Am J Med Genet A

We report on a girl with delayed mental and motor development, ophthalmological abnormalities, and peripheral neuropathy. Chromosome analysis suggested a deletion within chromosome 8p. Further investigation by array-based comparative genomic hybridization (array-CGH) delineated an 8 Mb interstitial deletion on the short arm of chromosome 8. The breakpoints are located at chromosome bands 8p12 and 8p21.2. Forty-two known genes including gonadotropin-releasing hormone 1 (GNRH1), transcription factor EBF2, exostosin-like 3 (EXTL3), glutathione reductase (GSR), and neuregulin 1 (NRG1), are located within the deleted region on chromosome 8p. A comparison of our patient with the cases described in the literature is presented, and we discuss the genotype-phenotype correlation in our patient. This is the first report of array-CGH analysis of an interstitial deletion at chromosome 8p

Place attachment in deprived neighbourhoods: The impacts of population turnover and social mix

This paper examines the determinants of individual place attachment, focussing in particular on differences between deprived and others neighbourhoods, and on the impacts of population turnover and social mix. It uses a multi-level modelling approach to take account of both individual- and neighbourhood-level determinants. Data are drawn from a large sample government survey, the Citizenship Survey 2005, to which a variety of neighbourhood-level data have been attached. The paper argues that attachment is significantly lower in more deprived neighbourhoods primarily because these areas have weaker social cohesion but that, in other respects, the drivers of attachment are the same. Turnover has modest direct impacts on attachment through its effect on social cohesion. Social mix has very limited impacts on attachment and the effects vary between social groups. In general, higher status or more dominant groups appear less tolerant of social mix

Citizens without nations

To broach the question of whether citizenship could exist without (or beyond) community, this paper discusses genealogies of citizenship as membership that binds an individual to the community of birth (of the self or a parent). It is birthright as fraternity that blurs the boundary between citizenship and nationality. After briefly discussing recent critical studies on birthright citizenship (whether it is civic or ethnic or blood or soil) by Ayelet Shachar and Jacqueline Stevens, the paper discusses three critical genealogies of the relationship between birthright and citizenship by Max Weber, Hannah Arendt, and Michel Foucault. Although each provides a critical perspective into the question, Weber reduces citizenship to fraternity with nation and Arendt reduces citizenship to fraternity with the state. It is Foucault who illustrates racialization of fraternity as the connection between citizenship and nationality. Yet, since Foucault limits his genealogical investigations to the 18th and 19th centuries, a genealogy of fraternity of what he calls an immense biblical and Greek tradition remains for Derrida to articulate as a question of citizenship

Culture and personality revisited: Behavioral profiles and within‐person stability in interdependent (vs. independent) social orientation and holistic (vs. analytic) cognitive style

ObjectiveWe test the proposition that both social orientation and cognitive style are constructs consisting of loosely related attributes. Thus, measures of each construct should weakly correlate among themselves, forming intraindividually stable profiles across measures over time.MethodStudy 1 tested diverse samples of Americans (N = 233) and Japanese (N = 433) with a wide range of measures of social orientation and cognitive style to explore correlations among these measures in a cross‐cultural context, using demographically heterogeneous samples. Study 2 recruited a new sample of 485 Americans and Canadians and examined their profiles on measures of social orientation and cognitive style twice, one month apart, to assess the stability of individual profiles using these variables.ResultsDespite finding typical cross‐cultural differences, Study 1 demonstrated negligible correlations both among measures of social orientation and among measures of cognitive style. Study 2 demonstrated stable intraindividual behavioral profiles across measures capturing idiosyncratic patters of social orientation and cognitive style, despite negligible correlations among the same measures.ConclusionThe results provide support for the behavioral profile approach to conceptualizing social orientation and cognitive style, highlighting the need to assess intraindividual stability of psychological constructs in cross‐cultural research.Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/162694/2/jopy12536_am.pdfhttp://deepblue.lib.umich.edu/bitstream/2027.42/162694/1/jopy12536.pd

ENIGMA-anxiety working group: Rationale for and organization of large-scale neuroimaging studies of anxiety disorders

Anxiety disorders are highly prevalent and disabling but seem particularly tractable to investigation with translational neuroscience methodologies. Neuroimaging has informed our understanding of the neurobiology of anxiety disorders, but research has been limited by small sample sizes and low statistical power, as well as heterogenous imaging methodology. The ENIGMA‐Anxiety Working Group has brought together researchers from around the world, in a harmonized and coordinated effort to address these challenges and generate more robust and reproducible findings. This paper elaborates on the concepts and methods informing the work of the working group to date, and describes the initial approach of the four subgroups studying generalized anxiety disorder, panic disorder, social anxiety disorder, and specific phobia. At present, the ENIGMA‐Anxiety database contains information about more than 100 unique samples, from 16 countries and 59 institutes. Future directions include examining additional imaging modalities, integrating imaging and genetic data, and collaborating with other ENIGMA working groups. The ENIGMA consortium creates synergy at the intersection of global mental health and clinical neuroscience, and the ENIGMA‐Anxiety Working Group extends the promise of this approach to neuroimaging research on anxiety disorders

Deregulation of the telomerase reverse transcriptase (TERT) gene by chromosomal translocations in B-cell malignancies

Sequence variants at the TERT-CLPTM1L locus in chromosome 5p have been recently associated with disposition for various cancers. Here we show that this locus including the gene encoding the telomerase reverse-transcriptase TERT at 5p13.33 is rarely but recurrently targeted by somatic chromosomal translocations to IGH and non-IG loci in B-cell neoplasms, including acute lymphoblastic leukemia, chronic lymphocytic leukemia, mantle cell lymphoma and splenic marginal zone lymphoma. In addition, cases with genomic amplification of TERT locus were identified. Tumors bearing chromosomal aberrations involving TERT showed higher TERT transcriptional expression and increased telomerase activity. These data suggest that deregulation of TERT gene by chromosomal abnormalities leading to increased telomerase activity might contribute to B-cell lymphomagenesis

Morris dancers, matriarchs and paperbacks:Doing the village in contemporary Britain

To call a place rural is to categorize it as a particular kind of place and, often, to presume that particular kinds of being innately occur there. Over the past 20 years, however, trends in British rural studies have problematized easy ascription; this article is an ethnographic contribution within those trends. If it is no longer adequate to read the rural as a container for being, then, as I contend here, rurality can be explored anew through doing. I draw upon David Matless’s (1994) frame of ‘doing the village’ representationally, and amplify it to include concepts of place as representational and relational. I thus use ‘doing’ to read the multiple ways in which diverse residents in a Northern England village engage with both their real locality and with nationally shared rural imaginings