2,534 research outputs found
The Impact of Lifecourse Socioeconomic Position on Cardiovascular Disease Events in African Americans: The Jackson Heart Study
Peer Reviewedhttps://deepblue.lib.umich.edu/bitstream/2027.42/139126/1/jah3928.pd
Social functioning and behaviour in Mucopolysaccharidosis IH [Hurlers Syndrome]
Background: Mucopolysaccharidosis type IH (MPS-IH) [Hurlers Syndrome] is a developmental genetic disorder characterised by severe physical symptoms and cognitive decline. This study aimed to investigate the behavioural phenotype of MPS-IH treated by haematopoietic cell transplantation, focusing on social functioning and sleep. Parental stress was also measured.
Methods: Participants were 22 children with MPS-IH (mean age 9 years 1 month), of whom 10 were male (45%). Parents completed the Social Responsiveness Scale (SRS), Child Behaviour Checklist (CBCL), Children’s Sleep Habit Questionnaire and Parent Stress Index, Short Form (PSI-SF).
Results: Twenty-three per cent of children with MPS-IH scored in the severe range of the SRS, suggesting significant difficulties in social functioning. Children with MPS-IH were more than 30 times more likely to receive scores in the severe range than typically developing children. Thirty-six per cent scored in the mild-to-moderate range, suggesting milder, but marked, difficulties in social interaction. Although children with MPS-IH did not show significantly higher rates of internalising, externalising or total behaviour problems than the normative sample, they received scores that were significantly higher on social, thought and attention problems and rule-breaking behaviour, and all the competence areas of the CBCL. Parents of children with MPS-IH did not score significantly higher on parental stress than parents in a normative sample.
Conclusions: Parents of children with MPS-IH rate their children as having problems with social functioning and various areas of competence more frequently than previously thought, with implications for clinical support
Perioperative Quality Initiative (POQI) consensus statement on fundamental concepts in perioperative fluid management: fluid responsiveness and venous capacitance
Background:
Optimal fluid therapy in the perioperative and critical care settings depends on understanding the underlying cardiovascular physiology and individualizing assessment of the dynamic patient state.
Methods:
The Perioperative Quality Initiative (POQI-5) consensus conference brought together an international team of multidisciplinary experts to survey and evaluate the literature on the physiology of volume responsiveness and perioperative fluid management. The group used a modified Delphi method to develop consensus statements applicable to the physiologically based management of intravenous fluid therapy in the perioperative setting.
Discussion:
We discussed the clinical and physiological evidence underlying fluid responsiveness and venous capacitance as relevant factors in fluid management and developed consensus statements with clinical implications for a broad group of clinicians involved in intravenous fluid therapy. Two key concepts emerged as follows: (1) The ultimate goal of fluid therapy and hemodynamic management is to support the conditions that enable normal cellular metabolic function in order to produce optimal patient outcomes, and (2) optimal fluid and hemodynamic management is dependent on an understanding of the relationship between pressure, volume, and flow in a dynamic system which is distensible with variable elastance and capacitance properties
Microwave studies of the fractional Josephson effect in HgTe-based Josephson junctions
The rise of topological phases of matter is strongly connected to their
potential to host Majorana bound states, a powerful ingredient in the search
for a robust, topologically protected, quantum information processing. In order
to produce such states, a method of choice is to induce superconductivity in
topological insulators. The engineering of the interplay between
superconductivity and the electronic properties of a topological insulator is a
challenging task and it is consequently very important to understand the
physics of simple superconducting devices such as Josephson junctions, in which
new topological properties are expected to emerge. In this article, we review
recent experiments investigating topological superconductivity in topological
insulators, using microwave excitation and detection techniques. More
precisely, we have fabricated and studied topological Josephson junctions made
of HgTe weak links in contact with two Al or Nb contacts. In such devices, we
have observed two signatures of the fractional Josephson effect, which is
expected to emerge from topologically-protected gapless Andreev bound states.
We first recall the theoretical background on topological Josephson junctions,
then move to the experimental observations. Then, we assess the topological
origin of the observed features and conclude with an outlook towards more
advanced microwave spectroscopy experiments, currently under development.Comment: Lectures given at the San Sebastian Topological Matter School 2017,
published in "Topological Matter. Springer Series in Solid-State Sciences,
vol 190. Springer
Comparative study of imaging at 3.0 T versus 1.5 T of the knee
The objectives of the study were to compare MR imaging at 1.5 and 3.0 T in the same patients concerning image quality and visualization of cartilage pathology and to assess diagnostic performance using arthroscopy as a standard of reference.
Twenty-six patients were identified retrospectively as having comparative 1.5 and 3.0 T MR studies of the knee within an average of 102 days. Standard protocols included T1-weighted and fat-saturated intermediate-weighted fast spin-echo sequences in three planes; sequence parameters had been adjusted to account for differences in relaxation at 3.0 T. Arthroscopy was performed in 19 patients. Four radiologists reviewed each study independently, scored image quality, and analyzed pathological findings. Sensitivities, specificities, and accuracies in diagnosing cartilage lesions were calculated in the 19 patients with arthroscopy, and differences between 1.5 and 3.0 T exams were compared using paired Student’s t tests with a significance threshold of p < 0.05.
Each radiologist scored the 3.0 T studies higher than those obtained at 1.5 T in visualizing anatomical structures and abnormalities (p < 0.05). Using arthroscopy as a standard of reference, diagnosis of cartilage abnormalities was improved at 3.0 T with higher sensitivity (75.7% versus 70.6%), accuracy (88.2% versus 86.4%), and correct grading of cartilage lesions (51.3% versus 42.9%). Diagnostic confidence scores were higher at 3.0 than 1.5 T (p < 0.05) and signal-to-noise ratio at 3.0 T was approximately twofold higher than at 1.5 T.
MRI at 3.0 T improved visualization of anatomical structures and improved diagnostic confidence compared to 1.5 T. This resulted in significantly better sensitivity and grading of cartilage lesions at the knee
Recurrent Modification of a Conserved Cis-Regulatory Element Underlies Fruit Fly Pigmentation Diversity
The development of morphological traits occurs through the collective action of networks of genes connected at the level of gene expression. As any node in a network may be a target of evolutionary change, the recurrent targeting of the same node would indicate that the path of evolution is biased for the relevant trait and network. Although examples of parallel evolution have implicated recurrent modification of the same gene and cis-regulatory element (CRE), little is known about the mutational and molecular paths of parallel CRE evolution. In Drosophila melanogaster fruit flies, the Bric-à-brac (Bab) transcription factors control the development of a suite of sexually dimorphic traits on the posterior abdomen. Female-specific Bab expression is regulated by the dimorphic element, a CRE that possesses direct inputs from body plan (ABD-B) and sex-determination (DSX) transcription factors. Here, we find that the recurrent evolutionary modification of this CRE underlies both intraspecific and interspecific variation in female pigmentation in the melanogaster species group. By reconstructing the sequence and regulatory activity of the ancestral Drosophila melanogaster dimorphic element, we demonstrate that a handful of mutations were sufficient to create independent CRE alleles with differing activities. Moreover, intraspecific and interspecific dimorphic element evolution proceeded with little to no alterations to the known body plan and sex-determination regulatory linkages. Collectively, our findings represent an example where the paths of evolution appear biased to a specific CRE, and drastic changes in function were accompanied by deep conservation of key regulatory linkages. © 2013 Rogers et al
Advancing Tests of Relativistic Gravity via Laser Ranging to Phobos
Phobos Laser Ranging (PLR) is a concept for a space mission designed to
advance tests of relativistic gravity in the solar system. PLR's primary
objective is to measure the curvature of space around the Sun, represented by
the Eddington parameter , with an accuracy of two parts in ,
thereby improving today's best result by two orders of magnitude. Other mission
goals include measurements of the time-rate-of-change of the gravitational
constant, and of the gravitational inverse square law at 1.5 AU
distances--with up to two orders-of-magnitude improvement for each. The science
parameters will be estimated using laser ranging measurements of the distance
between an Earth station and an active laser transponder on Phobos capable of
reaching mm-level range resolution. A transponder on Phobos sending 0.25 mJ, 10
ps pulses at 1 kHz, and receiving asynchronous 1 kHz pulses from earth via a 12
cm aperture will permit links that even at maximum range will exceed a photon
per second. A total measurement precision of 50 ps demands a few hundred
photons to average to 1 mm (3.3 ps) range precision. Existing satellite laser
ranging (SLR) facilities--with appropriate augmentation--may be able to
participate in PLR. Since Phobos' orbital period is about 8 hours, each
observatory is guaranteed visibility of the Phobos instrument every Earth day.
Given the current technology readiness level, PLR could be started in 2011 for
launch in 2016 for 3 years of science operations. We discuss the PLR's science
objectives, instrument, and mission design. We also present the details of
science simulations performed to support the mission's primary objectives.Comment: 25 pages, 10 figures, 9 table
Regulation of the JNK3 signaling pathway during islet isolation: JNK3 and c-fos as new markers of islet quality for transplantation.
Stress conditions generated throughout pancreatic islet processing initiate the activation of pro-inflammatory pathways and beta-cell destruction. Our goal is to identify relevant and preferably beta-specific markers to assess the activation of beta-cell stress and apoptotic mechanisms, and therefore the general quality of the islet preparation prior to transplantation. Protein expression and activation were analyzed by Western blotting and kinase assays. ATP measurements were performed by a luminescence-based assay. Oxygen consumption rate (OCR) was measured based on standard protocols using fiber optic sensors. Total RNA was used for gene expression analyzes. Our results indicate that pancreas digestion initiates a potent stress response in the islets by activating two stress kinases, c-Jun N-terminal Kinase (JNK) and p38. JNK1 protein levels remained unchanged between different islet preparations and following culture. In contrast, levels of JNK3 increased after islet culture, but varied markedly, with a subset of preparations bearing low JNK3 expression. The observed changes in JNK3 protein content strongly correlated with OCR measurements as determined by the Spearman's rank correlation coefficient rho [Formula: see text] in the matching islet samples, while inversely correlating with c-fos mRNA expression [Formula: see text]. In conclusion, pancreas digestion recruits JNK and p38 kinases that are known to participate to beta-cell apoptosis. Concomitantly, the islet isolation alters JNK3 and c-fos expression, both strongly correlating with OCR. Thus, a comparative analysis of JNK3 and c-fos expression before and after culture may provide for novel markers to assess islet quality prior to transplantation. JNK3 has the advantage over all other proposed markers to be islet-specific, and thus to provide for a marker independent of non-beta cell contamination
Cold gas accretion in galaxies
Evidence for the accretion of cold gas in galaxies has been rapidly
accumulating in the past years. HI observations of galaxies and their
environment have brought to light new facts and phenomena which are evidence of
ongoing or recent accretion:
1) A large number of galaxies are accompanied by gas-rich dwarfs or are
surrounded by HI cloud complexes, tails and filaments. It may be regarded as
direct evidence of cold gas accretion in the local universe. It is probably the
same kind of phenomenon of material infall as the stellar streams observed in
the halos of our galaxy and M31. 2) Considerable amounts of extra-planar HI
have been found in nearby spiral galaxies. While a large fraction of this gas
is produced by galactic fountains, it is likely that a part of it is of
extragalactic origin. 3) Spirals are known to have extended and warped outer
layers of HI. It is not clear how these have formed, and how and for how long
the warps can be sustained. Gas infall has been proposed as the origin. 4) The
majority of galactic disks are lopsided in their morphology as well as in their
kinematics. Also here recent accretion has been advocated as a possible cause.
In our view, accretion takes place both through the arrival and merging of
gas-rich satellites and through gas infall from the intergalactic medium (IGM).
The infall may have observable effects on the disk such as bursts of star
formation and lopsidedness. We infer a mean ``visible'' accretion rate of cold
gas in galaxies of at least 0.2 Msol/yr. In order to reach the accretion rates
needed to sustain the observed star formation (~1 Msol/yr), additional infall
of large amounts of gas from the IGM seems to be required.Comment: To appear in Astronomy & Astrophysics Reviews. 34 pages.
Full-resolution version available at
http://www.astron.nl/~oosterlo/accretionRevie
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