696 research outputs found
A portable high power diode laser-based single-stage ceramic tile grout sealing system
By means of a 60 W high power diode laser (HPDL) and a specially developed grout material the void between adjoining ceramic tiles has been successfully sealed. A single-stage process has been developed which uses a crushed ceramic tile mix to act as a tough, inexpensive bulk substrate and a glazed enamel surface to provide an impervious surface glaze. The single-stage ceramic tile grout sealing process yielded seals produced in normal atmospheric conditions that displayed no discernible cracks and porosities. The single-stage grout is simple to formulate and easy to apply. Tiles were successfully sealed with power densities as low as 200 kW/mm2 and at rates of up to 600 mm/min. Bonding of the enamel to the crushed ceramic tile mix was identified as being primarily due to van der Waals forces and, on a very small scale, some of the crushed ceramic tile mix material dissolving into the glaze. In terms of mechanical, physical and chemical characteristics, the single-stage ceramic tile grout was found to be far superior to the conventional epoxy tile grout and, in many instances, matched and occasionally surpassed that of the ceramic tiles themselves. What is more, the development of a hand-held HPDL beam delivery unit and the related procedures necessary to lead to the commercialisation of the single-stage ceramic tile grout sealing process are presented. Further, an appraisal of the potential hazards associated with the use of the HPDL in an industrial environment and the solutions implemented to ensure that the system complies with the relevant safety standards are given
Semiparametric theory and empirical processes in causal inference
In this paper we review important aspects of semiparametric theory and
empirical processes that arise in causal inference problems. We begin with a
brief introduction to the general problem of causal inference, and go on to
discuss estimation and inference for causal effects under semiparametric
models, which allow parts of the data-generating process to be unrestricted if
they are not of particular interest (i.e., nuisance functions). These models
are very useful in causal problems because the outcome process is often complex
and difficult to model, and there may only be information available about the
treatment process (at best). Semiparametric theory gives a framework for
benchmarking efficiency and constructing estimators in such settings. In the
second part of the paper we discuss empirical process theory, which provides
powerful tools for understanding the asymptotic behavior of semiparametric
estimators that depend on flexible nonparametric estimators of nuisance
functions. These tools are crucial for incorporating machine learning and other
modern methods into causal inference analyses. We conclude by examining related
extensions and future directions for work in semiparametric causal inference
Mesoscopic proximity effect in double barrier Superconductor/Normal Metal junctions
We report transport measurements down to T=60mK of SININ and SNIN structures
in the diffusive limit. We fabricated Al-AlOx/Cu/AlOx/Cu (SININ) and
Al/Cu/AlOx/Cu (SNIN) vertical junctions. For the first time, a zero bias
anomaly was observed in a metallic SININ structure. We attribute this peak of
conductance to coherent multi-reflections of electrons between the two tunnel
barriers. This conductance maximum is quantitatively fitted by the relevant
theory of mesoscopic SININ structures. When the barrier at the SN interface is
removed (SNIN structure), we observe a peak of conductance at finite voltage
accompagnied by an excess of sub-gap conductance.Comment: 4 pages, 4 figures, editorially approved for publication in Phys.
Rev. B Rapid Com
Two monogenic disorders masquerading as one: severe congenital neutropenia with monocytosis and non-syndromic sensorineural hearing loss
Background: We report a large family with four successive generations, presenting with a complex phenotype of severe congenital neutropenia (SCN), partially penetrant monocytosis, and hearing loss of varying severity. Methods: We performed whole exome sequencing to identify the causative variants. Sanger sequencing was used to perform segregation analyses on remaining family members. Results: We identified and classified a pathogenic GFI1 variant and a likely pathogenic variant in MYO6 which together explain the complex phenotypes seen in this family. Conclusions: We present a case illustrating the benefits of a broad screening approach that allows identification of oligogenic determinants of complex human phenotypes which may have been missed if the screening was limited to a targeted gene panel with the assumption of a syndromic disorder. This is important for correct genetic diagnosis of families and disentangling the range and severity of phenotypes associated with high impact variants.Parvathy Venugopal, Lucia Gagliardi, Cecily Forsyth, Jinghua Feng, Kerry Phillips, Milena Babic, Nicola K. Poplawski, Hugh Young Rienhoff Jr, Andreas W. Schreiber, Christopher N. Hahn, Anna L. Brown, and Hamish S. Scot
Identification and targeted management of a neurodegenerative disorder caused by biallelic mutations in SLC5A6
We describe a sibling pair displaying an early infantile-onset, progressive neurodegenerative phenotype, with symptoms of developmental delay and epileptic encephalopathy developing from, to, months of age. Using whole exome sequencing, compound heterozygous variants were identified in SLC, A, which encodes the sodium-dependent multivitamin transporter, SMVT, protein. SMVT is an important transporter of the B-group vitamins biotin, pantothenate, and lipoate. The protein is ubiquitously expressed and has major roles in vitamin uptake in the digestive system, as well as transport of these vitamins across the blood, brain barrier. Pathogenicity of the identified variants was demonstrated by impaired biotin uptake of mutant SMVT. Identification of this vitamin transporter as the genetic basis of this disorder guided targeted therapeutic intervention, resulting clinically in improvement of the patient, s neurocognitive and neuromotor function. This is the second report of biallelic mutations in SLC, A, leading to a neurodegenerative disorder due to impaired biotin, pantothenate and lipoate uptake. The genetic and phenotypic overlap of these cases confirms mutations in SLC, A, as the genetic cause of this disease phenotype. Recognition of the genetic disorder caused by SLC, A, mutations is essential for early diagnosis and to facilitate timely intervention by triple vitamin, biotin, pantothenate, and lipoate, replacement therapy.Steven W. Polyak ... Andreas W. Schreiber ... Christopher N. Hahn ... Dylan A. Mordaunt ... Drago Bratkovic, Grant W. Booker, Nicholas J. Smith, Hamish S. Scot
The Kuiper Belt and Other Debris Disks
We discuss the current knowledge of the Solar system, focusing on bodies in
the outer regions, on the information they provide concerning Solar system
formation, and on the possible relationships that may exist between our system
and the debris disks of other stars. Beyond the domains of the Terrestrial and
giant planets, the comets in the Kuiper belt and the Oort cloud preserve some
of our most pristine materials. The Kuiper belt, in particular, is a
collisional dust source and a scientific bridge to the dusty "debris disks"
observed around many nearby main-sequence stars. Study of the Solar system
provides a level of detail that we cannot discern in the distant disks while
observations of the disks may help to set the Solar system in proper context.Comment: 50 pages, 25 Figures. To appear in conference proceedings book
"Astrophysics in the Next Decade
Search for composite and exotic fermions at LEP 2
A search for unstable heavy fermions with the DELPHI detector at LEP is
reported. Sequential and non-canonical leptons, as well as excited leptons and
quarks, are considered. The data analysed correspond to an integrated
luminosity of about 48 pb^{-1} at an e^+e^- centre-of-mass energy of 183 GeV
and about 20 pb^{-1} equally shared between the centre-of-mass energies of 172
GeV and 161 GeV. The search for pair-produced new leptons establishes 95%
confidence level mass limits in the region between 70 GeV/c^2 and 90 GeV/c^2,
depending on the channel. The search for singly produced excited leptons and
quarks establishes upper limits on the ratio of the coupling of the excited
fermio
Search for charginos in e+e- interactions at sqrt(s) = 189 GeV
An update of the searches for charginos and gravitinos is presented, based on
a data sample corresponding to the 158 pb^{-1} recorded by the DELPHI detector
in 1998, at a centre-of-mass energy of 189 GeV. No evidence for a signal was
found. The lower mass limits are 4-5 GeV/c^2 higher than those obtained at a
centre-of-mass energy of 183 GeV. The (\mu,M_2) MSSM domain excluded by
combining the chargino searches with neutralino searches at the Z resonance
implies a limit on the mass of the lightest neutralino which, for a heavy
sneutrino, is constrained to be above 31.0 GeV/c^2 for tan(beta) \geq 1.Comment: 22 pages, 8 figure
Search for Higgs bosons decaying to tautau pairs in ppbar collisions at sqrt(s) = 1.96 TeV
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
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