MODY 2: report of two cases with a new gene mutation in GCK

La diabetes MODY (Maturity Onset Diabetes of the Young) comprende un grupo heterogéneo de enfermedades monogénicas que se caracterizan por la disfunción de las células β. Se estima que ellas son responsables de 2-5% de los casos de diabetes. Se conocen más de 200 mutaciones en el gen de la glucoquinasa (GCK). En este trabajo se expone el caso de dos hermanas en las cuales se realizó el diagnóstico de MODY 2 a través del estudio genético, hallándose una mutación del gen de la GCK no descripto previamente en la bibliografía.MODY (maturity onset diabetes of the young) includes a heterogeneous group of monogenic diseases which are characterized by dysfunction of beta cells. It accounts for 2-5% of all cases of diabetes. Over 200 mutations in the glucokinase (GCK) gene are known. In this paper we discuss the cases of two sisters in which the diagnosis of MODY 2 was performed by genetic studies, and report the finding of a mutation in the GCK gene not previously described in the literature.Fil: Chiarpenello, J.. Centro de Endocrinología de Rosario; Argentina. Provincia de Santa Fe. Ministerio de Salud y Medio Ambiente - Rosario. Hospital Provincial del Centenario; ArgentinaFil: Fernández, L.. Provincia de Santa Fe. Ministerio de Salud y Medio Ambiente - Rosario. Hospital Provincial del Centenario; ArgentinaFil: Riccobene, A.. Provincia de Santa Fe. Ministerio de Salud y Medio Ambiente - Rosario. Hospital Provincial del Centenario; ArgentinaFil: Baella, A.. Provincia de Santa Fe. Ministerio de Salud y Medio Ambiente - Rosario. Hospital Provincial del Centenario; ArgentinaFil: Strallnicof, M.. Provincia de Santa Fe. Ministerio de Salud y Medio Ambiente - Rosario. Hospital Provincial del Centenario; ArgentinaFil: Castagnani, V.. Provincia de Santa Fe. Ministerio de Salud y Medio Ambiente - Rosario. Hospital Provincial del Centenario; ArgentinaFil: Herrera, M.. Provincia de Santa Fe. Ministerio de Salud y Medio Ambiente - Rosario. Hospital Provincial del Centenario; ArgentinaFil: Sermasi, V.. Provincia de Santa Fe. Ministerio de Salud y Medio Ambiente - Rosario. Hospital Provincial del Centenario; ArgentinaFil: Laurenti, N.. Provincia de Santa Fe. Ministerio de Salud y Medio Ambiente - Rosario. Hospital Provincial del Centenario; ArgentinaFil: Carretto, H.. Provincia de Santa Fe. Ministerio de Salud y Medio Ambiente - Rosario. Hospital Provincial del Centenario; Argentina. Centro de Endocrinología de Rosario; ArgentinaFil: Baquedano, María Sonia. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Córdoba. Centro de Investigaciones en Bioquímica Clínica e Inmunología; Argentin

Current Status of the Solar Neutrino Problem with Super-Kamiokande

We perform an updated model-independent analysis using the latest solar neutrino data obtained by $^{37}$Cl and $^{71}$Ga radiochemical experiments, and most notably by a large water-Cherenkov detector SuperKamiokande with their 504 days of data taking. We confirm that the astrophysical solutions to the solar neutrino problem are extremely disfavored by the data and a low-temperature modification of the standard solar model is excluded by more than 5 $\sigma$. We also propose a new way of illuminating the suppression pattern of various solar neutrino flux without invoking detailed flavor conversion mechanisms. It indicates that the strong suppression of $^7$Be neutrinos is no more true when the neutrino flavor conversion is taken into account.Comment: RevTex file, 10 pages, 7 postscript figure

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A compreensão da variabilidade no espaço e tempo das propriedades edáficas, climáticas e dos vegetais, nos diferentes sistemas produtivos, possui potencial para contribuir com o aumento da produtividade e qualidade, economia de insumos, e redução do impacto ambiental

Microclima em sistemas integrados de produção pecuária sob manejo do componente arbóreo: radiação fotossinteticamente ativa.

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The variety of isotopes in cosmic rays allows us to study different aspects of the processes that cosmic rays undergo between the time they are produced and the time of their arrival in the heliosphere. In this paper we present measurements of the isotopic ratios 2H/4He, 3He/4He, 6Li/7Li, 7Be/(9Be+10Be) and 10B/11B in the range 0.2-1.4 GeV of kinetic energy per nucleon. The measurements are based on the data collected by the Alpha Magnetic Spectrometer, AMS-01, during the STS-91 flight in 1998 June.Comment: To appear in ApJ. 12 pages, 11 figures, 6 table

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Inclusive photoproduction of D*+- mesons has been measured for photon-proton centre-of-mass energies in the range 130 < W < 280 GeV and a photon virtuality Q^2 < 1 GeV^2. The data sample used corresponds to an integrated luminosity of 37 pb^-1. Total and differential cross sections as functions of the D* transverse momentum and pseudorapidity are presented in restricted kinematical regions and the data are compared with next-to-leading order (NLO) perturbative QCD calculations using the "massive charm" and "massless charm" schemes. The measured cross sections are generally above the NLO calculations, in particular in the forward (proton) direction. The large data sample also allows the study of dijet production associated with charm. A significant resolved as well as a direct photon component contribute to the cross section. Leading order QCD Monte Carlo calculations indicate that the resolved contribution arises from a significant charm component in the photon. A massive charm NLO parton level calculation yields lower cross sections compared to the measured results in a kinematic region where the resolved photon contribution is significant.Comment: 32 pages including 6 figure

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How Large Is the 7Be^7{Be} Neutrino Flux from the Sun ?

On the basis of present solar neutrino observations and relaxing the constraints from solar models it is possible that most (or nearly all) of the flux of electron neutrinos detected comes from electron capture in $^7{Be}$. These solutions arise from neutrino oscillations in which $\nu_e$ $-$ $\nu_\tau$ mixing suppresses high energy $\nu_e$ and $\nu_e - \nu_\mu$ mixing suppresses low energy $\nu_e$ as qualitatively suggested from some SO(10) grand unified models. The importance of future observations is emphasized.Comment: 20 pages, 3 figures, REVTE