The Chihuahua dog: A new animal model for neuronal ceroid lipofuscinosis CLN7 disease?

Neuronal ceroid lipofuscinoses (NCLs) are a group of incurable lysosomal storage disorders characterized by neurodegeneration and accumulation of lipopigments mainly within the neurons. We studied two littermate Chihuahua dogs presenting with progressive signs of blindness, ataxia, pacing, and cognitive impairment from 1 year of age. Because of worsening of clinical signs, both dogs were euthanized at about 2 years of age. Postmortem examination revealed marked accumulation of autofluorescent intracellular inclusions within the brain, characteristic of NCL. Whole-genome sequencing was performed on one of the affected dogs. After sequence alignment and variant calling against the canine reference genome, variants were identified in the coding region or splicing regions of four previously known NCL genes (CLN6, ARSG, CLN2 [=TPP1], and CLN7 [=MFSD8]). Subsequent segregation analysis within the family (two affected dogs, both parents, and three relatives) identified MFSD8:p.Phe282Leufs13*, which had previously been identified in one Chinese crested dog with no available ancestries, as the causal mutation. Because of the similarities of the clinical signs and histopathological changes with the human form of the disease, we propose that the Chihuahua dog could be a good animal model of CLN7 disease

A new forward-scatter visibility sensor based on a universal frequency-to-digital converter

Traffic delays attributable to weather conditions may cause an increase in fuel consumption and then an increase in CO2 emissions to the environment. Visibility reduction in roads due to dense fog is a main cause of traffic accidents and possible environmental pollution, hence the importance of deploying fog warning systems. In this article, we present a forward-scatter visibility sensor that uses a quasi-digital photodetector and a universal frequency-to-digital converter instead of a conventional analog-to-digital converter as data acquisition system. This feature has allowed the design of a low-cost, robust, and simple sensor-to-microcontroller interface as demanded by Intelligent Transportation Systems (ITS) applications. An optical system to limit light interference is proposed. The visibilimeter was calibrated from a self-calibrated transmissometer using the same frequency-to-digital technique. This new instrument is capable of a 41 662.5m visibility range detection and to transmit the information wirelessly to a 100m distance.The authors would like to thank the Universidad Autonoma Metropolitana-Azcapotzalco and the Universidad Politecnica de Valencia for their support.Barrales Guadarrama, R.; Mocholí Salcedo, A.; Rodríguez Rodríguez, M.; Barrales Guadarrame, VR.; Vázquez Cerón, ER. (2013). A new forward-scatter visibility sensor based on a universal frequency-to-digital converter. Instrumentation Science and Technology. 41:445-462. doi:10.1080/10739149.2013.780250S44546241News Section, p. 8, (April-March 2009), ITS International Electronic Magazine [Online]. Available: www.itsinternational.comBandivadekar , A. ; Bodek , K. ; Cheah , L. ; Evans , C. ; Groode , T. ; Heywood , J. ; Kasseris , E. ; Kromer , M. ; Weiss , M. On the Road in 2035: Reducing Transportation's Petroleum Consumption and GHG Emissions. Report No. LFEE 2008–05 RP, MIT Laboratory for Energy and the Environment, Cambridge, Massachusetts, 2008.Schrank , D. ; Lomax , T. ; Turner , S. TTI's Urban Mobility Report 2010 [Online]. Avalaible: http://tti.tamu.edu/publications/catalog/record/?id=36580.Bradley , J. T. ; Kraus , K. ; Townshend , T. Federal Citing Criteria for Automated Surface Weather Observations. 7th Symp. On Meteorological Observations and Instrumentation, New Orleans, LA, 1991, 207–210.Winstanley, J. V., & Adams, M. J. (1975). Point Visibility Meter: a forward scatter instrument for the measurement of aerosol extinction coefficient. Applied Optics, 14(9), 2151. doi:10.1364/ao.14.002151Horner, J. L. (1976). Analog visibility computer. Applied Optics, 15(4), 999. doi:10.1364/ao.15.000999Twomey, S., & Howell, H. B. (1965). The Relative Merit of White and Monochromatic Light for the Determination of Visibility by Backscattering Measurements. Applied Optics, 4(4), 501. doi:10.1364/ao.4.000501Vogt, H. (1968). Visibility Measurement Using Backscattered Light. Journal of the Atmospheric Sciences, 25(5), 912-918. doi:10.1175/1520-0469(1968)0252.0.co;2Tjugum, S. A., Vaagen, J. S., Jakobsen, T., & Hamre, B. (2005). Use of optical scatter sensors for measurement of visibility. Journal of Environmental Monitoring, 7(6), 608. doi:10.1039/b414327bNebuloni, R. (2005). Empirical relationships between extinction coefficient and visibility in fog. Applied Optics, 44(18), 3795. doi:10.1364/ao.44.003795Kirianaki, N. V., Yurish, S. Y., Shpak, N. O., & Deynega, V. P. (2002). Data Acquisition and Signal Processing for Smart Sensors. doi:10.1002/0470846100Hlupic, N., Butorac, J., & Kresic, M. (2005). Improved Frequency Measurement by Means of DMM and Verification of its Specifications. IEEE Transactions on Instrumentation and Measurement, 54(5), 1957-1963. doi:10.1109/tim.2005.853561Prokin, M. (1991). Double buffered wide-range frequency measurement method for digital tachometers. IEEE Transactions on Instrumentation and Measurement, 40(3), 606-610. doi:10.1109/19.87027Yurish, S. Y., Reverter, F., & Pallàs-Areny, R. (2005). Measurement error analysis and uncertainty reduction for period- and time-interval-to-digital converters based on microcontrollers. Measurement Science and Technology, 16(8), 1660-1666. doi:10.1088/0957-0233/16/8/018Kirianaki, N. V., Yurish, S. Y., & Shpak, N. O. (2001). Methods of dependent count for frequency measurements. Measurement, 29(1), 31-50. doi:10.1016/s0263-2241(00)00026-9Barrales-Guadarrama , R. ; Mocholí-Salcedo , A. ; Vázquez-Cerón , E. R. ; Rodríguez-Rodríguez , M. E. ; Barrales-Guadarrama , V. R. A Technique for Adapting a Quasi-digital Photodetector to a Frequency-to-digital Converter. Proceedings 2012 IEEE Electronics, Robotics and Automotive Mechanics Conference, CERMA 2012, Cuernavaca, Morelos, México, Nov. 20–23, 2012.(2011) 700–999 nm Bandpass Interference Filters, [Online]. Available: http://www.edmundoptics.com/products/displayproduct.cfm?productid=3198&PageNum=6&Sort=displayOrder&Order=asc#products.AeroGrapher's Mate, Module 05—Basic Meteorology, Ch. 5, Atmospheric Phenomena, Radiation Fog, [Online]. Available: http://www.tpub.com/content/aerographer/14312/css/14312_143.htm

Yukawa Quasi-Unification

We construct concrete supersymmetric grand unified theories based on the Pati-Salam gauge group SU(4)_c x SU(2)_L x SU(2)_R which naturally lead to a moderate violation of "asymptotic" Yukawa unification and thus can allow an acceptable b-quark mass even with universal boundary conditions. We consider the constrained minimal supersymmetric standard model which emerges from one of these theories with a deviation from Yukawa unification which is adequate for mu>0. We show that this model possesses a wide and natural range of parameters which is consistent with the data on b --> s gamma, the muon anomalous magnetic moment, the cold dark matter abundance in the universe, and the Higgs boson masses. The lightest supersymmetric particle can be as light as about 107 GeV.Comment: 27 pages including 10 figures, Revtex, minor corrections, version to appear in Nucl. Phys.

Neutralino-Nucleon Cross Section and Charge and Colour Breaking Constraints

We compute the neutralino-nucleon cross section in several supersymmetric scenarios, taking into account all kind of constraints. In particular, the constraints that the absence of dangerous charge and colour breaking minima imposes on the parameter space are studied in detail. In addition, the most recent experimental constraints, such as the lower bound on the Higgs mass, the $b\to s\gamma$ branching ratio, and the muon $g-2$ are considered. The astrophysical bounds on the dark matter density are also imposed on the theoretical computation of the relic neutralino density, assuming thermal production. This computation is relevant for the theoretical analysis of the direct detection of dark matter in current experiments. We consider first the supergravity scenario with universal soft terms and GUT scale. In this scenario the charge and colour breaking constraints turn out to be quite important, and \tan\beta\lsim 20 is forbidden. Larger values of $\tan\beta$ can also be forbidden, depending on the value of the trilinear parameter $A$. Finally, we study supergravity scenarios with an intermediate scale, and also with non-universal scalar and gaugino masses where the cross section can be very large.Comment: Final version to appear in JHE

Flavour Violation in SUSY SU(5) GUT at Large tan beta

We study flavour violation in the minimal SUSY SU(5) GUT assuming all the third generation Yukawa couplings to be due to the renormalizable physics above GUT scale. At large $\tan\beta,$ as suggested by Yukawa unification in SU(5), sizable flavour violation in the left (right) slepton (down squark) sector is induced due to renormalization effects of down type Yukawa couplings between GUT and Planck scales in addition to the flavour violation in the right slepton sector. The new flavour physics contribution to $K-\bar K,$ $B-\bar B$ mixing is small but might be of phenomenological interest in the case of $b\to s\gamma.$ The sign of the latter contribution is the same as the sign of the dominant chargino contribution, thus making the constraints on SUSY scale coming from $b\to s\gamma$ somewhat more restrictive. The most important feature of the considered scenario is the large rate of lepton flavour violation. Given the present experimental constraints, the $\mu\to e\gamma$ and $\mu-e$ conversion branching ratios are above the sensitivity of the planned experiments unless the SUSY scale is pushed above one TeV.Comment: 22 pages, 7 figure

Shrinking a large dataset to identify variables associated with increased risk of Plasmodium falciparum infection in Western Kenya

Large datasets are often not amenable to analysis using traditional single-step approaches. Here, our general objective was to apply imputation techniques, principal component analysis (PCA), elastic net and generalized linear models to a large dataset in a systematic approach to extract the most meaningful predictors for a health outcome. We extracted predictors for Plasmodium falciparum infection, from a large covariate dataset while facing limited numbers of observations, using data from the People, Animals, and their Zoonoses (PAZ) project to demonstrate these techniques: data collected from 415 homesteads in western Kenya, contained over 1500 variables that describe the health, environment, and social factors of the humans, livestock, and the homesteads in which they reside. The wide, sparse dataset was simplified to 42 predictors of P. falciparum malaria infection and wealth rankings were produced for all homesteads. The 42 predictors make biological sense and are supported by previous studies. This systematic data-mining approach we used would make many large datasets more manageable and informative for decision-making processes and health policy prioritization

Global Search for New Physics with 2.0/fb at CDF

Data collected in Run II of the Fermilab Tevatron are searched for indications of new electroweak-scale physics. Rather than focusing on particular new physics scenarios, CDF data are analyzed for discrepancies with the standard model prediction. A model-independent approach (Vista) considers gross features of the data, and is sensitive to new large cross-section physics. Further sensitivity to new physics is provided by two additional algorithms: a Bump Hunter searches invariant mass distributions for "bumps" that could indicate resonant production of new particles; and the Sleuth procedure scans for data excesses at large summed transverse momentum. This combined global search for new physics in 2.0/fb of ppbar collisions at sqrt(s)=1.96 TeV reveals no indication of physics beyond the standard model.Comment: 8 pages, 7 figures. Final version which appeared in Physical Review D Rapid Communication

Observation of Orbitally Excited B_s Mesons

We report the first observation of two narrow resonances consistent with states of orbitally excited (L=1) B_s mesons using 1 fb^{-1} of ppbar collisions at sqrt{s} = 1.96 TeV collected with the CDF II detector at the Fermilab Tevatron. We use two-body decays into K^- and B^+ mesons reconstructed as B^+ \to J/\psi K^+, J/\psi \to \mu^+ \mu^- or B^+ \to \bar{D}^0 \pi^+, \bar{D}^0 \to K^+ \pi^-. We deduce the masses of the two states to be m(B_{s1}) = 5829.4 +- 0.7 MeV/c^2 and m(B_{s2}^*) = 5839.7 +- 0.7 MeV/c^2.Comment: Version accepted and published by Phys. Rev. Let