Diagnosis features of pediatric Gaucher disease patients in the era of enzymatic therapy, a national-base study from the Spanish Registry of Gaucher Disease

Background: The enzymatic replacement therapy (ERT) availability for Gaucher disease (GD) has changed the landscape of the disease, several countries have screening programs. These actions have promoted the early diagnosis and avoided many complications in pediatric patients. In Spain ERT has been available since 1993 and 386 patients have been included in the Spanish Registry of Gaucher Disease (SpRGD). The aim of this study is to analyze the impact of ERT on the characteristics at time of diagnosis and initial complications in pediatric Gaucher disease patients. Aim: To analyze the impact of ERT on the characteristics at time of diagnosis and initial complications in pediatric Gaucher disease patients. Methods: A review of data in SpRGD from patients'' diagnosed before 18 years old was performed. The cohort was split according the year of diagnosis (=1994, cohort A; =1995, cohort B). Results: A total of 98 pediatric patients were included, GD1: 80, GD3: 18; mean age: 7.2 (0.17-16.5) years, 58 (59.2%) males and 40 (40.8%) females. Forty-five were diagnosed = 1994 and 53 = 1995. Genotype: N370S/N370S: 2 (2.0%), N370S/L444P: 27 (27.5%), N370S/other: 47 (48%), L444P/L444P: 7 (7.1%), L444P/D409H: 2 (2.0%), L444P/other: 3 (6.2%), other/other: 10 (10.2%). The mean age at diagnosis was earlier in patients diagnosed after 1995 (p < 0.001) and different between the subtypes, GD1: 8.2 (0.2-16.5) years and GD3: 2.8 (0.17-10.2) years (p < 0.001). There were more severe patients in the group diagnosed before 1994 (p = 0.045) carrying L444P (2), D409H (2), G377S (1), G195W (1) or the recombinant mutation. The patients'' diagnosed =1994 showed worse cytopenias, higher chance of bone vascular complications at diagnosis and previous spleen removal. The patients started ERT at a median time after diagnosis of 5.2 years [cohort A] and 1.6 years [cohort B] (p < 0.001). Conclusions: The early diagnosis of Gaucher disease in the era of ERT availability has permitted to reduce the incidence of severe and irreversible initial complication in pediatric patients, and this has permitted better development of these patients. This is the largest pediatric cohort from a national registry

Effect of incorrect use of dry powder inhalers on management of patients with asthma and COPD

SummaryBackgroundIncorrect usage of inhaler devices might have a major influence on the clinical effectiveness of the delivered drug. This issue is poorly addressed in management guidelines.MethodsThis article presents the results of a systematic literature review of studies evaluating incorrect use of established dry powder inhalers (DPIs) by patients with asthma or chronic obstructive pulmonary disease (COPD).ResultsOverall, we found that between 4% and 94% of patients, depending on the type of inhaler and method of assessment, do not use their inhalers correctly. The most common errors made included failure to exhale before actuation, failure to breath-hold after inhalation, incorrect positioning of the inhaler, incorrect rotation sequence, and failure to execute a forceful and deep inhalation. Inefficient DPI technique may lead to insufficient drug delivery and hence to insufficient lung deposition. As many as 25% of patients have never received verbal inhaler technique instruction, and for those that do, the quality and duration of instruction is not adequate and not reinforced by follow-up checks.ConclusionsThis review demonstrates that incorrect DPI technique with established DPIs is common among patients with asthma and COPD, and suggests that poor inhalation technique has detrimental consequences for clinical efficacy. Regular assessment and reinforcement of correct inhalation technique are considered by health professionals and caregivers to be an essential component of successful asthma management. Improvement of asthma and COPD management could be achieved by new DPIs that are easy to use correctly and are forgiving of poor inhalation technique, thus ensuring more successful drug delivery

CLIL in Action: Educational and Professional Interactions among Teachers

AICLE (Aprendizaje Integrado de Contenidos y Lenguas Extranjeras) es el enfoque oficial europeo para la educación bilingüe, auspiciado por la Comisión Europea y fomentado por una cantidad ingente de investigación e implementación en todos los niveles educativos. Sin embargo, AICLE necesita de más investigación en el aula e interacciones que ofrezcan datos que nos indiquen en qué contextos y bajo qué condiciones específicas las acciones educativas son o no eficaces. Es en esta línea (innovación educativa e interacción en el aula) en la que entendemos que la formación inicial del profesorado en el ámbito de la educación bilingüe ha de estar necesariamente ligada a la formación permanente del profesorado y a la praxis en el aula que proporciona el profesorado en ejercicio. El objetivo esencial de este artículo consiste en establecer el vínculo entre profesorado universitario, profesorado en ejercicio, profesorado en formación (a tres niveles: Grado, Máster y Doctorado) y los CEP de Córdoba y provincia para diseñar una estructura de formación recíproca y cuidadosamente planificada, que contribuya a mejorar la calidad de la educación bilingüe a través del intercambio de prácticas de innovación educativa que fomenten la interacción y el aprendizaje en acción.CLIL (Content and Foreign Language Integrated Learning) is the official European approach to bilingual education, sponsored by the European Commission and fostered by an enormous amount of research and implementation at all levels of education. However, CLIL needs more research in the classroom and interactions which provide data on what contexts and under what specific conditions educational actions are or are not effective. It is in this line (educational innovation and interaction in the classroom) that we understand that the initial training of teachers in the field of bilingual education must necessarily be linked to the ongoing training of teachers and to the praxis in the classroom provided by practising teachers. The essential objective of this article is to establish the link between university teachers, practising teachers, teachers in training (at three levels: Bachelor, Master and Doctorate) and the CEPs of Cordoba and province to design a carefully planned reciprocal training structure that contributes to improving the quality of bilingual education through the exchange of educational innovation practices that foster interaction and learning in action