Miracle-dz/UniFAR-FTUs huggingface dataset:
Whole-Exome Sequencing and High Throughput Genotyping Identified KCNJ11 as the Thirteenth MODY Gene

Background Maturity-onset of the young (MODY) is a clinically heterogeneous form of diabetes characterized by an autosomal-dominant mode of inheritance, an onset before the age of 25 years, and a primary defect in the pancreatic beta-cell function. Approximately 30% of MODY families remain genetically unexplained (MODY-X). Here, we aimed to use whole-exome sequencing (WES) in a four-generation MODY-X family to identify a new susceptibility gene for MODY. Methodology WES (Agilent-SureSelect capture/Illumina-GAIIx sequencing) was performed in three affected and one non-affected relatives in the MODY-X family. We then performed a high-throughput multiplex genotyping (Illumina-GoldenGate assay) of the putative causal mutations in the whole family and in 406 controls. A linkage analysis was also carried out. Principal Findings By focusing on variants of interest (i.e. gains of stop codon, frameshift, non-synonymous and splice-site variants not reported in dbSNP130) present in the three affected relatives and not present in the control, we found 69 mutations. However, as WES was not uniform between samples, a total of 324 mutations had to be assessed in the whole family and in controls. Only one mutation (p.Glu227Lys in KCNJ11) co-segregated with diabetes in the family (with a LOD-score of 3.68). No KCNJ11 mutation was found in 25 other MODY-X unrelated subjects. Conclusions/Significance Beyond neonatal diabetes mellitus (NDM), KCNJ11 is also a MODY gene (‘MODY13’), confirming the wide spectrum of diabetes related phenotypes due to mutations in NDM genes (i.e. KCNJ11, ABCC8 and INS). Therefore, the molecular diagnosis of MODY should include KCNJ11 as affected carriers can be ideally treated with oral sulfonylureas.
Spectroscopic Studies of Extremely Metal-poor Stars with the Subaru High-Dispersion Spectrograph. IV. The α-Element-Enhanced Metal-poor Star BS 16934–002

A detailed elemental abundance analysis has been carried out for the very metal-poor ([Fe/H] = -2.7) star BS 16934-002, which was identified in our previous work as a star exhibiting large overabundances of Mg and Sc. A comparison of the abundance pattern of this star with that of the well-studied metal-poor star HD 122563 indicates excesses of O, Na, Mg, Al, and Sc in BS 16934-002. Of particular interest, no excess of C or N is found in this object, in contrast to CS 22949-037 and CS 29498-043, two previously known carbon-rich, extremely metal-poor stars with excesses of the α-elements. No established nucleosynthesis model exists that explains the observed abundance pattern of BS 16934-002. A supernova model, including mixing and fallback and assuming severe mass loss before explosion, is discussed as a candidate progenitor of BS 16934-002.
Ordered chaining calculi for first-order theories of transitive relations

We propose inference systems for binary relations that satisfy composition laws such as transitivity. Our inference mechanisms are based on standard techniques from term rewriting and represent a refinement of chaining methods as they are used in the context of resolution-type theorem proving. We establish the refutational completeness of these calculi and prove that our methods are compatible with the usual simplification techniques employed in refutational theorem provers, such as subsumption or tautology deletion. Various optimizations of the basic chaining calculus will be discussed for theories with equality and for total orderings. A key to the practicality of chaining methods is the extent to which so-called variable chaining can be avoided. We demonstrate that rewrite techniques considerably restrict variable chaining and that further restrictions are possible if the transitive relation under consideration satisfies additional properties, such as symmetry. But we also show that variable chaining cannot be completely avoided in general.
Stimulation of the Posterior Parietal Cortex Interferes with Arm Trajectory Adjustments during the Learning of New Dynamics

Substantial neurophysiological evidence points to the posterior parietal cortex (PPC) as playing a key role in the coordinate transformation necessary for visually guided reaching. Our goal was to examine the role of PPC in the context of learning new dynamics of arm movements. We assessed this possibility by stimulating PPC with transcranial magnetic stimulation (TMS) while subjects learned to make reaching movements with their right hand in a velocity-dependent force field. We reasoned that, if PPC is necessary to adjust the trajectory of the arm as it interacts with a novel mechanical system, interfering with the functioning of PPC would impair adaptation. Single pulses of TMS were applied over the left PPC 40 msec after the onset of movement during adaptation. As a control, another group of subjects was stimulated over the visual cortex. During early stages of learning, the magnitude of the error (measured as the deviation of the hand paths) was similar across groups. By the end of the learning period, however, error magnitudes decreased to baseline levels for controls but remained significantly larger for the group stimulated over PPC. Our findings are consistent with a role of PPC in the adjustment of motor commands necessary for adapting to a novel mechanical environment.
Feature selection for Chinese Text Categorization based on improved particle swarm optimization

Feature selection is an important preprocessing step of Chinese Text Categorization, which reduces the high dimension and keeps the reduced results comprehensible compared to feature extraction. A novel criterion to filter features coarsely is proposed, which integrating the superiorities of term frequency-inverse document frequency as inner-class measure and CHI-square as inter-class, and a new feature selection method for Chinese text categorization based on swarm intelligence is presented, which using improved particle swarm optimization to select features fine on the results of coarse grain filtering, and utilizing support vector machine to evaluate feature subsets and taking the evaluations as the fitness of particles. The experiments on Fudan University Chinese Text Classification Corpus show a higher classification accuracy obtained by using the new criterion for features filtering and an effective feature reduction ratio attained by utilizing the novel FS method for Chinese text categorization.
ATOMIC MICROMANIPULATION WITH MAGNETIC SURFACE TRAPS

We describe manipulation of neutral atoms using the magnetic field of microfabricated currentcarrying conductors. It is shown how this method can be used to achieve adiabatic magnetic transport from one reservoir to another. In the first experimental realization of a microfabricated magnetic neutral-atom trap, efficient loading is achieved with a novel mirror-magneto-optic trap. A cloud of rubidium atoms is stored and compressed using the magnetic field of a “U”-shaped wire carrying a current of 2 A. An evaporation mechanism is demonstrated which removes hot atoms from the trap by collisions with the substrate surface.
Constraining the Physical Parameters of the Circumstellar Disk of χ Ophiuchi

We present a numerical model describing a circularly symmetric gaseous disk around the Be star χ Ophiuchi. The model is constrained by long-baseline interferometric observations that are sensitive to the Hα Balmer line emission from the disk. For the first time, our interferometric observations spatially resolve the inner region of the circumstellar disk around χ Oph, and we use these results to place a constraint on the physical extent of the Hα-emitting region. We demonstrate how this in turn results in very specific constraints on the parameters that describe the variation of the gas density as a function of radial distance from the central star.
Algal Diet of Small-Bodied Crustacean Zooplankton in a Cyanobacteria-Dominated Eutrophic Lake

Small-bodied cladocerans and cyclopoid copepods are becoming increasingly dominant over large crustacean zooplankton in eutrophic waters where they often coexist with cyanobacterial blooms. However, relatively little is known about their algal diet preferences. We studied grazing selectivity of small crustaceans (the cyclopoid copepods Mesocyclops leuckarti, Thermocyclops oithonoides, Cyclops kolensis, and the cladocerans Daphnia cucullata, Chydorus sphaericus, Bosmina spp.) by liquid chromatographic analyses of phytoplankton marker pigments in the shallow, highly eutrophic Lake Võrtsjärv (Estonia) during a seasonal cycle. Copepods (mainly C. kolensis) preferably consumed cryptophytes (identified by the marker pigment alloxanthin in gut contents) during colder periods, while they preferred small non-filamentous diatoms and green algae (identified mainly by diatoxanthin and lutein, respectively) from May to September. All studied cladoceran species showed highest selectivity towards colonial cyanobacteria (identified by canthaxanthin). For small C. sphaericus, commonly occuring in the pelagic zone of eutrophic lakes, colonial cyanobacteria can be their major food source, supporting their coexistence with cyanobacterial blooms. Pigments characteristic of filamentous cyanobacteria and diatoms (zeaxanthin and fucoxanthin, respectively), algae dominating in Võrtsjärv, were also found in the grazers’ diet but were generally avoided by the crustaceans commonly dominating the zooplankton assemblage. Together these results suggest that the co-occurring small-bodied cyclopoid and cladoceran species have markedly different algal diets and that the cladocera represent the main trophic link transferring cyanobacterial carbon to the food web in a highly eutrophic lake.
Halothane Blocks Sensory Neurons Low-Voltage-activated Calcium Current

Makoto Takenoshita” and Joe Henry Steinbach Department of Anesthesiology, Washington University School of Medicine, St. Louis, Missouri 63110 Although volatile anesthetic agents have been used clini- cally for many years, the mechanisms by which they act on the nervous system to produce anesthesia are not known. A possible site of action is the voltage-gated calcium-se- lective channel (Kmjevic and Puil, 1988). Accordingly, the action of the halogenated alkane anesthetic halothane on voltage-dependent Ca currents in neonatal rat sensory neu- rons was examined using whole-cell patch-clamp record- ings. Halothane reversibly reduced the low-voltage-activat- ed Ca current with an EC, of about 100 @t. Similar effects were seen using a halogenated ether anesthetic (isoflurane) and in sensory neurons from adult rats. At higher concen- trations, both halothane and isoflurane reduced the high- voltage-activated Ca current. Because low-voltage-activat- ed Ca current has been postulated to be involved in the control of neuronal excitability and bursting (Llinas, 1988), this block may explain some of the clinical actions of volatile anesthetics. The mechanisms by which volatile anesthetics produce clinical anesthesia are not understood. It is clear that at clinically rel- evant concentrations they have relatively little effect on con- duction in peripheral axons, so it has been suggested that they act on some aspect of synaptic transmission (Larrabee and Pos- temak, 1952; Richards, 1983). More recent work has indicated that some voltage-gated membrane channels may be affected. In particular, neuronal voltage-dependent calcium currents have been implicated as a possible site ofaction. It has been suggested that volatile anesthetics depress evoked transmitter release by reducing Ca entry (Takenoshita and Takahashi, 1987), and mea- surements of evoked quanta1 content at Ia synapses onto mo- tomeurons show a reduction (Kullmann et al., 1989). Further- more, halothane has been found to reduce voltage-gated Ca current in hippocampal neurons (Krnjevic and Puil, 1988). There are several classes of voltage-gated Ca currents (Bean, 1989); the most distinct are the low-voltage-activated (LVA, or “T”) current and the high-voltage-activated (HVA, or “N” and/or
Fossil groups in the Millennium Simulation - Evolution of the brightest galaxies

Aims. We create a catalogue of simulated fossil groups and study their properties, in particular the merging histories of their first-ranked galaxies. We compare the simulated fossil group properties with those of both simulated non-fossil and observed fossil groups. Methods. Using simulations and a mock galaxy catalogue, we searched for massive (>5 $\times$ 10$^{13}~h^{-1}~{\cal M}_\odot$) fossil groups in the Millennium Simulation Galaxy Catalogue. In addition, we attempted to identify observed fossil groups in the Sloan Digital Sky Survey Data Release 6 using identical selection criteria. Results. Our predictions on the basis of the simulation data are: (a) fossil groups comprise about 5.5% of the total population of groups/clusters with masses larger than 5 $\times$ 10$^{13}~h^{-1}~{\cal M}_\odot$. This fraction is consistent with the fraction of fossil groups identified in the SDSS, after all observational biases have been taken into account; (b) about 88% of the dominant central objects in fossil groups are elliptical galaxies that have a median R -band absolute magnitude of ~$-23.5{-}5~\log~h$, which is typical of the observed fossil groups known in the literature; (c) first-ranked galaxies of systems with $ {\cal M} >$ 5 $\times$ 10$^{13}~h^{-1}~{\cal M}_\odot$, regardless of whether they are either fossil or non-fossil, are mainly formed by gas-poor mergers; (d) although fossil groups, in general, assembled most of their virial masses at higher redshifts in comparison with non-fossil groups, first-ranked galaxies in fossil groups merged later, i.e. at lower redshifts , compared with their non-fossil-group counterparts. Conclusions. We therefore expect to observe a number of luminous galaxies in the centres of fossil groups that show signs of a recent major merger.
The exact solution of the Riemann problem in relativistic magnetohydrodynamics with tangential magnetic fields

We have extended the procedure to find the exact solution of the Riemann problem in relativistic hydrodynamics to a particular case of relativistic magnetohydrodynamics in which the magnetic field of the initial states is tangential to the discontinuity and orthogonal to the flow velocity. The wave pattern produced after the break up of the initial discontinuity is analogous to the non-magnetic case and we show that the problem can be understood as a purely relativistic hydrodynamical problem with a modified equation of state. The new degree of freedom introduced by the non-zero component of the magnetic field results in interesting effects consisting in the change of the wave patterns for given initial thermodynamical states, in a similar way to the effects arising from the introduction of tangential velocities. Secondly, when the magnetic field dominates the thermodynamical pressure and energy, the wave speeds approach the speed of light, leading to fast shocks and fast and arbitrarily thin rarefaction waves. Our approach is the first non-trivial exact solution of a Riemann problem in relativistic magnetohydrodynamics and it can also be of great interest to test numerical codes against known analytical or exact solutions.
Hadronic contributions to the anomalous magnetic moment of the muon

We present a new, completely revised calculation of the muon anomalous magnetic moment ${a}_{\ensuremath{\mu}}=({g}_{\ensuremath{\mu}}\ensuremath{-}2)/2$ comparing it with the more recent experimental determination of this quantity; this furnishes an important test of theories of strong, weak, and electromagnetic interactions. These theoretical determinations give the very precise numbers, ${10}^{11}\ifmmode\times\else\texttimes\fi{}{a}_{\ensuremath{\mu}}=116\text{ }591\text{ }806\ifmmode\pm\else\textpm\fi{}50\ifmmode\pm\else\textpm\fi{}10(\mathrm{rad})\ifmmode\pm\else\textpm\fi{}30(\ensuremath{\ell}\ifmmode\times\else\texttimes\fi{}\ensuremath{\ell})\text{ }\phantom{\rule{0ex}{0ex}}[\mathrm{Theory},\mathrm{no}\text{ }\text{ }\ensuremath{\tau}]$ and ${10}^{11}\ifmmode\times\else\texttimes\fi{}{a}_{\ensuremath{\mu}}=116\text{ }591\text{ }889\ifmmode\pm\else\textpm\fi{}49\ifmmode\pm\else\textpm\fi{}10(\mathrm{rad})\ifmmode\pm\else\textpm\fi{}30(\ensuremath{\ell}\ifmmode\times\else\texttimes\fi{}\ensuremath{\ell})\text{ }[\mathrm{Theory},\ensuremath{\tau}]$ to be compared with the experimental number, ${10}^{11}\ifmmode\times\else\texttimes\fi{}{a}_{\ensuremath{\mu}}=116\text{ }592\text{ }080\ifmmode\pm\else\textpm\fi{}60$. In the theoretical evaluations, the first quantity does not, and the second one does, use information from $\ensuremath{\tau}$ decay. The first errors for the theoretical evaluations include statistical plus systematic errors; the other ones are the estimated errors due to incomplete treatment of radiative corrections and the estimated error in the light-by-light scattering contribution. We thus have a significant mismatch between theory and experiment. We also use part of the theoretical calculations to give a precise evaluation of the electromagnetic coupling on the $Z$, ${\overline{\ensuremath{\alpha}}}_{\mathrm{QED}}({M}_{Z}^{2})$, of the masses and widths of the (charged and neutral) rho resonances, of the scattering length and effective range for the $P$ wave in $\ensuremath{\pi}\ensuremath{\pi}$ scattering, and of the quadratic radius and second coefficient of the pion form factor.
High‐frequency modes in solar‐like stars

p-mode oscillations in solar-like stars are excited by the outer convection zone in these stars and reflected close to the surface. The p modes are trapped inside an acoustic cavity, but the modes only stay trapped up to a given frequency [known as the acoustic cut-off frequency (νac)] as modes with larger frequencies are generally not reflected at the surface. This means that modes with frequency larger than the acoustic cut-off frequency must be travelling waves. The high-frequency modes may provide information about the physics in the outer layers of the stars and the excitation source and are therefore highly interesting as it is the estimation of these two phenomena that cause some of the largest uncertainties when calculating stellar oscillations. High-frequency modes have been detected in the Sun, in β Hydri and in α Cen A and α Cen B by smoothing the so-called echelle diagram and the large frequency separation as a function of frequency has been estimated. The large frequency separation has been compared with a simple model of the acoustic cavity which suggests that the reflectivity of the photosphere is larger at high frequency than predicted by standard models of the solar atmosphere and that the depth of the excitation source is larger than what has been estimated by other models and might depend on the order n and degree l of the modes.
Variability and trends in total and vertically resolved stratospheric ozone based on the CATO ozone data set

Trends in ozone columns and vertical distributions were calculated for the period 1979–2004 based on the ozone data set CATO (Candidoz Assimilated Three-dimensional Ozone) using a multiple linear regression model. CATO has been reconstructed from TOMS, GOME and SBUV total column ozone observations in an equivalent latitude and potential temperature framework and offers a pole to pole coverage of the stratosphere on 15 potential temperature levels. The regression model includes explanatory variables describing the influence of the quasi-biennial oscillation (QBO), volcanic eruptions, the solar cycle, the Brewer-Dobson circulation, Arctic ozone depletion, and the increase in stratospheric chlorine. The effects of displacements of the polar vortex and jet streams due to planetary waves, which may significantly affect trends at a given geographical latitude, are eliminated in the equivalent latitude framework. The QBO shows a strong signal throughout most of the lower stratosphere with peak amplitudes in the tropics of the order of 10–20% (peak to valley). The eruption of Pinatubo led to annual mean ozone reductions of 15–25% between the tropopause and 23 km in northern mid-latitudes and to similar percentage changes in the southern hemisphere but concentrated at altitudes below 17 km. Stratospheric ozone is elevated over a broad latitude range by up to 5% during solar maximum compared to solar minimum, the largest increase being observed around 30 km. This is at a lower altitude than reported previously, and no negative signal is found in the tropical lower stratosphere. The Brewer-Dobson circulation shows a dominant contribution to interannual variability at both high and low latitudes and accounts for some of the ozone increase seen in the northern hemisphere since the mid-1990s. Arctic ozone depletion significantly affects the high northern latitudes between January and March and extends its influence to the mid-latitudes during later months. The vertical distribution of the ozone trend shows distinct negative trends at about 18 km in the lower stratosphere with largest declines over the poles, and above 35 km in the upper stratosphere. A narrow band of large negative trends extends into the tropical lower stratosphere. Assuming that the observed negative trend before 1995 continued to 2004 cannot explain the ozone changes since 1996. A model accounting for recent changes in equivalent effective stratospheric chlorine, aerosols and Eliassen-Palm flux, on the other hand, closely tracks ozone changes since 1995.
How Do Principals Respond to Charter School Competition? Research Brief.

Conducting innovative, independent research on school choice in all its forms Since the first charter school opened in 1992, the number of charter schools has grown to more than 4,000 in 40 states. Given the priorities of the Obama administration and recent changes in state education policies, charter schools are expected to see further growth in the years to come. In response to this dramatic growth in charter schools, there has been a great deal of research comparing student achievement and operations in charter schools and traditional public schools (Betts, Hill, & Charter School Achievement Consensus Panel, 2006; Buddin & Zimmer, 2005). Few studies, however, have examined how principals in noncharter schools perceive and respond to competition from charter schools—those that have addressed this question have found mixed results (Betts, 2009). The current study from the National Center on School Choice contributes to the research by exploring the factors that affect principals’ perceptions of charter school competition and the extent to which their leadership behavior may change in response. Central research questions of the study were: