1,157 research outputs found

    Mutations of the ret protooncogene in German multiple endocrine neoplasia families: Relation between genotype and phenotype.

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    It has been suggested that not only the position but also the nature of the mutations of the ret protooncogene strongly correlate with the clinical manifestation of the multiple endocrine neoplasm type 2 (MEN 2) syndrome. In particular, individuals with a Cys634-Arg substitution should have a greater risk of developing parathyroid disease. We, therefore, analyzed 94 unrelated families from Germany with inherited medullary thyroid carcinoma (MTC) for mutation of the ret protooncogene. In all but 1 of 59 families with MEN 2A, germline mutations in the extracellular domain of the ret protein were found. Some 81% of the MEN 2A mutations affected codon 634. Phenotype-genotype correlations suggested that the prevalence of pheochromocytoma and hyperparathyroidism is significantly higher in families with codon 634 mutations, but there was no correlation with the nature of the mutation. In all but 1 of 27 familial MTC (FMTC) families, mutations were detected in 1 of 4 cysteines in the extracellular domain of the ret protooncogene. Half of the FMTC mutations affected codon 634. Mutations outside of codon 634 occurred more often in FMTC families than in MEN 2A families. In all but 1 of 8 MEN 2B patients, de novo mutations in codon 918 were found. These data confirm the preferential localization of MEN 2-associated mutations and the correlation between disease phenotype and the position of the ret mutation, but there was no correlation between the occurrence of hyperparathyroidism or pheochromocytoma and the nature of the mutation

    The H.E.S.S. extragalactic sky

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    The H.E.S.S. Cherenkov telescope array, located on the southern hemisphere in Namibia, studies very high energy (VHE; E>100 GeV) gamma-ray emission from astrophysical objects. During its successful operations since 2002 more than 80 galactic and extra-galactic gamma-ray sources have been discovered. H.E.S.S. devotes over 400 hours of observation time per year to the observation of extra-galactic sources resulting in the discovery of several new sources, mostly AGNs, and in exciting physics results e.g. the discovery of very rapid variability during extreme flux outbursts of PKS 2155-304, stringent limits on the density of the extragalactic background light (EBL) in the near-infrared derived from the energy spectra of distant sources, or the discovery of short-term variability in the VHE emission from the radio galaxy M 87. With the recent launch of the Fermi satellite in 2008 new insights into the physics of AGNs at GeV energies emerged, leading to the discovery of several new extragalactic VHE sources. Multi-wavelength observations prove to be a powerful tool to investigate the production mechanism for VHE emission in AGNs. Here, new results from H.E.S.S. observations of extragalactic sources will be presented and their implications for the physics of these sources will be discussed.Comment: 8 pages, 6 figures, invited review talk, in the proceedings of the "International Workshop on Beamed and Unbeamed Gamma-Rays from Galaxies" 11-15 April 2011, Lapland Hotel Olos, Muonio, Finland, Journal of Physics: Conference Series Volume 355, 201

    Do all roads lead to rome? The potential of different approaches to diagnose Aelurostrongylus abstrusus infection in cats

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    An infection with the cat lungworm, Aelurostrongylus abstrusus, can be subclinical, but it can also cause severe respiratory clinical signs. Larvae excretion, antibody levels, clinical assessment findings of the respiratory system and diagnostic imaging findings were recorded and compared for six cats with experimental aelurostrongylosis. In five cats, patency started 33–47 days post infection (pi), but two cats excreted larvae only in long intervals and low numbers. Positive ELISA results were observed in four cats with patent aelurostrongylosis, starting between five days before and 85 days after onset of patency. One seropositive cat remained copromicroscopically negative. Mild respiratory signs were observed in all cats examined. A computed tomographic (CT) examination of the lungs displayed distinct alterations, even in absence of evident clinical signs or when larvae excretion was low or negative. The thoracic radiograph evaluation correlated with the CT results, but CT was more distinctive. After anthelmintic treatment in the 25th week post infection, pulmonary imaging findings improved back to normal within 6–24 weeks. This study shows that a multifaceted approach, including diagnostic imaging, can provide a clearer diagnosis and monitoring of disease progression. Furthermore, a CT examination provides an alternative to post mortem examination and worm counts in anthelmintic efficacy studies

    Broadband multi-wavelength campaign on PKS 2005-489

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    The spectral energy distribution (SED) of high-frequency peaked BL Lac objects (HBL) is characterized by two peaks: one in the UV-X-ray and one in the GeV-TeV regime. An interesting object for analyzing these broadband characteristics is PKS 2005-489, which in 2004 showed the softest TeV spectrum ever measured. In 2009, a multi-wavelength campaign has been conducted with, for the first time, simultaneous observations by H.E.S.S. (TeV), Fermi/LAT (GeV), RXTE (keV), Swift (keV, UV, optical) and ATOM (optical) to cover the two peaks of the SED. During this campaign PKS 2005-489 underwent a high state in all wavebands which gives the opportunity to study in detail the emission processes of a high state of this interesting HBL.Comment: 2009 Fermi Symposium; eConf Proceedings C09112

    Identification of occult metastases of medullary thyroid carcinoma by pentagastrin-stimulated intravenous calcitonin sampling followed by targeted surgery

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    BACKGROUND: High calcitonin (CT) serum levels suggest metastatic spread in medullary thyroid carcinoma (MTC) after thyroidectomy. In limited disease stages, however, morphological investigations including ultrasound, magnetic resonance imaging (MRI) and 18F-FDG positron emission tomography ([18F]FDG-PET) may often fail to identify exact tumour sites. OBJECTIVE: The aim of the present study was to establish an improved strategy to identify small cervical tumours by combining pentagastrin stimulation with bilateral cervical intravenous CT sampling followed by high-resolution ultrasound. DESIGN AND PATIENTS: Six MTC patients were examined, of whom five patients already had bilateral neck dissection. Five patients had sporadic MTC, and one patient suffered from MEN2a. RESULTS: Retrospective analysis of all patients revealed a highly sensitive positive correlation between an early calcitonin peak (20–40 s after pentagastrin injection) and site of cervical tumour affection. Postinterventional ultrasound examination of the affected regions of the neck revealed suspicious presence; in some cases small lymph nodes of less than 1 cm in size were then surgically excised. On histology, small tumours could be identified in four patients. Postsurgical examination revealed a clear decline of basal serum calcitonin levels in four patients (between −41% and −100%). In two patients CT normalized to baseline levels (< 10 pg/ml) and in another two patients CT rendered to near normal (14 and 17 pg/ml). CONCLUSION: Pentagastrin stimulation-based intravenous catheter sampling may be beneficial in the diagnostic work-up of MTC after thyroidectomy. Our data show that an early calcitonin peak (20–40 s after administration of pentagastrin) helps to identify tumour-affected regions

    New AGNs discovered by H.E.S.S

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    During the last year, six new Active Galactic Nuclei (AGN) have been discovered and studied by H.E.S.S. at Very High Energies (VHE). Some of these recent discoveries have been made thanks to new enhanced analysis methods and are presented at this conference for the first time. The three blazars 1ES 0414+009, SHBL J001355.9-185406 and 1RXS J101015.9-311909 have been targeted for observation due to their high levels of radio and X-ray fluxes, while the Fermi/LAT catalogue of bright sources triggered the observation of PKS 0447-439 and AP Librae. Additionally, the BL Lac 1ES 1312-423 was discovered in the field-of-view (FoV) of Centaurus A thanks to the large exposure dedicated by H.E.S.S. to this particularly interesting source. The newly-discovered sources are presented here and in three companion presentations at this conference.Comment: 8 pages, 3 figures, proceeding from the 25th Texas Symposium on Relativistic Astrophysics (Heidelberg, Germany, 2010

    Early and Later Perceptions and Reactions to the COVID-19 Pandemic in Germany: On Predictors of Behavioral Responses and Guideline Adherence During the Restrictions

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    In March 2020, the German government enacted measures on movement restrictions and social distancing due to the COVID-19 pandemic. As this situation was previously unknown, it raised numerous questions about people’s perceptions of and behavioral responses to these new policies. In this context, we were specifically interested in people’s trust in official information, predictors for self-prepping behavior and health behavior to protect oneself and others, and determinants for adherence to social distancing guidelines. To explore these questions, we conducted three studies in which a total of 1,368 participants were surveyed (Study 1 N=377, March 2020; Study 2 N=461, April 2020; Study 3 N=530, April 2021) across Germany between March 2020 and April 2021. Results showed striking differences in the level of trust in official statistics (depending on the source). Furthermore, all three studies showed congruent findings regarding the influence of different factors on the respective behavioral responses. Trust in official statistics predicted behavioral responses in all three studies. However, it did not influence adherence to social distancing guidelines in 2020, but in 2021. Furthermore, adherence to social distancing guidelines was associated with higher acceptance rates of the measures and being older. Being female and less right-wing orientated were positively associated with guidelines adherence only in the studies from 2020. This year, political orientation moderated the association between acceptance of the measures and guideline adherence. This investigation is one of the first to examine perceptions and reactions during the COVID-19 pandemic in Germany across 1year and provides insights into important dimensions that need to be considered when communicating with the public
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