Introduction Kidney stone disease is a global health issue, with a well-known high recurrence rate after a first stone episode. Metabolic screening is a cost-effective tool for identifying patients at risk of recurrence due to a secondary disease. Our study aimed to assess compliance in a District General Hospital (DGH) and lay out a framework for the implementation of an electronic request bundle to improve screening levels in line with National Institute for Health and Care Excellence (NICE) guidelines. Methods A retrospective, cross-sectional study was conducted on 67 eligible patients, presenting with nephrolithiasis between May 2023 and July 2023. The percentage undergoing metabolic screening on admission was recorded and compared against previous Trust data. Clinical staff were surveyed to develop a streamlined electronic bundle, which was then implemented across the Trust collaboratively with Unity EPR engineers and senior clinical and non-clinical management. Results Thirty (47.8%) eligible patients had serum calcium levels measured on admission, and 25 (37.3%) patients had serum urate measured - similar screening levels to that collected during previous audits in the same Trust. Of the 30 surveyed staff, 12 (40.0%) reported they would routinely check serum urate and 15 (50.0%) serum calcium in renal stone presentations. In total, eight months of stakeholder meetings were required to effectively develop and deploy a new electronic requesting bundle, aiming to increase metabolic screening levels at the Trust. Discussion Adherence to NICE guidelines in renal stone patients at this DGH was significantly below the recommended standards of care. Identifying intervention points, surveying staff, and working with key stakeholders allowed for the integration of a metabolic screening tool. This study provides an effective framework for the development and sustainable implementation of an electronic requesting bundle, which can be modeled healthcare-wide.
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http://dx.doi.org/10.7759/cureus.73448 | DOI Listing |
Orphanet J Rare Dis
January 2025
Department of Diabetes, Endocrinology and Metabolism, University Hospitals Birmingham NHS Foundation Trust, Queen Elizabeth Hospital, Birmingham, B15 2TH, UK.
Background: Alström syndrome (AS) is a recessively inherited genetic condition which is ultra-rare and extremely complex. Symptoms include retinal dystrophy, nystagmus, photophobia, hearing loss, obesity, insulin resistance, diabetes and cardiomyopathy. The condition is progressive, but it is important to note that not all the complications associated with AS occur in everyone affected.
View Article and Find Full Text PDFOrphanet J Rare Dis
January 2025
Division of Pediatric Epileptology, Department of Pediatrics I, Medical Faculty of Heidelberg, Heidelberg University, Heidelberg, Germany.
Background: Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disorder affecting multiple organ systems, with a prevalence of 1:6,760-1:13,520 live births in Germany. On the molecular level, TSC is caused by heterozygous loss-of-function variants in either of the genes TSC1 or TSC2, encoding the Tuberin-Hamartin complex, which acts as a critical upstream suppressor of the mammalian target of rapamycin (mTOR), a key signaling pathway controlling cellular growth and metabolism. Despite the therapeutic success of mTOR inhibition in treating TSC-associated manifestations, studies with mTOR inhibitors in children with TSC above two years of age have failed to demonstrate beneficial effects on disease-related neuropsychological deficits.
View Article and Find Full Text PDFBMC Public Health
January 2025
Vocational School of Health Services, Medical Services and Techniques Department, First and Emergency Aid Programme, Bayburt University, Bayburt, 69000, Turkey.
Aim: Identifying the risks of metabolic syndrome (MetS) can lead to early targeted interventions and thus contribute to improved quality of life by reducing the risk of developing MetS, diabetes or heart disease in the future. We aimed to develop a valid and reliable measurement tool to measure the MetS risk of the population.
Materials And Methods: In the methodological study, an item pool was created by reviewing the literature.
BMC Infect Dis
January 2025
Department of Infectious Diseases, School of Medicine, Iranian Research Center for HIV/AIDS, Iranian Institute for Reduction of High Risk Behaviors, Imam Khomeini Hospital Complex, Tehran University of Medical Sciences, Tehran, Iran.
Background: Reduced Bone Mineral Density (BMD) has been linked to Human Immunodeficiency Virus (HIV) infection and treatment. There is a lack of information regarding the osteoporosis status of middle-aged patients with HIV in Iran, despite the fact that Antiretroviral Therapy (ART) is widely accessible.
Objective: The purpose of this cross-sectional study was to assess the BMD status and low BMD risk factors in patients with HIV under ART living in Iran.
BMC Genomics
January 2025
Gansu Key Laboratory of Herbivorous Animal Biotechnology, College of Animal Science and Technology, Gansu Agricultural University, Lanzhou, 730070, China.
Wool growth and fineness regulation is influenced by some factors such as genetics and environment. At the same time, lncRNA participates in numerous biological processes in animal production. In this research, we conducted a thorough analysis and characterization of the microstructure of wool, along with long non-coding RNAs (lncRNAs), their target genes, associated pathways, and Gene Ontology terms pertinent to the wool fineness development.
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