Translational research : the journal of laboratory and clinical medicine
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The advent of the first wave of genome-wide association studies (GWAS) provided a new conceptual framework in the search for variants underlying common disorders: a massive scan of the genome, free from underlying assumptions for biological or positional candidate loci, genes, and variants. Thus, GWAS have been labeled as a "hypothesis-free" or "agnostic" approach, overcoming the obstacles imposed by the incomplete understanding of disease pathophysiology. ⋯ Dictated by the design of genotyping platforms or the analysis methodologies, the implicit hypotheses of GWAS and their related implications for future research are summarized in this commentary. Since the result of any biological experiment is primarily determined by the extent to which the hypotheses tested truly hold, unless the presumptions of GWAS are acknowledged and complementary genetic analysis methods are implemented, the full advantage of genomic scans of human variation will not be realized.
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Chronic obstructive pulmonary disease (COPD) is characterized by airflow limitation that is not fully reversible. In a patient presenting with respiratory symptoms and risk factors, the recommendation is to perform spirometry to determine the presence of airflow obstruction. However, only about a third of patients with a diagnosis of COPD have spirometry along with their diagnosis, although studies have shown that history and physical examination alone are neither sensitive nor specific for diagnosing COPD. ⋯ Innovative quality improvement approaches, such as the application of the various components of the Chronic Care Model, could improve spirometry use in COPD. Only with accurate diagnosis can appropriate management and evidence-based treatment strategies be applied in practice. Therefore, it is important that we continue efforts to increase the use of spirometry in the diagnosis of COPD.
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Sleep apnea-hypopnea syndrome (SAHS) is characterized by recurrent episodes of hypoxia/reoxygenation, which seems to promote oxidative stress. SAHS patients experience increases in hypertension, obesity, and dyslipidemia, and the oxidative state has been related to the genesis of these disorders. The purpose of this study was to examine the changes in oxidative stress markers and metabolic parameters in S AHS patients after 1 month of treatment with continuous positive airway pressure (CPAP), in relation to their previous metabolic disorders. ⋯ In conclusion, oxidative stress markers improved significantly after CPAP treatment in SAHS patients, especially in the nondyslipidemic and hypertensive patients. Moreover, the blood pressure decreased after CPAP treatment, particularly in the obese, nondyslipidemic, and hypertensive patients. No significant change in IR was found in any of the SAHS patients after CPAP treatment.
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Common polymorphism of the apolipoprotein A5 gene (APOA5, c.553G>T) related to metabolic syndrome components, insulin resistance, and carotid atherosclerosis remains unclear. We investigated the associations of the APOA5 c.553G>T gene with various metabolic syndrome components and carotid artery atherosclerosis among family members. A total of 661 participants who provided complete genotyping and carotid artery measures were included in this study. ⋯ The age was an effect modifier for the association between APOA5 genotype and smoking, alcohol drinking, obesity, and lipid profiles, including total, HDL, and low-density lipoprotein (LDL) cholesterol; triglycerides; and apolipoproteins. In addition, the association between APOA5 genotype and hypertriglyceridemia was significant only in adult groups (OR, 3.53; 95% CI, 1.79-6.94), and the association between APOA5 genotype and low HDL cholesterol was stable in young adolescents (OR, 2.39; 95% CI, 1.19-4.78) and adults (OR, 2.20; 95% CI, 1.17-4.15). Our findings indicated that the APOA5 c.553G>T polymorphism is associated with high triglycerides and low HDL cholesterol but not with other metabolic syndrome components or carotid atherosclerosis in this ethnic Chinese population.
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Historical Article
The Central Society for Clinical Research: past, present, and future.