Publications by authors named "S Bonanad"
Introduction: A comprehensive treatment for patients with haemophilia (PwH) should focus on how the disease interferes with their mental, emotional and social environment to analyse if all the therapeutic efforts invested in their physical status have positive impact on a life worth living.
Aim: To analyse the correlation between the physical status of a cohort of adults with haemophilia and their mental, emotional and social states regarding their treatment modality; Also, to investigate which variables are most related to quality of life (QoL), joint health and emotional, mental and social states.
Methods: In this cross-sectional, 102 adults with haemophilia divided into a prophylactic group (G1, n = 77) and on-demand group (G2, n = 25) were included.
Introduction: Diagnosing moderate haemophilia A (MHA) solely based on deficient FVIII protein levels limits its optimal management and delays the initiation of prophylaxis. Updating protocols and incorporating new variables into its diagnosis could prevent underestimating disease severity, avoiding early arthropathies and impairing patients' quality of life.
Aim: To propose recommendations to improve the comprehensive management of people with MHA.
Comprehensive Screening of Genetic Variants in the Coding Region of in Severe Hemophilia A Reveals a Relationship with Disease Severity in a Colombian Cohort.
Life (Basel)
August 2024
Article Synopsis
- Hemophilia A is an X-linked disorder caused by a deficiency of coagulation factor VIII, mainly due to mutations in the factor 8 gene, and this study focused on identifying genetic variants in Colombian males with severe hemophilia A.
- The study analyzed 50 participants and discovered 17 different pathogenic variants, with 70% being truncation variants and 35% being novel mutations not previously reported.
- A significant finding was that 75% of participants with a history of positive inhibitors had light chain variants, indicating a possible relationship between variant location and inhibitor risk, paving the way for personalized treatment strategies.
Pediatric cancer, a complex and heterogeneous group of diseases, continues to challenge medical research and treatment strategies. Despite advances in precision medicine and immunotherapy, certain aggressive subtypes of pediatric cancer are resistant to conventional therapies, requiring further exploration of potential therapeutic targets. Neutrophil extracellular traps (NETs), net-like structures released by neutrophils, have emerged as a potential player in the pediatric cancer landscape.
View Article and Find Full Text PDFBackground: Inferior vena cava agenesis (IVCA) is a rare anomaly predisposing affected people to lower-limb venous thrombosis with low frequency of pulmonary embolism. Antenatal thrombosis and inherited thrombophilia have been suggested as causes of IVCA. However, there is little evidence on the clinical course and management of this condition.
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