265 research outputs found
Calibration of quasi-static aberrations in exoplanet direct-imaging instruments with a Zernike phase-mask sensor. II. Concept validation with ZELDA on VLT/SPHERE
Warm or massive gas giant planets, brown dwarfs, and debris disks around
nearby stars are now routinely observed by dedicated high-contrast imaging
instruments on large, ground-based observatories. These facilities include
extreme adaptive optics (ExAO) and state-of-the-art coronagraphy to achieve
unprecedented sensitivities for exoplanet detection and spectral
characterization. However, differential aberrations between the ExAO sensing
path and the science path represent a critical limitation for the detection of
giant planets with a contrast lower than a few at very small
separations (<0.3\as) from their host star. In our previous work, we proposed a
wavefront sensor based on Zernike phase contrast methods to circumvent this
issue and measure these quasi-static aberrations at a nanometric level. We
present the design, manufacturing and testing of ZELDA, a prototype that was
installed on VLT/SPHERE during its reintegration in Chile. Using the internal
light source of the instrument, we performed measurements in the presence of
Zernike or Fourier modes introduced with the deformable mirror. Our
experimental and simulation results are consistent, confirming the ability of
our sensor to measure small aberrations (<50 nm rms) with nanometric accuracy.
We then corrected the long-lived non-common path aberrations in SPHERE based on
ZELDA measurements. We estimated a contrast gain of 10 in the coronagraphic
image at 0.2\as, reaching the raw contrast limit set by the coronagraph in the
instrument. The simplicity of the design and its phase reconstruction algorithm
makes ZELDA an excellent candidate for the on-line measurements of quasi-static
aberrations during the observations. The implementation of a ZELDA-based
sensing path on the current and future facilities (ELTs, future space missions)
could ease the observation of the cold gaseous or massive rocky planets around
nearby stars.Comment: 13 pages, 12 figures, A&A accepted on June 3rd, 2016. v2 after
language editin
SUBARU prime focus spectrograph: integration, testing and performance for the first spectrograph
The Prime Focus Spectrograph (PFS) of the Subaru Measurement of Images and
Redshifts (SuMIRe) project for Subaru telescope consists in four identical
spectrographs fed by 600 fibers each. Each spectrograph is composed by an
optical entrance unit that creates a collimated beam and distributes the light
to three channels, two visibles and one near infrared. This paper presents the
on-going effort for the tests & integration process for the first spectrograph
channel: we have developed a detailed Assembly Integration and Test (AIT) plan,
as well as the methods, detailed processes and I&T tools. We describe the tools
we designed to assemble the parts and to test the performance of the
spectrograph. We also report on the thermal acceptance tests we performed on
the first visible camera unit. We also report on and discuss the technical
difficulties that did appear during this integration phase. Finally, we detail
the important logistic process that is require to transport the components from
other country to Marseille
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Acute, chronic and conditioned effects of intranasal oxytocin in the mu-opioid receptor knockout mouse model of autism: Social context matters
Autism Spectrum Disorders (ASD) are neurodevelopmental disorders whose diagnosis relies on deficient social interaction and communication together with repetitive behaviours. Multiple studies have highlighted the potential of oxytocin (OT) to ameliorate behavioural abnormalities in animal models and subjects with ASD. Clinical trials, however, yielded disappointing results. Our study aimed at assessing the behavioural effects of different regimens of OT administration in the Oprm1 null mouse model of ASD. We assessed the effects of intranasal OT injected once at different doses (0.15, 0.3, and 0.6 IU) and time points (5, 15, and 30 min) following administration, or chronically, on ASD-related behaviours (social interaction and preference, stereotypies, anxiety, nociception) in Oprm1+/+ and Oprm1-/- mice. We then tested whether pairing intranasal OT injection with social experience would influence its outcome on ASD-like symptoms, and measured gene expression in the reward/social circuit. Acute intranasal OT at 0.3 IU improved social behaviour in Oprm1-/- mice 5 min after administration, with limited effects on non-social behaviours. Chronic (8–17 days) OT maintained rescuing effects in Oprm1 null mice but was deleterious in wild-type mice. Finally, improvements in the social behaviour of Oprm1-/- mice were greater and longer lasting when OT was administered in a social context. Under these conditions, the expression of OT and vasopressin receptor genes, as well as marker genes of striatal projection neurons, was suppressed. We detected no sex difference in OT effects. Our results highlight the importance of considering dosage and social context when evaluating the effects of OT treatment in ASD
Deletion of the GABAA α2-subunit does not alter self dministration of cocaine or reinstatement of cocaine seeking
Rationale
GABAA receptors containing α2-subunits are highly represented in brain areas that are involved in motivation and reward, and have been associated with addiction to several drugs, including cocaine. We have shown previously that a deletion of the α2-subunit results in an absence of sensitisation to cocaine.
Objective
We investigated the reinforcing properties of cocaine in GABAA α2-subunit knockout (KO) mice using an intravenous self-administration procedure.
Methods
α2-subunit wildtype (WT), heterozygous (HT) and KO mice were trained to lever press for a 30 % condensed milk solution. After implantation with a jugular catheter, mice were trained to lever press for cocaine (0.5 mg/kg/infusion) during ten daily sessions. Responding was extinguished and the mice tested for cue- and cocaine-primed reinstatement. Separate groups of mice were trained to respond for decreasing doses of cocaine (0.25, 0.125, 0.06 and 0.03 mg/kg).
Results
No differences were found in acquisition of lever pressing for milk. All genotypes acquired self-administration of cocaine and did not differ in rates of self-administration, dose dependency or reinstatement. However, whilst WT and HT mice showed a dose-dependent increase in lever pressing during the cue presentation, KO mice did not.
Conclusions
Despite a reported absence of sensitisation, motivation to obtain cocaine remains unchanged in KO and HT mice. Reinstatement of cocaine seeking by cocaine and cocaine-paired cues is also unaffected. We postulate that whilst not directly involved in reward perception, the α2-subunit may be involved in modulating the “energising” aspect of cocaine’s effects on reward-seeking
The Cerenkov effect revisited: from swimming ducks to zero modes in gravitational analogs
We present an interdisciplinary review of the generalized Cerenkov emission
of radiation from uniformly moving sources in the different contexts of
classical electromagnetism, superfluid hydrodynamics, and classical
hydrodynamics. The details of each specific physical systems enter our theory
via the dispersion law of the excitations. A geometrical recipe to obtain the
emission patterns in both real and wavevector space from the geometrical shape
of the dispersion law is discussed and applied to a number of cases of current
experimental interest. Some consequences of these emission processes onto the
stability of condensed-matter analogs of gravitational systems are finally
illustrated.Comment: Lecture Notes at the IX SIGRAV School on "Analogue Gravity" in Como,
Italy from May 16th-21th, 201
Pseudoachondroplasia and Multiple Epiphyseal Dysplasia: A 7-Year Comprehensive Analysis of the Known Disease Genes Identify Novel and Recurrent Mutations and Provides an Accurate Assessment of Their Relative Contribution
Pseudoachondroplasia (PSACH) and multiple epiphyseal dysplasia (MED) are relatively common skeletal dysplasias resulting in short-limbed dwarfism, joint pain, and stiffness. PSACH and the largest proportion of autosomal dominant MED (AD-MED) results from mutations in cartilage oligomeric matrix protein (COMP); however, AD-MED is genetically heterogenous and can also result from mutations in matrilin-3 (MATN3) and type IX collagen (COL9A1, COL9A2, and COL9A3). In contrast, autosomal recessive MED (rMED) appears to result exclusively from mutations in sulphate transporter solute carrier family 26 (SLC26A2). The diagnosis of PSACH and MED can be difficult for the nonexpert due to various complications and similarities with other related diseases and often mutation analysis is requested to either confirm or exclude the diagnosis. Since 2003, the European Skeletal Dysplasia Network (ESDN) has used an on-line review system to efficiently diagnose cases referred to the network prior to mutation analysis. In this study, we present the molecular findings in 130 patients referred to ESDN, which includes the identification of novel and recurrent mutations in over 100 patients. Furthermore, this study provides the first indication of the relative contribution of each gene and confirms that they account for the majority of PSACH and MED. Hum Mutat 33:144–157, 2012. © 2011 Wiley Periodicals, Inc
Mutations in KCTD1 Cause Scalp-Ear-Nipple Syndrome
Scalp-ear-nipple (SEN) syndrome is a rare, autosomal-dominant disorder characterized by cutis aplasia of the scalp; minor anomalies of the external ears, digits, and nails; and malformations of the breast. We used linkage analysis and exome sequencing of a multiplex family affected by SEN syndrome to identify potassium-channel tetramerization-domain-containing 1 (KCTD1) mutations that cause SEN syndrome. Evaluation of a total of ten families affected by SEN syndrome revealed KCTD1 missense mutations in each family tested. All of the mutations occurred in a KCTD1 region encoding a highly conserved bric-a-brac, tram track, and broad complex (BTB) domain that is required for transcriptional repressor activity. KCTD1 inhibits the transactivation of the transcription factor AP-2 alpha (TFAP2A) via its BTB domain, and mutations in TFAP2A cause cutis aplasia in individuals with branchiooculofacial syndrome (BOFS), suggesting a potential overlap in the pathogenesis of SEN syndrome and BOFS. the identification of KCTD1 mutations in SEN syndrome reveals a role for this BTB-domain-containing transcriptional repressor during ectodermal development.National Institutes of Health National Human Genome Research InstituteLife Sciences Discovery FundWashington Research FoundationMassachusetts Gen Hosp, Cutaneous Biol Res Ctr, Charlestown, MA 02129 USAUniv Washington, Dept Pediat, Seattle, WA 98195 USAUniv Washington, Dept Genome Sci, Seattle, WA 98195 USAUniv Western Sydney Macarthur, Sch Med, Campbelltown, NSW 2560, AustraliaGenet Learning Disabil Serv, Newcastle, NSW 2298, AustraliaJohns Hopkins Univ, Sch Med, McKusick Nathans Inst Genet Med, Baltimore, MD 21205 USAUniversidade Federal de São Paulo, Dept Morphol & Genet, Clin Genet Ctr, BR-04021001 São Paulo, BrazilPontificia Univ Catolica Parana, Dept Internal Med, BR-1155 Curitiba, Parana, BrazilWestern Gen Hosp, South East Scotland Clin Genet Serv, Edinburgh EH4 2XU, Midlothian, ScotlandUniv Florence, Dept Genet & Mol Med, I-50132 Florence, ItalyHop Necker Enfants Malad, Dept Genet, INSERM, U781, F-75015 Paris, FranceUniv Paris Descartes Sorbonne Paris Cite, Inst Imagine, F-75015 Paris, FranceHop Cote Nacre, CHU Caen, Serv Genet, F-14033 Caen 9, FranceUniv Connecticut, Ctr Hlth, Dept Reconstruct Sci, Farmington, CT 06030 USABoston Childrens Hosp, Dept Plast & Oral Surg, Boston, MA 02115 USATreuman Katz Ctr Pediat Bioeth, Seattle Childrens Res Inst, Seattle, WA 98101 USAUniversidade Federal de São Paulo, Dept Morphol & Genet, Clin Genet Ctr, BR-04021001 São Paulo, BrazilNational Institutes of Health National Human Genome Research Institute: 1U54HG006493National Institutes of Health National Human Genome Research Institute: 1RC2HG005608National Institutes of Health National Human Genome Research Institute: 5RO1HG004316Life Sciences Discovery Fund: 2065508Life Sciences Discovery Fund: 0905001Web of Scienc
A novel deletion mutation of the EXT2 gene in a large Chinese pedigree with hereditary multiple exostosis
Hereditary multiple exostoses (EXT) is an autosomal dominant disease characterized by the formation of cartilage-capped prominences (exostoses) that develop from the juxta-epiphyseal regions of the long bones. 3 genes are known to be involved in the formation of exostoses. Among them, EXT1 and EXT2, which encode enzymes that catalyse the biosynthesis of heparan sulfate, an important component of the extracellular matrix, are responsible for over 70% of the EXT cases. A large Chinese family with hereditary multiple exostoses has been analysed and the disease-causing mutation has been found. Blood samples were obtained from 69 family members, including 23 affected individuals. The EXT phenotype was shown to be linked to the EXT2 gene by using 2-point linkage analysis. After polymerase chain reaction (PCR)-single strand conformation polymorphism (SSCP) analysis and DNA sequencing, a previously unreported deletion of a G in exon 3 of EXT2 gene was observed. This deletion co-segregated with the disease phenotype, suggesting that it is the disease-causing mutation in this family. Furthermore, in at least 4 members chondrosarcoma occurred after either an operation or injury of the exostosis and 3 of them died of the malignance in the family. Whether the operation or injury was responsible for the malignant transformation still needs further study. © 2001 Cancer Research Campaign http://www.bjcancer.co
First light of VLT/HiRISE: High-resolution spectroscopy of young giant exoplanets
A major endeavor of this decade is the direct characterization of young giant exoplanets at high spectral resolution to determine the composition of their atmosphere and infer their formation processes and evolution. Such a goal represents a major challenge owing to their small angular separation and luminosity contrast with respect to their parent stars. Instead of designing and implementing completely new facilities, it has been proposed to leverage the capabilities of existing instruments that offer either high-contrast imaging or high-dispersion spectroscopy by coupling them using optical fibers. In this work, we present the implementation and first on-sky results of the High-Resolution Imaging and Spectroscopy of Exoplanets (HiRISE) instrument at the Very Large Telescope (VLT), which combines the exoplanet imager SPHERE with the recently upgraded high-resolution spectrograph CRIRES using single-mode fibers. The goal of HiRISE is to enable the characterization of known companions in the H band at a spectral resolution on the order of R = λ/∆λ = 100 000 in a few hours of observing time. We present the main design choices and the technical implementation of the system, which is constituted of three major parts: the fiber injection module inside of SPHERE, the fiber bundle around the telescope, and the fiber extraction module at the entrance of CRIRES. We also detail the specific calibrations required for HiRISE and the operations of the instrument for science observations. Finally, we detail the performance of the system in terms of astrometry, temporal stability, optical aberrations, and transmission, for which we report a peak value of ~3.9% based on sky measurements in median observing conditions. Finally, we report on the first astrophysical detection of HiRISE to illustrate its potential
Spondyloenchondrodysplasia Due to Mutations in ACP5: A Comprehensive Survey
Purpose: Spondyloenchondrodysplasia is a rare immuno-osseous dysplasia caused by biallelic mutations in ACP5. We aimed to provide a survey of the skeletal, neurological and immune manifestations of this disease in a cohort of molecularly confirmed cases. Methods: We compiled clinical, genetic and serological data from a total of 26 patients from 18 pedigrees, all with biallelic ACP5 mutations. Results: We observed a variability in skeletal, neurological and immune phenotypes, which was sometimes marked even between affected siblings. In total, 22 of 26 patients manifested autoimmune disease, most frequently autoimmune thrombocytopenia and systemic lupus erythematosus. Four patients were considered to demonstrate no clinical autoimmune disease, although two were positive for autoantibodies. In the majority of patients tested we detected upregulated expression of interferon-stimulated genes (ISGs), in keeping with the autoimmune phenotype and the likely immune-regulatory function of the deficient protein tartrate resistant acid phosphatase (TRAP). Two mutation positive patients did not demonstrate an upregulation of ISGs, including one patient with significant autoimmune disease controlled by immunosuppressive therapy. Conclusions: Our data expand the known phenotype of SPENCD. We propose that the OMIM differentiation between spondyloenchondrodysplasia and spondyloenchondrodysplasia with immune dysregulation is no longer appropriate, since the molecular evidence that we provide suggests that these phenotypes represent a continuum of the same disorder. In addition, the absence of an interferon signature following immunomodulatory treatments in a patient with significant autoimmune disease may indicate a therapeutic response important for the immune manifestations of spondyloenchondrodysplasia
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