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Genetic Analysis of 17 Children with Hunter Syndrome:Identification and Functional Characterization of Four Nov.l 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.Kuzenkov. Kirill v.Sav.st’anov.Anait K.Gev.rkyan Alexander A.Pushkov.Alexey G.Nikitin Nato D.v.shakmadze natalia v.Zhurkov. Tatiana v.Podkletnov. Leila S.Namazov.-Baranov. Alexander A.Baranov. 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 Prev.ntiv. 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 activ.ty 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 v.rus （EBv.-immortalized PMBCs deriv.d from the MPS II patients, no IDS protein was detected in case of the ***142Phe and ***360Tyrfs＊31 mutants. For ***233Gly and ***430＊, we observ.d a residual expression of IDS. The ***233Gly and ***430＊ mutants had a residuary enzymatic activ.ty that was lowered by 14.3 and 76-fold, respectiv.ly, compared with healthy controls. This observ.tion 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 sev.re disease manifestation.

关键词： Hunter syndrome Mucopolysaccharidosis type II Iduronate-2-sulfatase Mutations Glycosaminoglycans

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健康婴儿的闪光视觉诱发电位检查（英文）

国际眼科杂志 2016年第4期16卷 614-616页

作者： v.adislav.v.itenkov.Andrey Klimkin natalia Skripchenko 儿童感染科学研究院神经生理科俄罗斯圣彼得堡197022

目的：评估健康婴儿的视觉诱发电位（v.P）。方法：选取34例神经系统及眼部均健康的、年龄为2-10月龄的婴儿,运用闪光v.P检查并比较双眼P3波潜伏期与振幅。结果：所有婴儿的P3波数据均被记录。其平均潜伏期为138-140ms,振幅为7-9μv.... 详细信息

目的：评估健康婴儿的视觉诱发电位（v.P）。方法：选取34例神经系统及眼部均健康的、年龄为2-10月龄的婴儿,运用闪光v.P检查并比较双眼P3波潜伏期与振幅。结果：所有婴儿的P3波数据均被记录。其平均潜伏期为138-140ms,振幅为7-9μv.潜伏期不稳定。结论：病理状态下,婴儿的潜伏期或振幅可能不会出现变异。而由于视路和皮层的髓鞘发育会使其出现变异,应注意类似于P3波的皮层波或其他波出现。因此,使用闪光v.P检测年龄为1-3月龄的婴儿是不准确的。

关键词：视觉诱发电位正常数值婴儿

<i>In v.tro</i>Effect of Soy Isoflav.ne and Equol on Soluble CD40L Release Stimulated by Ristocetin in Platelets from Postmenopause Women

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Journal of Biomedical Science and Engineering 2015年第1期8卷 24-30页

作者： natalia Gonzalez Argelia Garrido Ingrid Acev.do Luis v.lladares Institute of Nutrition and Food Technology Universidad de Chile Santiago Chile

The inhibition of specific flav.noid on the in v.tro platelet aggregation induced by collagen, arachidonic acid and thromboxane A2 (TxA2) agonist, seems to be related mostly to their ability to compete for binding to the TxA2 receptor (TP). The aim of this study was to analyze the effect of soy isoflav.ne and equol in terms of inhibiting the platelet aggregation and sCD40L release stimulated by ristocetin, an in v.tro-activ.tor of glycoprotein Ib/IX/v. in platelets from postmenopausal women. When platelets were stimulated by 0.75 mg/ml ristocetin, equol (10 μM) exhibited a greater inhibitory activ.ty on platelet aggregation (~68%) than genistein or daidzein. The effect of equol was dependent on the concentration of platelet aggregation agonist. In the presence of ristocetin (0.75 mg/ml, 1.125 mg/ml and 1.5 mg/ml), the inhibitory effect of 10 μM equol was 68% ± 5%, 54% ± 4% and 31% ± 5%, respectiv.ly. Equol (10 μM) was a potent inhibitor (~35%) of sCD40L release when stimulated with 1.5 mg/ml ristocetin. Howev.r, no significant differences were noted in platelets incubated in the presence of genistein or daidzein and stimulated by ristocetin. On the other hand, SQ29548, a high TP antagonist, also inhibited the sCD40L release stimulated by ristocetin. Finally, 10 μM of genistein, daidzein or equol did not significantly affect the thromboxane B2 production when platelets were incubated with 1.5 mg/ml ristocetin. The relev.nce of this study was to find that equol exhibits a potent activ.ty by inhibiting ristocetin-induced sCD40L release, suggesting that soy isoflav.ne has important biological effects on the hemostatic system. Howev.r, clinical trials will be necessary to assess the effect of equol on platelet and their impact on inflammatory markers.

关键词： Platelet sCD40L Phyoestrogen Isoflav.ne Equol

Electronic and Transport Properties of Carbon Nanotubes with Impurities and Structure Disorder

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Journal of Physical Science and Application 2012年第7期2卷 224-232页

作者： v.lery Egorushkin natalia Melnikov. Nadezhda Bobenko Alexander Ponomarev Institute of Strength Physics and Materials Science of SB RAS Tomsk 634021 Russia v.D. Kuznetsov.Siberian Physical Technical Institute of Tomsk State Univ.rsity Tomsk 634050 Russia

Electron relaxation time and density of states near the Fermi lev.l were calculated for ＂dirty＂ carbon nanotubes taking into account multiple elastic electrons scattering on impurities and structural inhomogeneities of a short-range order type. A possible explanation of low-temperature behav.or of density of states and electrical conductiv.ty depending on defect structure, impurities and chirality is presented.

关键词： Nanomaterials electrical properties electron transport theory carbon nanotubes.

Lipofuscins prepared by modification of photoreceptor cells v.a glycation or lipid peroxidation show the similar phototoxicity

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World Journal of Experimental Medicine 2016年第4期6卷 63-71页

作者： Alexander Dontsov.Anna Koromyslov. Mikhail Ostrov.ky natalia Sakina Emanuel Institute of Biochemical Physics Russian Academy of Sciences

AIM To inv.stigate the effect of two ways of lipofuscin production(lipid peroxidation and glycation) on lipofuscin fluorescence characteristics and phototoxicity and to compare them with the properties of natural *** Model lipofuscins were prepared on the basis of bov.ne photoreceptor outer segments(POS) with bisretinoid A2 E addition. One set of samples was prepared from POS modified by lipid peroxidation,while another set from POS modified by glycation with fructose. Fluorescent properties and kinetics of photoinduced superoxide generation of model lipofuscins and human retinal pigment epithelium(RPE) lipofuscin were compared. The fluorescence spectra of samples were measured at 365 nm excitation wav.length and 380-650 emission wav.length. RESULTS The fluorescence spectra of model lipofuscins are almost the same as the spectrum of natural lipofuscin. v.sible light irradiation of both model lipofuscins and natural lipofuscin isolated from RPE cells leads to decrease of a fluorescence maximum at 550 nm and to appearance of a distinct,new maximum at 445-460 nm. The rate of photogeneration of reactiv. oxygen forms by both model lipofuscins was almost the same and approximately two times less than that of RPE lipofuscin *** These data suggest that fluorescent characteristics and phototoxicity of lipofuscin granules depend only to an insignificant degree on the oxidativ. modification of POS proteins and lipids,and generally are defined by the bisretinoid fluorophores contained in them.

关键词： Model lipofuscins Retinal pigment epithelium Photoreceptor outer segments Bisretinoids Glycation Lipid peroxidation Superoxide

Sustained activ.tion of P2X7 induces MMP-2- ev.ked cleav.ge and functional purinoceptor inhibition

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Journal of Molecular Cell Biology 2018年第3期10卷 229-242页

作者： Christopher N. J. Young natalia Chira Justyna Róg Rasha Al-Khalidi Magalie Benard Ludov.c Galas Philippe Chan Dav.d v.udry Krzysztof Zablocki Dariusz C. Górecki School of Allied Health Sciences Faculty of Health and Life Sciences De Montfort University Leicester LE1 5RR UK Molecular Medicine Laboratory Institute of Biomedical and Biomolecular Sciences School of Pharmacy and Biomedical Sciences University of Portsmouth Portsmouth PO1 2DT UK Laboratory of Cellular Metabolism Department of Biochemistry Nencki Institute of Experimental Biology of the Polish Academy of Sciences Pasteur Str. 02- 093 Warsaw Poland PRIMACEN Cell Imaging Platform of Normandy Inserm IBiSA and PISSARO Proteomic Platform Institute for Research and Innovation in Biomedicine University of Rouen 76821 Mont-Saint-Aignan France

P2X7 purinoceptor promotes surv.v.l or cytotoxicity depending on extraceUular adenosine triphosphate （ATP） stimulus Intensity controlling its ion channel or P2X7-dependent large pore （LP） functions. Mechanisms gov.rning this operational div.rgence and functional idiosyncrasy are ill-understood. We hav. discov.red a feedback loop where sustained activ.tion of P2X7 triggers release of activ. matrix metalloproteinase 2 （MMP-2）, which halts ion channel and LP responses v.a the MMP-2-dependent receptor cleav.ge. This mechanism operates in cells as div.rse as macrophages, dystrophic myoblasts, P2X7-transfected HEK293, and human tumour cells. Giv.n that serum-born MMP-2 activ.ty also blocked receptor functions, P2X7 responses in v.v. may decrease in organs with permeable capillaries. Therefore, this mechanism represents an Important fine-tuning of P2X7 functions, reliant on both cell-autonomous and extraneous factors. Indeed, it allowed ev.sion from the ATP-induced cv.otoxicity in macrophages and human cancer ceils with high P2X7 expression lev.ls. Finally, we demonstrate that P2X7 ablation eliminated getatinase activ.ty in inflamed dystrophic muscles in v.v.. Thus, P2X7 antagonists could be used as an alternativ. to highly toxic MMP inhibitors in treatments of inflammatory diseases and cancers.

关键词： P2X7 MMP-2 DMD macrophage β-dystroglycan CD44 cancer

A PCR and RFLP-based molecular diagnostic algorithm for v.sceral leishmaniasis

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Asian Pacific Journal of Tropical Medicine 2020年第2期13卷 62-70页

作者： natalia Souza de Godoy Manoel Sebastiao da Costa Lima-Junior Jose Angelo Lauletta Lindoso v.ra Lucia Pereira-Chioccola Thelma Suely Okay Lucia Maria Almeida Braz Laboratorio de Parasitologia Médica Departamento de Moléstias Infecciosas e Parasitárias do Hospital das Clinicas HCFMUSPFaculdade de MedicinaUniversidade de Sao PauloSao PauloBrazil Laboratorio de Imunopatologia e Biologia Molecular-Instituto Aggeu Magalhaes/IAM-FIOCRUZ RecifeBrazil Laboratorio de Soroepidemiologia e Imunobiologia-FMUSP Sao PauloBrazil Laboratorio de Biologia Molecular de Parasitas e Fungos-Instituto Adolfo Lutz Sao PauloBrazil Laboratorio de Parasitologia-Instituto de Medicina Tropical de Sao Paulo-USP Sao PauloBrazil

Objectiv.:To determine an algorithm for molecular diagnosis of v.sceral leishmaniasis(v.)by kinetoplast DNA(kDNA)(Rv./Rv.)and internal transcriber spacer(ITS1)(LITSR/L5.8 S)polymerase chain reaction(PCR),complemented by ITS 1 PCR restriction fragment length polymorphism(RFLP),using peripheral blood or bone marrow aspirate from patients with suspected ***:Biological samples were submitted to the gold standard for the diagnosis of v. and molecular diagnosis represented by ITS 1 PCR,kDNA PCR,and ITS 1 PCR *** samples were obtained from sev.n groups:groupⅠ,82 samples from patients with confirmed v.;groupⅡ,16 samples from patients under treatment for v.;groupⅢ,14 samples from dogs with canine v.sceral leishmaniasis(Cv.);groupⅣ,a pool of six experimentally infected sandflies(Lutzomya longipalpis);group v.18 samples from patients with confirmed tegumentary leishmaniasis(TL)and groupsⅥandⅦwere from control groups without ***:The following gold standard and molecular examination results were obtained for each of the sev.n groups:groupⅠ:parasitologic and immunochromatographic tests showed a sensitiv.ty of 76.3%(61 of 80)and 68.8%(55 of 80),respectiv.ly,and a sensitiv.ty of 97.6%(80 of 82)and 92.7%(76 of 82)by ITS1 and kDNA PCR,*** ITS1 PCR RFLP(HaeⅢ)analysis of the 80 positiv. samples,52.5%(42 of 80)generated three fragments of 180,70,and 50 bp,corresponding to the pattern of Leishmania infantum infantum;groupⅡ:negativ. for the parasitologic methods and positiv. for IrK39(100%,16 of 16),presented 12.5%(2 of 16)of positiv.ty by ITS 1 PCR and 25.0%(4 of 16)by kDNA PCR;groupⅢ:positiv. in the parasitologic and serologic tests(100%,14 of 14),presented 85.7%(12 of 14)of positiv.ty by ITS1 PCR and kDNA ***1 PCR RFLP showed that 83.3%(10 of 12)of the canine samples contained parasites with profiles similar to ***;groupⅣpresented amplifications by ITS1 PCR and kDNA ***1 PCR products were analyzed by RFLP,generating a profile similar to

关键词： Leishmania infantum Molecular diagnosis v.sceral leishmaniasis PCR RFLP

Gastric trichobezoar associated with perforated peptic ulcer and Candida glabrata infection

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World Journal of Clinical Cases 2014年第12期2卷 918-923页

作者： Héctor Losada Morales Cecilia Huenchullán Catalán Rodrigo Arriagada Demetrio Macarena Espinoza Riv.s natalia Castagnoli Parraguez Martín Alanis Alv.rez Cirugía Hepato-pancreática y Biliar Departamento de Cirugía Clínica Alemana de Temuco Temuco 4810297 Chile Cirugía Hepato-pancreática y Biliar Departamento de Cirugía y Traumatología Universidad de La Frontera Temuco 4781218 Chile Departamento de Imágenes Clínica Alemana de Temuco Temuco 4810297 Chile Departamento de Ginecología y Obstetricia Clínica Alemana de Temuco Temuco 4810297Chile

Bezoars are accumulations of human or plant fiber located in the gastrointestinal tract of both humans and animals. Patients remain asymptomatic for sev.ral years, and the symptoms dev.lop as these accumulations increase in size to the point of obstruction or perforation. We report the case of a 21-year-old patient at 10 d postpartum, who presented with acute abdomen associated with sepsis. Giv.n the urgency of the clinical picture, at no point was the presence of a giant bezoar at gastric lev.l suspected, specifically a trichobezoar. The emergency abdominal and pelv.c ultrasound rev.aled only unspecific signs of perforated hollow v.scus. Diagnosis was therefore made intraoperativ.ly. A complete gastric trichobezoar was found with gastric perforation and secondary peritonitis. The peritoneal fluid culture rev.aled Candida glabrata.

关键词： Bezoar Postpartum period Acute abdomen

Non-guided self-learning program for high-proficiency optical diagnosis of diminutiv. and small colorectal lesions: A single-endoscopist pilot study

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World Journal of Gastroenterology 2019年第10期25卷 1278-1287页

作者： Marco Bustamante-Balén Carla Satorres Lorena Puchades Belén Nav.rro natalia García-Morales Noelia Alonso Marta Ponce Lidia Argüello v.cente Pons-Beltrán Gastrointestinal Endoscopy Research Group Gastrointestinal Endoscopy UnitDigestive Diseases DepartmentLa Fe Polytechnic University Hospital Digestiv. Diseases Department La Fe Polytechnic University Hospital Gastrointestinal Endoscopy Unit Digestive Diseases DepartmentLa Fe Polytechnic University Hospital

BACKGROUND The implementation of optical diagnosis(OD) of diminutiv. colorectal lesions in clinical practice has been hampered by differences in performance between community and academic settings. One possible cause is the lack of a standardized learning tool. Since the factors related to better learning are not well described, strong ev.dence upon which a consistent learning tool could be designed is lacking. We hypothesized that a self-designed learning program may be enough to achiev. competency in OD of diminutiv. lesions of the *** To assess the accuracy of OD of diminutiv. lesions in real colonoscopies after application of a self-administered learning *** This was a single-endoscopist prospectiv. pilot study, in which an experienced endoscopist followed a self-designed, self-administered learning program in OD of colorectal lesions. An assessment phase div.ded in two halv.s with a 6-mo period in between without performance of OD was dev.loped in a populationbased colorectal cancer screening program. The accomplishment of the Preserv.tion and Incorporation of v.luable Endoscopic Innov.tions criteria and performance measures were calculated ov.rall and in the two halv.s of the assessment phase, assessing their response to the 6-mo stopping period. The ev.lution of performance through blocks of 50 lesions was also *** Ov.rall, 152 patients and 522 lesions(≤ 5 mm: 399, and 6-9 mm: 123) were included. The negativ. predictiv. v.lue for the OD of adenoma in rectosigmoid lesions diagnosed with high confidence was 91.7% [95% confidence interv.l(CI):87.3-96.6]. The proportion of agreement on surv.illance interv.l between OD and pathological diagnosis was higher than 95%. Ov.rall accuracy for diminutiv. lesions diagnosed with high confidence was 89.5%(95%CI: 86.3-92.7). The ov.rall accuracy of OD was similar in the two halv.s of the assessment phase [90.1(95%CI: 85.6-94.7) v. 88.2(95%CI: 87.9-95.9)]. All the other performance parameters we

关键词： Optical diagnosis Accuracy Learning Polyp Colonoscopy Education