Publications by authors named "Joanne Milverton"
Article Synopsis
- Exome and genome sequencing can help identify genetic reasons for unexplained congenital anomalies and perinatal deaths, but it's not commonly used as a standard practice.
- A review of 32 studies involving over 2,100 cases showed that about 25-33% of fetal losses related to these issues may have identifiable genetic causes through sequencing, but there was a lack of systematic studies on test accuracy and familial outcomes.
- The research highlights a significant gap in validating testing accuracy and assessing the clinical impact on families after genetic investigations in cases of fetal anomalies and perinatal death.
Neglected impacts of patient decision-making associated with genetic testing.
Int J Technol Assess Health Care
October 2022
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 impacts of GT (e.g.
View Article and Find Full Text PDFAim: 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.
Methods: 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.
Aims: Serum cobalamin (cbl, vitamin B(12)) tests are routinely ordered for investigating conditions potentially amenable to cbl supplementation. This study aimed to systematically assess the evidence of diagnostic accuracy for serum cbl tests across patient subgroups.
Methods: Seven medical databases were searched (1990 to November 2009).
The mitotic microtubule array plays two primary roles in cell division. 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].
View Article and Find Full Text PDF