2,068 research outputs found
TeV gamma-rays from photo-disintegration/de-excitation of cosmic-ray nuclei
It is commonly assumed that high-energy gamma-rays are made via either purely
electromagnetic processes or the hadronic process of pion production, followed
by decay. We investigate astrophysical contexts where a third process (A*) may
dominate, namely the photo-disintegration of highly boosted nuclei followed by
daughter de-excitation. Starbust regions such as Cygnus OB2 appear to be
promising sites for TeV gamma-ray emission via this mechanism. A unique feature
of the A* process is a sharp energy minimum ~ 10 TeV/(T/eV) for gamma-ray
emission from a thermal region of temperature T. We also check that a diffuse
gamma-ray component resulting from the interaction of a possible extreme-energy
cosmic-ray nuclei with background radiation is well below the observed EGRET
data. The A* mechanism described herein offers an important contribution to
gamma-ray astronomy in the era of intense observational activity.Comment: To be published in Phys. Rev. Let
Mn valence instability in La2/3Ca1/3MnO3 thin films
A Mn valence instability on La2/3Ca1/3MnO3 thin films, grown on LaAlO3
(001)substrates is observed by x-ray absorption spectroscopy at the Mn L-edge
and O K-edge. As-grown samples, in situ annealed at 800 C in oxygen, exhibit a
Curie temperature well below that of the bulk material. Upon air exposure a
reduction of the saturation magnetization, MS, of the films is detected.
Simultaneously a Mn2+ spectral signature develops, in addition to the expected
Mn3+ and Mn4+ contributions, which increases with time. The similarity of the
spectral results obtained by total electron yield and fluorescence yield
spectroscopy indicates that the location of the Mn valence anomalies is not
confined to a narrow surface region of the film, but can extend throughout the
whole thickness of the sample. High temperature annealing at 1000 C in air,
immediately after growth, improves the magnetic and transport properties of
such films towards the bulk values and the Mn2+ signature in the spectra does
not appear. The Mn valence is then stable even to prolonged air exposure. We
propose a mechanism for the Mn2+ ions formation and discuss the importance of
these observations with respect to previous findings and production of thin
films devices.Comment: Double space, 21 pages, 6 figure
Systematic identification of phenotypically enriched loci using a patient network of genomic disorders
Background
Network medicine is a promising new discipline that combines systems biology approaches and network science to understand the complexity of pathological phenotypes. Given the growing availability of personalized genomic and phenotypic profiles, network models offer a robust integrative framework for the analysis of "omics" data, allowing the characterization of the molecular aetiology of pathological processes underpinning genetic diseases.
Methods
Here we make use of patient genomic data to exploit different network-based analyses to study genetic and phenotypic relationships between individuals. For this method, we analyzed a dataset of structural variants and phenotypes for 6,564 patients from the DECIPHER database, which encompasses one of the most comprehensive collections of pathogenic Copy Number Variations (CNVs) and their associated ontology-controlled phenotypes. We developed a computational strategy that identifies clusters of patients in a synthetic patient network according to their genetic overlap and phenotype enrichments.
Results
Many of these clusters of patients represent new genotype-phenotype associations, suggesting the identification of newly discovered phenotypically enriched loci (indicative of potential novel syndromes) that are currently absent from reference genomic disorder databases such as ClinVar, OMIM or DECIPHER itself.
Conclusions
We provide a high-resolution map of pathogenic phenotypes associated with their respective significant genomic regions and a new powerful tool for diagnosis of currently uncharacterized mutations leading to deleterious phenotypes and syndromes
Distinct regulation of tonsillar immune response in virus infection
Cataloged from PDF version of article.Background: The relationships between tonsillar immune responses, and viral infection and allergy are incompletely known. Objective To study intratonsillar/nasopharyngeal virus detections and in vivo expressions of T-cell- and innate immune response-specific cytokines, transcription factors, and type I/II/III interferons in human tonsils. Methods: Palatine tonsil samples were obtained from 143 elective tonsillectomy patients. Adenovirus, bocavirus-1, coronavirus, enteroviruses, influenza virus, metapneumovirus, parainfluenza virus, rhinovirus, and respiratory syncytial virus were detected using PCR. The mRNA expression levels of IFN-α, IFN-β, IFN-γ, IL-10, IL-13, IL-17, IL-28, IL-29, IL-37, TGF-β, FOXP3, GATA3, RORC2, and Tbet were directly analyzed by quantitative RT-PCR. Results Fifty percentage of subjects reported allergy, 59% had ≥1 nasopharyngeal viruses, and 24% had ≥1 intratonsillar viruses. Tonsillar virus detection showed a strong negative association with age; especially rhinovirus or parainfluenza virus detection showed positive association with IFN-γ and Tbet expressions. IL-37 expression was positively associated with atopic dermatitis, whereas IFN-α, IL-13, IL-28, and Tbet expressions were negatively associated with allergic diseases. Network analyses demonstrated strongly polarized clusters of immune regulatory (IL-10, IL-17, TGF-β, FOXP3, GATA3, RORC2, Tbet) and antiviral (IFN-α, IFN-β, IL-28, IL-29) genes. These two clusters became more distinctive in the presence of viral infection or allergy. A negative correlation between antiviral cytokines and IL-10, IL-17, IL-37, FOXP3, and RORC2 was observed only in the presence of viruses, and interestingly, IL-13 strongly correlated with antiviral cytokines. Conclusions: Tonsillar cytokine expression is closely related to existing viral infections, age, and allergic illnesses and shows distinct clusters between antiviral and immune regulatory genes. © 2014 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd
Unshifting the baseline: a framework for documenting historical population changes and assessing long-term anthropogenic impacts
Ecological baselines—reference states of species' distributions and abundances—are key to the scientific arguments underpinning many conservation and management interventions, as well as to the public support to such interventions. Yet societal as well as scientific perceptions of these baselines are often based on ecosystems that have been deeply transformed by human actions. Despite increased awareness about the pervasiveness and implications of this shifting baseline syndrome, ongoing global assessments of the state of biodiversity do not take into account the long-term, cumulative, anthropogenic impacts on biodiversity. Here, we propose a new framework for documenting such impacts, by classifying populations according to the extent to which they deviate from a baseline in the absence of human actions. We apply this framework to the bowhead whale (Balaena mysticetus) to illustrate how it can be used to assess populations with different geographies and timelines of known or suspected impacts. Through other examples, we discuss how the framework can be applied to populations for which there is a wide diversity of existing knowledge, by making the best use of the available ecological, historical and archaeological data. Combined across multiple populations, this framework provides a standard for assessing cumulative anthropogenic impacts on biodiversity
Phenotype-loci associations in networks of patients with rare disorders: application to assist in the diagnosis of novel clinical cases
Copy number variations (CNVs) are genomic structural variations (deletions, duplications, or translocations) that represent the 4.8–9.5% of human genome variation in healthy individuals. In some cases, CNVs can also lead to disease, being the etiology of many known rare genetic/genomic disorders. Despite the last advances in genomic sequencing and diagnosis, the pathological effects of many rare genetic variations remain unresolved, largely due to the low number of patients available for these cases, making it difficult to identify consistent patterns of genotype–phenotype relationships. We aimed to improve the identification of statistically consistent genotype–phenotype relationships by integrating all the genetic and clinical data of thousands of patients with rare genomic disorders (obtained from the DECIPHER database) into a phenotype–patient–genotype tripartite network. Then we assessed how our network approach could help in the characterization and diagnosis of novel cases in clinical genetics. The systematic approach implemented in this work is able to better define the relationships between phenotypes and specific loci, by exploiting large-scale association networks of phenotypes and genotypes in thousands of rare disease patients. The application of the described methodology facilitated the diagnosis of novel clinical cases, ranking phenotypes by locus specificity and reporting putative new clinical features that may suggest additional clinical follow-ups. In this work, the proof of concept developed over a set of novel clinical cases demonstrates that this network-based methodology might help improve the precision of patient clinical records and the characterization of rare syndromes
Two-dimensional tunneling in a SQUID
Traditionally quantum tunneling in a static SQUID is studied on the basis of
a classical trajectory in imaginary time under a two-dimensional potential
barrier. The trajectory connects a potential well and an outer region crossing
their borders in perpendicular directions. In contrast to that main-path
mechanism, a wide set of trajectories with components tangent to the border of
the well can constitute an alternative mechanism of multi-path tunneling. The
phenomenon is essentially non-one-dimensional. Continuously distributed paths
under the barrier result in enhancement of tunneling probability. A type of
tunneling mechanism (main-path or multi-path) depends on character of a state
in the potential well prior to tunneling.Comment: 9 pages, 8 figure
Fracturas de húmero complicadas con lesión arterial
Presentamos una serie de 10 pacientes afectos de una fractura de húmero asociada
a una lesión arterial, tratados entre Enero de 1990 y Octubre de 1993. Dentro de la serie
distinguimos tres grupos, de acuerdo con la localización de la fractura (tercio proximal,
diáfisis, región supracondílea). El análisis de los resultados sugiere que el peor pronóstico corresponde
a las lesiones proximales y diafisarias por su etiología, daños asociados y menor posibilidad
de circulación colateral de suplencia. El manejo de estas lesiones complejas exige un
tratamiento quirúrgico interdisciplinario. Señalamos la utilidad de la fijación externa como método
de osteosíntesis y el uso de un «shunt» provisional para perfundir el miembro durante la
cirugía ósea. Se discute la indicación de arteriografía en los traumatismos agudos del miembro
superior.A serie of 10 patients with a fracture of the humerus and associated arterial injury
treated from January 1990 to October 1993 is reported. The serie was divided in 3
groups acording the proximal, mid shaft or supracondylar location of the fracture. Clinical results
indicate a poor prognosis of proximal and mid shaft fractures related to their etiology, associated
injuries and damage of the colateral vessels. The management of these complex
injuries require an interdisciplinar approach. External fixation is an usefull stabilitation method
for fractures associated with vascular damage. The utility of a temporary intraluminar vascular
shunt to perfuse the limb at the bone surgery and preoperative arteriography are discussed
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