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A relational approach to co-create Advance Care Planning with and for people living with dementia: a narrative study.
BMC Palliat Care
January 2025
School of Medicine, University of Dundee, Dundee, UK.
Background: Discussing Advance Care Planning (ACP) with people living with dementia (PwD) is challenging due to topic sensitivity, fluctuating mental capacity and symptom of forgetfulness. Given communication difficulties, the preferences and expectations expressed in any ACP may reflect family and healthcare professional perspectives rather than the PwD. Starting discussions early in the disease trajectory may avoid this, but many PwD may not be ready at this point for such discussions.
View Article and Find Full Text PDFExploring the role of splicing in TP53 variant pathogenicity through predictions and minigene assays.
Hum Genomics
January 2025
Population Health Program, QIMR Berghofer Medical Research Institute, Herston, QLD, 4006, Australia.
Background: TP53 variant classification benefits from the availability of large-scale functional data for missense variants generated using cDNA-based assays. However, absence of comprehensive splicing assay data for TP53 confounds the classification of the subset of predicted missense and synonymous variants that are also predicted to alter splicing. Our study aimed to generate and apply splicing assay data for a prioritised group of 59 TP53 predicted missense or synonymous variants that are also predicted to affect splicing by either SpliceAI or MaxEntScan.
View Article and Find Full Text PDFIs middle East pain syndrome (MEPS) a variant of fibromyalgia syndrome or a distinct disease?
BMC Rheumatol
January 2025
Rheumatology Department, Al-Azhar University Faculty of Medicine for Girls, 74 Ali Amin St, Nasr City, PO 11727, Cairo, Egypt.
Background: Fibromyalgia Syndrome (FMS) is a chronic disabling musculoskeletal condition of unknown aetiology characterized by generalized musculoskeletal pain, extreme fatigue, mood disturbance, impaired cognition, and lack of refreshing sleep. Middle East pain syndrome (MEPS) is a newly described pollution-induced syndrome of hyperparathyroidism and fibromyalgia mimicking rheumatoid arthritis, characterized by the radiological presence of spur-like excrescences in terminal phalanges. This study aimed to explore the inflammatory nature of Middle East pain and Fibromyalgia syndromes.
View Article and Find Full Text PDFPreparing Australian diabetes educators for practice: workforce perceptions of the credentialling pathway.
BMC Med Educ
January 2025
Curtin School of Population Health, Faculty of Health Sciences, Curtin University, Perth, Australia.
The Australian Credentialled Diabetes Educator (CDE) registered trademark signifies quality care and education to those with diabetes. A review of the Australian Diabetes Educators Association (ADEA) CDE pathway was undertaken to ensure the quality of the CDE credential. The purpose of this study was to examine perceptions of the diabetes education workforce on the current pathway for educating and qualifying CDEs for practice.
View Article and Find Full Text PDFRelationship between CTF1 gene expression and prognosis and tumor immune microenvironment in glioma.
Eur J Med Res
January 2025
Department of Neurosurgery, National Cancer Center/National Clinical Research Center for Cancer/Cancer Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, No 17 Panjiayuan Nanli, Chaoyang District, Beijing, 100021, People's Republic of China.
Objective: This study aimed to evaluate CTF1 expression in glioma, its relationship to patient prognosis and the tumor immune microenvironment, and effects on glioma phenotypes to identify a new therapeutic target for treating glioma precisely.
Methods: We initially assessed the expression of CTF1, a member of the IL-6 family, in glioma, using bioinformatics tools and publicly available databases. Furthermore, we examined the correlation between CTF1 expression and tumor prognosis, DNA methylation patterns, m6A-related genes, potential biological functions, the immune microenvironment, and genes associated with immune checkpoints.
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