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A novel de novo Myocilin variant in a patient with sporadic juvenile open angle glaucoma
No full textOpen Access This article is distributed under the terms of the Creative Commons Attribution 4.0
International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and
reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to
the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver
(http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.BACKGROUND:
Glaucoma is a leading cause of irreversible blindness. Pathogenic variants in the Myocilin gene (MYOC) cause juvenile open angle glaucoma (JOAG) in 8-36% of cases, and display an autosomal dominant inheritance with high penetrance. Molecular diagnosis is important for early identification as therapies are effective in minimizing vision loss and MYOC variants can be associated to severe glaucoma. MYOC variants are usually inherited, however a fifth of carriers do not report a family history. The occurrence of de novo MYOC variants is currently unknown.
CASE PRESENTATION:
In this study we investigated a 14 year old male Caucasian patient diagnosed with JOAG, and no family history of glaucoma. A novel probably deleterious MYOC:p.(Pro254Leu) variant was identified in the index case. This variant was not present in the parents or the siblings.
CONCLUSION:
This is the second report of a de novo MYOC variant in a sporadic case of JOAG and it is currently unknown if this mechanism occurs more frequently. This finding emphasizes the importance of screening individuals with JOAG for MYOC mutations irrespective of a negative family history
Effect of Health Literacy on Quality of Life amongst Patients with Ischaemic Heart Disease in Australian General Practice
No full textThis is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.Background
Appropriate understanding of health information by patients with cardiovascular disease (CVD) is fundamental for better management of risk factors and improved morbidity, which can also benefit their quality of life.
Objectives
To assess the relationship between health literacy and health-related quality of life (HRQoL) in patients with ischaemic heart disease (IHD), and to investigate the role of sociodemographic and clinical variables as possible confounders.
Methods
Cross-sectional study of patients with IHD recruited from a stratified sample of general practices in two Australian states (Queensland and South Australia) between 2007 and 2009. Health literacy was measured using a validated questionnaire and classified as inadequate, marginal, or adequate. Physical and mental components of HRQoL were assessed using the Medical Outcomes Study Short Form (SF12) questionnaire. Analyses were adjusted for confounders (sociodemographic variables, clinical history of IHD, number of CVD comorbidities,
and CVD risk factors) using multiple linear regression.
Results
A total sample of 587 patients with IHD (mean age 72.0±8.4 years) was evaluated: 76.8% males, 84.2%retired or pensioner, and 51.4% with up to secondary educational level.
Health literacy showed a mean of 39.6±6.7 points, with 14.3% (95%CI 11.8–17.3) classified as inadequate. Scores of the physical component of HRQoL were 39.6 (95%CI 37.1–42.1), 42.1 (95%CI 40.8–43.3) and 44.8 (95%CI 43.3–46.2) for inadequate, marginal, and adequate health literacy, respectively (p-value for trend = 0.001). This association persisted after adjustment for confounders. Health literacy was not associated with the mental component of HRQoL (p-value = 0.482). Advanced age, lower educational level, disadvantaged socioeconomic position, and a larger number of CVD comorbidities adversely affected both, health literacy and HRQoL.
Conclusion Inadequate health literacy is a contributing factor to poor physical functioning in patients with IHD. Increasing health literacy may improve HRQoL and reduce the impact of IHD among patients with this chronic CVD
Outcomes and patients’ perspectives of transition from paediatric to adult care in inflammatory bowel disease
No full textThis article is an open-access article which was
selected by an in-house editor and fully peer-reviewed by external
reviewers. It is distributed in accordance with the Creative
Commons Attribution Non Commercial (CC BY-NC 4.0) license,
which permits others to distribute, remix, adapt, build upon this
work non-commercially, and license their derivative works on
different terms, provided the original work is properly cited and
the use is non-commercial. See: http://creativecommons.org/
licenses/by-nc/4.0/AIM:
To describe the disease and psychosocial outcomes of an inflammatory bowel disease (IBD) transition cohort and their perspectives.
METHODS:
Patients with IBD, aged > 18 years, who had moved from paediatric to adult care within 10 years were identified through IBD databases at three tertiary hospitals. Participants were surveyed regarding demographic and disease specific data and their perspectives on the transition process. Survey response data were compared to contemporaneously recorded information in paediatric service case notes. Data were compared to a similar age cohort who had never received paediatric IBD care and therefore who had not undergone a transition process.
RESULTS:
There were 81 returned surveys from 46 transition and 35 non-transition patients. No statistically significant differences were found in disease burden, disease outcomes or adult roles and responsibilities between cohorts. Despite a high prevalence of mood disturbance (35%), there was a very low usage (5%) of psychological services in both cohorts. In the transition cohort, knowledge of their transition plan was reported by only 25/46 patients and the majority (54%) felt they were not strongly prepared. A high rate (78%) of discussion about work/study plans was recorded prior to transition, but a near complete absence of discussion regarding sex (8%), and other adult issues was recorded. Both cohorts agreed that their preferred method of future transition practices (of the options offered) was a shared clinic appointment with all key stakeholders.
CONCLUSION:
Transition did not appear to adversely affect disease or psychosocial outcomes. Current transition care processes could be optimised, with better psychosocial preparation and agreed transition plans
Artificial Water Point for Livestock Influences Spatial Ecology of a Native Lizard Species
No full textThis is an open access
article distributed under the terms of the Creative
Commons Attribution License, which permits
unrestricted use, distribution, and reproduction in any
medium, provided the original author and source are
credited.Pastoralism is a major agricultural activity in drier environments, and can directly and indirectly impact native species in those areas. We investigated how the supply of an artificial watering point to support grazing livestock affected movement and activity patterns of the Australian sleepy lizard (Tiliqua rugosa) during a drought year. We observed 23 adult lizards; six had access to a dam, whereas 17 lizards did not. Lizards with access to the dam had larger home ranges, were substantially active on more days (days with >100 steps), and moved more steps per day compared to lizards that did not have access to the dam, both during the early and late period of our observation. Furthermore, while the two groups of lizards had similar body condition early in the season, they differed later in the season. Lizards with dam access retained, whereas lizards without access lost body condition. Local heterogeneity in access to an artificial water resource resulted in spatially dependent behavioural variation among sleepy lizard individuals. This suggests that sleepy lizards have flexible responses to changing climatic conditions, depending on the availability of water. Furthermore, while reducing activity appears a suitable short term strategy, if harsh conditions persist, then access to dams could be of substantial benefit and could support sustained lizard activity and movement and allow maintenance of body condition. Hence, artificial watering points, such as the dams constructed by pastoralists, may provide local higher quality refugia for sleepy lizards and other species during drought conditions
Fission Yeast SCYL1/2 Homologue Ppk32: A Novel Regulator of TOR Signalling That Governs Survival during Brefeldin A Induced Stress to Protein Trafficking
No full textThis is an
open access article distributed under the terms of the
Creative Commons Attribution License, which permits
unrestricted use, distribution, and reproduction in any
medium, provided the original author and source are
credited.Target of Rapamycin (TOR) signalling allows eukaryotic cells to adjust cell growth in
response to changes in their nutritional and environmental context. The two distinct TOR
complexes (TORC1/2) localise to the cell’s internal membrane compartments; the endoplasmic
reticulum (ER), Golgi apparatus and lysosomes/vacuoles. Here, we show that
Ppk32, a SCYL family pseudo-kinase, is a novel regulator of TOR signalling. The absence
of ppk32 expression confers resistance to TOR inhibition. Ppk32 inhibition of TORC1 is critical
for cell survival following Brefeldin A (BFA) induced stress. Treatment of wild type cells
with either the TORC1 specific inhibitor rapamycin or the general TOR inhibitor Torin1 confirmed
that a reduction in TORC1 activity promoted recovery from BFA induced stress.
Phosphorylation of Ppk32 on two residues that are conserved within the SCYL pseudokinase
family are required for this TOR inhibition. Phosphorylation on these sites controls
Ppk32 protein levels and sensitivity to BFA. BFA induced ER stress does not account for
the response to BFA that we report here, however BFA is also known to induce Golgi stress
and impair traffic to lysosomes. In summary, Ppk32 reduce TOR signalling in response to
BFA induced stress to support cell survival
An Interview with Andreas Albrecht
No full textAndreas Albrecht was born in 1951 in Cottbus, and he grew up in the Deutsche Demokratische Republik (DDR), East Germany. He has written radio dramas, novels, short stories and poetry. In 1997 he was the recipient of the Munich Literature Prize, the Literaturstipendium. This interview was conducted in German and translated into English by the interviewer
An Interview with Jean-François Vernay
No full textThe second edition of Jean-François Vernay’s book A Brief Take on the Australian Novel (Adelaide: Wakefield Press) was released in 2016. This incisive history of Australian fiction is remarkable for a relatively young scholar, both for its ambitious scope and its innovative approach, employing structural techniques derived from the world and language of cinema. It is designed to appeal to the general reader seeking to test their views against Vernay’s, to those new to the area of Australian fiction who might use it as a guide to their reading, and to those engaged in academic study. As has often been noted, Jean-François Vernay’s French-Australian parentage and background give him an unusual and distinctive perspective on Australian writing. Jean-François is also the author of Water from the Moon: Illusion and Reality in the Works of Christopher Koch (New York: Cambria Press, 2007), as well as numerous other critical studies. His book The Seduction of Fiction: A Plea for Putting Emotions Back into Literary Interpretation will be released in August 2016 as part of Palgrave Macmillan’s series Studies in Affect Theory and Literary Criticism. He is also a creative writer in his own right, notably of Un doux petit rêveur (2012)
Finding what works: a resource for discovering interdisciplinary evidence-based information about stroke
Get PDFCopyright 2016. Flinders University Research Centre for Palliative Care, Death, and Dying. This work is copyright. It may be reproduced in whole or in part for research or training purposes subject to the inclusion of an acknowledgement of the source. It may not be reproduced for commercial use or sale. Reproduction for purposes other than those indicated above requires written permission from the Research Centre for Palliative Care, Death, and Dying.This White Paper/Research Report outlines a reliable and effective means by which stroke practitioners in all fields (including stroke rehabilitation) can gain access to evidence that is useable, timely and relevant. By providing single-click access to comprehensive, reliable, and effective topic searches, this resource enables clinicians and researchers to find the latest available interdisciplinary evidence about stroke. This has the potential to improve patient outcomes by equipping researchers and clinicians with high quality information that can be used to better inform research and more effectively guide treatment decisions.
Guided by an Expert Advisory Group (EAG), our research team developed a Stroke Search Filter. The Filter is a high-performance search that retrieves references for literature relevant to all topics on stroke. To ensure that the most recent references are retrieved, we translated the search filter for the PubMed database (from Ovid Medline) in order to ensure that non-indexed literature is also harvested. While the Filter itself can be used across all areas related to stroke, the focus of the Stroke Topic Searches resource is on topics post diagnosis of stroke, emphasising rehabilitation, physiotherapy, and occupational therapy. A search sensitivity rating of 93.8% in the Filter Validation Set and a precision of 83.06% were achieved
Stress Induced Hyperglycemia and the Subsequent Risk of Type 2 Diabetes in Survivors of Critical Illness
Get PDFThis is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.Objective
Stress induced hyperglycemia occurs in critically ill patients who have normal glucose tolerance following resolution of their acute illness. The objective was to evaluate the association between stress induced hyperglycemia and incident diabetes in survivors of critical illness.
Design
Retrospective cohort study.
Setting
All adult patients surviving admission to a public hospital intensive care unit (ICU) in South Australia between 2004 and 2011.
Patients
Stress induced hyperglycemia was defined as a blood glucose ≥ 11.1 mmol/L (200 mg/dL) within 24 hours of ICU admission. Prevalent diabetes was identified through ICD-10 coding or prior registration with the Australian National Diabetes Service Scheme (NDSS). Incident diabetes was identified as NDSS registration beyond 30 days after hospital discharge until July 2015. The predicted risk of developing diabetes was described as sub-hazard ratios using competing risk regression. Survival was assessed using Cox proportional hazards regression.
Main Results
Stress induced hyperglycemia was identified in 2,883 (17%) of 17,074 patients without diabetes. The incidence of type 2 diabetes following critical illness was 4.8% (821 of 17,074). The risk of diabetes in patients with stress induced hyperglycemia was approximately double that of those without (HR 1.91 (95% CI 1.62, 2.26), p<0.001) and was sustained regardless of age or severity of illness.
Conclusions
Stress induced hyperglycemia identifies patients at subsequent risk of incident diabetes
Teaching in Focus: The value of implementing a program-specific teaching support project for staff wellbeing and student success
Get PDFThis work is licensed under a Creative Commons Attribution 4.0 Licence. As an open access journal, articles are free to use, with proper attribution, in educational and other non-commercial settings.This paper reports on a program-level teaching support initiative that was implemented in a Health Sciences undergraduate degree with a large and highly casualised teaching team. It has been argued that to improve student retention and success, universities need to consider implementing comprehensive teaching support models that address institutional, program, and individual level needs. We report on the implementation of our project and reflect on participant feedback, which demonstrated the value of the program for improving staff wellbeing. We argue that introducing support strategies for staff at a local level is essential not only for delivery of high quality learning experiences, but also for staff wellbeing which, in turn, has important implications for student success and retention