Preliminary study of haplotypes linked to the rare cystic fibrosis E1104X mutation

The analysis of some extra- and intragenic markers within or closely linked to the cystic fibrosis transmembrane regulator (CFTR) gene is useful as a molecular method in clinical linkage analysis. Indeed, knowing that the molecular basis of cystic fibrosis (CF) is highly heterogeneous in our population, the study of haplotype association with normal and CF chromosomes could be very helpful in cases where one or both mutations remain unidentified. In this study, we analysed with PCR-RFLP and capillary electrophoresis some extra (pJ3.11, KM19 and XV2C) and intragenic (IVS8CA, IVS17bTA and IVS17bCA) polymorphic markers in 50 normal and 10 Tunisian patients carrying the rare E1104X mutation in order to determine the haplotype associated with this mutation. For the extragenic markers, 8 haplotypes were identified. The most frequent of them are the 221 and 112 accounting for 80% of total haplotypes. For the intragenic markers, five haplotypes were present on the E1104X chromosomes. One of them 16-31-13 accounted for 50%. To our knowledge, this is the first work to be interested to the haplotypes linked to the E1104X mutation. This preliminary study of haplotypes could be a helpful method to determine the molecular lesions responsible of this pathology

Process capability indices and X , R control chart limit adjustments by taking into account measurement system errors

This paper investigates the effects of measurement system variability arising from evaluations of process capabilities. In this work, relationships between true process capability indices, Cp,True and Cpm,True, and their corresponding observed indices, Cp,Obs and Cpm,Obs, are developed depending on the levels of type I and II errors. Moreover, the method for adjusting control chart limits used to monitor the process is proposed based on measurement system variability. An industrial case study is used to highlight the findings of this investigation and to discuss the adjustment levels that should be conducted depending on the values of type I and type II errors

Intérêt de la technique de Koyanagi dans le traitement de l’hypospadias posterieurchez l’enfant

No Abstrac

Combining Litter Observations with a Regional Ocean Model to Identify Sources and Sinks of Floating Debris in a Semi-enclosed Basin: The Adriatic Sea

Visual ship transect surveys provide crucial information about the density, and spatial distribution of floating anthropogenic litter in a basin. However, such observations provide a ‘snapshot’ of local conditions at a given time and cannot be used to deduce the provenance of the litter or to predict its fate, crucial information for management and mitigation policies. Particle tracking techniques have seen extensive use in these roles, however, most previous studies have used simplistic initial conditions based on bulk average inputs of debris to the system. Here, observations of floating anthropogenic macro debris in the Adriatic Sea are used to define initial conditions (number of particles, location, and time) in a Lagrangian particle tracking model. Particles are advected backward and forward in time for 60 days (120 days total) using surface velocities from an operational regional ocean model. Sources and sinks for debris observed in the central and southern Adriatic in May 2013 and March 2015 included the Italian coastline from Pescara to Brindisi, the Croatian island of Mljet, and the coastline from Dubrovnik through Montenegro to Albania. Debris observed in the northern Adriatic originated from the Istrian peninsula to the Italian city of Termoli, as well as the Croatian island of Cres and the Kornati archipelago. Particles spent a total of roughly 47 days afloat. Coastal currents, notably the eastern and western Adriatic currents, resulted in large alongshore displacements. Our results indicate that anthropogenic macro debris originates largely from coastal sources near population centers and is advected by the cyclonic surface circulation until it strands on the southwest (Italian) coast, exits the Adriatic, or recirculates in the southern gyreVersión del edito

Two-Phase Ozonation for the Removal of Estrone, 17β-Estradiol and 17α-Ethinylestradiol in Water Using Ozone-Loaded Decamethylcyclopentasiloxane

Ozonation has been proven effective for the removal of endocrine disrupting chemicals (EDCs) in water. However, conventional ozonation processes are still limited by ozone low solubility and stability in water. These limitations may be overcome by mixing a prior ozone-loaded non-polar solvent with the aqueous solution. This two-phase ozonation process combines Liquid-liquid extraction and Ozonation (LLO). Decamethylcyclopentasiloxane (D5) was chosen as the solvent to be charged with ozone for its non-toxicity, reusability and high ozone solubility. A concurrent LLO column reactor was designed for the simultaneous degradation of three endocrine disrupting chemicals (EDCs) in water: Estrone (E1), 17β-estradiol (E2) and 17α-estradiol (EE2). Results showed that 98% of EDCs were removed effectively from a solution initially concentrated at 1 mg L−1. The efficacy of the degradation depends essentially of the column feeding flowrate, the ozone dose and the operating pH. The generation of by-products during EDCs degradation by LLO was also investigated in this study. For a complete removal of both EDCs and by-products, the dose of ozone had to be doubled

Direct Observation of Longitudinally Polarised W Bosons

The three different helicity states of W bosons, produced in the reaction e+e- -> W+W- -> l nu q q~ are studied using leptonic and hadronic W decays at sqrt{s}=183GeV and 189GeV. The W polarisation is also measured as a function of the scattering angle between the W- and the direction of the e- beam. The analysis demonstrates that W bosons are produced with all three helicities, the longitudinal and the two transverse states. Combining the results from the two center-of-mass energies and with leptonic and hadronic W decays, the fraction of longitudinally polarised W bosons is measured to be 0.261 +/- 0.051(stat.) +/- 0.016(syst.) in agreement with the expectation from the Standard Model

Search for Charginos with a Small Mass Difference with the Lightest Supersymmetric Particle at \sqrt{s} = 189 GeV

A search for charginos nearly mass-degenerate with the lightest supersymmetric particle is performed using the 176 pb^-1 of data collected at 189 GeV in 1998 with the L3 detector. Mass differences between the chargino and the lightest supersymmetric particle below 4 GeV are considered. The presence of a high transverse momentum photon is required to single out the signal from the photon-photon interaction background. No evidence for charginos is found and upper limits on the cross section for chargino pair production are set. For the first time, in the case of heavy scalar leptons, chargino mass limits are obtained for any \tilde{\chi}^{+-}_1 - \tilde{\chi}^0_1 mass difference

Search for Scalar Leptons in e+e- collisions at \sqrt{s}=189 GeV

We report the result of a search for scalar leptons in e+e- collisions at 189 GeV centre-of-mass energy at LEP. No evidence for such particles is found in a data sample of 176 pb^{-1}. Improved upper limits are set on the production cross sections for these new particles. New exclusion contours in the parameter space of the Minimal Supersymmetric Standard Model are derived, as well as new lower limits on the masses of these supersymmetric particles. Under the assumptions of common gaugino and scalar masses at the GUT scale, we set an absolute lower limit on the mass of the lightest scalar electron of 65.5 Ge

Formation of the ηc\eta_c in Two-Photon Collisions at LEP

The two-photon width $\Gamma_{\gamma\gamma}$ of the $\eta_c$ meson has been measured with the L3 detector at LEP. The $\eta_c$ is studied in the decay modes $\pi^+\pi^-\pi^+\pi^-$, $\pi^+\pi^-$K$^+$K$^-$, K$_s^0$K$^\pm\pi^\mp$, K$^+$K$^-\pi^{0}$, $\pi^+\pi^-\eta$, $\pi^+\pi^-\eta'$, and $\rho^+\rho^-$ using an integrated luminosity of 140 pb$^{-1}$ at $\sqrt{s} \simeq 91$ GeV and of 52 pb$^{-1}$ at $\sqrt{s} \simeq 183$ GeV. The result is $\Gamma_{\gamma\gamma}(\eta_c) = 6.9 \pm 1.7 (stat.) \pm 0.8 (sys.) \pm 2.0$(BR) keV. The $Q^2$ dependence of the $\eta_c$ cross section is studied for $Q^2 < 9$ GeV$^{2}$. It is found to be better described by a Vector Meson Dominance model form factor with a J-pole than with a $\rho$-pole. In addition, a signal of $29 \pm 11$ events is observed at the $\chi_c0$ mass. Upper limits for the two-photon widths of the $\chi_c0$, $\chi_c2$, and $\eta_c'$ are also given

Study of Z Boson Pair Production in e+e- Collisions at LEP at \sqrt{s}=189 GeV

The pair production of Z bosons is studied using the data collected by the L3 detector at LEP in 1998 in e+e- collisions at a centre-of-mass energy of 189 GeV. All the visible final states are considered and the cross section of this process is measured to be 0.74 +0.15 -0.14 (stat.) +/- 0.04 (syst.) pb. Final states containing b quarks are enhanced by a dedicated selection and their production cross section is found to be 0.18 +0.09 -0.07 (stat.) +/- 0.02 (syst.) pb. Both results are in agreement with the Standard Model predictions. Limits on anomalous couplings between neutral gauge bosons are derived from these measurements