41 research outputs found

    New and old in Matthew 11-13 : normativity in the development of three theological themes.

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    SIGLEAvailable from British Library Document Supply Centre-DSC:DXN026380 / BLDSC - British Library Document Supply CentreGBUnited Kingdo

    Duplication of intrachromosomal insertion segments 4q32→q35 confirmed by comparative genomic hybridization and fluorescent in situ hybridization

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    A 35-year-old man with infertility was referred for chromosomal analysis. In routine cytogenetic analysis, the patient was seen to have additional material of unknown origin on the terminal region of the short arm of chromosome 4. To determine the origin of the unknown material, we carried out high-resolution banding, comparative genomic hybridization (CGH), and FISH. CGH showed a gain of signal on the region of 4q32→q35. FISH using whole chromosome painting and subtelomeric region probes for chromosome 4 confirmed the aberrant chromosome as an intrachromosomal insertion duplication of 4q32→q35. Duplication often leads to some phenotypic abnormalities; however, our patient showed an almost normal phenotype except for congenital dysfunction in spermatogenesis

    Mosaicism for combined tetrasomy of chromosomes 8 and 18 in a dysmorphic child: A result of failed tetraploidy correction?

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    <p>Abstract</p> <p>Background</p> <p>Mosaic whole-chromosome tetrasomy has not previously been described as a cause of fetal malformations.</p> <p>Case presentation</p> <p>In a markedly dysmorphic child with heart malformations and developmental delay, CGH analysis of newborn blood DNA suggested a 50% dose increase of chromosomes 8 and 18, despite a normal standard karyotype investigation. Subsequent FISH analysis revealed leukocytes with four chromosomes 8 and four chromosomes 18. The child's phenotype had resemblance to both mosaic trisomy 8 and mosaic trisomy 18. The double tetrasomy was caused by mitotic malsegregation of all four chromatids of both chromosome pairs. A possible origin of such an error is incomplete correction of a tetraploid state resulting from failed cytokinesis or mitotic slippage during early embryonic development.</p> <p>Conclusion</p> <p>This unique case suggests that embryonic cells may have a mechanism for tetraploidy correction that involves mitotic pairing of homologous chromosomes.</p

    Implication of long-distance regulation of the HOXA cluster in a patient with postaxial polydactyly

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    Apparently balanced chromosomal inversions may lead to disruption of developmentally important genes at the breakpoints of the inversion, causing congenital malformations. Characterization of such inversions may therefore lead to new insights in human development. Here, we report on a de novo inversion of chromosome 7 (p15.2q36.3) in a patient with postaxial polysyndactyly. The breakpoints do not disrupt likely candidate genes for the limb phenotype observed in the patient. However, on the p-arm the breakpoint separates the HOXA cluster from a gene desert containing several conserved noncoding elements, suggesting that a disruption of a cis-regulatory circuit of the HOXA cluster could be the underlying cause of the phenotype in this patient

    Promoting community renewable energy in a corporate energy world.

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    Small-scale, decentralized and community-owned renewable energy is widely acknowledged to be a desirable feature of low carbon futures, but faces a range of challenges in the context of conventional, centralized energy systems. This paper draws on transition frameworks to investigate why the UK has been an inhospitable context for community-owned renewables and assesses whether anything fundamental is changing in this regard. We give particular attention to whether political devolution, the creation of elected governments for Scotland, Wales and Northern Ireland, has affected the trajectory of community renewables. Our analysis notes that devolution has increased political attention to community renewables, including new policy targets and support schemes. However, these initiatives are arguably less important than the persistence of key features of socio-technical regimes: market support systems for renewable energy and land-use planning arrangements that systemically favour major projects and large corporations, and keep community renewables to the margins. There is scope for rolling out hybrid pathways to community renewables, via joint ownership or through community benefit funds, but this still positions community energy as an adjunct to energy pathways dominated by large, corporate generation facilities

    Educating ‘the new Norwegian we’: an examination of national and cosmopolitan education policy discourses in the context of extremism and Islamophobia

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    Across Europe there are growing concerns about Islamophobia and far-right and anti-democratic movements. Until Anders Behring Breivik’s July 2011 attacks in which 77 died, Norway’s vulnerability was not perceived as great as that of other jurisdictions. Breivik declared his abhorrence of multiculturalism but also drew the world’s attention to intolerance and xenophobia in Europe, increasingly directed towards Muslims. In response, Prime Minister Stoltenberg spoke widely of ‘the new Norwegian we’, cautioning against exclusionary discourses and underlining that minorities are an equal part of Norwegian society. This paper examines education policy in the context both of extreme right political activity and national and international debates about nationalism and cosmopolitanism, considering ways in which policy supports an inclusive notion of nationhood, and ways in which it promotes an exclusive model of national identity. Drawing on framing questions from the International Association for the Evaluation of Educational Achievement’s 1995 civic education study, relating to national identity and social cohesion, it examines how programmes address social cohesion, human rights, cultural diversity, and conceptualise minorities. It assesses the effectiveness of cross-curricular approaches to contribute to justice and equality and challenge racism in a multicultural society, proposing an inclusive model of education for cosmopolitan citizenship, which incorporates diversity
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