Search results for "LTC"
showing 5 items of 5 documents
Professional stakeholders' views of the use of digital technologies in Spanish long-term care
2018
Demographic change in Europe has resulted in an aging population, which presents new challenges for implementing and managing long-term care (LTC) systems. One solution aims to increase the efficiency of LTC by using digital technologies. This article focuses on professionals’ opinions of the use of digital technologies in the administration of Spain’s long-term care law (Law 39/2006, December 14, LAPAD). This qualitative research is part of SoCaTel, an H2020 project on the co-creation of LTC services in Europe. Ten focus groups were held with health professionals, care-taking relatives, and care workers, and six semistructured in-depth interviews were conducted with care recipients in Cata…
Molecular and clinical studies in five index cases with novel mutations in the GLA gene
2016
Fabry disease is a metabolic and lysosomal storage disorder caused by the functional defect of the α-galactosidase A enzyme; this defect is due to mutations in the GLA gene, that is composed of seven exons and is located on the long arm of the X-chromosome (Xq21–22). The enzymatic deficit is responsible for the accumulation of glycosphingolipids in lysosomes of different cellular types, mainly in those ones of vascular endothelium. It consequently causes a cellular and microvascular dysfunction. In this paper, we described five novel mutations in the GLA gene, related to absent enzymatic activity and typical manifestations of Fabry disease. We identified three mutations (c.846_847delTC, p.E…
Benign multicystic mesothelioma: A case report of recurrent disease in a young adult with familiarity for renal cell carcinoma
2019
Benign multi-cystic peritoneal mesothelioma (BMCM) is a very rare disease (about 150 cases observed). The aetiology is currently little-known, and the data collected, without having achieved conclusive re sults, identify two possible causes: neoplastic and reactive inflammatory. This case report refers to a recidivism of BCMC in a patient whose brother, few months before, underwent a left nephrectomy and right renal Radio Frequency Termo Ablation (RFTA) for bilateral papillary renal cell carcinoma. For the recurring trend, the onset in a male young patient without chronic inflammatory diseases evidence, the presence of a first degree relative with a rare carcinoma we supposed a neoplastic a…
Whole exome sequencing and system biology analysis support the "two-hit" mechanism in the onset of Ameloblastoma
2021
Background Ameloblastoma is the most frequent odontogenic tumor. Various evidence has highlighted the role of somatic mutations, including recurrent mutation BRAF V600E, in the tumorigenesis of Ameloblastoma, but the intact genetic pathology remains unknown. Material and Methods We sequenced the whole exome of both tumor tissue and healthy bone tissue from four mandibular ameloblastoma patients. The identified somatic mutations were integrated into Weighted Gene Co-expression Network Analysis on publicly available expression data of odontoblast, ameloblast, and Ameloblastoma. Results We identified a total of 70 rare and severe somatic mutations. We found BRAF V600E on all four patients, sup…
Value Co-Creation Opportunities: Managerial Transformation of Digitisation Risks into Success Factors
2018
This chapter examines the challenges and risks managers in the healthcare sector perceive in relation to the development and implementation of digitised services in a healthcare case organisation. Using data collected from managers, focus group interviews and observation method within the case organisation, the authors present an analysis that demonstrates that the risks and success factors that influence the development and implementation of digital healthcare services are related to (1) setting a clear digital strategy and implementation plan, (2) integration of digital services with the overall process and ICT, (3) committed resources and engagement of personnel, and (4) the organisation…