Genotype-phenotype analysis of three Chinese families with Jervell and Lange-Nielsen syndrome

Long QT syndrome (LQTS) is characterized by QT prolongation, syncope and sudden death. This study aims to explore the causes, clinical manifestations and therapeutic outcomes of Jervell and Lange-Nielsen syndrome (JLNS), a rare form of LQTS with congenital sensorineural deafness, in Chinese individuals.Three JLNS kindreds from the Chinese National LQTS Registry were investigated. Mutational screening of KCNQ1 and KCNE1 genes was performed by polymerase chain reaction and direct DNA sequence analysis. LQTS phenotype and therapeutic outcomes were evaluated for all probands and family members.We identified 7 KCNQ1 mutations. c.1032_1117dup (p.Ser373TrpfsX10) and c.1319delT (p.Val440AlafsX26) were novel, causing JLNS in a 16-year-old boy with a QTc (QT interval corrected for heart rate) of 620 ms and recurrent syncope. c.605-2A>G and c.815G>A (p.Gly272Asp) caused JLNS in a 12-year-old girl and her 5-year-old brother, showing QTc of 590 to 600 ms and recurrent syncope. The fourth JLNS case, a 46-year-old man carrying c.1032G>A (p.Ala344Alasp) and c.569G>A (p.Arg190Gln) and with QTc of 460 ms, has been syncope-free since age 30. His 16-year-old daughter carries novel missense mutation c.574C>T (p.Arg192Cys) and c.1032G>A(p.Ala344Alasp) and displayed a severe phenotype of Romano-Ward syndrome (RWS) characterized by a QTc of 530 ms and recurrent syncope with normal hearing. Both the father and daughter also carried c.253G>A (p.Asp85Asn; rs1805128), a rare single nucleotide polymorphism (SNP) on KCNE1. Bizarre T waves were seen in 3/4 JLNS patients. Symptoms were improved and T wave abnormalities became less abnormal after appropriate treatment.This study broadens the mutation and phenotype spectrums of JLNS. Compound heterozygous KCNQ1 mutations can result in both JLNS and severe forms of RWS in Chinese individuals.SCI(E)CPCI-S(ISTP)PubMed0MEETING ABSTRACT267-75

Physically-based simulation for oil leakage and diffusion on river using heterogeneous graph attention network

Once the oil pipeline leakage accident occurs on the river, the simulation of the leakage diffusion range is of great significance for the designation of emergency rescue plans. The existing methods cannot show the precise leakage diffusion process consistent with the physical law for crude oil on the river and the simulation suffers high run-time complexity. This paper proposed a two-phase leakage simulation for oil and water combined with the physical process of smoothed particle hydrodynamics (SPH) and graph attention network. A new and efficient method—Mixture Tension Divergence-Free SPH (MTDF-SPH)—that the mixture model and the surface tension model are introduced to the divergence-free smoothed particle hydrodynamics (DFSPH) for simulating the mixing and decomposition effects of immiscible phases. To further accelerate the leakage diffusion process, we design a physics-aware heterogeneous graph attention network (PAGATNet), based on Attention Graph Network Block (AGNB) and Feature-Response Knowledge Distillation (FRKD) to enhance the network's ability for extracting the particle features of physical properties. The experimental results on different test cases show the accuracy, robustness and effectiveness of our method than those of the state-of-the-art in two-phase leakage simulation of crude oil on the river

Annual Long-Distance Migration Strategies and Home Range of Chinese Sparrowhawk (Accipiter soloensis) from South China

From 2018 to 2019, two Chinese Sparrowhawks (Bird 01, male; Bird 02, female), Accipiter soloensis, were captured and fitted with Global Positioning System (GPS) loggers in order to identify summering and wintering sites, migration routes, and stop-over sites. The Chinese Sparrowhawks were first fitted with backpack solar GPS satellite trackers in China in order to explore their migration routes. The two Chinese Sparrowhawks successfully completed their migration from southern China, through Nanning city of Guangxi province, China, to Vietnam, Laos, Myanmar, Thailand, Malaysia, and Singapore and finally arriving in Indonesia, where they stayed until the March of the following year. They then returned to China along the original route, arriving in Changsha city, Hunan province, China. The two individuals traveled more than 4000–5000 km. For the first time, telemetry data demonstrate, the linkages between their Indonesia wintering sites, their stop-over sites in Southeast Asia, and their breeding/summering sites near south Yangtze River in the south-central part of China. During this long-distance migration, 2653 bird satellite sites were received. The autumn migration durations for the two Chinese Sparrowhawks were 84 days and 50 days, respectively, compared to 83 days and 49 days in spring. The median stop-over duration was 12.7 and 9.3 days, respectively and the median speed of travel was 74.2 km/day during the autumn migration and 73.9 km/day during the spring migration. Furthermore, two and one stop-over sites and one and three stop-over sites were used during the autumn and spring migrations of Chinese Sparrowhawks 01 and 02, respectively. The Chinese Sparrowhawks migrated long distances and used stop-over sites during their migration. Based on the home range analysis, we can conclude that Chinese Sparrowhawks reach their maximum home range in the summer and have multiple nuclear domains

Reliability Uncertainty Analysis Method for Aircraft Electrical Power System Design Based on Variance Decomposition

As a safety critical system, affected by cognitive uncertainty and flight environment variability, aircraft electrical power system proves highly uncertain in its failure occurrence and consequences. However, there are few studies on how to reduce the uncertainty in the system design stage, which is of great significance for shortening the development cycle and ensuring flight safety during the operation phrase. For this reason, based on the variance decomposition theory, this paper proposes an importance measure index of the influence of component failure rate uncertainty on the uncertainty of power supply reliability (system reliability). Furthermore, an algorithm to calculate the measure index is proposed by combining with the minimum path set and Monte Carlo simulation method. Finally, the proposed method is applied to a typical series-parallel system and an aircraft electrical power system, and a criteria named as “quantity and degree optimization criteria” is drawn from the case study. Results demonstrate that the proposed method indeed realizes the measurement of the contribution degree of component failure rate uncertainty to system reliability uncertainty, and combined with the criteria, proper solutions can be quickly determined to reduce system reliability uncertainty, which can be a theoretical guidance for aircraft electrical power system reliability design

Reliability Evaluation for Aviation Electric Power System in Consideration of Uncertainty

With the rapid development of more electric aircraft (MEA) in recent years, the aviation electric power system (AEPS) has played an increasingly important role in safe flight. However, as a highly reliable system, because of its complicated flight conditions and architecture, it often proves significant uncertainty in its failure occurrence and consequence. Thus, more and more stakeholders, e.g., passengers, aviation administration departments, are dissatisfied with the traditional system reliability analysis, in which failure uncertainty is not considered and system reliability probability is a constant value at a given time. To overcome this disadvantage, we propose a new methodology in the AEPS reliability evaluation. First, we perform a random sampling from the probability distributions of components’ failure rates and compute the system reliability at each sample point; after that, we use variance, confidence interval, and probability density function to quantify the uncertainty of system reliability. Finally, we perform the new method on a series–parallel system and an AEPS. The results show that the power supply reliability of AEPS is uncertain and the uncertainty varies with system time even though the uncertainty of each component’s failure is quite small; therefore it is necessary to quantify system uncertainty for safer flight, and our proposed method could be an effective way to accomplish this quantization task

Field-aligned quadrangulation for image vectorization

Image vectorization is an important yet challenging problem, especially when the input image has rich content. In this paper, we develop a novel method for automatically vectorizing natural images with feature-aligned quad-dominant meshes. Inspired by the quadrangulation methods in 3D geometry processing, we propose a new directional field optimization technique by encoding the color gradients, sidestepping the explicit computing of salient image features. We further compute the anisotropic scales of the directional field by accommodating the distance among image features. Our method is fully automatic and efficient, which takes only a few seconds for a 400×400 image on a normal laptop. We demonstrate the effectiveness of the proposed method on various image editing applications.Ministry of Education (MOE)The research of Yuanfeng Zhou was supported by the NSFC Fund (No.61772312), the key research and development project of Shandong province (2017GGX10110), the fundamental research funds of Shandong University (2018JC030). The research of Shiqing Xin was supported by the NSFC Fund (No.61772016).The research of Ying He was supported by the Singapore Ministry of Education Grant RG26/17

Analysis of mRNA expression profiles of carotenogenesis and astaxanthin production of Haematococcus pluvialis under exogenous 2, 4-epibrassinolide (EBR)

The fresh-water green unicellular alga Haematococcus pluvialis is known to accumulate astaxanthin under stress conditions. In the present study, transcriptional expression of eight genes involved in astaxanthin biosynthesis exposed to EBR (25 and 50 mg/L) was analyzed using qRT-PCR. The results demonstrated that both 25 and 50 mg/L EBR could increase astaxanthin productivity and the eight carotenogenic genes were up-regulated by EBR with different expression profiles. Moreover, EBR25 induction had a greater influence on the transcriptional expression of ipi-1, ipi-2, crtR-B, lyc and crtO (> 5- fold up-regulation) than on psy, pds, bkt; EBR50 treatment had a greater effect on the transcriptional expression of ipi-2, pds, lyc, crtR-B, bkt and crtO than on ipi-1 and psy. Furthermore, astaxanthin biosynthesis under EBR was up-regulated mainly by ipi1־ and psy at the post-transcriptional level, pds, lyc, crtR-B, bkt and crtO at the transcriptional level and ipi-2 at both levels

Deaggregation and Crystallization Inhibition by Small Amount of Polymer Addition for a Co-Amorphous Curcumin-Magnolol System

Different from previously reported co-amorphous systems, a co-amorphous curcumin-magnolol (CUR-MAG CM) system, as compared with its crystalline counterparts, exhibited decreased dissolution due to its aggregation during dissolution. The main purpose of the present study is to deaggregate CUR-MAG CM to optimize drug dissolution and explore the deaggregation mechanism involved. Herein, a small amount of polymer (HPMC, HPC, and PVP K30) was co-formulated at 5% (w/w) with CUR-MAG CM as ternary co-amorphous systems. The polymer addition changed the surface properties of CUR-MAG CM including improved water wettability enhanced surface free energy, and hence exerted a deaggregating effect. As a result, the ternary co-amorphous systems showed faster and higher dissolution as compared with crystalline CUR/MAG and CUR-MAG CM. In addition, the nucleation and crystal growth of dissolved CUR and MAG molecules were significantly inhibited by the added polymer, maintaining a supersaturated concentration for a long time. Furthermore, polymer addition increased the Tg of CUR-MAG CM, potentially involving molecular interactions and inhibiting molecular mobility, resulting in enhanced physical stability under 25 °C/60% RH and 40 °C/75% RH conditions. Therefore, this study provides a promising strategy to optimize the dissolution and physical stability of co-amorphous systems by deaggregation and crystallization inhibition via adding small amounts of polymers

Interfacial Properties of Loblolly Pine Bonded with Epoxy/Wood Pyrolysis Bio-oil Blended System

The bonding interface of loblolly pine veneers cured with epoxy/wood pyrolysis bio-oil resins was studied. The shear strength of the adhered strands was calculated to examine the effect of bio-oil addition on epoxy resin performance. The chemical structure, curing behavior, and microstructure were investigated to analyze the interaction between wood substrate and resins. Results showed that the strength of pine wood-resin joints gradually decreased as more bio-oil was added. However, this effect was not apparent when the substitution rate was lower than 30%. ATR-FTIR analysis confirmed that complex chemical reactions take place between wood constituents and epoxy/bio-oil resins involved in the cross-linking at the interface. The reaction degree of -OH and C-O-C functional groups plays a key role in regulating the bonding stress of the wood bond line. The addition of bio-oil accelerated the polycondensation cross-linking process, resulting in a decreased cure temperature. SEM and optical microscopy showed that the epoxy/bio-oil resin formed gel nails in the pit and tracheid gaps, leading to the closing of the capillaries of the wood’s cell walls and the colloidal interface extending into the timber micro-capillary system