Background Rare diseases (RDs) are often complex, serious, chronic and multi-systemic conditions, associated with physical, sensory and intellectual disability. Patients require follow-up management from multiple medical specialists and health and social care professionals involving a high level of integrated care, service coordination and specified care pathways. Methods and objectives This pilot study aimed to explore the best approach for developing national RD care pathways in the Irish healthcare system in the context of a lack of agreed methodology. Irish clinical specialists and patient/lived experience experts were asked to map existing practice against evidence-based clinical practice guidelines (CPGs) and best practice recommendations from the European Reference Networks (ERNs) to develop optimal care pathways. The study focused on the more prevalent, multisystemic rare conditions that require multidisciplinary care, services, supports and therapeutic interventions. Results 29 rare conditions were selected across 18 ERNs, for care pathway development. Multidisciplinary input from multiple specialisms was relevant for all pathways. A high level of engagement was experienced from clinical leads and patient organisations. CPGs were identified for 26 of the conditions. Nurse specialist, Psychology, Medical Social Work and Database Manager roles were deemed essential for all care pathways. Access to the therapeutic Health Service Professionals: Physiotherapy, Occupational Therapy, and Speech and Language Therapy were seen as key requirements for holistic care. Genetic counselling was highlighted as a core discipline in 27 pathways demonstrating the importance of access to Clinical Genetics services for many people with RDs. Conclusions This study proposes a methodology for Irish RD care pathway development, in collaboration with patient/service user advocates. Common RD patient needs and health care professional interventions across all pathways were identified. Key RD stakeholders have endorsed this national care pathway initiative. Future research focused on the implementation of such care pathways is a priority.
This article is review of the role of single photon emission tomography (SPECT) in the diagnosis and management of Alzheimer's disease (AD).It begins by describing AD in terms of diagnosis, pathology and current pharmacological treatment. The relevance of the pathological changes in relation to SPECT is outlined. This is discussed in terms of receptor abnormalities and atrophic changes which in turn effect cerebral blood flow.A detailed description of SPECT methodology describes how the quality of the image is effected by SPECT instrumentation, image reconstruction techniques and a number of subject factors.The article goes on to discuss the role SPECT in the diagnosis of AD and its potential for facilitating early diagnosis. The main focus here is on the changes which occur in cerebral blood flow in AD and the sensitivity and specificity of regional changes in cerebral blood flow is described.Image analysis is an area in which there has been many developments in the last number of years and the authors describe the differences between qualitative and quantitative image analysis, with a particular focus on statistical parametric mapping (SPM).There is a brief discussion concerning receptor ligands and their potential use in the diagnosis and management of AD, although this remains an undeveloped area in SPECT imaging as yet.Finally, the authors discuss the future possibilities for SPECT and AD, and conclude that there is considerable potential for SPECT in the diagnosis and management of AD with further refinement of image analysis techniques and the development of cholinergic receptor ligands.
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.
customersupport@researchsolutions.com
10624 S. Eastern Ave., Ste. A-614
Henderson, NV 89052, USA
Copyright © 2024 scite LLC. All rights reserved.
Made with 💙 for researchers
Part of the Research Solutions Family.