Publications by authors named "Ronald Guillermo Pelaez"
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.
Introduction: Pediatric and neonatal sepsis is one of the main causes of mortality and morbidity in these age groups. Accurate and early etiological identification is essential for guiding antibiotic treatment, improving survival, and reducing complications and sequelae. Currently, the identification is based on culture-dependent methods, which has many limitations for its use in clinical practice, and obtaining its results is delayed.
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- The narrative review aims to enhance understanding of hemophilia A, a genetic disease that significantly affects the quality of life and is costly for health systems, particularly noted as one of the top economic burdens in Colombia.
- The review highlights the shift towards precision medicine in treating hemophilia, emphasizing the importance of genetic, pharmacokinetic, and environmental factors that affect treatment efficacy.
- Building robust scientific evidence with strong statistical backing is essential to personalize treatment approaches in a cost-effective manner.
Article Synopsis
- * The study included 12 patients with severe hemophilia A, aged 6 to 48, and found that 50% had an inversion of intron 22, which is associated with a higher risk of developing inhibitors.
- * Results showed that 83.3% of patients had null mutations, with 66.7% presenting high inhibitor titers, suggesting a need for further research on how these mutations impact treatment effectiveness and coagulation factors.
Introduction: The well-known drug resistance mechanisms to pentavalent antimony have been widely described in strains of the Leishmania subgenus, but little is known about the mechanisms of resistance and the proteins associated with it in strains of the Viannia subgenus such as Leishmania panamensis.
Objective: Differentially expressed proteins were identified between pentavalent antimonial sensitive and resistant L. panamensis (UA140) strains, and the role of these proteins was analyzed as possible resistance mechanisms.