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Genotypic and phenotypic characterisation of RP2- and RPGR-associated X-linked inherited retinal dystrophy, including female manifestations.
Clin Exp Ophthalmol
June 2023
Department of Ophthalmology, Faculty of Medical and Health Sciences, New Zealand National Eye Centre, University of Auckland, Auckland, New Zealand.
Article Synopsis
- The study aimed to identify eligible individuals for gene replacement therapy in patients with X-linked inherited retinal dystrophy (XL-IRD) in New Zealand.
- It involved analyzing 32 probands and 72 family members through comprehensive medical tests to detail the genetic mutations and their associated symptoms.
- Findings revealed a significant presence of disease in female carriers, frequent novel pathogenic variants, and a higher occurrence of mutations in a specific gene region, informing better gene testing and clinical care strategies.
On what basis are medical cost-effectiveness thresholds set? Clashing opinions and an absence of data: a systematic review.
Glob Health Action
October 2018
a Department of Public Health and Clinical Medicine , Umeå University, Umeå , Sweden.
Background: The amount a government should be willing to invest in adopting new medical treatments has long been under debate. With many countries using formal cost-effectiveness (C/E) thresholds when examining potential new treatments and ever-growing medical costs, accurately setting the level of a C/E threshold can be essential for an efficient healthcare system.
Objectives: The aim of this systematic review is to describe the prominent approaches to setting a C/E threshold, compile available national-level C/E threshold data and willingness-to-pay (WTP) data, and to discern whether associations exist between these values, gross domestic product (GDP) and health-adjusted life expectancy (HALE).
Developing understanding of object fall: Going beyond inhibitory processes.
Br J Dev Psychol
September 2017
Faculty of Education, University of Cambridge, UK.
A study is reported where 118 participants aged between 10 years and early 20s drew the trajectories they expected objects to follow as they fell. The younger participants typically anticipated backward trajectories during fall from moving carriers while forward but non-parabolic trajectories were relatively more frequent amongst the older participants. Both patterns suggest strong sociocultural influences, with implications for models that regard development in this area as purely the inhibition of principles established in infancy.
View Article and Find Full Text PDFHealth professional feedback on HPV vaccination roll-out in a developing country.
Vaccine
April 2017
School of Natural Sciences and Psychology, Faculty of Science, Liverpool John Moores University, Byrom Street, Liverpool L3 3AF, United Kingdom. Electronic address:
Background: Worldwide, Zambia has the highest cervical cancer incidence rates (58.4/100,000 per year) and mortality rates (36.2/100,000 per year).
View Article and Find Full Text PDFOxygen therapy: time to move on?
Ther Adv Respir Dis
December 2014
Senior Lecturer, Faculty of Health and Social Care, Edge Hill University, St Helens Rd, Ormskirk, Lancashire L39 4QP, UK
This analysis examines the roots of clinical practice regarding oxygen therapy and finds that some aspects have changed very little over the past 200 years. Oxygen is commonly prescribed and administered as a therapy across all healthcare settings, particularly for the treatment and management of respiratory conditions, both acute and chronic. Yet despite its widespread use and recent advances in understanding and guidance, poor practice and controversies regarding its use persist.
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