2026
article
OpenAlex
Conor Rowntree, Gemma Fernihough, Sarah S. Long, Mohammad Al-Shinnag et autres
ABSTRACT Objective Prenatal exome sequencing (pES) is increasingly to standard care for diagnosing the etiology of fetal structural anomalies (FSA). We evaluated trio pES outcomes in the national multicentre, prospectively recruited Australian Government‐funded cohort, including diagnostic yield, frequency of variants of uncertain …
au, sa
(code pays fourni par la source)
Accès ouvert
2026
article
OpenAlex
DEBORAH J. SCHOFIELD, Joshua Kraindler, Rupendra N. Shrestha, Owen Tan et autres
OBJECTIVES: To estimate the health and societal costs and health-related quality of life (HRQoL) impacts of X-linked retinitis pigmentosa (XLRP) caused by RPGR. METHODS: Primary data were obtained from a clinical cohort of 9 patients with X-linked retinitis pigmentosa (XLRP) and 4 …
au
(code pays fourni par la source)
Accès ouvert
2026
article
OpenAlex
Carol M. Y. Lee, Rupendra N. Shrestha, Julian Gold, Mark Stevenson et autres
OBJECTIVES: To analyse longitudinal change in motor neuron disease (MND) mortality in Australia from 1986 to 2023. DESIGN: Australian population-based study of MND mortality. SETTING: All MND mortality and Australian population data from 1 January 1986 to 31 December 2023 were obtained …
au
(code pays fourni par la source)
Accès ouvert
2025
article
OpenAlex
DEBORAH J. SCHOFIELD, Joshua Kraindler, Katherine K. Lim, Owen Tan et autres
BACKGROUND: Mitochondrial diseases are a group of rare, chronic disorders with a significant disease burden; however, there is limited knowledge about their effects on the health-related quality of life (HRQoL) of patients and their carers. This study estimates HRQoL among adult patients …
au
(code pays fourni par la source)
Accès ouvert
2025
article
OpenAlex
Anonnya Rizwana Chowdhury, DEBORAH J. SCHOFIELD, Rupendra N. Shrestha, Michael K. Nicholas
Introduction: Active day patient treatment (ADAPT) is an interdisciplinary, multimodal pain management program for patients with disabling chronic pain at the Pain Management & Research Centre (PMRC), Royal North Shore Hospital in Sydney, Australia. Objective: The aim of this study was to …
au
(code pays fourni par la source)
Accès ouvert
2025
article
OpenAlex
DEBORAH J. SCHOFIELD, Katherine K. Lim, Owen Tan, Rupendra N. Shrestha et autres
OBJECTIVES: To estimate the burden of mitochondrial disease by measurement of healthcare, societal, and lifetime costs of mitochondrial disease. METHODS: We recruited patients aged 18 years or over with a clinical confirmation of mitochondrial disease and their carer from a mitochondrial disease …
au
(code pays fourni par la source)
Accès ouvert
2025
article
OpenAlex
DEBORAH J. SCHOFIELD, Evelyn Lee, Jayamala Parmar, Adriana C. Castelo Taboada et autres
Using the Australian Census survey 2021 as base population, a microsimulation model, PreconMOD was developed to evaluate the cost-effectiveness of population-based expanded reproductive carrier screening (RCS) for 569 recessive conditions from the health service and societal perspectives. The model simulated the effect …
au
(code pays fourni par la source)
Accès ouvert
2024
article
OpenAlex
Petra L. Graham, DEBORAH J. SCHOFIELD, Robert J. Tait, Sarita Bista et autres
BACKGROUND: Higher educational attainment is important for economic wellbeing and associated with better health and longevity. Previous research focused on intelligence, socioeconomic status and mental health or individual risk behaviours as predictors of educational attainment, but the role of multiple domains of …
au
(code pays fourni par la source)
Accès ouvert
2024
article
OpenAlex
Christopher EL Owens, Owen Tan, Joice Kuroiwa‐Trzmielina, Rupendra N. Shrestha et autres
Embedding precision medicine in paediatric oncology shows promise to have a positive impact on how children with cancer will be treated in the future. While there are a number of studies of precision medicine in childhood cancer, there is limited evidence available …
au
(code pays fourni par la source)
Accès ouvert
2024
article
OpenAlex
Sameen Haque, Karen Crawley, DEBORAH J. SCHOFIELD, Rupendra N. Shrestha et autres
BACKGROUND: Cascade testing can offer improved surveillance and timely introduction of clinical management for the at-risk biological relatives. Data on cascade testing and costs in mitochondrial diseases are lacking. To address this gap, we performed a cross-sectional retrospective study to provide a …
au
(code pays fourni par la source)
Accès ouvert
2024
article
OpenAlex
Sameen Haque, Karen Crawley, DEBORAH J. SCHOFIELD, Rupendra N. Shrestha et autres
Background: Mitochondrial diseases often follow a chronic, multimorbid disease course in adults. Like other chronic conditions, mitochondrial diseases present a challenge to public and community health models and patients are potentially at higher risk of social isolation and loneliness. However, there is …
au
(code pays fourni par la source)
Accès ouvert
2024
article
OpenAlex
Sameen Haque, Karen Crawley, Ryan L. Davis, DEBORAH J. SCHOFIELD et autres
Background Mitochondrial diseases in adults are generally chronic conditions with a wide spectrum of severity contributing to disease burden and healthcare resource utilisation. Data on healthcare resource utilisation in mitochondrial diseases are limited. Objectives We performed a retrospective longitudinal study to investigate …
au
(code pays fourni par la source)