15 research outputs found
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
New insights into the genetic etiology of Alzheimer's disease and related dementias
Characterization of the genetic landscape of Alzheimer's disease (AD) and related dementias (ADD) provides a unique opportunity for a better understanding of the associated pathophysiological processes. We performed a two-stage genome-wide association study totaling 111,326 clinically diagnosed/'proxy' AD cases and 677,663 controls. We found 75 risk loci, of which 42 were new at the time of analysis. Pathway enrichment analyses confirmed the involvement of amyloid/tau pathways and highlighted microglia implication. Gene prioritization in the new loci identified 31 genes that were suggestive of new genetically associated processes, including the tumor necrosis factor alpha pathway through the linear ubiquitin chain assembly complex. We also built a new genetic risk score associated with the risk of future AD/dementia or progression from mild cognitive impairment to AD/dementia. The improvement in prediction led to a 1.6- to 1.9-fold increase in AD risk from the lowest to the highest decile, in addition to effects of age and the APOE ε4 allele
Handling of and Preferences for Available Dry Powder Inhaler Systems by Patients with Asthma and COPD
Handling of Diskus Dry Powder Inhaler in Chinese Chronic Obstructive Pulmonary Disease Patients
Diseño e implementación de unidades didácticas integradas: AICLE en acción
This paper addresses the design and implementation of Integrated Didactic Units (IDUs) within Higher Education following the CLIL (Content and Language Integrated Learning) approach. The design of a joint methodology for different content areas has allowed the teaching staff herein to implement different IDUs along the 2015/2016 academic year. The data collected on initial and final language level and contents from the joint and complementary work of two different content areas (Social Sciences and Engineering) has offered an interesting working framework which we consider suitable for an EHEA teaching innovation after the analysis and discussion of our results.Este trabajo desarrolla el diseño y la implementación de Unidades Didácticas Integradas (UDI) en el marco de la educación superior siguiendo el enfoque AICLE (Aprendizaje Integrado de Contenidos y Lenguas Extranjeras). El diseño y la implementación de una metodología conjunta ha permitido poner en práctica dichas UDI durante el curso 2015/2016 en diferentes ámbitos de contenido. Ello ha ofrecido datos relevantes sobre el nivel de lengua y contenidos que el alumnado ha adquirido. La integración de diferentes áreas en las dos ramas de conocimiento (Ciencias Sociales e Ingeniería) ha constituido un marco interesante y especialmente adecuado para la puesta en práctica de estas UDI en el marco de la Educación Superior Europea