198 research outputs found
The effects of an insertion in the 5 ' UTR of the AMCase on gene expression and pulmonary functions
Cataloged from PDF version of article.Background: Studies regarding the physiological role of acidic mammalian chitinase (AMCase) and the effects of its genetic variants on asthma have produced conflicting results.
Objectives: We aimed to determine the genetic variants in the AMCase gene that could regulate the gene expression and thus influence disease severity.
Methods: Genetic variants of the AMCase gene were determined by sequencing of asthmatics and healthy controls in up to -1 kb in the promoter region and exon 1 and 2. In an association study, a population of asthmatic (n = 504) and healthy Turkish children (n = 188) were genotyped for the observed SNPs. A replication study was performed in a North American adult population of patients with mild (n = 317) and severe (n = 145) asthma. The functional properties of the insertion were determined by promoter reporter assay, electromobility shift assay and transcription factor ELISA experiments.
Results: Of the identified SNPs, only a ten base pair insertion (CAATCTAGGC) in the 5'UTR region of exon 2 was significantly associated with lower FEV(1) (beta = -14.63 SE = 6.241, P = 0.019) in Turkish children with asthma. However, in the adult population, the same insertion showed a trend toward higher FEV(1). The insertion was shown to have enhancer activity and the mutant probe possessing the insertion had higher binding affinity for the nuclear extracts.
Conclusion: Our study shows that a ten base pair insertion in the 5'UTR region of AMCase gene may modify gene expression and thus may affect the severity of asthma. However, its effects appear to be different in different populations. (C) 2011 Elsevier Ltd. All rights reserved
Obturacyjny bezdech senny jako czynnik ryzyka rozwoju chorób układu sercowo-naczyniowego
Obturacyjny bezdech senny jest stosunkowo często występującym schorzeniem, które dotyka
około 5-15% populacji. Zaburzenie to zazwyczaj ściśle wiąże się ze zwiększonym ryzykiem
rozwoju chorób układu sercowo-naczyniowego. Diagnostyka obturacyjnego bezdechu sennego
opiera się na badaniu polisomnograficznym, a jego nasilenie mierzy się za pomocą wskaźnika
bezdechów i spłyceń oddychania. Większość działań niepożądanych wywoływanych przez obturacyjny
bezdech senny w odniesieniu do układu sercowo-naczyniowego ma, w toku włączonego
leczenia, charakter odwracalny. Oprócz terapii za pomocą wentylacji w trybie ciągle dodatniego
ciśnienia w drogach oddechowych w celu kompleksowego leczenia obturacyjnego bezdechu
sennego zaleca się również zmniejszenie masy ciała, unikanie leków o depresyjnym wpływie
na centralny układ nerwowy, leczenie niedrożności jamy nosowej, a także spanie w pozycji
bocznej. (Folia Cardiologica Excerpta 2008; 3: 74-78
Virtual Patients and Sensitivity Analysis of the Guyton Model of Blood Pressure Regulation: Towards Individualized Models of Whole-Body Physiology
Mathematical models that integrate multi-scale physiological data can offer insight into physiological and pathophysiological function, and may eventually assist in individualized predictive medicine. We present a methodology for performing systematic analyses of multi-parameter interactions in such complex, multi-scale models. Human physiology models are often based on or inspired by Arthur Guyton's whole-body circulatory regulation model. Despite the significance of this model, it has not been the subject of a systematic and comprehensive sensitivity study. Therefore, we use this model as a case study for our methodology. Our analysis of the Guyton model reveals how the multitude of model parameters combine to affect the model dynamics, and how interesting combinations of parameters may be identified. It also includes a “virtual population” from which “virtual individuals” can be chosen, on the basis of exhibiting conditions similar to those of a real-world patient. This lays the groundwork for using the Guyton model for in silico exploration of pathophysiological states and treatment strategies. The results presented here illustrate several potential uses for the entire dataset of sensitivity results and the “virtual individuals” that we have generated, which are included in the supplementary material. More generally, the presented methodology is applicable to modern, more complex multi-scale physiological models
Dislexia e ensino-aprendizagem de língua portuguesa : um estudo de caso
Monografia (graduação)—Universidade de Brasília, Instituto de Letras, 2013.Esta pesquisa trata da dislexia e do ensino-aprendizagem de Língua Portuguesa para disléxicos, com base em um estudo de caso com estudante disléxico da rede pública de ensino do Plano Piloto. Dentre as questões abordadas, estão as definições da dislexia, seus tipos e possíveis tratamentos, além da discussão do espaço que tal distúrbio de aprendizagem tem na educação, a sugestão de inclusão da dislexia na Educação Especial e, consequentemente, nas salas de recursos e a adequação da metodologia de ensino, baseada na exploração dos gêneros textuais e dos multiletramentos, dentro da perspectiva Sociointeracionista de Vygotsky e da proposta de professor libertador, de Paulo Freire
Low incidence of SARS-CoV-2, risk factors of mortality and the course of illness in the French national cohort of dialysis patients
Geographical and temporal distribution of SARS-CoV-2 clades in the WHO European Region, January to June 2020
We show the distribution of SARS-CoV-2 genetic clades over time and between countries and outline potential genomic surveillance objectives. We applied three available genomic nomenclature systems for SARS-CoV-2 to all sequence data from the WHO European Region available during the COVID-19 pandemic until 10 July 2020. We highlight the importance of real-time sequencing and data dissemination in a pandemic situation. We provide a comparison of the nomenclatures and lay a foundation for future European genomic surveillance of SARS-CoV-2.Peer reviewe
Impact of different drying parameters on color, β-carotene, antioxidant activity and minerals of apricot (Prunus armeniacaL.)
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