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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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Liver blood supply after a modified Appleby procedure in classical and aberrant arterial anatomy

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World Journal of Gastrointestinal Surgery 2013年第3期5卷 51-61页

作者： vyacheslav I egorov Roman v Petrov Michail v Lozhkin Olga A Maynovskaya natalia S Starostina natalia R Chernaya ekaterina M Filippova Ostroumov 14~(th) City Hospital Department of Surgical Oncology Sechenov First State Medical University department of General Surgery Russian National Research Medical University department of Abdominal Surgery Herzen Institute of Oncology department of Pathology Herzen Institute of Oncology department of Radiological Herzen Institute of Oncology department of Interventional Radiology Sklifosovsky Emergency Institute department of Pathology VishnevskyInstitute of Surgery

Reported here are two cases of a modified Appleby operation for borderline resectable ductal adenocarcinoma of the pancreatic body, in one of which a R0 distal resection was attended to by excision, not only of the celiac axis, but also of the common and left hepatic arteries in the presence of arterial anatomic variation Michels, type Ⅷb. The possibility and avenues of the maintenance of the blood supply to the left hepatic lobe after surgical aggression of this kind are demonstrated employing computed tomography (CT) and 3-D CT angiography. Furthermore, both cases highlight all important worrisome aspects of pancreatic cancer resectability prediction.

关键词： Cancer Pancreas Management Pancreatectomy Distal pancreatectomy vascular invasion Computed tomography Blood supply

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Intestinal microbiome changes in an infant with right atrial isomerism and recurrent necrotizing enterocolitis:A case report and review of literature

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World Journal of Clinical Cases 2022年第29期10卷 10583-10599页

作者： Aleksandra Kaplina ekaterina Zaikova Artem Ivanov Yulia volkova Tatiana Alkhova vladimir Nikiforov Alexander Latypov Marina Khavkina Tatiana Fedoseeva Tatiana Pervunina Yulia Skorobogatova Svetlana volkova vladimir Ulyantsev Olga Kalinina Stanislav Sitkin natalia Petrova Research Laboratory of Physiology and Diseases of Newborns Almazov National Medical Research CentreSt.Petersburg 197341Russia Research Laboratory of Autoimmune and Autoinflammatory Diseases Almazov National Medical Research CentreSt.Petersburg 197341Russia vladimir Ulyantsev International Laboratory of Computer TechnologiesITMO UniversitySt.Petersburg 197101Russia department of Cardiovascular Surgery for Children Almazov National Medical Research CentreSt.Petersburg 197341Russia department of Neonatal Physiology with an ICU Ward Almazov National Medical Research CentreSt.Petersburg 197341Russia Pediatric Cardiac Intensive Care Unit Almazov National Medical Research CentreSt.Petersburg 197341Russia Neonatal and Preterm Special Care Unit(2nd Stage Care) Almazov National Medical Research CentreSt.Petersburg 197341Russia Institute of Perinatology and Pediatrics Almazov National Medical Research CentreSt.Petersburg 197341Russia express Laboratory of Perinatal Centre Almazov National Medical Research CentreSt.Petersburg 197341Russia Clinical Diagnostic Laboratory Almazov National Medical Research CentreSt.Petersburg 197341Russia epigenetics and Metagenomics Group Institute of Perinatology and PediatricsAlmazov National Medical Research CentreSt.Petersburg 197341Russia department of Internal Diseases Gastroenterology and DieteticsNorth-Western State Medical University named after I.I.MechnikovSt.Petersburg 191015Russia

BACKGROUND Necrotizing enterocolitis(NeC)is a multifactorial disease that predominantly affects premature *** dysbiosis plays a critical role in NeC pathogenesis in premature *** main risk factor for NeC in term infants is mesenteric hypoperfusion associated with ductaldependent congenital heart disease(CHD)that eventually leads to intestinal *** incidence of NeC in neonates with critical CHD is 6.8%-13%.However,the role of the intestinal microbiome in NeC pathogenesis in infants with ductal-dependent CHD remains *** SUMMARY A male term neonate with right atrial isomerism underwent modified Blalock-Taussig shunt placement on the 14^(th)day of life and had persistent mesenteric hypoperfusion after *** patient had episodes of NeC stageⅡA on the 1^(st)and 28^(th)days after cardiac *** microbial composition was analyzed before and after cardiac surgery by sequencing region v4 of the 16S rRNA *** surgery,species belonging to genera veillonella and Clostridia and class Gammaproteobacteria were detected,Bifidobacteriaceae showed a low *** first NeC episode was associated with postoperative hemodynamic instability,intestinal ischemiareperfusion injury during cardiopulmonary bypass,and a high abundance of Clostridium paraputrificum(Clostridium sensu stricto I)(56.1%).Antibacterial therapy after the first NeC episode resulted in increased abundance of Gammaproteobacteria,decreased abundance of Firmicutes,and low alpha *** changes in the microbial composition promoted the growth of Clostridium sensu strictoⅠ(72.0%)before the second NeC *** A high abundance of Clostridium sensu strictoⅠand mesenteric hypoperfusion may have contributed to NeC in the present case.

关键词： Necrotizing enterocolitis Congenital heart disease Ivemark syndrome Heterotaxy Right atrial isomerism Intestinal microbiome Case report

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The Holocene environmental changes revealed from the sediments of the Yarkov sub-basin of Lake Chany,south-western Siberia

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Geoscience Frontiers 2023年第2期14卷 133-153页

作者： S.K.Krivonogov A.N.Zhdanova P.A.Solotchin A.Y.Kazansky v.v.Chegis Z.Liu M.Song S.v.Zhilich N.A.Rudaya X.Cao O.v.Palagushkina L.B.Nazarova L.S.Syrykh Institute of Geology and Mineralogy Russian Academy of SciencesSiberian BranchNovosibirskRussia Novosibirsk State University NovosibirskRussia Korkyt Ata Kyzylorda University KyzylordaKazakhstan Moscow State University MoscowRussia Geological Institute Russian Academy of SciencesMoscowRussia Pushkov Institute of Terrestrial Magnetism Ionosphere and Radio Wave PropagationRussian Academy of SciencesTroitskRussia department of earth Sciences The University of Hong KongHong KongChina State Key Laboratory of Loess and Quaternary Geology Institute of Earth EnvironmentChinese Academy of SciencesXi’anChina Institute of Archaeology and ethnography Russian Academy of SciencesSiberian BranchNovosibirskRussia Tomsk State University TomskRussia Alpine Paleoecology and Human Adaptation Group(ALPHA) State Key Laboratory of Tibetan Plateau Earth SystemEnvironment and Resources(TPESER)Institute of Tibetan Plateau ResearchChinese Academy of SciencesBeijingChina volga Region Federal University KazanRussia Krasnoyarsk Science Center Russian Academy of SciencesSiberian BranchKrasnoyarskRussia Herzen State Pedagogical University St.PetersburgRussia

Lake Chany is the largest endorheic lake in Siberia whose catchment is entirely on the territory of *** geographical location on the climate-sensitive boundary of wet and dry landscapes provides an opportunity to gain more knowledge about environmental changes in the West Siberian interior during the Holocene and about the evolution of the lake *** cores obtained from the Yarkov subbasin of the lake in 2008 have been comprehensively studied by a number of approaches including sedimentology and AMS dating,pollen,diatom and chironomid analyses(with statistical interpretation of the results),mineralogy of authigenic minerals and geochemistry of plant lipids(biomarker analysis.).Synthesis of new results presented here and published data provides a good justification for our hypothesis that Lake Chany is very young,no older than 3.6 ka *** that,between 9 and 3.6 ka BP,the Chany basin was a swampy landscape with a very low sedimentation rate;it could not be identified as a water *** the early lake phase,between 3.6 and 1.5 ka BP,the lake was shallow,1.2–3.5 m in depth,and it rose to its modern size,up to 6.5 m in depth,during the last *** data reveal important changes in the understanding of the history of this large endorheic lake,as before it was envisioned as a large lake with significant changes in water level since ca.14 ka *** addition to hydrology,our proxies provide updates and details of the regional vegetation and climate change since ca.4 ka BP in the WestSiberian forest-steppe and *** evolution of the Chany basin is dependent on hydroclimatic changes in a large region of southern West Siberia,we compare lake-level change and climate-change proxies from the other recently and most comprehensively studied lakes of the region.

关键词： Saline lake Multiproxy study Holocene Climate environment West Siberia

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The effect of Ultra Low Concentrations of Some Biologically Active Substances on the Aerobic Respiration

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CellBio 2016年第1期5卷 1-13页

作者： Sergii v. Girin Iryna v. Savinova Iryna v. Antonenko natalia v. Naumenko Cascade-Medical Reference Laboratory UBI Glevakha Ukraine

For today it is known, that primary and secondary disorders of the aerobic respiration, which are based on mitochondrial deficiency, lead to a wide spectrum of clinical manifestations and diseases. Therefore, the question about effective correction of various types of energy exchange disorders remains topical. Thus, the aim of our work was the study effect of the complex of biologically active substances (BAS) in ultra low concentrations on the activity of key enzymes of aerobic energy metabolism succinate dehydrogenase (eC 1.***.99.1) (SQR) and mitochondrial glycerol-3-phosphate dehydrogenase (eC 1.***.99.5) (GPD2). The human lymphocytes assays were tested in vitro (22 donors). In negative control lymphocytes, cell culture normal saline solution was added. Normal saline solution with NaN3 was added in positive control lymphocytes cell culture. experimental cell culture contained NaN3 and BAS. Our investigations had been revealed increase SQR activity in the experimental cell culture as compared with positive control culture throughout the time of experiment (measurements were carried out at 4, 24, 48, 72 h of incubation). The SQR activity of experimental cell culture and negative control lymphocytes cell culture was equal up to 24 h of experiment. It showed neutralization of NaN3 inhibitory effect (during 24 h) due to BAS influence. Activity of base glycerophosphate shunt ferment GPD2 of experimental lymphocyte cell culture was not different from GPD2 index in the negative control, but was lower than GPD2 activity in the positive control. It also indicated neutralization NaN3 inhibitory effect due to BAS influence. So we had found that extremely low concentrations of selected BAS with their complex impact on human lymphocytes in vitro could effectively neutralize the inhibitory effect of NaN3 on processes of aerobic energy metabolism link.

关键词： energy Metabolism Ultralow Concentrations Succinate dehydrogenase Glycerol-3-Phosphate dehydrogenase

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Production of Camphene by Isomerization Reaction on Sulfated ZrO_2

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Chinese Journal of Chemical engineering 2000年第1期8卷 64-67页

作者： Nora Alejandra Comelli Omar Masini Alfredo Lzaro Carrascull esther natalia Ponzi Marta Isabel Ponzi INTeQUI(CONICeT-UNSL) Facultad de Ingenieriay Ciencias Economico Sociales25 de Mayo 384V.Mercedes (SL)ArgentinaINTEQUI(CONICET-UNSL)Facultad de Ingenieriay Ciencias Economico Sociales25 de Mayo 384V.Mercedes (SL)ArgentinaINTEQUI(CONICET-UNSL)Facultad de Ingenieriay Ciencias Economico Sociales25 de Mayo 384V.Mercedes (SL)ArgentinaINTEQUI(CONICET-UNSL)Facultad de Ingenieriay Ciencias Economico Sociales25 de Mayo 384V.Mercedes (SL)ArgentinaCINDECA(CONICET-UNLP)Calle 47 N°2571900 La PlataArgentina

The kinetics of camphene production in liquid phase from α-pinene was experimentally determined in an isothermal batch reactor. To this end, a sulfated ZrO2 catalyst was used and the reaction studied in the temperature range of 370-403 K. By analyzing the experimental data, second reaction order for α-pinene was found. A kinetic model is presented which includes term for the catalyst load used. The specific rate constant at 393K was 2.19×10^-3 mol·L^-1·min^-1, the activation energy being 93kJ·mo1·^-1. Both values are within the range of literature results.

关键词：生产工艺莰烯异构化反应硫酸盐催化剂 ZrO2 反应动力学 α-蒎烯

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evolutionary history of mountain voles of the subgenus Aschizomys (Cricetidae, Rodentia), inferred from mitochondrial and nuclear markers

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Integrative Zoology 2020年第3期15卷 187-201页

作者： Semen Yu.BODROv vera K.vASILJevA Innokentiy M.OKHLOPKOv Nikolai v.MAMAYev evgeniy S.ZAKHAROv Alexey Yu OLeINIKOv evgeniy A.GeNeLT-YANOvSKIY natalia I.ABRAMSON Zoological Institute Russian Academy of SciencesSaint PetersburgRussia Institute for Biological Problems of Cryolithozone YakutskSakha Republic(Yakutia)Russia Institute of Water and ecological Problems KhabarovskRussia Saint-Petersburg Scientific Center RAS Saint PetersburgRussia

In this study,we present an assessment of the evolutionary history and phylogenetic relationships of Asian mountain voles of the subgenus Aschizomys,genus Alticola,based on extensive sampling and phylogenetic analyses of data from mitochondrial and nuclear *** species of this subgenus are widespread in the mountain areas of north-eastern ***,both their distribution and taxonomic borders remained questionable for more than 100 *** study showed discordance in the phylogenetic patterns between nuclear and mtDNA *** found that mtDNA in *** is paraphyletic relative to ***,but nuclear markers demonstrated reciprocal *** to species distribution modeling,ranges of *** and *** experienced a secondary contact during the Last Glacial Maximum(approximately 22 kyr BP),and thus a hybridization event seems plausible during that *** tree analyses recovered a sister group relationship between the two species of the Aschizomys subgenus,with an estimated divergence date of around 0.8 *** results provided good support for currently recognized subspecies within both *** and *** based on mitochondrial and nuclear datasets.A new,yet undescribed form,supposedly of a subspecific status within ***,was found in the Bureinskiy Range in the Khabarovsk *** finding expands the current species distribution range further to the southeast.

关键词： Asian mountain voles Aschizomys phylogeny taxonomy species tree species distribution modeling

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Hepatotoxicity Induced by High Dose of Methylprednisolone Therapy in a Patient with Multiple Sclerosis: A Case Report and Brief Review of Literature

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Open Journal of Gastroenterology 2016年第5期6卷 146-150页

作者： Mohamed A. H. Kadle natalia v. Mazurchik Center for the Study of the Liver Peoples Friendship University of Russia Moscow Russia

Toxic hepatitis due to drugs is an important and frequent drug adverse reaction in clinical practice. Here, we report a case of high dose methylprednisolone-induced acute hepatitis in a 51-year-old woman that suffers from multiple sclerosis while steroids are usually safe drugs with regards to liver injury and even they are the treatment choice of autoimmune hepatitis, but the literatures about corticosteroids showed are not entirely safe to liver injury and they have occasionally linked to hepatotoxicity. Although recent reports have demonstrated that prednisolone may cause hepatitis. This case report includes a brief review of the relevant literature on corticosteroids-induced hepatitis that is presented.

关键词： Toxic Hepatitis Methylprednisolone Multiple Sclerosis

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Influence of beam current on microstructure of electron beam melted Ti-6Al-4v alloy

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Progress in Natural Science:Materials International 2019年第4期29卷 440-446页

作者： Roman Laptev natalia Pushilina egor Kashkarov Maxim Syrtanov ekaterina Stepanova Andrey Koptyug Andrey Lider National Research Tomsk Polytechnic University Mid Sweden University

The defect microstructure of the samples manufactured from Ti-6A1-4v powder was studied using electron beam melting(eBM) in the beam current range of 17-13 *** hybrid digital complex combined positron lifetime spectroscopy and coincidence Doppler broadening spectroscopy was used to characterize the defect structure of the *** microstructure and defects were also analyzed by transmission electron *** has been established that the main type of the defects in the eBM manufactured samples is *** to the conducted measurements and calculations,the dislocation density in the eBM manufactured samples exceeds by two orders the similar value for the cast Ti-6Al-4 *** of Ti-Ti-Al nanoscale clusters has been found in the eBM manufactured samples.

关键词： Titanium alloy Additive technology electron beam melting Positron spectroscopy defects Transmission electron microscopy

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Influence of poloxamer 407 on fractional and subfractional composition of serum lipoproteins of mice

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Health 2010年第7期2卷 722-730页

作者： Tatyana A. Korolenko Fedor v. Tuzikov Thomas P. Johnston natalia A. Tuzikova elena e. Filjushina viktoriya M. Loginova natalia G. Savchenko 不详

Using a novel small-angle X-ray scattering (SAXS) method for determination of fractional and subfractional composition of lipoproteins (LPs), a significant elevation of total cholesterol-lipop- roteins (C-LP) and, especially, total triglyceride- lipoproteins (TG-LP), was shown in this work. Among the LP fractions, poloxamer 407 was shown to significantly increase proatherogenic total C-LDL, TG-LDL and, especially, their precursors C-vLDL and TG-vLDL, while only exhibiting a moderate increase in the antiatherogenic C-HDL and TG-HDL fractions. With regard to the vLDL subfractions, significant elevations were observed in both subfractions studied;namely, C-vLDL1-2 and C-vLDL3-5. Similar chang- es were noted in the TG-vLDL1-2 and TG- vLDL3-5 subfractions. The C-IDL and TG-IDL subfractions were increased significantly (?20- to 30- fold), while the C-LDL1-3 subfraction was moderately (?3- to 5-fold) increased at 48 hrs and at day 4. In the moderately elevated (?2- to 4-fold) anti-atherogenic HDL fraction, the C-HDL2 subfraction was increased more significantly (?4- fold) compared to the C-HDL3 subfraction;how- ever, both C-HDL subfractions returned to base- line by day 4. The elevation in the TG-HDL2 subfraction was observed only at 24 hrs. Mouse models of hyperlipidemia and atherosclerosis are useful to evaluate the role of “individual” LPs, as well as their fractions and subfractions, in hyperlipidemia and the genesis of atherosclerosis.

关键词： Poloxamer P-407 Dyslipidemia Serum Lipoprotein Fractions and Subfractions

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