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Multi-tissue transcriptomics of a unique monozygotic discordant twin case of severe progressive osseous heteroplasia

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Genes & Diseases 2024年第3期11卷 22-25页

作者： Alberto Gomez-Carballa Maria jose Curras-Tuala Sara Pischedda Miriam Cebey-Lopez jose Gomez-Rial Irene Rivero-Cale jacobo Pardo-seco Xabier Bello Sandra Viz-Lasheras Antonio justicia-Grande julian Montoto-Louzao Alba Camino-Mera Isabel Ferreiros-Vidal Maximo Fraga jose RAntunez Rodolfo Gomez Federico Martinon-Torres Antonio salas Genetics Vaccines and Infections Research Group(GENVIP)Instituto de Investigacion Sanitaria de SantiagoSantiagode CompostelaGalicia 15706Spain Translational Pediatrics and Infectious Diseases Department of PediatricsHospital Clinico Universitario de Santiago de CompostelaServicio Galego de Saude(SERGAS)Galicia 15706Spain Laboratorio de Inmunologia Servicio de Andlisis ClinicosHospital Clinico Universitario de Santiago de CompostelaServicio Galego de Saude(SERGAS)Galicia 15706Spain Unidade de Xenetica Instituto de Ciencias Forenses(INCIFOR)Facultade de MedicinaUniversidade de Santiago de Compostelaand GenPoB Research GroupInstituto de Investigacion SanitariaHospital Clinico Universitario de Santiago de CompostelaServicio Galego de Saude(SERGAS)Galicia 15706Spain Musculoskeletal Pathology Group Instituto de Investigacion Sanitaria de SantiagoServicio Galego de Saude(SERGAS)Santiago de CompostelaGalicia 15706Spain Department of Pathology Hospital Clinico Universitario de Santiago de Compostela(SERGAS)Galicia 15706Spain Unidad Integrada de BiobancosBiomodelos 3D y Modelos Animales IDIS(lnstituto de Investigacion Sanitaria de Santiagode Compostela)Galicia15706Spain Centro de Investigacion Biomedica en Red de Enfermedades Respiratorias(CIBER-ES) MadridSpain

Progressive osseous heteroplasia(POH)is an ultra-rare autosomal dominant disabling disorder characterized by heterotopic ossification(HO).It is caused by heterozygous inactivating mutations in the GNAS(guanine nucleotide-binding protein alpha-stimulating activity polypeptide)***,the molecular mechanisms underlying HO remain poorly *** a treatment for POH is not yet available,the identification of the mechanisms driving POH in affected tissues using gene expression may be of great help to underestand the molecular basis of POH and develop new therapeutic approaches.

关键词： stimulating driving asi

采用数字乳腺摄影后假阳性结果减低:西班牙乳腺癌人群的4种筛查程序分析

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国际医学放射学杂志 2011年第2期 177-178页

作者： M.Sala D.salas F.Belvis M.Sánchez j.Ferrer j.Ibaez 唐光健 Health Services Evaluation and Clinical Epidemiology Department IMIM-Hospital del MarCIBER Epidemiología y Salud Pública(CIBERESP)

目的评价引入数字乳腺摄影后,对西班牙乳腺癌人群4种筛查程序中大样本受检妇女召回率、检出率、假阳性率与有创处理率的影响。材料与方法研究由伦理委员会

关键词：数字乳腺摄影假阳性率乳腺癌乳腺肿瘤筛查西班牙南欧

Diversity and host assemblage of avian haemosporidians in different terrestrial ecoregions of Peru

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Current Zoology 2022年第1期68卷 27-40页

作者： Luz GARCIA-LONGORIA jaime MURIEL Sergio MAGALLANES Zaira Hellen VILLA-GALARCE Leonila RICOPA Wilson Giancarlo INGA-DIAZ Esteban FONG Daniel VECCO Cesar GUERRA-SALDANA Teresa salas-RENGIFO Wendy FLORES-SAAVEDRA Kathya ESPINOZA Carlos MENDOZA Blanca SALDANA Manuel GONZALEZ-BLAZQUEZ Henry GONZALES-PINEDO Charlene LUjAN-VEGA Carlos Alberto Del AGUILA Yessica VILCA-HERRERA Carlos Alberto PINEDA Carmen REATEGUI jorge Manuel CARDENAS-CALLIRGOS joseAlberto IANNACONE jorge Luis MENDOZA Ravinder NMSEHGAL Alfonso MARZAL Departamento de Anatomia Biologia Celular y ZoologiaUniversidad de ExtremaduraBadajoz E-506071Spain Molecular Ecology and Evolution Lab Department of BiologyLund UniversitySolvegatan 37SE-22362 LundSweden Instituto Pirenaico de Ecologıa-IPE(CSIC) Avda.Nuestra Senora de la Victoria 16Jaca 22700Spain DIRESA Direccion Regional de SaludLoreto 16001Peru Departamento Academico de Microbiologia y Parasitologia.Facultad de Ciencias Biologicas Universidad Nacional de la Amazonia PeruanaIquitos 16001Peru Facultad de Ciencias Agropecuarias Universidad Alas PeruanasLima 15823Peru EverGreen Institute-San Rafael Distrito de IndianaLoreto 16200Peru Observatorio de Aves Loreto(LBO) Distrito de San JuanLoreto 16008Peru Centro Urku de Estudios Amazonicos Tarapoto 22200Peru Servicio Nacional de Areas Naturales Protegidas por el Estado 15036Peru Sanidad Animal-Facultad de Zootecnia Universidad Nacional Agraria La MolinaLima 15012Peru Laboratorio de Microbiologia Facultad de Medicina Veterinaria y ZootecniaUniversidad CientUfica del SurLima 15067Peru Laboratorio de Analisis Clinico Moraleslab SAC MoralesSan Martin 22201Peru Asociacion Ecosistemas Andinos(ECOAN) Cuzco 08002Peru Pharmacology and Toxicology Graduate Group University of CaliforniaDavisDA 95616USA Global Health Initiative Wabash CollegeCrawfordsvilleIN 47933USA Facultad de Ciencias Biologicas Universidad Nacional Mayor de San MarcosLima 15081Peru Facultad de Medicina Veterinaria Universidad Nacional Hermilio ValdizanHuanuco10160Peru Asociacion Peruana de Helmintologia e Invertebrados Afines Lima 15054Peru Laboratorio de Ecologia y Biodiversidad Animal Universidad Nacional Federico VillarrealEl AgustinoLima 15007Peru Laboratorio de Invertebrados Universidad Ricardo Palma-Santiago de SurcoLima 15537Peru Department of Biology San Francisco State UniversitySan FranciscoCA 94132USA

Characterizing the diversity and structure of host–parasite communities is crucial to understandingtheir eco-evolutionary *** and related haemosporidian parasites are responsible forfitness loss and mortality in bird species ***,despite exhibiting the greatest ornithologicalbiodiversity,avian haemosporidians from Neotropical regions are quite ***,we analyze the genetic diversity of bird haemosporidian parasites(Plasmodium andHaemoproteus)in 1,336 individuals belonging to 206 bird species to explore for differences in diversityof parasite lineages and bird species across 5 well-differentiated Peruvian *** 70 different haemosporidian lineages infecting 74 bird *** showed that 25 out ofthe 70 haplotypes had not been previously ***,we also identified 81 new host–parasite interactions representing new host records for these haemosporidian *** outcomesrevealed that the effective diversity(as well as the richness,abundance,and Shannon–Weaver index)for both birds and parasite lineages was higher in Amazon basin ***,we also showed that ecoregions with greater diversity of bird species also had highparasite richness,hence suggesting that host community is crucial in explaining parasite *** parasites were found in ecoregions with lower bird diversity,implying that the abundanceand richness of hosts may shape the exploitation strategy followed by haemosporidian *** outcomes reveal that Neotropical region is a major reservoir of unidentified *** studies analyzing host distribution and specificity of these parasites inthe tropics will provide important knowledge about phylogenetic relationships,phylogeography,and patterns of evolution and distribution of haemosporidian parasites.

关键词： Amazonia avian malaria generalist parasite habitat specificity Haemoproteus Plasmodium specialist parasite

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中国农田的温室气体排放

第四纪研究 2003年第5期23卷 493-503页

作者：李长生肖向明 S.Frolking B.Moore Ⅲ W.salas 邱建军张宇庄亚辉王效科戴昭华刘纪远秦小光廖柏寒 R.Sass 新罕布舍大学地球海洋与空间研究所美国DurhamNH 03824 中国农业科学院农业资源和农业区划研究所北京100081 中国气象科学院农业气象研究所北京100081 中国科学院生态环境研究中心北京100085 中国科学院地理科学与资源研究所北京100101 中国科学院地质与地球物理研究所北京100029 湖南农业大学农业环境科学学院长沙410128 莱斯大学生命和进化科学系美国HoustonTexas 77252-1892

中国是一个农业大国 ,拥有约 1 .33百万平方公里的农田。这些田地的种植、翻耕、施肥、灌溉等管理措施不仅长期改变着农田生态系统中的化学元素循环 ,而且给全球气候变化带来影响。农业生态系统对全球变化的影响主要是通过改变 3种温室... 详细信息

中国是一个农业大国 ,拥有约 1 .33百万平方公里的农田。这些田地的种植、翻耕、施肥、灌溉等管理措施不仅长期改变着农田生态系统中的化学元素循环 ,而且给全球气候变化带来影响。农业生态系统对全球变化的影响主要是通过改变 3种温室气体 ,即二氧化碳(CO2 )、甲烷 (CH4)和氧化亚氮 (N2 O)在土壤 -大气界面的交换而实现的。为了分析多种因素(如气候、土壤质地、农作物品种及各种农田经营管理措施等 )对农业土壤释放CO2 ,CH4和N2 O的综合影响 ,一个生物地球化学过程模型 (DNDC)近年发展起来 ,用于预测这一复杂系统的动态。DNDC模型可对农业生态系统中的碳 (C)、氮 (N)循环进行计算机模拟 ,并计算农田温室气体的释放量。通过与一个地理信息系统数据库的连接 ,DNDC完成了对中国农田 1 990年温室气体排放的估算。结果表明中国农业生态系统的CO2 净排放量约 95百万吨C/年、CH4约 9.2百万吨C/年、N2 O约 1 .3百万吨N/年。根据全球增温潜势 (GWP)计算 ,中国农田释放的N2 O对全球增温的影响高于CO2 和CH4。模拟结果还发现中国农业对减缓全球温室效应的最大贡献发生在 1 980～ 2 0 0 0年间 ,在这 2 0年中 ,全国水稻田的灌溉方法由持续淹灌逐渐改为晒田间灌 ,DNDC计算的中国农田CH4的年排放量由 1 980年的 1 2百?

关键词：中国农业农田温室气体生物地球化学 DNDC 地理信息系统数据库

Doping Effect of Poly(vinylidene fluoride)on Carbon Nanofibers Deduced by Thermoelectric Analysis of Their Melt Mixed Films

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Chinese journal of Polymer Science 2024年第11期42卷 1802-1810,I0013页

作者： A.j.Paleo V.M.Serrato j.M.Mánuel O.Toledano E.Muñoz M.Melle-Franco B.Krause P.Põtschke K.Lozano 2C2T-Centre for Textile Science and Technology University of MinhoCampus de Azurém4800-058GuimarãesPortugal Florida Institute of Technology MelbourneFL32901USA The Aerospace Corporation El SegundoCA90245USA Department of Condensed Matter Physics and Institute of Research on Electron Microscopy and Materials(IMEYMAT) Faculty of SciencesUniversity of CádizPuerto Real11510CádizSpain CICECO-Aveiro Institute of Materials Department of ChemistryUniversity of Aveiro3810-193AveiroPortugal UNED-Universidad Nacional de Educación a Distancia Av.de Espartas/nLas Rozas28232MadridSpain Facultad de Física Pontificia Universidad Católica de ChileSantiago7820436Chile Leibniz-Institut für Polymerforschung Dresden e.V.(IPF) Hohe Str.601069DresdenGermany Department of Mechanical Engineering University of Texas Rio Grande ValleyEdinburgTX78539USA

The effect of temperature on the electrical conductivity(σ)and Seebeck coefficient(S)of n-type vapor grown carbon nanofibers(CNFs)and poly(vinylidene fluoride)(PVDF)melt-mixed with 15 wt%of those CNFs is *** 40°C,the CNFs show stable n-type character(S=-4.8μV·K^(-1))with anσof ca.165 S·m^(-1),while the PVDF/CNF composite film shows anσof ca.9 S·m^(-1)and near-zero S(S=-0.5μV·K^(-1)).This experimental reduction in S is studied by the density functional tight binding(DFTB)method revealing a contact electron transfer from the CNFs to the PVDF in the ***,in the temperature range from 40°C to 100°C,theσ(T)of the CNFs and PVDF/CNF film,successfully described by the 3D variable range hopping(VRH)model,is explained as consequence of a thermally activated backscattering *** the contrary,the S(T)from 40°C to 100°C of the PVDF/CNF film,which satisfactorily matches the model proposed for some multi-walled carbon nanotube(MWCNT)doped mats;however,it does not follow the increase in S(T)found for *** these findings are presented with the aim of discerning the role of these n-type vapor grown carbon nanofibers on theσand S of their melt-mixed polymer composites.

关键词： Carbon nanofibers Poly(vinylidene fluoride) Seebeck coefficient P-type doping Density functional based tight binding Variable range hopping

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G6PD缺陷症对恶性疟疾感染风险的影响

实用医学杂志 2014年第21期30卷 3418-3421页

作者：陈江涛林敏刘配芬钟德善谢东德 Santiago-m Monte-Nguba juan Carlos salas Ehapo Urbano Monsuy Eyi 杨立业杨辉詹小芬杨惠钿广东省惠州市中心医院检验中心 516001 南方医科大学附属潮州市中心医院中心实验室广东省潮州市521000 广东省惠州市中医医院 516001 广东省江门市人民医院检验科 529020 赤道几内亚马拉博马拉博地区医院检验科

目的:观察葡萄糖-6-磷酸脱氢酶(G6PD)缺陷症不同表型对恶性疟原虫感染的影响。方法:采用横断面研究的方式,将2012年雨季到马拉博地区医院就诊的2 690名比奥克岛当地居民纳入研究。用显微镜镜检、荧光定量PCR结合熔解曲线法检测疟原虫。... 详细信息

目的:观察葡萄糖-6-磷酸脱氢酶(G6PD)缺陷症不同表型对恶性疟原虫感染的影响。方法:采用横断面研究的方式,将2012年雨季到马拉博地区医院就诊的2 690名比奥克岛当地居民纳入研究。用显微镜镜检、荧光定量PCR结合熔解曲线法检测疟原虫。用荧光斑点法及PCR-DNA测序鉴定G6PD缺陷症。采用Logistic回归进行关联性分析。结果:该人群的G6PD缺陷症的总发生率为9.22%,基因型均为G6PD*A-(c.202 G>A/c.376 A>G)。G6PD缺陷症体现出强烈的疟疾保护作用(P0.05)。结论:G6PD缺陷症的男性半合子表型能够减低恶性疟疾感染的风险,但是其机制尚未明确,有待更深入的研究。

关键词：疟疾,恶性 G6PD缺乏症横断面研究

TITANIUM SAPHIRE LASER TRABECULO- PLASTY IN CATS

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国际眼科杂志 2003年第1期3卷 91-91页

作者： V.Fernadez j.Stoiber P.Lamar E.Hernandez F.Manns N.salas F.Fantes j.M.Parel Byophisics Center Bascom Palmer Eye Institute University of Miami FL USAByophisics Center Bascom Palmer Eye Institute University of Miami FL USAByophisics Center Bascom Palmer Eye Institute University of Miami FL USAByophisics Center Bascom Palmer Eye Institute University of Miami FL USAByophisics Center Bascom Palmer Eye Institute University of Miami FL USAByophisics Center Bascom Palmer Eye Institute University of Miami FL USAByophisics Center Bascom Palmer Eye Institute University of Miami FL USAByophisics Center Bascom Palmer Eye Institute University of Miami FL USA

Purpose: To assess the safety of a novel Titanium Sapphire laser for trabeculoplasty in an animal model. Methods: The left eye of 6 healthy cats was treated over 180 degrees, while the right eye was used as a control. A Ti:A1203 laser (790nm, four to five 200ns pulses, 7 microseconds pulse train, 200um spot, SOLX, Boston, MA) producing energies of 8 to 84mj was used.

关键词：猫动物模型激光小梁成形术安全性 SEM 眼内结构

赤道几内亚比奥科岛G6PD缺乏症分子流行病学研究

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分子诊断与治疗杂志 2014年第5期6卷 296-301页

作者：詹小芬陈江涛谢东德杨辉杨惠钿杨立业陆志为 Santiago-m Monte-Nguba juan Carlos salas Ehapo Urbano Monsuy Eyi 林敏南方医科大学附属潮州市中心医院检验实验中心广东潮州521000 中国第25批援赤道几内亚医疗队广东广州510000 广东省惠州市中心医院检验中心广东惠州516001 中国第26批援赤道几内亚医疗队广东广州510000 潮州市公安局法医鉴定中心广东潮州521000 Malabo Regional Hospital Malabothe Republic of Equatorial Guinea

目的探讨非州西部赤道几内亚比奥科岛(Bioko Island)人群的葡萄糖-6-磷酸脱氢酶(G6PD)缺乏症的发生率及基因型。方法在2012年1月至5月期间,用荧光斑点法对2 187名比奥科岛当地居民进行G6PD缺乏症筛查。采用高分辨熔解曲线(High-resoluti... 详细信息

目的探讨非州西部赤道几内亚比奥科岛(Bioko Island)人群的葡萄糖-6-磷酸脱氢酶(G6PD)缺乏症的发生率及基因型。方法在2012年1月至5月期间,用荧光斑点法对2 187名比奥科岛当地居民进行G6PD缺乏症筛查。采用高分辨熔解曲线(High-resolution melting,HRM)分析G6PD缺乏的标本的c.202 G>A与c.376 A>G。对HRM筛选不出突变的G6PD酶学缺乏的样本,针对非洲的其他突变类型:c.542 A>T(rs5030872)、c.680 G>A(rs137852328)、c.968 T>C(rs76723693)进行PCR-DNA测序。结果赤道几内亚比奥科岛人群的G6PD缺乏症总发生率为8.54%(189/2 187),其中男性84例(9.04%,84/929),女性105例(8.34%,105/1 258),男女检出率比为1.08:1。在189例G6PD缺乏标本中共检出两种基因类型,其中包括G6PD A-变异体(c.376 A>G/c.202 G>A)186例(98.41%,186/189G6PD Betica(c.376 A>G/c.968T>C)3例(1.59%3/189)。结论赤道几内亚比奥科岛是G6PD缺乏症高发区,基因型比较单一。HRM技术可用于非洲地区G6PD缺乏症的临床诊断和流行病学研究。

关键词： G6PD缺乏症比奥科岛高分辨熔解曲线基因型 PCR-DNA测序

SYBR GreenⅠ染料法定量PCR检测疟原虫感染及

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分子诊断与治疗杂志 2013年第4期5卷 227-231页

作者：陈江涛刘配芬钟德善潘雪峰杨辉杨立业陆志为杨惠钿林敏 Santiago-m Monte-Nguba juan Carlos salas Ehapo Urbano Monsuy Eyi 广东省惠州市中心人民医院检验中心广东惠州516001 中国第25批援赤道几内亚医疗队广东广州510000 广东省惠州市中医医院广东惠州516001 南方医科大学附属潮州市中心医院中心实验室广东潮州521000 潮州市公安局法医鉴定中心广东潮州521000 Hospital Regional De Malabo

目的评价一种可以快速定量检测疟原虫及虫种鉴别的荧光定量PCR法。方法将SYBR Green Ⅰ法与TaqMan探针法检测疟原虫进行比对,评价定量的准确性及方法的敏感度。以PCR-DNA测序法为金标准,评价SYBR Green Ⅰ法分型的准确性。结果两个方法... 详细信息

目的评价一种可以快速定量检测疟原虫及虫种鉴别的荧光定量PCR法。方法将SYBR Green Ⅰ法与TaqMan探针法检测疟原虫进行比对,评价定量的准确性及方法的敏感度。以PCR-DNA测序法为金标准,评价SYBR Green Ⅰ法分型的准确性。结果两个方法的定量拷贝检测数无显著性差异(P>0.05)。SYBR Green Ⅰ法检测疟原虫的最低检测下限为1×102copy/mL至5×102copy/mL之间。与PCR-DNA测序法比较,SYBR Green Ⅰ法能准确的对感染的疟原虫虫种做准确的鉴定。结论 SYBR Green I染料法定量可同时进行人体疟原虫的定量检测和虫种鉴别,且成本低廉,操作简便快速,可以在疟疾的高发地区推广使用。

关键词：疟疾荧光定量PCR SYBR Green Ⅰ 虫种鉴别