云南6个特有少数民族成人维生素D营养状况分析

目的分析云南6个特有少数民族成人维生素D营养状况及相关因素。方法2019年5月至2020年8月,在基诺族、布朗族、景颇族、德昂族、阿昌族和普米族聚居地按照第六次全国人口普查的年龄和性别构成共抽取690名成人。由经过培训的调查员进行问卷调查和体格测量,并采用液相色谱串联质谱法检测血清25羟维生素D[25(OH)D]。结果调查对象血清25(OH)D中位数为28.7(P25~P75∶24.3~33.8)ng/mL;维生素D充足、不足和缺乏的比例分别为44.2%、47.5%和8.3%。各民族成人血清维生素D水平差异存在统计学意义(χ^(2)=139.29,P<0.01)。多因素Logistic回归分析显示,居住地纬度相对较高的普米族、景颇族、德昂族和阿昌族,女性以及超重肥胖者更易出现维生素D不足或缺乏。结论超过一半的云南特有少数民族成人面临着维生素D营养不良的问题,且各民族间存在差异,应进一步加强对重点地区和人群的监测和干预。

云南特有少数民族成人维生素A营养状况分析

目的 分析云南特有少数民族成人维生素A(VA)营养状况,为制定合理膳食促进措施提供科学依据。方法 在2016年至2020年,按第六次全国人口普查的性别和年龄结构,抽取独龙族等7个民族共841名成人。通过高效液相色谱法检测血清VA水平,并按WHO推荐标准进行判定;通过膳食调查计算VA摄入量,并按膳食指南推荐标准进行评价。结果 调查对象血清VA水平为0.55(0.44~0.68) mg/L,且存在显著的性别、民族、文化和收入差异(P <0.05)。VA缺乏率为0.7%,边缘缺乏率为3.7%。膳食VA摄入量中位数为406.0μg视黄醇当量,其中67.0%的调查对象VA摄入低于平均需要量。86.6%的膳食VA来源于深色蔬菜、蛋类、浅色蔬菜和畜禽肉类。结论 云南特有少数民族的血清VA相对充足,但VA膳食摄入状况仍有待改善,特别是在某些民族和老年、低收入人群中。

Performance Deterioration Analysis of the Used Gear Oil

In the present paper, we have investigated the tribological properties and microstructure of the used gear oil theoretically and experimentally. The deterioration process of the in-service gear lubricant oils was also discussed. The viscosity and microstructure of oils running different mileages were analyzed by viscometer and Fourier Transform Infrared Spectroscopy (FTIR), respectively. In addition, the friction and wear behaviors of the friction pair of the GCr15 steel ball and disc were investigated using a ball on disc tribometer under different mileages’ gear oils lubrication conditions. These techniques give reproducible and reliable data with which to evaluate the severity of deterioration process of oils. The objective of this work is to understand the deterioration process of gear oil and analyze the influence of deterioration on the performance and microstructure of lubricant oils used in gear box. Possible explanations of deterioration process as well as its influence on friction and wear behaviors are also discussed. The results reveals the tribological properties of used oils depended on strongly the microstructure and its deterioration process of oil.

Stattic影响急性髓系白血病细胞DNA损伤修复与凋亡

目的探讨STAT3抑制剂Stattic对急性髓系白血病(AML)U937与HL60细胞株的增殖、凋亡及DNA损伤修复的影响。方法分别以不同浓度Stattic处理U937与HL60细胞24h,以细胞增殖-毒性检测试剂(CCK8)法检测白血病细胞的增殖活性;以流式细胞技术检测白血病细胞凋亡、细胞周期、DNA损伤以及DNA损伤修复情况。结果U937与HL60的增殖活性随着Stattic浓度的升高而减弱(P均<0.05)。1、2.5、5μM的Stattic均可诱导HL60细胞凋亡增加(P<0.001);而U937仅在2.5、5μM浓度的Stattic处理后细胞凋亡才增加(P<0.001),2种AML细胞凋亡比率均随着Stattic药物浓度增大而增加。2.5、5μM浓度的Stattic可将U937细胞周期阻滞在G2/M期(P<0.05),同时G0/G1期百分比下降(P<0.01)。1、2.5μM浓度的Stattic将HL60细胞周期阻滞在S期,同时G2/M期及G1/G0期百分比下降(P<0.05)。HL60细胞在Stattic 5μM时,SubG1百分比升高。经依托泊苷诱导DNA双链断裂后6h,Stattic处理后的U937与HL60细胞中γ-H2AX荧光强度仍维持在较高水平(P均<0.001)。结论Stattic可能通过诱导白血病细胞发生DNA损伤并阻碍其修复进而促进细胞凋亡。

Roux-en-Y gastric bypass for Chinese type 2 diabetes mellitus patients with a BMI,28kg/m^2:a multi-institutional study

Roux-en-Y gastric bypass surgery（RYGB） has been demonstrated to be successful for treating type-II diabetes2mellitus（T2DM） patients with a body mass index（BMI）,30 kg/m,but reports of RYGB for T2 DM patients with22 a BMI,28 kg/mare lacking.T2 DM patients with a BMI,28 kg/mwere prospectively recruited to participate in this study in four hospitals.The endpoint was T2 DM remission（defined by fasting blood glucose（FBG） level,110 mg/d L and hemoglobin（Hb）A1c level,6.0% at 12 months postoperatively）.Predictors of remission were investigated by univariate and multivariate analyses.Eighty-six patients were assessed.Eighty-five patients underwent RYGB,with one conversion to open surgery.We compared the values of various variables before and after2 surgery.The mean BMI decreased from 24.68±2.12 to 21.72±2.43 kg/m（P,0.001）.Fifty-eight（67.4%） patients were not treated by drugs or insulin after surgery,and 20 patients（23.3%） had complete remission of T2 DM at12 months after surgery with an acceptable number of complications.The mean Hb A1 c level in the remission group was significantly lower than that in the non-remission group.Patients with a higher weight,lower Hb A1 c level,higher C-peptide level,and higher FBG level were more likely to have T2 DM remission in multivariate2 analyses.In conclusion,RYGB was effective and safe for treating T2 DM patients with a BMI,28 kg/m.Complete remission can be predicted by cases having a higher weight,lower Hb A1 c level,higher C-peptide level,and higher FBG level.

Hydrolysis hydrogen production mechanism of Mg10Ni10Ce alloy surface modified by SnO_(2) nanotubes in different aqueous systems

(Mg-10wt%Ni)-10wt%Ce(Mg10Ni10Ce)was ball-milled with SnO_(2)nanotubes and Mg10Ni10Ce-xSnO_(2)(x¼0,5,10 and 15 wt%)composites have been prepared.The phase compositions,microstructures,morphologies and hydrolysis H2 generation performance in different aqueous systems(distilled water,tap water and simulated seawater)have been investigated and the corresponding hydrolysis mechanism of Mg10Ni10Ce and Mg10Ni10CeeSnO_(2)has been proposed.Adding a small amount of SnO_(2)nanotubes can significantly enhance the hydrolysis reaction of Mg10Ni10Ce,especially the initial hydrolysis kinetics and the final H_(2) generation yield.Unfortunately,the Mg10Ni10Ce-xSnO_(2)hardly reacts with distilled water at room temperature.The hydrolysis reaction rate of Mg10Ni10Cee5SnO_(2)composite in tap water is still very slow with only 17.3%generation yield after 1 h at 303 K.Fortunately,in simulated seawater(3.5 wt%NaCl solution),the hydrolytic H2 generation behavior of the Mg10Ni10Cee5SnO_(2)composite has been greatly improved,which can release as high as 468.6 mL g^(-1 )H_(2) with about 60.9%generation yield within 30 s at 303 K.The Cl destroys the passivation layer on MgeNieCe alloy surface and the added SnO_(2)nanotubes accelerate the hydrolysis reaction rate and enhance the H2 generation yield.The Mg10Ni10Cee5SnO_(2)composite can rapidly generate a large amount of H2 in simulated seawater in a short time,which is expected to be applied on portable H2 generators in the future.

H_2 generation kinetics/thermodynamics and hydrolysis mechanism of high-performance La-doped Mg-Ni alloys in Na Cl solution——A large-scale and quick strategy to get hydrogen

In this work,La-doped Mg-Ni multiphase alloys were prepared by resistance melting furnace(RMF)and then modified by high-energy ball milling(HEBM).The hydrolysis H_(2) generation kinetics/thermodynamics of prepared alloys in Na Cl solutions have been investigated with the help of nonlinear and linear fitting by Avrami-Erofeev and Arrhenius equations.Combining the microstructure information before and after hydrolysis and thermodynamics fitting results,the hydrolysis H_(2) generation mechanism based on nucleation&growth has been elaborated.The final H_(2) generation capacities of 0La,5La,10La and 15 La alloys are 677,653,641 and 770 m L·g^(-1)H_(2) in 240 min at291 K,respectively.While,the final H_(2) generation capacities of HEBM 0La,5La,10La and 15 La alloys are 632,824,611 and 653 m L·g^(-1)H_(2) in 20 min at 291 K,respectively.The as-cast 15La alloy and HEMB 5La alloy present the best H_(2) production rates and final H_(2) production capacities,especially the HEBM 5La can rapidly achieve high H_(2) generation capacity(670 and 824 m L·g^(-1)H_(2) )at low temperature(291 K)within short time(5 and 20 min).The difference between the H_(2) generation capacities is mainly originated from the initial nucleation rate of Mg(OH)_(2) and the subsequent processes affected by the microstructures and phase compositions of the hydrolysis alloys.Relative low initial nucleation rate and fully growth of Mg(OH)_(2) nucleus are the premise of high H_(2) generation capacity due to the hydrolysis H_(2) generation process consisted by the nucleation,growth and contacting of Mg(OH)_(2) nucleus.To utilization H_(2) by designing solid state H_(2) generators using optimized Mg-based alloys is expected to be a feasible H_(2) generation strategy at the moment.

Texture Evolution in Heavily Cold-Rolled FeCo-2V Alloy during Annealing

The recrystallization texture evolution in heavily cold-rolled （93%） FeCo-2V alloy with annealing temperature and time was investigated by X-ray diffraction and electron backscatter diffraction. It was found that the orientation density of α-fiber texture component fluctuates with increasing annealing temperature and time. The transmission electron microscopy images show that abundant precipitates appear inside the recrystallized grains and around the grain boundaries. The amount and size of the precipitates also vary with annealing temperature and time. The enhancement of the α-fiber coincides well with the increase of number density of fine precipitates, indicating that the fine precipitates facilitate the development of α-fiber. The annealing texture evolution observed in the FeCo alloy could be attributed to the facilitating effect of the precipitates on the development of α-fiber and the ordering process.

Dynamic tracking of exsolved PdPt alloy/perovskite catalyst for efficient lean methane oxidation

Supported Pd based catalysts are considered as the efficient candidates for low-carbon alkane oxidation for their outstanding capability to break C-H bond. Whereas, the irreversible deactivation of Pd based catalysts was still frequently observed. Herein, we reinforced the extruded Pd nanoparticles with quantitive Pt to assemble the evenly distributed Pd Pt nanoalloy onto ferrite perovskite(Pd Pt-LCF) matrix with strengthened robustness of metal/oxide support interface. We further co-achieved the enhanced performance, anti-overoxidation as well as resistance of vapor-poisoning in durability measurement. The operando X-ray photoelectron spectroscopy(O-XPS) combined with various morphology characterizations confirms that the accumulation of surface deep-oxidation species of Pd^(4+) is the culprit for fast activity loss in exsolved Pd system, especially at high temperature of 400 ℃. Conversely, it could be completely suppressed by in-situ alloying Pd with equal amount of Pt, which helps maintain the metastable Pd^(2+)/Pd shell and metallic solid-solution core structure. The density function theory(DFT) calculations further buttress that the dissociation of C–H was facilitated on alloy/perovskite interface which is, on the contrary, resistant toward O–H bond cleavage, as compared to Pd/perovskite. Our work suggests that the modification of exsolved metal/oxide catalytic interface could further enrich the toolkit of heterogeneous catalyst design.

One-step post-treatment boosts thermoelectric properties of PEDOT:PSS flexible thin films

Developing high-performance poly(3,4-ethylenedioxythiophene):poly(styrene sulfonate)(PEDOT:PSS)sig-nificantly widens the practical applications of flexible organic thermoelectric devices,while the water-based co-solvent dopants and/or post-treatments are still rarely studied so far.Here,we develop a one-step post-treatment to improve the power factor of PEDOT:PSS films by using a water-based solution,which is composed of co-solvent(polar solvent dimethylacetamide(DMAC)and deionized water)and organic reducing agent L-ascorbic acid(LAA).The 80 vol.%DMAC solution significantly boosts the room-temperature electrical conductivity of the films from 5 to 964 S cm^(−1),while the Seebeck coefficient can be further enhanced from 18.7 to 25μV K−1 by treating with 0.5 mol L−1 LAA,contributing to a sig-nificantly improved power factor of 55.3μW m^(−1)K^(−2).The boosted electrical conductivity is ascribed to the separated PEDOT and PSS phases triggered by the high dielectric constant and polarity of DMAC;while the improved Seebeck coefficient is attributed to the reduced oxidation degree of PEDOT from the reducing agent LAA,both confirmed by the comprehensive structural and morphological characteri-zations.Furthermore,a maximum power factor of 64.4μW m^(−1)K^(−2)can be achieved at 360 K and the observed temperature-dependent electrical transport behavior can be well explained by the Mott variable range hopping model.Besides,a flexible thermoelectric device,assembled by the as-fabricated PEDOT:PSS films,exhibits a maximum output power of∼23 nW at a temperature difference of 25 K,indicating the potential for applying to low-grade wearable electronics.

Laser-ablated violet phosphorus/graphene heterojunction as ultrasensitive ppb-level room-temperature NO sensor

Two dimensional(2D)materials are promising gas sensing materials,but the most of them need to be heated to show promising sensing performance.Sensing structures with high sensing performance at room-temperature are urgent.Here,another 2D material,violet phosphorus(VP)nanoflake is investigated as gas sensing material.The VP nanoflakes have been effectively ablated to have layers of 1–5 layers by laser ablation in glycol.The VP nanoflakes are combined with graphene to form VP/G heterostructuresbased NO sensor.An ultra-high gauge factor of 3×10^(7)for ppb-level sensing and high resistance response of 59.21%with ultra-short recovery time of 6s for ppm-level sensing have been obtained.The sensing mechanism is also analysed by density functional theory(DFT)calculations.The adsorption energy of VP/G is calculated to be-0.788 e V,resulting in electrons migration from P to N to form a P-N bond in the gap between VP and graphene sheet.This work provides a facile approach to ablate VP for mass production.The as-produced structures have also provided potential gas sensors with ultrasensitive performance as ppb-level room-temperature sensors.

Advances in component and operation optimization of solid oxide electrolysis cell

Considering the earth powered by intermittent renewable energy in the coming future,solid oxide electrolysis cell(SOEC)will play an indispensable role in efficient energy conversion and storage on demand.The thermolytic and kinetic merits grant SOEC a bright potential to be directly integrated with electrical grid and downstream chemical synthesis process.Meanwhile,the scientific community are still endeavoring to pursue the SOEC assembled with better materials and operated at a more energy-efficient way.In this review article,at cell level,we focus on the recent development of electrolyte,cathode,anode and buffer layer materials for both steam and CO_(2)electrolysis.On the other hand,we also discuss the next generation SOEC operated with the assistant of other fuels to further reduce the energy consumption and enhance the productivity of the electrolyzer.And stack level,the sealant,interconnect and stack operation strategies are collectively covered.Finally,the challenges and future research direction in SOECs are included.

Recent Advances in Activatable Probes for Molecular Imaging by Stimuli-Controlled Disassembly

Comprehensive Summary,Stimuli-controlled disassembly process has shown promise to direct delivery of probes and/or spatial-temporally control imaging signals for molecular imaging in vivo.Via the disassembly process,well defined nanoprobes with a stimulus-responsive moiety can be controllably converted into small-molecular imaging agents in response to a stimulus,leading to a switch in imaging signals.Moreover,the on-site released small-molecule probes could enhance penetration into the deep tissue for improved imaging of deep-seated molecular targets.Therefore,such a stimuli-controllable disassembly approach has been widely utilized to build activatable molecular imaging probes for the noninvasive detection of various molecular targets in living subjects.In this review article,we first briefly introduce the general principle of stimuli-controlled disassembly.We then summarize the activatable probes based on different internal or external stimulus that has been utilized to control disassembly process.Activatable probes by using multiple stimuli to control cascaded in situ self-assembly and disassembly processes are also discussed.Finally,we close with a conclusion of current challenges and perspective in this field.

Optimized coagulation pretreatment alleviates ultrafiltration membrane fouling: The role of floc properties and slow-mixing speed on mechanisms of chitosan-assisted coagulation

To alleviate ultrafiltration(UF) membrane fouling, the pre-coagulation of poly-aluminum chloride(PACl) with the aid of chitosan(CTS) was conducted for synthetic humic acid–kaolin water treatment. Pre-coagulation of three molecular weights(MW) CTSs(50–190 kDa(CTSL), 190–310 kDa(CTSM) and 310–375 kDa(CTSH)) was optimized with slow-mixing speeds of 30, 60 and 90 r/min, respectively. The removal efficiency and floc properties as well as membrane fouling were analyzed, and were compared to results obtained by conventional coagulation with PACl. Results showed that variations in floc properties could be ascribed to the coagulation mechanisms of CTS_L/CTS_M/CTS_H at different slow-mixing speeds, resulting in reduced UF membrane fouling. Specifically, at the low speed of 30 r/min, all three CTS types produced flocs with similar properties, while CTSLresulted in the lowest removal efficiency and aggravated irreversible fouling. At the appropriate speed of 60 r/min, CTSMgenerated the most compact flocs with the combined effects of bridging and path mechanisms. The compact cake layer formed could alleviate irreversible fouling,which was beneficial for prolonging the operation of the UF membrane. At the high speed of90 r/min, CTSHformed fragile flocs and aggravated irreversible membrane fouling. We considered membrane fouling to be affected by floc properties and the resultant removal efficiency, which was governed by the MW of the CTS used and the slow-mixing speed applied as well.

Full-spectrum responsive photocatalytic activity via non-noble metal Bi decorated mulberry-like BiVO_(4)

Due to its appropriate bandgap(~2.4 e V)and efficient light absorption,bismuth vanadate(Bi VO_(4))shows promising photocatalysis activity.However,the charge carrier recombination and poor electron transmission often induce poor photocatalytic performance.Herein,we report a new method to in-situ synthesize non-noble metal Bi decorated mulberry-like Bi VO_(4)by a two-step calcination process.Comprehensive characterizations reveal that non-noble metal Bi nanoparticles grown in-situ on Bi VO_(4)result in the red-shift of the absorbance edge,greatly extending the light absorption from the ultraviolet into the near-infrared region.The surface plasmon resonance excitation of Bi nanoparticles and synergetic effects between Bi and Bi VO_(4)effectively improve the photocatalytic efficiency and promote the separation of photoinduced electron-hole pairs in mulberry-like Bi VO_(4).Density functional theory(DFT)calculation results further verify that the electrons are transferred from Bi to Bi VO_(4)and the formation of·OH radical in Bi/Bi VO_(4)is attributed to the lower simulated free energy,which supports our experimental outcomes.This work provides a novel strategy to enhance light absorption and promote efficient solar utilization of photocatalysts for practical applications.

Coagulation efficiency and flocs characteristics of recycling sludge during treatment of low temperature and micro-polluted water

Drinking water treatment sludge,characterized as accumulated suspended solids and organic and inorganic matter,is produced in large quantities during the coagulation process.The proper disposal,regeneration or reuse of sludge is,therefore,a significant environmental issue.Reused sludge at low temperatures is an alternative method to enhance traditional coagulation efficiency.In the present study,the recycling mass of mixed sludge and properties of raw water （such as pH and turbidity） were systematically investigated to optimize coagulation efficiency.We determined that the appropriate dosage of mixed sludge was 60 mL/L,effective initial turbidity ranges were below 45.0 NTU,and optimal pH for DOMs and turbidity removal was 6.5-7.0 and 8.0,respectively.Furthermore,by comparing the flocs characteristics with and without recycling sludge,we found that floc structures with sludge were more irregular with average size growth to 64.7 μm from 48.1 μm.Recycling sludge was a feasible and successful method for enhancing pollutants removal,and the more irregular flocs structure after recycling might be caused by breakage of reused flocs and incorporation of powdered activated carbon into larger flocs structure.Applied during the coagulation process,recycling sludge could be significant for the treatment of low temperature and micro-polluted source water.

Thermoelectric performance enhancement by manipulation of Sr/Ti doping in two sublayers of Ca_(3)Co_(4)O_(9)

Thermoelectric(TE)performance of Ca_(3)Co_(4)O_(9)(CCO)has been investigated extensively via a doping strategy in the past decades.However,the doping sites of different sublayers in CCO and their contributions to the TE performance remain unrevealed because of its strong correlated electronic system.In this work,Sr and Ti are chosen to realize doping at the[Ca_(2)CoO_(3)]and[CoO_(2)]sublayers in CCO.It was found that figure of merit(ZT)at 957 K of Ti-doped CCO was improved 30% than that of undoped CCO whereas 1 at% Sr doping brought about a 150% increase in ZT as compared to undoped CCO.The significant increase in electronic conductivity and the Seebeck coefficient are attributed to the enhanced carrier concentration and spin-entropy of Co^(4+) originating from the Sr doping effects in[Ca_(2)CoO_(3)]sublayer,which are evidenced by the scanning electron microscope(SEM),Raman,Hall,and X-ray photoelectron spectroscopy(XPS)analysis.Furthermore,the reduced thermal conductivity is attributed to the improved phonon scattering from heavier Sr doped Ca site in[Ca_(2)CoO_(3)]sublayer.Our findings demonstrate that doping at Ca sites of[Ca_(2)CoO_(3)]layer is a feasible pathway to boost TE performance of CCO material through promoting the electronic conductivity and the Seebeck coefficient,and reducing the thermal conductivity simultaneously.This work provides a deep understanding of the current limited ZT enhancement on CCO material and provides an approach to enhance the TE performance of other layered structure materials.

Construction of SnS2/SnO2 heterostructures with enhanced potassium storage performance

Increasing attention has been focused on potassium ion batteries(KIBs) as promising energy-sto rage system(ESS) owing to the abundance and low-cost of potassium resources.Here,SnS2/SnO2 hete rostructures were successfully fixed onto stainless steel mesh(SnS2/SnO2/SSM) through a facile two-step hydrothermal method and used as anodes for KIBs.Due to the advantages of SnS2/SnO2 heterostructures and good conductivity of SSM substrate,the SnS2/SnO2/SSM anodes display enhanced electrochemical performance.The SnS2/SnO2/SSM anodes deliver specific capacity of 394 mA h g^-1 at 50 mA g^-1 over 100 cycles,better than SnO2/SSM.Even at 500 mA g^-1 after 250 cycles,high capacity of 155 mA h g^-1 can still be obtained.

Mink Circovirus Can Infect Minks, Foxes and Raccoon Dogs

Dear Editor,Mink circovirus (MiCV), which is clustered in the genus Circovirus of the family Circoviridae, was first described in minks from farms in Dalian, China in 2013 (Lian et al.2014). The complete single-stranded circular genome of the virus is 1,753 nucleotides long and contains two major open reading frames (ORFs), designated ORF1 (Rep gene)and ORF2 (Cap gene)(Lian et al. 2014;Ge et al. 2018).

Clinical phenotype features and genetic etiologies of 38 children with progressive myoclonic epilepsy

Background:Progressive myoclonic epilepsy(PME)is a group of neurodegenerative diseases with genetic heterogeneity and phenotypic similarities,and many cases remain unknown of the genetic causes.This study is aim to summarize the clinical features and study the genetic causes of PME patients.Methods:Sanger sequencing of the target gene,Next Generation Sequencing(NGS)panels of epilepsy,trio-based Whole Exome Sequencing(WES)and detection of cytosine-adenine-guanine(CAG)repeat number were used to investigate the genetic causes of PME patients.Results:Thirty-eight children with PME whose seizure onset age ranged from 3 months to 12 years were collected from February 2012 to November 2019 in three hospitals in Beijing,China.The seizure types included myoclonic seizures(n=38),focal seizures(n=19),generalized tonic-clonie seizure(GTCS)(n=13),absence seizures(n=4),atonic seizures(n=3),epileptic spasms(n=2)and tonic seizures(n=1).Twenty-seven cases were sporadic and 11 had family members affected.Established PME-related genes were identified in 30 out of 38(78.9%)patients who had either recessively inherited or de novo heterozygous mutations.Among these 30 cases,there were 12 cases(31.6%)of neuronal ceroid lipofuscinoses(the causing gene contains TPP1,PPT1,CLN5,CLN6 and MFSD8),two cases of sialidosis(the causing gene is NEU1),two cases of neuronopathic Gaucher disease(the causing gene is GBA),one case of spinal muscular atrophy-progressive myoclonic epilepsy(the causing gene is ASAH1),four cases of KCNC1 mutation-related PME,four cases of KCTD7 mutation-related PME,two cases of TBC1D24 mutation-related PME,one case of GOSR2 related PME,and two of dentatorubral-pallidoluysian atrophy(the causing gene is ATN1).In total,13 PME genes were identified in our cohort.The etiology was not clear in eight patients.Conclusion:PME is a group of clinically and genetically heterogeneous diseases.Genetic diagnosis was clear in 78.9%of PME patients.Various of genetic testing methods could increase the rate of genetic diagnosis.Neuronal ceroid lipofuscinoses(NCL)is the most common etiology of PME in children.Nearly one third PME children were diagnosed with NCL.GOSR2 related PME was in our cohort in Asia for the first time.