Finishing the euchromatic sequence of the human genome

The sequence of the human genome encodes the genetic instructions for human physiology, as well as rich information about human evolution. In 2001, the International Human Genome Sequencing Consortium reported a draft sequence of the euchromatic portion of the human genome. Since then, the international collaboration has worked to convert this draft into a genome sequence with high accuracy and nearly complete coverage. Here, we report the result of this finishing process. The current genome sequence (Build 35) contains 2.85 billion nucleotides interrupted by only 341 gaps. It covers ∼99% of the euchromatic genome and is accurate to an error rate of ∼1 event per 100,000 bases. Many of the remaining euchromatic gaps are associated with segmental duplications and will require focused work with new methods. The near-complete sequence, the first for a vertebrate, greatly improves the precision of biological analyses of the human genome including studies of gene number, birth and death. Notably, the human enome seems to encode only 20,000-25,000 protein-coding genes. The genome sequence reported here should serve as a firm foundation for biomedical research in the decades ahead

The analysis of a discrete time finite-buffer queue with working vacations under Markovian arrival process and PH-service time

In this paper, we study the discrete-time MAP/PH/1 queue with multiple working vacations and finite buffer N. Using the Matrix-Geometric Combination method, we obtain the stationary probability vectors of this model, which can be expressed as a linear combination of two matrix-geometric vectors. Furthermore, we obtain some performance measures including the loss probability and give the limit of loss probability as finite buffer N goes to infinite. Waiting time distribution is derived by using the absorbing Markov chain. Moreover, we obtain the number of customers served in the busy period. At last, some numerical examples are presented to verify the results we obtained and show the impact of parameter N on performance measures

Efficacy and safety of US-guided thermal ablation for primary hyperparathyroidism: a systematic review and meta-analysis

Purpose To summarize the published literature on thermal ablation for primary hyperparathyroidism (PHPT) and to evaluate the effectiveness and safety of thermal ablation as a novel treatment strategy. Materials and methods Two authors carried out the literature search using four databases independently, including PubMed, Embase, Cochrane, and Web of Science. The meta-analysis included prospective and retrospective data that compared post-ablative outcomes to pre-ablative values. The primary outcomes were parathyroid hormone (PTH), serum calcium and volume of the parathyroid gland (VPG). Results From the 184 original articles, five studies (4 retrospective studies and 1 prospective study) examining 84 patients met the inclusion criteria. The meta-analysis showed significant reduction of PTH at 3 (standardized mean difference (SMD) =  −1.09, 95% confidence index (CI) =  −1.42 to −0.76, p < 0.001) and 6 months (SMD =  −1.13, 95% CI =  −1.46 to −0.80, p < 0.001) after thermal ablation. Serum calcium level was significantly reduced at 3 (mean difference (MD) =  −0.31, 95% CI =  −0.50 to −0.12, p  =  0.001) and 6 months (MD =  −0.31, 95% CI =  −0.46 to −0.17, p < 0.001) after thermal ablation. There was no significant difference between pre-ablative VPG and that of 6 months after ablation (MD =  −0.30, 95% CI =  −0.70 to 0.09, p  =  0.13). The most common complications were transient dysphonia and subcutaneous edema. No major complications or death occurred. Conclusion Thermal ablation is effective and safe for treatment of PHPT. PTH and calcium levels were reduced significantly at 3 and 6 months after thermal ablation

Electrochemical Evaluation of trans-Resveratrol Levels in Red Wine Based on the Interaction between Resveratrol and Graphene

trans-Resveratrol is often considered as one of the quality standards of red wine, and the development of a sensitive and reliable method for monitoring the trans-resveratrol levels in red wine is an urgent requirement for the quality control. Here, a novel voltammetric approach was described for probing trans-resveratrol using a graphene-modified glassy carbon (GC) electrode. The proposed electrode was prepared by one-step electrodeposition of reduced graphene oxide (ERGO) at a GC electrode. Compared with the bare GC electrode, the introduced graphene film on the electrode surface dramatically improved the sensitivity of the sensor response due to the π-π interaction between the graphene and trans-resveratrol. The developed sensor exhibited low detection limit of 0.2 μM with wide linear range of 0.8–32 μM and high stability. For the analysis of trans-resveratrol in red wine, the high anti-interference ability and the good recoveries indicated the great potential for practical applications

Thermodynamic Modeling Suggests Declines in Water Uptake and Acidity of Inorganic Aerosols in Beijing Winter Haze Events during 2014/2015-2018/2019

During recent years, aggressive air pollution mitigation measures in northern China have resulted in considerable changes in gas and aerosol chemical composition. But it is unclear whether aerosol water content and acidity respond to these changes. The two parameters have been shown to affect heterogeneous production of winter haze aerosols. Here, we performed thermodynamic equilibrium modeling using chemical and meteorological data observed in urban Beijing for four recent winter seasons and quantified the changes in the mass growth factor and pH of inorganic aerosols. We focused on high relative humidity (>60%) conditions when submicron particles have been shown to be in the liquid state. From 2014/2015 to 2018/2019, the modeled mass growth factor decreased by about 9%-17% due to changes in aerosol compositions (more nitrate and less sulfate and chloride), and the modeled pH increased by about 0.3-0.4 unit mainly due to rising ammonia. A buffer equation is derived from semivolatile ammonia partitioning, which helps understand the sensitivity of pH to meteorological and chemical variables. The findings provide implications for evaluating the potential chemical feedback in secondary aerosol production and the effectiveness of ammonia control as a measure to alleviate winter haze

Interpretable artificial intelligence-based app assists inexperienced radiologists in diagnosing biliary atresia from sonographic gallbladder images

Abstract Background A previously trained deep learning-based smartphone app provides an artificial intelligence solution to help diagnose biliary atresia from sonographic gallbladder images, but it might be impractical to launch it in real clinical settings. This study aimed to redevelop a new model using original sonographic images and their derived smartphone photos and then test the new model’s performance in assisting radiologists with different experiences to detect biliary atresia in real-world mimic settings. Methods A new model was first trained retrospectively using 3659 original sonographic gallbladder images and their derived 51,226 smartphone photos and tested on 11,410 external validation smartphone photos. Afterward, the new model was tested in 333 prospectively collected sonographic gallbladder videos from 207 infants by 14 inexperienced radiologists (9 juniors and 5 seniors) and 4 experienced pediatric radiologists in real-world mimic settings. Diagnostic performance was expressed as the area under the receiver operating characteristic curve (AUC). Results The new model outperformed the previously published model in diagnosing BA on the external validation set (AUC 0.924 vs 0.908, P = 0.004) with higher consistency (kappa value 0.708 vs 0.609). When tested in real-world mimic settings using 333 sonographic gallbladder videos, the new model performed comparable to experienced pediatric radiologists (average AUC 0.860 vs 0.876) and outperformed junior radiologists (average AUC 0.838 vs 0.773) and senior radiologists (average AUC 0.829 vs 0.749). Furthermore, the new model could aid both junior and senior radiologists to improve their diagnostic performances, with the average AUC increasing from 0.773 to 0.835 for junior radiologists and from 0.749 to 0.805 for senior radiologists. Conclusions The interpretable app-based model showed robust and satisfactory performance in diagnosing biliary atresia, and it could aid radiologists with limited experiences to improve their diagnostic performances in real-world mimic settings