ORCID Profile
0000-0002-3118-9673
Current Organisations
British University in Egypt
,
NSW Health
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Publisher: Inderscience Publishers
Date: 2013
Publisher: Springer Science and Business Media LLC
Date: 20-01-2022
Publisher: Center for Open Science
Date: 14-08-2023
Abstract: Objective: To assess the extent to which the literature clarifies key characteristics, components or factors related to feasible and sustainable integrated rare disease care delivery. Along the continuum of care, in general practice settings in Organisations for Economic Cooperation Development (OECD) countries. Introduction: “Rare” by definition, but collectively common, rare diseases have a 3.5-5.9% global prevalence. Internationally, navigating complex health systems is echoed as a challenge, regardless of diagnosis. General practice is best situated to lead integrated rare disease care. Yet, little is known about how integrated rare disease care is currently organised and delivered. Nor how it’s provision can be feasibly achieved and sustained.Inclusion Criteria: Contemporary literature discussing models of integrated rare disease care delivery relating to all aspects of care, in the general practice setting in OEDC countries will be included. Literature discussing acute, episodic care or chronic disease management without rarity will be excluded.Methods: Academic literature, with an empirical component, from CINAHL, PubMed, EMBASE and Scopus will be sought. Grey literature will be sought. Inclusion criteria refinement via Covidence and EndNote, will be followed by the application of a pre-developed data extraction instrument and presented in narrative synthesis, tables and/or diagrams.
Publisher: Springer Science and Business Media LLC
Date: 09-09-2022
DOI: 10.1186/S13023-022-02508-1
Abstract: Children’s interstitial and diffuse lung disease (chILD) is a complex heterogeneous group of lung disorders. Gene panel approaches have a reported diagnostic yield of ~ 12%. No data currently exist using trio exome sequencing as the standard diagnostic modality. We assessed the diagnostic utility of using trio exome sequencing in chILD. We prospectively enrolled children meeting specified clinical criteria between 2016 and 2020 from 16 Australian hospitals. Exome sequencing was performed with analysis of an initial gene panel followed by trio exome analysis. A subset of critically ill infants underwent ultra-rapid trio exome sequencing as first-line test. 36 patients [median (range) age 0.34 years (0.02–11.46) 11F] were recruited from multiple States and Territories. Five patients had clinically significant likely pathogenic athogenic variants ( RARB, RPL15, CTCF, RFXANK, TBX4 ) and one patient had a variant of uncertain significance ( VIP ) suspected to contribute to their clinical phenotype, with VIP being a novel gene candidate. Trio exomes (6/36 16.7%) had a better diagnostic rate than gene panel (1/36 2.8%), due to the ability to consider a broader range of underlying conditions. However, the aetiology of chILD in most cases remained undetermined, likely reflecting the interplay between low penetrant genetic and environmental factors.
Publisher: Wiley
Date: 10-03-2023
DOI: 10.1002/PPUL.26377
Abstract: Addressing the recognized challenges and inequalities in providing high quality healthcare for rare diseases such as children's interstitial lung disease (chILD) requires collaboration across institutional, geographical, discipline, and system boundaries. The Children's Interstitial Lung Disease Respiratory Network of Australia and New Zealand (chILDRANZ) is an ex le of a clinical network that brings together multidisciplinary health professionals for collaboration, peer learning, and advocacy with the goal of improving the diagnosis and management of this group of rare and ultra‐rare conditions. This narrative review explores the multifaceted benefits arising from social learning spaces within rare disease clinical networks by applying the value creation framework. The operation of the chILDRANZ network is used as an ex le across the framework to highlight how value is generated, realized, and transferred within such collaborative clinical and research networks. The community of practice formed in the chILDRANZ multidisciplinary meetings provides a strong ex le of social learning that engages with the uncertainty inherent in rare disease diagnosis and management and pays attention to generate new knowledge and best practice to make a difference for children and families living with chILD. This review underscores international calls for further investment in, and support of, collaborative clinical networks and virtual centers of excellence for rare disease.
No related grants have been discovered for Nada Vidic.