Clusters of galaxies : observational properties of the diffuse radio emission

Clusters of galaxies, as the largest virialized systems in the Universe, are ideal laboratories to study the formation and evolution of cosmic structures...(abridged)... Most of the detailed knowledge of galaxy clusters has been obtained in recent years from the study of ICM through X-ray Astronomy. At the same time, radio observations have proved that the ICM is mixed with non-thermal components, i.e. highly relativistic particles and large-scale magnetic fields, detected through their synchrotron emission. The knowledge of the properties of these non-thermal ICM components has increased significantly, owing to sensitive radio images and to the development of theoretical models. Diffuse synchrotron radio emission in the central and peripheral cluster regions has been found in many clusters. Moreover large-scale magnetic fields appear to be present in all galaxy clusters, as derived from Rotation Measure (RM) studies. Non-thermal components are linked to the cluster X-ray properties, and to the cluster evolutionary stage, and are crucial for a comprehensive physical description of the intracluster medium. They play an important role in the cluster formation and evolution. We review here the observational properties of diffuse non-thermal sources detected in galaxy clusters: halos, relics and mini-halos. We discuss their classification and properties. We report published results up to date and obtain and discuss statistical properties. We present the properties of large-scale magnetic fields in clusters and in even larger structures: filaments connecting galaxy clusters. We summarize the current models of the origin of these cluster components, and outline the improvements that are expected in this area from future developments thanks to the new generation of radio telescopes.Comment: Accepted for the publication in The Astronomy and Astrophysics Review. 58 pages, 26 figure

Remodeling of the chromatin structure of the facioscapulohumeral muscular dystrophy (FSHD) locus and upregulation of FSHD-related gene 1 (FRG1) expression during human myogenic differentiation

<p>Abstract</p> <p>Background</p> <p>Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominant neuromuscular disorder associated with the partial deletion of integral numbers of 3.3 kb D4Z4 DNA repeats within the subtelomere of chromosome 4q. A number of candidate FSHD genes, adenine nucleotide translocator 1 gene (<it>ANT1</it>), FSHD-related gene 1 (<it>FRG1</it>), <it>FRG2 </it>and <it>DUX4c</it>, upstream of the D4Z4 array (FSHD locus), and double homeobox chromosome 4 (<it>DUX4</it>) within the repeat itself, are upregulated in some patients, thus suggesting an underlying perturbation of the chromatin structure. Furthermore, a mouse model overexpressing <it>FRG1 </it>has been generated, displaying skeletal muscle defects.</p> <p>Results</p> <p>In the context of myogenic differentiation, we compared the chromatin structure and tridimensional interaction of the D4Z4 array and <it>FRG1 </it>gene promoter, and <it>FRG1 </it>expression, in control and FSHD cells. The <it>FRG1 </it>gene was prematurely expressed during FSHD myoblast differentiation, thus suggesting that the number of D4Z4 repeats in the array may affect the correct timing of <it>FRG1 </it>expression. Using chromosome conformation capture (3C) technology, we revealed that the <it>FRG1 </it>promoter and D4Z4 array physically interacted. Furthermore, this chromatin structure underwent dynamic changes during myogenic differentiation that led to the loosening of the <it>FRG1</it>/4q-D4Z4 array loop in myotubes. The <it>FRG1 </it>promoter in both normal and FSHD myoblasts was characterized by H3K27 trimethylation and Polycomb repressor complex binding, but these repression signs were replaced by H3K4 trimethylation during differentiation. The D4Z4 sequences behaved similarly, with H3K27 trimethylation and Polycomb binding being lost upon myogenic differentiation.</p> <p>Conclusion</p> <p>We propose a model in which the D4Z4 array may play a critical chromatin function as an orchestrator of <it>in cis </it>chromatin loops, thus suggesting that this repeat may play a role in coordinating gene expression.</p

Dissection of genetic associations with language-related traits in population-based cohorts

Recent advances in the field of language-related disorders have led to the identification of candidate genes for specific language impairment (SLI) and dyslexia. Replication studies have been conducted in independent samples including population-based cohorts, which can be characterised for a large number of relevant cognitive measures. The availability of a wide range of phenotypes allows us to not only identify the most suitable traits for replication of genetic association but also to refine the associated cognitive trait. In addition, it is possible to test for pleiotropic effects across multiple phenotypes which could explain the extensive comorbidity observed across SLI, dyslexia and other neurodevelopmental disorders. The availability of genome-wide genotype data for such cohorts will facilitate this kind of analysis but important issues, such as multiple test corrections, have to be taken into account considering that small effect sizes are expected to underlie such associations

Hepatitis G virus / GB virus C in Brazil. Preliminary report

O vírus da Hepatite G ou vírus GB-C é um novo vírus recentemente descoberto em casos de hepatites não A-E. Neste estudo, casos de hepatite crônica não-B, não-C foram testados com uma reação de amplificação específica para GBV-C. Este vírus foi detectado em 1 entre os 13 casos estudados. Este paciente apresentava insuficiência hepática severa, tinha habitado por vários anos na Amazônia Ocidental e nenhuma outra causa para este quadro clínico havia sido relatada. O impacto da descoberta deste novo agente está ainda sendo investigado. O estudo da prevalência deste vírus entre pacientes com hepatite crônica e entre indivíduos sadios (como, por exemplo, doadores de sangue) fornecerá subsídios para o estabelecimento de sua real patogenicidade.Hepatitis G virus/ GB virus C is a novel flavivirus recently detected in hepatitis non A-E cases. In this study, the presence of this virus in chronic non-B, non-C hepatitis patients was evaluated using GBV-C specific PCR and this virus was detected in one out of thirteen patients. This patient has presented a severe liver failure, has lived for a long time in the Western Amazon basin and no other cause for this clinical picture was reported. The impact of the discovery of this new agent is still under evaluation throughout the world. The study of the prevalence of this virus among chronic hepatitis patients and healthy individuals (as blood donors) will furnish subside to evaluate its real pathogenicity

Vírus da Hepatite G / Vírus GB-C no Brasil

O vírus da Hepatite G ou vírus GB-C é um novo vírus recentemente descoberto em casos de hepatites não A-E. Neste estudo, casos de hepatite crônica não-B, não-C foram testados com uma reação de amplificação específica para GBV-C. Este vírus foi detectado em 1 entre os 13 casos estudados. Este paciente apresentava insuficiência hepática severa, tinha habitado por vários anos na Amazônia Ocidental e nenhuma outra causa para este quadro clínico havia sido relatada. O impacto da descoberta deste novo agente está ainda sendo investigado. O estudo da prevalência deste vírus entre pacientes com hepatite crônica e entre indivíduos sadios (como, por exemplo, doadores de sangue) fornecerá subsídios para o estabelecimento de sua real patogenicidade.Hepatitis G virus/ GB virus C is a novel flavivirus recently detected in hepatitis non A-E cases. In this study, the presence of this virus in chronic non-B, non-C hepatitis patients was evaluated using GBV-C specific PCR and this virus was detected in one out of thirteen patients. This patient has presented a severe liver failure, has lived for a long time in the Western Amazon basin and no other cause for this clinical picture was reported. The impact of the discovery of this new agent is still under evaluation throughout the world. The study of the prevalence of this virus among chronic hepatitis patients and healthy individuals (as blood donors) will furnish subside to evaluate its real pathogenicity

Gadobenate dimeglumine-enhanced MR angiography: Diagnostic performance of four doses for detection and grading of carotid, renal, and aorto-iliac stenoses compared to digital subtraction angiography.

PURPOSE: To determine the diagnostic performance of contrast-enhanced MR angiography (CE-MRA) with four doses of gadobenate dimeglumine for detection of significant steno-occlusive disease of the carotid, renal, and pelvic vasculature. MATERIALS AND METHODS: Eighty-four patients with suspected disease of the renal (n = 16), pelvic (n = 41), or carotid (n = 27) arteries underwent CE-MRA (3D-spoiled gradient-echo sequences) at 1.5T. CE-MRA was performed with gadobenate dimeglumine at 0.025, 0.05, 0.1, or 0.2 mmol/kg (23, 24, 19, and 18 patients, respectively) administered at 2 mL/sec. Accuracy, sensitivity, specificity, and positive and negative predictive values (PPV and NPV, respectively) for detection of significant disease (>50% stenosis or occlusion for renal/pelvic arteries; >70% stenosis or occlusion for carotid arteries) was determined by three fully blinded, independent radiologists using conventional digital subtraction angiography (DSA) as reference standard. All comparisons were tested statistically (ANOVA, chi-square, and Mantel-Haenszel tests as appropriate) and reader agreement (kappa) was assessed. RESULTS: Values for accuracy, sensitivity, specificity, PPV, and NPV on CE-MRA were consistently higher for 0.1 mmol/kg gadobenate dimeglumine (accuracy = 95.2-97.3%, sensitivity = 84.2% (all readers), specificity = 96.9-99.2%, PPV = 80.0-94.1%, NPV = 97.6-97.7%). The greater accuracy of the 0.1 mmol/kg dose was significant (P /=0.58), with the highest percent agreement (85.7%) noted for the 0.1 mmol/kg dose. CONCLUSION: Significantly better diagnostic performance on CE-MRA of the renal, pelvic, and carotid arteries is achieved with a gadobenate dimeglumine dose of 0.1 mmol/kg bodyweight. (c) 2007 Wiley-Liss, Inc

AP1S2 is mutated in X-linked Dandy–Walker malformation with intellectual disability, basal ganglia disease and seizures (Pettigrew syndrome)

International audienc

A novel long-range enhancer regulates postnatal expression of Zeb2: implications for Mowat-Wilson syndrome phenotypes

The zinc-finger, E-box-binding homeobox-2 (Zeb2) gene encodes a SMAD-interacting transcription factor that has diverse roles in development and disease. Mutations at the hZeb2 locus cause Mowat–Wilson syndrome (MWS), a genetic disorder that is associated with mental retardation and other, case- and sex-dependent clinical features. Recent studies have detailed microRNA-mediated control of Zeb2, but little is known about the genomic context of this gene or of enhancer sequences that may direct its diverse functions. Here, we describe a novel transgenic rodent model in which Zeb2 regulatory sequence has been disrupted, resulting in a postnatal developmental phenotype that is autosomal dominant. The phenotype exhibits a genotype-by-sex interaction and manifests primarily as an acute attenuation of postnatal kidney development in males. Other aspects of embryonic and neonatal development, including neuronal, are unaffected. The transgene insertion site is associated with a 12 kb deletion, 1.2 Mb upstream of Zeb2, within a 4.1 Mb gene desert. A conserved sequence, derived from the deleted region, enhanced Zeb2 promoter activity in transcription assays. Tissue and temporal restriction of this enhancer activity may involve postnatal changes in proteins that bind this sequence. A control human/mouse VISTA enhancer (62 kb upstream of Zeb2) also up-regulated the Zeb2 promoter, providing evidence of a string of conserved distal enhancers. The phenotype arising from deletion of one copy of the extreme long-range enhancer indicates a critical role for this enhancer at one developmental stage. Haploinsufficiency of Zeb2 in this developmental context reflects inheritance of MWS and may underlie some sex-dependent, non-neural characteristics of this human inherited disorder