334 research outputs found
The Friedreich's ataxia mutation may originate from a premutation and shows size reduction when transmitted from parent to affected child
Most trinucleotide repeat mutations cause dominant or X linked neurological disorders and show progressive increase in size from affected parent to affected child, the basis of phenotypic anticipation. Friedreich's ataxia (FA) is a recessive disorder in which gene dysfunction is due to an expansion of a GAA trinucleotide repeat in intron one which reduces mRNA and protein levels. We confirm that the severity of the disorder in our population depends upon the repeat length of the smaller allele, to a point where those with smaller alleles may be mis-diagnosed with other conditions such as spastic paraparesis. Two brothers were found to be heterozygou1; for the expansion and a point mutation (G to T) which leads to G130V. These patients have an atypical clinical phenotype. From studying 81 transmissions.we demonstrate that the repeat number of the expansion in FA usually decreases in size from parent to affected child, and that this affect is particularly marked in the paternal allele. No expanded alleles were found in the range between 22 and 332 trinucleotides with one important exception, a carrier with an intermediate repeat size of approximately 100. When this allele was transmitted to the affected child, the repeat increased in size either probably to 538 or possible to 1036. Analysis of a sperm sample from this carrier showed a major band for the expanded allele of 320 repeats. These data suggest that there may be a premutation for Friedrelch's ataxia carriers, similar to that demonstrated for FraX-A and that expansion occurs in two stages, the first during meiosis followed by a second mitotic expansion
Optical nanofibers and spectroscopy
We review our recent progress in the production and characterization of
tapered optical fibers with a sub-wavelength diameter waist. Such fibers
exhibit a pronounced evanescent field and are therefore a useful tool for
highly sensitive evanescent wave spectroscopy of adsorbates on the fiber waist
or of the medium surrounding. We use a carefully designed flame pulling process
that allows us to realize preset fiber diameter profiles. In order to determine
the waist diameter and to verify the fiber profile, we employ scanning electron
microscope measurements and a novel accurate in situ optical method based on
harmonic generation. We use our fibers for linear and non-linear absorption and
fluorescence spectroscopy of surface-adsorbed organic molecules and investigate
their agglomeration dynamics. Furthermore, we apply our spectroscopic method to
quantum dots on the surface of the fiber waist and to caesium vapor surrounding
the fiber. Finally, towards dispersive measurements, we present our first
results on building and testing a single-fiber bi-modal interferometer.Comment: 13 pages, 18 figures. Accepted for publication in Applied Physics B.
Changes according to referee suggestions: changed title, clarification of
some points in the text, added references, replacement of Figure 13
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
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
Measurement of the Bottom-Strange Meson Mixing Phase in the Full CDF Data Set
We report a measurement of the bottom-strange meson mixing phase \beta_s
using the time evolution of B0_s -> J/\psi (->\mu+\mu-) \phi (-> K+ K-) decays
in which the quark-flavor content of the bottom-strange meson is identified at
production. This measurement uses the full data set of proton-antiproton
collisions at sqrt(s)= 1.96 TeV collected by the Collider Detector experiment
at the Fermilab Tevatron, corresponding to 9.6 fb-1 of integrated luminosity.
We report confidence regions in the two-dimensional space of \beta_s and the
B0_s decay-width difference \Delta\Gamma_s, and measure \beta_s in [-\pi/2,
-1.51] U [-0.06, 0.30] U [1.26, \pi/2] at the 68% confidence level, in
agreement with the standard model expectation. Assuming the standard model
value of \beta_s, we also determine \Delta\Gamma_s = 0.068 +- 0.026 (stat) +-
0.009 (syst) ps-1 and the mean B0_s lifetime, \tau_s = 1.528 +- 0.019 (stat) +-
0.009 (syst) ps, which are consistent and competitive with determinations by
other experiments.Comment: 8 pages, 2 figures, Phys. Rev. Lett 109, 171802 (2012
Saethre-Chotzen syndrome : cranofacial anomalies caused by genetic changes in the TWIST gene
In this thesis, one of the most frequently occurring and most variable craniosynostosis
syndromes was investigated; Saethre-Chotzen syndrome. Craniosynostosis is the premature
obliteration of cranial sutures in the developing embryo. It can also occur in the first few
months of life. Saethre-Chotzen syndrome is, besides craniosynostosis, characterized by
specific facial and limb abnormalities, of which the most frequently reported are ptosis,
prominent crus helicis, cutaneous syndactyly of digit 2 and 3 on both hands and feet, and
broad halluces. Saethre-Chotzen syndrome has been linked to the TWIST gene on
chromosome 7p21.1. Mutations in and variably sized deletions of this gene can be found in
patients with clinical features of Saethre-Chotzen syndrome. The latter, TWIST deletions,
often also include part of the surrounding chromosome 7p and are reported to be associated
with mental retardation. In Saethre-Chotzen patients, in whom neither a mutation nor a
deletion of TWIST had been found, the FGFR3 P250R mutation was in some cases detected.
This mutation has specifically been linked to Muenke syndrome that is characterized by unior
bicoronal synostosis and slight facial dysmorphology. However, a Saethre-Chotzen like
phenotype can also result from this mutation.
Because of the possible overlap of Saethre-Chotzen with Muenke syndrome, these syndromes
were studied in order to provide clinical criteria that discriminate between the two (chapter 4).
Many phenotypic features occur in both syndromes. In addition, although unicoronal
synostosis occurs slightly more frequently in Muenke syndrome, unicoronal and bicoronal
synostosis are seen in both syndromes. The discrimination between Saethre-Chotzen and
Muenke is often not made easily and the associated genes, TWIST and FGFR3, respectively,
are simultaneously tested for pathogenic m
Geographical and temporal distribution of SARS-CoV-2 clades in the WHO European Region, January to June 2020
We show the distribution of SARS-CoV-2 genetic clades over time and between countries and outline potential genomic surveillance objectives. We applied three available genomic nomenclature systems for SARS-CoV-2 to all sequence data from the WHO European Region available during the COVID-19 pandemic until 10 July 2020. We highlight the importance of real-time sequencing and data dissemination in a pandemic situation. We provide a comparison of the nomenclatures and lay a foundation for future European genomic surveillance of SARS-CoV-2.Peer reviewe
Search for chargino-neutralino production in ppbar collisions at sqrt(s) = 1.96 TeV
We present the results of a search for associated production of the chargino
and neutralino supersymmetric particles using up to 1.1 fb-1 of integrated
luminosity collected by the CDF II experiment at the Tevatron ppbar collider at
a center-of-mass energy of 1.96 TeV. The search is conducted by analyzing
events with a large transverse momentum imbalance and either three charged
leptons or two charged leptons of the same electric charge. The numbers of
observed events are found to be consistent with standard model expectations.
Upper limits on the production cross section are derived in different
theoretical models. In one of these models a lower limit on the mass of the
chargino is set at 129 GeV/c^2 at the 95% confidence level.Comment: To be submitted to Phys.Rev.Let
Measurement of the Bs Lifetime in Fully and Partially Reconstructed Bs -> Ds- (phi pi-)X Decays in pbar-p Collisions at sqrt(s) = 1.96 TeV
We present a measurement of the Bs lifetime in fully and partially
reconstructed Bs -> Ds(phi pi)X decays in 1.3 fb-1 of pbar-p collisions at
sqrt(s) = 1.96 TeV collected by the CDF II detector at the Fermilab Tevatron.
We measure tau(Bs) = 1.518 +/- 0.041 (stat.) +/- 0.027 (syst.) ps. The ratio of
this result and the world average B0 lifetime yields tau(Bs)/tau(B0) = 0.99
+/-0.03, which is in agreement with recent theoretical predictions.Comment: submitted to Phys. Rev. Let
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