Quistes óseos de localizacion inusual como causa de lumbalgia crónica en adultos / Bone cyst of unusual location as a cause of chronic back pain in adults

Se presenta el caso de un paciente con quistes en el hueso iliaco como causa atípica de lumbalgia crónica a la cual se puede enfrentar el reumatólogo, y se hará una revisión de la literatura sobre los tipos de quistes óseos y sus diagnósticos diferenciales. También se hará mención de sus opciones de tratamiento.

The case of a patient with cysts in the iliac bone is presented as an atypical cause of chronic low back pain that the rheumatologist may face, and a review of the literature on the types of bone cysts and their differential diagnoses will be made. Mention will also be made of your treatment options.

Speech metrics, general disability, brain imaging and quality of life in multiple sclerosis.

BACKGROUND AND PURPOSE: Objective measurement of speech has shown promising results to monitor disease state in multiple sclerosis. In this study, we characterize the relationship between disease severity and speech metrics through perceptual (listener based) and objective acoustic analysis. We further look at deviations of acoustic metrics in people with no perceivable dysarthria. METHODS: Correlations and regression were calculated between speech measurements and disability scores, brain volume, lesion load and quality of life. Speech measurements were further compared between three subgroups of increasing overall neurological disability: mild (as rated by the Expanded Disability Status Scale ≤2.5), moderate (≥3 and ≤5.5) and severe (≥6). RESULTS: Clinical speech impairment occurred majorly in people with severe disability. An experimental acoustic composite score differentiated mild from moderate (P < 0.001) and moderate from severe subgroups (P = 0.003), and correlated with overall neurological disability (r = 0.6, P < 0.001), quality of life (r = 0.5, P < 0.001), white matter volume (r = 0.3, P = 0.007) and lesion load (r = 0.3, P = 0.008). Acoustic metrics also correlated with disability scores in people with no perceivable dysarthria. CONCLUSIONS: Acoustic analysis offers a valuable insight into the development of speech impairment in multiple sclerosis. These results highlight the potential of automated analysis of speech to assist in monitoring disease progression and treatment response.

Review: Strategies for enteric methane mitigation in cattle fed tropical forages.

Methane (CH4) is a greenhouse gas (GHG) produced and released by eructation to the atmosphere in large volumes by ruminants. Enteric CH4 contributes significantly to global GHG emissions arising from animal agriculture. It has been contended that tropical grasses produce higher emissions of enteric CH4 than temperate grasses, when they are fed to ruminants. A number of experiments have been performed in respiration chambers and head-boxes to assess the enteric CH4 mitigation potential of foliage and pods of tropical plants, as well as nitrates (NO3-) and vegetable oils in practical rations for cattle. On the basis of individual determinations of enteric CH4 carried out in respiration chambers, the average CH4 yield for cattle fed low-quality tropical grasses (>70% ration DM) was 17.0 g CH4/kg DM intake. Results showed that when foliage and ground pods of tropical trees and shrubs were incorporated in cattle rations, methane yield (g CH4/kg DM intake) was decreased by 10% to 25%, depending on plant species and level of intake of the ration. Incorporation of nitrates and vegetable oils in the ration decreased enteric CH4 yield by ∼6% to ∼20%, respectively. Condensed tannins, saponins and starch contained in foliages, pods and seeds of tropical trees and shrubs, as well as nitrates and vegetable oils, can be fed to cattle to mitigate enteric CH4 emissions under smallholder conditions. Strategies for enteric CH4 mitigation in cattle grazing low-quality tropical forages can effectively increase productivity while decreasing enteric CH4 emissions in absolute terms and per unit of product (e.g. meat, milk), thus reducing the contribution of ruminants to GHG emissions and therefore to climate change.

Expresión de calreticulina en placenta canina / Calreticulin expression in canine placenta

La placenta es un anexo embrionario de los mamíferos que tiene por función principal el intercambio de nutrientes y gases y proteger al concepto de un potencial daño inmune provocado por diferencias alogénicas en los Complejos Principales de Histocompatibilidad paternos. Se han descrito diversas proteínas asociadas a su función, siendo Calreticulina una de ellas. Si bien existen estudios de la presencia de Calreticulina en placenta humana, no existen reportes de esta proteína en la placenta canina. Se obtuvieron muestras de placenta canina de las que se extrajo el contenido proteico total y se determinó la presencia de Calreticulina por western blot e inmunohistoquímica. Los resultados mostraron presencia de Calreticulina en placenta canina con un peso molecular aparente de 60 kDa, concordante con lo descrito para la molécula por otros autores. El análisis inmunohistoquímico mostró que Calreticulina canina está presente principalmente en el trofoblasto de las vellosidades, no existiendo diferencias en cuanto a su localización al compararla con placenta humana, pese a sus diferencias morfológicas e histológicas. Esta información permitirá establecer un protocolo estandarizado de extracción de Calreticulina desde placenta, así como orientar acerca de los posibles roles de esta molécula en la placenta.

The placenta is an embryonic organ present in mammals, whose main functions are the exchange of nutrients and gases and to protect the fetus from potential immune damage mediated by paternal and maternal allogeneic differences in the Major Histocompatibility Complex. Several proteins associated with its function have been described, being Calreticulin one of them. Although there are studies on the presence of Calreticulin in human placenta, there are no reports of this protein in canine placenta. Samples from canine placenta were obtained, proteins extracted and Calreticulin was subsequently detected by western blot and immunohistochemistry. The results showed the presence of Calreticulin in canine placenta with an apparent molecular weight of 60 kDa, in agreement with the results from other authors. The immunohistochemical analysis showed that canine Calreticulin is present mainly in the trophoblast of the villi, and there is no difference in its localization when compared with a blood-filled placenta such as human one, despite its morphological and histological differences. We also propose a standardized protocol for the extraction of Calreticulin from placenta, given its abundant expression in this organ. Future studies are aimed at elucidating possible roles of this protein in placenta.

Geographic distribution of chronic obstructive pulmonary disease prevalence in Africa, Asia and Australasia.

OBJECTIVE: To visualise spatial data on chronic obstructive pulmonary disease (COPD) prevalence in Africa, Asia and Australasia using a Geographic Information System (GIS) inverse distance weighted (IDW) interpolation technique.DESIGN: Prevalence rates from population surveys on individuals aged ≥40, with spirometry-confirmed COPD, were searched systematically. The prevalence observed in 59 selected surveys and the geographic coordinates of the places where they were conducted informed a GIS computer programme. The prevalence was represented by an ascending chromatic scale (blue-green-yellow-orange-brown-red) in the GIS maps.RESULTS: IDW-interpolation GIS maps were obtained of all the geographic areas investigated, and even from regions lacking data. Areas of high/very high prevalence were found in: Southern Africa and in most of the Central and Eastern Africa regions; in practically all of Central Asia; in the western regions of Southern Asia; in the southern regions of the East European Plain and the West Siberian Plain of Northern Asia; and in the Malay Archipelago. Intermediate prevalence predominated in Oceania and in most of the other regions of Africa and Asia.CONCLUSION: Despite some biases inherent to the interpolation method used in the present study, our approach provided an understandable visual perspective of the COPD prevalence distribution in these geographic regions.

Thesaurus for off-label indications for systemic antifungal agents.

OBJECTIVES: Following the removal of temporary treatment protocol procedures, we developed a thesaurus for off-label indications for systemic antifungals at our facility to update clinical practices and to control off-label prescriptions. MATERIALS AND METHODS: Clinical practice guidelines and literature data were analyzed. This work was part of an antifungal stewardship program. RESULTS: Off-label wording (prophylaxis, preemptive, empirical, curative) and corresponding antifungals and references were validated by the multidisciplinary group for antifungal agents under the aegis of the Commission for the use of drugs and sterile medical devices and of the anti-infective committee. CONCLUSION: Considering the complexity of invasive fungal infection management, this thesaurus needs to be shared and used as a helping tool to review off-label situations.

Variabilidad de la práctica clínica para la enfermedad pulmonar obstructiva crónica en consultas externas / Variability in clinical practice for chronic obstructive pulmonary disease in outpatient clinics

OBJETIVOS: hasta el momento no existen trabajos de auditorías clínicas que evalúen la práctica clínica en la enfermedad pulmonar obstructiva crónica (EPOC) en el ámbito de consultas externas. El presente trabajo es un primer proyecto piloto que tiene por objetivo evaluar la variabilidad de la práctica clínica para la EPOC en este ámbito asistencial. MÉTODO: proyecto piloto de auditoría de historias clínicas llevada a cabo en consultas externas de Neumología en 9 hospitales públicos de Andalucía entre octubre 2013 y septiembre 2014. El objetivo era auditar 80 casos por centro, repartidos durante los 4 trimestres del año. La información se recogió mediante cuestionario estandarizado con 182 variables. Los datos se describen con medias y rangos interhospitalarios para evaluar la variabilidad. RESULTADOS: durante el año de estudio se analizaron 621 historias. Los pacientes eran mayoritariamente hombres, en la séptima década de la vida, con un porcentaje de fumadores activos del 26,2%, un considerable número de comorbilidades y mayoritariamente del ámbito urbano. Los datos indican que la atención sanitaria es en general correcta como promedio, pero indicando áreas de mejora en algunos puntos y una considerable variabilidad entre centros con diferencias significativas (p <0,001) para los cambios intercentro de la mayoría de las variables. CONCLUSIONES: la atención sanitaria al paciente con EPOC en consultas externas de Neumología en Andalucía muestra una considerable variabilidad que probablemente no pueda ser explicada sólo por la condición clínica del paciente. Estudios futuros deberán dilucidar qué factores inciden en esta variabilidad

OBJECTIVES: To date, there have been no clinical audits that evaluate clinical practice for chronic obstructive pulmonary disease (COPD) in outpatient clinics. This study is the first pilot project that aims to evaluate the variability in clinical practice for COPD in this healthcare setting. METHOD: A medical history audit pilot project carried out in outpatient pulmonology clinics in 9 public hospitals in Andalusia from October 2013 to September 2014. The objective was to audit 80 cases per center, distributed across the 4 quarters of the year. Information was collected using a standardized questionnaire with 182 variables. Data is described as averages and inter-hospital ranges to evaluate variability. RESULTS: 621 histories were analyzed during the year of the study. Patients were primarily male, in the seventh decade of life, 26.2% were active smokers, there were a considerable number of comorbidities and subjects lived in mainly urban areas. Data indicates that healthcare is generally appropriate on average, but there are areas of improvement in some points and there is a considerable variability between centers with significant differences (p <0.001) for inter-center changes for the majority of variables. CONCLUSIONS: Healthcare for patients with COPD in outpatient pulmonology clinics in Andalusia shows considerable variability that likely cannot be explained solely by the patient's clinical condition. Future studies must clarify what factors come into play in this variability

Evaluación positiva de medicamentos: diciembre 2017, enero y febrero 2018 / Positive assessment of drugs: December 2017, January and February 2018

Se reseñan los medicamentos evaluados y con dictamen positivo por comisión de expertos de la Agencia Española de Medicamentos y Productos Sanitarios o de la Agencia Europea del Medicamento hechos públicos en diciembre de 2017, enero y febrero de 2018, y considerados de mayor interés para el profesional sanitario. Se trata de opiniones técnicas positivas que son previas a la autorización y puesta en el mercado del medicamento

The drugs assessed by the Spanish Agency for Medicines and Health Products or European Medicines Agency made public in December of 2017, January and February of 2018, and considered of interest to the healthcare professional, are reviewed. These are positive technical reports prior to the authorization and placing on the market of the product

Abnormal pulmonary function tests predict the development of radiation-induced pneumonitis in advanced non-small cell lung Cancer.

BACKGROUND: Radiation pneumonitis (RP) is a frequent complication of concurrent chemoradiotherapy (CCRT) and is associated with severe symptoms that decrease quality of life and might result in pulmonary fibrosis or death. The aim of this study is to identify whether pulmonary function test (PFT) abnormalities may predict RP in non-small cell lung cancer (NSCLC) patients. METHODS: A prospective multi-institutional study was conducted with locally advanced and oligometastatic NSCLC patients. All participants were evaluated at baseline, end of CCRT, week 6, 12, 24, and 48 post-CCRT. They completed forced spirometry with a bronchodilator, body plethysmography, impulse oscillometry, carbon monoxide diffusing capacity (DLCO), molar mass of CO2, six-minute walk test and exhaled fraction of nitric oxide (FeNO). Radiation pneumonitis was assessed with RTOG and CTCAE. The protocol was registered in www.clinicaltrials.gov (NCT01580579), registered April 19, 2012. RESULTS: Fifty-two patients were enrolled; 37 completed one-year follow-up. RP ≥ Grade 2 was present in 11/37 (29%) for RTOG and 15/37 (40%) for CTCAE. Factors associated with RP were age over 60 years and hypofractionated dose. PFT abnormalities at baseline that correlated with the development of RP included lower forced expiratory volume in one second after bronchodilator (p = 0.02), DLCO (p = 0.02) and FeNO (p = 0.04). All PFT results decreased after CCRT and did not return to basal values at follow-up. CONCLUSIONS: FEV1, DLCO and FeNO prior to CCRT predict the development of RP in NSCLC. This study suggests that all patients under CCRT should be assessed by PFT to identify high-risk patients for close follow-up and early treatment.

Influencia de las comorbilidades en la mortalidad de pacientes con EPOC estables / The influence of comorbidities in the mortality of patients with stable COPD

Objetivo: Estudiar la relación entre las comorbilidades y la mortalidad por cualquier causa en pacientes con EPOC en fase estable, en nuestro ámbito geográfico. Material y métodos: Estudio observacional prospectivo longitudinal multicéntrico de una cohorte de pacientes con EPOC en situación estable. Se recogieron datos demográficos, funcionales respiratorios, índice de comorbilidad de Charlson y escala hospitalaria de ansiedad y depresión. Los pacientes fueron seguidos durante 3 años. En el caso de fallecimiento se indagó para determinar la causa de la muerte. Resultados: Se estudiaron 138 pacientes con una edad media de 66,3 ± 10,3 años y FEV1 medio de 51,3 ± 16,9%. El índice de Charlson medio fue de 4,66 ± 1,57. Presentaban depresión el 17,2% y ansiedad el 12,7%. Fallecieron 13 (9,5%) pacientes, 5 de cáncer de pulmón, 5 por agudización de la EPOC, 1 por carcinoma de colon, otro por infarto agudo de miocardio (IAM) y otro por insuficiencia cardiaca congestiva (ICC). En el análisis multivariado el número de comorbilidades (HR 1,926; IC 95%: 1,384 - 2,680) y la existencia de tratamiento ansiolítico (HR 4,072; IC 95%: 1,106 - 14,987) se asociaron a mayor mortalidad. El análisis mediante curvas de supervivencia de KaplanMeier, mostró que los pacientes con 2 o más comorbilidades, además de la EPOC, presentaban mayor mortalidad que los que tenían una o ninguna (35,52 ± 0,2 vs 33 ± 1,3 meses, p = 0,039). Conclusiones: La prevalencia de comorbilidades en pacientes con EPOC estable fue elevada. La mortalidad de estos pacientes se relacionó con el número de comorbilidades y el tratamiento ansiolítico. La mortalidad fue superior en aquellos pacientes con 2 o más comorbilidades

Objective: to assess the relationship between comorbidities and all-cause mortality in stable chronic obstructive pulmonary disease (COPD) patients, in our geographic area. Methods: Prospective, multicenter, longitudinal study of patients with stable COPD. We recorded demographic characteristics, respiratory functional tests, Charlson comorbidity index and hospital anxiety and depression scale. Patients were followed up for 3 years. In the case of death it was investigated to determine the real cause of death. Results: 138 patients were studied with a mean age of 66.3 ± 10.3 years and mean FEV1 of 51.3 ± 16.9%. The mean Charlson index was 4.66 ± 1.57. 17.2% had depression and 12.7% anxiety. Thirteen (9.5%) patients died, 5 of lung cancer, 5 COPD exacerbation, 1 colon cancer, another for acute myocardial infarction (AMI) and another one for congestive heart failure (CHF). In the multivariate analysis the number of comorbidities (HR 1.926; IC 95%: 1.384 - 2.680) and anxiolytic treatment (HR 4.072; IC 95%: 1.106 - 14.987) showed relationship with mortality. Kaplan-Meier suvival plots showed that patients with 2 o more comorbilities, in addition to COPD, have higher mortality than patients with 1 or no comorbidity (35.52 ± 0.2 vs 33 ± 1.3 months, p = 0,039). Conclusions: The prevalence of comorbidities in patients with stable COPD was high. Mortality in these patients is related to the number of comorbidities and anxiolytic treatment. Mortality was higher in patients with 2 o more comorbidilites

Algoritmo de retirada de corticoides inhalados en la EPOC / No disponible

No disponible

Evaluación positiva de medicamentos: diciembre 2016-enero/febrero 2017 / Possitive assessment of drugs: December 2016, January and February 2017

Se reseñan los medicamentos evaluados y con dictamen positivo por comisión de expertos de la Agencia Española de Medicamentos y Productos Sanitarios o de la Agencia Europea del Medicamento hechos públicos en diciembre de 2016, enero y febrero de 2017, y considerados de mayor interés para el profesional sanitario. Se trata de opiniones técnicas positivas que son previas a la autorización y puesta en el mercado del medicamento (AU)

The drugs assessed by the Spanish Agency for Medicines and Health Products or European Medicines Agency made public in December of 2016, January and February of 2017, and considered of interest to the health care professional, are reviewed. These are positive technical reports prior to the authorization and placing of the product on the market (AU)

Documento de recomendaciones para el diagnóstico y tratamiento de la enfermedad pulmonar obstructiva crónica en Andalucía / No disponible

La Enfermedad Pulmonar Obstructiva Crónica (EPOC) se define como una enfermedad respiratoria, caracterizada esencialmente por una limitación crónica al flujo aéreo, que no es totalmente reversible y que, en nuestro medio, se relaciona fundamentalmente con el consumo de tabaco. La EPOC se caracteriza también por la presencia de agudizaciones y comorbilidades que contribuyen a la gravedad en algunos pacientes. La EPOC es una enfermedad muy prevalente y en España afecta al 10,2% de la población entre los 40 y 80 años, con un gran impacto en la calidad de vida de pacientes y cuidadores y un importante consumo de recursos económicos y sanitarios. En la actualidad, la EPOC es la cuarta causa de muerte a nivel mundial, por detrás de la cardiopatía isquémica, los accidentes cerebrovasculares y las infecciones de las vías respiratorias inferiores. El diagnóstico de la EPOC se basa en la exposición a un factor de riesgo, habitualmente el tabaco (≥10 paquetes-año), en un paciente mayor de 35 años en presencia de síntomas (disnea, tos y/o expectoración) y confirmación del patrón obstructivo en la espirometría tras broncodilatador con una relación FEV1 /FVC < 0,70 en fase estable de la enfermedad. Pese a todos los esfuerzos realizados, la EPOC sigue teniendo un elevado infradiagnóstico (73%) que es mayor en mujeres que en hombres. La EPOC es una enfermedad muy heterogénea, por lo que es necesario realizar una correcta caracterización clínica que nos permita identificar grupos homogéneos de pacientes que se puedan beneficiar de una intervención terapéutica específica e incluso personalizada. Las sociedades científicas aquí representadas han trabajado para elaborar unas recomendaciones, basadas en la evidencia científica actual, para el diagnóstico y tratamiento de la EPOC en Atención Primaria y Neumología en Andalucía, con una visión adaptada a la práctica clínica en la vida real

No disponible

An assessesment of telephone assistance systems for caregivers of patients with Alzheimer's disease. / Evaluación de la asistencia telefónica a demanda en cuidadores de pacientes con enfermedad de Alzheimer.

INTRODUCTION: Telephone assistance is a common practice in neurology, although there are only a few studies about this type of healthcare. We have evaluated a Telephone Assistance System (TAS) for caregivers of patients with Alzheimer's disease (AD) from 2 points of view: financially and according to the level of satisfaction of the caregiver. PATIENTS AND METHODS: 97 patients with a diagnosis of AD according to NINCDS-ADRDA criteria and their 97 informal caregivers were selected. We studied cost differences between on-site assistance and telephone assistance (TAS) for 12 months. We used a self-administered questionnaire to assess the level of satisfaction of caregivers at the end of the study period. RESULTS: TAS savings amounted to 80.05 ± 27.07 euros per user. 73.6% of the caregivers consider TAS a better or much better system than on-site assistance, while only 2.6% of the caregivers considered TAS a worse or much worse system than on-site assistance. CONCLUSIONS: Telephone assistance systems are an efficient healthcare resource for monitoring patients with AD in neurology departments. Furthermore, the level of user satisfaction was high. We therefore consider that telephone assistance service should be offered by healthcare services.

Health-related quality of life in caregivers of patients with Alzheimer's disease. / Calidad de vida relacionada con la salud en cuidadores de pacientes con enfermedad de Alzheimer.

INTRODUCTION: Informal caregivers of patients with Alzheimer's disease (AD) have a poor health-related quality of life (HRQOL). HRQOL is an increasingly common user-focused outcome measure. We have evaluated HRQOL longitudinally in caregivers of AD patients at baseline and at 12 months. METHODS: Ninety-seven patients diagnosed with AD according to the NINCDS-ADRDA (National Institute of Neurological and Communicative Disorders and Stroke, and Alzheimer's Disease and Related Disorders Association) and their 97 respective primary caregivers were included in the study. We analysed the following data at the baseline visit: sociodemographic data of both patients and carers, patients' clinical variables, and data related to the healthcare provided to patients by carers. HRQOL of caregivers was measured with the SF-36 questionnaire at baseline and 12 months later. RESULTS: At 12 months, primary caregivers scored lower in the 8 subscales of the SF-36 questionnaire; differences were statistically significant in all dimensions except for 'physical function' and 'social function'. Baseline scores in our sample were lower than those of the general population. 'Vitality' is the dimension that presented the lowest scores. CONCLUSION: HRQOL in caregivers of patients with Alzheimer's disease deteriorates over time and is poorer than that of the age- and sex-matched general population.

Evaluación positiva de medicamentos: diciembre 2015, enero y febrero 2016 / Positive assessment of drugs: December 2015, January and February 2016

Se reseñan los medicamentos evaluados y con dictamen positivo por comisión de expertos de la Agencia Española de Medicamentos y Productos Sanitarios o de la Agencia Europea del Medicamento hecho públicos en diciembre de 2015, enero y febrero de 2016, y considerados de mayor interés para el profesional sanitario. Se trata de opiniones técnicas positivas que son previas a la autorización y puesta en el mercado del medicamento

The drugs assessed by the Spanish Agency for Medicines and Health Products or European Medicines Agency made public in December of 2015, January and February of 2016, and considered of interest to the healthcare professional, are reviewed. These are positive technical reports prior to the authorization and placing on the market of the product

Malignant transformation of a tracheal chondroma: The second reported case and review of the literature.

Tracheal tumors are rare, representing only 0.2% of the respiratory tract malignancies. Chondrosarcoma arising in the trachea was first described in 1959 by Jackson et al. and since then only 20 cases have been described. We report the second documented case of malignant transformation from an endotracheal chondroma, in a 75-year-old woman, and review the literature.

Monitorización del tratamiento antibiótico nebulizado en bronquiectasias no fibrosis quística colonizadas por Pseudomonas aeruginosa. Estudio multicéntrico / Monitoring nebulized antibiotic treatment in non-cystic fibrosis bronchiectasis colonized by Pseudomonas aeruginosa: A multi-centerstudy

OBJETIVOS: 1- Valorar la adherencia al tratamiento nebulizado con colistimetato de sodio-Promixín® con dispositivo Ineb® en pacientes con bronquiectasias (BQ) no fibrosis quística (FQ) colonizadas por Pseudomonas aeruginosa; 2- Identificar un perfil de paciente incumplidor. MÉTODO: Estudio multicéntrico, observacional, prospectivo, de corte transversal, de una cohorte de adultos tratados al menos durante 6 meses con colistimetato de sodio (Promixin®) administrado con el nebulizador Ineb®. Se obtuvieron los registros del tratamiento nebulizado (plataforma informática Insight®), datos de función pulmonar, cultivos de esputo y número de agudizaciones antes y después del tratamiento. Se analizó la adherencia global, el manejo del nebulizador y la adherencia real. Se define a los pacientes con mala adherencia terapéutica como aquellos con una adherencia global o real ≤80%. RESULTADOS: La muestra inicial fue de 126 pacientes, considerándose no válidos para su análisis 20 de ellos, siendo seleccionados 106 pacientes con BQ no FQ, 47 de causa postinfecciosa (44,3%), 13 EPOC (12,3%), 12 discinesia ciliar (11,3%), 17 otras causas(16%) y 17 idiopáticas (16%). La edad media fue de 64,0 ± 14,6 años, 57 varones (53,8%) y 49 mujeres (46,2%), 61 procedentes de hospitales terciarios (57,5%) y 45 de comarcales (42,5%). La adherencia global fue del 86,7 ± 19,3% y en el 73,6% de los casos ≥80%. El 96,6 ± 7,8% de los pacientes manejaron adecuadamente el nebulizador, con unos tiempos de nebulización de 6,3 ± 3,4 minutos. La adherencia real fue del 84,4 ± 20,2% y en el 75,5% de los casos ≥80%. No hubo diferencias en cuanto al sexo, edad, función pulmonar, causa de las BQ no FQ y exacerbaciones previas para ninguna de estas variables. CONCLUSIÓN: En nuestra población el manejo del nebulizador y la adherencia, global y real, es muy buena. El escaso número de pacientes no adherentes no nos ha permitido definir el perfil del incumplidor

OBJECTIVE: 1) Assess adherence to nebulized treatment with colistimethate sodium-Promixin® using an Ineb® nebulizer in patients with bronchiectasis (BQ) but without cystic fibrosis (CF) colonized by Pseudomonas aeruginosa; 2) Identify a noncompliant patient profile. METHOD: A multi-center, observational, prospective, transversal study, with a cohort of adults treated for at least six months with colistimethate sodium (Promixin®) administered with an Ineb® nebulizer. Registers of nebulized treatment were obtained (Insight® IT platform), pulmonary lung function, sputum culture and number of exacerbations prior to and after the treatment. Global adherence was analyzed, as well as handling the nebulizer and real adherence. Patients with poor therapeutic adherence were defined as those with a global or real adherence of ≤80%. RESULTS: The initial sample included 126 patients, 20 of which were considered not valid for the analysis; 106 patients with BQ non-CF, 47 were post-infectious causes(44.3%), 13 COPD (12.3%), 12 ciliary dyskinesia(11.3%), 17 other causes (16%) and 17 idiopathic (16%). The mean age was 64.0 ± 14.6 years; 57 males (53.8%) and 49 females (46.2%), 61 were from tertiary hospitals (57.5%) and 45 from local hospitals (42.5%). Global adherence was 86.7 ± 19.3% and in 73.6% of the cases ≥80%. 96.6 ± 7.8% of the patients adequately handled the nebulizer, with nebulization times of 6.3 ± 3.4 minutes. Real adherence was 84.4 ± 20.2% and in 75.5% of the cases ≥80%. No differences were seen in terms of sex, age, pulmonary function, cause of BQ non-CF and prior exacerbations for none of these variables. CONCLUSION: In our population, handling the nebulizer and adherence, both global and real, is very good. The limited number of patients who failed to adhere has hindered our defining a non-compliant profile

A Mayan founder mutation is a common cause of deafness in Guatemala.

Over 5% of the world's population has varying degrees of hearing loss. Mutations in GJB2 are the most common cause of autosomal recessive non-syndromic hearing loss (ARNHL) in many populations. The frequency and type of mutations are influenced by ethnicity. Guatemala is a multi-ethnic country with four major populations: Maya, Ladino, Xinca, and Garifuna. To determine the mutation profile of GJB2 in a ARNHL population from Guatemala, we sequenced both exons of GJB2 in 133 unrelated families. A total of six pathogenic variants were detected. The most frequent pathogenic variant is c.131G>A (p.Trp44*) detected in 21 of 266 alleles. We show that c.131G>A is associated with a conserved haplotype in Guatemala suggesting a single founder. The majority of Mayan population lives in the west region of the country from where all c.131G>A carriers originated. Further analysis of genome-wide variation of individuals carrying the c.131G>A mutation compared with those of Native American, European, and African populations shows a close match with the Mayan population.