1,377 research outputs found
An isodiametric problem with lattice-point constraints
BRIEF FROM OF FINAL PETITIONERS/APPELLANTS APPEAL FROM FINAL ORDER OF INDUSTRIAL COMMISSIO
The Lag Model Applied to High Speed Flows
The Lag model has shown great promise in prediction of low speed and transonic separations. The predictions of the model, along with other models (Spalart-Allmaras and Menter SST) are assessed for various high speed flowfields. In addition to skin friction and separation predictions, the prediction of heat transfer are compared among these models, and some fundamental building block flowfields, are investigated
Review and meta-analysis of genetic polymorphisms associated with exceptional human longevity
Background
Many factors contribute to exceptional longevity, with genetics playing a significant role. However, to date, genetic studies examining exceptional longevity have been inconclusive. This comprehensive review seeks to determine the genetic variants associated with exceptional longevity by undertaking meta-analyses.
Methods
Meta-analyses of genetic polymorphisms previously associated with exceptional longevity (85+) were undertaken. For each variant, meta-analyses were performed if there were data from at least three independent studies available, including two unpublished additional cohorts.
Results
Five polymorphisms, ACE rs4340, APOE ε2/3/4, FOXO3A rs2802292, KLOTHO KL-VS and IL6 rs1800795 were significantly associated with exceptional longevity, with the pooled effect sizes (odds ratios) ranging from 0.42 (APOE ε4) to 1.45 (FOXO3A males).
Conclusion
In general, the observed modest effect sizes of the significant variants suggest many genes of small influence play a role in exceptional longevity, which is consistent with results for other polygenic traits. Our results also suggest that genes related to cardiovascular health may be implicated in exceptional longevity. Future studies should examine the roles of gender and ethnicity and carefully consider study design, including the selection of appropriate controls
On positivity of Ehrhart polynomials
Ehrhart discovered that the function that counts the number of lattice points
in dilations of an integral polytope is a polynomial. We call the coefficients
of this polynomial Ehrhart coefficients, and say a polytope is Ehrhart positive
if all Ehrhart coefficients are positive (which is not true for all integral
polytopes). The main purpose of this article is to survey interesting families
of polytopes that are known to be Ehrhart positive and discuss the reasons from
which their Ehrhart positivity follows. We also include examples of polytopes
that have negative Ehrhart coefficients and polytopes that are conjectured to
be Ehrhart positive, as well as pose a few relevant questions.Comment: 40 pages, 7 figures. To appear in in Recent Trends in Algebraic
Combinatorics, a volume of the Association for Women in Mathematics Series,
Springer International Publishin
Reionization by active sources and its effects on the cosmic microwave background
We investigate the possible effects of reionization by active sources on the
cosmic microwave background. We concentrate on the sources themselves as the
origin of reionization, rather than early object formation, introducing an
extra period of heating motivated by the active character of the perturbations.
Using reasonable parameters, this leads to four possibilities depending on the
time and duration of the energy input: delayed last scattering, double last
scattering, shifted last scattering and total reionization. We show that these
possibilities are only very weakly constrained by the limits on spectral
distortions from the COBE FIRAS measurements. We illustrate the effects of
these reionization possibilities on the angular power spectrum of temperature
anisotropies and polarization for simple passive isocurvature models and simple
coherent sources, observing the difference between passive and active models.
Finally, we comment on the implications of this work for more realistic active
sources, such as causal white noise and topological defect models. We show for
these models that non-standard ionization histories can shift the peak in the
CMB power to larger angular scales.Comment: 21 pages LaTeX with 11 eps figures; replaced with final version
accepted for publication in Phys. Rev.
Science-Technology-Society (STS): a new paradigm in Science Education
publication-status: Publishedtypes: ArticleChanges in the past two decades of goals for science education in schools have induced new orientations in science education worldwide. One of the emerging complementary approaches was the science-technology-society (STS) movement. STS has been called the current megatrend in science education. Others have called it a paradigm shift for the field of science education. The success of science education reform depends on teachers' ability to integrate the philosophy and practices of current programs of science education reform with their existing philosophy. Thus, when considering the STS approach to science education, teacher beliefs about STS implementation require attention. Without this attention, negative beliefs concerning STS implementation and inquiry learning could defeat the reform movements emphasizing STS. This article argues the role of STS in science education and the importance of considering science teachers' beliefs about STS in implementing significant reforms in science education
EUV Analysis of a Quasi-Static Coronal Loop Structure
Decaying active region 10942 is investigated from 4:00-16:00 UT on February
24, 2007 using a suite of EUV observing instruments. Results from Hinode/EIS,
STEREO and TRACE show that although the active region has decayed and no
sunspot is present, the physical mechanisms that produce distinguishable loop
structures, spectral line broadening, and plasma flows still occur. A coronal
loop that appears as a blue-shifted structure in Doppler maps is apparent in
intensity images of log(T) = 6.0-6.3 ions. The loop structure is found to be
anti-correlated with spectral line broadening generally attributed to
nonthermal velocities. This coronal loop structure is investigated physically
(temperature, density, geometry) and temporally. Lightcurves created from
imaging instruments show brightening and dimming of the loop structure on two
different time scales; short pulses of 10-20 min and long duration dimming of
2-4 hours until its disappearance. The coronal loop structure, formed from
relatively blue-shifted material that is anti-correlated with spectral line
broadening, shows a density of 10^10 to 10^9.3 cm-3 and is visible for longer
than characteristic cooling times. The maximum nonthermal spectral line
broadenings are found to be adjacent to the footpoint of the coronal loop
structure.Comment: 26 pages, 13 figures; Solar Physics 201
Disruption of PHF21A causes syndromic intellectual disability with craniofacial anomalies, epilepsy, hypotonia, and neurobehavioral problems including autism
BACKGROUND: PHF21A has been associated with intellectual disability and craniofacial anomalies based on its deletion in the Potocki-Shaffer syndrome region at 11p11.2 and its disruption in three patients with balanced translocations. In addition, three patients with de novo truncating mutations in PHF21A were reported recently. Here, we analyze genomic data from seven unrelated individuals with mutations in PHF21A and provide detailed clinical descriptions, further expanding the phenotype associated with PHF21A haploinsufficiency. METHODS: Diagnostic trio whole exome sequencing, Sanger sequencing, use of GeneMatcher, targeted gene panel sequencing, and MiSeq sequencing techniques were used to identify and confirm variants. RT-qPCR was used to measure the normal expression pattern of PHF21A in multiple human tissues including 13 different brain tissues. Protein-DNA modeling was performed to substantiate the pathogenicity of the missense mutation. RESULTS: We have identified seven heterozygous coding mutations, among which six are de novo (not maternal in one). Mutations include four frameshifts, one nonsense mutation in two patients, and one heterozygous missense mutation in the AT Hook domain, predicted to be deleterious and likely to cause loss of PHF21A function. We also found a new C-terminal domain composed of an intrinsically disordered region. This domain is truncated in six patients and thus likely to play an important role in the function of PHF21A, suggesting that haploinsufficiency is the likely underlying mechanism in the phenotype of seven patients. Our results extend the phenotypic spectrum of PHF21A mutations by adding autism spectrum disorder, epilepsy, hypotonia, and neurobehavioral problems. Furthermore, PHF21A is highly expressed in the human fetal brain, which is consistent with the neurodevelopmental phenotype. CONCLUSION: Deleterious nonsense, frameshift, and missense mutations disrupting the AT Hook domain and/or an intrinsically disordered region in PHF21A were found to be associated with autism spectrum disorder, epilepsy, hypotonia, neurobehavioral problems, tapering fingers, clinodactyly, and syndactyly, in addition to intellectual disability and craniofacial anomalies. This suggests that PHF21A is involved in autism spectrum disorder and intellectual disability, and its haploinsufficiency causes a diverse neurological phenotype
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