682 research outputs found
Recommendations and guidelines in the JIMD: suggested procedures and avoidance of conflicts of interest
A population of luminous accreting black holes with hidden mergers
Major galaxy mergers are thought to play an important part in fuelling the
growth of supermassive black holes. However, observational support for this
hypothesis is mixed, with some studies showing a correlation between merging
galaxies and luminous quasars and others showing no such association. Recent
observations have shown that a black hole is likely to become heavily obscured
behind merger-driven gas and dust, even in the early stages of the merger, when
the galaxies are well separated (5 to 40 kiloparsecs). Merger simulations
further suggest that such obscuration and black-hole accretion peaks in the
final merger stage, when the two galactic nuclei are closely separated (less
than 3 kiloparsecs). Resolving this final stage requires a combination of
high-spatial-resolution infrared imaging and high-sensitivity hard-X-ray
observations to detect highly obscured sources. However, large numbers of
obscured luminous accreting supermassive black holes have been recently
detected nearby (distances below 250 megaparsecs) in X-ray observations. Here
we report high-resolution infrared observations of hard-X-ray-selected black
holes and the discovery of obscured nuclear mergers, the parent populations of
supermassive-black-hole mergers. We find that obscured luminous black holes
(bolometric luminosity higher than 2x10^44 ergs per second) show a significant
(P<0.001) excess of late-stage nuclear mergers (17.6 per cent) compared to a
sample of inactive galaxies with matching stellar masses and star formation
rates (1.1 per cent), in agreement with theoretical predictions. Using
hydrodynamic simulations, we confirm that the excess of nuclear mergers is
indeed strongest for gas-rich major-merger hosts of obscured luminous black
holes in this final stage.Comment: To appear in the 8 November 2018 issue of Nature. This is the
authors' version of the wor
ABJM Baryon Stability and Myers effect
We consider magnetically charged baryon vertex like configurations in AdS^4 X
CP^3 with a reduced number of quarks l. We show that these configurations are
solutions to the classical equations of motion and are stable beyond a critical
value of l. Given that the magnetic flux dissolves D0-brane charge it is
possible to give a microscopical description in terms of D0-branes expanding
into fuzzy CP^n spaces by Myers dielectric effect. Using this description we
are able to explore the region of finite 't Hooft coupling.Comment: 29 pages, Latex; minor changes; version to appear in JHE
Mobile health in adults with congenital heart disease: Current use and future needs
Objective Many adults with congenital heart disease (CHD) are affected lifelong by cardiac events, particularly arrhythmias and heart failure. Despite the care provided, the cardiac event rate remains high. Mobile health (mHealth) brings opportunities to enhance daily monitoring and hence timely response in an attempt to improve outcome. However, it is not known if adults with CHD are currently using mHealth and what type of mHealth they may need in the near future. Methods Consecutive adult patients with CHD who visited the outpatient clinic at the Academic Medical Center in Amsterdam were asked to fill out questionnaires. Exclusion criteria for this study were mental impairment or inability to read and write Dutch. Results All 118 patients participated (median age 40 (range 18–78) years, 40 % male, 49 % symptomatic) and 92 % owned a smartphone. Whereas only a small minority (14 %) of patients used mHealth, the large majority (75 %) were willing to start. Most patients wanted to use mHealth in order to receive more information on physical health, and advice on progression of symptoms or signs of deterioration. Analyses on age, gender and complexity of defect showed significantly less current smartphone usage at older age, but no difference in interest or preferences in type of mHealth application for the near future. Conclusion The relatively young adult CHD population only rarely uses mHealth, but the majority are motivated to start using mHealth. New mHealth initiatives are required in these patients with a chronic condition who need lifelong surveillance in order to reveal if a reduction in morbidity and mortality and improvement in quality of life can be achieved
Consanguinity and rare mutations outside of MCCC genes underlie nonspecific phenotypes of MCCD
Purpose: 3-Methylcrotonyl-CoA carboxylase deficiency (MCCD)
is an autosomal recessive disorder of leucine catabolism that has a
highly variable clinical phenotype, ranging from acute metabolic acidosis to nonspecific symptoms such as developmental delay, failure
to thrive, hemiparesis, muscular hypotonia, and multiple sclerosis.
Implementation of newborn screening for MCCD has resulted in
broadening the range of phenotypic expression to include asymptomatic adults. The purpose of this study was to identify factors
underlying the varying phenotypes of MCCD.
Methods: We performed exome sequencing on DNA from 33 cases
and 108 healthy controls. We examined these data for associations
between either MCC mutational status, genetic ancestry, or consanguinity and the absence or presence/specificity of clinical symptoms
in MCCD cases.
Results: We determined that individuals with nonspecific clinical
phenotypes are highly inbred compared with cases that are asymptomatic and healthy controls. For 5 of these 10 individuals, we discovered a homozygous damaging mutation in a disease gene that is
likely to underlie their nonspecific clinical phenotypes previously
attributed to MCCD.
Conclusion: Our study shows that nonspecific phenotypes attributed to MCCD are associated with consanguinity and are likely not
due to mutations in the MCC enzyme but result from rare homozygous mutations in other disease genes
Long-term passive acoustic recordings track the changing distribution of North Atlantic right whales (Eubalaena glacialis) from 2004 to 2014
© The Author(s), 2017. This article is distributed under the terms of the Creative Commons Attribution License. The definitive version was published in Scientific Reports 7 (2017): 13460, doi:10.1038/s41598-017-13359-3.Given new distribution patterns of the endangered North Atlantic right whale (NARW; Eubalaena glacialis) population in recent years, an improved understanding of spatio-temporal movements are imperative for the conservation of this species. While so far visual data have provided most information on NARW movements, passive acoustic monitoring (PAM) was used in this study in order to better capture year-round NARW presence. This project used PAM data from 2004 to 2014 collected by 19 organizations throughout the western North Atlantic Ocean. Overall, data from 324 recorders (35,600 days) were processed and analyzed using a classification and detection system. Results highlight almost year-round habitat use of the western North Atlantic Ocean, with a decrease in detections in waters off Cape Hatteras, North Carolina in summer and fall. Data collected post 2010 showed an increased NARW presence in the mid-Atlantic region and a simultaneous decrease in the northern Gulf of Maine. In addition, NARWs were widely distributed across most regions throughout winter months. This study demonstrates that a large-scale analysis of PAM data provides significant value to understanding and tracking shifts in large whale movements over long time scales.This research was funded and supported by many organizations, specified by projects as follows: Data recordings from region 1 were provided by K. Stafford and this research effort was funded by the National Science Foundation #NSF-ARC 0532611. Region 2 data were provided by D. K. Mellinger and S. Nieukirk, funded by National Oceanic and Atmospheric Agency (NOAA) and the Office of Naval Research (ONR) #N00014–03–1–0099, NOAA #NA06OAR4600100, US Navy #N00244-08-1-0029, N00244-09-1-0079, and N00244-10-1-0047
Impacts of climate change on plant diseases – opinions and trends
There has been a remarkable scientific output on the topic of how climate change is likely to affect plant diseases in the coming decades. This review addresses the need for review of this burgeoning literature by summarizing opinions of previous reviews and trends in recent studies on the impacts of climate change on plant health. Sudden Oak Death is used as an introductory case study: Californian forests could become even more susceptible to this emerging plant disease, if spring precipitations will be accompanied by warmer temperatures, although climate shifts may also affect the current synchronicity between host cambium activity and pathogen colonization rate. A summary of observed and predicted climate changes, as well as of direct effects of climate change on pathosystems, is provided. Prediction and management of climate change effects on plant health are complicated by indirect effects and the interactions with global change drivers. Uncertainty in models of plant disease development under climate change calls for a diversity of management strategies, from more participatory approaches to interdisciplinary science. Involvement of stakeholders and scientists from outside plant pathology shows the importance of trade-offs, for example in the land-sharing vs. sparing debate. Further research is needed on climate change and plant health in mountain, boreal, Mediterranean and tropical regions, with multiple climate change factors and scenarios (including our responses to it, e.g. the assisted migration of plants), in relation to endophytes, viruses and mycorrhiza, using long-term and large-scale datasets and considering various plant disease control methods
Oxytocin receptor gene polymorphisms are associated with human directed social behavior in dogs (Canis familiaris)
The oxytocin system has a crucial role in human sociality;
several results prove that polymorphisms of the oxytocin
receptor gene are related to complex social behaviors in humans.
Dogs' parallel evolution with humans and their adaptation to the
human environment has made them a useful species to model human
social interactions. Previous research indicates that dogs are
eligible models for behavioral genetic research, as well. Based
on these previous findings, our research investigated
associations between human directed social behaviors and two
newly described (−212AG, 19131AG) and one known (rs8679684)
single nucleotide polymorphisms (SNPs) in the regulatory regions
(5′ and 3′ UTR) of the oxytocin receptor gene in German Shepherd
(N = 104) and Border Collie (N = 103) dogs. Dogs' behavior
traits have been estimated in a newly developed test series
consisting of five episodes: Greeting by a stranger, Separation
from the owner, Problem solving, Threatening approach, Hiding of
the owner. Buccal samples were collected and DNA was isolated
using standard protocols. SNPs in the 3′ and 5′ UTR regions were
analyzed by polymerase chain reaction based techniques followed
by subsequent electrophoresis analysis. The gene–behavior
association analysis suggests that oxytocin receptor gene
polymorphisms have an impact in both breeds on (i) proximity
seeking towards an unfamiliar person, as well as their owner,
and on (ii) how friendly dogs behave towards strangers, although
the mediating molecular regulatory mechanisms are yet unknown.
Based on these results, we conclude that similarly to humans,
the social behavior of dogs towards humans is influenced by the
oxytocin system
Cardiopulmonary assessment of patients with systemic sclerosis for hematopoietic stem cell transplantation: recommendations from the European Society for Blood and Marrow Transplantation Autoimmune Diseases Working Party and collaborating partners.
Systemic sclerosis (SSc) is a rare disabling autoimmune disease with a similar mortality to many cancers. Two randomized controlled trials of autologous hematopoietic stem cell transplantation (AHSCT) for SSc have shown significant improvement in organ function, quality of life and long-term survival compared to standard therapy. However, transplant-related mortality (TRM) ranged from 3-10% in patients undergoing HSCT. In SSc, the main cause of non-transplant and TRM is cardiac related. We therefore updated the previously published guidelines for cardiac evaluation, which should be performed in dedicated centers with expertize in HSCT for SSc. The current recommendations are based on pre-transplant cardiopulmonary evaluations combining pulmonary function tests, echocardiography, cardiac magnetic resonance imaging and invasive hemodynamic testing, initiated at Northwestern University (Chicago) and subsequently discussed and endorsed within the EBMT ADWP in 2016
P5CS expression study in a new family with ALDH18A1-associated hereditary spastic paraplegia SPG9
In 2015\u20132016, we and others reported ALDH18A1 mutations causing dominant (SPG9A) or recessive (SPG9B) spastic paraplegia. In vitro production of the ALDH18A1 product, \u3941-pyrroline-5-carboxylate synthetase (P5CS), appeared necessary for cracking SPG9 disease-causing mechanisms. We now describe a baculovirus\u2013insect cell system that yields mgs of pure human P5CS and that has proven highly valuable with two novel P5CS mutations reported here in new SPG9B patients. We conclude that both mutations are disease-causing, that SPG9B associates with partial P5CS deficiency and that it is clinically more severe than SPG9A, as reflected in onset age, disability, cognitive status, growth, and dysmorphic traits
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