Different types of mutations in the
DMD
gene underlie Duchenne muscular dystrophies (DMD) and Becker muscular dystrophies (BMD). Large deletions and duplications are the most frequent causative ...genetic alterations worldwide, but little is known about DMD/BMD genetic profile in Brazil. Hence, we recruited patients with DMD and BMD from 8 neuromuscular reference centers along the country, and performed a comprehensive molecular investigation that included Multiplex Ligation‐dependent Probe Amplification and Next generation sequencing (NGS) analyses. We evaluated 199 patients from 177 unrelated families: 166 with DMD, 32 with BMD and 1 1.5 years old asymptomatic patient with persistent hiperCKemia. Overall, large deletions (58.2%) followed by nonsense mutations (12.4%) and large duplications (11.3%) were the most frequent variants in Brazilian families. Large deletions were less frequent in BMD than in DMD (44.8% vs 60.8%). We identified 19 new
DMD
variants. Nonsense mutations were significantly more frequent in patients from northeastern region than from southern/southeastern regions of Brazil (27.7% vs 8.5%, P < .05). Genetic profile of Brazilian patients with DMD/BMD is similar to previously reported cohorts, but it is not uniform across the country. This information is important to plan rational clinical care for patients in face of the new coming mutation‐specific therapies.
Background/Objectives
The COVID‐19 pandemic prompted a rapid expansion in the use of telemedicine. This study aimed to assess the experiences of hemangioma specialists utilizing telemedicine during ...the COVID‐19 pandemic to evaluate and manage infantile hemangiomas (IH), including perceived effectiveness of different modalities and barriers to care delivery.
Methods
Multicenter cross‐sectional study asking providers to describe their experiences using telemedicine for initial evaluation of IH from March to September 2020.
Results
The study included 281 patients from 15 medical centers internationally. Median time from referral to evaluation was 17 days. Median physician confidence in performing evaluations via telemedicine was 95.0 (IQR 90.0–100.0). Most evaluations were performed via video communication with photographs or audio communication with photographs; when not initially available, photographs were requested in 51.4%. Providers preferred follow‐up modalities that included photographs.
Conclusions
Physicians with extensive expertise in managing IH are confident in their abilities to assess and manage IH via telemedicine including initiating treatment in patients without risk factors for beta‐blocker therapy. There was a preference for hybrid modalities that included photographs. The data suggest that telemedicine can be effective for managing IH and may decrease wait times and improve specialist reach to underserved areas.
Aim: To determine whether lung cancer radiation therapy waiting times in Queensland public hospitals are associated with distance of residence from the nearest treatment facility.
Methods: ...Retrospective analysis of radiation therapy waiting times of 1535 Queensland residents who were diagnosed with lung cancer from 2000 to 2004 and received radiation therapy as initial treatment at a public hospital. The effect of distance of residence from treatment centre on median waiting time was analysed by quantile regression controlling for sex, age, lung cancer histology, stage and therapeutic intent.
Results: The median waiting time from diagnosis to start of radiation therapy was 33 days for all patients. There was no significant difference (P = 0.141) in median waiting times in relation to distance of residence from a treatment centre. However, in most patients, waiting times were significantly longer than recommended by the Royal Australian and New Zealand College of Radiologists. Curative patients waited longer than palliative patients, while patients with earlier stage cancer waited longer than those with more advanced disease.
Conclusion: Waiting times for radiation therapy among lung cancer patients in Queensland was not associated with distance from place of residence to the nearest public treatment facility. However, delays overall are excessive and are likely to worsen unless radiation treatment capabilities are enhanced to keep pace with population growth in Queensland.
MAGIC is a system of two Imaging Atmospheric Cherenkov Telescopes located in the Canary island of La Palma. Since autumn 2009 both telescopes have been working together in stereoscopic mode, ...providing a significant improvement with respect to the previous single-telescope observations. We use observations of the Crab Nebula taken at low zenith angles to assess the performance of the MAGIC stereo system. The trigger threshold of the MAGIC telescopes is 50−60GeV. Advanced stereo analysis techniques allow MAGIC to achieve a sensitivity as good as (0.76±0.03)% of the Crab Nebula flux in 50h of observations above 290GeV. The angular resolution at those energies is better than ∼0.07°. We also perform a detailed study of possible systematic effects which may influence the analysis of the data taken with the MAGIC telescopes.
Very high energy (VHE) Delta *g-ray emission from the flat spectrum radio quasar (FSRQ) PKS 1222+21 (4C 21.35, z = 0.432) was detected with the MAGIC Cherenkov telescopes during a short observation ...(~0.5 hr) performed on 2010 June 17. The MAGIC detection coincides with high-energy MeV/GeV Delta *g-ray activity measured by the Large Area Telescope (LAT) on board the Fermi satellite. The VHE spectrum measured by MAGIC extends from about 70 GeV up to at least 400 GeV and can be well described by a power-law dN/dE E -- Delta *G with a photon index Delta *G = 3.75 ? 0.27stat ? 0.2syst. The averaged integral flux above 100 GeV is (4.6 ? 0.5) X 10--10 cm--2 s--1 (~1 Crab Nebula flux). The VHE flux measured by MAGIC varies significantly within the 30 minute exposure implying a flux doubling time of about 10 minutes. The VHE and MeV/GeV spectra, corrected for the absorption by the extragalactic background light (EBL), can be described by a single power law with photon index 2.72 ? 0.34 between 3 GeV and 400 GeV, and is consistent with emission belonging to a single component in the jet. The absence of a spectral cutoff constrains the Delta *g-ray emission region to lie outside the broad-line region, which would otherwise absorb the VHE Delta *g-rays. Together with the detected fast variability, this challenges present emission models from jets in FSRQs. Moreover, the combined Fermi/LAT and MAGIC spectral data yield constraints on the density of the EBL in the UV-optical to near-infrared range that are compatible with recent models.
We report on the detection with the MAGIC telescopes of very high energy (VHE) γ-rays from IC 310, a head-tail radio galaxy in the Perseus galaxy cluster, observed during the interval 2008 November ...to 2010 February. The Fermi satellite has also detected this galaxy. The source is detected by MAGIC at a high statistical significance of 7.6σ in 20.6 hr of stereo data. The observed spectral energy distribution is flat with a differential spectral index of -2.00 ± 0.14. The mean flux above 300 GeV, between 2009 October and 2010 February, (3.1 ± 0.5) × 10-12 cm-2 s-1, corresponds to (2.5 ± 0.4)% of Crab Nebula units. Only an upper limit, of 1.9% of Crab Nebula units above 300 GeV, was obtained with the 2008 data. This, together with strong hints (>3σ) of flares in the middle of 2009 October and November, implies that the emission is variable. The MAGIC results favor a scenario with the VHE emission originating from the inner jet close to the central engine. More complicated models than a simple one-zone synchrotron self-Compton (SSC) scenario, e.g., multi-zone SSC, external Compton, or hadronic, may be required to explain the very flat spectrum and its extension over more than three orders of magnitude in energy.
We report on the observation of Delta *g-rays above 25 GeV from the Crab pulsar (PSR B0532+21) using the MAGIC I telescope. Two data sets from observations during the winter period 2007/2008 and ...2008/2009 are used. In order to discuss the spectral shape from 100 MeV to 100 GeV, one year of public Fermi Large Area Telescope (Fermi-LAT) data are also analyzed to complement the MAGIC data. The extrapolation of the exponential cutoff spectrum determined with the Fermi-LAT data is inconsistent with MAGIC measurements, which requires a modification of the standard pulsar emission models. In the energy region between 25 and 100 GeV, the emission in the P1 phase (from --0.06 to 0.04, location of the main pulse) and the P2 phase (from 0.32 to 0.43, location of the interpulse) can be described by power laws with spectral indices of --3.1 ? 1.0stat ? 0.3syst and --3.5 ? 0.5stat ? 0.3syst, respectively. Assuming an asymmetric Lorentzian for the pulse shape, the peak positions of the main pulse and the interpulse are estimated to be at phases --0.009 ? 0.007 and 0.393 ? 0.009, while the full widths at half-maximum are 0.025 ? 0.008 and 0.053 ? 0.015, respectively.
MAGIC upper limits on the GRB 090102 afterglow Aleksi, J.; Ansoldi, S.; Antonelli, L. A. ...
Monthly Notices of the Royal Astronomical Society,
02/2014, Letnik:
437, Številka:
4
Journal Article
Recenzirano
Odprti dostop
Indications of a GeV component in the emission from gamma-ray bursts (GRBs) are known since the Energetic Gamma-Ray Experiment Telescope observations during the 1990s and they have been confirmed by ...the data of the Fermi satellite. These results have, however, shown that our understanding of GRB physics is still unsatisfactory. The new generation of Cherenkov observatories and in particular the MAGIC telescope, allow for the first time the possibility to extend the measurement of GRBs from several tens up to hundreds of GeV energy range. Both leptonic and hadronic processes have been suggested to explain the possible GeV/TeV counterpart of GRBs. Observations with ground-based telescopes of very high energy (VHE) photons (E > 30 GeV) from these sources are going to play a key role in discriminating among the different proposed emission mechanisms, which are barely distinguishable at lower energies. MAGIC telescope observations of the GRB 090102 (z = 1.547) field and Fermi Large Area Telescope data in the same time interval are analysed to derive upper limits of the GeV/TeV emission. We compare these results to the expected emissions evaluated for different processes in the framework of a relativistic blastwave model for the afterglow. Simultaneous upper limits with Fermi and a Cherenkov telescope have been derived for this GRB observation. The results we obtained are compatible with the expected emission although the difficulties in predicting the HE and VHE emission for the afterglow of this event makes it difficult to draw firmer conclusions. Nonetheless, MAGIC sensitivity in the energy range of overlap with space-based instruments (above about 40 GeV) is about one order of magnitude better with respect to Fermi. This makes evident the constraining power of ground-based observations and shows that the MAGIC telescope has reached the required performance to make possible GRB multiwavelength studies in the VHE range.
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