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1.
Rev Esp Patol ; 54(3): 211-214, 2021.
Artículo en Español | MEDLINE | ID: mdl-34175036

RESUMEN

Lung cancer with EGFR mutation is rare in our country, with an estimated incidence of 7-10%. It is well known that, in this type of disease, specific inhibitors should be used, as they increase patient survival and therefore prognosis. So-called tumour heterogeneity, the possibility of various mutations concurring in the same tumour, is currently being debated. We present a case of a double mutation of EGFR and discuss treatment, management and possible implications.


Asunto(s)
Adenocarcinoma del Pulmón/genética , Genes erbB-1/genética , Neoplasias Pulmonares/genética , Mutación , Adenocarcinoma del Pulmón/diagnóstico por imagen , Femenino , Humanos , Neoplasias Pulmonares/diagnóstico por imagen , Persona de Mediana Edad , Tomografía Computarizada por Rayos X
2.
Rev Esp Patol ; 54(2): 85-91, 2021.
Artículo en Español | MEDLINE | ID: mdl-33726895

RESUMEN

INTRODUCTION: Pulmonary carcinoids are relatively rare neuroendocrine neoplasms, accounting for only 1-2% of malignant thoracic tumours. We describe our experience in the management and follow-up of such an infrequent tumour, with special emphasis on possible problems that might arise. PATIENTS AND METHODS: We present a descriptive retrospective study of all patients diagnosed with carcinoid tumour between January 2013 and January 2018. Demographic, histological and clinical data were collected and analyzed. Survival was recorded. SPSS version 21 was used for the statistical analysis. RESULTS: 42 patients with an average age of 66.26 years were included. The mean period of follow-up was 60 months and the average survival 59.12 months. The only statistically significant factor related to an improved survival time was tumour stage at diagnosis. CONCLUSION: Carcinoid tumours are infrequent, which makes the objective collecting of data difficult. For this reason, we hope that the present study will contribute to a better understanding of their evolution.


Asunto(s)
Tumor Carcinoide , Neoplasias Pulmonares , Anciano , Tumor Carcinoide/química , Tumor Carcinoide/mortalidad , Tumor Carcinoide/patología , Tumor Carcinoide/cirugía , Ex-Fumadores/estadística & datos numéricos , Femenino , Humanos , Neoplasias Pulmonares/química , Neoplasias Pulmonares/mortalidad , Neoplasias Pulmonares/patología , Neoplasias Pulmonares/cirugía , Masculino , Persona de Mediana Edad , Estadificación de Neoplasias , No Fumadores/estadística & datos numéricos , Estudios Retrospectivos , Fumadores/estadística & datos numéricos , España , Análisis de Supervivencia , Centros de Atención Terciaria
3.
Med Clin (Engl Ed) ; 156(4): 166-171, 2021 Feb 26.
Artículo en Inglés | MEDLINE | ID: mdl-33521293

RESUMEN

OBJECTIVE: To analyze the incidence of Covid-19 in patients who are chronic users of hydroxychloroquine. PATIENTS AND METHODS: Cross-sectional retrospective observational multicenter study in health areas and districts from Castilla La-Mancha and Andalucia. Of the 4451 participants included in the first recruitment, 3817 with valid data were selected. The main variable of the study is the presence or absence of Covid-19 infection by clinical, serological or polymerase chain reaction diagnosis. Sociodemographic and clinical variables and treatment and concomitant comorbidities were recorded. RESULTS: 169 (4,45%) patients had Covid-19 infection, of which 12 (7.1 %) died and 32 (18.9%) required hospital admission. Previous respiratory pathology was related to Covid-19 infection (P < .05). Maculopathy appears in 5.3% of patients and is significantly related to the dose of hydroxychloroquine consumed (P < .05). CONCLUSION: There is no relationship between chronic use of hydroxychloroquine and the incidence of Covid-19.


OBJETIVO: Analizar la incidencia de la enfermedad del coronavirus 19 (COVID-19) en pacientes consumidores crónicos de hidroxicloroquina. PACIENTES Y MÉTODOS: Estudio multicéntrico observacional retrospectivo transversal en Áreas de Salud de Castilla La-Mancha y distritos sanitarios de Andalucía. De los 4.451 participantes incluidos en el primer reclutamiento se seleccionaron 3.817 sujetos con datos válidos. La variable principal del estudio ha sido la presencia o ausencia de infección por la COVID-19 por diagnóstico clínico, serológico o por reacción en cadena de la polimerasa. Se registraron variables sociodemográficas, clínicas y tratamientos y comorbilidades concomitantes. RESULTADOS: Ciento sesenta y nueve (4,45%) pacientes presentaron infección por la COVID-19, de los cuales fallecieron 12 (7,1%) y 32 (18,9%) requirieron ingreso hospitalario. La enfermedad respiratoria previa se relacionó con la infección por la COVID-19 (p < 0,05). La maculopatía aparece en un 5,3% de los pacientes y está relacionada significativamente con la dosis de hidroxicloroquina consumida (p < 0,05). CONCLUSIÓN: No existe relación entre consumo crónico de hidroxicloroquina e incidencia de la COVID-19.

4.
Med Clin (Barc) ; 156(4): 166-171, 2021 02 26.
Artículo en Inglés, Español | MEDLINE | ID: mdl-33308853

RESUMEN

OBJECTIVE: To analyze the incidence of Covid-19 in patients who are chronic users of hydroxychloroquine. PATIENTS AND METHODS: Cross-sectional retrospective observational multicenter study in health areas and districts from Castilla La-Mancha and Andalucia. Of the 4451 participants included in the first recruitment, 3817 with valid data were selected. The main variable of the study is the presence or absence of Covid-19 infection by clinical, serological or polymerase chain reaction diagnosis. Sociodemographic and clinical variables and treatment and concomitant comorbidities were recorded. RESULTS: 169 (4,45%) patients had Covid-19 infection, of which 12 (7.1%) died and 32 (18.9%) required hospital admission. Previous respiratory pathology was related to Covid-19 infection (P<.05). Maculopathy appears in 5.3% of patients and is significantly related to the dose of hydroxychloroquine consumed (P<.05). CONCLUSION: There is no relationship between chronic use of hydroxychloroquine and the incidence of Covid-19.


Asunto(s)
Antirreumáticos/uso terapéutico , Artritis Reumatoide/tratamiento farmacológico , COVID-19/epidemiología , Hidroxicloroquina/uso terapéutico , Lupus Eritematoso Sistémico/tratamiento farmacológico , Adulto , Anciano , Anciano de 80 o más Años , Artritis Reumatoide/complicaciones , COVID-19/complicaciones , COVID-19/diagnóstico , Prueba de COVID-19 , Enfermedad Crónica , Estudios Transversales , Femenino , Humanos , Incidencia , Lupus Eritematoso Sistémico/complicaciones , Masculino , Persona de Mediana Edad , Pronóstico , Factores Protectores , Estudios Retrospectivos , Factores de Riesgo , España/epidemiología
5.
Nat Commun ; 10(1): 797, 2019 02 15.
Artículo en Inglés | MEDLINE | ID: mdl-30770808

RESUMEN

FXR1 is an alternatively spliced gene that encodes RNA binding proteins (FXR1P) involved in muscle development. In contrast to other tissues, cardiac and skeletal muscle express two FXR1P isoforms that incorporate an additional exon-15. We report that recessive mutations in this particular exon of FXR1 cause congenital multi-minicore myopathy in humans and mice. Additionally, we show that while Myf5-dependent depletion of all FXR1P isoforms is neonatal lethal, mice carrying mutations in exon-15 display non-lethal myopathies which vary in severity depending on the specific effect of each mutation on the protein.


Asunto(s)
Genes Recesivos , Predisposición Genética a la Enfermedad/genética , Músculo Esquelético/metabolismo , Mutación , Miopatías Estructurales Congénitas/genética , Oftalmoplejía/genética , Proteínas de Unión al ARN/genética , Canal Liberador de Calcio Receptor de Rianodina/deficiencia , Animales , Células Cultivadas , Exones/genética , Expresión Génica , Células HEK293 , Células HeLa , Humanos , Ratones Transgénicos , Miopatías Estructurales Congénitas/congénito , Miopatías Estructurales Congénitas/metabolismo , Oftalmoplejía/congénito , Oftalmoplejía/metabolismo , Proteínas de Unión al ARN/metabolismo , Canal Liberador de Calcio Receptor de Rianodina/genética , Canal Liberador de Calcio Receptor de Rianodina/metabolismo
6.
Rev Esp Salud Publica ; 88(5): 629-38, 2014 Oct.
Artículo en Español | MEDLINE | ID: mdl-25327271

RESUMEN

BACKGROUND: Hypothyroidism (HT) is a common condition in clinical practice. There is a paucity of recent data on its prevalence in Spain, suggesting the need for an updated estimate and therefore the aim of this study was to determine its prevalence in the province of Cádiz. METHODS: We obtained data relative to medical prescriptions for group H03AA drugs issued in primary care centers attached to the Andalusian Health Service in the province of Cadiz in 2012. Prevalence was estimated on the basis of the defined daily dose (DDD), the prescribed daily dose (DDP) and treated patient records (TPR). We present the estimated prevalence and odds ratio by gender, with a confidence interval of 95%. RESULTS: Prevalence of HT in 2012 in the population aged 15 years and over in the province of Cadiz was 1.36% (CI95: 1.33%-1.38%) based on DDD; 2.60% (CI95: 2.54%-2.66%) based on DDP; and 3.10% (CI95: 2.85%-2.93%) based on TPR. Median age was 56 years (IQR: 43 to 68). Prevalence (TPR) by gender was 0.75% in men and 5.36% in women [OR 7.26 (CI95: 7.02-7.52)]. The greatest prevalence, 9.35%, was found in the group of women aged 51 to 70 years. CONCLUSIONS: Prevalence of HT in Cadiz is high, mainly affects women. Current prescribing systems allowed us to obtain TPRs, which have been shown to be a more valuable tool than DDDs for estimating HT prevalence.


Asunto(s)
Terapia de Reemplazo de Hormonas/estadística & datos numéricos , Hipotiroidismo/epidemiología , Hormonas Tiroideas/uso terapéutico , Adolescente , Adulto , Anciano , Intervalos de Confianza , Femenino , Humanos , Hipotiroidismo/tratamiento farmacológico , Masculino , Persona de Mediana Edad , Prevalencia , Atención Primaria de Salud/estadística & datos numéricos , España/epidemiología , Adulto Joven
7.
Int J Clin Pharm ; 35(4): 538-41, 2013 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-23820894

RESUMEN

We describe the case of a young child with multidrug-resistant tuberculosis, treated with linezolid. The child developed severe neutropenia after 5 months of treatment. Filgrastim was used, a drug that officially is not indicated for non-cytostatic drug-induced neutropenia. This allowed the fast recovery of the patient's neutrophil-count. However, more experience with the off-label use of filgrastrim is needed in the pediatric population.


Asunto(s)
Acetamidas/efectos adversos , Factor Estimulante de Colonias de Granulocitos/uso terapéutico , Neutropenia/tratamiento farmacológico , Oxazolidinonas/efectos adversos , Acetamidas/uso terapéutico , Antituberculosos/efectos adversos , Antituberculosos/uso terapéutico , Filgrastim , Humanos , Lactante , Recuento de Leucocitos , Linezolid , Masculino , Neutropenia/inducido químicamente , Uso Fuera de lo Indicado , Oxazolidinonas/uso terapéutico , Proteínas Recombinantes/uso terapéutico , Índice de Severidad de la Enfermedad , Factores de Tiempo , Tuberculosis Resistente a Múltiples Medicamentos/tratamiento farmacológico
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