[Pulmonary adenocarcinoma with double mutation EGFR: L858R and G719X]. / Adenocarcinoma de pulmón con doble mutación de EGFR: L858R y G719X.

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.

[Retrospective study of lung carcinoid: experience in a third level Spanish hospital]. / Estudio retrospectivo descriptivo sobre el tumor carcinoide pulmonar: experiencia de un centro español de tercer nivel.

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.

Incidence of COVID-19 in patients under chronic treatment with hydroxychloroquine.

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.

Incidencia de la COVID-19 en pacientes en tratamiento crónico con hidroxicloroquina / Incidence of COVID-19 in patients under chronic treatment with hydroxychloroquine

Objetivo: Analizar la incidencia de la enfermedad del coronavirus 19 (COVID-19) en pacientes consumidores crónicos de hidroxicloroquina.Pacientes y métodosEstudio 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.ResultadosCiento 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).ConclusiónNo existe relación entre consumo crónico de hidroxicloroquina e incidencia de la COVID-19. (AU)

Objective: To analyze the incidence of Covid-19 in patients who are chronic users of hydroxychloroquine.Patients and methodsCross-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.Results169 (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).ConclusionThere is no relationship between chronic use of hydroxychloroquine and the incidence of Covid-19. (AU)

[Incidence of COVID-19 in patients under chronic treatment with hydroxychloroquine]. / Incidencia de la COVID-19 en pacientes en tratamiento crónico con hidroxicloroquina.

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.

Recessive mutations in muscle-specific isoforms of FXR1 cause congenital multi-minicore myopathy.

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.

[Different methods used to estimate the prevalence of hypothyroidism, Cadiz, Spain]. / Estimación de la prevalencia de hipotiroidismo según diferentes métodos: dosis diaria definida, dosis diaria prescrita y registro de pacientes en tratamiento.

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.

Estimación de la prevalencia de hipotiroidismo según diferentes métodos: dosis diaria definida, dosis diaria prescrita y registro de pacientes en tratamiento / Different methods used to estimate the prevalence of hypothyroidism, Cadiz, Spain

Fundamentos: El hipotiroidismo (HT) es una patología frecuente en la práctica clínica diaria. No existen datos recientes sobre su prevalencia en España. El objetivo de este trabajo fue conocer su prevalencia en la provincia de Cádiz. Métodos: Se estudió el consumo del grupo terapéutico H03AA realizado en receta oficial por las unidades de Atención Primaria (AP) de Cádiz, durante el año 2012. La prevalencia se estimó mediante tres métodos: la Dosis Diaria Definida (DDD), la Dosis Diaria Prescrita (DDP) y el Registro Pacientes en Tratamiento (RPT). Los resultados se presentaron según sexo y edad con intervalos de confianza del 95%. Resultados: La prevalencia de HT durante 2012 en población mayor de 15 años de la provincia fue del 1,36% (IC95: 1,33%-1,38%) mediante DDD, del 2,60% (IC95: 2,54%-2,66%) mediante DDP y del 3,10% (IC95: 2,85%-2,93%) mediante RPT. La mediana de edad fue de 56 años (rango intercuartílico 43 a 68 años). La prevalencia (RPT) por sexo fue de 0,75% en hombres y 5,36% en mujeres [OR 7,26 (IC95: 7,02-7,52)], siendo del 9,35% la correspondiente a mujeres de 51 a 70 años. Conclusiones: El método de estimación por RPT demuestra ser una herramienta más válida que el método DDD para evaluar la prevalencia de HT. El HT muestra, en nuestra provincia una prevalencia elevada con mayor afectación del sexo femenino (AU)

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 (AU)

Filgrastim therapy in a child with neutropenia induced by linezolid.

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.