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AC Martin IA Laing G Zhang S Brennan K Winfield PD Sly SM Stick J Goldblatt PN LeSouef 《Respiratory research》2005,6(1):1-4
Early acquisition of Pseudomonas aeruginosa is associated with a poorer prognosis in patients with cystic fibrosis. We investigated whether polymorphisms in CD14, the lipopolysaccharide receptor, increase the risk of early infection. Forty-five children with cystic fibrosis were investigated with annual bronchoalveolar lavage (BAL) and plasma sCD14 levels. Plasma sCD14 levels were significantly lower in children from whom P.aeruginosa was subsequently isolated (492.75 μg/ml vs. 1339.43 μg/ml, p = 0.018). Those with the CD14 -159CC genotype had a significantly increased risk of early infection with P.aeruginosa suggesting that CD14 C-159T plays a role in determining the risk of early infection with P.aeruginosa. 相似文献
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L. Derks S. Houterman G. S. C. Geuzebroek P. van der Harst P. C. Smits the PCI Registration Committee of the Netherlands Heart Registration 《Netherlands heart journal》2021,29(9):427
BackgroundIn multiple studies, the potential relationship between daylight saving time (DST) and the occurrence of acute myocardial infarction (MI) has been investigated, with mixed results. Using the Dutch Percutaneous Coronary Intervention (PCI) registry facilitated by the Netherlands Heart Registration, we investigated whether the transitions to and from DST interact with the incidence rate of PCI for acute MI.MethodsWe assessed changes in hospital admissions for patients with ST-elevation myocardial infarction (STEMI) or non-STEMI (NSTEMI) undergoing PCI between 1 January 2015 and 31 December 2018. We compared the incidence rate of PCI procedures during the first 3 or 7 days after the transition with that during a control period (2 weeks before transition plus second week after transition). Incidence rate ratio (IRR) was calculated using Poisson regression. Potential gender differences were also investigated.ResultsA total of 80,970 PCI procedures for STEMI or NSTEMI were performed. No difference in incidence rate a week after the transition to DST in spring was observed for STEMI (IRR 0.95, 95% confidence interval (CI) 0.87–1.03) or NSTEMI (IRR 1.04, 95% CI 0.96–1.12). After the transition from DST in autumn, the IRR was also comparable with the control period (STEMI: 1.03, 95% CI 0.95–1.12, and NSTEMI: 0.98, 95% CI 0.91–1.06). Observing the first 3 days after each transition yielded similar results. Gender-specific results were comparable.ConclusionBased on data from a large, nationwide registry, there was no correlation between the transition to or from DST and a change in the incidence rate of PCI for acute MI. 相似文献
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Genetic and environmental influences on variance in phenotypic traits may be estimated with normal theory Maximum Likelihood (ML). However, when the assumption of multivariate normality is not met, this method may result in biased parameter estimates and incorrect likelihood ratio tests. We simulated multivariate normal distributed twin data under the assumption of three different genetic models. Genetic model fitting was performed in six data sets: multivariate normal data, discrete uncensored data, censored data, square root transformed censored data, normal scores of censored data, and categorical data. Estimates were obtained with normal theory ML (data sets 1-5) and with categorical data analysis (data set 6). Statistical power was examined by fitting reduced models to the data. When fitting an ACE model to censored data, an unbiased estimate of the additive genetic effect was obtained. However, the common environmental effect was underestimated and the unique environmental effect was overestimated. Transformations did not remove this bias. When fitting an ADE model, the additive genetic effect was underestimated while the dominant and unique environmental effects were overestimated. In all models, the correct parameter estimates were recovered with categorical data analysis. However, with categorical data analysis, the statistical power decreased. The analysis of L-shaped distributed data with normal theory ML results in biased parameter estimates. Unbiased parameter estimates are obtained with categorical data analysis, but the power decreases. 相似文献
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Minela Haskovic Britt Derks Liesbeth van der Ploeg Jorn Trommelen Jean Nyakayiru Luc J. C. van Loon Sabrina Mackinnon Wyatt W. Yue Roy W. A. Peake Li Zha Didem Demirbas Wanshu Qi Xiaoping Huang Gerard T. Berry Jelle Achten Jörgen Bierau M. Estela Rubio-Gozalbo Ana I. Coelho 《Orphanet journal of rare diseases》2018,13(1):212
Background
Classic galactosemia is a rare genetic metabolic disease with an unmet treatment need. Current standard of care fails to prevent chronically-debilitating brain and gonadal complications.Many mutations in the GALT gene responsible for classic galactosemia have been described to give rise to variants with conformational abnormalities. This pathogenic mechanism is highly amenable to a therapeutic strategy based on chemical/pharmacological chaperones. Arginine, a chemical chaperone, has shown beneficial effect in other inherited metabolic disorders, as well as in a prokaryotic model of classic galactosemia.The p.Q188R mutation presents a high prevalence in the Caucasian population, making it a very clinically relevant mutation. This mutation gives rise to a protein with lower conformational stability and lower catalytic activity. The aim of this study is to assess the potential therapeutic role of arginine for this mutation.Methods
Arginine aspartate administration to four patients with the p.Q188R/p.Q188R mutation, in vitro studies with three fibroblast cell lines derived from classic galactosemia patients as well as recombinant protein experiments were used to evaluate the effect of arginine in galactose metabolism. This study has been registered at https://clinicaltrials.gov (NCT03580122) on 09 July 2018. Retrospectively registered.Results
Following a month of arginine administration, patients did not show a significant improvement of whole-body galactose oxidative capacity (p =?0.22), erythrocyte GALT activity (p =?0.87), urinary galactose (p =?0.52) and urinary galactitol levels (p =?0.41). Patients’ fibroblasts exposed to arginine did not show changes in GALT activity. Thermal shift analysis of recombinant p.Q188R GALT protein in the presence of arginine did not exhibit a positive effect.Conclusions
This short pilot study in four patients homozygous for the p.Q188R/p.Q188R mutation reveals that arginine has no potential therapeutic role for galactosemia patients homozygous for the p.Q188R mutation.59.
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