Very small deletions within the NESP55 gene in pseudohypoparathyroidism type 1b

Pseudohypoparathyroidism (PHP) is caused by reduced expression of genes within the GNAS cluster, resulting in parathormone resistance. The cluster contains multiple imprinted transcripts, including the stimulatory G protein α subunit (Gs-α) and NESP55 transcript preferentially expressed from the maternal allele, and the paternally expressed XLas, A/B and antisense transcripts. PHP1b can be caused by loss of imprinting affecting GNAS A/B alone (associated with STX16 deletion), or the entire GNAS cluster (associated with deletions of NESP55 in a minority of cases). We performed targeted genomic next-generation sequencing (NGS) of the GNAS cluster to seek variants and indels underlying PHP1b. Seven patients were sequenced by hybridisation-based capture and fourteen more by long-range PCR and transposon-mediated insertion and sequencing. A bioinformatic pipeline was developed for variant and indel detection. In one family with two affected siblings, and in a second family with a single affected individual, we detected maternally inherited deletions of 40 and 33 bp, respectively, within the deletion previously reported in rare families with PHP1b. All three affected individuals presented with atypically severe PHP1b; interestingly, the unaffected mother in one family had the detected deletion on her maternally inherited allele. Targeted NGS can reveal sequence changes undetectable by current diagnostic methods. Identification of genetic mutations underlying epigenetic changes can facilitate accurate diagnosis and counselling, and potentially highlight genetic elements critical for normal imprint settin

Consciousness and Cosmos: Building an Ontological Framework

Contemporary theories of consciousness are based on widely different concepts of its nature, most or all of which probably embody aspects of the truth about it. Starting with a concept of consciousness indicated by the phrase “the feeling of what happens” (the title of a book by Antonio Damásio), we attempt to build a framework capable of supporting and resolving divergent views. We picture consciousness in terms of Reality experiencing itself from the perspective of cognitive agents. Each conscious experience is regarded as composed of momentary feeling events that are combined by recognition and evaluation into extended conscious episodes that bind cognitive contents with a wide range of apparent durations (0.1 secs to 2 or more secs, for us humans, depending on circumstances and context). Three necessary conditions for the existence of consciousness are identified: a) a ground of Reality, envisaged as an universal field of potentiality encompassing all possible manifestations, whether material or 'mental'; b) a transitional zone, leading to; c) a manifest world with its fundamental divisions into material, 'informational' and quale-endowed aspects. We explore ideas about the nature of these necessary conditions, how they may relate to one another and whether our suggestions have empirical implications

From Mother to Sister: The Development in the Understanding of Mission in the Life and Writings of St Thérèse of Lisieux and its Contemporary Relevance

This dissertation analyses the development in the understanding of mission in the life and writings of St Thérèse of Lisieux and considers its contemporary significance. The thesis is that Thérèse progressed from a ‘mother missiology’ to a ‘sister missiology.’ This missiological evolution is intrinsically united to Thérèse’s transcendence of the faith-categories of her era. Initially, with her Catholic contemporaries, Thérèse regarded it as her duty to ‘mother’ unbelievers into divine life. This ‘mother missiology’ gradually became ‘sister missiology’ as two movements of grace, namely the emergence of the ‘little way’ and Thérèse’s intensifying union with Jesus, the kenotic Christ, took Thérèse beyond her era’s vision of faith. The paradigm of ‘sister missiology’ has an entwined dual dynamic: radical solidarity with unbelievers and radical receptivity to the gratuitous outpouring of God’s love. Sister missiology is demonstrated to be a potentially vital enabler of the Church’s missionary agenda in the twenty-first century. It is able to facilitate the realisation of the missionary objectives of the Second Vatican Council and offers a road-map for the Church’s engagement with postmodernity. A dissertation submitted in partial fulfilment of the requirements for the degree of Master of Theology from the University of Notre Dame, Australia, 2006

Measurement-induced two-qubit entanglement in a bad cavity: Fundamental and practical considerations

An entanglement-generating protocol is described for two qubits coupled to a cavity field in the bad-cavity limit. By measuring the amplitude of a field transmitted through the cavity, an entangled spin-singlet state can be established probabilistically. Both fundamental limitations and practical measurement schemes are discussed, and the influence of dissipative processes and inhomogeneities in the qubits are analyzed. The measurement-based protocol provides criteria for selecting states with an infidelity scaling linearly with the qubit-decoherence rate.Comment: 13 pages, 7 figures, submitted to Phys. Rev.

Entering the Heart of Experience: First Person Accounts in Performance & Spirituality

In this paper, Middleton and Chamberlain introduce the inaugural publication of "Perspectives on Practice," which will be a new and ongiong section in "Performance and Spirituality" that will publish academically rigorous, first-person accounts of intersections between performance and spirituality. In this article, the authors take up arguments for the development of a rigorous first-person methodology for consciousness research and apply them to the study of performance and spirituality. They outline the implications of adopting and including the first person perspective in performance research, and then explore its applicability to the particular case of the enquiry into relationships between performance and spirituality. They argue that the promotion of rigorous and contextualised first-person accounts can provide this field of study with significant data; high-quality descriptions of what Varela and Shear called “The View from Within.” Such descriptions could provide detailed insights into, for example, the nature of the performative phenomena which yield spiritual experience. Further, we shall explore the extent to which the adoption of the first-person mode of enquiry can increase, as well as illuminate, the experience in question

Sterile neutrinos in neutrinoless double beta decay

We study possible contribution of the Majorana neutrino mass eigenstate $\nu_h$ dominated by a sterile neutrino component to neutrinoless double beta ($0\nu\beta\beta$) decay. From the current experimental lower bound on the $0\nu\beta\beta$-decay half-life of $^{76}$Ge we derive stringent constraints on the $\nu_h-\nu_e$ mixing in a wide region of the values of $\nu_h$ mass. We discuss cosmological and astrophysical status of $\nu_h$ in this mass region.Comment: 6 pages, 1 figure; v2 added comments and reference

‘And yet, what would we be without memory?’ Visualizing memory in two Canadian graphic texts

Since “we live in a culture of confession” (Gilmore 2001: 2; Rak 2005: 2) a rapidly growing popularity of various forms of life writing seems understandable. The question of memory is usually an important part of the majority of autobiographical texts. Taking into account both the popularity of life writing genres and their recent proliferation, it is interesting to see how the question “what would we be without memory?” (Sebald 1998 [1995]: 255) resonates within more experimental auto/biographical texts such as a graphic memoir/novel I Was a Child of Holocaust Survivors (2006) by Bernice Eisenstein and a volume of illustrated poetry and a biographical elegy published together as Correspondences (2013) by Anne Michaels and Bernice Eisenstein. These two experimental works, though representing disparate forms of writing, offer new stances on visualization of memory and correspondences between text and visual image. The aim of this paper is to analyze the ways in which the two authors discuss memory as a fluid concept yet, at the same time, one having its strong, ghostly presence. The discussion will also focus on the interplay between memory and postmemory as well as correspondences between the texts and the equally important visual forms accompanying them such as drawings, portraits, sketches, and the bookbinding itself.This work was partially supported by the Polish National Science Centre (Narodowe Centrum Nauki) under Grant UMO–2012/05/B/HS2/0400

To respond or not to respond - a personal perspective of intestinal tolerance

For many years, the intestine was one of the poor relations of the immunology world, being a realm inhabited mostly by specialists and those interested in unusual phenomena. However, this has changed dramatically in recent years with the realization of how important the microbiota is in shaping immune function throughout the body, and almost every major immunology institution now includes the intestine as an area of interest. One of the most important aspects of the intestinal immune system is how it discriminates carefully between harmless and harmful antigens, in particular, its ability to generate active tolerance to materials such as commensal bacteria and food proteins. This phenomenon has been recognized for more than 100 years, and it is essential for preventing inflammatory disease in the intestine, but its basis remains enigmatic. Here, I discuss the progress that has been made in understanding oral tolerance during my 40 years in the field and highlight the topics that will be the focus of future research