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Cryptic NUP214-ABL1 fusion with complex karyotype, episomes and intra-tumor genetic heterogeneity in a T-cell lymphoblastic lymphoma

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Journal of Cancer metastasis and Treatment 2018年第1期4卷 597-605页

作者： moneeb A.K Othman Beate Grygalewicz Agnieszka Kołkowska-Lesniak Joana B.melo isabel m.Carreira Thomas Liehr Jena University Hospital Friedrich Schiller UniversityInstitute of Human GeneticsJena D-07740Germany Cytogenetic Laboratory Maria Sklodowska-Curie Memorial Cancer Centre and InstituteWarsaw 02-781Poland Department of Lymphatic Diseases Institute of Hematology and TransfusionWarsaw 02-776Poland Laboratory of Cytogenetics and Genomics Faculty of MedicineUniversity of CoimbraCoimbra 3000-354Portugal Centro de Investigac̃ao em meio Ambiente Genetica e Oncobiologia(CIMAGO)Coimbra 3001-301Portugal

T-lymphoblastic lymphoma(T-LBL)is a rare and aggressive form of non-Hodgkin’s lymphoma and little is known about their molecular ***,complex karyotypes were already related to this group of malignancy and associated with poor ***,we describe a 17-year-old female being diagnosed with T-LBL and a normal karyotype after standard G-banding with trypsin-Giemsa(GTG)-***,further analyses including high-resolution molecular approaches,array-comparative genomic hybridization(aCGH),multiplex ligation-dependent probe amplification,fluorescence in situ hybridization and multicolor chromosome banding revealed a cryptic complex karyotype,NUP214-ABL1 gene fusion,episomes and intra-tumor genetic *** addition,homozygous loss of CDKN2A,as well as amplification of oncogene TLX1(HOX11)were ***,NUP214-ABL1 fusion gene replicated autonomously in this case as ***,highly amplification of NUP214-ABL1 fusion gene defines possibly a new subgroup of T-LBL patients which accordingly could benefit from treatment with tyrosine kinase *** episomes are missed in standard karyotyping aCGH should be performed routinely in T-LBL to possibly detect more of such cases.

关键词： T-cell lymphoblastic lymphoma NUP214-ABL1 fusion complex karyotype episomes intra-tumor genetic heterogeneity molecular cytogenetics array comparative genomic hybridization

Tailoring thermal conductivity by engineering com- positional gradients in Sil-xGex superlattices

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Nano Research 2015年第9期8卷 2833-2841页

作者： Pablo Ferrando-Villalba1 Aitor F. Lopeandia Francesc Xavier Alvarez Biplab Paul Carla deTomas maria isabel Alonso miquel Garriga Alejandro R. Goni Jose Santiso Gemma Garcia Javier Rodriguez-Viejo Grup de Nanomaterials i microsistemes Departament de Fisica Universitat Autbnoma de Barcelona 08193 Bellaterra Spain Grup de Fisica Estadistica Departament de Fisica Universitat Aut6noma de Barcelona 08193 Bellaterra Spain Institut de Ciencia de materials de Barcelona (ICmAB-CSIC) Campus UAB 08193 Bellaterra Spain ICREA Passeig Lluis Companys 23 08010 Barcelona Spain Institut Catala de Nanociencia i Nanotecnologia ICN2-CSIC Campus UAB 08193 Bellaterra Spain

The transport properties of artificially engineered superlattices （SLs） can be tailored by incorporating a high density of interfaces in them. Specifically, SiGe SLs with low thermal conductivity values have great potential for thermoelectric generation and nano-cooling of Si-based devices. Here, we present a novel approach for customizing thermal transport across nanostructures by fabricating Si/Sil-xGex SLs with well-defined compositional gradients across the SiGe layer from x = 0 to 0.60. We demonstrate that the spatial inhomogeneity of the structure has a remarkable effect on the heat-flow propagation, reducing the thermal conductivity to -2.2 W.m-1.K-1, which is significantly less than the values achieved previously with non-optimized long-period SLs. This approach offers further possibilities for future applications in thermoelectricity.

关键词： SiGe supeflattices,thermal conductivity,composition gradients,heat transport

Review Article: ISTR, a Retrotransposons-Based marker to Assess Plant Genome Variability with Special Emphasis in the Genera Zeaand Agave

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American Journal of Plant Sciences 2012年第12期3卷 1820-1826页

作者： martha isabel Torres-morán Norma Almaraz-Abarca martha Escoto-Delgadillo Centro Interdisciplinario de Investigación para el Desarrollo Integral Regional Instituto Politécnico Nacional Unidad Durango Durango México Centro Universitario de Ciencias Biológicas y Agropecuarias Universidad de Guadalajara Guadalajara México

A review is presented for give information and highlights the advantage of ISTR as molecular marker which with the genome changes after manipulation or breeding intervention can be detected.

关键词： Transposable Elements Zea mays Agave tequilana Agave durangensis molecular markers

Determination of 17α-methyltestosterone in Freshwater Samples of Tilapia Farming by High Performance Liquid Chromatography

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American Journal of Analytical Chemistry 2013年第4期4卷 207-211页

作者： isabel R. Barbosa Sara Lopes Rhaul Oliveira Inês Domingues Amadeu m. V. m. Soares António J. A. Nogueira Centre for Pharmaceutical Studies Faculty of Pharmacy University of Coimbra Coimbra Portugal Department of Biology & CESAm University of Aveiro Aveiro Portugal Faculty of Pharmacy University of Coimbra Coimbra Portugal

17α-methyltestosterone is used to induce the sex reversal of Tilapia sp. to obtain cultures mono-sex to an economically viable. This practice may lead to environmental contamination and problems in human health. Therefore methods need to be developed to detect residues of 17α-methyltestosterone in aqueous matrices. A simple high-performance liquid chromatographic method using ultraviolet detection (245 nm) and testosterone as internal standard has been developed for the monitoring 17α-methyltestosterone in freshwater samples of tilapia aquaculture. The method described involves limited sample preparation as it includes a filtration followed by a single solid-phase extraction step using C18 cartridge. Validation data indicated that the HPLC-UV method for 17α-methyltestosterone determination in the concentration range of 50 - 2000 μg/L provided good linearity, sensitivity, accuracy and precision. method performance was efficiently applied to monitoring the freshwater samples of fish ponds and the surrounding aquatic channels.

关键词： 17α-methyltestosterone High Performance Liquid Chromatography Environment Tilapia Farming

Renal function and choroidal thickness using swept-source optical coherence tomography in diabetic patients

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International Journal of Ophthalmology(English edition) 2019年第6期12卷 985-989页

作者： Antonio manuel Garrido-Hermosilla mariola méndez-muros Estanislao Gutiérrez-Sánchez Cristóbal morales-Portillo maría Jesús Díaz-GrANDa Eduardo Esteban-González isabel Relimpio-López maría Asunción martínez-Brocca Enrique Rodríguez-de-la-Rúa-Franch Department of Ophthalmology Virgen Macarena University HospitalSeville 41009Spain OftaRed Institute of Health Carlos IIIMadridSpain Department of Endocrinology and Nutrition Virgen Macarena University HospitalSeville 41009Spain

AIm: To assess the relationship between choroidal thickness and renal function in diabetic patients. mETHODS: Cross-sectional retrospective clinical study of 42 eyes of 21 ocular treatment-na?ve diabetic patients. Demographic data included: age, sex, type and course of diabetes. Ocular data included: severity of diabetic retinopathy;retinal thickness at the central macular region, as well as choroidal thickness at the central and paracentral quadrants, using automatically generated maps by swept-source optical coherence tomography;presence of cystic macular edema;and ocular axial length(AXL). Lab-test parameters included: glycated hemoglobin(HbA1c), albuminuria, albumin/creatinine ratio in urine, and glomerular filtration rate. RESULTS: A significant negative correlation was mainly observed between several choroidal thicknesses, age(Pminuria(Pment-na?ve diabetic patients.

关键词： choroidal thickness renal function swept-source optical coherence tomography spectral-domain optical coherence tomography diabetes mellitus

Electric-Jet Assisted Layer-by-Layer Deposition of Gold Nanoparticles to Prepare Conducting Tracks

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Natural Science 2009年第2期1卷 142-150页

作者： S. R. Samarasinghe isabel Pastoriza-Santos m. J. Edirisinghe m. J. Reece Luis Liz-marzán m. R. Nangrejo Z. Ahmad 不详

A suspension of 15nm diameter gold nanoparti-cles has been deposited along a line on a silicon substrate with the assistance of a jet generated in an electric field. In order to control the evaporation of the solvent used to suspend the gold nanoparticles, a heating device was used to change the substrate temperature. Layer-by- layer deposition enabled the direct writing of gold tracks having an electrical resistivity of 1.8 × 10-7 Ωm, only about an order of magnitude above the electrical resistivity of bulk gold.

关键词： Gold Electrohydrodynamic Jet Direct Write Track Electrical Conductivity

低渗核黄素在圆锥角膜患者角膜交联术中的应用（英文）

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国际眼科杂志 2020年第2期20卷 211-216页

作者： Ana Sofia Lopes Diana Silva Susana Henriques Peter Pego Cristina Vendrell isabel Prieto Hospital Professor Doutor Fernando Fonseca EPE Amadora-Sintra眼科

目的:比较圆锥角膜患者角膜交联(CXL)、等渗(IR)和低渗核黄素(HR)的结果。方法:回顾性研究,包括29例29眼圆锥角膜患者行角膜交联术,IR组15眼,HR组14眼。参数分析包括(随访1a):最佳矫正视力(BCVA),球体和柱体,中央和较薄处角膜厚度,平均... 详细信息

目的:比较圆锥角膜患者角膜交联(CXL)、等渗(IR)和低渗核黄素(HR)的结果。方法:回顾性研究,包括29例29眼圆锥角膜患者行角膜交联术,IR组15眼,HR组14眼。参数分析包括(随访1a):最佳矫正视力(BCVA),球体和柱体,中央和较薄处角膜厚度,平均和最大角膜曲率(分别为Km和Kmax),并发症及进展。结果:观察到两组的BCVA提高:治疗前IR组为0.26±0.57,HR组为0.47±0.72。术后1a,IR组为0.13±0.79,HR组为0.29±1.52,IR组BCVA更高(P=0.018)。术后1mo,两组中央角膜厚度(μm)均减少,但在接下来的数月中增加:术前IR组为497±28μm,HR组为432±14μm;术后1a,IR组为480±31μm,HR组为424±15μm。较薄处角膜厚度也是如此,术前IR组为487±29μm,HR组为410±20μm;术后1a,IR组为468±33μm,HR组为413±13μm。两组中Km和Kmax均降低。每组6眼呈现短暂的混浊,无持续性混浊。结论:在中央角膜厚度m的患者中,HR的使用似乎是一个有效的替代执行传统CXL的技术。

关键词：圆锥角膜交联术核黄素薄角膜

10,000 years of climate control over carbon accumulation in an Iberian bog(southwestern Europe)

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Geoscience Frontiers 2019年第4期10卷 1521-1533页

作者： Xabier Pontevedra-Pombal Daniel Castro martín Souto isabel Fraga William H. Blake maarten Blaauw José A. López-Sáez Sebastián Pérez-Díaz marcos Valcárcel Eduardo García-Rodeja Dpto.Edafoloxía e Química Agrícola Fac.BioloxíaUniversidade de Santiago de CompostelaGaliciaSpain Dpto.Botánica Fac.BioloxíaUniversidade de Santiago de CompostelaGaliciaSpain School of Geography Earth and Environmental SciencesUniversity of PlymouthUK School of Natural and Built Environment Queen’s University BelfastNorthern IrelandUK GI Arqueobiología Instituto de HistoriaCCHS - CSICMadridSpain Dpto.Xeografía Fac.Xeografía e HistoriaUniversidade de Santiago de CompostelaGaliciaSpain

The northwest region of the Iberian Peninsula is home to a unique ecosystem of bogs,which are particularly sensitive to projected climate cha *** this context,the rate of carbon(C)accumulation in Chao de Veiga *** intact raised bog,was *** in the accumulation rate over the past10 millennia were determined in a peat core of 847 cm in depth,with a high mean rate of peat growth(11 yr cm^-1,0.09 cm yr^-1).An age-depth model was generated from 22 14C dates and fallout ***,stratigraphical and physico-chemical data confirmed the existence of a single cycle of peat formation throughout the Holocene and the formation of ombrotrophic peat 9500 years *** total mean C content was 50.2%,and over 10 millennia 583 kg C m^-2 accumulated at a mean rate of 35.3 g C m^-2 yr^-1,with a long-term(apparent)rate of carbon accumulation in the catotelm of59.9 g C m^-2 yr^-*** values are much higher than reported for other Iberian peatlands and are amongst the highest documented for peatlands in the northern *** dynamics of C accumulation and other measured parameters reveals important variations throughout the *** could be associated with the main climatic events described in the northern hemisphere and are highly consistent with models established for northern *** Chao de Veiga mol raised bog is unique and of great potential value for carrying out high resolution palaeoenvironmental studies,especially in relation to regional and Iocal modulations in southern Europe.

关键词： Peatland Geochemistry Holocene Climate change Palaeoenvironmental reconstruction

Autoimmune Hepatitis as a Hepatic manifestation of Common Variable Immunodeficiency: A Case Report

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Open Journal of Gastroenterology 2022年第8期12卷 186-191页

作者： Oscar Leonel García Rodas Francisco Sánchez Salinas Scherezada maria isabel mejia Loza Department of Gastroenterology Hospital Juárez of México México City México

Common variable immunodeficiency (CVID) is one of the most prevalent primary immunodeficiency disorders, characterized by an alteration in the maturation of B lymphocytes. Patients with this condition are redisposed to a higher risk of infections. Despite being an immune deficiency disorder, the prevalence of autoimmune disorders is reported in more than 20% of patients. The likelihood of patients’ gastrointestinal tract being affected is relatively low, close to 6%. We present the case of a 22-year-old man with a history of CVID without medical treatment, who presented with upper gastrointestinal bleeding secondary to esophageal varices due to cirrhotic portal hypertension. Infectious and toxic causes of cirrhosis were ruled out. Histological changes compatible with autoimmune hepatitis (AIH) were documented by liver biopsy. The diagnosis of autoimmune diseases is a challenge in the presence of IDCV, we highlight the importance of establishing a timely diagnosis and an intentional search for these conditions to offer timely treatment and avoid late complications.

关键词： Immunodeficiency Hepatitis Liver Autoimmune