ABSTRACT
Background: ß-thalassemia is an inherited blood disorder that affects the production of hemoglobin molecules owing to the reduction or absence of beta chains. Transfusion therapy has had a key role in extending the lifespan of ß-thalassemia patients. This life-saving therapy is linked to numerous assessments and complications that now comprise most thalassemia management considerations. Consequently, many patients do not receive adequate information about the required assessments, as indicated by evidence-based medical guidelines. Patients with ß-thalassemia may benefit from chatbots that follow up on their condition and that provide the required assessment information. Self-management will hopefully have a positive impact on health outcomes. Objectives: This study aims to develop a chatbot that can assist in the management of ß-thalassemia by providing the assessment information required to monitor patients' statuses. Methods: The chatbot operated as a messaging system. A question/answer system was created based on knowledge pertaining to ß-thalassemia assembled from experts, medical guidelines, and articles. Recommendations regarding the patient's follow-up assessment are made based on the answers. Results: A prototype was implemented to demonstrate how the chatbots could dynamically and flexibly provide the assessment information required to follow up on and monitor patients. A small sample of adults with ß-thalassemia used the chatbot to examine the system's usability and perceived utility. A system usability scale and utility scale were implemented to complete a post-test survey. The chatbots were considered by 34 patients, of whom the majority (72%) found them easy to use, while more than 90% of patients considered their use beneficial. Most of the participants agreed that the chatbots could improve their knowledge about their ß-thalassemia assessments. Conclusion: Our findings suggest that chatbots can be beneficial to the development of recommended tests and management related to the assessment of ß-thalassemia.
ABSTRACT
BACKGROUND: Tumor protein 53 (TP53) is a tumor-suppressor gene and plays an essential role in apoptosis, cell cycle arrest, genomic stability, and DNA repair. Although it is the most often mutated gene in human cancer, it has respectively low frequency in hematological malignancy but is significantly linked with complex karyotype, poor prognosis, and chemotherapeutic response. Nevertheless, the prevalence and prognostic role of TP53 mutations in hematological malignancy in Saudi patients are not well reported. We, therefore, aim to assess the frequency of TP53 mutations in hematological malignancies in Saudi Arabia. METHOD: 20 different hematological malignancy samples were tested using fluorescence in situ hybridization (FISH) technique for TP53 deletion detection and next-generation sequencing (NGS) targeted panel was applied on 10 samples for mutations identification specifically TP53 mutation. RESULTS: TP53 deletion was detected in 6 of 20 samples by FISH. Most of the 6 patients with TP53 deletion had acute lymphoblastic leukemia (ALL), and majority of them were child. NGS result revealed one heterozygous missense mutation in exon 5 of the TP53 gene (c. G9963A, p.H175R). CONCLUSION: To the best of our knowledge, the TP53 mutation is novel variant, and the first time we are reporting their association with myelodysplastic syndromic individual with complex karyotype. This study recommends further analysis of genomic mutations on bigger cohorts, utilizing high throughput technologies.
