2,470 research outputs found
Discovery of mating in the major African livestock pathogen Trypanosoma congolense
The protozoan parasite, Trypanosoma congolense, is one of the most economically important pathogens of livestock in Africa and, through its impact on cattle health and productivity, has a significant effect on human health and well being. Despite the importance of this parasite our knowledge of some of the fundamental biological processes is limited. For example, it is unknown whether mating takes place. In this paper we have taken a population genetics based approach to address this question. The availability of genome sequence of the parasite allowed us to identify polymorphic microsatellite markers, which were used to genotype T. congolense isolates from livestock in a discrete geographical area of The Gambia. The data showed a high level of diversity with a large number of distinct genotypes, but a deficit in heterozygotes. Further analysis identified cryptic genetic subdivision into four sub-populations. In one of these, parasite genotypic diversity could only be explained by the occurrence of frequent mating in T. congolense. These data are completely inconsistent with previous suggestions that the parasite expands asexually in the absence of mating. The discovery of mating in this species of trypanosome has significant consequences for the spread of critical traits, such as drug resistance, as well as for fundamental aspects of the biology and epidemiology of this neglected but economically important pathogen
Body odor quality predicts behavioral attractiveness in humans
Growing effort is being made to understand how different attractive physical traits co-vary within individuals, partly because this might indicate an underlying index of genetic quality. In humans, attention has focused on potential markers of quality such as facial attractiveness, axillary odor quality, the second-to-fourth digit (2D:4D) ratio and body mass index (BMI). Here we extend this approach to include visually-assessed kinesic cues (nonverbal behavior linked to movement) which are statistically independent of structural physical traits. The utility of such kinesic cues in mate assessment is controversial, particularly during everyday conversational contexts, as they could be unreliable and susceptible to deception. However, we show here that the attractiveness of nonverbal behavior, in 20 male participants, is predicted by perceived quality of their axillary body odor. This finding indicates covariation between two desirable traits in different sensory modalities. Depending on two different rating contexts (either a simple attractiveness rating or a rating for long-term partners by 10 female raters not using hormonal contraception), we also found significant relationships between perceived attractiveness of nonverbal behavior and BMI, and between axillary odor ratings and 2D:4D ratio. Axillary odor pleasantness was the single attribute that consistently predicted attractiveness of nonverbal behavior. Our results demonstrate that nonverbal kinesic cues could reliably reveal mate quality, at least in males, and could corroborate and contribute to mate assessment based on other physical traits
Presymptomatic risk assessment for chronic non-communicable diseases
The prevalence of common chronic non-communicable diseases (CNCDs) far
overshadows the prevalence of both monogenic and infectious diseases combined.
All CNCDs, also called complex genetic diseases, have a heritable genetic
component that can be used for pre-symptomatic risk assessment. Common single
nucleotide polymorphisms (SNPs) that tag risk haplotypes across the genome
currently account for a non-trivial portion of the germ-line genetic risk and
we will likely continue to identify the remaining missing heritability in the
form of rare variants, copy number variants and epigenetic modifications. Here,
we describe a novel measure for calculating the lifetime risk of a disease,
called the genetic composite index (GCI), and demonstrate its predictive value
as a clinical classifier. The GCI only considers summary statistics of the
effects of genetic variation and hence does not require the results of
large-scale studies simultaneously assessing multiple risk factors. Combining
GCI scores with environmental risk information provides an additional tool for
clinical decision-making. The GCI can be populated with heritable risk
information of any type, and thus represents a framework for CNCD
pre-symptomatic risk assessment that can be populated as additional risk
information is identified through next-generation technologies.Comment: Plos ONE paper. Previous version was withdrawn to be updated by the
journal's pdf versio
The future of pharmacogenetics in the treatment of heart failure
Heart failure is a common disease with high levels of morbidity and mortality. Current treatment comprises β-blockers, ACE inhibitors, aldosterone antagonists and diuretics. Variation in clinical response seen in patients begs the question of whether there is a pharmacogenetic component yet to be identified. To date, the genes most studied involve the β-1, β-2, α-2 adrenergic receptors and the renin-angiotensin-aldosterone pathway, mainly focusing on SNPs. However results have been inconsistent. Genome-wide association studies and next-generation sequencing are seen as alternative approaches to discovering genetic variations influencing drug response. Hopefully future research will lay the foundations for genotype-led drug management in these patients with the ultimate aim of improving their clinical outcome.</p
The merger that led to the formation of the Milky Way's inner stellar halo and thick disk
The assembly process of our Galaxy can be retrieved using the motions and
chemistry of individual stars. Chemo-dynamical studies of the nearby halo have
long hinted at the presence of multiple components such as streams, clumps,
duality and correlations between the stars' chemical abundances and orbital
parameters. More recently, the analysis of two large stellar surveys have
revealed the presence of a well-populated chemical elemental abundance
sequence, of two distinct sequences in the colour-magnitude diagram, and of a
prominent slightly retrograde kinematic structure all in the nearby halo, which
may trace an important accretion event experienced by the Galaxy. Here report
an analysis of the kinematics, chemistry, age and spatial distribution of stars
in a relatively large volume around the Sun that are mainly linked to two major
Galactic components, the thick disk and the stellar halo. We demonstrate that
the inner halo is dominated by debris from an object which at infall was
slightly more massive than the Small Magellanic Cloud, and which we refer to as
Gaia-Enceladus. The stars originating in Gaia-Enceladus cover nearly the full
sky, their motions reveal the presence of streams and slightly retrograde and
elongated trajectories. Hundreds of RR Lyrae stars and thirteen globular
clusters following a consistent age-metallicity relation can be associated to
Gaia-Enceladus on the basis of their orbits. With an estimated 4:1 mass-ratio,
the merger with Gaia-Enceladus must have led to the dynamical heating of the
precursor of the Galactic thick disk and therefore contributed to the formation
of this component approximately 10 Gyr ago. These findings are in line with
simulations of galaxy formation, which predict that the inner stellar halo
should be dominated by debris from just a few massive progenitors.Comment: 19 pages, 8 figures. Published in Nature in the issue of Nov. 1st,
2018. This is the authors' version before final edit
Six-dimensional (1,0) effective action of F-theory via M-theory on Calabi-Yau threefolds
The six-dimensional effective action of F-theory compactified on a singular
elliptically fibred Calabi-Yau threefold is determined by using an M-theory
lift. The low-energy data are derived by comparing a circle reduction of a
general six-dimensional (1,0) gauged supergravity theory with the effective
action of M-theory on the resolved Calabi-Yau threefold. The derivation
includes six-dimensional tensor multiplets for which the (anti-) self-duality
constraints are imposed on the level of the five-dimensional action. The vector
sector of the reduced theory is encoded by a non-standard potential due to the
Green-Schwarz term in six dimensions. This Green-Schwarz term also contains
higher curvature couplings which are considered to establish the full map
between anomaly coefficients and geometry. F-/M-theory duality is exploited by
moving to the five-dimensional Coulomb branch after circle reduction and
integrating out massive vector multiplets and matter hypermultiplets. The
associated fermions then generate additional Chern-Simons couplings at
one-loop. Further couplings involving the graviphoton are induced by quantum
corrections due to excited Kaluza-Klein modes. On the M-theory side integrating
out massive fields corresponds to resolving the singularities of the Calabi-Yau
threefold, and yields intriguing relations between six-dimensional anomalies
and classical topology.Comment: 55 pages, v2: typos corrected, discussion of loop corrections
improve
Accuracy of magnetic resonance studies in the detection of chondral and labral lesions in femoroacetabular impingement : systematic review and meta-analysis
Background: Several types of Magnetic resonance imaging (MRI) are commonly used in imaging of femoroacetabular impingement (FAI), however till now there are no clear protocols and recommendations for each type. The aim of this meta-analysis is to detect the accuracy of conventional magnetic resonance imaging (cMRI), direct magnetic resonance arthrography (dMRA) and indirect magnetic resonance arthrography (iMRA) in the diagnosis of chondral and labral lesions in femoroacetabular impingement (FAI).
Methods: A literature search was finalized on the 17th of May 2016 to collect all studies identifying the accuracy of cMRI, dMRA and iMRA in diagnosing chondral and labral lesions associated with FAI using surgical results (arthroscopic or open) as a reference test. Pooled sensitivity and specificity with 95% confidence intervals using a random-effects meta-analysis for MRI, dMRA and iMRA were calculated also area under receiver operating characteristic (ROC) curve (AUC) was retrieved whenever possible where AUC is equivocal to diagnostic accuracy.
Results: The search yielded 192 publications which were reviewed according inclusion and exclusion criteria then 21 studies fulfilled the eligibility criteria for the qualitative analysis with a total number of 828 cases, lastly 12 studies were included in the quantitative meta-analysis. Meta-analysis showed that as regard labral lesions the pooled sensitivity, specificity and AUC for cMRI were 0.864, 0.833 and 0.88 and for dMRA were 0.91, 0.58 and 0.92. While in chondral lesions the pooled sensitivity, specificity and AUC for cMRI were 0.76, 0.72 and 0.75 and for dMRA were 0.75, 0.79 and 0.83, while for iMRA were sensitivity of 0.722 and specificity of 0.917.
Conclusions: The present meta-analysis showed that the diagnostic test accuracy was superior for dMRA when compared with cMRI for detection of labral and chondral lesions. The diagnostic test accuracy was superior for labral lesions when compared with chondral lesions in both cMRI and dMRA. Promising results are obtained concerning iMRA but further studies still needed to fully assess its diagnostic accuracy
The stellar halo of the Galaxy
Stellar halos may hold some of the best preserved fossils of the formation
history of galaxies. They are a natural product of the merging processes that
probably take place during the assembly of a galaxy, and hence may well be the
most ubiquitous component of galaxies, independently of their Hubble type. This
review focuses on our current understanding of the spatial structure, the
kinematics and chemistry of halo stars in the Milky Way. In recent years, we
have experienced a change in paradigm thanks to the discovery of large amounts
of substructure, especially in the outer halo. I discuss the implications of
the currently available observational constraints and fold them into several
possible formation scenarios. Unraveling the formation of the Galactic halo
will be possible in the near future through a combination of large wide field
photometric and spectroscopic surveys, and especially in the era of Gaia.Comment: 46 pages, 16 figures. References updated and some minor changes.
Full-resolution version available at
http://www.astro.rug.nl/~ahelmi/stellar-halo-review.pd
New Mechanics of Traumatic Brain Injury
The prediction and prevention of traumatic brain injury is a very important
aspect of preventive medical science. This paper proposes a new coupled
loading-rate hypothesis for the traumatic brain injury (TBI), which states that
the main cause of the TBI is an external Euclidean jolt, or SE(3)-jolt, an
impulsive loading that strikes the head in several coupled degrees-of-freedom
simultaneously. To show this, based on the previously defined covariant force
law, we formulate the coupled Newton-Euler dynamics of brain's micro-motions
within the cerebrospinal fluid and derive from it the coupled SE(3)-jolt
dynamics. The SE(3)-jolt is a cause of the TBI in two forms of brain's rapid
discontinuous deformations: translational dislocations and rotational
disclinations. Brain's dislocations and disclinations, caused by the
SE(3)-jolt, are described using the Cosserat multipolar viscoelastic continuum
brain model.
Keywords: Traumatic brain injuries, coupled loading-rate hypothesis,
Euclidean jolt, coupled Newton-Euler dynamics, brain's dislocations and
disclinationsComment: 18 pages, 1 figure, Late
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