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1.
Cancers (Basel) ; 15(22)2023 Nov 09.
Artículo en Inglés | MEDLINE | ID: mdl-38001598

RESUMEN

(1) Background: Our understanding of and treatment for multiple myeloma (MM) has advanced significantly, and new pharmacological treatments have promising benefits but high price tags. This study analyzes prescription patterns and pharmaceutical expenditure for MM treatments in Catalonia's public healthcare system over eight years. (2) Methods: A retrospective observational study examined MM treatment data from 2015 to 2022 in Catalonia, using healthcare registries from the Catalan Health Service to collect information on patients, medicines used, and treatment costs. (3) Results: A total of 4556 MM patients received treatment, with a rising trend in the number of treated patients each year from 902 in 2015 to 1899 in 2022. The mean age was 68.9 years, and patients were almost evenly distributed by gender (51.5% male). Most patients were treated with bortezomib (3338 patients), lenalidomide (2952), and/or daratumumab (1093). Most drugs showed increased utilization annually, most significantly for lenalidomide and daratumumab. The total pharmacological treatment cost throughout the entire study period was EUR 321,811,249, with lenalidomide leading with the highest total cost (EUR 157,236,784), and daratumumab exhibiting the highest increase in annual expenditure. (5) Conclusions: The study reveals a progressive increase in the number of MM patients treated and rising pharmaceutical costs. Lenalidomide and daratumumab incurred the highest costs. The findings highlight MM treatment's economic impact and the need to monitor prescription patterns and expenditures to optimize healthcare resources and decision making. Understanding these trends can guide resource allocation effectively.

2.
Sci Rep ; 10(1): 2766, 2020 02 17.
Artículo en Inglés | MEDLINE | ID: mdl-32066781

RESUMEN

Recent studies associated certain type of cardiovascular disease (CVD) with specific mitochondrial DNA (mtDNA) defects, mainly driven by the central role of mitochondria in cellular metabolism. Considering the importance of the control region (CR) on the regulation of the mtDNA gene expression, the aim of the present study was to investigate the role of mtDNA CR mutations in two CVDs: stroke and myocardial infarction (MI). MtDNA CR mutations (both fixed and in heteroplasmy) were analysed in two demographically-matched case-control samples, using 154 stroke cases, 211 MI cases and their corresponding control individuals. Significant differences were found, reporting mutations m.16145 G > A and m.16311 T > C as potential genetic risk factors for stroke (conditional logistic regression: p = 0.038 and p = 0.018, respectively), whereas the m.72 T > C, m.73 A > G and m.16356 T > C mutations could act as possible beneficial genetic factors for MI (conditional logistic regression: p = 0.001, p = 0.009 and p = 0.016, respectively). Furthermore, our findings also showed a high percentage of point heteroplasmy in MI controls (logistic regression: p = 0.046; OR = 0.209, 95% CI [0.045-0.972]). These results demonstrate the possible role of mtDNA mutations in the CR on the pathogenesis of stroke and MI, and show the importance of including this regulatory region in genetic association studies.


Asunto(s)
ADN Mitocondrial/genética , Región de Control de Posición/genética , Infarto del Miocardio/genética , Accidente Cerebrovascular/genética , Adulto , Anciano , Femenino , Humanos , Modelos Logísticos , Masculino , Persona de Mediana Edad , Mitocondrias/genética , Mutación/genética , Infarto del Miocardio/fisiopatología , Factores de Riesgo , Accidente Cerebrovascular/fisiopatología
3.
Mitochondrion ; 44: 1-6, 2019 01.
Artículo en Inglés | MEDLINE | ID: mdl-29258787

RESUMEN

There are strong evidences that common mitochondrial DNA (mtDNA) haplogroups may influence the pathogenesis of cardiovascular diseases (CVDs). In this matched case-control study, we investigate the association between mtDNA haplogroups and two CVDs, myocardial infarction (MI) and stroke, and classical cardiovascular risk factors. Data obtained show that haplogroup H constitute a susceptibility risk factor for MI (p=0.001; OR=2.379, 95% CI [1.440-3.990]). Otherwise, our data also suggest a beneficial role of haplogroup J against hypertension (p=0.019; OR=0.348, 95% CI [0.144-0.840]). These results may provide some guidance for predicting the genetic risk of these diseases in different human populations through the differences in energy efficiency between haplogroups.


Asunto(s)
ADN Mitocondrial/genética , Predisposición Genética a la Enfermedad , Haplotipos , Infarto del Miocardio/genética , Accidente Cerebrovascular/genética , Adulto , Anciano , Anciano de 80 o más Años , Estudios de Casos y Controles , Femenino , Humanos , Hipertensión/genética , Masculino , Persona de Mediana Edad , Infarto del Miocardio/epidemiología , Medición de Riesgo , España/epidemiología , Accidente Cerebrovascular/epidemiología
4.
Am J Hum Biol ; 26(4): 556-8, 2014.
Artículo en Inglés | MEDLINE | ID: mdl-24677298

RESUMEN

OBJECTIVES: The main goal of this study is to increase knowledge on the molecular level of the ABO blood group system in Europe by providing data for Poland, Spain, and Andorra populations. METHODS: A total of 172 oral scrapings samples from individuals of Polish origin, 108 peripheral blood samples of autochthonous individuals from the province of Zamora (Spain), and 81 peripheral blood samples from individuals with Andorran origin, were analyzed. Molecular characterization of the allelic variants was performed by the analysis of exons 6 and 7 of the ABO gene. RESULTS: Seven common alleles were identified, namely: A101, A102, A201, B101, O01, O02, and O03. Less common variants (O05, O09, O21, O26, O06, O11, and O12), were also detected. CONCLUSIONS: The results obtained contribute to the knowledge of the molecular European ABO map, and are discussed in regard to the allelic frequency reported by other Caucasian and Asian populations.


Asunto(s)
Sistema del Grupo Sanguíneo ABO/genética , Polimorfismo Genético , Sistema del Grupo Sanguíneo ABO/metabolismo , Alelos , Andorra , Exones , Frecuencia de los Genes , Humanos , Polonia , España
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