PeerJ
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Acute respiratory distress syndrome (ARDS) is associated with significantly increased risk of death, and early risk stratification may help to choose the appropriate treatment. The study aimed to develop a neural network model by using a genetic algorithm (GA) for the prediction of mortality in patients with ARDS. ⋯ The study developed a neural network model using a GA, which outperformed conventional scoring systems for the prediction of mortality in ARDS patients.
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Autism spectrum disorder (ASD) is a complex heterogeneous developmental disease with a significant genetic background that is frequently caused by rare copy number variants (CNVs). Microarray-based whole-genome approaches for CNV detection are widely accepted. However, the clinical significance of most CNV is poorly understood, so results obtained using such methods are sometimes ambiguous. We therefore evaluated a targeted approach based on multiplex ligation-dependent probe amplification (MLPA) using selected probemixes to detect clinically relevant variants for diagnostic testing of ASD patients. We compare the reliability and efficiency of this test to those of chromosomal microarray analysis (CMA) and other tests available to our laboratory. In addition, we identify new candidate genes for ASD identified in a cohort of ASD-diagnosed patients. ⋯ Multiplex ligation-dependent probe amplification and CMA yielded concordant results for 12 patients bearing CNV designated pathogenic or VOUS-likely pathogenic. Unambiguous diagnoses were achieved for eight patients (corresponding to 8.7% of the total studied population) by both MLPA and CMA, for one (1.09%) patient by karyotyping, and for one (1.09%) patient by FRAXA testing. MLPA and CMA thus achieved identical reliability with respect to clinically relevant findings. As such, MLPA could be useful as a fast and inexpensive test in patients with syndromic autism. The detection rate of potentially pathogenic variants (VOUS-likely pathogenic) achieved by CMA was higher than that for MLPA (13.04% vs. 4.35%). However, there was no corresponding difference in the rate of unambiguous diagnoses of ASD patients. In addition, the results obtained suggest that DOCK8 may play a role in the etiology of ASD.
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The Internet is widely used as a source of information by people searching for medical or healthcare information. However, information found on the Internet has several drawbacks, and the ability to consume accurate health information on the Internet (eHealth literacy) is increasingly important. This study's goal was to clarify the extent to which eHealth literacy is improved after e-learning in a randomized controlled trial. ⋯ eHealth literacy improved after the e-learning, as evidenced by the change to the eHEALS scores and increased skill for evaluating retrieved search results. There was no significant effect of e-learning, which did not include content on healthy eating, on the Healthy Eating Literacy Scale scores. This indicates that scores did not increase much due to effects other than e-learning, as is sometimes seen with the Hawthorne effect. Although it was statistically significant, the effect size was small. Therefore, future research is necessary to verify the clinical implications. In sum, this study suggests that e-learning is an effective way to improve eHealth literacy.
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To perform a systematic review and meta-analysis of the weekend effect on the mortality of patients with upper gastrointestinal bleeding(UGIB). ⋯ The weekend effect is associated with increased mortality of UGIB patients, particularly in non-variceal bleeding. The timing of endoscopic intervention might be a factor that influences mortality of UGIB patients.
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Fossil polypterids are mainly represented by disarticulated material, most of them pinnules. However, there is no study that proves the taxonomical validity of these structures. ⋯ Nevertheless, when comparing two different specimens of one species there is little or no interindividual variation, suggesting that pinnule morphology may have taxonomical validity. As the fossil polypterid record is based mainly on the articular head of the pinnules, we suggest caution when describing new taxa, especially if different fragments corresponding to specific positions in the dorsal fin occur in the same locality.