efeito da densidade de população sobre os teores de ácido ascórbico e carboidratos solúveis de berinjela (Solanum melongena)

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    Eggplant (Solatium melongena) samples from 11.111 to 31.746 plants/ha densities were analysed in relation dry weight, ascorbic acid, total soluble carbohydrates, sucrose, glucose and fructose contents. Dry weight was affected statistically by plants density, the fruits from higher plant density showed highest level of dry meight. Other constituents were not affected by plant density. Ascorbic acid content varied from 5.9 to 10.6 mg/100 g on fresh weight basis. Soluble carbohydrate content, in g/100 g dry weight basis, were: sucrose (0.13-0.22), glucose (0.91-1.37), total (2.12-3.08) and fructose (0.83-1.11).Amostras de berinjela (Solanum melongena) de densidades de 11.111 a 31.746 plantas/ha foram analisadas quanto aos teores de matéria seca, ácido ascórbico, carboidratos solúveis totais, sacarose, glucose e frutose. Com exceção da matéria seca, não foram detectadas diferenças significativas entre os teores dos constituintes analisados em função das diversas densidades de plantas. Os frutos obtidos de maiores densidades de plantas apresentaram maior teor de matéria seca. O teor de ácido ascórbico variou de 5,9 a 10,6 mg/100 g peso fresco. Os teores de carboidratos solúveis, expressos cm g/100 g peso fresco, foram os seguintes: sacarose, (0,13-0,22), glucose (0,91-1,37) e frutose (0,83-1,11)

    Search for Higgs bosons decaying to tautau pairs in ppbar collisions at sqrt(s) = 1.96 TeV

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    We present a search for the production of neutral Higgs bosons decaying into tautau pairs in ppbar collisions at a center-of-mass energy of 1.96 TeV. The data, corresponding to an integrated luminosity of 5.4 fb-1, were collected by the D0 experiment at the Fermilab Tevatron Collider. We set upper limits at the 95% C.L. on the product of production cross section and branching ratio for a scalar resonance decaying into tautau pairs, and we then interpret these limits as limits on the production of Higgs bosons in the minimal supersymmetric standard model (MSSM) and as constraints in the MSSM parameter space.Comment: 7 pages, 5 figures, submitted to PL

    Measurement of the photon+b+b-jet production differential cross section in ppˉp\bar{p} collisions at \sqrt{s}=1.96~\TeV

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    We present measurements of the differential cross section dsigma/dpT_gamma for the inclusive production of a photon in association with a b-quark jet for photons with rapidities |y_gamma|< 1.0 and 30<pT_gamma <300 GeV, as well as for photons with 1.5<|y_gamma|< 2.5 and 30< pT_gamma <200 GeV, where pT_gamma is the photon transverse momentum. The b-quark jets are required to have pT>15 GeV and rapidity |y_jet| < 1.5. The results are based on data corresponding to an integrated luminosity of 8.7 fb^-1, recorded with the D0 detector at the Fermilab Tevatron ppˉp\bar{p} Collider at sqrt(s)=1.96 TeV. The measured cross sections are compared with next-to-leading order perturbative QCD calculations using different sets of parton distribution functions as well as to predictions based on the kT-factorization QCD approach, and those from the Sherpa and Pythia Monte Carlo event generators.Comment: 10 pages, 9 figures, submitted to Phys. Lett.

    Limits on anomalous trilinear gauge boson couplings from WW, WZ and Wgamma production in pp-bar collisions at sqrt{s}=1.96 TeV

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    We present final searches of the anomalous gammaWW and ZWW trilinear gauge boson couplings from WW and WZ production using lepton plus dijet final states and a combination with results from Wgamma, WW, and WZ production with leptonic final states. The analyzed data correspond to up to 8.6/fb of integrated luminosity collected by the D0 detector in pp-bar collisions at sqrt{s}=1.96 TeV. We set the most stringent limits at a hadron collider to date assuming two different relations between the anomalous coupling parameters Delta\kappa_\gamma, lambda, and Delta g_1^Z for a cutoff energy scale Lambda=2 TeV. The combined 68% C.L. limits are -0.057<Delta\kappa_\gamma<0.154, -0.015<lambda<0.028, and -0.008<Delta g_1^Z<0.054 for the LEP parameterization, and -0.007<Delta\kappa<0.081 and -0.017<lambda<0.028 for the equal couplings parameterization. We also present the most stringent limits of the W boson magnetic dipole and electric quadrupole moments.Comment: 10 pages, 5 figures, submitted to PL

    Measurement of three-jet differential cross sections d sigma-3jet / d M-3jet in p anti-p collisions at sqrt(s)=1.96 TeV

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    We present the first measurement of the inclusive three-jet differential cross section as a function of the invariant mass of the three jets with the largest transverse momenta in an event in p anti-p collisions at sqrt(s) = 1.96 TeV. The measurement is made in different rapidity regions and for different jet transverse momentum requirements and is based on a data set corresponding to an integrated luminosity of 0.7 fb^{-1} collected with the D0 detector at the Fermilab Tevatron Collider. The results are used to test the three-jet matrix elements in perturbative QCD calculations at next-to-leading order in the strong coupling constant. The data allow discrimination between parametrizations of the parton distribution functions of the proton.Comment: 10 pages, 4 figures, 2 tables, submitted to Phys. Lett. B, corrected chi2 values for NNPD

    Search for pair production of the scalar top quark in muon+tau final states

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    We present a search for the pair production of scalar top quarks (t~1\tilde{t}_{1}), the lightest supersymmetric partners of the top quarks, in ppˉp\bar{p} collisions at a center-of-mass energy of 1.96 TeV, using data corresponding to an integrated luminosity of {7.3 fb1fb^{-1}} collected with the \dzero experiment at the Fermilab Tevatron Collider. Each scalar top quark is assumed to decay into a bb quark, a charged lepton, and a scalar neutrino (ν~\tilde{\nu}). We investigate final states arising from t~1t~1ˉbbˉμτν~ν~\tilde{t}_{1} \bar{\tilde{t}_{1}} \rightarrow b\bar{b}\mu\tau \tilde{\nu} \tilde{\nu} and t~1t~1ˉbbˉττν~ν~\tilde{t}_{1} \bar{\tilde{t}_{1}} \rightarrow b\bar{b}\tau\tau \tilde{\nu} \tilde{\nu}. With no significant excess of events observed above the background expected from the standard model, we set exclusion limits on this production process in the (mt~1m_{\tilde{t}_{1}},mν~m_{\tilde{\nu}}) plane.Comment: Submitted to Phys. Lett.
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