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CTNS Molecular Genetics Profile in a Portuguese Cystinosis Population

Open Journal of Genetics 2018年第4期8卷 91-100页

作者： Filipa Ferreira Ines Leal David Sousa Teresa Costa Conceicao Mota Ana Marta Gomes Daniela Lopes Maria do Carmo Macario isabel tavares Helena Pinto Joao Paulo Oliveira Rita Magrico Celia Carmona Sonia Ramos Raquel Neiva Ana Marcao Laura Vilarinho Newborn Screening Metabolism and Genetics UnitHuman Genetics DepartmentNational Institute of Health Dr Ricardo JorgePortoPortugal Centro Hospitalar Lisboa Norte Hospital de Santa MariaLisboaPortugal Centro Hospitalar Universitario do Porto PortoPortugal Centro Hospitalar Vila Nova de Gaia EspinhoPortugal Centro Hospitalar Universitario de Coimbra CHUCCoimbraPortugal Servico de Genetica Medica Centro Hospitalar de Sao JoaoPortoPortugal Unidade de Genetica Faculdade de Medicina da Universidade do PortoPortoPortugal I3S—Instituto de Investigacao e Inovacao em Saude PortoPortugal Servico de Nefrologia do Hospital Garcia de Orta AlmadaPortugal Research and Development Unit Department of Human GeneticsNational Institute of Health Dr Ricardo JorgePortoPortugal

Background: Cystinosis is a multisystemic autosomal recessive deficiency of the lysosomal membrane transporter protein (cystinosin) caused by mutations in CTNS gene. Objective: This study summarizes the Portuguese experience in the diagnosis and management of patients with this rare disease over the past few years and reports recurrent mutations in the CTNS gene. Methods: Unrelated patients from different pediatric and adult hospitals all over Portugal with non-nephrotic proteinuria, hypercalciuria, hypokalemia impaired proximal reabsorption of amino acids, glycosuria and hypophosphatemia, suggestive of a Fanconi syndrome and ocular problems, were studied. Intra-leukocyte cystine levels were determined and molecular analysis was performed, to determine the presence or absence of the 57-kb deletion in CTNS, followed by direct sequencing of the coding exons of CTNS. Results: From 1998 to 2017, twenty-one cystinotic patients were biochemically diagnosed. From the remaining seventeen (four deceased), eleven were studied for CTNS gene. Five out of eleven patients were homozygous for the 57-kb deletion (10/22;45.5%), and other five were compound heterozygous for this variant (15/22;68.2%). The other mutations found were p.Q128X (c.721 C>T;2/22), p.S139F (c.755 C>T;4/22) and c.18-21delGACT (p.T7FfsX7;1/22). All of these seventeen cystinotic patients are in treatment. Approximately 84% are adults, 16% are young children, and 54.5% are kidney transplant recipient. Conclusions: The authors would like to emphasize the importance of first screening for the 57-kb deletion since it is very common in our population. This genetic study is the first in our country and it could be the basis for future genetic counseling in Portuguese population.

关键词： Cystinosis CTNS Gene Mutational Spectrum Kidney Failure 57-kb Deletion

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Phase-driven progress in nanophotonic biosensing

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Light(Science & Applications) 2024年第5期13卷 798-800页

作者： isabel Barth Hakho Lee Center for Systems Biology Massachusetts General HospitalHarvard Medical SchoolBostonMA 02114USA

In the continuous pursuit of enhancing the sensitivity of nanophotonic biosensors by leveraging phase phenomena,a recent development involved the engineering of an atomically thin Ge2Sb2Te5 layer on a silver nanofilm ... 详细信息

关键词： silver Ge2Sb2Te5 pursuit

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Dysregulation of apoptosis in hepatocellular carcinoma cells

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World Journal of Gastroenterology 2009年第5期15卷 513-520页

作者： isabel Fabregat Institut d'Investigació Biomèdica de Bellvitge (IDIBELL) and Universitat de Barcelona 08907 L'Hospitalet Barcelona Spain

Hepatocellular carcinoma （HCC） is a major health prob- lem, being the sixth most common cancer world-wide. Dysregulation of the balance between proliferation and cell death represents a pro-tumorigenic principle in hu- man hepatocarcinogenesis. This review updates the recent relevant contributions reporting molecular altera- tions for HCC that induce an imbalance in the regulation of apoptosis. Alterations in the expression and/or activation of p53 are frequent in HCC cells, which confer on them resistance to chemotherapeutic drugs. Many HCCs are also insensitive to apoptosis induced either by death receptor ligands, such as FasL or TRAIL, or by transforming growth factor-beta （TGF-β）. Although the expression of some pro-apoptotic genes is decreased, the balance between death and survival is dysregulated in HCC mainly due to overactivation of anti-apoptotic pathways. Indeed, some molecules involved in counter- acting apoptosis, such as Bcl-X1, Mcl-1, c-IAP1, XIAP or survivin are over-expressed in HCC cells. Furthermore, some growth factors that mediate cell survival are upregulated in HCC, as well as the molecules involved in the machinery responsible for cleavage of their pro- forms to an active peptide. The expression and/or activation of the JAK/STAT, PI3K/AKT and RAS/ERKs path- ways are enhanced in many HCC cells, conferring on them resistance to apoptotic stimuli. Finally, recent evi- dence indicates that inflammatory processes, as well as the epithelial-mesenchymal transitions that occur in HCC cells to facilitate their dissemination, are related to cell survival. Therefore, therapeutic strategies to selectively inhibit anti-apoptotic signals in liver tumor cells have the potential to provide powerful tools to treat HCC.

关键词： Hepatocellular carcinoma cells Apoptosis Liver cancer p53, Transforming growth factor-beta Liver inflammation Epithelial-to-mesenchymal transition

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Effect of Polymer Inclusion in Preparation of Thick LZO Buffer Layers for YBCO Coated Conductors

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Journal of Materials Science & Technology 2013年第3期29卷 261-266页

作者： Vyshnavi Narayanan isabel Van Driessche Sol-gel Centre for Research on Inorganic Powders and Thin film Synthesis-SCRiPTS Department of Inorganic and Physical ChemistryGhent UniversityKrijgslaan 281-S3B-9000 GentBelgium

In this work, water-based precursor solutions suitable for dip-coating of thick La2Zr2O7 （LZO） buffer layers for coated conductors on Ni-5%W substrates with an inclusion of polymeric polyvinyl pyrrolidone were developed. The effect of varying percentage of the polymer addition on the preparation of the deposited films with maximum crack-free thickness was investigated. This novel water-based chemical solution deposition method involving polymers in two different chelate-chemistry compositions revealed the possibility to grow single, crack-free layers with thicknesses ranging from 140 to 280 nm, with good crystallinity and epitaxial growth. The effect of increasing polymer concentrations on the morphology and the structure of the films was studied. The appropriate buffer layer action of the films in preventing Ni diffusion was studied by X-ray photoelectron spectroscopy.

关键词： Buffer layers Thick lanthanum zirconate films Chemical solution deposition Polyvinyl pyrrolidone Water-based precursor design Coated conductors

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Platelet-rich plasma： combinational treatment modalities for musculoskeletal conditions

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Frontiers of Medicine 2018年第2期12卷 139-152页

作者： isabel Andia Michele Abate Regenerative Medicine Laboratory RioCruces Health Research Institute Cruces University Hospital 48903 Barakaldo Spain Department of Medicine and Science of Aging University G. d'Annunzio Chieti-Pescara 66013 Chieti Scalo Italy

Current research on common musculoskeletal problems, including osteoart]cular cona]t]ons, tendinopathies, and muscle injuries, focuses on regenerative translational medicine. Platelet-rich plasma therapies have emerged as a potential approach to enhance tissue repair and regeneration. Platelet-rich plasma application aims to provide supraphysiological concentrations of platelets and optionally leukocytes at injured/pathological tissues mimicking the initial stages of healing. However, the efficacy of platelet-rich plasma is controversial in chronic diseases because patients＇ outcomes show partial improvements. Platelet-rich plasma can be customized to specific conditions by selecting the most appropriate formulation and timing for application or by combining platelet-rich plasma with synergistic or complementary treatments. To achieve this goal, researchers should identify and enhance the main mechanisms of healing. In this review, the interactions between platelet-rich plasma and healing mechanisms were addressed and research opportunities for customized treatment modalities were outlined. The development of combinational platelet-rieh plasma treatments that can be used safely and effectively to manipulate healing mechanisms would be valuable and would provide insights into the processes involved in physiological healing and pathological failure.

关键词： regenerative medicine joint conditions muscle injuries platelet rich plasma tendinopathy healing mechanisms

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Changes in Olsen P in Relation to P Balance in Contrasting Agricultural Soils

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Pedosphere 2016年第5期26卷 636-642页

作者： isabel DIAZ Jose TORRENT Departamento de Ingeniería Aeroespacial y Mecánica de Fluidos Escuela Tdcnica Superior de Ingeniería Agronómica(ETSIA)Universidad de SevillaCtra de Utrera km 141013 Sevilla(Spain) Departamento de Agronomia Universidad de CordobaEdificio C4Campus de Rabanales14071 Cordoba(Spain)

Maintaining soil phosphorus （P） at adequate levels for plant growth requires assessing how the long-term P balance （viz., the difference between P inputs and outputs） results in changes in soil test P. The hypothesis that routinely measured soil properties can help predict the conversion factor of P balance into Olsen P was tested at 39 sites in agricultural areas of the Mediterranean region in Spair~. A set of soil samples from each site was analyzed for Olsen P, inorganic P （P extracted using 0.5 mol L-1 H2SO4）, pseudototal P （P extracted using 0.5 mol L-1 H2SO4 following ignition at 550 ~C）, and organic P （the difference between pseudototal P and inorganic P）. Organic and Olsen P were uncorrelated in most of the 39 soil sets, which suggests that organic P content changed little with P inputs and outputs. The slopes of the regression lines of Olsen P against pseudototal and inorganic P, which were used as two different measures of the conversion factor, ranged widely （from 0.03 to 0.25 approximately）, with their average values （about 0.10） being similar to those found in long-term experiments conducted in temperate areas. Neither conversion factor was significantly correlated with any routinely measured soil property; however, the conversion factor for inorganic P was significantly lower for calcareous soils than for noncalcareous soils. Our negative results suggest the need to isolate the influence of soil properties from that of management systems and environmental factors relating to P dynamics in future studies.

关键词： calcareous soils conversion factor inorganic P noncalcareous soils organic P pseudototal P soil property soil test P

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Refractive error study in young subjects：results from a rural area in Paraguay

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International Journal of Ophthalmology(English edition) 2017年第3期10卷 467-472页

作者： isabel Signes-Soler Non-govemmental Organization Vision Without Borders (Visio Sense Fronteres) Alicante 03710 Spain School of Advanced Education Research and Accreditation (SAERA) Castellon de la Plana 12001 Spain Faculty of Optics and Optometry University Complutense of Madrid Madrid 28037 Spain European University of Madrid Madrid 28108 Spain Foundation for the Visual Quality (FUNCAVIS) Alicante 03016 Spain Department of Optics Pharmacology and Anatomy University of Alicante Alicante 03690 Spain

AIM：To evaluate the distribution of refractive error in young subjects in a rural area of Paraguay in the context of an international cooperation campaign for the prevention of blindness. METHODS：A sample of 1466 young subjects（ranging from 3 to 22 years old）,with a mean age of 11.21±3.63 years old,were examined to assess their distance visual acuity（VA）and refractive error. The first screening examination performed by trained volunteers,included visual acuity testing,autokeratometry and non-cycloplegic autorefraction. Inclusion criteria for a second complete cycloplegic eye examination by an optometrist were VA 〈20/25（0.10 log MAR or 0.8 decimal）and/or corneal astigmatism ≥1.50 D. RESULTS：An uncorrected distance VA of 0 log MAR（1.0decimal）was found in 89.2% of children. VA 〈20/25 and/or corneal astigmatism ≥1.50 D was found in 3.9% of children（n=57）,with a prevalence of hyperopia of 5.2%（0.2%of the total）in this specific group. Furthermore,myopia（spherical equivalent ≤-0.5 D）was found in 37.7% of the refracted children（0.5% of the total）. The prevalence of refractive astigmatism（cylinder ≤-1.50 D）was 15.8%（0.6% of the total）. Visual impairment（VI）（0.05≤VA≤0.3）was found in 12/114（0.4%）of the refracted eyes. Main causes for VI were refractive error（58%）,retinal problems（17%,2/12）,albinism（17%,2/12）and unknown（8%,1/12）.CONCLUSION：A low prevalence of refractive error has been found in this rural area of Paraguay,with higher prevalence of myopia than of hyperopia.

关键词： refractive error blindness visual impairment myopia hyperopia

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Stressful living in lower-quality habitats?Body mass,feeding behavior and physiological stress levels in wild wood mouse populations

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Integrative Zoology 2019年第1期14卷 114-126页

作者： Álvaro NAVARRO-CASTILLA isabel BARJA Department of Biology Unit of ZoologyFaculty of SciencesAutonomous University of MadridSpain

Wild populations are continuously subjected to changes in environmental factors that pose different *** condition and hormones have been commonly used as health indicators due to their potential correlation with *** the present study,we analyzed whether habitats of different quality influenced body mass,food intake and physiological stress levels in wild wood mice(Apodemus sylvaticus).Field work was seasonally carried out in Holm oak woods and pine forests in central Spain.A total of 93 wood mice from 4 different populations(2 per habitat type)were *** each captured individual we noted body mass and food intake,measured as the amount of bait remaining in each *** physiological stress levels were measured non-inva-sively in collected fresh feces by quantifying fecal corticosterone metabolites(FCM)with a 5a-pregnane-3ß,11ß,21-triol-20-one enzyme *** mice abundances decreased from spring to summer,were higher in Holm oak woods than in pine forests and also resulted in different age-class distribution between both *** inhabiting pine forests showed a lower body mass and increased food intake,probably because of the comparatively lower food quality and availability in this ***,these individuals showed increased physiological stress levels,likely due to the lower quality habitat in relation to both food and vegetation cover ***,besides affecting local wood mouse abundance,our study underscores the effect of habitat quality on body mass,food intake and the endocrine stress *** the wood mouse’s piv-otal position in ecosystems,these results could help in the understanding of environmental traits hampering the viability of wild populations.

关键词： Apodemus sylvaticus body condition corticosterone environmental factors fecal corticosterone metabolites feeding behavior

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Comparison of Parallel Kinematic Machines with Three Translational Degrees of Freedom and Linear Actuation

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Chinese Journal of Mechanical Engineering 2015年第4期28卷 841-850页

作者： PRAUSE isabel CHARAF EDDINE Sami CORVES Burkhard Department of Mechanism Theory and Dynamics of Machines RWTH Aachen University

The development of new robot structures, in particular of parallel kinematic machines（PKM）, is widely systematized by different structure synthesis methods. Recent research increasingly focuses on PKM with less than six degrees of freedom（DOF）. However, an overall comparison and evaluation of these structures is missing. In order to compare symmetrical PKM with three translational DOF, different evaluation criteria are used. Workspace, maximum actuation forces and velocities, power, actuator stiffness, accuracy and transmission behavior are taken into account to investigate strengths and weaknesses of the PKMs. A selection scheme based on possible configurations of translational PKM including different frame configurations is presented. Moreover, an optimization method based on a genetic algorithm is described to determine the geometric parameters of the selected PKM for an exemplary load case and a prescribed workspace. The values of the mentioned criteria are determined for all considered PKM with respect to certain boundary conditions. The distribution and spreading of these values within the prescribed workspace is presented by using box plots for each criterion. Thereby, the performance characteristics of the different structures can be compared directly. The results show that there is no ＂best＂ PKM. Further inquiries such as dynamic or stiffness analysis are necessary to extend the comparison and to finally select a PKM.

关键词： parallel kinematic machines comparison benchmark selection scheme

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Importance of human leukocyte antigen antibodies and leukocyte antigen/killer-cell immunoglobulin-like receptor genes in liver transplantation

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World Journal of Gastroenterology 2023年第5期29卷 766-772页

作者： Manuel Muro isabel Legaz Immunology Service University Clinical Hospital Virgen de la Arrixaca-Biomedical Research Institute of Murcia(IMIB)Murcia 30120Spain Department of Legal and Forensic Medicine Biomedical Research Institute(IMIB)Regional Campus of International Excellence“Campus Mare Nostrum”Faculty of MedicineUniversity of MurciaMurcia 30120Spain

Many mechanisms have been proposed to explain the hypothetical state of hepatic tolerance,which is described by eventual imbalances or deregulation in the balance of cytokines,mediators,effectors,and regulatory cells in the complex milieu of the *** this section,we will comment on the importance of donorspecific anti-human leukocyte antigen(HLA)antibodies(DSA)as well as the compatibility and pairings of HLA and killer-cell immunoglobulin-like receptor(KIR)genotypes in the evolution of liver ***,HLA compatibility,viral infections,and HLA-C/KIR combinations have all been linked to liver transplant rejection and *** have been reports of increased risk of acute and chronic rejection with ductopenia,faster graft fibrosis,biliary problems,poorer survival,and even de novo autoimmune hepatitis when DSAs are present in the *** mean fluorescence intensity(MFI)values of the DSAs and smaller graft size were associated with poorer patient outcomes,implying that high-risk patients with preformed DSAs should be considered for selecting the graft placed and desensitization methods,according to the ***,in a combined kidney-liver transplant,a pretransplant with a visible expression of several DSAs revealed that these antibodies were resistant to *** renal graft was lost owing to antibody-mediated rejection(AMR).The HLA antigens expressed by the transplanted liver graft influenced antibody *** are increasingly diagnosing AMR in liver transplants,and desensitization therapy has even been employed in situations of AMR,particularly in patients with DSAs in kidney-hepatic transplants and high-class II MFI due to *** conclusion,after revealing the negative impacts of DSAs with high MFI,pretransplant virtual crossmatch techniques may be appropriate to improve evolution;however,they may extend cold ischemia periods by requiring the donor to be typed.

关键词： Acute rejection Alloantibodies donor-specific antibodies-donor-specific anti-human leukocyte antigen antibodies Chronic rejection Human leukocyte antigen matching Killer-cell immunoglobulin-like receptor matching Liver transplant

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