The value, or service fee, returned to public institutions who perform laboratory services does not adequately reflect the true total average production costs of examinations.
The genetic structure in Chile is heterogeneous and identifying native, African, European, and Asian components. Increasing the uncertainty about the frequency of genotypic variants and diversifying the response to chemotherapeutic drugs in our population. The individualization of the dose based on Pharmacogenomics is essential to achieve the expected effects of the treatment being more effective and avoiding the toxic effects of drugs such as 6-Mercaptopurine, the main pharmacological agent in acute lymphoblastic leukemia. Whose metabolization is affected by single nucleotide polymorphisms (SNPs) in the enzyme NUDT15 (rs116855232) and the protein MRP4 (rs3765534) related to drug resistance. Both of which cause leukopenia and myelosuppression in patients at standard doses and are not available for detection in Chile. The background of the prevalence of 8.8% in Uruguay and 12.5% in Mexico of the SNP in NUDT15. In addition to international clinical guidelines that recommend reducing the dose by up to 80% depending on the genotype. Is of interest for the development of new techniques in laboratories. In this project both SNPs were implemented using real-time PCR and validated by sequencing being the basis for future studies related to frequencies and their relationship with adverse events. Providing key antecedents for antineoplastic treatment and contributing to the development of a medicine of accuracy in the country.
Entre los fármacos utilizados para lograr una inmunosupresión efectiva en el trasplante renal (TR) se encuentra el ácido micofenólico (MPA), medicamento que se caracteriza por presentar una farmacocinética compleja y una alta variabilidad intra e inter individual. La monitorización del nivel basal (C0) de MPA para ajustes de dosificación se considera controversial, debido principalmente a su baja correlación con el área bajo la curva (ABC). Objetivo: Correlacionar el C0 y ABC de MPA en pacientes pediátricos con TR. Pacientes y Método: Estudio prospectivo realizado en 54 pacientes con TR en tratamiento con MPA. Se realizaron regresiones lineales y correlaciones entre el ABC y C0. Se realizó un análisis grupal de comparaciones múltiples según el tiempo postrasplante y las dos presentaciones orales de MPA. Resultados: El nivel plasmático que mejor se correlaciona con el ABC corresponde al C0 (r2 = 0,52). Existe un importante grupo de pacientes con niveles subterapéuticos (36,6% del total de mediciones). Se determinó también que el C0 debe estar entre 1,42 y 4,55 µg/ml para que el ABC esté en rango terapéutico. Se demostró que la correlación entre C0 y ABC mejora posterior a los tres meses post trasplante y es aún mejor al administrar micofenolato mofetilo. Conclusión: Se recomienda el uso de C0 para ajustar la dosis de MPA en pacientes pediátricos con TR, especialmente en aquellos con más de 3 meses postrasplante. Para pacientes con TR temprano o escenarios clínicos complejos, se recomienda monitorizar utilizando ABC.
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