| 1. |
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| 2. |
- Aartsen, M. G., et al.
(författare)
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Multiwavelength follow-up of a rare IceCube neutrino multiplet
- 2017
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Ingår i: Astronomy and Astrophysics. - : EDP SCIENCES S A. - 0004-6361 .- 1432-0746. ; 607
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Tidskriftsartikel (refereegranskat)abstract
- On February 17, 2016, the IceCube real-time neutrino search identified, for the first time, three muon neutrino candidates arriving within 100 s of one another, consistent with coming from the same point in the sky. Such a triplet is expected once every 13.7 years as a random coincidence of background events. However, considering the lifetime of the follow-up program the probability of detecting at least one triplet from atmospheric background is 32%. Follow-up observatories were notified in order to search for an electromagnetic counterpart. Observations were obtained by Swift's X-ray telescope, by ASAS-SN, LCO and MASTER at optical wavelengths, and by VERITAS in the very-high-energy gamma-ray regime. Moreover, the Swift BAT serendipitously observed the location 100 s after the first neutrino was detected, and data from the Fermi LAT and HAWC observatory were analyzed. We present details of the neutrino triplet and the follow-up observations. No likely electromagnetic counterpart was detected, and we discuss the implications of these constraints on candidate neutrino sources such as gamma-ray bursts, core-collapse supernovae and active galactic nucleus flares. This study illustrates the potential of and challenges for future follow-up campaigns.
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| 3. |
- Aartsen, M. G., et al.
(författare)
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Very high-energy gamma-ray follow-up program using neutrino triggers from IceCube
- 2016
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Ingår i: Journal of Instrumentation. - 1748-0221. ; 11
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Tidskriftsartikel (refereegranskat)abstract
- We describe and report the status of a neutrino-triggered program in IceCube that generates real-time alerts for gamma-ray follow-up observations by atmospheric-Cherenkov telescopes (MAGIC and VERITAS). While IceCube is capable of monitoring the whole sky continuously, high-energy gamma-ray telescopes have restricted fields of view and in general are unlikely to be observing a potential neutrino-flaring source at the time such neutrinos are recorded. The use of neutrino-triggered alerts thus aims at increasing the availability of simultaneous multi-messenger data during potential neutrino flaring activity, which can increase the discovery potential and constrain the phenomenological interpretation of the high-energy emission of selected source classes (e. g. blazars). The requirements of a fast and stable online analysis of potential neutrino signals and its operation are presented, along with first results of the program operating between 14 March 2012 and 31 December 2015.
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| 4. |
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| 5. |
- Abeysekara, A. U., et al.
(författare)
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VERITAS and Fermi-LAT Observations of TeV Gamma-Ray Sources Discovered by HAWC in the 2HWC Catalog
- 2018
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Ingår i: Astrophysical Journal. - : Institute of Physics Publishing. - 0004-637X .- 1538-4357. ; 866:1
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Tidskriftsartikel (refereegranskat)abstract
- The High Altitude Water Cherenkov (HAWC) collaboration recently published their 2HWC catalog, listing 39 very high energy (VHE; >100 GeV) gamma-ray sources based on 507 days of observation. Among these, 19 sources are not associated with previously known teraelectronvolt (TeV) gamma-ray sources. We have studied 14 of these sources without known counterparts with VERITAS and Fermi-LAT. VERITAS detected weak gamma-ray emission in the 1 TeV-30 TeV band in the region of DA 495, a pulsar wind nebula coinciding with 2HWC J1953+294, confirming the discovery of the source by HAWC. We did not find any counterpart for the selected 14 new HAWC sources from our analysis of Fermi-LAT data for energies higher than 10 GeV. During the search, we detected gigaelectronvolt (GeV) gamma-ray emission coincident with a known TeV pulsar wind nebula, SNR G54.1+0.3 (VER J1930+188), and a 2HWC source, 2HWC J1930+188. The fluxes for isolated, steady sources in the 2HWC catalog are generally in good agreement with those measured by imaging atmospheric Cherenkov telescopes. However, the VERITAS fluxes for SNR G54.1+0.3, DA 495, and TeV J2032+4130 are lower than those measured by HAWC, and several new HAWC sources are not detected by VERITAS. This is likely due to a change in spectral shape, source extension, or the influence of diffuse emission in the source region.
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| 6. |
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| 7. |
- Waszak, S. M., et al.
(författare)
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Spectrum and prevalence of genetic predisposition in medulloblastoma: a retrospective genetic study and prospective validation in a clinical trial cohort
- 2018
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Ingår i: Lancet Oncology. - : Elsevier BV. - 1470-2045. ; 19:6, s. 785-798
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Tidskriftsartikel (refereegranskat)abstract
- Background Medulloblastoma is associated with rare hereditary cancer predisposition syndromes; however, consensus medulloblastoma predisposition genes have not been defined and screening guidelines for genetic counselling and testing for paediatric patients are not available. We aimed to assess and define these genes to provide evidence for future screening guidelines. Methods In this international, multicentre study, we analysed patients with medulloblastoma from retrospective cohorts (International Cancer Genome Consortium [ICGC] PedBrain, Medulloblastoma Advanced Genomics International Consortium [MAGIC], and the CEFALO series) and from prospective cohorts from four clinical studies (SJMB03, SJMB12, SJYC07, and I-HIT-MED). Whole-genome sequences and exome sequences from blood and tumour samples were analysed for rare damaging germline mutations in cancer predisposition genes. DNA methylation profiling was done to determine consensus molecular subgroups: WNT (MBWNT), SHH (MBSHH), group 3 (MBGroup3), and group 4 (MBGroup4). Medulloblastoma predisposition genes were predicted on the basis of rare variant burden tests against controls without a cancer diagnosis from the Exome Aggregation Consortium (ExAC). Previously defined somatic mutational signatures were used to further classify medulloblastoma genomes into two groups, a clock-like group (signatures 1 and 5) and a homologous recombination repair deficiency-like group (signatures 3 and 8), and chromothripsis was investigated using previously established criteria. Progression-free survival and overall survival were modelled for patients with a genetic predisposition to medulloblastoma. Findings We included a total of 1022 patients with medulloblastoma from the retrospective cohorts (n=673) and the four prospective studies (n=349), from whom blood samples (n=1022) and tumour samples (n=800) were analysed for germline mutations in 110 cancer predisposition genes. In our rare variant burden analysis, we compared these against 53 105 sequenced controls from ExAC and identified APC, BRCA2, PALB2, PTCH1, SUFU, and TP53 as consensus medulloblastoma predisposition genes according to our rare variant burden analysis and estimated that germline mutations accounted for 6% of medulloblastoma diagnoses in the retrospective cohort. The prevalence of genetic predispositions differed between molecular subgroups in the retrospective cohort and was highest for patients in the MBSHH subgroup (20% in the retrospective cohort). These estimates were replicated in the prospective clinical cohort (germline mutations accounted for 5% of medulloblastoma diagnoses, with the highest prevalence [14%] in the MBSHH subgroup). Patients with germline APC mutations developed MBWNT and accounted for most (five [71%] of seven) cases of MBWNT that had no somatic CTNNB1 exon 3 mutations. Patients with germline mutations in SUFU and PTCH1 mostly developed infant MBSHH. Germline TP53 mutations presented only in childhood patients in the MBSHH subgroup and explained more than half (eight [57%] of 14) of all chromothripsis events in this subgroup. Germline mutations in PALB2 and BRCA2 were observed across the MBSHH, MBGroup3, and MBGroup4 molecular subgroups and were associated with mutational signatures typical of homologous recombination repair deficiency. In patients with a genetic predisposition to medulloblastoma, 5-year progression-free survival was 52% (95% CI 4069) and 5-year overall survival was 65% (95% CI 5281); these survival estimates differed significantly across patients with germline mutations in different medulloblastoma predisposition genes. Interpretation Genetic counselling and testing should be used as a standard-of-care procedure in patients with MBWNT and MBSHH because these patients have the highest prevalence of damaging germline mutations in known cancer predisposition genes. We propose criteria for routine genetic screening for patients with medulloblastoma based on clinical and molecular tumour characteristics. Copyright (c) 2018 The Author(s). Published by Elsevier Ltd.
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| 8. |
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| 9. |
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| 10. |
- Abeysekara, A. U., et al.
(författare)
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A Luminous and Isolated Gamma-Ray Flare from the Blazar B2 1215+30
- 2017
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Ingår i: Astrophysical Journal. - : Institute of Physics Publishing (IOPP). - 0004-637X .- 1538-4357. ; 836:2
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Tidskriftsartikel (refereegranskat)abstract
- B2 1215+30 is a BL-Lac-type blazar that was first detected at TeV energies by the MAGIC atmospheric Cherenkov telescopes and subsequently confirmed by the Very Energetic Radiation Imaging Telescope Array System (VERITAS) observatory with data collected between 2009 and 2012. In 2014 February 08, VERITAS detected a large-amplitude flare from B2. 1215+30 during routine monitoring observations of the blazar 1ES. 1218+304, located in the same field of view. The TeV flux reached 2.4 times the Crab Nebula flux with a variability timescale of <3.6 hr. Multiwavelength observations with Fermi-LAT, Swift, and the Tuorla Observatory revealed a correlated high GeV flux state and no significant optical counterpart to the flare, with a spectral energy distribution where the gamma-ray luminosity exceeds the synchrotron luminosity. When interpreted in the framework of a onezone leptonic model, the observed emission implies a high degree of beaming, with Doppler factor delta > 10, and an electron population with spectral index p < 2.3.
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| 11. |
- Raghavan, Maanasa, et al.
(författare)
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Genomic evidence for the Pleistocene and recent population history of Native Americans
- 2015
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Ingår i: Science. - : American Association for the Advancement of Science (AAAS). - 0036-8075 .- 1095-9203. ; 349:6250
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Tidskriftsartikel (refereegranskat)abstract
- Howand when the Americas were populated remains contentious. Using ancient and modern genome-wide data, we found that the ancestors of all present-day Native Americans, including Athabascans and Amerindians, entered the Americas as a single migration wave from Siberia no earlier than 23 thousand years ago (ka) and after no more than an 8000-year isolation period in Beringia. After their arrival to the Americas, ancestral Native Americans diversified into two basal genetic branches around 13 ka, one that is now dispersed across North and South America and the other restricted to North America. Subsequent gene flow resulted in some Native Americans sharing ancestry with present-day East Asians (including Siberians) and, more distantly, Australo-Melanesians. Putative "Paleoamerican" relict populations, including the historical Mexican Pericues and South American Fuego-Patagonians, are not directly related to modern Australo-Melanesians as suggested by the Paleoamerican Model.
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| 12. |
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| 13. |
- Freissinet, C., et al.
(författare)
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Organic molecules in the Sheepbed Mudstone, Gale Crater, Mars
- 2015
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Ingår i: Journal of Geophysical Research - Planets. - 2169-9097 .- 2169-9100. ; 120:3, s. 495-514
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Tidskriftsartikel (refereegranskat)abstract
- The Sample Analysis at Mars (SAM) instrument [Mahaffy et al., 2012] onboard the Mars Science Laboratory (MSL) Curiosity rover is designed to conduct inorganic and organic chemical analyses of the atmosphere and the surface regolith and rocks to help evaluate the past and present habitability potential of Mars at Gale Crater [Grotzinger et al., 2012]. Central to this task is the development of an inventory of any organic molecules present to elucidate processes associated with their origin, diagenesis, concentration and long-term preservation. This will guide the future search for biosignatures [Summons et al., 2011]. Here we report the definitive identification of chlorobenzene (150–300 parts per billion by weight (ppbw)) and C2 to C4 dichloroalkanes (up to 70 ppbw) with the SAM gas chromatograph mass spectrometer (GCMS), and detection of chlorobenzene in the direct evolved gas analysis (EGA) mode, in multiple portions of the fines from the Cumberland drill hole in the Sheepbed mudstone at Yellowknife Bay. When combined with GCMS and EGA data from multiple scooped and drilled samples, blank runs and supporting laboratory analog studies, the elevated levels of chlorobenzene and the dichloroalkanes cannot be solely explained by instrument background sources known to be present in SAM. We conclude that these chlorinated hydrocarbons are the reaction products of martian chlorine and organic carbon derived from martian sources (e.g. igneous, hydrothermal, atmospheric, or biological) or exogenous sources such as meteorites, comets or interplanetary dust particles.
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| 14. |
- Smith, Bradley P., et al.
(författare)
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Taxonomic status of the Australian dingo : the case for Canis dingo Meyer, 1793
- 2019
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Ingår i: Zootaxa. - : MAGNOLIA PRESS. - 1175-5326 .- 1175-5334. ; 4564:1, s. 173-197
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Tidskriftsartikel (refereegranskat)abstract
- The taxonomic status and systematic nomenclature of the Australian dingo remain contentious, resulting in decades of inconsistent applications in the scientific literature and in policy. Prompted by a recent publication calling for dingoes to be considered taxonomically as domestic dogs (Jackson et al. 2017, Zootaxa 4317, 201-224), we review the issues of the taxonomy applied to canids, and summarise the main differences between dingoes and other canids. We conclude that (1) the Australian dingo is a geographically isolated (allopatric) species from all other Canis, and is genetically, phenotypically, ecologically, and behaviourally distinct; and (2) the dingo appears largely devoid of many of the signs of domestication, including surviving largely as a wild animal in Australia for millennia. The case of defining dingo taxonomy provides a quintessential example of the disagreements between species concepts (e.g., biological, phylogenetic, ecological, morphological). Applying the biological species concept sensu stricto to the dingo as suggested by Jackson et al. (2017) and consistently across the Canidae would lead to an aggregation of all Canis populations, implying for example that dogs and wolves are the same species. Such an aggregation would have substantial implications for taxonomic clarity, biological research, and wildlife conservation. Any changes to the current nomen of the dingo (currently Canis dingo Meyer, 1793), must therefore offer a strong, evidence-based argument in favour of it being recognised as a subspecies of Canis lupus Linnaeus, 1758, or as Canis familiaris Linnaeus, 1758, and a successful application to the International Commission for Zoological Nomenclature - neither of which can be adequately supported. Although there are many species concepts, the sum of the evidence presented in this paper affirms the classification of the dingo as a distinct taxon, namely Canis dingo.
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| 15. |
- Shipton, Ceri, et al.
(författare)
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78,000-year-old record of Middle and Later stone age innovation in an East African tropical forest
- 2018
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Ingår i: Nature Communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 9:1
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Tidskriftsartikel (refereegranskat)abstract
- The Middle to Later Stone Age transition in Africa has been debated as a significant shift in human technological, cultural, and cognitive evolution. However, the majority of research on this transition is currently focused on southern Africa due to a lack of long-term, stratified sites across much of the African continent. Here, we report a 78,000-year-long archeological record from Panga ya Saidi, a cave in the humid coastal forest of Kenya. Following a shift in toolkits ~67,000 years ago, novel symbolic and technological behaviors assemble in a non-unilinear manner. Against a backdrop of a persistent tropical forest-grassland ecotone, localized innovations better characterize the Late Pleistocene of this part of East Africa than alternative emphases on dramatic revolutions or migrations.
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| 16. |
- Archer, Trevor, 1949, et al.
(författare)
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Cognitive benefits of exercise intervention
- 2016
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Ingår i: Clinica Terapeutica. - 0009-9074 .- 1972-6007. ; 167:6, s. 180-185
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Tidskriftsartikel (refereegranskat)abstract
- © Società Editrice Universo (SEU).Exercise, as a potent epigenetic regulator, implies the potential to counteract pathophysiological processes and alterations in most cardiovascular/respiratory cells and tissues not withstanding a paucity of understanding the underlying molecular mechanisms and doseresponse relationships. In the present account, the assets accruing from physical exercise and its influence upon executive functioning are examined. Under conditions of neuropsychiatric and neurologic ill-health, age-related deterioration of functional and biomarker indicators during healthy and disordered trajectories, neuroimmune and affective unbalance, and epigenetic pressures, exercise offers a large harvest of augmentations in health and well-being. Both animal models and human studies support the premise of manifest gains from regular exercise within several domains, besides cognitive function and mood, notably as the agency of a noninvasive, readily available therapeutic intervention.
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| 17. |
- Blum, K., et al.
(författare)
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Neuroquantum Theories of Psychiatric Genetics: Can Physical Forces Induce Epigenetic Influence on Future Genomes?
- 2015
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Ingår i: Neuroquantology. - 1303-5150. ; 13:1, s. 90-103
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Tidskriftsartikel (refereegranskat)abstract
- This paper serves to encourage quantum physicists to engage in psychiatric based research on the brain and its functions (i.e., consciousness, memory, attention). By using physics theorems such as Einstein's theory of relativity and the string theory, both physicists and geneticists alike may be able to elucidate potential links between components of the universe and their effects on the human brain. We have outlined some interesting posits including the cosmos' role in evolutionary biology, alpha bonding in biological molecules, and environmentally induced epigenetic effects on genetics. We also explore how physical forces can influence human memory, behavioral traits, and rates of addiction. Impulsiveness is used to exemplify how environmental changes can contribute to epigenetics and its hereditary alterations. We propose the idea of the presence of a "mental universe," where brain functionality like consciousness is a continuum of physically altered pathways. The realization that the universe and all of its precepts remains a mystery is reflected in the lack of a standardized "unified" physics theorem and mathematical equation that can explain universal dimensions (physical and mental), and as such, so is the complex nature of the functionality of the human brain. We provide herein a suggestion to remedy possible confusion, whereby we attempt to show the relationship of brain as a complex quantum-like organ and the impact of epigenetics on behavioral expression.
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| 18. |
- Corsi, M., et al.
(författare)
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Cognitive disability in alzheimer's disease and its management
- 2016
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Ingår i: Clinica Terapeutica. - 0009-9074. ; 167:5, s. 123-126
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Tidskriftsartikel (övrigt vetenskapligt/konstnärligt)abstract
- Cognitive disability linked to neurodegenerative diseases and in particular to Alzheimer's disease, remains an increasing cause for concern through a dramatic prevalence increment and associated socioeconomic burdens. Initially Alzheimer's disease develops asymptomatically with primary clinical signs, such as memory impairment, decline of spatial and perceptual abilities, occurring at a later stage. This delay implies the possibility of promoting early interventions during the pre-symptomatic stage of the disease. Different strategies have been applied in order to prevent/delay onset of Alzheimer's disease or at least to improve quality of life and health conditions of Alzheimer's disease patients and their caregivers, especially in the absence of current viable therapies. Multidomain interventions, aimed at affecting several risk factors simultaneously, offer a versatility that may attain improved outcomes in comparison with single-domain prevention trials. These multidomain interventions involve diet, physical exercise, cognitive training and social activities, while music therapy, improving self-consciousness and reducing neurofibrils, may contribute to deceleration/delay onset of Alzheimer's disease progression. Information and Communication Technology (ICT) provides broad applications to improve quality of life and well-being of Alzheimer's disease patients and caregivers, suffering from psychological distress, as well as reducing additional public health costs.
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| 19. |
- Ferrara, R., et al.
(författare)
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Autism Spectrum Disorder and intact executive functioning
- 2016
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Ingår i: Clinica Terapeutica. - 0009-9074. ; 167:5, s. 96-101
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Tidskriftsartikel (övrigt vetenskapligt/konstnärligt)abstract
- Earliest notions concerning autism (Autism Spectrum Disorders, ASD) describe the disturbance in executive functioning. Despite altered definition, executive functioning, expressed as higher cognitive skills required complex behaviors linked to the prefrontal cortex, are defective in autism. Specific difficulties in children presenting autism or verbal disabilities at executive functioning levels have been identified. Nevertheless, the developmental deficit of executive functioning in autism is highly diversified with huge individual variation and may even be absent. The aim of the present study to examine the current standing of intact executive functioning intact in ASD. Results: Analysis of ASD populations, whether high-functioning, Asperger's or autism Broad Phenotype, studied over a range of executive functions including response inhibition, planning, cognitive flexibility, cognitive inhibition, and alerting networks indicates an absence of damage/impairment compared to the typically-developed normal control subjects. Conclusions: These findings of intact executive functioning in ASD subjects provide a strong foundation on which to construct applications for growth environments and the rehabilitation of autistic subjects.
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| 20. |
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| 21. |
- Ippoliti, F., et al.
(författare)
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Work-related Stress, over-nutrition and cognitive disability
- 2017
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Ingår i: Clinica Terapeutica. - 0009-9074. ; 168:1, s. 42-47
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Forskningsöversikt (refereegranskat)abstract
- Work-related stress may exert a negative impact on a variety of physical and psychological attributes relating to the health of employees and work organizations. Several studies conducted in Italy have shown that workers and employees who express less satisfaction show increased symptoms of obesity and cognitive disability. The latest evidence underlines the pathogenic relationship between stress and neurological disease through inflammatory neuro- immune activation. The aim of this review was to describe the relationship between workplace stress and adverse changes in lifestyle that develop into obesity, neuroinflammation and cognitive dysfunction. The molecular mechanisms involved and guidelines for the prevention of these trends are discussed briefly. © Società Editrice Universo (SEU).
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| 22. |
- Massoni, F., et al.
(författare)
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Psychopathology and neoplastic disease: Medico-social and medico-legal considerations
- 2017
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Ingår i: Clinica Terapeutica. - 0009-9074. ; 168:1, s. 48-53
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Forskningsöversikt (refereegranskat)abstract
- The cognitive disability associated with stress in patients presenting cancer disease may exert a significant impact on the psychological health of the individual and even deteriorate the clinical diagnosis. The present study consists of a review of the available literature and an analysis of the association between psychopathologic disease and cancer by selecting useful contributions to the medicosocial discussion of the topic. Interesting considerations have emerged on the epidemiology and pathogenesis of the association between psychopathology and cancer that initiated possibilities towards a greater accuracy in the assessment of the patient that is not only limited to oncologic problems and outcomes. © Società Editrice Universo (SEU).
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| 23. |
- Onofri, E., et al.
(författare)
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Effect of cognitive fluctuation on handwriting in Alzheimer's patient: A case study
- 2015
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Ingår i: Acta Medica Mediterranea. - 0393-6384. ; 31:3, s. 751-755
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Tidskriftsartikel (refereegranskat)abstract
- Introduction: The older population is rapidly growing in the European states and across the globe; and in aging we notice a cognitive declines, a decrease in memory and decision-making abilities. Characteristics of the cognitive fluctuations occur infrequently in the elderly, but they are present in patients with dementia. Fluctuating cognition and abilities have been described as periods of behavioral and thought confusion, inattention, and incoherent speech alternating with episodes of lucidity. It is common in Dementia with Lewy bodies (DLB), however, the role of fluctuations in Alzheimer 's disease (AD) has not been much considered. Case presentation: The present study examines the relationship between cognitive status and handwritten scripts, presented as 'letter-writing' in AD patient, as oscillations of the symptoms phase. Discussion: We present evidence that the deficits of attention and its fluctuations and the cognitive impairment are related with the handwritten expression.
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| 24. |
- Onofri, E., et al.
(författare)
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Legal medical consideration of Alzheimer's disease patients' dysgraphia and cognitive dysfunction: a 6 month follow up
- 2016
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Ingår i: Clinical Interventions in Aging. - : Informa UK Limited. - 1178-1998. ; 11, s. 279-284
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Tidskriftsartikel (refereegranskat)abstract
- Background: The purpose of this study was to investigate the ability of Alzheimer's disease (AD) patients to express intentions and desires, and their decision-making capacity. This study examines the findings from a 6-month follow-up of our previous results in which 30 patients participated. Materials and methods: The patient's cognition was examined by conducting the tests of 14 questions and letter-writing ability over a period of 19 days, and it was repeated after 6 months. The difference between these two cognitive measures (PQ1 before-PQ2 before), tested previously and later the writing test, was designated D Delta before. The test was repeated after 6 months, and PQ1 after-PQ2 after was designated D Delta after. Results: Several markedly strong relationships between dysgraphia and other measures of cognitive performance in AD patients were observed. The most aged patients (over 86 years), despite less frequency, maintain the cognitive capacity manifested in the graphic expressions. A document, written by an AD patient presents an honest expression of the patient's intention if that document is legible, clear, and comprehensive. Conclusion: The identification of impairment/ deficits in writing and cognition during different phases of AD may facilitate the understanding of disease progression and identify the occasions during which the patient may be considered sufficiently lucid to make decisions.
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