Objective: The development of decision models to assess interventions for rare diseases require huge efforts from research groups, especially regarding collecting and synthesizing the knowledge to parameterize the model. This article presents a method to reuse the knowledge collected in an ontology to automatically generate decision tree models for different contexts and interventions.
Material And Methods: We updated the reference ontology (RaDiOS) to include more knowledge required to generate a model. We implemented a transformation tool (RaDiOS-MTT) that uses the knowledge stored in RaDiOS to automatically generate decision trees for the economic assessment of interventions on rare diseases.
Results: We used a case study to illustrate the potential of the tool, and automatically generate a decision tree that reproduces an actual study on newborn screening for profound biotinidase deficiency.
Conclusions: RaDiOS-MTT allows research groups to reuse the evidence collected, and thus speeding up the development of health economics assessments for interventions on rare diseases.
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http://dx.doi.org/10.1016/j.jbi.2020.103563 | DOI Listing |
Port J Card Thorac Vasc Surg
January 2025
Department of Cardiovascular & Thoracic Surgery, U. N. Mehta Institute of Cardiology and Research Center, Civil Hospital Campus, Asarwa, Ahmedabad, Gujarat, India.
Background: ASD is a relatively rare subset among patients with situs inversus dextrocardia with concordant AV connection and a minimally invasive approach in dextrocardia has yet to be standardized. The present case describes a case surgical closure of ostium secundum ASD by left mini-thoracotomy approach in patient with dextrocardia and situs inversus.
Case Presentation: The present case describes a 44-year female patient of ostium secundum ASD in dextrocardia with situs inversus.
Port J Card Thorac Vasc Surg
January 2025
Thoracic surgeon, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milano, Italy.
The use of extracorporeal membrane oxygenation (ECMO) in surgery is expanding as the medical community started adopting it, with good results, for procedures with high risk of respiratory and hemodynamic instability. This technique provided the possibility to reduce the number of patients previously considered inoperable because of these limitations. Thymic epithelial tumors (TETs) are rare neoplastic mediastinal lesions, with a reported incidence of 0.
View Article and Find Full Text PDFChin Med J (Engl)
January 2025
Department of Obstetrics and Gynecology, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences, National Clinical Research Center for Obstetric & Gynecologic Diseases, Beijing 100730, China.
Background: Fibrosis of the connective tissue in the vaginal wall predominates in pelvic organ prolapse (POP), which is characterized by excessive fibroblast-to-myofibroblast differentiation and abnormal deposition of the extracellular matrix (ECM). Our study aimed to investigate the effect of ECM stiffness on vaginal fibroblasts and to explore the role of methyltransferase 3 (METTL3) in the development of POP.
Methods: Polyacrylamide hydrogels were applied to create an ECM microenvironment with variable stiffness to evaluate the effects of ECM stiffness on the proliferation, differentiation, and expression of ECM components in vaginal fibroblasts.
Orphanet J Rare Dis
January 2025
Department of Pediatric Gastroenterology and Nutrition, Amsterdam UMC, Emma Children's Hospital, Vrije Universiteit, Amsterdam, The Netherlands.
Background: Achalasia is a rare esophageal motility disorder with an estimated annual incidence of 1-5/100.000 and a mean age at diagnosis > 50 years of age. Only a fraction of the patients has an onset during childhood (estimated incidence of 0.
View Article and Find Full Text PDFBMC Infect Dis
January 2025
Department of Respiratory Medicine, Faculty of Medicine, Hokkaido University, North 15 West 7, Kita-ku, Sapporo, 060-8638, Japan.
Background: Mycobacterium avium complex (MAC) is a common pathogen causing non-tuberculous mycobacterial infections, primarily affecting the lungs. Disseminated MAC disease occurs mainly in immunocompromised individuals, such as those with acquired immunodeficiency syndrome, hematological malignancies, or those positive for anti-interferon-γ antibodies. However, its occurrence in solid organ transplant recipients is uncommon.
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