169 research outputs found
3D numerical simulations of oscillations in solar prominences
Oscillations in solar prominences are a frequent phenomenon, and they have
been the subject of many studies. A full understanding of the mechanisms that
drive them and their attenuation has not been reached yet. We numerically
investigate the periodicity and damping of transverse and longitudinal
oscillations in a 3D model of a curtain-shaped prominence. We carried out a set
of numerical simulations of vertical, transverse and longitudinal oscillations
with the high-order finite-difference Pencil Code. We solved the ideal
magnetohydrodynamic (MHD) equations for a wide range of parameters, including
the width and density of the prominence, and the magnetic field strength (B) of
the solar corona. We studied the periodicity and attenuation of the induced
oscillations. We found that longitudinal oscillations can be fit with the
pendulum model, whose restoring force is the field aligned component of
gravity, but other mechanisms such as pressure gradients may contribute to the
movement. On the other hand, transverse oscillations are subject to magnetic
forces. The analysis of the parametric survey shows, in agreement with
observational studies, that the oscillation period (P) increases with the
prominence width. For transverse oscillations we obtained that P increases with
density and decreases with B. For longitudinal oscillations we also found that
P increases with density, but there are no variations with B. The attenuation
of transverse oscillations was investigated by analysing the velocity
distribution and computing the Alfv\'en continuum modes. We conclude that
resonant absorption is the mean cause. Damping of longitudinal oscillations is
due to some kind of shear numerical viscosity
Gravitational instability of solar prominence threads I. Curved magnetic fields without dips
Prominence threads are dense and cold structures lying on curved magnetic
fields that can be suspended in the solar atmosphere against gravity. The
gravitational stability of threads, in the absence of non-ideal effects, is
comprehensively investigated in the present work by means of an elementary but
effective model. Based on purely hydrodynamic equations in one spatial
dimension and applying line-tying conditions at the footpoints of the magnetic
field lines, we derive analytical expressions for the different feasible
equilibria and the corresponding frequencies of oscillation. We find that the
system allows for stable and unstable equilibrium solutions subject to the
initial position of the thread, its density contrast and length, and the total
length of the magnetic field lines. The transition between the two types of
solutions is produced at specific bifurcation points that have been determined
analytically in some particular cases. When the thread is initially at the top
of the concave magnetic field, that is at the apex, we find a supercritical
pitchfork bifurcation, while for a shifted initial thread position with respect
to this point the symmetry is broken and the system is characterised by an
S-shaped bifurcation. The plain results presented in this paper shed new light
on the behaviour of threads in curved magnetic fields under the presence of
gravity and help to interpret more complex numerical magnetohydrodynamics (MHD)
simulations about similar structures.Comment: 13 pages, 9 figure
Molecular analysis of thyroglobulin mutations found in patients with goiter and hypothyroidism
Thyroid dyshormonogenesis due to thyroglobulin (TG) gene mutations have an estimated incidence of approximately 1 in 100,000 newborns. The clinical spectrum ranges from euthyroid to mild or severe hypothyroidism. Up to now, one hundred seventeen deleterious mutations in the TG gene have been identified and characterized. The purpose of the present study was to identify and characterize new mutations in the TG gene. We report eight patients from seven unrelated families with goiter, hypothyroidism and low levels of serum TG. All patients underwent clinical, biochemical and image evaluation. Sequencing of DNA, genotyping, as well as bioinformatics analysis were performed.
Molecular analyses revealed three novel inactivating TG mutations: c.5560G>T [p.E1835*], c.7084G>C [p.A2343P] and c.7093T>C [p.W2346R], and four previously reported mutations: c.378C>A [p.Y107*], c.886C>T [p.R277*], c.1351C>T [p.R432*] and c.7007G>A [p.R2317Q]. Two patients carried homozygous mutations (p.R277*/p.R277*, p.W2346R/p.W2346R), four were compound heterozygous mutations (p.Y107*/p.R277* (two unrelated patients), p.R432*/p.A2343P, p.Y107*/p.R2317Q) and two siblings from another family had a single p.E1835* mutated allele. Additionally, we include the analysis of 48 patients from 31 unrelated families with TG mutations identified in our present and previous studies. Our observation shows that mutations in both TG alleles were found in 27 families (9 as homozygote and 18 as heterozygote compound), whereas in the remaining four families only one mutated allele was detected. The majority of the detected mutations occur in exons 4, 7, 38 and 40. 28 different mutations were identified, 33 of the 96 TG alleles encoded the change p.R277*. In conclusion, our results confirm the genetic heterogeneity of TG defects and the pathophysiological importance of the predicted TG misfolding and therefore thyroid hormone formation as a consequence of truncated TG proteins and/or missense mutations located within its ACHE-like domain.This study was funded by grants from the FONCyT-ANPCyT-MINCyT (PICT 2014-1193 to CMR, PICT 2012-1090 and PICT 2015–1811 to HMT), CONICET (PIP 2015-11220150100499 to CMR) and Universidad de Buenos Aires (UBACyT 2016-20020150100099BA to CMR)
Mutational screening of the TPO and DUOX2 genes in Argentinian children with congenital hypothyroidism due to thyroid dyshormonogenesis
[Purpose]: Primary congenital hypothyroidism (CH) is the most common endocrine disease in children and one of the preventable causes of both cognitive and motor deficits. We present a genetic and bioinformatics investigation of rational clinical design in 17 Argentine patients suspected of CH due to thyroid dyshormonogenesis (TDH).
[Methods]: Next-Generation Sequencing approach was used to identify variants in Thyroid Peroxidase (TPO) and Dual Oxidase 2 (DUOX2) genes. A custom panel targeting 7 genes associated with TDH [(TPO), Iodothyrosine Deiodinase I (IYD), Solute Carrier Family 26 Member 4 (SLC26A4), Thyroglobulin (TG), DUOX2, Dual Oxidase Maturation Factor 2 (DUOXA2), Solute Carrier Family 5 Member 5 (SLC5A5)] and 4 associated with thyroid dysembryogenesis [PAX8, FOXE1, NKX2-1, Thyroid Stimulating Hormone Receptor (TSHR)] has been designed. Additionally, bioinformatic analysis and structural modeling were carried out to predict the disease-causing potential variants.
[Results]: Four novel variants have been identified, two in TPO: c.2749-2 A > C and c.2752_2753delAG, [p.Ser918Cysfs*62] and two variants in DUOX2 gene: c.425 C > G [p.Pro142Arg] and c.2695delC [p.Gln899Serfs*21]. Eighteen identified TPO, DUOX2 and IYD variants were previously described. We identified potentially pahogenic biallelic variants in TPO and DUOX2 in 7 and 2 patients, respectively. We also detected a potentially pathogenic monoallelic variant in TPO and DUOX2 in 7 and 1 patients respectively.
[Conclusions]: 22 variants have been identified associated with TDH. All described novel mutations occur in domains important for protein structure and function, predicting the TDH phenotype.This study was funded by grants from the Fondo para la Investigación Científica y Tecnológica (FONCyT-ANPCyT-MINCyT, PICT 2014-1193 to CMR, PICT 2015-1811 and PICT-2018-02146 to H.M.T.), CONICET (PIP 2015-11220150100499 to C.M.R.), Universidad de Buenos Aires (UBACyT 2016-20020150100099BA and 2020-20020190100050BA to C.M.R.) and Fondo de Investigación Sanitaria/FEDER (PI16/01920 and PI20/01589 to R.G.-S.)
BOMET-QoL-10 questionnaire for breast cancer patients with bone metastasis: the prospective MABOMET GEICAM study
Bone metastasis (BM) is the most common site of disease in metastatic breast cancer (MBC) patients. BM impacts health-related quality of life (HRQoL). We tested prospectively the psychometric properties of the Bone Metastasis Quality of Life (BOMET-QoL-10) measure on MBC patients with BM.
Patients completed the BOMET-QoL-10 questionnaire, the Visual Analogue Scale (VAS) for pain, and a self-perceived health status item at baseline and at follow-up visits. We performed psychometric tests and calculated the effect size of specific BM treatment on patients´ HRQoL.
Almost 70% of the 172 patients reported symptoms, 23.3% experienced irruptive pain, and over half were receiving chemotherapy. BOMET-QoL-10 proved to be a quick assessment tool performing well in readability and completion time (about 10 min) with 0–1.2% of missing/invalid data. Although BOMET-QoL-10 scores remained fairly stable during study visits, differences were observed for patient subgroups (e.g., with or without skeletal-related events or adverse effects). Scores were significantly correlated with physician-reported patient status, patient-reported pain, symptoms, and perceived health status. BOMET-QoL-10 scores also varied prospectively according to changes in pain intensity.
BOMET-QoL-10 performed well as a brief, easy-to-administer, useful, and sensitive HRQoL measure for potential use for clinical practice with MBC patientsThis work was sponsored by GEICAM and Novartis. Roche funded the publication fees for this articl
The star forming region Monoceros R2 as a gamma-ray source
After the release of the gamma-ray source catalog produced by the Fermi satellite during its first two years of operation, a significant fraction of sources still remain unassociated at lower energies. In addition to well-known high-energy emitters (pulsars, blazars, supernova remnants, etc.), theoretical expectations predict new classes of gamma-ray sources. In particular, gamma-ray emission could be associated with some of the early phases of stellar evolution, but this interesting possibility is still poorly understood. Aims: The aim of this paper is to assess the possibility of the Fermi gamma-ray source 2FGL J0607.5-0618c being associated with the massive star forming region Monoceros R2. Methods: A multi-wavelength analysis of the Monoceros R2 region is carried out using archival data at radio, infrared, X-ray, and gamma-ray wavelengths. The resulting observational properties are used to estimate the physical parameters needed to test the different physical scenarios. Results: We confirm the 2FGL J0607.5-0618c detection with improved confidence over the Fermi two-year catalog. We find that a combined effect of the multiple young stellar objects in Monoceros R2 is a viable picture for the nature of the source
Frequency of breast cancer with hereditary risk features in Spain: Analysis from GEICAM “El Álamo III” retrospective study
Purpose: To determine the frequency of breast cancer (BC) patients with hereditary risk features in a wide retrospective cohort of patients in Spain. Methods: a retrospective analysis was conducted from 10, 638 BC patients diagnosed between 1998 and 2001 in the GEICAM registry “El Álamo III”, dividing them into four groups according to modified ESMO and SEOM hereditary cancer risk criteria: Sporadic breast cancer group (R0); Individual risk group (IR); Familial risk group (FR); Individual and familial risk group (IFR) with both individual and familial risk criteria. Results: 7, 641 patients were evaluable. Of them, 2, 252 patients (29.5%) had at least one hereditary risk criteria, being subclassified in: FR 1.105 (14.5%), IR 970 (12.7%), IFR 177 (2.3%). There was a higher frequency of newly diagnosed metastatic patients in the IR group (5.1% vs 3.2%, p = 0.02). In contrast, in RO were lower proportion of big tumors (> T2) (43.8% vs 47.4%, p = 0.023), nodal involvement (43.4% vs 48.1%, p = 0.004) and lower histological grades (20.9% G3 for the R0 vs 29.8%) when compared to patients with any risk criteria. Conclusions: Almost three out of ten BC patients have at least one hereditary risk cancer feature that would warrant further genetic counseling. Patients with hereditary cancer risk seems to be diagnosed with worse prognosis factors
Detection of bridge emission above 50 GeV from the Crab pulsar with the MAGIC telescopes
The Crab pulsar is the only astronomical pulsed source detected at very high
energy (VHE, E>100GeV) gamma-rays. The emission mechanism of VHE pulsation is
not yet fully understood, although several theoretical models have been
proposed. In order to test the new models, we measured the light curve and the
spectra of the Crab pulsar with high precision by means of deep observations.
We analyzed 135 hours of selected MAGIC data taken between 2009 and 2013 in
stereoscopic mode. In order to discuss the spectral shape in connection with
lower energies, 4.6 years of {\it Fermi}-LAT data were also analyzed. The known
two pulses per period were detected with a significance of and
. In addition, significant emission was found between the two
pulses with . We discovered the bridge emission above 50 GeV
between the two main pulses. This emission can not be explained with the
existing theories. These data can be used for testing new theoretical models.Comment: 5 pages, 4 figure
Measurement of the Crab Nebula spectrum over three decades in energy with the MAGIC telescopes
The MAGIC stereoscopic system collected 69 hours of Crab Nebula data between
October 2009 and April 2011. Analysis of this data sample using the latest
improvements in the MAGIC stereoscopic software provided an unprecedented
precision of spectral and night-by-night light curve determination at gamma
rays. We derived a differential spectrum with a single instrument from 50 GeV
up to almost 30 TeV with 5 bins per energy decade. At low energies, MAGIC
results, combined with Fermi-LAT data, show a flat and broad Inverse Compton
peak. The overall fit to the data between 1 GeV and 30 TeV is not well
described by a log-parabola function. We find that a modified log-parabola
function with an exponent of 2.5 instead of 2 provides a good description of
the data (). Using systematic uncertainties of red the MAGIC and
Fermi-LAT measurements we determine the position of the Inverse Compton peak to
be at (53 3stat + 31syst -13syst) GeV, which is the most precise
estimation up to date and is dominated by the systematic effects. There is no
hint of the integral flux variability on daily scales at energies above 300 GeV
when systematic uncertainties are included in the flux measurement. We consider
three state- of-the-art theoretical models to describe the overall spectral
energy distribution of the Crab Nebula. The constant B-field model cannot
satisfactorily reproduce the VHE spectral measurements presented in this work,
having particular difficulty reproducing the broadness of the observed IC peak.
Most probably this implies that the assumption of the homogeneity of the
magnetic field inside the nebula is incorrect. On the other hand, the
time-dependent 1D spectral model provides a good fit of the new VHE results
when considering a 80 {\mu}G magnetic field. However, it fails to match the
data when including the morphology of the nebula at lower wavelengths.Comment: accepted by JHEAp, 9 pages, 6 figure
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