Prevalence and nonrandom distribution of exonic mutations in interferon regulatory factor 6 in 307 families with Van der Woude syndrome and 37 families with popliteal pterygium syndrome

Purpose: Interferon regulatory factor 6 encodes a member of the IRF family of transcription factors. Mutations in interferon regulatory factor 6 cause Van der Woude and popliteal pterygium syndrome, two related orofacial clefting disorders. Here, we compared and contrasted the frequency and distribution of exonic Mutations in interferon regulatory factor 6 between two large geographically distinct collections of families with Van der Woude and between one collection of families with popliteal pterygium syndrome. Methods: We performed direct sequence analysis of interferon regulatory factor 6 exons oil samples from three collections, two with Van der Woude and one with popliteal pterygium syndrome. Results: We identified mutations in interferon regulatory factor 6 exons in 68% of families in both Van der Woude collections and in 97% of families with popliteal pterygium syndrome. In sum, 106 novel disease-causing variants were found. The distribution of mutations in the interferon regulatory factor 6 exons in each collection was not random; exons 3, 4, 7, and 9 accounted for 80%. In the Van der Woude collections, the mutations were evenly divided between protein truncation and missense, whereas most mutations identified in the popliteal pterygium syndrome collection were missense. Further, the missense mutations associated with popliteal pterygium syndrome were localized significantly to exon 4, at residues that are predicted to bind directly to DNA. Conclusion: The nonrandom distribution of mutations in the interferon regulatory factor 6 exons suggests a two-tier approach for efficient mutation screens for interferon regulatory factor 6. The type and distribution of mutations are consistent with the hypothesis that Van der Woude is caused by haploinsufficiency of interferon regulatory factor 6. Oil the other hand, the distribution of popliteal pterygium syndrome-associated mutations suggests a different, though not mutually exclusive, effect oil interferon regulatory factor 6 function. Genet Med 2009:11(4):241-247.

Diagnostisering av elever i geometri : En studie med utgångspunkt i van Hieles teori

Detta är en studie som har sin utgångspunkt i Pierre M. van Hieles teori om lärande i geometri, som presenterades 1986 i boken Structure and Insight. Van Hiele har i boken vidareutvecklat sin och Dina van Hiele-Geldofs ursprungliga lärandeteori från 1955. Vår studie har som syfte att se om van Hieles teori går att tillämpa i en individuell, skriftlig diagnos för att nivåbestämma elever i årskurs 1 på gymnasiet.

The Place of Writing in the Poetry of W. B. Yeats and Patrick Kavanagh

Abstract This article addresses the theme of place in the poetry of W. B. Yeats and Patrick Kavanagh, focusing on the concept of place as a physical and psychological entity. The article explores place as a creative force in the work of these two poets, in relation to the act of writing. Seamus Heaney, in his essay “The Sense of Place,” talks about the “history of our sensibilities” that looks to the stable element of the land for continuity: “We are dwellers, we are namers, we are lovers, we make homes and search for our histories” (Heaney 1980: 148-9). Thus, in a physical sense, place is understood as a site in which identity is located and defined, but in a metaphysical sense, place is also an imaginative space that maps the landscapes of the mind. This article compares the different ways in which Yeats and Kavanagh relate to their place of writing, physically and artistically, where place is understood as a physical lived space, and as a liberating site for an exploration of poetic voice, where the poet creates his own country of the mind.

The place of writing in the poetry of W.B Yeats and Patrick Kavanagh

This article addresses the theme of place in the poetry of W. B. Yeats and Patrick Kavanagh, focusing on the concept of place as a physical and psychological entity. The article explores place as a creative force in the work of these two poets, in relation to the act of writing. Seamus Heaney, in his essay “The Sense of Place,” talks about the “history of our sensibilities” that looks to the stable element of the land for continuity: “We are dwellers, we are namers, we are lovers, we make homes and search for our histories” (Heaney 1980: 148-9). Thus, in a physical sense, place is understood as a site in which identity is located and defined, but in a metaphysical sense, place is also an imaginative space that maps the landscapes of the mind. This article compares the different ways in which Yeats and Kavanagh relate to their place of writing, physically and artistically, where place is understood as a physical lived space, and as a liberating site for an exploration of poetic voice, where the poet creates his own country of the mind.

RE Patrick & the rights and responsibilities of sperm donor fathers in Australian family law

In the matter of Re Patrick, Guest J of the Family Court of Australia held that a sperm donor, known to the lesbian mother of the child, had a right under Australian law to regular contact with the child to the extent that this was in the child's best interests. However, his Honour also held that due to the way in which particular provisions of the Family Law Act 1975 (Cth) are drafted, a sperm donor cannot be regarded as the "parent" of the child, and accordingly called for legislative reform to recognise the rights of known sperm donors wanting involvement with the child. In this article, the authors will first explore the facts and decision in Re Patrick, and then outline a proposal to amend the Family Law Act 1975 so that sperm donors can apply for an order to be a 'parent' under the Act.

Family law in Australia: re Patrick and the matter of Child A

In Re Patrick, Guest J of the Family Court of Australia dealt with the issue of whether a gay sperm donor, known to the lesbian mother of the child, had a right under Australian law to regular contact with the child. Justice Guest held that the sperm donor was allowed contact with the child to the extent that this was in the child's best interests. His Honour did, however, find that due to the way in which particular provisions of Australia's Family Law Act 1975 (Cth) are drafted, a sperm donor cannot be regarded as the 'parent' of the child, and accordingly called for legislative reform to recognise the rights of known sperm donors wanting involvement with the child. In this article, we discuss the matter of Re Patrick, comparing it with the strikingly similar matter of Pursuer Against Defender in the Case of Child A, decided recently by Sheriff Laura Duncan in the Glasgow Sheriff Court. We will then outline a proposal to amend the Family Law Act 1975 so that sperm donors can apply for an order to be a 'parent' for the purposes of the law, and therefore have the same rights and responsibilities as any other parent. In response to the tragic ending to the matter of Re Patrick, we conclude by stressing the need for an educational programme to be established, so that lesbian women who are considering parenthood may do so in the knowledge that the sperm donor does have the status of 'father', and in some jurisdictions 'parent', rather than merely being a 'donor'.

The execution of Van Nguyen: an Australian perspective

The execution of 25-year-old Melbourne man, Van Nguyen, by Singaporean authorities on 2 December 2005 for attempting to smuggle 400 grams of heroin out of Singapore was cruel. It was also futile. Yet, there are three important lessons that can be learned from his killing. The first lesson is that if Australia is to exert genuine moral pressure on nations to abolish the death penalty it must do so in a principled manner, rather than making expedient pleas when Australians happen to be on the wrong end of the cruel practice. Secondly, sentencing practice in Australia, while not condoning capital punishment, is unjustifiably punitive and we should ameliorate the harshness of some of our sentencing laws. Finally, the death of Nguyen, while tragic, was no more tragic than the millions of other preventable deaths that occur daily throughout the world. The compassion displayed toward Nguyen should be used as a catalyst for enlarging our sympathy gland in relation to all preventable deaths. I now discuss these in further detail.

Defuturing an architecture of destruction: a reconciliation of Van Berkel and Bos to the new design philosophy of Tony Fry

For some time now Tony Fry has promoted the idea of 'The Sustainment', an idea that asserts a paradigm shift in attitudes to consumption. 'The Sustainment' recognises that increasingly human futures are products of self-determination and not chance. Fry’s hypothesis can be understood through his concept of Defuturing, a philosophy that questions the role of design and the responsibility of designers to facilitating the ability to sustain (Fry 1999).
Central to Fry’s philosophy is an awareness that it is in the best interests of designers and their clients, as inhabitants of cultures increasingly driven by technology, to be aware of the relationships between the products and theories of design and the processes and implications of technological change. This is an awareness that is central to the concepts, work, and methodologies of the ‘UN Studio’ of Van Berkel and Bos described and elaborated upon in Move – Imagination, Techniques, and Effects (Van Berkel & Bos 1999). Here, Ben Van Berkel defines the parameters and methodologies employed by UN Studio in an environment of technological and socio-economic change. The Dutch practice could be said to exemplify something of a zeitgeist in current architectural design that sees architects, as Van Berkel and Bos view them, as “fashion designers of the future, dressing events to come and holding up a mirror to the world (Van Berkel & Bos 1999, back cover).” It is a zeitgeist that Fry might see as aligned to the resilient hype of ‘new creativity’, ‘globalisation’ the ‘romance with technology’, and the vacuous-ness of the world of fashion. (Fry The Voice of Sustainment: on Design Intelligence 2005).
A source of breaking down such design propaganda is identified by Fry in the notion of ‘scenarios,’ which “provide a mechanism for politico-practice assemblage in which dialogues and narratives of change can be rehearsed in ways that enable participants to re-educate themselves via critical confrontations” (Fry The Voice of Sustainment: on Design Intelligence 2005). From such a perspective this paper aims to practically illustrate and ground the Defuturing of Fry by establishing a dialogue between his writings and the theories that have generated the architectural designs of Van Berkel and Bos and there UN Studio. This will be a ‘scenario’ that examines therefore an appropriation and transformation of the applied intellectual practice of Van Berkel and Bos. Through this confrontation we shall explore the question of why sustainability appears to be so low in the agenda of many pre-eminent contemporary architects, and how we might refocus therefore practice and theory on the ability to sustain.

Molecular recognition of DNA by rigid [n]-polynorbornane-derived bifunctional intercalators: synthesis and evaluation of their binding properties

We have exploited the concept of multivalency in the context of DNA recognition, using novel chemistry to synthesize a new type of bis-intercalator with unusual sequence-selectivity. Bis-intercalation has been observed previously, but design principles for de novo construction of such molecules are not known. Our compounds feature two aromatic moieties projecting from a rigid, polynorbornane-based scaffold. The length and character of the backbone as well as the identity of the intercalators were varied, resulting in mono- or divalent recognition of the double helix with varying affinity. Our lead compound proved to be a moderately sequence-selective bis-intercalator with an unwinding angle of 27 and a binding constant of about 8 M. 9-Aminoacridine rings were preferred over acridine carboxamides or naphthalimides, and a rigid [3]-polynorbornane scaffold was superior to a [5]-polynorbornane. The flexibility of the linker connecting the rings to the scaffold, although less influential, could affect the strength and character of the DNA binding.