257 research outputs found
The area of horizons and the trapped region
This paper considers some fundamental questions concerning marginally trapped
surfaces, or apparent horizons, in Cauchy data sets for the Einstein equation.
An area estimate for outermost marginally trapped surfaces is proved. The proof
makes use of an existence result for marginal surfaces, in the presence of
barriers, curvature estimates, together with a novel surgery construction for
marginal surfaces. These results are applied to characterize the boundary of
the trapped region.Comment: 44 pages, v3: small changes in presentatio
Unconstrained mining of transcript data reveals increased alternative splicing complexity in the human transcriptome
Mining massive amounts of transcript data for alternative splicing information is paramount to help understand how the maturation of RNA regulates gene expression. We developed an algorithm to cluster transcript data to annotated genes to detect unannotated splice variants. A higher number of alternatively spliced genes and isoforms were found compared to other alternative splicing databases. Comparison of human and mouse data revealed a marked increase, in human, of splice variants incorporating novel exons and retained introns. Previously unannotated exons were validated by tiling array expression data and shown to correspond preferentially to novel first exons. Retained introns were validated by tiling array and deep sequencing data. The majority of retained introns were shorter than 500 nt and had weak polypyrimidine tracts. A subset of retained introns matching small RNAs and displaying a high GC content suggests a possible coordination between splicing regulation and production of noncoding RNAs. Conservation of unannotated exons and retained introns was higher in horse, dog and cow than in rodents, and 64% of exon sequences were only found in primates. This analysis highlights previously bypassed alternative splice variants, which may be crucial to deciphering more complex pathways of gene regulation in human.info:eu-repo/semantics/publishedVersio
Evaluation of Methodologies for Microrna Biomarker Detection by Next Generation Sequencing
In recent years, microRNAs (miRNAs) in tissues and biofluids have emerged as a new class of promising biomarkers for numerous diseases. Blood-based biomarkers are particularly desirable since serum or plasma is easily accessible and can be sampled repeatedly. To comprehensively explore the biomarker potential of miRNAs, sensitive, accurate and cost-efficient miRNA profiling techniques are required. Next generation sequencing (NGS) is emerging as the preferred method for miRNA profiling; offering high sensitivity, single-nucleotide resolution and the possibility to profile a considerable number of samples in parallel. Despite the excitement about miRNA biomarkers, challenges associated with insufficient characterization of the sequencing library preparation efficacy, precision and method-related quantification bias have not been addressed in detail and are generally underappreciated in the wider research community.
Here, we have tested in parallel four commercially available small RNA sequencing kits against a cohort of samples comprised of human plasma, human serum, murine brain tissue and a reference library containing ~ 950 synthetic miRNAs. We discuss the advantages and limits of these methodologies for massive parallel microRNAs profiling. This work can serve as guideline for choosing an adequate library preparation method, based on sensitivity, specificity and accuracy of miRNA quantification, workflow convenience and potential for automation
Generalized inverse mean curvature flows in spacetime
Motivated by the conjectured Penrose inequality and by the work of Hawking,
Geroch, Huisken and Ilmanen in the null and the Riemannian case, we examine
necessary conditions on flows of two-surfaces in spacetime under which the
Hawking quasilocal mass is monotone. We focus on a subclass of such flows which
we call uniformly expanding, which can be considered for null as well as for
spacelike directions. In the null case, local existence of the flow is
guaranteed. In the spacelike case, the uniformly expanding condition leaves a
1-parameter freedom, but for the whole family, the embedding functions satisfy
a forward-backward parabolic system for which local existence does not hold in
general. Nevertheless, we have obtained a generalization of the weak
(distributional) formulation of this class of flows, generalizing the
corresponding step of Huisken and Ilmanen's proof of the Riemannian Penrose
inequality.Comment: 21 pages, 1 figur
Apparent wave function collapse caused by scattering
Some experimental implications of the recent progress on wave function
collapse are calculated. Exact results are derived for the center-of-mass wave
function collapse caused by random scatterings and applied to a range of
specific examples. The results show that recently proposed experiments to
measure the GRW effect are likely to fail, since the effect of naturally
occurring scatterings is of the same form as the GRW effect but generally much
stronger. The same goes for attempts to measure the collapse caused by quantum
gravity as suggested by Hawking and others. The results also indicate that
macroscopic systems tend to be found in states with (Delta-x)(Delta-p) =
hbar/sqrt(2), but microscopic systems in highly tiltedly squeezed states with
(Delta-x)(Delta-p) >> hbar.Comment: Final published version. 20 pages, Plain TeX, no figures. Online at
http://astro.berkeley.edu/~max/collapse.html (faster from the US), from
http://www.mpa-garching.mpg.de/~max/collapse.html (faster from Europe) or
from [email protected]
Primary growth hormone insensitivity (Laron syndrome) and acquired hypothyroidism: a case report
<p>Abstract</p> <p>Introduction</p> <p>Primary growth hormone resistance or growth hormone insensitivity syndrome, also known as Laron syndrome, is a hereditary disease caused by deletions or different types of mutations in the growth hormone receptor gene or by post-receptor defects. This disorder is characterized by a clinical appearance of severe growth hormone deficiency with high levels of circulating growth hormone in contrast to low serum insulin-like growth factor 1 values.</p> <p>Case presentation</p> <p>We report the case of a 15-year-old Caucasian girl who was diagnosed with Silver-Russell syndrome at the age of four and a half years. Recombinant growth hormone was administered for 18 months without an appropriate increase in growth velocity. At the age of seven years, her serum growth hormone levels were high, and an insulin-like growth factor 1 generation test did not increase insulin-like growth factor 1 levels (baseline insulin-like growth factor 1 levels, 52 μg/L; reference range, 75 μg/L to 365 μg/L; and peak, 76 μg/L and 50 μg/L after 12 and 84 hours, respectively, from baseline). The genetic analysis showed that the patient was homozygous for the R217X mutation in the growth hormone receptor gene, which is characteristic of Laron syndrome. On the basis of these results, the diagnosis of primary growth hormone insensitivity syndrome was made, and recombinant insulin-like growth factor 1 therapy was initiated. The patient's treatment was well tolerated, but unexplained central hypothyroidism occurred at the age of 12.9 years. At the age of 15 years, when the patient's sexual development was almost completed and her menstrual cycle occurred irregularly, her height was 129.8 cm, which is 4.71 standard deviations below the median for normal girls her age.</p> <p>Conclusion</p> <p>The most important functional tests for the diagnosis of growth hormone insensitivity are the insulin-like growth factor 1 generation test and genetic analysis. Currently, the only effective treatment is daily administration of recombinant insulin-like growth factor 1 starting from early childhood. However, these patients show a dramatically impaired final height. In our case, unexplained central hypothyroidism occurred during treatment.</p
Does the universe in fact contain almost no information?
At first sight, an accurate description of the state of the universe appears
to require a mind-bogglingly large and perhaps even infinite amount of
information, even if we restrict our attention to a small subsystem such as a
rabbit. In this paper, it is suggested that most of this information is merely
apparent, as seen from our subjective viewpoints, and that the algorithmic
information content of the universe as a whole is close to zero. It is argued
that if the Schr\"odinger equation is universally valid, then decoherence
together with the standard chaotic behavior of certain non-linear systems will
make the universe appear extremely complex to any self-aware subsets that
happen to inhabit it now, even if it was in a quite simple state shortly after
the big bang. For instance, gravitational instability would amplify the
microscopic primordial density fluctuations that are required by the Heisenberg
uncertainty principle into quite macroscopic inhomogeneities, forcing the
current wavefunction of the universe to contain such Byzantine superpositions
as our planet being in many macroscopically different places at once. Since
decoherence bars us from experiencing more than one macroscopic reality, we
would see seemingly complex constellations of stars etc, even if the initial
wavefunction of the universe was perfectly homogeneous and isotropic.Comment: 17 pages, LATeX, no figures. Online with refs at
http://astro.berkeley.edu/~max/nihilo.html (faster from the US), from
http://www.mpa-garching.mpg.de/~max/nihilo.html (faster from Europe) or from
[email protected]
Mass and Angular Momentum in General Relativity
We present an introduction to mass and angular momentum in General
Relativity. After briefly reviewing energy-momentum for matter fields, first in
the flat Minkowski case (Special Relativity) and then in curved spacetimes with
or without symmetries, we focus on the discussion of energy-momentum for the
gravitational field. We illustrate the difficulties rooted in the Equivalence
Principle for defining a local energy-momentum density for the gravitational
field. This leads to the understanding of gravitational energy-momentum and
angular momentum as non-local observables that make sense, at best, for
extended domains of spacetime. After introducing Komar quantities associated
with spacetime symmetries, it is shown how total energy-momentum can be
unambiguously defined for isolated systems, providing fundamental tests for the
internal consistency of General Relativity as well as setting the conceptual
basis for the understanding of energy loss by gravitational radiation. Finally,
several attempts to formulate quasi-local notions of mass and angular momentum
associated with extended but finite spacetime domains are presented, together
with some illustrations of the relations between total and quasi-local
quantities in the particular context of black hole spacetimes. This article is
not intended to be a rigorous and exhaustive review of the subject, but rather
an invitation to the topic for non-experts. In this sense we follow essentially
the expositions in Szabados 2004, Gourgoulhon 2007, Poisson 2004 and Wald 84,
and refer the reader interested in further developments to the existing
literature, in particular to the excellent and comprehensive review by Szabados
(2004).Comment: 41 pages. Notes based on the lecture given at the C.N.R.S. "School on
Mass" (June 2008) in Orleans, France. To appear as proceedings in the book
"Mass and Motion in General Relativity", eds. L. Blanchet, A. Spallicci and
B. Whiting. Some comments and references added
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