Compound heterozygous mutations in tripeptidyl peptidase 1 cause rare autosomal recessive spinocerebellar ataxia type 7:A case report

BACKGROUND Spinocerebellar ataxia recessive type 7(SCAR7)is a rare clinical manifestation beginning in childhood or adolescence.SCAR7 is caused by tripeptidyl peptidase 1(TPP1)gene mutations,and presents with cerebellar ataxia,pyramidal signs,neurocognitive impairment,deep paresthesia,and cerebellar atrophy.CASE SUMMARY Here,we describe a 25-year-old female patient in China who presented with increasing difficulty walking,falling easily,shaking limbs,instability holding items,slurred speech,coughing when drinking,palpitations,and frequent hunger and overeating.Magnetic resonance imaging showed cerebellar atrophy.Whole exome sequencing detected two compound heterozygous mutations in the TPP1 gene:c.1468G>A p.Glu490Lys and c.1417G>A p.Gly473Arg.Considering the patient’s clinical presentation and genetic test results,we hypothesized that complex heterozygous mutations cause TPP1 enzyme deficiency,which may lead to SCAR7.CONCLUSION We report the first case of SCAR7 from China.We also identify novel compound heterozygous mutations in the TPP1 gene associated with SCAR7,expanding the range of known disease-causing mutations for SCAR7.

Electroencephalogram findings in 10 patients with post-stroke epilepsy:A retrospective study

BACKGROUND Post-stroke epilepsy is a common and easily overlooked complication of acute cerebrovascular disease.Long-term seizures can seriously affect the prognosis and quality of life of patients.Electroencephalogram(EEG)is the simplest way to diagnose epilepsy,and plays an important role in predicting seizures and guiding medication.AIM To explore the EEG characteristics of patients with post-stroke epilepsy and improve the detection rate of inter-seizure epileptiform discharges.METHODS From January 2017 to June 2020,10 patients with post-stroke epilepsy in our hospital were included.The clinical,imaging,and EEG characteristics were collected.The stroke location,seizure type,and ictal and interictal EEG manifestations of the patients with post-stroke epilepsy were then retrospectively analyzed.RESULTS In all 10 patients,epileptiform waves occurred in the side opposite to the stroke lesion during the interictal stage;these manifested as sharp wave,sharp-wave complex,or spike discharges in the anterior head lead of the side opposite to the lesion.CONCLUSION In EEG,epileptiform waves can occur in the side opposite to the stroke lesion in patients with post-stroke epilepsy.

Effect of glutamine nutrition support on the intestinal mucosal barrier function and inflammatory response in patients with severe acute pancreatitis

Objective:To study the effect of glutamine nutrition support on the intestinal mucosal barrier function and inflammatory response in patients with severe acute pancreatitis.Methods:Patients with severe acute pancreatitis who were treated in Pengzhou People's Hospital between May 2014 and November 2016 were selected as the research subjects and randomly divided into two groups, control group received conventional symptomatic treatment and conventional enteral nutrition intervention, and Gln group received conventional symptomatic treatment and glutamine enteral nutrition intervention. The contents of intestinal mucosal barrier damage markers and inflammatory mediators in serum as well as the expression of inflammatory signaling molecules in peripheral blood were detected before and after treatment;the number of intestinal flora was detected after treatment.Results:After treatment, LPS, DAO, HBD2, TNF-α, sTREM-1, IL-1β and IL-6 levels in serum as well as TLR4, NF-kB, MyD88 and p38MAPK mRNA expression in peripheral blood mononuclear cells of both groups of patients were significantly lower than those before treatment, LPS, DAO, HBD2, TNF-α, sTREM-1, IL-1β and IL-6 levels in serum as well as TLR4, NF-kB, MyD88 and p38MAPK mRNA expression in peripheral blood mononuclear cells of Gln group after treatment were significantly lower than those of control group, and the number of lactobacillus, bifidobacterium and bacteroides were significantly higher than those of control group while the number of escherichia coli and enterococcus were significantly lower than those of control group.Conclusion: Glutamine nutrition support for severe acute pancreatitis can reduce the intestinal mucosal barrier function injury and inhibit the inflammatory response activation.

An Efficient Synthesis of Tertiaryaminomethylphosphonates, A Versatile Precursor for Synthesis of Glyphosate and α-Aminomethylphosphonates

Reaction of simple dialkyl phosphites with symmetrical 1,3,5-trisubstituted hexahydro- triazines (HHTs) in the presence of benzyl chloride, afforded tertiaryaminomethylphosphonates in excellent yields. Glyphosate, a-aminomethylphosphonates and their derivatives can therefore be synthesized by this procedure conveniently.

Energy absorption characteristics of novel high-strength and hightoughness steels used for rock support

Nowadays,the development of novel metallic materials for rock support have attracted research interests since they can significantly improve the deformation and energy absorption capacities of rock bolts.Although previous studies proved the importance and mechanical advantages of utilizing high-strength and high-toughness(HSHT)steels in rock support,there is no systematic analysis to reveal the essential energy absorption parameter and the guidelines for further development of metallic rock support materials.This paper analyzes the energy absorption characteristics of novel HSHT steels(negative Poisson’s ratio(NPR)and twinning-induced plasticity(TWIP)steels)in comparison with conventional rock support materials.A physically based crystal plasticity(CP)model was set up and calibrated to study the effect of strain hardening rate(SHR).Meanwhile,the roles of underlying physical mechanisms,i.e.the dislocation density and twin volume fraction,were studied.The results show that the improvement of energy absorption density(EAD)is essential for further development of rock support materials,besides the increase of energy absorption rate(EAR)for previous development of conventional rock support materials.The increase of EAD requires increases of both strength and deformation capacity of materials.For HSHT steels,the decrease of SHR has a positive effect on the improvement of EAD.In addition,the increase of EAD is followed by the increase of twin volume fraction and the decrease of plastic Poisson’s ratio which can promote deformation plasticity of materials.Meanwhile,the increase of EAR is correlated with the accumulation of dislocation density,which can increase the strength of materials.This paper provides the theoretical basis and guidelines for developing rock support materials in deep underground engineering and other related fields.

Pyrrosia petiolosa内生细菌筛选及其抑菌活性物质分析

为探究Pyrrosia petiolosa内生细菌的抑菌活性,采用植物组织分离和微生物传统培养法从其根、茎、叶共分离检测到内生细菌14株。通过滤纸片抑菌法筛选两株有显著抑菌活性的内生细菌G7、Y12,并借助GC-MS技术对这两株内生细菌进行抑菌活性成分检测与分析。研究表明:两株内生细菌经16S r DNA测序比对分别鉴定为Lysinibacillus sphaericus C3-41和Bacillus amyloliquefaciens FZB42。生长曲线测定结果显示菌株G7、Y12分别在16 h和12 h后进入稳定期。GC-MS检测鉴定到两株内生细菌发酵上清抑菌活性物质主要是有机酸类和2,5-二酮哌嗪衍生物。该研究可为挖掘P.petiolosa内生细菌药物活性、筛选抗菌药物新来源提供参考。

Application of Whole-Process Management in Day Surgery for Endometrial Polyp

Objective:To explore the effect of whole-process management model in nursing management of endometrial polyp day surgery.Methods:266 patients that underwent endometrial polyp day surgery from January to December 2022 were selected for this study,and they were separated into an observation group(131 patients)and a control group(135 patients);the clinical data of the two groups were compared.Results:After intervention,the scores of Hamilton Anxiety Scale(HAM-A)of the patients in the observation group were lower than those in the control group(P<0.05).The rate of postoperative complications in the observation group was lower than that in the control group(P<0.05),and the satisfaction degree of the patients in the observation group was higher than that in the control group(P<0.05).Conclusion:The application of the whole-course management model in endometrial polyp day surgery can alleviate patients’anxiety,ensure the quality and safety of day surgery nursing,and improve patients’satisfaction.

高铁开通与股价同步性:信息效应还是治理效应?

经济主体之间的地理距离是影响信息传递效率的重要因素,交通基础设施建设可以通过重塑空间结构来减少由于地理距离造成的信息损失.本文利用中国高铁开通这一准自然实验,检验了高铁开通影响股价同步性可能存在的信息效应和治理效应.研究发现,高铁开通显著降低了沿线企业的股价同步性,采用安慰剂检验和工具变量法控制内生性问题后该结论依然稳健;作用机理研究表明,高铁开通主要通过信息效应而非治理效应来降低股价同步性;异质性分析发现,在初始交通资源匮乏和信息基础设施薄弱的地区,高铁开通对股价同步性的影响更为显著.本文为新经济地理学和资本市场会计与财务领域的交叉研究提供了有益启示,证实了交通基础设施建设在提升资本市场信息效率方面有着积极作用,为在“一带一路”建设框架下实现区域资本市场的互联互通提供参考.

离子模板交联法调控聚乙烯醇/海藻酸钠水凝胶的可控变形行为

设计了一种通用的离子模板交联法制备了物理交联高强度聚乙烯醇/海藻酸钠(PVA/SA)水凝胶,并可能通过可控的方式实现PVA/SA水凝胶的三维空间变形。对同一块水凝胶选择性交联,利用PVA/SA和PVA/SA/Fe^(3+)水凝胶具有显著的溶胀性差异的特点,通过两步法引导图案化水凝胶局部溶胀和整体弯曲,发生可控变形,得到特定的多样构型。同时,由于水凝胶网络中离子配位具有可逆性,此变形是可逆可重复的。进一步在3D打印中构建在平面梯度和厚度梯度具有各向异性的水凝胶,可实现螺旋、弯曲等可控变形。

不同挡位充气式加温毯用于老年经尿道前列腺电切术患者的效果评价

目的:比较不同挡位充气式加温毯用于老年经尿道前列腺电切术(transurethral resection of prostate,TURP)患者的临床效果。方法:选择东南大学医学院附属江阴医院2021年1月至2022年2月120例老年TURP患者,均采取腰硬联合阻滞,采用随机数字表法均分为对照组(不使用充气式加温毯的常规保温组)、低挡组(充气式加温毯设定为32℃)、中挡组(充气式加温毯设定为38℃)、高挡组(充气式加温毯设定为43℃)。比较阻滞前、阻滞30 min、阻滞60 min、阻滞90 min及术毕各时点各组的鼓膜温度和血流动力学变化[平均动脉压(mean arterial pressure,MAP)、心率(heart rate,HR)],术中低体温发生率、寒战反应程度,观察阻滞前及术毕各组患者的心理状态,包括恐惧情绪[恐惧视觉模拟评分法(fear visual analogue scale,FVAS)]及焦虑情绪[焦虑自评量表(self rating anxiety scale,SAS)]。结果:阻滞前各组的鼓膜温度、FVAS评分及SAS比较差异均无统计学意义(均P>0.05)。相较于对照组,阻滞30 min、阻滞60 min、阻滞90 min及术毕各时点使用充气式加温毯的低挡组、中挡组、高挡组鼓膜温度更高(均P<0.05);相较于低挡组,阻滞60 min、阻滞90 min及术毕3个时点中挡组与高挡组鼓膜温度更高(均P<0.05);中挡组与高挡组鼓膜温度在各时间点比较差异均无统计学意义(均P>0.05)。相较于对照组,阻滞30 min、阻滞60 min、阻滞90 min及术毕各时点使用充气式加温毯的低挡组、中挡组、高挡组的MAP、HR波动更小(均P<0.05);相较于低挡组,阻滞60 min、阻滞90 min及术毕3个时点中挡组与高挡组MAP、HR波动更小(均P<0.05);中挡组与高挡组MAP、HR波动在各时间点比较差异均无统计学意义(均P>0.05)。中挡组与高挡组术中低体温发生率均低于对照组(均P<0.05),高挡组寒战反应程度低于对照组(P<0.05)。中挡组及高挡组术毕FVAS、SAS评分均低于对照组(均P<0.05)。结论:相较于未使用充气毯保温和充气毯设定温度为低挡(32℃)的TURP患者,设定温度在中、高挡(38℃、43℃)的充气式加温毯应用于老年TURP患者的术中保温效果好,可以降低低体温发生率,改善心理状态,减轻恐惧及焦虑的不良情绪。

医院体检中心基于柔性辟谷技术进行全链条闭环式体质量管理工作模式的初步研究

目的探讨基于医院体检中心开展柔性辟谷体质量管理技术的应用研究。方法通过门诊直接招募志愿者,基于柔性辟谷技术建立以"前期体检评估、期间跟踪观察、结束后体检评估、全过程跟踪、阶段性体检评估、减重终点体检评估"的全链条闭环式体质量管理方案,初步评价该模式的可行性。结果柔性辟谷1周后,参与减重的柔性辟谷志愿者的体质量、腰围、体脂肪下降;血糖、血压、电解质钾、钠、氯、心肌酶谱、肝功能指标、肾功能中肌酐、尿素氮等指标均基本在生理范围,心电图正常,尿酮体阳性,尿酸升高,其中尿酸升高与柔性辟谷期间酮体增加相关。结论基于柔性辟谷技术的全链条闭环式体质量管理思路具有良好的可行性。

Synthesis of New Aza-crown Ethers Containing Pyridine Ring and their Liquid Membrane Transport of Alkali Cations

Five new aza-crown ethers have been prepared by the condensation of 2,6-bis[(2-formylphenyl)oxymethyl] pyridine with different diamino compounds in hot methanol, the bis-Schiff bases without isolation were reduced with NaBH4 to afford the corresponding aza-crown ethers. The liquid membrane transport or alkali cations using the five new macrocycles as the ion-carriers was also studied.

Oxidation during the production of FGH4095 superalloy powders by electrode induction-melt inert gas atomization

Super-clean and super-spherical FGH4095 superalloy powder is produced by the ceramic-free electrode inductionmelt inert gas atomization（EIGA） technique.A continuous and steady-state liquid metal flow is achieved at high-frequency（350 k Hz） alternating current and high electric power（100 k W）.The superalloy is immersed in a high-frequency induction coil,and the liquid metal falling into a supersonic nozzle is atomized by an Ar gas of high kinetic gas energy.Numerical calculations are performed to optimize the structure parameters for the nozzle tip.The undesired oxidation reaction of alloying elements starts at 1000℃ with the reaction originating from the active sites on the powder surfaces,leading to the formation of oxides,MexOy.The role of active sites and kinetic factors associated with the diffusion of oxygen present in the atomization gas streams are also examined.The observed results reveal that the oxidation process occurring at the surface of the produced powders gradually moves toward the core,and that there exists a clear interface between the product layer and the reactant.The present study lays a theoretical foundation for controlling the oxidation of nickel-based superalloy powders from the powder process step.

Cr(Ⅲ) removal from simulated solution using hydrous magnesium oxide coated fly ash： Optimization by response surface methodology (RSM)

Hydrous magnesium oxide coated fly ash(MFA) has environmental remediation potential by providing a substrate for the adsorption of aqueous Cr(Ⅲ). Aqueous Cr(Ⅲ) adsorption onto MFA was examined as a function of MFA dosage, p H and initial Cr(Ⅲ) concentration with the Box–Behnken approach used for experimental design and optimization using response surface methodology(RSM). p H and dosage(dosage and concentration) have significant interactive effects on Cr(Ⅲ) adsorption efficiency. Analysis of variance shows that the response surface quadratic model is highly significant and can effectively predict the experimental outcomes. Cr(Ⅲ) removal efficiency of 98% was obtained using optimized conditions of MFA dosage, p H and initial Cr(Ⅲ) concentration of 1.57 g·L^(-1), 4.11 and 126 mg·L^(-1), respectively. Cr(Ⅲ) adsorption onto MFA is mainly attributed to the interaction between Cr(Ⅲ) and the functional group \\OH of the hydrous magnesium oxide, in all probability caused by chemisorptions. The results of this study can conduce to reveal the interactions between Cr(Ⅲ) pollutant and MFA characteristics, posing important implications for the cost-effective alternative adsorption technology in the treatment of heavy metal containing wastewater.

Gear Transmission Fault Classification using Deep Neural Networks and Classifier Level Sensor Fusion

Gear transmissions are widely used in industrial drive systems.Fault diagnosis of gear transmissions is important for maintaining the system performance,reducing the maintenance cost,and providing a safe working environment.This paper presents a novel fault diagnosis approach for gear transmissions based on convolutional neural networks(CNNs)and decision-level sensor fusion.In the proposed approach,a CNN is first utilized to classify the faults of a gear transmission based on the acquired signals from each of the sensors.Raw sensory data is sent directly into the CNN models without manual feature extraction.Then,classifier level sensor fusion is carried out to achieve improved classification accuracy by fusing the classification results from the CNN models.Experimental study is conducted,which shows the superior performance of the developed method in the classification of different gear transmission conditions in an automated industrial machine.The presented approach also achieves end-to-end learning that ean be applied to the fault elassification of a gear transmission under various operating eonditions and with signals from different types of sensors.

湘岭猪不同世代、不同屠宰体重胴体性状和肌肉品质测定分析

试验旨在探讨不同世代、不同屠宰体重湘岭猪胴体性状和肌肉品质的差异。试验选择体重140 kg左右的湘岭猪Ⅰ世代阉公猪4头(组4),进行屠宰测定和肉质评定。另选择前期屠宰的零世代14头湘岭猪的屠宰测定数据作为对照,按宰前活重分为3组,分别为90 kg组(组1)、100 kg组(组2)、125 kg组(组3)。结果表明:1)胴体性状:胴体重、屠宰率、胴体长、三点平均背膘厚和脂率这5个指标有随着屠宰体重的增加而增加的趋势,后腿比有随着屠宰体重的增加而呈降低的趋势。三点均皮厚组4最高,极显著高于其他3组(P<0.01);瘦肉率以组2最高,以组4最低,组4显著或极显著低于其他3组。骨率以组3最低,组1最高,组1极显著高于组2和组3(P<0.01),组4显著高于组3(P<0.05)。2)肉品质:b1h值以组1最低,组2最高,组1显著低于组3和组4(P<0.05);pH24以组4最低,显著低于其他3组(P<0.05);贮存损失以组3最低,组1最高,组1显著高于组2和组3(P<0.05);失水率以组4最低,组2最高,组4极显著低于组2,显著低于组1;熟肉率组1显著高于组2(P<0.05)。综上所述:在这次试验条件下,胴体性状以零世代中90 kg组和100 kg组较好,Ⅰ世代中140 kg组较差;肌肉品质各组均有优劣,整体以零世代中90 kg组和Ⅰ世代中140 kg组较好。

Full filling of mesoporous carbon nanotubes by aqueous solution at room temperature

Carbon nanotubes(CNTs) have the ideal structure to be used as templates for nanomaterials, especially for nanowires,and the tungsten nanowire is an important nanomaterial that is used as a strengthening phase. Therefore, we have proposed to apply mesoporous CNT(mCNT) as a template to prepare tungsten nanowires. However, the tungsten precursor should fill the hollow tube of mCNT firstly, and very few related studies have been reported. In this paper, we have systematically studied the filling process of ammonium metatungstate(AMT) aqueous solution. The results reveal that owing to the mesopores in the mCNT sidewall, the AMT can be encapsulated into the tube at room temperature(RT) and we can fully fill it without destroying the structure. In addition, vibration and solute concentration are also important factors. Besides,the mesoporous sidewall and hollow tubular core structure of mCNT are prerequisites to realize full filling. Furthermore,tungsten nanowires have been obtained after reduction of AMT in mCNTs.

Severe mental disorders following anti-retroviral treatment in a patient on peritoneal dialysis: A case report and literature review

BACKGROUND Antiviral drugs are widely used in populations with viral infection caused by immunologic inadequacy.Because these drugs are mainly metabolized by the kidneys,patients with renal failure undergoing renal replacement therapy are prone to drug adverse effects and poisoning.Severe neurotoxicity caused by antiviral drugs is a rare but life-threatening complication.CASE SUMMARY This study reported one male patient on peritoneal dialysis who suffered from severe mental disorders after receiving an overdose of acyclovir and valacyclovir for the treatment of herpes zoster.The literature review suggested that hemodialysis is better than peritoneal dialysis to clear acyclovir from the circulation.The patient died after his consciousness deteriorated despite peritoneal dialysis and continuous blood purification.CONCLUSION This case emphasizes cautiousness when using anti-retroviral drugs in patients with uremia.Hemodialysis is optimal method to remove the drugs.

Microwave-activated Coupling Reaction on Polyethylene Glycol

The two-step Sonogashira coupling reaction took place rapidly under microwave activation conditions. PEG bound substrates acted as PTC and polymer support as well. Its yields are 80~90% and the products are in high purity.

Synthesis, Structure and Transesterification of the Derivatives of β-Alkoxycarbonylethyltin Trichlorides with Diethyldithiocarbamate

The derivatives of β-alkoxycarbonylethyltin trichlorides with diethyldithiocarbamate,ROCOCH2CH2Sn(S2CNEt2)Cl2, were synthesized and characterized by the means of elemental analysis, IR, 1H NMR and X-ray single crystal diffraction. The structural features of the compounds were described, and the possible mechanism of transesterification for compound 2a was suggested.