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Genetic Analysis of 17 Children with Hunter Syndrome:Identification and Functional Characterization of Four Novel mutations in the Iduronate-2-Sulfatase Gene

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Journal of Genetics and Genomics 2014年第4期41卷 197-203页

作者： Dimitry A.Chistiakov lyudmila m.kuzenkova Kirill V.Savost’anov Anait K.Gevorkyan Alexander A.Pushkov Alexey G.Nikitin Nato D.Vashakmadze Natalia V.Zhurkova Tatiana V.Podkletnova Leila S.Namazova-Baranova Alexander A.Baranove Department of medical Nanobiotechnology Pirogov Russian State Medical University Department of molecular and Genetic Diagnostics Division of Laboratory MedicineInstitute of PediatricsResearch Center for Children’s Health Department of Psychoneurology and Psychosomatic Pathology Institute of PediatricsResearch Center for Children’s Health Institute of Preventive Pediatrics and Rehabilitation Research Center for Children’s Health Research Center for Children’s Health

mucopolysaccharidosis type II （mPS II） is a rare X-linked disorder caused by alterations in the iduronate-2-sulfatase （IDS） gene. In this study, IDS activity in peripheral mononuclear blood monocytes （PmBCs） was measured with a fluorimetric enzyme assay. Urinary glycosaminoglycans （GAGs） were quantified using a colorimetric assay. All IDS exons and intronic flanks were bidirectionally sequenced. A total of 15 mutations （all exonic region） were found in 17 mPS II patients. In this cohort of mPS II patients, all alterations in the IDS gene were caused by point nucleotide substitutions or small deletions. mutations ***88His and ***172＊ occurred twice. All mu- tations were inherited except for ***489Alafs＊7, a germline mutation. We found four new mutations （***142Phe, ***233Gly, ***430＊, and ***360Tyrfs＊31）. In Epstein-Barr virus （EBV）-immortalized PmBCs derived from the mPS II patients, no IDS protein was detected in case of the ***142Phe and ***360Tyrfs＊31 mutants. For ***233Gly and ***430＊, we observed a residual expression of IDS. The ***233Gly and ***430＊ mutants had a residuary enzymatic activity that was lowered by 14.3 and 76-fold, respectively, compared with healthy controls. This observation may help explain the mild disease phenotype in mPS II patients who had these two mutations whereas the ***142Phe and ***360Tyrfs＊31 mutations caused the severe disease manifestation.

关键词： Hunter syndrome mucopolysaccharidosis type II Iduronate-2-sulfatase mutations Glycosaminoglycans

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Efficient algorithm for big data clustering on single machine

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CAAI Transactions on Intelligence Technology 2020年第1期5卷 9-14页

作者： Rasim m.Alguliyev Ramiz m.Aliguliyev lyudmila V.Sukhostat Institute of Information Technology Azerbaijan National Academy of Sciences9AB.Vahabzade StreetAZ1141 BakuAzerbaijan

Big data analysis requires the presence of large computing powers, which is not always feasible. And so, itbecame necessary to develop new clustering algorithms capable of such data processing. This study proposes a newparallel clustering algorithm based on the k-means algorithm. It significantly reduces the exponential growth ofcomputations. The proposed algorithm splits a dataset into batches while preserving the characteristics of the initialdataset and increasing the clustering speed. The idea is to define cluster centroids, which are also clustered, for eachbatch. According to the obtained centroids, the data points belong to the cluster with the nearest centroid. Real largedatasets are used to conduct the experiments to evaluate the effectiveness of the proposed approach. The proposedapproach is compared with k-means and its modification. The experiments show that the proposed algorithm is apromising tool for clustering large datasets in comparison with the k-means algorithm.

关键词： algorithm. algorithm batch

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阿尔泰-萨彦山的新构造运动和区域控震断裂的再活化

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地学前缘 2021年第5期28卷 301-319页

作者： mikhail m.BUSLOV lyudmila P.ImAEVA Sobolev V.S.Institute of Geology and mineralogy Siberian Branch of the RAS630090 NovosibirskRussia Kazan Federal University 420008KazanRussia Institute of the Earth's Crust Siberian Branch of RAS664033 IrkutskRussia Academy of Sciences of the Republic of Sakha(Yakutia) 677007 YakutskRussia

阿尔泰-萨彦山系和新构造结构的形成被认为是印度欧亚板块碰撞带来的远程陆内变形的结果。在本次构造模型中,我们对地质、地震活动数据和地形资料进行了联合分析,认为中亚山带北部地形和地震活动的最大变化仅限于晚古生代区域断层的交... 详细信息

阿尔泰-萨彦山系和新构造结构的形成被认为是印度欧亚板块碰撞带来的远程陆内变形的结果。在本次构造模型中,我们对地质、地震活动数据和地形资料进行了联合分析,认为中亚山带北部地形和地震活动的最大变化仅限于晚古生代区域断层的交叉地带。断层的交叉和接合处应被视为增加基底破碎程度、影响局部应力场变化和预先定位m≥5级的地震震源的最重要的构造因素之一。由此,结合Charysh Terekta和Kurai区域断层交叉带出现的氦和钙华,本次研究获得了发震前兆的一些判断规律。

关键词：阿尔泰-萨彦山 Kurai-Chuya盆地活动构造 2003年9月27日的阿尔泰地震断层活化控震断层

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Construction of RNA nanotubes

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Nano Research 2019年第8期12卷 1952-1958页

作者： Hui Li Shaoying Wang Zhouxiang Ji Congcong Xu lyudmila S. Shlyakhtenko Peixuan Guo Center for RNA Nanobiotechnology and Nanomedicine Division of Pharmaceutics and Pharmaceutical ChemistryCollege of Pharmacy/Department of Physiology & Cell BiologyCollege of Medicine/Dorothy M. Davis Heart and Lung Research Institute and James Comprehensive Cancer CenterThe Ohio State UniversityColumbusOH43210USA UNmC Nanoimaging Core Facility Department of Pharmaceutical SciencesCollege of Pharmacy University of Nebraska Medical CenterOmahaNE68182USA Present address: University of California San FranciscoCA94158USA Present address: P&Z Biological Technology NewarkNJ07103USA

Nanotubes are miniature materials with significant potential applications in nanotechnological, medical, biological and material sciences. The quest for manufacturing methods of nano-mechanical modules is in progress. For example, the application of carbon nanotubes has been extensively investigated due to the precise width control, but the precise length control remains challenging. Here we report two approaches for the one-pot self-assembly of RNA nanotubes. For the first approach, six RNA strands were used to assemble the nanotube by forming a 11 nm long hollow channel with the inner diameter of 1.7 nm and the outside diameter of 6.3 nm. For the second approach, six RNA strands were designed to hybridize with their neighboring strands by complementary base pairing and formed a nanotube with a six-helix hollow channel similar to the nanotube assembled by the first approach. The fabricated RNA nanotubes were characterized by gel electrophoresis and atomic force microscopy (AFm), confirming the formation of nanotube-shaped RNA nanostructures. Cholesterol molecules were introduced into RNA nanotubes to facilitate their incorporation into lipid bilayer. Incubation of RNA nanotube complex with the free-standing lipid bilayer membrane under applied voltage led to discrete current signatures. Addition of peptides into the sensing chamber revealed discrete steps of current blockage. Polyarginine peptides with different lengths can be detected by current signatures, suggesting that the RNA-cholesterol complex holds the promise of achieving single molecule sensing of peptides.

关键词： RNA nanotechnology peptide sensing RNA nanotube nanobiotechnology

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Periodical zonal character of damage near the openings inhighly-stressed rock mass conditions

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Journal of Rock mechanics and Geotechnical Engineering 2016年第2期8卷 164-169页

作者： Vladimir Vmakarov mikhail AGuzev Vladimir NOdintsev lyudmila SKsendzenko Far-Eastern Federal University VladivostokRussia Russian Academy of Sciences MoscowRussia

Rock mass damage at great depths near underground openings is often of a zonal ***,the classical elastoplastic theory fails to explain sufficiently all properties of zonal failure structures.A new non-Euclidean mathematical model for highly-stressed rock mass was developed based on the principles of mechanics of defected material and non-equilibrium *** were developed to determine model parameters that provide satisfactory correspondence between the experimental findings concerning faulted zonal structures near openings at great depths and mathematical *** mechanism of this phenomenon was discovered which consisted in a periodical character of stresses in the surrounding rock mass and development of tensile macrocracks at zones of maximal tangential *** relationships between the cracking zone width and rock mass strength were established.

关键词： Rock failure Openings Zones modeling

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Kinetics and mechanism of natural wolframite interactions with sodium carbonate

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International Journal of minerals,metallurgy and materials 2019年第11期26卷 1364-1371页

作者： Evgeniy Nikolaevich Selivanov Kirill Vladimirovich Pikulin lyudmila Ivanovna Galkova Roza Iosifovna Gulyaeva Sofia Aleksandrovna Petrova Institute of metallurgy of the Ural Branch of the Russian Academy of Sciences

The kinetics and mechanism of natural wolframite interactions with sodium carbonate during air heating were studied.X-ray phase and X-ray microanalysis were used to establish that the initial monocrystalline wolframite consists of Fe0.5 mn0.5 WO4 and Fe0.3 mn0.7 *** thermal analysis showed that the interaction of wolframite with sodium carbonate begins above 450°C with the formation of tungstate,sodium ferrite,iron oxides,and *** experiments on sintering with the subsequent removal of water-soluble compounds(leaching)tracked the change in the structure of *** atomic ratio of Fe/mn in wolframite does not change up to 600°C,and subsequently decreases to 0.2 during heating,which allows the mechanism of the process to be identified and indicates the greater reactivity of wolframites with an increased proportion of *** analysis with data processing using non-isothermal kinetics established that the interaction of wolframite with sodium carbonate in an air stream proceeds via a two-stage mechanism,wherein the first stage is limited by diffusion(activation energy,E=243 kJ/mol)and the second stage is limited by autocatalysis(activation energy,E=212 k J/mol)due to the formation of a Na2 WO4–Na2 CO3 eutectic.

关键词： wolframite structure sodium carbonate sintering thermal analysis kinetics

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Chondroitin sulfate and glucosamine combination in patients with knee and hip osteoarthritis:A long-term observational study in Russia

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World Journal of Orthopedics 2023年第6期14卷 443-457页

作者： Alexander m Lila lyudmila I Alekseeva Andrey A Baranov Elena A Taskina Natalya G Kashevarova Natalia A Lapkina Evgeny A Trofimov Director Research Institute of Rheumatology Named after VA NasonovaMoscow 115522MoscowRussia Bone and Joints metabolic Diseases Laboratory Research Institute of Rheumatology Named after VA NasonovaMoscow 115522MoscowRussia Department of Therapy Clinical Laboratory Diagnostics and Medical BiochemistryYaroslavl State Medical UniversityYaroslavl 150000YaroslavlRussia Department of Therapy and Rheumatology North-Western State Medical University named after I.I.MechnikovSt.Petersburg 191015St.PetersburgRussia

BACKGROUND Oral treatment of glucosamine(GA) combined with chondroitin sulfate(CS) was reportedly effective for pain relief and function improvement in osteoarthritis patients with moderate to severe knee pain in clinical trials. While the effectiveness of GA and CS on both clinical and radiological findings has been demonstrated, only a few high-quality trials exist. Therefore, controversy regarding their effectiveness in real-world clinical practice *** To investigate the impact of GA + CS on clinical outcomes of patients with knee and hip osteoarthritis in routine clinical *** A multicenter prospective observational cohort study included 1102 patients of both genders with knee or hip osteoarthritis(Kellgren & Lawrence grades Ⅰ-Ⅲ) in 51 clinical centers in the Russian Federation from November 20, 2017, to march 20,2020, who had started to receive oral capsules of glucosamine hydrochloride 500 mg and CS 400mg according to the approved patient information leaflet starting from 3 capsules daily for 3 wk,followed by a reduced dosage of 2 capsules daily before study inclusion(minimal recommended treatment duration is 3-6 mo). Changes in subscale scores [Pain, Symptoms, Function, and Quality of Life(QOL)] of the Knee Injury and Osteoarthritis Outcome Score(KOOS)/Hip Disability and Osteoarthritis Outcome Score(HOOS) questionnaires during the observational period(up to 54-64wk with a total of 4 visits). Patients’ treatment satisfaction, data on the combined oral use of glucosamine hydrochloride and CS, concomitant use of non-steroidal anti-inflammatory drugs(NSAIDs), and adverse events(AEs) were also *** A total of 1102 patients with knee and hip osteoarthritis were included in the study. The mean patient age was 60.4 years, most patients were women(87.8%), and their average body mass index was 29.49 kg/m2. All subscale scores(Pain, Symptoms, Function, and QOL) of the KOOS and HOOS demonstrated clinically and statistically significant im

关键词： Glucosamine Chondroitin sulfate Knee osteoarthritis Hip osteoarthritis Knee injury and osteoarthritis outcome score Hip disability and osteoarthritis outcome score

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Ultrathin metal Silicate Hydroxide Nanosheets with moderate metal-Oxygen Covalency Enables Efficient Oxygen Evolution

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Energy & Environmental materials 2022年第1期5卷 231-237页

作者： Jiexin Zhu Shikun Li Zechao Zhuang Shan Gao Xufeng Hong Xuelei Pan Ruohan Yu Liang Zhou lyudmila V.moskaleva Liqiang mai State Key Laboratory of Advanced Technology for materials Synthesis and Processing Wuhan University of Technology Institute of Applied and Physical Chemistry and Center for Environmental Research and Sustainable Technology University of Bremen Department of Chemistry University of the Free State Collage of Chemistry & Chemical Engineering Anhui University Foshan Xianhu Laboratory of the Advanced Energy Science and Technology Guangdong Laboratory Xianhu Hydrogen Valleyfoshan guangdong 528200china

Exploring efficient,cost-effective,and durable electrocatalysts for electrochemical oxygen evolution reaction(OER)is pivotal for the large-scale application of water *** advance has demonstrated that the activity of electrocatalysts exhibits a strong dependence on the surface electronic ***,a series of ultrathin metal silicate hydroxide nanosheets(UmSHNs)m_(3)Si_(2)O_(5)(OH)_(4)(m=Fe,Co,and Ni)synthesized without surfactant are introduced as highly active OER *** silicate hydroxide nanosheets show an optimal OER activity with overpotentials of 287 and 358 m V at 1 and 10 m A cm^(-2),*** experimental and theoretical studies,it is found that the OER activity of UmSHNs is dominated by the metal-oxygen covalency(mOC).High OER activity can be achieved by having a moderate mOC as reflected by aσ^(*)-orbital(e_(g))filling near unity and moderate[3d]/[2p]***,the UmSHNs exhibit favorable chemical stability under oxidation *** contribution provides a scientific guidance for further development of active metal silicate hydroxide catalysts.

关键词： electrocatalysis metal silicate hydroxide metal-oxygen covalency oxygen evolution reaction ultrathin nanosheet

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Impact of sarcopenia on mortality in patients undergoing liver retransplantation

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World Journal of Hepatology 2020年第10期12卷 807-815页

作者： Amaninder Dhaliwal Diana Larson molly Hiat lyudmila m muinov William L Harrison Harlan Sayles Tomoki Sempokuya marco A Olivera Fedja A Rochling Timothy m mcCashland Department of Gastroenterology and Hepatology University of South Florida and Moffitt Cancer CenterTampaFL 33612United States Division of Gastroenterology and Hepatology Department of Internal MedicineUniversity of Nebraska Medical CenterOmahaNE 68198United States Department of Internal medicine University of Nebraska Medical CenterOmahaNE 68198United States Department of Radiology University of Nebraska Medical CenterOmahaNE 68198United States Division of Abdominal Imaging Department of RadiologyUniversity of Nebraska Medical CenterOmahaNE 68198United States Department of Biostatistics College of Public HealthUniversity of Nebraska Medical CenterOmahaNE 68198United States

BACKGROUND Sarcopenia,which is a loss of skeletal muscle mass,has been reported to increase post-transplant mortality and morbidity in patients undergoing the first liver ***-sectional imaging modalities typically determine sarcopenia in patients with cirrhosis by measuring core abdominal ***,there is limited evidence for sarcopenia related outcomes in patients undergoing liver re-transplantation(re-OLT).AIm To evaluate the risk of mortality in patients with pre-existing sarcopenia following liver *** This is a retrospective study of all adult patients who had undergone a liver re-OLT at the University of Nebraska medical Center from January 1,2007 to January 1,*** divided patients into sarcopenia and no sarcopenia groups.“TeraRecon AquariusNet 4.***.12.194”software was used to evaluate computed tomography or magnetic resonance imaging of the patients done within one year prior to their re-OLT,to calculate the Psoas muscle area at L3-L4 intervertebral *** defined cutoffs for sarcopenia asmm2 for males andmm2 for *** primary outcome was to compare 90 d,one,and 5-year survival *** also compared complications after re-OLT,length of stay,and readmission within 30 *** analysis was performed with Kaplan-meier survival *** variables were evaluated with Wilcoxon rank-sum *** variables were evaluated with Fisher’s exact *** Fifty-seven patients were included,32 males:25 females,median age 50 *** patients were excluded due to incomplete ***,47%(26)of patients who underwent re-OLT had *** were found to have significantly more sarcopenia than males(73%vs 17%,Pmedian model for end stage liver disease at re-OLT was 28 in both sarcopenia and no sarcopenia *** in the no sarcopenia group had a trend of longer median time between the first and second transplant(36.5 mo vs 16.7 mo).Biological markers,outcome par

关键词： Sarcopenia Liver transplantation mortality Re-transplantation Psoas muscle index

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Urban air pollution,climate and its impact on asthma morbidity

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Asian Pacific Journal of Tropical Biomedicine 2016年第1期6卷 76-79页

作者： lyudmila Vasilievna Veremchuk Vera Innokentievna Yankova Tatyana Isaakovna Vitkina Anna Vladimirovna Nazarenko Kirill Sergeevich Golokhvast Vladivostok Branch of Far Eastern Scientific Center of Physiology and Pathology of Respiration Research Institute of Medical Climatology and Rehabilitation Treatment Scientific Educational Center of Nanotechnology Far Eastern Federal University

Objective:To study the mechanism of formation of air quality and to determine the impact of the studied factors on asthma morbidity in ***:The evaluation of air pollution in Vladivostok was done using long-term(2008-2012) monitoring data(temperature,humidity,atmospheric pressure,wind speed,etc.).The levels of suspended particulate matter,nitrogen and sulfur dioxide,carbon monoxide,ammonia,formaldehyde(mg/m^3) in six stationary observation posts were *** studied the aerosol suspensions of solid particles,which were collected during snowfall from precipitation(snow) and air in 14 districts with different levels of anthropogenic *** snow was analyzed on laser *** impact of air pollution on the distribution of asthma morbidity was evaluated in various age groups by data of federal statistical observation obtained from 8 adults and 7 children municipal clinics in Vladivostok(2008-2012).Results:The content of suspended particulate components of pollution remained more stable,due to the features of atmospheric circulation,rugged terrain and residential *** nano- and micro-sized particles(0-50 μm),which can absorb highly toxic metals,prevail in dust *** respirable fractions of particles,even in small doses,can contribute to the increase in asthma morbidity in the ***:We determined that asthma morbidity depends from general air pollution(in the range of 18.3%).It was detected that the highest age-specific dependence is associated with the content of particulate matter,carbon monoxide and nitrogen dioxide in air.

关键词： Air quality assessment Climatic factors Air pollution Atmospheric microparticles Asthma morbidity

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