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Classic Bladder Exstrophy: Frequent 22q11.21 Duplications and Definition of a 414 kb Phenocritical Region

Background: Classic bladder exstrophy (CBE) is the most common form of the bladder exstrophy and epispadias complex. Previously, we and others have identified four patients with a duplication of 22q11.21 among a total of 96 unrelated CBE patients. Methods: Here, we investigated whether this chromosomal aberration was commonly associated with CBE/bladder exstrophy and epispadias complex in an exten

NIH working group report-using genomic information to guide weight management: From universal to precision treatment.

Precision medicine utilizes genomic and other data to optimize and personalize treatment. Although more than 2,500 genetic tests are currently available, largely for extreme and/or rare phenotypes, the question remains whether this approach can be used for the treatment of common, complex conditions like obesity, inflammation, and insulin resistance, which underlie a host of metabolic diseases.

Search for anomalous production of prompt like-sign muon pairs and constraints on physics beyond the standard model with the ATLAS detector

An inclusive search for anomalous production of two prompt, isolated muons with the same electric charge is presented. The search is performed in a data sample corresponding to 1.6 fb(-1) of integrated luminosity collected in 2011 at root s = 7 TeV with the ATLAS detector at the LHC. Muon pairs are selected by requiring two isolated muons of the same electric charge with p(T) > 20 GeV and vertical

A dedicated investigation unit improves management of syncopal attacks (Syncope Study of Unselected Population in Malmo--SYSTEMA I).

Aims To investigate whether a systematic approach to unexplained syncopal attacks based on the European Society of Cardiology guidelines would improve the diagnostic and therapeutic outcomes. Methods and results Patients presenting with transient loss of consciousness to the Emergency Department of Skåne University Hospital in Malmö were registered by triage staff. Those with established cardiac,

Treatment of proximal interphalangeal joint fractures by the pins and rubbers traction system: a follow-up.

Abstract A fracture of the proximal interphalangeal (PIP) joint at the base of the middle phalanx is rare, but is a challenge to treat. Posttraumatic osteoarthritis is a known complication causing impaired hand function and disability. The aim of the present retrospective study was to evaluate characteristics and outcome of complex PIP joint fractures treated by the pins and rubbers traction syste

Imaging polarimetry of the fogbow: polarization characteristics of white rainbows measured in the high Arctic

The knowledge on the optics of fogbows is scarce, and their polarization characteristics have never been measured to our knowledge. To fill this gap we measured the polarization features of 16 fogbows during the Beringia 2005 Arctic polar research expedition by imaging polarimetry in the red, green and blue spectral ranges. We present here the first polarization patterns of the fogbow. In the patt

The GARD assay for assessment of chemical skin sensitizers.

Allergic contact dermatitis is a skin disease caused by an immunologic reaction to low molecular weight compounds, so called haptens. These substances are commonly present in products used by humans in daily life, such as in cosmetics and fragrances, as well as within chemical industry and in pharmaceuticals. The frequent usage of these compounds in different applications has led to increasing inc

Are 25 SNPs from the CARDIoGRAM study associated with ischaemic stroke?

BACKGROUND AND PURPOSE: The Coronary Artery Disease Genome-Wide Replication and Meta-Analysis Study (CARDIoGRAM) reported 25 single-nucleotide polymorphisms (SNPs) on 15 chromosomes to be associated with coronary artery disease (CAD) risk. Because common vascular risk factors are shared between CAD and ischaemic stroke (IS), these SNPs may also be related to IS overall or one or more of its pathog

Rational design of D-A1-D-A2 conjugated polymers with superior spectral coverage.

The spectral coverage of a light-harvesting polymer largely determines the maximum achievable photocurrent in organic photovoltaics, and therefore constitutes a crucial parameter for improving their performance. The D-A1-D-A2 copolymer motif is a new and promising design strategy for extending the absorption range by incorporating two acceptor units with complementary photoresponses. The fundament

Top-down isoprene emissions over tropical South America inferred from SCIAMACHY and OMI formaldehyde columns

We use formaldehyde (HCHO) vertical column measurements from the Scanning Imaging Absorption spectrometer for Atmospheric Chartography (SCIAMACHY) and Ozone Monitoring Instrument (OMI), and a nested-grid version of the GEOS-Chem chemistry transport model, to infer an ensemble of top-down isoprene emission estimates from tropical South America during 2006, using different model configurations and a

A revision of Hieracium (Asteraceae) in Norrbotten, northeastern-most Sweden, revealed seven new species

The large quantity of material of Hieracium sectt. Hieracium, Vulgata, Bifida and Oreadea collected during the recently completed floristic inventory of the northeastern most Swedish province of Norrbotten has been revised. The number of species known from this previously badly under-collected province hereby increased from 27 to 64, and seven species new to science were revealed. A diagnostic key

Characterization of the Lipid Droplet Proteome of a Clonal Insulin-producing β-Cell Line (INS-1 832/13).

Lipids are known to play a crucial role both in the normal control of insulin release and in the deterioration of β-cell function, as observed in type 2 diabetes. Despite this established dual role of lipids, little is known about lipid storage and handling in β-cells. Here, we isolated lipid droplets from oleate-incubated INS-1 832/13 cells and characterized the lipid droplet proteome. In a total

Risk factors for Clostridium difficile infection in the community: a case-control study in patients in general practice, Denmark, 2009-2011

To identify risk factors for Clostridium difficile infection (CDI) in Danish patients consulting general practice with gastrointestinal symptoms, a prospective matched case-control study was performed; cases (N=259) had positive cultures for toxigenic C. difficile and controls (N=455) negative cultures. Data were analysed by conditional logistic regression. In patients aged 2 years (138 cases), ho

Secondary organic aerosol formation from gasoline passenger vehicle emissions investigated in a smog chamber

Gasoline vehicles have elevated emissions of volatile organic compounds during coldstarts and idling and have recently been pointed out as potentially the main sourceof anthropogenic secondary organic aerosol (SOA) in megacities. However, there is5 a lack of laboratory studies to systematically investigate SOA formation in real-worldexhaust. In this study, SOA formation from pure aromatic precurso

Development and validation of the Fast Assessment in Acute Treatment of Psychosis-Observation Rating Scale (FAST-O)

Objectives. There is a need for an observation scale for assessment and monitoring of acutely psychotic patients. Milestones based on such ratings should be defined, similar to the PANSS-based Remission criteria. FAST-O is such an instrument (11 items and a CGI rating). Methods. Reliability, validity and factor structure were analyzed in four separate studies-most importantly in one study of 33 ch