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Partial duplication of the CRYBB1-CRYBA4 locus is associated with autosomal dominant congenital cataract
This author accepted manuscript is made available following 6 month embargo from date of publication (March 2017) in accordance with the publisher’s copyright policyCongenital cataract is a rare but severe paediatric visual impediment, often caused by variants in one of several crystallin genes that produce the bulk of structural proteins in the lens. Here we describe a pedigree with autosomal dominant isolated congenital cataract and linkage to the crystallin gene cluster on chromosome 22. No rare single nucleotide variants or short indels were identified by exome sequencing, yet copy number variant analysis revealed a duplication spanning both CRYBB1 and CRYBA4. While the CRYBA4 duplication was complete, the CRYBB1 duplication was not, with the duplicated CRYBB1 product predicted to create a gain of function allele. This association suggests a new genetic mechanism for the development of isolated congenital cataract
Editor's letter and contents page, November 2017, Volume 10 no. 1.
Editor's letter and contents page, November 2017, Volume 10 no. 1 of Transnational Literatur
Review of Inside Australian Culture: Legacies of Enlightenment Values by Baden Offord et al.
Review of Inside Australian Culture: Legacies of Enlightenment Values by Baden Offord et al
Review of Australia: A German Traveller in the Age of Gold by Friedrich Gerstäcker, edited by Peter Monteath
Review of Australia: A German Traveller in the Age of Gold by Friedrich Gerstäcker, edited by Peter Monteat
Review of Finding Queensland in Australian Cinema: Poetics and Screen Geographies by Allison Craven
Review of Finding Queensland in Australian Cinema: Poetics and Screen Geographies by Allison Crave
Review of Economy, Emotion and Ethics in Chinese Cinema: Globalization on Speed by David Leiwei Li.
Review of Economy, Emotion and Ethics in Chinese Cinema: Globalization on Speed by David Leiwei Li
Medication-related costs of rhinitis in Australia: a NostraData cross-sectional study of pharmacy purchases
This work is published and licensed by Dove Medical Press Limited. The full terms of this license are available at https://www.dovepress.com/terms.php and incorporate the Creative Commons Attribution – Non Commercial (unported, v3.0) License (http://creativecommons.org/licenses/by-nc/3.0/). By accessing the work you hereby accept the Terms. Non-commercial uses of the work are permitted without any further permission from Dove Medical Press Limited, provided the work is properly attributed. For permission for commercial use of this work, please see paragraphs 4.2 and 5 of our Terms (https://www.dovepress.com/terms.php).Purpose: There is a relative paucity of research regarding medication expenditure associated with multiple-therapy use for rhinitis in Australia. To describe 1) the nature and extent of multiple-therapy use for rhinitis in Australia using data on therapies purchased with prescription or over-the-counter (OTC) and 2) additional costs incurred by multiple-therapy use compared with intranasal corticosteroid (INCS) therapy alone.
Patients and methods: A retrospective observational study was carried out using a database containing anonymous pharmacy transaction data available from 20% of pharmacies in Australia that links doctor prescriptions and OTC purchase information. Pharmacy purchases of at least one prescription or OTC rhinitis treatment, with or without additional asthma/chronic obstructive pulmonary disease (COPD) therapy, by patients during 2013 and 2014 were assessed.
Results: In total, 4,247,193 prescription and OTC rhinitis treatments were purchased from 909 pharmacies over 24 months. The majority of rhinitis therapy transactions were single-therapy purchases without additional asthma/COPD therapy. Of the single therapies purchased, 73% were oral antihistamines (OAHs) and 15% were INCS therapy. Dual-therapy purchases of INCSs and OAHs accounted for 40% of multiple-therapy purchases. Patients frequently purchased OAHs, nonsteroidal nasal sprays, and eye drops for allergic conjunctivitis alongside INCSs, resulting in higher financial costs (up to AU$21 per treatment episode) compared with INCS monotherapy.
Conclusion: This study highlighted the significant burden posed on community pharmacy to address the needs of people with rhinitis symptoms, and the failure to translate the evidence that INCSs are the most effective monotherapy for moderate to severe and/or persistent rhinitis into clinical practice in light of the lack of evidence supporting combination of INCS and OAH therapy. Health care professional engagement, especially at the pharmacy level, will be extremely important if we wish to ensure that the purchase of rhinitis treatment is in accordance with guidelines and that their use is optimal
Evaluating the ac.care Generic Homelessness Service programs in Mt Gambier: (Limestone Coast Homelessness Service) Final report
The research based evaluation of the programs provided by the ac.care Limestone Coast Generic Homelessness Service programs is presented here. This report is divided into five sections. The first section presents the background information on the ac.care Limestone Coast Generic Homelessness Service initiative including: the aims of the program, an outline of the services provided, demographic area, definitions of homelessness, and the aims of the program. The second section provides the outline of some of the theoretical basis for the models of care and the therapeutic models of care that are common in all the programs provided. Subsequent sections provide the therapeutic models of care specific to the particular program provided by the organisation or service. The result section outlines the key sources of data and the analysis findings. The report also provides a conclusion for each program and a final conclusion for the evaluation research project as a whole