Interleukin-4 (IL4) and Interleukin-4 receptor (IL4RA) polymorphisms in asthma: a case control study

BACKGROUND: IL4/IL4RA pathway plays an important role in atopy and asthma. Different polymorphisms in IL4 and IL4RA genes have been described. Particularly, -33C>TIL4 and 576Q>RIL4RA SNPs have been independently associated to atopy and asthma. The purpose of this study was to analyse these polymorphisms in a population of patients with a well-characterized asthma phenotype. METHODS: A total of 212 unrelated Caucasian individuals, 133 patients with asthma and 79 healthy subjects without symptoms or history of asthma or atopy and with negative skin prick tests were recruited. Lung function was measured by spirometry and asthma was specialist physician-diagnosed according to the ATS (American Thoracic Society) criteria and classified following the GINA (Global Initiative for Asthma) guidelines. Skin prick tests were performed according to EAACI recommendations. -33C>TIL4 was studied with TaqMan assay and 576Q>RIL4RA by PCR-RFLP technique. Hardy-Weinberg equilibrium was analysed in all groups. Dichotomous variables were analysed using χ(2), Fisher exact test, Monte Carlo simulation test and odds ratio test. To model the effects of multiple covariates logistic regression was used. RESULTS: No statistically significant differences between the group of patients with asthma and the controls were found when the allele and genotype distribution of -33C>TIL4 and 576Q>RIL4RA polymorphisms were compared. However, the T allele of the -33C>TIL4 SNP was more frequent in patients with persistent asthma. Multivariate analysis adjusted for age and sex confirmed that carriers of allele T had an increased risk of persistent asthma (OR:2.77, 95%CI:1.18–6.49; p = 0.019). Analysis of combination of polymorphisms showed that patients carrying both the T allele of -33C>TIL4 and the A allele of 576Q>RIL4RA had an increased risk of asthma. This association was particularly observed in persistent asthma [Fisher's p value = 0.0021, Monte Carlo p value (after 10(4 )simulations) = 0.0016, OR:3.39; 95% CI:1.50–7.66]. CONCLUSION: Our results show a trend of association between the genetic combination of the T allele of -33C>TIL4 and the A allele of 576Q>RIL4RA with asthma. This genetic variant was more frequently observed in patients with persistent asthma. As long as this study was performed in a small population, further studies in other populations are needed to confirm these results

Molecular Analysis of Activation-Induced Cytidine Deaminase Gene in Immunoglobulin-E Deficient Patients

Understanding how class switch recombination (CSR) is regulated to produce immunoglobulin E (IgE) has become fundamental because of the dramatic increase in the prevalence of IgE-mediated hypersensitivity reactions. CSR requires the induction of the enzyme AICDA in B cells. Mutations in AICDA have been linked to Hyper-IgM syndrome (HIGM2), which shows absence of switching to IgE as well as to IgG and IgA. Although isolated IgE deficiency is a rare entity, here we show some individuals with normal serum IgM, IgG, and IgA levels that had undetectable total serum IgE levels. We have analyzed the AICDA gene in these individuals to determine if there are mutations in AICDA that could lead to selective IgE deficiency. Conformational sensitive gel electrophoresis (CSGE) and sequencing analysis of AICDA coding sequences demonstrated sequence heterogeneity due to 5923A/G and 7888C/T polymorphisms, but did not reveal any novel mutation that might explain the selective IgE deficit

Molecular Analysis of Activation-Induced Cytidine Deaminase Gene in Immunoglobulin-E Deficient Patients

[EN]Understanding how class switch recombination (CSR) is regulated to produce immunoglobulin E (IgE) has become fundamental because of the dramatic increase in the prevalence of IgE-mediated hypersensitivity reactions. CSR requires the induction of the enzyme AICDA in B cells. Mutations in AICDA have been linked to Hyper-IgM syndrome (HIGM2), which shows absence of switching to IgE as well as to IgG and IgA. Although isolated IgE deficiency is a rare entity, here we show some individuals with normal serum IgM, IgG, and IgA levels that had undetectable total serum IgE levels. We have analyzed the AICDA gene in these individuals to determine if there are mutations in AICDA that could lead to selective IgE deficiency. Conformational sensitive gel electrophoresis (CSGE) and sequencing analysis of AICDA coding sequences demonstrated sequence heterogeneity due to 5923A/G and 7888C/T polymorphisms, but did not reveal any novel mutation that might explain the selective IgE deficit

Implementación del aprendizaje colaborativo utilizando la herramienta Nearpod en las clases prácticas de Alergología

Memoria ID-144. Ayudas de la Universidad de Salamanca para la innovación docente, curso 2019-2020.[ES]Nearpod es una herramienta digital que permite la interacción profesor-alumno mediante dispositivo móviles, utilizando la conexión a internet, y posibilita la inserción de actividades en las presentaciones de contenidos. El objetivo general es mejorar el proceso de enseñanza aprendizaje en la docencia práctica de la asignatura de Alergologí

Empleo de Kahoot! como herramienta de gamificación en la docencia de la asignatura de alergología en el Grado de Medicina

Memoria ID-0159. Ayudas de la Universidad de Salamanca para la innovación docente, curso 2017-2018

Angioedema Due to Acquired Deficiency of C1-Inhibitor: A Cohort Study in Spain and a Comparison With Other Series

[Background] Data on acquired angioedema due to C1-inhibitor deficiency (C1-INH-AAE) from 4 European countries (France, Italy, Germany, and Hungary) were recently published.[Objective] To report data from a group of 50 patients with acquired C1-INH deficiency from Spain, of whom 46 had angioedema, and compare them with other European series.[Methods] We performed a retrospective observational study of 46 patients with C1-INH-AAE and 4 asymptomatic patients. Clinical and biological characteristics and associated diseases were assessed and compared with other European series.[Results] Women accounted for 73.9% of cases. The prevalence of C1-INH-AAE related to hereditary forms was 1/10.1. Overall, 8.7% patients were aged <40 years. Diagnostic delay was 1.1 years. Angioedema mainly affected the face (91.3%), followed by the oropharynx (63%), extremities (50%), and abdomen (37%). Only 1 patient underwent orotracheal intubation. Erythema marginatum was present in 1 patient. A hematologic disorder was recorded in 50% of patients. Angioedema preceded all benign conditions, mostly monoclonal gammopathy of undetermined significance, but appeared very close to or after malignant hematologic diseases (median, 2.2 and 0.29 years). Autoimmune diseases were associated in 50% (autoimmune thyroiditis, 21.5%; systemic lupus erythematosus, 10.9%). Half of them coexisted with hematologic disorders. Anti-C1-INH antibodies were found in 67% of tested patients and were not related to the associated disease. Long-term prophylaxis was necessary in 52.2%, most of whom responded to tranexamic acid.[Conclusions] This study emphasizes the possibility of C1-INH-AAE in patients younger than 40 and in autoimmune diseases other than systemic lupus erythematosus such as autoimmune thyroiditis.Peer reviewe

Stories in a transmedia universe: The Beatles Anthology project

This article discusses The Beatles Anthology (1995-2000) as an example of symbolic creativity, transmedia storytelling and memory project. The study is focused from social communication history and narrative interpretation perspectives. The paper also proposes a comparative reflection on transmediation like a historical sequence where we can understand the music and iconic work of the British group. Finally, analyzes t h e re s p o n s e s f rom d i f f e re n t interpretative communities

Historias en el universo transmedia: El proyecto The Beatles Anthology

El presente estudio aborda algunos aspectos del proyecto The Beatles Anthology (1995-2000) como ejemplo de creatividad simbólica y propuesta transmedia de memoria, mediante una perspectiva propia de la historia de la comunicación social y la interpretación narrativa. Se propone un enfoque comparado, que sitúa The Beatles Anthology en una secuencia histórica más amplia sobre la transmediación de la obra musical e icónica del grupo británico. Finalmente, aborda las respuestas suscitadas desde diversas comunidades interpretativas

Narrativizando la historia: un enfoque interdisciplinar aplicado al relato televisivo

Is it possible to transmit historical content while competing during prime time and on a television channel directed to a general audience? Is it also possible to attract the attention of a grass-roots audience? This critical commentary establishes different keys, both theoretical and methodological, for assessing the television program known as Algo habrán hecho (They Must Have Done Something Right) (on Argentine history).The authors believe this format brings together the main features of contemporary television: hybridization of genre, syncretism between reality and fiction, fragmentation, and innovation in forms of didactic representation of the past. Based on these core elements, this article proposes an interdisciplinary interpretive perspective of a narrative and historical nature.DOI: 10.5294/pacla.2011.14.1.5 ¿Es posible transmitir contenidos de historia, compitiendo en prime-time y en un canal de televisión generalista? ¿Es posible, además, atraer la atención de un público popular? En este artículo de reflexión se establecen diferentes claves —teóricas y metodológicas— para la valoración del espacio televisivo Algo habrán hecho (por la historia argentina).Consideramos que este formato reúne las principales características de la televisión contemporánea: hibridación de géneros, sincretismo entre realidad y ficción, fragmentación, e innovación en las formas de representación didáctica del pasado. Desde dichos ejes, este trabajo plantea una perspectiva interpretativa de corte interdisciplinar, de carácter narrativo e histórico.DOI: 10.5294/pacla.2011.14.1.

Narrativizando la historia: un enfoque interdisciplinar aplicado al relato televisivo

Is it possible to transmit historical content while competing during prime time and on a television channel directed to a general audience? Is it also possible to attract the attention of a grass-roots audience? This critical commentary establishes different keys, both theoretical and methodological, for assessing the television program known as Algo habrán hecho (They Must Have Done Something Right) (on Argentine history).The authors believe this format brings together the main features of contemporary television: hybridization of genre, syncretism between reality and fiction, fragmentation, and innovation in forms of didactic representation of the past. Based on these core elements, this article proposes an interdisciplinary interpretive perspective of a narrative and historical nature.DOI: 10.5294/pacla.2011.14.1.5 ¿Es posible transmitir contenidos de historia, compitiendo en prime-time y en un canal de televisión generalista? ¿Es posible, además, atraer la atención de un público popular? En este artículo de reflexión se establecen diferentes claves —teóricas y metodológicas— para la valoración del espacio televisivo Algo habrán hecho (por la historia argentina).Consideramos que este formato reúne las principales características de la televisión contemporánea: hibridación de géneros, sincretismo entre realidad y ficción, fragmentación, e innovación en las formas de representación didáctica del pasado. Desde dichos ejes, este trabajo plantea una perspectiva interpretativa de corte interdisciplinar, de carácter narrativo e histórico.DOI: 10.5294/pacla.2011.14.1.