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INTRODUCTION: There are no defined criteria for deciding to remove a non-functioning indwelling pleural catheter (IPC) when lung re-expansion on chest X-ray is incomplete. Chest computed tomography (chest CT) is usually used. The objective of this work is to validate the usefulness of chest ultrasound performed by a pulmonologist and by a radiologist compared to chest CT. PATIENTS AND METHODS: Prospective, descriptive, multidisciplinary and multicenter study including patients with malignant pleural effusion and non-functioning IPC without lung reexpansion. Decisions made on the basis of chest ultrasound performed by a pulmonologist, and performed by a radiologist, were compared with chest CT as the gold standard. RESULTS: 18 patients were analyzed, all of them underwent ultrasound by a pulmonologist and chest CT and in 11 of them also ultrasound by a radiologist. The ultrasound performed by the pulmonologist presents a sensitivity of 60%, specificity of 100%, PPV 100% and NPV 66% in the decision of the correct removal of the IPC. The concordance of both ultrasounds (pulmonologist and radiologist) was 100%, with a kappa index of 1. The 4 discordant cases were those in which the IPC was not located on the ultrasound. CONCLUSIONS: Thoracic ultrasound performed by an expert pulmonologist is a valid and simple tool to determine spontaneous pleurodesis and remove a non-functioning IPC, which would make it possible to avoid chest CT in those cases in which lung reexpansion is observed with ultrasonography.
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Derrame Pleural Maligno , Humanos , Derrame Pleural Maligno/diagnóstico por imagen , Derrame Pleural Maligno/terapia , Derrame Pleural Maligno/patología , Estudios Prospectivos , Cateterismo , Catéteres de Permanencia , UltrasonografíaAsunto(s)
Peca Melanótica de Hutchinson , Melanoma , Neoplasias Cutáneas , Humanos , Estudios Retrospectivos , Peca Melanótica de Hutchinson/cirugía , Peca Melanótica de Hutchinson/patología , Neoplasias Cutáneas/cirugía , Neoplasias Cutáneas/patología , Masculino , Femenino , Melanoma/cirugía , Melanoma/patología , Anciano , Persona de Mediana Edad , Anciano de 80 o más Años , AdultoRESUMEN
STUDY QUESTION: Does platelet-rich plasma (PRP) intraovarian injection increase the number of retrieved oocytes in successive ovarian punctions among patients with poor ovarian reserve (POR)? SUMMARY ANSWER: The injection of PRP increases the number of retrieved oocytes without increasing the quality of developed blastocysts. WHAT IS KNOWN ALREADY: Management of women with reduced ovarian response to stimulation is one of the significant challenges in reproductive medicine. Recently, PRP treatment has been proposed as an adjunct in assisted reproduction technology, with controversial results. STUDY DESIGN, SIZE, DURATION: This placebo-controlled, double-blind, randomized trial included 60 patients with POR stratified according to the POSEIDON classification groups 3 and 4. It was conducted to explore the efficacy and safety of intraovarian PRP injection. Patients were proposed to undergo three consecutive ovarian stimulations to accumulate oocytes and were randomized to receive either PRP or placebo during their first oocyte retrieval. Randomization was performed using computer-generated randomization codes. Double blinding was ensured so that neither the participant nor the investigators knew of the treatment allotted. All patients underwent three ovarian stimulations and egg retrieval procedures. ICSI was performed after a third ovarian puncture. The primary endpoint was the number of mature oocytes retrieved after PRP or placebo injection in successive ovarian punctures. PARTICIPANTS/MATERIALS, SETTING, METHODS: Sixty women (30-42 years) fulfilling inclusion criteria were randomized in equal proportions to the treatment or control groups. MAIN RESULTS AND THE ROLE OF CHANCE: The baseline demographic and clinical characteristics [age, BMI, anti-Müllerian hormone (AMH) levels] were comparable between the groups. Regarding the primary endpoint, the cumulative number (mean ± SEM) of retrieved mature oocytes was slightly higher in the treatment group: 10.45 ± 0.41 versus 8.91 ± 0.39 in the control group, respectively (95% CI of the difference 0.42-2.66; P = 0,008). The number of mature oocytes obtained among all patients increased in successive egg retrievals: 2.61 ± 0.33 (mean ± SEM) in punction 1 (P1), 3.85 ± 0.42 in P2, and 4.73 ± 0.44 in P3. However, the increase was higher among patients receiving the assessed PRP treatment. In P2, the number of retrieved mature oocytes was 4.18 ± 0.58 versus 3.27 ± 0.61 in controls (95% CI of the difference: -0.30 to 2.12; P = 0.138) and in P3, 5.27 ± 0.73 versus 4.15 ± 0.45 (95% CI of the difference: 0.12-2.12; P = 0.029). The mean ± SEM number of developed and biopsied blastocysts was 2.43 ± 0.60 in the control group and 1.90 ± 0.32 in the treatment group, respectively (P = 0.449). The mean number of euploid blastocysts was 0.81 ± 0.24 and 0.81 ± 0.25 in the control and treatment groups, respectively (P = 1.000). The percentages of patients with euploid blastocysts were 53.33% (16 out of 30) and 43.33% (13 out of 30) for patients in the control and treatment groups, respectively (Fisher's exact test P = 0.606). The overall pregnancy rate per ITT was 43% (26 out of 60 patients). However, the percentage of clinical pregnancies was higher in the control group (18 out of 30, 60%) than in the treatment group (8 out of 30, 27%) (P = 0.018). There was also a trend toward poorer outcomes in the treatment group when considering full-term pregnancies (P = 0.170). There were no differences between control and treatment groups regarding type of delivery, and sex of newborns. LIMITATIONS, REASONS FOR CAUTION: The mechanism of the potential beneficial effect of PRP injection on the number of retrieved oocytes is unknown. Either delivered platelet factors or a mechanical effect could be implicated. Further studies will be needed to confirm or refute the data presented in this trial and to specify the exact mechanism of action, if any, of PRP preparations. WIDER IMPLICATIONS OF THE FINDINGS: The increasing number of women with a poor response to ovarian stimulation supports the exploration of new areas of research to know the potential benefits of therapies capable of increasing the number of oocytes available for fertilization and improving the quality of developed blastocysts. An increase in the retrieved oocytes in both arms of the trial suggests that, beyond the release of growth factor from platelets, a mechanical effect can play a role. However, neither improvement in euploid blastocyst development nor pregnancy rates have been demonstrated. STUDY FUNDING/COMPETING INTEREST(S): This trial was supported by Basque Government and included in HAZITEK program, framed in the new Euskadi 2030 Science and Technology Plan (PCTI 2030). These aids are co-financed by the European Regional Development Fund (FEDER). The study funders had no role in the study design, implementation, analysis, manuscript preparation, or decision to submit this article for publication. No competing interests are declared by all the authors. TRIAL REGISTRATION NUMBER: Clinical Trial Number EudraCT 2020-000247-32. TRIAL REGISTRATION DATE: 3 November 2020. DATE OF FIRST PATIENT'S ENROLLMENT: 16 January 2021.
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Fertilización In Vitro , Técnicas Reproductivas Asistidas , Recién Nacido , Embarazo , Humanos , Femenino , Fertilización In Vitro/métodos , Resultado del Tratamiento , Ovario , Índice de Embarazo , Inducción de la Ovulación/métodosRESUMEN
Understanding how Mediterranean forests respond to the increasing frequency of extreme droughts and forest densification is crucial for effective land management in the present context of climate change and land abandonment. We study the responses of Iberian holm oak (Quercus ilex L.) woodlands to recent extreme droughts during 2000-2019 along broad gradients of climate aridity and forest structure. To this purpose, we apply large-scale remote-sensing using MODIS EVI as a primary production proxy in 5274 Q. ilex sites distributed within a 100,000 km2 region in eastern Spain. These woodlands were extensively affected by two extreme drought events in 2005 and 2012. Resistance, assessed as the capacity of the ecosystems to maintain primary production during drought, was significantly lower for semi-arid than for sub-humid and dry-transition conditions. Holm oak woodlands located in semi-arid areas of the region showed also poorer resilience to drought, characterized by low capacity to fully recover to their pre-drought production levels. Further, drought intensity and both pre- and post-drought hydric conditions controlled the variations of resistance, recovery and resilience between the two analyzed extreme drought events. Drought effects were particularly negative for dense Q. ilex stands under semi-arid climate conditions, where strong competition for scarce water resources reduced drought resistance. The observed drought vulnerability of semi-arid holm oak woodlands may affect the long-term stability of these dry forests. Adaptive management strategies, such as selective forest thinning, may be useful for improving drought responses in these more vulnerable semi-arid woodlands. Conversely, natural rewilding may more appropriately guide management actions for more humid areas, where densely developed Q. ilex woodlands show in general a high ability to maintain ecosystem primary production during drought.
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Ecosistema , Quercus , Sequías , Quercus/fisiología , España , Bosques , Cambio Climático , Árboles/fisiologíaRESUMEN
Objective Investigate the predictive value of NEWS2, NEWS-C, and COVID-19 Severity Index for predicting intensive care unit (ICU) transfer in the next 24h. Design Retrospective multicenter study. Setting Two third-level hospitals in Argentina. Patients All adult patients with confirmed COVID-19, admitted on general wards, excluding patients with non-intubated orders. Interventions Patients were divided between those who were admitted to ICU and non-admitted. We calculated the three scores for each day of hospitalization. Variables We evaluate the calibration and discrimination of the three scores for the outcome ICU admission within 24, 48h, and at hospital admission. Result We evaluate 13,768 days of hospitalizations on general medical wards of 1318 patients. Among these, 126 (9.5%) were transferred to ICU. The AUROC of NEWS2 was 0.73 (95%CI 0.680.78) 24h before ICU admission, and 0.52 (95%CI 0.470.57) at hospital admission. The AUROC of NEWS-C was 0.73 (95%CI 0.680.78) and 0.52 (95%CI 0.470.57) respectively, and the AUROC of COVID-19 Severity Index was 0.80 (95%CI 0.770.84) and 0.61 (95%CI 0.580.66) respectively. COVID-19 Severity Index presented better calibration than NEWS2 and NEWS-C. Conclusion COVID-19 Severity index has better calibration and discrimination than NEWS2 and NEWS-C to predict ICU transfer during hospitalization (AU)
Objetivo Investigar el valor predictivo de los scores NEWS2, NEWS-C y COVID-19 Severity Index para predecir la transferencia de urgencia a la unidad de cuidados intensivos (UCI) en las próximas 24horas. Diseño Estudio multicéntrico retrospectivo. Ámbito Dos hospitales de tercer nivel en Argentina. Pacientes Pacientes adultos con COVID-19, ingresados en salas generales, excluyendo pacientes con órdenes de no intubar. Intervenciones Se dividió a los pacientes entre los que ingresaron en la UCI y los que no ingresaron. Calculamos las tres puntuaciones para cada día de hospitalización. Variables Evaluamos la calibración y discriminación de las tres puntuaciones para predecir el traslado de urgencia a UCI en las 24, 48h previas al pase a UCI y al ingreso hospitalario. Resultados Evaluamos 13.768 días de hospitalización en internación general de 1.318 pacientes, de los cuales 126 (9,5%) fueron trasladados a UCI. El AUROC del NEWS2 fue de 0,73 (IC 95% 0,68-0,78) 24h antes del ingreso en UCI y de 0,52 (IC 95% 0,47-0,57) al ingreso hospitalario. El AUROC de NEWS-C fue de 0,73 (IC 95% 0,68-0,78) y 0,52 (IC 95% 0,47-0,57) respectivamente, y el AUROC del COVID-19 Severity Index fue de 0,80 (IC 95% 0,77-0,84) y 0,61 (IC 95% 0,58-0,66) respectivamente. El COVID-19 Severity Index presentó una mejor calibración que NEWS2 y NEWS-C. Conclusión El COVID-19 Severity Index presentó una mejor calibración y discriminación que NEWS2 y NEWS-C para predecir la transferencia de la UCI durante la hospitalización (AU)
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Humanos , Masculino , Femenino , Adulto , Persona de Mediana Edad , Anciano , Anciano de 80 o más Años , Índice de Severidad de la Enfermedad , Infecciones por Coronavirus/diagnóstico , Neumonía Viral/diagnóstico , Pandemias , Estudios Retrospectivos , Valor Predictivo de las PruebasRESUMEN
OBJECTIVE: Investigate the predictive value of NEWS2, NEWS-C, and COVID-19 Severity Index for predicting intensive care unit (ICU) transfer in the next 24h. DESIGN: Retrospective multicenter study. SETTING: Two third-level hospitals in Argentina. PATIENTS: All adult patients with confirmed COVID-19, admitted on general wards, excluding patients with non-intubated orders. INTERVENTIONS: Patients were divided between those who were admitted to ICU and non-admitted. We calculated the three scores for each day of hospitalization. VARIABLES: We evaluate the calibration and discrimination of the three scores for the outcome ICU admission within 24, 48h, and at hospital admission. RESULTS: We evaluate 13,768 days of hospitalizations on general medical wards of 1318 patients. Among these, 126 (9.5%) were transferred to ICU. The AUROC of NEWS2 was 0.73 (95%CI 0.68-0.78) 24h before ICU admission, and 0.52 (95%CI 0.47-0.57) at hospital admission. The AUROC of NEWS-C was 0.73 (95%CI 0.68-0.78) and 0.52 (95%CI 0.47-0.57) respectively, and the AUROC of COVID-19 Severity Index was 0.80 (95%CI 0.77-0.84) and 0.61 (95%CI 0.58-0.66) respectively. COVID-19 Severity Index presented better calibration than NEWS2 and NEWS-C. CONCLUSION: COVID-19 Severity index has better calibration and discrimination than NEWS2 and NEWS-C to predict ICU transfer during hospitalization.
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COVID-19 , Deterioro Clínico , Puntuación de Alerta Temprana , Adulto , Humanos , COVID-19/diagnóstico , Hospitalización , Unidades de Cuidados IntensivosRESUMEN
Objective: Investigate the predictive value of NEWS2, NEWS-C, and COVID-19 Severity Index for predicting intensive care unit (ICU) transfer in the next 24 h. Design: Retrospective multicenter study. Setting: Two third-level hospitals in Argentina. Patients: All adult patients with confirmed COVID-19, admitted on general wards, excluding patients with non-intubated orders. Interventions: Patients were divided between those who were admitted to ICU and non-admitted. We calculated the three scores for each day of hospitalization. Variables: We evaluate the calibration and discrimination of the three scores for the outcome ICU admission within 24, 48 h, and at hospital admission. Results: We evaluate 13,768 days of hospitalizations on general medical wards of 1318 patients. Among these, 126 (9.5%) were transferred to ICU. The AUROC of NEWS2 was 0.73 (95%CI 0.68-0.78) 24 h before ICU admission, and 0.52 (95%CI 0.47-0.57) at hospital admission. The AUROC of NEWS-C was 0.73 (95%CI 0.68-0.78) and 0.52 (95%CI 0.47-0.57) respectively, and the AUROC of COVID-19 Severity Index was 0.80 (95%CI 0.77-0.84) and 0.61 (95%CI 0.58-0.66) respectively. COVID-19 Severity Index presented better calibration than NEWS2 and NEWS-C. Conclusion: COVID-19 Severity index has better calibration and discrimination than NEWS2 and NEWS-C to predict ICU transfer during hospitalization.
Objetivo: Investigar el valor predictivo de los scores NEWS2, NEWS-C y COVID-19 Severity Index para predecir la transferencia de urgencia a la unidad de cuidados intensivos (UCI) en las próximas 24 horas. Diseño: Estudio multicéntrico retrospectivo. Ámbito: Dos hospitales de tercer nivel en Argentina. Pacientes: Pacientes adultos con COVID-19, ingresados en salas generales, excluyendo pacientes con órdenes de no intubar. Intervenciones: Se dividió a los pacientes entre los que ingresaron en la UCI y los que no ingresaron. Calculamos las tres puntuaciones para cada día de hospitalización. Variables: Evaluamos la calibración y discriminación de las tres puntuaciones para predecir el traslado de urgencia a UCI en las 24, 48 h previas al pase a UCI y al ingreso hospitalario. Resultados: Evaluamos 13.768 días de hospitalización en internación general de 1.318 pacientes, de los cuales 126 (9,5%) fueron trasladados a UCI. El AUROC del NEWS2 fue de 0,73 (IC 95% 0,68-0,78) 24 h antes del ingreso en UCI y de 0,52 (IC 95% 0,47-0,57) al ingreso hospitalario. El AUROC de NEWS-C fue de 0,73 (IC 95% 0,68-0,78) y 0,52 (IC 95% 0,47-0,57) respectivamente, y el AUROC del COVID-19 Severity Index fue de 0,80 (IC 95% 0,77-0,84) y 0,61 (IC 95% 0,58-0,66) respectivamente. El COVID-19 Severity Index presentó una mejor calibración que NEWS2 y NEWS-C. Conclusión: El COVID-19 Severity Index presentó una mejor calibración y discriminación que NEWS2 y NEWS-C para predecir la transferencia de la UCI durante la hospitalización.
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Objetivos: Debido al aumento en el consumo de los medicamentos biológicos y al impacto que esto supone en el gasto hospitalario, los objetivos de este estudio son: calcular el ahorro económico anual generado por el switch a adalimumab biosimilar y analizar el porcentaje de pacientes que mantienen dicho tratamiento en un hospital de tercer nivel. Material y métodos: Estudio descriptivo, observacional, longitudinal, retrospectivo en el que se incluyeron un grupo de pacientes a los que se les realizó switch de adalimumab por su biosimilar cuando en la Comisión Asesora Técnica de medicamentos de la comunidad se autorizó dicho cambio. Resultados: De los 218 pacientes, nueve tuvieron que volver al medicamento original (4,13%). La motivación fue: pérdida de eficacia en cinco, reacción alérgica en tres y otro, un paciente pediátrico con dolor tras la inyección del medicamento biosimilar. El coste de adquisición en nuestro hospital de una unidad del medicamento original es de 195,6 , mientras que del biosimilar es de 75 . Si consideramos una posología cada dos semanas, ya que es la más frecuente en nuestros pacientes, el coste anual por paciente con el original sería de 5.085 y con el biosimilar de 1.950 . Por lo tanto, el ahorro anual que supone el cambio del medicamento original al biosimilar es de 683.560 . Conclusiones: El switch de adalimumab original al biosimilar supone un importante ahorro económico sin que se reduzca la efectividad en el proceso de su enfermedad. Lo que contribuye a la eficiencia y sostenibilidad del sistema sanitario. En nuestra población, el 4,13% tuvo que volver al medicamento original. Sería conveniente realizar estudios en un número superior de pacientes y continuar su seguimiento a largo plazo para obtener conclusiones más firmes. (AU)
Objectives: Due to the increase in the consumption of biologic drugs and the impact this has on hospital spending, the objectives of this study are: to calculate the economic savings generated by switching to biosimilar adalimumab and to analyze the percentage of patients who maintain this treatment in a tertiary level hospital. Material and methods: Descriptive, observational, longitudinal, retrospective study that included a group of patients who were switched from adalimumab to its biosimilar, when the Technical Advisory Committee for Medicines of the community authorized the change. Results: Of the 218 patients, nine had to return to the original drug (4.13%). The motivation was: loss of efficacy in five, allergic reaction in three and the other was a pediatric patient with pain after injection of the biosimilar drug. The acquisition cost in our hospital of an unit of the original drug is 195.6, while that of the biosimilar is 75. If we consider a dosage every two weeks, since this is the most frequent in our patients, the annual cost per patient with the original drug would be 5,085 and with the biosimilar 1,950. Therefore, the annual savings from switching from the original drug to the biosimilar is 683,560. Conclusions: Switching from the original adalimumab to the biosimilar means significant economic savings without reducing the effectiveness of the disease process. This contributes to the efficiency and sustainability of the halthcare system. In our population, 4.13% had to return to the original drug. It would be advisable to carry out the study in a larger number of patients and to continue its long-term follow-up to obtain firmer conclusions. (AU)
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Humanos , Adalimumab , Biosimilares Farmacéuticos , Renta , Indicadores de Desarrollo SostenibleRESUMEN
Introducción: La hipertensión arterial pulmonar es una enfermedad rara. Cursa con aumento progresivo de la resistencia vascular pulmonar e insuficiencia ventricular derecha y muerte precoz. Los tratamientos específicos han mejorado la esperanza de vida aunque el pronóstico a largo plazo sigue siendo desfavorable con una mortalidad del 40% a los tres años.Materiales y métodos: El estudio es descriptivo observacional trasversal y retrospectivo realizado en un hospital general de tercer nivel entre mayo de 2004 y agosto de 2020. Se midió la capacidad funcional (CF), la presión arterial pulmonar media, el test de la marcha de los 6 minutos (PM6M) entre otras variables. Se recogieron variables de tratamiento farmacológico específico y efectos adversos, así como la adherencia farmacológica.Resultados: La población fue de 27 pacientes, la mayoría mujeres con edad media de 62 años. Más del 80% de los pacientes presentaban CF II-III y PM6M de riesgo intermedio. Los tratamientos en primera línea y monoterapia mayoritarios fueron el sildenafilo y bosentán con un grado de recomendación de Ia, seguidos de ambrisentán. Los otros grupos de fármacos fueron minoritarios en los pacientes. No se encontraron diferencias estadísticamente significativas en la variación del PM6M, sí hubo variación de PAPm de forma positiva. Conclusiones: Todos los pacientes llevaban en tratamiento específico más de tres años, aunque sería necesario ampliar el tamaño muestral. En cuanto a la seguridad los efectos adversos fueron de grado leve y la adherencia al tratamiento elevada. (AU)
Introduction: Pulmonary arterial hypertension is a rare disease. It results a progressive increase in pulmonary vascular resistance and in right ventricular failure and early death. Specific treatments have improved the life expectancy of patients but the long-term prognosis remains poor, resulting in a high mortality of 40% at 3 years. Materials and methods: The research conducted is descriptive, cross-sectional and retrospective. It was carried out in a third level general hospital between May 2004 and August 2020. The measured variables were functional capacity (CF), PAPm, 6-minute walk test (PM6M) and other clinical parameters. Variables related to specific pharmacological treatment and adverse effects, as well as pharmacological adherence were also collected. Results: The study population was 27 patients, most of them women, with an average age of 62 years. More than 80% of patients presented CF II-III and PM6M of moderate risk. First-line and monotherapy treatments were mainly sildenafil and bosentan, with an Ia recommendation level. Ambrisentan was also a first-line treatment. The other drug groups were in the minority among patients. On the other hand, no statistically significant differences in PM6M variation were found, although there was positive variation in PAPm. Conclusions: The patients had been on specific treatment for more than three years. In terms of safety, adverse effects were minor and adherence to treatment high. (AU)
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Humanos , Masculino , Femenino , Persona de Mediana Edad , Anciano , Hipertensión/terapia , Hipertensión Pulmonar/terapia , Quimioterapia , Resultado del Tratamiento , Epidemiología Descriptiva , Estudios Transversales , Estudios Retrospectivos , Calidad de Vida , Cumplimiento y Adherencia al TratamientoRESUMEN
Introducción: El 30% de los pacientes con epilepsia no responde al tratamiento farmacológico. La presencia de polimorfismos genéticos de nucleótido único (SNP) en el individuo puede influir en la variabilidad de respuesta al tratamiento farmacológico. La hipótesis de transportadores plantea que la presencia de SNP en los genes que codifican las proteínas ABC repercutiría en la biodisponibilidad de los fármacos anticrisis en el foco epileptógeno, lo que ocasionaría refractariedad. El objetivo del presente estudio fue evaluar la asociación de 13 polimorfismos en los genes ABCB1, ABCC2, ABCC5 y ABCG2 con la epilepsia farmacorresistente (EFR) en población española. Sujetos y métodos: Se realizó un estudio de casos y controles que incluyó a 327 pacientes con epilepsia: 227 farmacorresistentes y 100 farmacocontrolados según los criterios de la Liga Internacional contra la Epilepsia. En el ADN de leucocitos de sangre periférica extraído se estudiaron los polimorfismos en los genes transportadores ABC. Se utilizó la plataforma tecnológica iPlex® Gold y Mass ARRAY. Se compararon las frecuencias alélicas y genotípicas del grupo de casos y del de controles, el valor de p, la odds ratio y los intervalos de confianza al 95%. Resultados: La frecuencia alélica y genotípica del presente estudio fue similar a la comunicada en las bases de datos poblacionales. En los SNP estudiados no se encontraron diferencias significativas (p > 0,05) en todos los modelos de herencia analizados. Conclusiones: Nuestros resultados sugieren que no existe asociación entre los polimorfismos analizados en los genes ABC con la EFR en población española. Sin embargo, otros estudios adicionales confirmarán o descartarán estos resultados.(AU)
Introduction: Almost a third of all patients with epilepsy (30%) fail to respond to pharmacological treatment. The presence of single nucleotide polymorphisms (SNPs) in the individual may influence the variability of the response to drug treatment. The transporter hypothesis posits that the presence of SNPs in the genes encoding ABC proteins would affect the bioavailability of antiseizure drugs at the epileptogenic focus, giving rise to refractoriness. The aim of the present study was to evaluate the association of 13 polymorphisms in the ABCB1, ABCC2, ABCC5 and ABCG2 genes with drug-resistant epilepsy (DRE) in a Spanish population. Subjects and methods: A case-control study was conducted involving 327 patients with epilepsy: 227 resistant to drug therapy and 100 in whom their medication enabled them to control their symptoms, according to International League Against Epilepsy criteria. In the peripheral blood leukocyte DNA that was extracted, polymorphisms in the ABC transporter genes were studied. The iPlex® Gold and Mass ARRAY technology platform was used. The allele and genotypic frequencies of the case and control groups, p-value, odds ratio and 95% confidence intervals were compared. Results: The allele and genotypic frequency of the present study was similar to that reported in population-based databases. For the SNPs studied, no significant differences (p > 0.05) were found in any of the inheritance models analysed. Conclusions: Our results suggest that there is no association between the polymorphisms analysed in the ABC genes and DRE in the Spanish population. Nevertheless, further studies will confirm or refute these results.(AU)
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Humanos , Masculino , Femenino , Polimorfismo Genético , Pacientes , Epilepsia , Epilepsia Refractaria , Pruebas de Farmacogenómica , Transportadoras de Casetes de Unión a ATP , España , Estudios Prospectivos , Estudios de Casos y Controles , Neurología , Enfermedades del Sistema NerviosoRESUMEN
INTRODUCTION: Almost a third of all patients with epilepsy (30%) fail to respond to pharmacological treatment. The presence of single nucleotide polymorphisms (SNPs) in the individual may influence the variability of the response to drug treatment. The transporter hypothesis posits that the presence of SNPs in the genes encoding ABC proteins would affect the bioavailability of antiseizure drugs at the epileptogenic focus, giving rise to refractoriness. The aim of the present study was to evaluate the association of 13 polymorphisms in the ABCB1, ABCC2, ABCC5 and ABCG2 genes with drug-resistant epilepsy (DRE) in a Spanish population. SUBJECTS AND METHODS: A case-control study was conducted involving 327 patients with epilepsy: 227 resistant to drug therapy and 100 in whom their medication enabled them to control their symptoms, according to International League Against Epilepsy criteria. In the peripheral blood leukocyte DNA that was extracted, polymorphisms in the ABC transporter genes were studied. The iPlex® Gold and Mass ARRAY technology platform was used. The allele and genotypic frequencies of the case and control groups, p-value, odds ratio and 95% confidence intervals were compared. RESULTS: The allele and genotypic frequency of the present study was similar to that reported in population-based databases. For the SNPs studied, no significant differences (p > 0.05) were found in any of the inheritance models analysed. CONCLUSIONS: Our results suggest that there is no association between the polymorphisms analysed in the ABC genes and DRE in the Spanish population. Nevertheless, further studies will confirm or refute these results.
TITLE: Asociación entre los polimorfismos genéticos de nucleótido único en genes transportadores ABC con la epilepsia farmacorresistente en la población española.Introducción. El 30% de los pacientes con epilepsia no responde al tratamiento farmacológico. La presencia de polimorfismos genéticos de nucleótido único (SNP) en el individuo puede influir en la variabilidad de respuesta al tratamiento farmacológico. La hipótesis de transportadores plantea que la presencia de SNP en los genes que codifican las proteínas ABC repercutiría en la biodisponibilidad de los fármacos anticrisis en el foco epileptógeno, lo que ocasionaría refractariedad. El objetivo del presente estudio fue evaluar la asociación de 13 polimorfismos en los genes ABCB1, ABCC2, ABCC5 y ABCG2 con la epilepsia farmacorresistente (EFR) en población española. Sujetos y métodos. Se realizó un estudio de casos y controles que incluyó a 327 pacientes con epilepsia: 227 farmacorresistentes y 100 farmacocontrolados según los criterios de la Liga Internacional contra la Epilepsia. En el ADN de leucocitos de sangre periférica extraído se estudiaron los polimorfismos en los genes transportadores ABC. Se utilizó la plataforma tecnológica iPlex® Gold y Mass ARRAY. Se compararon las frecuencias alélicas y genotípicas del grupo de casos y del de controles, el valor de p, la odds ratio y los intervalos de confianza al 95%. Resultados. La frecuencia alélica y genotípica del presente estudio fue similar a la comunicada en las bases de datos poblacionales. En los SNP estudiados no se encontraron diferencias significativas (p > 0,05) en todos los modelos de herencia analizados. Conclusiones. Nuestros resultados sugieren que no existe asociación entre los polimorfismos analizados en los genes ABC con la EFR en población española. Sin embargo, otros estudios adicionales confirmarán o descartarán estos resultados.
Asunto(s)
Epilepsia Refractaria , Epilepsia , Humanos , Polimorfismo de Nucleótido Simple , Transportadoras de Casetes de Unión a ATP/genética , Estudios de Casos y Controles , Epilepsia Refractaria/tratamiento farmacológico , Epilepsia Refractaria/genética , Epilepsia/tratamiento farmacológico , Epilepsia/genética , Genotipo , Oro/uso terapéutico , Nucleótidos/uso terapéuticoAsunto(s)
Humanos , Masculino , Femenino , Niño , Adolescente , Atletas , Aorta/anatomía & histología , Estudios Transversales , Valores de Referencia , EcocardiografíaRESUMEN
Introducción: El erenumab, un antagonista del péptido relacionado con el gen de la calcitonina, ha sido autorizado para la profilaxis de la migraña. Se presenta como una alternativa para pacientes con múltiples fracasos terapéuticos, los cuales presentan baja calidad de vida y alta discapacidad asociada.Objetivo: Analizar la efectividad y la seguridad del erenumab durante el primer año de tratamiento y evaluar su impacto en la calidad de vida y la discapacidad. Pacientes y métodos: Estudio observacional prospectivo longitudinal realizado durante 15 meses. Se incluyó a los pacientes que cumplían los criterios de financiación del erenumab. Se recogieron años de enfermedad, días de migraña/mes, intensidad del dolor, tratamientos previos, dosis y efectos adversos. Además, se evaluaron la calidad de vida y la discapacidad mediante los cuestionarios Migraine-Specific Quality Of Life Questionnaire 2.1 y Migraine Disability Assessment Scale, que se repitieron a los tres y a los 12 meses. Resultados:Se incluyó a 43 pacientes, el 79,1% mujeres, el 95,3% con migraña crónica y con una edad media de 48,2 años. Previamente al erenumab presentaban 20 días de migraña/mes, intensidad de dolor 8,2, un 30,6% de calidad de vida y el 72,5% tenía discapacidad muy grave. Quince pacientes suspendieron el erenumab por ineficacia y uno por intolerancia. Trece recibieron erenumab durante un año y 14 continuaban en tratamiento. Las cuatro variables de efectividad mejoraron significativamente con el erenumab al tercer mes. Quince pacientes (34,9%) presentaron efectos adversos, en su mayoría leves. El estreñimiento fue el más frecuente. Conclusiones: El erenumab mostró efectividad en la mayoría de los pacientes para profilaxis de migraña en los tres primeros meses, reduciendo significativamente los días de migraña/mes, la intensidad del dolor y la discapacidad asociada. Además, mejoró significativamente la calidad de vida. Es un fármaco seguro.(AU)
Introduction: Erenumab, a calcitonin gene-related peptide antagonist, has been approved for migraine prophylaxis. It represents an alternative for patients with multiple treatment failures, who have a low quality of life and high associated disability. Aim: To analyse the effectiveness and safety of erenumab during the first year of treatment and to assess its impact on quality of life and disability. Patients and methods. It is a longitudinal prospective observational study conducted over 15 months. Patients who met the funding criteria for erenumab were included. Data concerning years of illness, migraine days/month, pain intensity, previous treatments, doses and adverse effects were collected. In addition, quality of life and disability were assessed using the Migraine-Specific Quality Of Life Questionnaire 2.1 and Migraine Disability Assessment Scale, repeated at three and 12 months. Results: Forty-three patients were included, 79.1% female, 95.3% with chronic migraine and with a mean age of 48.2 years. Prior to erenumab they had 20 migraine days/month, a pain intensity of 8.2 and a 30.6% quality of life, and 72.5% had very severe disability. Fifteen patients stopped taking erenumab due to inefficacy and one due to intolerance. Thirteen received erenumab for one year and 14 continued with the treatment. All four effectiveness variables were significantly improved with erenumab by the third month. Fifteen patients (34.9%) had adverse effects, most of which were mild. Constipation was the most frequent. Conclusions: Erenumab proved effective in most patients for migraine prophylaxis in the first three months, significantly reducing the number of migraine days/month, pain intensity and associated disability. Moreover, it significantly improved their quality of life . It is a safe drug.(AU)