Compound heterozygous p.L483P and p.S310G mutations in GBA1 cause type 1 adult Gaucher disease:A case report

BACKGROUND Gaucher disease(GD)is caused by a GBA1 gene mutation that leads to decreased acidβ-glucosidase activity[glucocerebrosidase(GCase)].This study aimed to identify and characterise compound heterozygous mutations in GBA1 in a patient with type 1 GD.CASE SUMMARY Here,we report a rare adult-onset type 1 GD in a 46-year-old female patient with clinical manifestations of giant spleen,thrombocytopenia,and bone pain,diagnosed by enzymatic and genetic testing.Enzymology and whole exome sequencing revealed heterozygous missense mutations in exon 10 c.1448T>C(p.L483P)and exon 7 c.928A>G(p.S310G)of GBA1.The latter was first reported in patients with GD.Structural modelling showed that p.S310G and p.L483P were distant from the GCase active site.The p.S310G mutation in domain 1 may decrease stability between theα2 andα3 helices of GBA1.The p.L483P mutation in domain 2 reduced the van der Waals force of the side chain and disrupted the C-terminalβ-sheet.The patient was treated with imiglucerase replacement therapy,and her condition was stable.CONCLUSION The p.L483P/p.S310G novel compound heterozygous mutation underlies type 1 GD and likely affects GCase protein function.This is the first description of p.S310G being associated with mild type 1 GD in the context of a coinherited p.L483P mutation.

Effect of sufentanil combined with propofol and scoline on stress response and immune response in fiberoptic bronchoscopy

Objective: To explore the effect of sufentanil combined with propofol and scoline on stress response and immune response in fiberoptic bronchoscopy. Methods: A total of 138 patients with fiberoptic bronchoscopy in the hospital between March 2015 and April 2017 were collected and divided into routine group and scoline group by random number table, 69 cases in each group. Routine group received sufentanil combined with propofol anesthesia, and scoline group received sufentanil, propofol combined with scoline anesthesia. The differences in the levels of stress hormones in serum and immune indexes in alveolar lavage fluid were compared between the two groups before and after examination. Results: Before examination, the differences in the levels of Th1/Th2 cytokines in serum as well as Th1/Th2 cytokines and Th17/Treg cytokines in alveolar lavage fluid were not statistically significant between the two groups;immediately after examination, serum stress hormones Cor, E and NE levels of scoline group were lower than those of routine group;Th1 cytokines IL-2 and IFN-γ levels in alveolar lavage fluid were higher than those of routine group while Th2 cytokines IL-10 and IL-13 levels were lower than those of routine group;Th17 cytokine IL-17 level in alveolar lavage fluid was lower than that of routine group while Treg cytokine IL-23 level was higher than that of routine group. Conclusion: Small-dose scoline for fiberoptic bronchoscopy anesthesia can effectively relieve the systemic stress state and avoid the acute injury of immune response function.

A Permanent Magnet Linear Synchronous Motor Drive for HTS Maglev Transportation Systems

A permanent magnet linear synchronous motor （PMLSM） for a high temperature superconducting （HTS） maglev system has been studied, including the motor structure, control strategy, and analysis techniques. Finite element analysis （FEA） of magnetic field is conducted to accurately calculate major motor parameters. Equivalent electrical circuit is used to predict the drive＇s steady-state characteristics, and a phase variable model is applied to predict the dynamic performance. Preliminary experiment with a prototype has been made to verify the theoretical analysis and the HTS-PM synchronous driving technology.

Techniques and Apparatus for Measuring Rotational Core Losses of Soft Magnetic Materials

In many situations such as the cores of a rotating electrical machine and the T joints of a multiphase transformer, the local flux density varies with time in terms of both magnitude and direction, i.e. the flux density vector is rotating. Therefore, the magnetic properties of the core materials under the rotating flux density vector excitation should be properly measured, modeled and applied in the design and analysis of these electromagnetic devices. This paper presents an extensive review on the development of techniques and apparatus for measuring the rotational core losses of soft magnetic materials based on the experiences of various researchers in the last hundred years.

Chiral Thermally Activated Delayed Fluorescence-Active Macrocycles Displaying Efficient Circularly Polarized Electroluminescence

An efficient strategy for constructing chiral macrocycles with both thermally activated delayed fluorescence(TADF)and highly efficient circularly polarized electroluminescence(CPEL)properties was developed.Consequently,a pair of macrocyclic enantiomers(+)-(R,R)-MC and(−)-(S,S)-MC was synthesized by a combination of chiral octahydro-binaphthol moiety with triazine-based TADF skeleton.The chiral macrocycles exhibited obvious TADF properties with a lowΔE_(ST) of 0.067 eV,aggregation-induced emission behaviors,and high photoluminescence quantum yields of up to 79.7%.Moreover,the macrocyclic enantiomers showed mirror images in circular dichroism spectra and circularly polarized luminescence signals.Especially,the chiralmacrocycleswere suitable for the preparation of solution-processed circularly polarized organic light-emitting diodes,which displayed excellent device performances with a highmaximum external quantum efficiency of up to 17.1%,low-efficiency roll-off of 3.5%at 1000 cdm^(−2),andintenseCPELalong with electroluminescence dissymmetry factor of 1.7×10^(−3).

A Note on a Generalized Network Flow Model for Manufacturing Process

Manufacturing network flow （MNF） is a generalized network model that overcomes the limitation of an ordinary network flow in modeling more complicated manufacturing scenarios, in particular the synthesis of different materials into one product and/or the distilling of one type of material into many different products. Though a network simplex method for solving a simplified version of MNF has been outlined in the literature, more research work is still needed to give a complete answer whether some classical duality and optimality results of the classical network flow problem can be extended in MNF. In this paper, we propose an algorithmic method for obtaining an initial basic feasible solution to start the existing network simplex algorithm, and present a network-based approach to checking the dual feasibility conditions. These results are an extension of those of the ordinary network flow problem.

新安江大洪水对钱塘江涌潮的影响研究

新安江水库首次九孔泄洪,恰逢下游大潮,涌潮汹涌,洪水与涌潮相互顶托,九孔泄洪对涌潮的影响研究具有重要学术意义,并对两岸防洪调度和海塘安澜具有工程实际意义。该文通过分析实测资料和平面二维涌潮数学模型,研究了泄洪对涌潮的影响。结果表明,泄洪对涌潮的影响显著,存在直接影响和间接影响。直接影响为仓前站上游的涌潮基本不出现,盐官站下游沿程涌潮高度增加,涌潮流速和传播速度均减小;“一线潮”会更加平顺,“交叉潮”难以出现。间接影响为泄洪冲刷河床,增大河床容积并降低沙坎高程,增加进潮量有利于涌潮传播和加强。总体而言,泄洪增加了盐官以下河段的涌潮高度,但涌潮流速减弱且到达时间滞后,涌潮的气势减弱,交叉潮难以出现,降低了涌潮的观赏价值。