ORCID Profile
0000-0002-5571-2203
Current Organisation
University of Adelaide
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Publisher: Wiley
Date: 2019
DOI: 10.1002/JIMD.12027
Abstract: The objective of this research was to determine the effectiveness of enzyme replacement therapy for juvenile-onset Pompe disease (patients aged 2 to 18 years at symptom onset) by systematic review. A systematic search was conducted according to a protocol designed a priori of bibliographic databases and search engines. Studies selected according to pre-specified criteria were assessed for quality and risk of bias using standardised appraisal tools. Data were reported according to PRISMA conventions (Liberati et al. in PLoS Med 6:e1000100, 2009) and synthesised using GRADE (Guyatt et al. in J Clin Epidemiol 64:380-382, 2011). Of 2537 titles screened, 1 case series and 16 case reports met the inclusion criteria. No studies reported on the impact of enzyme replacement therapy on the survival of juvenile-onset patients. Low level evidence found that respiratory function may improve or be maintained in the early months of therapy. Improved muscle function in the first 6 to 12 months was also suggested, but results may be confounded by natural development. Patients with less severe baseline status and treated at a younger age showed more response than patients with more severe baseline status, treated as adults. Interpretation of the findings was hindered by the lack of good quality evidence. The available data suggests that some JOPD patients may benefit in the short term from ERT through improved muscle strength and a reduced need for assisted ventilation. A focus by clinicians on improved and more consistent evidence collection, and use of study designs tailored to rare conditions, would provide more definitive results.
Publisher: Elsevier BV
Date: 2008
DOI: 10.1016/J.CUB.2007.11.050
Abstract: The mitotic microtubule array plays two primary roles in cell ision. It acts as a scaffold for the congression and separation of chromosomes, and it specifies and maintains the contractile-ring position. The current model for initiation of Drosophila and mammalian cytokinesis [1-5] postulates that equatorial localization of a RhoGEF (Pbl/Ect2) by a microtubule-associated motor protein complex creates a band of activated RhoA [6], which subsequently recruits contractile-ring components such as actin, myosin, and Anillin [1-3]. Equatorial microtubules are essential for continued constriction, but how they interact with the contractile apparatus is unknown. Here, we report the first direct molecular link between the microtubule spindle and the actomyosin contractile ring. We find that the spindle-associated component, RacGAP50C, which specifies the site of cleavage [1-5], interacts directly with Anillin, an actin and myosin binding protein found in the contractile ring [7-10]. Both proteins depend on this interaction for their localization. In the absence of Anillin, the spindle-associated RacGAP loses its association with the equatorial cortex, and cytokinesis fails. These results account for the long-observed dependence of cytokinesis on the continual presence of microtubules at the cortex.
Publisher: Elsevier BV
Date: 08-2011
Publisher: Cambridge University Press (CUP)
Date: 2022
DOI: 10.1017/S0266462322000575
Abstract: We highlight non-health-related impacts associated with genetic testing (GT) and knowing one’s genetic status so that health technology assessment (HTA) analysts and HTA audiences may more appropriately consider the pros and cons of GT. Whereas health-related impacts of GT (e.g., increased healthy behaviors and avoidance of harms of unnecessary treatment) are frequently assessed in HTA, some non-health-related impacts are less often considered and are more difficult to measure. This presents a challenge for accurately assessing whether a genetic test should be funded. In health systems where HTA understandably places emphasis on measurable clinical outcomes, there is a risk of creating a GT culture that is pro-testing without sufficient recognition of the burdens of GT. There is also a risk of not funding a genetic test that provides little clinical benefit but nonetheless may be seen by some as autonomy enhancing. The recent development of expanded HTA frameworks that include ethics analyses helps to address this gap in the evidence and bring awareness to non-health-related impacts of GT. The HTA analyst should be aware of these impacts, choose appropriate frameworks for assessing genetic tests, and use methods for evaluating impacts. A new reporting tool presented here may assist in such evaluations.
No related grants have been discovered for Joanne Milverton.