25 research outputs found
Involvement of genes related to inflammation and cell cycle in Idiopathic Short Stature.
No full textIdiopathic Short Stature (ISS) defines a condition in which height is <-2SD compared to the mean of a reference population where systemic, endocrinological, nutritional or chromosomal disorders have not been identified and diagnosis is based on exclusion of any known causes of short stature. JAK/STAT pathway is triggered by GH binding to the GH receptor and promotes cellular growth through transcription of GH-responsive genes. In order to identify "candidate genes" differently expressed in ISS subjects with respect to control ones, we analyzed the expression of 84 genes related to JAK/STAT pathway by RT(2) Profiler PCR array approach in a total of 10 subjects. Then, we validated the observed data by Real Time PCR and ELISA assays in a major number of subjects. We found two genes that were differently expressed in ISS subjects with respect to the control group: CXCL9 and FCGR1A/CD64, both significantly up-regulated (fold change 2.17 and 1.70, respectively) and belonging to family of IFN-γ-inducible factors. Further, ISS subjects showed an increased gene expression of IFN-γ and IFI16, higher serum levels of IFN-γ but similar levels of CXCL9 when compared to healthy subjects. In addition, we showed a pubertal modulation of CXCL9 levels. These data suggest that inflammatory and regulatory factors of the cell cycle may be involved in the ISS condition, introducing a new perspective to its etiology
Isolated GHD: investigation and implication of JAK/STAT related genes before and after rhGH treatment.
No full textIsolated GH deficiency (IGHD) is a rare disorder that occurs as an idiopathic form in most cases. The pathway JAK/STAT promotes cellular growth and it could be implicated in this condition. In order to characterize IGHD in the pediatric population and identify genes differently expressed before and after GH therapy, we performed a quantitative evaluation of 84 genes related to the JAK/STAT pathway which, by promoting cellular growth. RT(2) Profiler PCR Array and the other/subsequent evaluations were performed in three children with severe IGHD before and after 6 months of GH therapy and in three matched normal children. Gene profiling was modified by the IGHD status and the GH therapy, with a modulation of GHR and some inflammatory genes such as CRP. We found a heterozygous nonsense mutation R43X in the GHR gene in two out of three IGHD subjects, despite a good response to therapy. After therapy cardiovascular markers linked to genes as IL6, IL8 and TNF-α displayed a trend toward reduction. Pre- and post therapy status differently affects gene expression. Mutational screening of GHR may be useful in investigating IGHD's etiology. Genes linked to inflammation suggest to evaluate cardiovascular risks also in pediatric IGHD subjects
The pilgrim's progress across time: Medievalism and modernity on the road to Santiago
No full textThis paper offers a reading of recent accounts of journeys on one of the great Christian pilgrimage routes, to Santiago de Compostela in north-west Spain. It focuses on the common narrative strategy of a disrupted sense of time expressed by the pilgrim-authors, and argues that this trope is intrinsic to texts that suggest that time has been ‘crossed’ and that the author has undertaken a ‘medieval’ experience. It is argued that this trope of crossing time is closely linked to two central themes of contemporary Santiago texts: the construction of the author as an authentic pilgrim, and the experience of forms of community that are outside the norm in the pilgrim's everyday life. These common themes in Santiago pilgrim narratives are said to be reflective of the authors’ distrust of modernity
Unacylated ghrelin and obestatin: promising biomarkers of protein energy wasting in children with chronic kidney disease
No full textBackground: Impairment in orexigenic/anorexigenic hormone balance may be key in the pathogenesis of protein energy wasting in children with chronic kidney disease (CKD). Measurement of ghrelin and obestatin concentrations in children with CKD would help assess the potential contribution of these hormones to uremic protein energy wasting. Methods: This was a cross-sectional caseâcontrol study. Acylated and unacylated ghrelin and obestatin were measured in 42 children on conservative treatment (CT), 20 children on hemodialysis, 48 pediatric renal transplant (RTx) recipients and 43 controls (CTR) (mean age 11.9, range 5â20 years). Weight, height and bicipital, tricipital, subscapular and suprailiac folds were measured, and the body mass index-standard deviation score (BMI-SDS), percentage of fat mass and fat-free mass were calculated. Urea and creatinine were measured and the glomerular filtration rate (GFR) calculated. Results: Unacylated ghrelin level was higher in patients than controls (p = 0.0001), with the highest levels found in hemodialysis patients (p = 0.001 vs. CKD-CT, p = 0.0001 vs. RTx, p < 0.0001 vs. CTR). Obestatin level was significantly higher in patients on hemodialysis than those on conservative treatment, RTx recipients and controls (p < 0.0001 in each case). Unacylated ghrelin negatively correlated with weight-SDS (p < 0.0001), BMI-SDS (p = 0.0005) and percentage fat mass (p = 0.004) and positively correlated with percentage fat-free mass (p = 0.004). Obestatin concentration negatively correlated with weight-SDS (p = 0.007). Unacylated ghrelin and obestatin concentrations positively correlated with creatinine and urea and inversely with eGFR, even after adjustments for gender, age, puberty and BMI-SDS (p < 0.0001 for each model). Conclusions: Unacylated ghrelin and obestatin, negatively related to renal function, seem to be promising inverse indicators of nutritional status in children with CKD. Potential therapeutic implications in terms of optimization of their removal in patients on hemodialysis could be hypothesized
Australian education journals: quantitative and qualitative indicators
No full textThe attached document may provide the author's accepted version of a published work. See Citation for details of the published work.
The global reception of post-national literary fiction: the case of Gerald Murnane
No full textThis paper considers the situation of the changing global market for Australian literary fiction. In particular it uses the case of Gerld Murnane to examine ways in which these changes might be beneficial to at least some authors as we enter an era of 'post-national' literary fiction.The paper traces the international reception of Murnane's fiction and the subsequently the development of his global reputation. It incorporates Murnane's own observations (drawn from personal correspondence with the author) and suggests that although it has been argued that the impacts of globalisation will be detrimental for Australian literary fiction, there may also be some reasons for optimism
Desperately Seeking Suzanne: Photographs in Suzanne Chick's Adoptee-narrative Searching for Charmian
No full textIn 1994, Suzanne Chick published Searching for Charmian, an adoptee autobiography that relates Chick's discovery of her birth-mother's identity. Chick had been aware from a young age that she was adopted, but only discovered in middle age that her birth-mother was well-known Australian author and journalist, Charmian Clift.Unlike the reconciliation trajectory that many adoption autobiographies take, a physical reunion between Clift and Chick was impossible as Clift committed suicide in 1969. In the absence of any prospect of physical reunion, Searching for Charmian relies upon other narrative structures. Resemblance as a marker of familial relationship becomes the text's organising principle, one that is thrown into relief with the numerous photographs Chick encounters in the course of her search, and a number of which are reproduced in the text. Significantly, the photographs of Clift are not only, or merely, the person they represent; Chick's narrative insists on the specific context of her adoption in order to create and read these photographs anew. The photographs are integral components of the life-narrative that turns around the importance of resemblance and difference in establishing this adoptee's identity. They are also potent markers of the ways in which visual media can transform ideas of family, of social relations and of the self
Institutional repositories in New Zealand: comparing institutional strategies for digital preservation and discovery
No full textThis paper outlines an ongoing project to create of a knowledge base to support the development of institutional repositories in New Zealand. The knowledge base wiki includes a summary of key literature to date, highlighting best practice, and standards relevant to the New Zealand sector, and a set of case studies of how New Zealand institutions have developed their repositories to date. These case studies are analysed, and different strategic approaches taken by institutions across the sector identified. These will then be discussed in relation to the issues identified in the literature. The paper also outlines new research areas being developed by the research team, a national approach that will link individual institutional approaches with the goals of the New Zealand Digital Strategy, and incorporate a survey of the perceptions and responses of NZ academics, and other key stakeholders, that are critical to the success of both the national strategy and individual institutional initiatives
Institutional repositories: review and an information systems perspective
No full textPurpose: To review the current literature and discussion on institutional repository (IR) and open access (OA) issues, to provide examples from the Information Systems (IS) literature, and to propose the use of IS literature and further research to inform understanding of institutional repository implementations for library managers.
Methodology/Approach: Recent literature is reviewed to provide the background to, and current issues in, the development of institutional repositories to support open access to refereed research output.
Practical implications: Existing research is identified, as are areas for potential research.
Brief examples from IS literature are provided which may provide strategies for libraries and other organisations to speed up their implementation of IR to provide access to, and management of, their own institutions refereed research output.
Value of paper: The paper brings together recent opinion and research on IR and OA to provide librarians and other information managers with a review of the field, and proposes research on IR and OA building on existing IS as well as information management and librarianship research
Isolated GHD: investigation and implication of JAK/STAT related genes before and after rhGH treatment
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