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Sample records for washington col wassell

  1. Environmentamb-Col

    OpenAIRE

    2010-01-01

    Environmentamb-col es una organización privada para el tratamiento de residuos sólidos de la industria de Cundinamarca. Su propósito es mejorar la calidad del ambiente y desarrollar conciencia ecológica en la población urbana y rural. Ubicada en la cabecera del municipio de Chocontá, la organización cuenta con una planta de tratamiento de residuos, donde se recicla y separa el material desechado

  2. Col John Boyds Innovative DNA

    Science.gov (United States)

    2015-09-01

    Steve Jobs put it, why do some people seem to “ think different”? Why are some people more successful innovators than others? Dyer, Gregersen, and...41–156. 4. Robert Coram, Boyd: The Fighter Pilot Who Changed the Art of War (Boston: Little, Brown , 2002). Let us know what you think ! Leave a comment...September–October 2015 | 99 COMMENTARY Col John Boyd’s Innovative DNA Col Houston R. Cantwell, USAF Surprisingly, few Airmen have heard of Col John

  3. Washington, DC

    Science.gov (United States)

    2002-01-01

    Citizens of the United States vote today (November 7, 2000) to determine who will be the next president and vice president of the country, as well as who will fill a number of congressional and senate seats that are up for election. This image of the U.S. capital city-Washington, D.C.-was acquired on June 1 by the Advanced Spaceborne Thermal Emission and Reflection Radiometer (ASTER), a Japanese sensor flying aboard NASA's Terra spacecraft. The scene encompasses an area 14 km wide by 13.7 km tall, and was made using a combination of ASTER's visible and near-infrared channels. In this image, vegetation appears red, buildings and paved areas appear light blue, and the waters of the Anacostia and Potomac Rivers are dark grey. ASTER's 15-meter spatial resolution allows us to see individual buildings, including the White House, the Jefferson Memorial, and the Washington Monument with its shadow. Image courtesy NASA/GSFC/MITI/ERSDAC/JAROS, and U.S./Japan ASTER Science Team

  4. Retratos de Colón

    Directory of Open Access Journals (Sweden)

    Enrique Uribe White

    1968-02-01

    Full Text Available Hay otro cuadro que prefiero, debido al persistente pensamiento de que puede ser un retrato póstumo de Colón, por alguien que lo conoció. por el año de 1520 Alejo Fernández de Córdoba pintó para la confradía de pilotos, conramaestres y dueños de barcos, en Sevilla un cuadro llamado Nuestra Señora del Buen Aire.

  5. 1975 Washington timber harvest.

    Science.gov (United States)

    J.D. Jr. Lloyd

    1977-01-01

    In 1975, the Washington timber harvest declined for the 2d year to 6.2 billion board feet, 10 percent below 1974, and the lowest level in 8 years. The decrease, which occurred on almost all ownerships, amounted to 561 million board feet in western Washington and 130 million board feet in eastern Washington.

  6. Col11a1 Regulates Bone Microarchitecture during Embryonic Development

    Directory of Open Access Journals (Sweden)

    Anthony Hafez

    2015-12-01

    Full Text Available Collagen XI alpha 1 (Col11a1 is an extracellular matrix molecule required for embryonic development with a role in both nucleating the formation of fibrils and regulating the diameter of heterotypic fibrils during collagen fibrillar assembly. Although found in many different tissues throughout the vertebrate body, Col11a1 plays an essential role in endochondral ossification. To further understand the function of Col11a1 in the process of bone formation, we compared skeletal mineralization in wild-type (WT mice and Col11a1-deficient mice using X-ray microtomography (micro-CT and histology. Changes in trabecular bone microstructure were observed and are presented here. Additionally, changes to the periosteal bone collar of developing long bones were observed and resulted in an increase in thickness in the case of Col11a1-deficient mice compared to WT littermates. Vertebral bodies were incompletely formed in the absence of Col11a1. The data demonstrate that Col11a1 depletion results in alteration to newly-formed bone and is consistent with a role for Col11a1 in mineralization. These findings indicate that expression of Col11a1 in the growth plate and perichondrium is essential for trabecular bone and bone collar formation during endochondral ossification. The observed changes to mineralized tissues further define the function of Col11a1.

  7. Detection of COL III in Parchment by Amino Acid Analysis

    DEFF Research Database (Denmark)

    Vestergaard Poulsen Sommer, Dorte; Larsen, René

    2016-01-01

    Cultural heritage parchments made from the reticular dermis of animals have been subject to studies of deterioration and conservation by amino acid analysis. The reticular dermis contains a varying mixture of collagen I and III (COL I and III). When dealing with the results of the amino acid...... analyses, till now the COL III content has not been taken into account. Based on the available amino acid sequences we present a method for determining the amount of COL III in the reticular dermis of new and historical parchments calculated from the ratio of Ile/Val. We find COL III contents between 7...... and 32 % in new parchments and between 0.2 and 40 % in the historical parchments. This is consistent with results in the literature. The varying content of COL III has a significant influence on the uncertainty of the amino acid analysis. Although we have not found a simple correlation between the COL...

  8. col, pepino, lechuga, zanahoria y remolacha

    Directory of Open Access Journals (Sweden)

    Roberto Valdés Roque

    2006-01-01

    Full Text Available El objetivo del presente trabajo fue conformar los complejos tecnológicos para cultivos varios (hortalizas menores: cebolla, ajo, col, pepino, lechuga, zanahoria y remolacha. Para la conformación de los mismos se realizó una revisión bibliográfica relacionada con las temáticas de mecanización, donde se obtuvieron los criterios y orientaciones fundamentales para la selección de los equipos componentes de los complejos tecnológicos, así como las características técnicas que deben tener con el propósito de cumplir las exigencias agrotécnicas de los cultivos. Estos objetivos fueron cumplidos como puede apreciarse en los resultados y las conclusiones.

  9. University of Washington

    Data.gov (United States)

    Federal Laboratory Consortium — The theme of the University of Washington based Center for Child Environmental Health Risks Research (CHC) is understanding the biochemical, molecular and exposure...

  10. Rare hereditary COL4A3/COL4A4 variants may be mistaken for familial focal segmental glomerulosclerosis

    Science.gov (United States)

    Malone, Andrew F; Phelan, Paul J; Hall, Gentzon; Cetincelik, Umran; Homstad, Alison; Alonso, Andrea; Jiang, Ruiji; Lindsey, Thomas; Wu, Guanghong; Sparks, Matthew A; Smith, Stephen R; Webb, Nicholas J A; Kalra, Philip; Adeyemo, Adebowale; Shaw, Andrey S; Conlon, Peter J; Jennette, J Charles; Howell, David N; Winn, Michelle P; Gbadegesin, Rasheed A

    2014-01-01

    Focal segmental glomerulosclerosis (FSGS) is a histological lesion with many causes including inherited genetic defects with significant proteinuria being the predominant clinical finding at presentation. Mutations in COL4A3 and COL4A4 are known to cause Alport syndrome, thin basement membrane nephropathy, and to result in pathognomonic glomerular basement membrane findings. Secondary FSGS is known to develop in classic Alport Syndrome at later stages of the disease. Here, we present seven families with rare or novel variants in COL4A3 or COL4A4 (six with single and one with two heterozygous variants) from a cohort of 70 families with a diagnosis of hereditary FSGS. The predominant clinical findings at diagnosis were proteinuria associated with hematuria. In all seven families, there were individuals with nephrotic range proteinuria with histologic features of FSGS by light microscopy. In one family, electron microscopy showed thin glomerular basement membrane, but four other families had variable findings inconsistent with classical Alport nephritis. There was no recurrence of disease after kidney transplantation. Families with COL4A3 and COL4A4 variants that segregated with disease represent 10% of our cohort. Thus, COL4A3 and COL4A4 variants should be considered in the interpretation of next-generation sequencing data from such patients. Furthermore, this study illustrates the power of molecular genetic diagnostics in the clarification of renal phenotypes. PMID:25229338

  11. 1974 Washington timber harvest.

    Science.gov (United States)

    J.D. Jr. Lloyd

    1976-01-01

    The 1974 timber harvest of 6.88 billion board feet declined 933 million board feet (11.9 percent) below the record 1973 harvest. Decreases occurred in almost all owner groups. In western Washington the decline was 856 million board feet (13.0 percent). In eastern Washington the decline was 76 million board feet (6.3 percent).

  12. Booker T. Washington Rediscovered

    Science.gov (United States)

    Bieze, Michael Scott, Ed.; Gasman, Marybeth, Ed.

    2012-01-01

    Booker T. Washington, a founding father of African American education in the United States, has long been studied, revered, and reviled by scholars and students. Born into slavery, freed and raised in the Reconstruction South, and active in educational reform through the late nineteenth and early twentieth centuries, Washington sought to use…

  13. Structural changes in mixed Col I/Col V collagen gels probed by SHG microscopy: implications for probing stromal alterations in human breast cancer.

    Science.gov (United States)

    Ajeti, Visar; Nadiarnykh, Oleg; Ponik, Suzanne M; Keely, Patricia J; Eliceiri, Kevin W; Campagnola, Paul J

    2011-08-01

    Second Harmonic Generation (SHG) microscopy has been previously used to describe the morphology of collagen in the extracellular matrix (ECM) in different stages of invasion in breast cancer. Here this concept is extended by using SHG to provide quantitative discrimination of self-assembled collagen gels, consisting of mixtures of type I (Col I) and type V (Col V) isoforms which serve as models of changes in the ECM during invasion in vivo. To investigate if SHG is sensitive to changes due to Col V incorporation into Col I fibrils, gels were prepared with 0-20% Col V with the balance consisting of Col I. Using the metrics of SHG intensity, fiber length, emission directionality, and depth-dependent intensities, we found similar responses for gels comprised of 100% Col I, and 95% Col I/5% Col V, where these metrics were all significantly different from those of the 80% Col I/20% Col V gels. Specifically, the gels of lower Col V content produce brighter SHG, are characterized by longer fibers, and have a higher forward/backward emission ratio. These attributes are all consistent with more highly organized collagen fibrils/fibers and are in agreement with previous TEM characterization as well as predictions based on phase matching considerations. These results suggest that SHG can be developed to discriminate Col I/Col V composition in tissues to characterize and follow breast cancer invasion.

  14. SearchCol: Metaheuristic Search by Column Generation

    Science.gov (United States)

    Alvelos, Filipe; de Sousa, Amaro; Santos, Dorabella

    We propose a general framework for the combination of column generation (CG) with metaheuristics (MHs) aiming to solve combinatorial optimization problems amenable for decomposition approaches, "SearchCol". The combination of the two approaches is based on representing the solution of the problem as the selection of a subset of solutions of smaller (sub)problems which are generated by CG. In each iteration of a SearchCol algorithm, CG provides the optimal solution (primal and dual) to the MH which returns a (incumbent) solution used for defining the (perturbed) CG problem of the next iteration. We describe the SearchCol framework and a general SearchCol algorithm based on local search.

  15. Washington County Crash Data

    Data.gov (United States)

    Allegheny County / City of Pittsburgh / Western PA Regional Data Center — Contains locations and information about every crash incident reported to the police in Washington County from 2011 to 2015. Fields include injury severity,...

  16. Detection of COL III in parchment by amino acid analysis.

    Science.gov (United States)

    Sommer, Dorte V P; Larsen, René

    2016-01-01

    Cultural heritage parchments made from the reticular dermis of animals have been subject to studies of deterioration and conservation by amino acid analysis. The reticular dermis contains a varying mixture of collagen I and III (COL I and III). When dealing with the results of the amino acid analyses, till now the COL III content has not been taken into account. Based on the available amino acid sequences, we present a method for determining the amount of COL III in the reticular dermis of new and historical parchments calculated from the ratio of Ile/Val. We find COL III contents between 7 and 32 % in new parchments and between 0.2 and 40 % in the historical parchments. This is consistent with results in the literature. The varying content of COL III has a significant influence on the uncertainty of the amino acid analysis. Although we have not found a simple correlation between the COL III content and the degree of deterioration, our results show that this question must be taken into consideration in future studies of the chemical and physical deterioration of parchment measured by amino acid analysis and other analytical methods.

  17. Rare hereditary COL4A3/COL4A4 variants may be mistaken for familial focal segmental glomerulosclerosis

    OpenAIRE

    Malone, Andrew F.; Phelan, Paul J.; Hall, Gentzon; Cetincelik, Umran; Homstad, Alison; Alonso, Andrea; Jiang, Ruiji; Lindsey, Thomas; Wu, Guanghong; Sparks, Matthew A.; Smith, Stephen R.; Webb, Nicholas J. A.; Kalra, Philip; Adeyemo, Adebowale; Shaw, Andrey S.

    2014-01-01

    Focal segmental glomerulosclerosis (FSGS) is a histological lesion with many causes including inherited genetic defects with significant proteinuria being the predominant clinical finding at presentation. Mutations in COL4A3 and COL4A4 are known to cause Alport syndrome, thin basement membrane nephropathy, and to result in pathognomonic glomerular basement membrane findings. Secondary FSGS is known to develop in classic Alport Syndrome at later stages of the disease. Here, we present seven fa...

  18. Mapeig col·laboratiu de conflictes socioambientals

    OpenAIRE

    Pérez López, Alfons

    2011-01-01

    L’objectiu general del MCA és desenvolupar una eina que permeti, per una banda, representar i publicar informació en base cartogràfica de conflictes socioambientals per fer-los visibles i despertar la consciència pública, enfortint i apoderant els afectats i afectades, organitzacions socials que els/les hi donen suport; i d’altra banda, que permeti treballar conjuntament i de manera col·laborativa, la informació dels conflictes socioambientals. Els objectius específics del mapatge col·l...

  19. EuroCirCol: A key to New Physics

    CERN Multimedia

    Johannes Gutleber

    2015-01-01

    Monday 1 June saw the start of EuroCirCol, the EC-funded part of the FCC study that will develop the conceptual design for an energy-frontier hadron collider.   Attendees at the EuroCirCol meeting at CERN. The EuroCirCol kick-off event at CERN on 2 to 4 June brought together 62 participants to constitute governance bodies, commit to the project plan and align the organisation, structures and processes of 16 institutions from 10 countries. The goal of the project is to conceive a post-LHC research infrastructure around a 100 km circular energy-frontier hadron collider capable of reaching 100 TeV collisions. The project officially started on 1 June and will run for four years. The total estimated budget of 11.2 MEUR includes a 2.99 MEUR contribution from the Horizon 2020 programme dedicated to the development of new world-class research infrastructures. EuroCirCol will deliver a design for a hadron collider as part of the broader Future Circular Collider (FCC) study. It will provide input to an...

  20. Complete COL1A1 allele deletions in osteogenesis imperfecta

    NARCIS (Netherlands)

    van Dijk, Fleur S.; Huizer, Margriet; Kariminejad, Ariana; Marcelis, Carlo L.; Plomp, Astrid S.; Terhal, Paulien A.; Meijers-Heijboer, Hanne; Weiss, Marjan M.; van Rijn, Rick R.; Cobben, Jan M.; Pals, Gerard

    2010-01-01

    Purpose: To identify a molecular genetic cause in patients with a clinical diagnosis of osteogenesis imperfecta (OI) type I/IV. Methods: The authors performed multiplex ligation-dependent probe amplification analysis of the COL1A1 gene in a group of 106 index patients. Results: In four families with

  1. Complete COL1A1 allele deletions in osteogenesis imperfecta

    NARCIS (Netherlands)

    van Dijk, Fleur S.; Huizer, Margriet; Kariminejad, Ariana; Marcelis, Carlo L.; Plomp, Astrid S.; Terhal, Paulien A.; Meijers-Heijboer, Hanne; Weiss, Marjan M.; van Rijn, Rick R.; Cobben, Jan M.; Pals, Gerard

    2010-01-01

    Purpose: To identify a molecular genetic cause in patients with a clinical diagnosis of osteogenesis imperfecta (OI) type I/IV. Methods: The authors performed multiplex ligation-dependent probe amplification analysis of the COL1A1 gene in a group of 106 index patients. Results: In four families with

  2. No association between polymorphisms and haplotypes of COL1A1 and COL1A2 genes and osteoporotic fracture in postmenopausal Chinese women

    Institute of Scientific and Technical Information of China (English)

    Wei-wei HU; Miao LI; Yu-juan LIU; Zhen-Iin ZHANG; Jin-wei HE; Hao ZHANG; Chun WANG; Jie-mei GU; Hua YUE; Yao-hua KE; Yun-qiu HU; Wen-zhen FU

    2011-01-01

    Aim: To study whether genetic polymorphisms of COL1A1 and COL1A2 genes affected the onset of fracture in postmenopausal Chinese women.Methods: SNPs in COL1A1 and COL1A2 genes were identified via direct sequencing in 32 unrelated postmenopausal Chinese women.Ten SNPs were genotyped in 1252 postmenopausal Chinese women. The associations were examined using both single-SNP and hapIotype tests using logistic regression.Results: Twenty four (4 novel) and 28 (7 novel) SNPs were identified in COL1A1 and COL1A2 gene, respectively. The distribution frequencies of 2 SNPs in COL1A1 (rs2075554 and rs2586494) and 3 SNPs in COL1A2 (rs42517, rs1801182, and rs42524) were significantly different from those documented for the European Caucasian population. No significant difference was observed between fracture and control groups with respect to allele frequency or genotype distribution in 9 selected SNPs and haplotype. No significant association was found between fragility fracture and each SNP or haplotype. The results remained the same after additional corrections for other risk factors such as weight, height, and bone mineral density.Conclusion: Our results show no association between common genetic variations of COL1A1 and COL1A2 genes and fracture, suggesting the complex genetic background of osteoporotic fractures.

  3. A comparative study on in vitro osteogenic priming potential of electron spun scaffold PLLA/HA/Col, PLLA/HA, and PLLA/Col for tissue engineering application.

    Science.gov (United States)

    Balaji Raghavendran, Hanumantha Rao; Puvaneswary, Subramaniam; Talebian, Sepehr; Murali, Malliga R; Raman Murali, Malliga; Naveen, Sangeetha V; Vasudevaraj Naveen, Sangeetha; Krishnamurithy, G; McKean, Robert; Kamarul, Tunku

    2014-01-01

    A comparative study on the in vitro osteogenic potential of electrospun poly-L-lactide/hydroxyapatite/collagen (PLLA/HA/Col, PLLA/HA, and PLLA/Col) scaffolds was conducted. The morphology, chemical composition, and surface roughness of the fibrous scaffolds were examined. Furthermore, cell attachment, distribution, morphology, mineralization, extracellular matrix protein localization, and gene expression of human mesenchymal stromal cells (hMSCs) differentiated on the fibrous scaffolds PLLA/Col/HA, PLLA/Col, and PLLA/HA were also analyzed. The electrospun scaffolds with a diameter of 200-950 nm demonstrated well-formed interconnected fibrous network structure, which supported the growth of hMSCs. When compared with PLLA/H%A and PLLA/Col scaffolds, PLLA/Col/HA scaffolds presented a higher density of viable cells and significant upregulation of genes associated with osteogenic lineage, which were achieved without the use of specific medium or growth factors. These results were supported by the elevated levels of calcium, osteocalcin, and mineralization (PCol/HA scaffolds exhibited superior osteoinductivity, when compared with PLLA/Col or PLLA/HA scaffolds. These findings indicated that the fibrous structure and synergistic action of Col and nano-HA with high-molecular-weight PLLA played a vital role in inducing osteogenic differentiation of hMSCs. The data obtained in this study demonstrated that the developed fibrous PLLA/Col/HA biocomposite scaffold may be supportive for stem cell based therapies for bone repair, when compared with the other two scaffolds.

  4. Tras la estela de Colón

    OpenAIRE

    Carmen Martínez Martin

    2011-01-01

    El más trascendental y conocido de los viajes de exploración llevado a cabo en la era de los grandes descubrimientos fue el protagonizado por Cristóbal Colón, quien, con el apoyo de la corona de Castilla, logró atravesar el océano Atlántico y descubrir el nuevo mundo.

  5. Tras la estela de Colón

    Directory of Open Access Journals (Sweden)

    Carmen Martínez Martin

    2011-12-01

    Full Text Available El más trascendental y conocido de los viajes de exploración llevado a cabo en la era de los grandes descubrimientos fue el protagonizado por Cristóbal Colón, quien, con el apoyo de la corona de Castilla, logró atravesar el océano Atlántico y descubrir el nuevo mundo.

  6. Dietary Lecithin Decreases Skeletal Muscle COL1A1 and COL3A1 Gene Expression in Finisher Gilts

    Directory of Open Access Journals (Sweden)

    Henny Akit

    2016-06-01

    Full Text Available The purpose of this study was to investigate the effect of dietary lecithin on skeletal muscle gene expression of collagen precursors and enzymes involved in collagen synthesis and degradation. Finisher gilts with an average start weight of 55.9 ± 2.22 kg were fed diets containing either 0, 4, 20 or 80 g/kg soybean lecithin prior to harvest for six weeks and the rectus abdominis muscle gene expression profile was analyzed by quantitative real-time PCR. Lecithin treatment down-regulated Type I (α1 procollagen (COL1A1 and Type III (α1 procollagen (COL3A1 mRNA expression ( p < 0.05, respectively, indicating a decrease in the precursors for collagen synthesis. The α-subunit of prolyl 4-hydroxylase (P4H mRNA expression also tended to be down-regulated ( p = 0.056, indicating a decrease in collagen synthesis. Decreased matrix metalloproteinase-1 (MMP-1 mRNA expression may reflect a positive regulatory response to the reduced collagen synthesis in muscle from the pigs fed lecithin ( p = 0.035. Lecithin had no effect on tissue inhibitor metalloproteinase-1 (TIMP-1, matrix metalloproteinase-13 (MMP-13 and lysyl oxidase mRNA expression. In conclusion, lecithin down-regulated COL1A1 and COL3A1 as well as tended to down-regulate α-subunit P4H expression. However, determination of muscle collagen content and solubility are required to support the gene functions.

  7. Washington State Biofuels Industry Development

    Energy Technology Data Exchange (ETDEWEB)

    Gustafson, Richard [Univ. of Washington, Seattle, WA (United States)

    2017-04-09

    The funding from this research grant enabled us to design, renovate, and equip laboratories to support University of Washington biofuels research program. The research that is being done with the equipment from this grant will facilitate the establishment of a biofuels industry in the Pacific Northwest and enable the University of Washington to launch a substantial biofuels and bio-based product research program.

  8. Mutation Analysis of COL1A1 and COL1A2 in Fetuses with Osteogenesis Imperfecta Type II/III.

    Science.gov (United States)

    Wang, Wenbo; Wu, Qichang; Cao, Lin; Sun, Li; Xu, Yasong; Guo, Qiwei

    2015-01-27

    Aim: To analyze COL1A1/2 mutations in prenatal-onset OI for determine the proportion of mutations in type I collagen genes among prenatal onset OI and to provide additional data for genotype-phenotype analyses. Material and Methods: Ten cases of severe fetal short-limb dwarfism detected by antenatal ultrasonography were referred to our center. Before the termination of pregnancy, cordocentesis was performed for fetal karyotype and COL1A1/2 gene sequencing analysis. Postmortem radiographic examination was performed at all instances for definitive diagnosis. Results: COL1A1 and COL1A2 SNP and mutations were identified in all the cases. Among these, one synonymous SNP and four synonymous SNPs were recognized in COL1A1/2, respectively, seven cases have distinct heterozygous mutations and six new COL1A1/2 gene mutations were identified. Conclusion: There has been substantial progress in the identification of the molecular defects responsible for skeletal dysplasias. With the constant increase in the number of identified mutations in COL1A1 and COL1A2, genotype-phenotype correlation is becoming increasingly pertinent. © 2015 S. Karger AG, Basel.

  9. A comparative study on in vitro osteogenic priming potential of electron spun scaffold PLLA/HA/Col, PLLA/HA, and PLLA/Col for tissue engineering application.

    Directory of Open Access Journals (Sweden)

    Hanumantha Rao Balaji Raghavendran

    Full Text Available A comparative study on the in vitro osteogenic potential of electrospun poly-L-lactide/hydroxyapatite/collagen (PLLA/HA/Col, PLLA/HA, and PLLA/Col scaffolds was conducted. The morphology, chemical composition, and surface roughness of the fibrous scaffolds were examined. Furthermore, cell attachment, distribution, morphology, mineralization, extracellular matrix protein localization, and gene expression of human mesenchymal stromal cells (hMSCs differentiated on the fibrous scaffolds PLLA/Col/HA, PLLA/Col, and PLLA/HA were also analyzed. The electrospun scaffolds with a diameter of 200-950 nm demonstrated well-formed interconnected fibrous network structure, which supported the growth of hMSCs. When compared with PLLA/H%A and PLLA/Col scaffolds, PLLA/Col/HA scaffolds presented a higher density of viable cells and significant upregulation of genes associated with osteogenic lineage, which were achieved without the use of specific medium or growth factors. These results were supported by the elevated levels of calcium, osteocalcin, and mineralization (P<0.05 observed at different time points (0, 7, 14, and 21 days. Furthermore, electron microscopic observations and fibronectin localization revealed that PLLA/Col/HA scaffolds exhibited superior osteoinductivity, when compared with PLLA/Col or PLLA/HA scaffolds. These findings indicated that the fibrous structure and synergistic action of Col and nano-HA with high-molecular-weight PLLA played a vital role in inducing osteogenic differentiation of hMSCs. The data obtained in this study demonstrated that the developed fibrous PLLA/Col/HA biocomposite scaffold may be supportive for stem cell based therapies for bone repair, when compared with the other two scaffolds.

  10. Mutation analysis of COL4A3 and COL4A4 genes in a Chinese autosomal-dominant Alport syndrome family

    Indian Academy of Sciences (India)

    LIWEI GUO; DUAN LI; SHUANGSHUANG DONG; DONGHAO WANG; BAOSHENG YANG; YANMEI HUANG

    2017-06-01

    Autosomal dominant Alport syndrome (ADAS) accounts for 5% of all cases of Alport syndrome (AS), a primary basement membrane disorder arising from mutations in genes encoding the type IV collagen protein family.Mutationsin COL4A3 and COL4A4 genes were reported to be associated with ADAS. In this study, clinical data in a large consanguineous family with seven affected members were reviewed, and genomic DNA was extracted. For mutationscreening, all exons of COL4A3 and COL4A4 genes were polymerase chain reaction-amplified and direct sequenced from genomic DNA, and the mutations were analyzed by comparing with members in this family, 100 ethnicitymatchedcontrols and the sequence of COL4A3 and COL4A4 genes from GenBank. A novel mutation determining a nucleotide change was found, i.e. c.4195 A>T (p.Met1399Leu) at 44th exon of COL4A4 gene, and this mutationshowed heterozygous in all patients of this family. Also a novel intron mutation (c.4127+11 C>T) was observed at COL4A4 gene. Thus the novel missense mutation c.4195 A>T (p.Met1399Leu) and the intron mutation (c.4127+11C>T) at COL4A4 gene might be responsible for ADAS of this family. Our results broadened the spectrum of mutations in COL4A4 and had important implications in the diagnosis, prognosis, and genetic counselling of ADAS.

  11. Colágeno na cartilagem osteoartrótica

    Directory of Open Access Journals (Sweden)

    Ana Paula P. Velosa

    2003-06-01

    Full Text Available A cartilagem articular é um tecido altamente especializado, composto por células, os condrócitos, e um conjunto de macromoléculas, como o colágeno e os proteoglicanos. O colágeno é uma proteína fibrilar que garante resistência ao tecido, enquanto os proteoglicanos têm a função de mola biológica, sendo responsáveis pela compressibilidade da cartilagem. A complexa interação entre estas duas proteínas garante a elasticidade. Estas características específicas da cartilagem são essenciais para amortecer as grandes forças de impacto a que as articulações diartrodiais estão submetidas, sem muito gasto de energia, visto tratar-se de um tecido avascular. Em processos artrósicos ocorre um desequilíbrio entre a produção de componentes da matriz extracelular e destruição pelas metaloproteases, levando à degradação e perda do tecido cartilaginoso. A fase inicial da osteoartrose é marcada por perda de fragmentos de proteoglicanos para o líquido sinovial, aumento dos colágenos tipo II e tipo VI, aparecimento dos colágenos I e III, não típicos da cartilagem, e diminuição do colágeno tipo IX, que é importante para manter a integridade da matriz extracelular, além do entumescimento da cartilagem. Como conseqüência, a cartilagem perde suas características específicas, levando a alterações na função articular. A evolução da doença promove diminuição significativa das proteínas, até mesmo do colágeno tipo XI, que tem localização mais interna na estrutura da fibrila heterotípica, e, portanto levando até a exposição do osso. Até o momento, o tratamento da osteoartrose está baseado principalmente no controle da dor e/ou inflamação, não diminuindo ou impedindo a degradação da cartilagem articular. Neste aspecto a perspectiva de tratamento futuro da osteoartrose estaria na utilização de inibidores das metaloproteases associadas a condroprotetores interferindo no "turnover" da cartilagem e

  12. A Study on the Dynamic Mechanism of the Formation of Mesoscale Vortex in Col Field

    Institute of Scientific and Technical Information of China (English)

    JIANG Yongqiang; WANG Yuan; HUANG Hong

    2012-01-01

    The mesoscale vortex associated with a mesoscale low-level jet (mLLJ) usually causes heavy rainfall in the col field.The col field is defined as a region between two highs and two lows,with the isobaric surface similar to a col.Using a two-dimensional shallow water model,the meso-β scale vortex couplets (MβVCs)induced by eight types of mesoscale wind perturbations in an ideal col field were numerically simulated.With the sizes of ~100 km,the MβVCs induced by northerly perturbation (NP) and southerly perturbation (SP)moved toward the col point.The sizes of MβVCs induced by southwesterly perturbation (SWP),southeasterly perturbation (SEP),northwesterly perturbation (NWP),and northeasterly perturbation (NEP) were relatively small for the perturbations moving toward dilatation axis.The MβVC induced by easterly perturbation (EP) and westerly perturbation (WP) could not develop because they quickly moved away from the col point,before the circulation could form.The size of the circulation was determined by the distance between the vortex and the col point.The closer to the col point the vortex was,the larger the size of vortex.The comparisons of maximum vorticity and vorticity root mean square error (RMSE) of the NP,the SWP,and the WP show that the maximum vorticity and the vorticity RMSE of the NP decreased slower than other perturbations.Therefore,the weak environment of the col field favors the maintenance of vorticity and the formation of vortex.When a mesoscalc vortex forms near the col point or moves toward the col point,it may maintain a quasi-stationary state in the stable col field.

  13. Cisto gigante de colédoco Giant choledochal cyst

    Directory of Open Access Journals (Sweden)

    Olival Cirilo Lucena da Fonseca-Neto

    2007-12-01

    Full Text Available INTRODUÇÃO: A doença cística das vias biliares é anomalia congênita que pode acometer as vias biliares intra e/ou extra-hepáticas. A extra-hepática inclui os cistos de colédoco e a intra-hepática é conhecida por Doença de Caroli. Os cistos de colédoco de tamanho gigante são muito raros. OBJETIVO: Relatar o caso de um cisto de colédoco de tamanho gigante em uma paciente feminina. RELATO DE CASO: Mulher de 19 anos foi admitida com história de icterícia e acolia fecal há sete dias. Referia dor epigástrica associada com ingestão de dieta rica em gordura. Nos antecedentes pessoais relatou dois episódios de icterícia, aos 8 e 14 anos, que progrediram espontaneamente. No exame físico apresentava icterícia (+3/+4 e uma massa palpável indolor em mesogástrio foram os únicos achados. A ultrassonografia demonstrou grande formação cística de paredes finas adjacente ao hepatocolédoco, pâncreas e rim direito que media 18,5 x 10,2 cm. A colangioressonância confirmou o grande cisto de colédoco e hepatojejunoanastomose em "Y" de Roux após excisão do cisto e colecistectomia foi realizada. A formação cística media 20 x 15,5 x 12,5 cm e com um volume médio de 1000 mL. A paciente encontra-se em acompanhamento ambulatorial sem alterações hepatobiliares após o sétimo mês da operação. CONCLUSÃO: O cisto de colédoco deve fazer parte do diagnóstico diferencial em pacientes adultos jovens com icterícia e massa palpável; no entanto, a diferenciação entre ele e neoplasia maligna deve ser pesquisada.BACKGROUND: Choledochal cyst represents a rare congenital anomaly, eventually associated with intra and extrahepatic biliary tract disorders. Extrahepatic diseases include choledochal cysts and congenital dilation of the lower intrahepatic bile duct is known as Caroli's disease. Giant choledochal cyst constitutes a very rare abnormality. AIM:To report a giant choledochal cyst in a female patient. CASE REPORT: A 19-year

  14. 12 CFR 4.4 - Washington office.

    Science.gov (United States)

    2010-01-01

    ... 12 Banks and Banking 1 2010-01-01 2010-01-01 false Washington office. 4.4 Section 4.4 Banks and... EXAMINERS Organization and Functions § 4.4 Washington office. The Washington office of the OCC is the main office and headquarters of the OCC. The Washington office directs OCC policy, oversees OCC...

  15. 红花水煎液内服对硬皮小鼠皮肤COL-Ⅰ、COL-Ⅲ表达的影响

    Institute of Scientific and Technical Information of China (English)

    杨欢欢; 吕军影; 黄李平; 严煜林; 何雪萍

    2014-01-01

    目的 观察红花对硬皮小鼠皮肤COL-Ⅰ、COL-Ⅲ表达的影响,探讨红花抗皮肤纤维化的作用机制.方法 采用博来霉素诱导建立硬皮小鼠模型,分别采用生理盐水(模型组)、青霉胺、低中高不同剂量红花水煎液内服治疗硬皮小鼠,共28 d.对照组小鼠背部皮下注射磷酸盐缓冲液.HE染色观察皮肤病理改变并测量真皮厚度,免疫组化检测COL-Ⅰ、COL-Ⅲ的含量表达.结果 造模各组硬皮小鼠真皮厚度增厚,纤维增粗、膨大,数量增多,排列紊乱,COL-Ⅰ、COL-Ⅲ的含量表达降低,模型组尤为显著,与对照组比较差异均有统计学意义(P<0.05);与模型组比较,青霉胺和红花水煎液各剂量组药物干预后真皮厚度及COL-Ⅰ、COL-Ⅲ的表达均有不同程度降低,差异显著(P<0.05);与青霉胺组比较,红花水煎液中、高剂量组真皮厚度及COL-Ⅰ、COL-Ⅲ的表达明显降低,差异有统计学意义(P<0.05).结论 红花水煎液内服可降低硬皮小鼠皮肤COL-Ⅰ、COL-Ⅲ的表达,从而改善硬皮小鼠皮肤纤维化程度.

  16. An Energy Efficient MAC Proto col for Linear WSNs

    Institute of Scientific and Technical Information of China (English)

    DAI Guoyong; MIAO Chunyu; YING Kezhen; WANG Kai; CHEN Qingzhang

    2015-01-01

    Wireless sensor networks (WSNs) have been employed as an ideal solution in many applications for data gathering in harsh environment. Energy consumption is a key issue in wireless sensor networks since nodes are often battery operated. Medium access control (MAC) pro-tocol plays an important role in energy efficiency in wire-less sensor networks because nodes’ access to the shared medium is coordinated by the MAC layer. An energy ef-ficient MAC protocol is designed for data gathering in linear wireless sensor networks. In order to enhance the performance, when a source node transmits data to the sink, proper relay nodes are selected for forwarding data according to the energy consumption factor and residual energy balance factor. Some simulation experiments are conducted and the results show that, the proposed proto-col provides better energy efficiency and long lifetime than the existing DMAC protocol.

  17. EuroCirCol kick-off event

    CERN Multimedia

    Hardre, Julie

    2015-01-01

    The EuroCirCol (http://cern.ch/eurocircol) kick-off event at CERN on June 2-4 brought together 62 participants to constitute governance bodies, commit to the project plan and align the organisation, structures and processes of 16 institutions from 10 countries. The goal of the project is to conceive a post-LHC research infrastructure around a 100 km circular energy-frontier hadron collider capable of reaching 100 TeV collisions. The project officially started on June 1 and will run for four years. The total estimated budget of 11.2 million Euros includes a 2.99 million Euro contribution from the Horizon 2020 programme on developing new world-class research infrastructures (http://cordis.europa.eu/project/rcn/194962_en.html).

  18. Differentiation of Col I and Col III isoforms in stromal models of ovarian cancer by analysis of second harmonic generation polarization and emission directionality.

    Science.gov (United States)

    Tilbury, Karissa; Lien, Chi-Hsiang; Chen, Shean-Jen; Campagnola, Paul J

    2014-01-21

    A profound remodeling of the extracellular matrix occurs in many epithelial cancers. In ovarian cancer, the minor collagen isoform of Col III becomes upregulated in invasive disease. Here we use second harmonic generation (SHG) imaging microscopy to probe structural differences in fibrillar models of the ovarian stroma comprised of mixtures of Col I and III. The SHG intensity and forward-backward ratios decrease with increasing Col III content, consistent with decreased phasematching due to more randomized structures. We further probe the net collagen α-helix pitch angle within the gel mixtures using what is believed to be a new pixel-based polarization-resolved approach that combines and extends previous analyses. The extracted pitch angles are consistent with those of peptide models and the method has sufficient sensitivity to differentiate Col I from the Col I/Col III mixtures. We further developed the pixel-based approach to extract the SHG signal polarization anisotropy from the same polarization-resolved image matrix. Using this approach, we found that increased Col III results in decreased alignment of the dipole moments within the focal volume. Collectively, the SHG measurements and analysis all indicate that incorporation of Col III results in decreased organization across several levels of collagen organization. Furthermore, the findings suggest that the collagen isoforms comingle within the same fibrils, in good agreement with ultrastructural data. The pixel-based polarization analyses (both excitation and emission) afford determination of structural properties without the previous requirement of having well-aligned fibers, and the approaches should be generally applicable in tissue.

  19. COL4A3 expression correlates with pathogenesis, pathologic behaviors, and prognosis of gastric carcinomas.

    Science.gov (United States)

    Nie, Xiao-cui; Wang, Jian-Ping; Zhu, Wan; Xu, Xiao-yan; Xing, Ya-nan; Yu, Miao; Liu, Yun-peng; Takano, Yasuo; Zheng, Hua-chuan

    2013-01-01

    COL4A3 protein belongs to type IV collagen family and is closely linked to kidney diseases and cancer. To clarify the roles of COL4A3 in gastric carcinogenesis and subsequent progression, its expression was examined by immunohistochemistry on tissue microarrays containing gastric carcinomas, adjacent intestinal metaplasia, pure intestinal metaplasia, and gastritis. Gastric carcinoma tissue and cell lines were studied for COL4A3 expression by Western blotting and reverse transcription-polymerase chain reaction. We found that COL4A3 was differentially expressed in GES-1, AGS, BGC-823, GT-3 TKB, HGC-27, KATO-III, MGC-803, MKN28, MKN45, SCH, SGC-7901, and STKM-2 at both messenger RNA and protein levels. Carcinomas showed statistically lower COL4A3 expression than matched nonneoplastic mucosa (P carcinoma (P carcinoma than gastritis (P carcinomas regardless of invasion into the muscularis propria (P carcinomas showed COL4A3 expression. Kaplan-Meier analysis indicated that COL4A3 expression was negatively associated with a favorable prognosis of overall, advanced, and intestinal-type gastric carcinomas (P carcinoma. COL4A3 overexpression might be used as a marker of gastric intestinal metaplasia and mucinous and signet ring cell carcinoma.

  20. Chemically modified tetracycline (COL-3) improves survival if given 12 but not 24 hours after cecal ligation and puncture.

    Science.gov (United States)

    Halter, Jeffrey M; Pavone, Lucio A; Steinberg, Jay M; Gatto, Louis A; DiRocco, Joseph; Landas, Steve; Nieman, Gary F

    2006-12-01

    Sepsis can result in excessive and maladaptive inflammation that is responsible for more than 215,00 deaths per year in the United State alone. Current strategies for reducing the morbidity and mortality associated with sepsis rely on treatment of the syndrome rather than prophylaxis. We have been investigating a modified tetracycline, COL-3, which can be given prophylactically to patients at high risk for developing sepsis. Our group has shown that COL-3 is very effect at preventing the sequelae of sepsis if given before or immediately after injury in both rat and porcine sepsis models. In this study, we wanted to determine the "treatment window" for COL-3 after injury at which it remains protective. Sepsis was induced by cecal ligation and puncture (CLP). Rats were anesthetized and placed into five groups: CLP (n = 20) = CLP without COL-3, sham (n = 5) = surgery without CLP or COL-3, COL3@6h (n = 10) = COL-3 given by gavage 6 h after CLP, COL3@12h (n = 10) = COL-3 given by gavage 12 h after CLP, and COL3@24h (n = 20) = COL-3 given by gavage 24 h after CLP. COL-3 that was given at 6 and 12 h after CLP significantly improved survival as compared with the CLP and the CLP@24h groups. Improved survival was associated with a significant improvement in lung pathology assessed morphologically. These data suggest that COL-3 can be given up to 12 h after trauma and remain effective.

  1. Transcriptional regulation of acetylcholinesterase-associated collagen ColQ in fast- and slow-twitch muscle fibers.

    Science.gov (United States)

    Ting, Annie K L; Siow, Nina L; Kong, L W; Tsim, Karl W K

    2005-12-15

    The presence of a collagenous protein (ColQ) characterizes the collagen-tailed forms of acetylcholinesterase (AChE) and butyrylcholinesterase at vertebrate neuromuscular junctions, which is tethered in the synaptic basal lamina. ColQ subunits, differing mostly by their signal sequences, are encoded by transcripts ColQ-1 and ColQ-1a, which are differentially expressed in slow- and fast-twitch muscles in mammals, respectively. Both ColQ transcripts are derived from a single COLQ gene. Transcripts encoding ColQ increased during myogenic differentiation of C2C12 cells; the increase was in parallel with AChE catalytic subunit. Quantitative PCR analysis indicated that the increase during the myotube formation was due to the up regulation of ColQ-1 transcript instead of ColQ-1a. In order to reveal the regulatory mechanism of ColQ transcripts, two distinct promoters, pColQ-1 and pColQ-1a, were isolated from human COLQ gene. The ColQ promoters showed a muscle fiber type-specific expression pattern, and which was in line with the expression of endogenous transcript. After in vivo DNA transfection, pColQ-1 showed strong activity in slow-twitch muscle (e.g. soleus), while pColQ-1a was preferably expressed in fast-twitch muscle (e.g. tibialis). Mutation analysis of the ColQ promoters suggested that the muscle fiber type-specific expression pattern of ColQ transcripts was regulated by a slow upsteam regulatory element (SURE) and a fast intronic regulatory element (FIRE). These results explain the specific expression patterns of collagen-tailed AChE in slow and fast muscle fibers.

  2. 40 CFR 81.348 - Washington.

    Science.gov (United States)

    2010-07-01

    ... Washington Intrastate Unclassifiable/Attainment Clallam County Grays Harbor County Island County Jefferson... Olympic-Northwest Washington Intrastate: Clallam County Unclassifiable/Attainment. Grays Harbor County.../Attainment Clallam County Grays Harbor County Island County......

  3. Libraries in Washington: MedlinePlus

    Science.gov (United States)

    ... this page: https://medlineplus.gov/libraries/washington.html Libraries in Washington To use the sharing features on ... enable JavaScript. Bellevue Overlake Hospital Medical Center Medical Library 1035 116th Avenue NE Bellevue, WA 98004 425- ...

  4. Teaching the March on Washington

    Science.gov (United States)

    Jones, William P.; Euchner, Charles; Hill, Norman; Hill, Velma Murphy

    2013-01-01

    One of the most historical events in American history, the non-violent protest "March on Washington," August 28, 1963, is detailed in an article of remembrance by William P. Jones. His article is crowned by highlights from the "I Have a Dream" speech by Dr. Martin Luther King, Jr., but also highlights the lessor known role…

  5. Downregulation of Col1a1 induces differentiation in mouse spermatogonia

    Institute of Scientific and Technical Information of China (English)

    Sun-Hong Chen; Ding Li; Chen Xu

    2012-01-01

    Col1a1 (one of the subunit of collagen type Ⅰ) is a collagen,which belongs to a family of extracellular matrix (ECM) proteins that play an important role in cellular proliferation and differentiation.However,the role of Col1a1 in spermatogenesis,especially in the control of proliferation and differentiation of spermatogonial stem cells (SSCs),remains unknown.In this study,we explored effects of downregulation of Col1a1 on differentiation and proliferation of mouse spermatogonia.Loss-of-function study revealed that Oct4 and Plzf,markers of SSC self-renewal,were significantly decreased,whereas the expression of c-kit and haprin,hallmarks of SSC differentiation,was enhanced after Col1a1 knockdown.Cell cycle analyses indicated that two-thirds of spermatogonia were arrested in S phase after Col1a1 knockdown.In vivo experiments,DNA injection and electroporation of the testes showed that spermatogonia self-renewal ability was impaired remarkably with the loss-of-function of Col1a1.Our data suggest that silencing of Col1a1 can suppress spermatogonia self-renewal and promote spermatogonia differentiation.

  6. Wavelength-Dependent Second Harmonic Generation Circular Dichroism for Differentiation of Col I and Col III Isoforms in Stromal Models of Ovarian Cancer Based on Intrinsic Chirality Differences.

    Science.gov (United States)

    Campbell, Kirby R; Campagnola, Paul J

    2017-03-02

    Extensive remodeling of the extracellular matrix (ECM) occurs in many epithelial cancers. For example, in ovarian cancer, upregulation of collagen isoform type III has been linked to invasive forms of the disease, and this change may be a potential biomarker. To examine this possibility, we implemented wavelength-dependent second harmonic generation circular dichroism (SHG-CD) imaging microscopy to quantitatively determine changes in chirality in ECM models comprised of different Col I/Col III composition. In these models, Col III was varied between 0 and 40%, and we found increasing Col III results in reduced net chirality, consistent with structural biology studies of Col I and III in tissues where the isoforms comingle in the same fibrils. We further examined the wavelength dependence of the SHG-CD to both optimize the response and gain insight into the underlying mechanism. We found using shorter SHG excitation wavelengths resulted in increased SHG-CD sensitivity, where this is consistent with the electric-dipole-coupled oscillator model suggested previously for the nonlinear chirality response from thin films. Moreover, the sensitivity is further consistent with the wavelength dependency of SHG intensity fit to a two-state model of the two-photon absorption in collagen. We also provide experimental calibration protocols to implement the SHG-CD modality on a laser scanning microscope. We last suggest that the technique has broad applicability in probing a wide range of diseased states with changes in collagen molecular structure.

  7. Collimation and material science studies (ColMat) at GSI.

    CERN Document Server

    Stadlmann, J; Kollmus, H; Krause, M; Mustafin, E; Petzenhauser, I; Spiller, P; Strasik, I; Tahir, N; Tomut, M; Trautmann, C

    2010-01-01

    Within the frame of the EuCARD program, the GSI Helmholtzzentrum für Schwerionenforschung in Darmstadt is performing accelerator R&D in workpackage 8: ColMat. The coordinated effort is focussed on materials aspects important for building the FAIR accelerator facility at GSI and the LHC upgrade at CERN. Accelerator components and especially protection devices have to be operated in high dose environments. The radiation hazard occurs either by the primary proton and ion beams or the secondary radiation after initial beam loss. Detailed numerical simulations have been carried out to study the damage caused to solid targets by the full impact of the LHC beam as well as the SPS beam. Tungsten, copper and graphite as possible collimator materials have been studied. Experimental an theoretical studies on radiation damage on materials used for the LHC upgrade and the FAIR accelerators are performed at the present GSI experimental facilities. Technical decisions based on these results will have an impact on the F...

  8. 75 FR 20776 - Security Zone; Potomac River, Washington Channel, Washington, DC

    Science.gov (United States)

    2010-04-21

    ..., Washington, DC AGENCY: Coast Guard, DHS. ACTION: Temporary final rule. SUMMARY: The Coast Guard is... Building Ground Floor, Room W12-140, 1200 New Jersey Avenue, SE., Washington, DC 20590, between 9 a.m. and... (NPRM) entitled ``Security Zone; Potomac River, Washington Channel, Washington, DC'' in the...

  9. COL816: Develop specifications for a portable counting seismometer to be implemented routinely in mines underground

    CSIR Research Space (South Africa)

    Lynch, RA

    2002-06-01

    Full Text Available The SIMRAC project COL816 investigated the feasibility of a small, independent device monitoring local seismicity and extracting similar activity information to what can be recorded by a temporary network of seismometers. To do this seismic signals...

  10. “热敷药”对硬皮病小鼠模型COL-Ⅰ、COL-Ⅲ蛋白含量的影响%Effects of Refu Yao on Mice Models with Scleroderma of COL-Ⅰ and COL- Ⅲ

    Institute of Scientific and Technical Information of China (English)

    闫小宁; 韩世荣; 李文彬; 李美红; 刘燕婷

    2011-01-01

    Objective To study the effects of traditional Chinese herbs Refu Yao on mice models with scleroderma of COL-I and COL- M. Methods 60 BALB/C mice models were randomly divided into six groups with ten mice in each group. Mice models with scleroderma were established in mice by repeated local injections of bleomycin for five weeks. Then 10%, 20% and 40% Refu Yao were given to the mice models of high -concentration group, mid -concentration group and low concentration group for one month. Than the pathological change of skin tissue was observed, and the COL-I and COL- DI expression in lesions were detected by immunohistochemical detection. Results Compared with the model group, there was significant improvement in the skin tissue of high-concentration group and mid-concentration group. The content of COL-I and COL- ID was decreased remarkably by Refu Yao, and the difference was significance (PCOL-I and COL- DI, and it can also improve fibrosis in the skin.%目的 观察“热敷药”对硬皮病小鼠模型Ⅰ型胶原、Ⅲ型胶原(COL-Ⅰ、COL-Ⅲ)含量的影响.方法 60只BALB/c小鼠按照随机原则分为空白组、模型组、西药组、小浓度组、中浓度组、大浓度组各10只,采用博莱霉素皮下注射形成硬皮病模型,造模完成后,根据分组分别给予10%、20%、40%“热敷药”药糊及肝素钠软膏外用,1次/d,连续1个月,空白组及模型组不用药.完成后观察各组皮肤组织病理变化,免疫组化检测皮损COL-Ⅰ、COL-Ⅲ蛋白含量.结果 与模型组相比较,高、中浓度组硬皮痛小鼠模型COL-Ⅰ、COL-Ⅲ蛋白含量明显降低,差异较显著(P<0.05);结论 “热敷药”具有改善硬皮病小鼠模型皮肤硬化,降低COL-Ⅰ、COL-Ⅲ的作用.

  11. Genetics Home Reference: COL4A1-related brain small-vessel disease

    Science.gov (United States)

    ... hemorrhage Johns Hopkins Medicine Department of Neurology and Neurosurgery: Intracerebral Hemorrhage Johns Hopkins Medicine Department of Neurology and Neurosurgery: Stroke MalaCards: col4a1-related brain small-vessel disease ...

  12. Tsunami Preparedness in Washington (video)

    Science.gov (United States)

    Loeffler, Kurt; Gesell, Justine

    2010-01-01

    Tsunamis are a constant threat to the coasts of our world. Although tsunamis are infrequent along the West coast of the United States, it is possible and necessary to prepare for potential tsunami hazards to minimize loss of life and property. Community awareness programs are important, as they strive to create an informed society by providing education and training. This video about tsunami preparedness in Washington distinguishes between a local tsunami and a distant event and focus on the specific needs of this region. It offers guidelines for correct tsunami response and community preparedness from local emergency managers, first-responders, and leading experts on tsunami hazards and warnings, who have been working on ways of making the tsunami affected regions safer for the people and communities on a long-term basis. This video was produced by the US Geological Survey (USGS) in cooperation with Washington Emergency Management Division (EMD) and with funding by the National Tsunami Hazard Mitigation Program.

  13. Changes of the MHC - Ⅱ and Col - Ⅰ , Col - Ⅲ in the Healing Process of Acute Skeletal Muscle Injury of Rats%大鼠骨骼肌急性拉伤修复过程中MHC-Ⅱ和COL -Ⅰ、COL -Ⅲ变化的研究

    Institute of Scientific and Technical Information of China (English)

    廖远朋

    2011-01-01

    目的:通过研究大鼠骨骼肌急性拉伤修复过程中MHC -Ⅱ和COL-Ⅰ、COL -Ⅲ的变化,了解拉伤愈合过程中肌纤维再生过程及纤维化过程.方法:将56只SD大鼠分为对照组、即刻组、第1、2、3、4、5周组,造成腓肠肌急性拉伤模型后对各组进行取材并检测MHC -Ⅱ和COL-Ⅰ、COL -Ⅲ.结果:MHC-Ⅱ水平第1周降到最低,第2周开始增加,第3周恢复正常;Col-Ⅰ水平第1周降到最低,随后逐渐增加,在第3周超过正常,持续到第5周;Col-Ⅲ从第1周开始上升,第3周达到峰值,随后逐渐下降.结论:骨骼肌急性拉伤后,骨骼肌的再生过程约在损伤l周后开始,伤后3周达到高峰,并持续5周以上.纤维化过程在损伤后1周以内开始,并持续到5周以后.其中Col-Ⅲ的水平恢复早;Col-Ⅰ的恢复较晚,但在高水平维持时间更长.

  14. Is the COL5A1 rs12722 gene polymorphism associated with running economy?

    Directory of Open Access Journals (Sweden)

    Rômulo Bertuzzi

    Full Text Available The COL5A1 rs12722 polymorphism is considered to be a novel genetic marker for endurance running performance. It has been postulated that COL5A1 rs12722 may influence the elasticity of tendons and the energetic cost of running. To date, there are no experimental data in the literature supporting the relationship between range of motion, running economy, and the COL5A1 rs12722 gene polymorphism. Therefore, the main purpose of the current study was to analyze the influence of the COL5A1rs12722 polymorphism on running economy and range of motion. One hundred and fifty (n = 150 physically active young men performed the following tests: a a maximal incremental treadmill test, b two constant-speed running tests (10 km · h(-1 and 12 km · h(-1 to determine the running economy, and c a sit-and-reach test to determine the range of motion. All of the subjects were genotyped for the COL5A1 rs12722 single-nucleotide polymorphism. The genotype frequencies were TT = 27.9%, CT = 55.8%, and CC = 16.3%. There were no significant differences between COL5A1 genotypes for running economy measured at 10 km · h(-1 (p = 0.232 and 12 km · h(-1 (p = 0.259. Similarly, there were no significant differences between COL5A1 genotypes for range of motion (p = 0.337. These findings suggest that the previous relationship reported between COL5A1 rs12722 genotypes and running endurance performance might not be mediated by the energetic cost of running.

  15. Aquatic habitat guidelines in Washington

    OpenAIRE

    2001-01-01

    Originating as the Stream Corridor Management Workgroup early in 1997, the first major milepost in seeking a statewide-integrated approach to working in and near streams, lakes, and wetlands was a Stream Corridor Management Symposium, held in Ellensburg in June 1998. Major partners in this effort were the Washington Departments of Transportation, Ecology, and Fish and Wildlife. The three-day symposium was structured with three areas of emphasis: • The first section presented the fund...

  16. COL11A1 in FAP polyps and in sporadic colorectal tumors

    Directory of Open Access Journals (Sweden)

    Iselius Lennart

    2001-10-01

    Full Text Available Abstract Background We previously reported that the α-1 chain of type 11 collagen (COL11A1, not normally expressed in the colon, was up-regulated in stromal fibroblasts in most sporadic colorectal carcinomas. Patients with germline mutations in the APC gene show, besides colonic polyposis, symptoms of stromal fibroblast involvement, which could be related to COL11A1 expression. Most colorectal carcinomas are suggested to be a result of an activated Wnt- pathway, most often involving an inactivation of the APC gene or activation of β-catenin. Methods We used normal and polyp tissue samples from one FAP patient and a set of 37 sporadic colorectal carcinomas to find out if the up-regulation of COL11A1 was associated with an active APC/β-catenin pathway. Results In this study we found a statistically significant difference in COL11A1 expression between normal tissue and adenomas from one FAP patient, and all adenomas gave evidence for an active APC/β-catenin pathway. An active Wnt pathway has been suggested to involve stromal expression of WISP-1. We found a strong correlation between WISP-1 and COL11A1 expression in sporadic carcinomas. Conclusions Our results suggest that expression of COL11A1 in colorectal tumors could be associated with the APC/β-catenin pathway in FAP and sporadic colorectal cancer.

  17. COMP and Col9A3 mutations and their relationship to the pseudoachondroplasia phenotype.

    Science.gov (United States)

    Jung, Woon-Won; Balce, Gracia Cielo; Cho, Jae-Woo; Jung, Sung-Chul; Hong, Suk-Joo; Song, Hae-Ryong

    2010-12-01

    While pseudoachondroplasia (PSACH) is almost exclusively caused by cartilage oligomeric matrix protein (COMP) mutations, many patients identified with the PSACH phenotype do not have this mutation, suggesting gene and locus heterogeneity. In order to further characterize this entity, we studied 32 clinically and radiographically diagnosed PSACH patients, among 19 families. COMP and collagen (Col) IX (A1, A2 and A3) mutations, were determined. Patients who tested negative for pathological gene mutations but who were identified with the PSACH phenotype, were included. The phenotypes were characterized according to height deviation (cm) from normal, lower extremity mechanical axis deviation (MAD), cervical and thoracolumbar spine involvement, pelvic index, as well as hip, knee, ankle and hand involvement. We report an 81% mutation detection rate for PSACH, of which COMP+Col9A3 mutations were more prevalent (61%) than COMP mutations alone (30%). Of our PSACH patients, 19% tested negative for both COMP and Col9A3 mutations, and they presented with the greatest mean height deviations, but the least mean MADs. While all the PSACH mutations consistently produced the severe phenotype, the V426A mutation in Col9A3 produced the most severe. Mother-daughter and father-son phenotypic similarities were noted in the COMP+Col9A3 families. Col9A3 and gender play confounding roles in the phenotypic severity of PSACH. The presence of the PSACH phenotype in patients who tested negative for known mutations further confirms the genetic heterogeneity of this condition.

  18. Genetic polymorphisms in COL18A1 influence the development of osteosarcoma.

    Science.gov (United States)

    Guo, Zhihao; Zhang, Tianji; Wu, Juntao; Wang, Hongwei; Liu, Xiaotan; Tian, Linqiang

    2015-01-01

    We conducted a case-control study to investigate the association of COL18A1 D104N polymorphism in the development of osteosarcoma in a Chinese population. Between May 2012 and May 2014, 141 patients with pathologically proven osteosarcoma and 341 were selected into this study. Genotyping of COL18A1 D104N was analyzed using polymerase chain reaction (PCR) coupled with restriction fragment length polymorphism (RFLP). By logistic regression analysis, we found that individuals with the NN genotype of COL18A1 D104N were significantly associated with an increased risk of osteosarcoma when compared with the DD genotype (OR=20.97, 95% CI=2.74-933.42). In dominant model, the NN+DN genotype of COL18A1 D104N had a 1.99 fold risk of osteosarcoma when compared with the DD genotype. Moreover, the NN genotype was correlated with a 20.45 fold risk of osteosarcoma when compared with the DN+DD genotype in recessive model. However, we did not find significant interaction between COL18A1 D104N polymorphism and Enneking stage, histological subtype, tumor metastasis and tumor location of patients with osteosarcoma. In conclusion, our study suggests that the homozygous DN and NN genotypes of COL18A1 D104N were associated with the risk of osteosarcoma.

  19. A Novel COL4A5 Mutation Identified in a Chinese Han Family Using Exome Sequencing

    Directory of Open Access Journals (Sweden)

    Xiaofei Xiu

    2014-01-01

    Full Text Available Alport syndrome (AS is a monogenic disease of the basement membrane (BM, resulting in progressive renal failure due to glomerulonephropathy, variable sensorineural hearing loss, and ocular anomalies. It is caused by mutations in the collagen type IV alpha-3 gene (COL4A3, the collagen type IV alpha-4 gene (COL4A4, and the collagen type IV alpha-5 gene (COL4A5, which encodes type IV collagen α3, α4, and α5 chains, respectively. To explore the disease-related gene in a four-generation Chinese Han pedigree of AS, exome sequencing was conducted on the proband, and a novel deletion mutation c.499delC (p.Pro167Glnfs*36 in the COL4A5 gene was identified. This mutation, absent in 1,000 genomes project, HapMap, dbSNP132, YH1 databases, and 100 normal controls, cosegregated with patients in the family. Neither sensorineural hearing loss nor typical COL4A5-related ocular abnormalities (dot-and-fleck retinopathy, anterior lenticonus, and the rare posterior polymorphous corneal dystrophy were present in patients of this family. The phenotypes of patients in this AS family were characterized by early onset-age and rapidly developing into end-stage renal disease (ESRD. Our discovery broadens the mutation spectrum in the COL4A5 gene associated with AS, which may also shed new light on genetic counseling for AS.

  20. Numerical simulation on the formation of mesoscale vortex in col field

    Science.gov (United States)

    Jiang, Yongqiang; Wang, Yuan

    2012-02-01

    There exist typically two kinds of low-level col fields over the middle and lower reaches of the Yangtze River of China during summer. One is associated with the mesoscale vortex embedded in the Meiyu front; the other is related to tropical cyclones making landfall over eastern or southern China. The first one is the focus of this study. The meso- β scale vortex (M βV) causing heavy rainfall usually forms in a col field or within a shear line associated with the mesoscale low-level jet (mLLJ). The M βV, triggered by mesoscale wind perturbation in a col field, is simulated by using a three-dimensional η-coordinate mesoscale model. This col field represents the circumstance of the "98.7" heavy rainfall event over eastern Hubei Province. The results show that the M βV triggered by wind perturbation was weak and maintained only several hours if the latent heat feedback was switched off. The wind perturbation also weakened rapidly. However, when the latent heat feedback was included, precipitation became more intense and the mLLJ and M βV quickly developed. The M βV maintained quasi-stationary during its life cycle under the stable col field. The M βV triggered by the southwesterly perturbation was located closely to that by the northeasterly perturbation. They were both located in the weak wind region near the col point. The stronger the perturbation was, the more intense and longer the dynamic M βV lived. The 24-h accumulated precipitation in different experiments showed a similar pattern, which indicates that the relatively stable intensity and range of precipitation were the intrinsic characters of the stable col field. Furthermore, it is found that mesoscale perturbations had some impacts on the location and intensity of the rainfall. The fluctuation of large-scale LLJ to the south of the col field might produce a perturbation, causing instable stratification and rainfall within the low-level col field or shear line. The mLLJ near the rainfall was enhanced

  1. Scoliosis in osteogenesis imperfecta caused by COL1A1/COL1A2 mutations - genotype-phenotype correlations and effect of bisphosphonate treatment.

    Science.gov (United States)

    Sato, Atsuko; Ouellet, Jean; Muneta, Takeshi; Glorieux, Francis H; Rauch, Frank

    2016-05-01

    Bisphosphonates are widely used to treat children with osteogenesis imperfecta (OI), a bone fragility disorder that is most often caused by mutations in COL1A1 or COL1A2. However, it is unclear whether this treatment decreases the risk of developing scoliosis. We retrospectively evaluated spine radiographs and charts of 437 patients (227 female) with OI caused by mutations in COL1A1 or COL1A2 and compared the relationship between scoliosis, genotype and bisphosphonate treatment history. At the last follow-up (mean age 11.9 [SD: 5.9] years), 242 (55%) patients had scoliosis. The prevalence of scoliosis was highest in OI type III (89%), followed by OI type IV (61%) and OI type I (36%). Moderate to severe scoliosis (Cobb angle ≥25°) was rare in individuals with COL1A1 haploinsufficiency mutations but was present in about two fifth of patients with triple helical glycine substitutions or C-propeptide mutations. During the first 2 to 4years of bisphosphonate therapy, patients with OI type III had lower Cobb angle progression rates than before bisphosphonate treatment, whereas in OI types I and IV bisphosphonate treatment was not associated with a change in Cobb angle progression rates. At skeletal maturity, the prevalence of scoliosis (Cobb angle >10°) was similar in patients who had started bisphosphonate treatment early in life (before 5.0years of age) and in patients who had started therapy later (after the age of 10.0years) or had never received bisphosphonate therapy. Bisphosphonate treatment decreased progression rate of scoliosis in OI type III but there was no evidence of a positive effect on scoliosis in OI types I and IV. The prevalence of scoliosis at maturity was not influenced by the bisphosphonate treatment history in any OI type.

  2. Mutations in COL1A1 and COL1A2 and dental aberrations in children and adolescents with osteogenesis imperfecta – A retrospective cohort study

    Science.gov (United States)

    Dahllöf, Göran; Lindahl, Katarina; Kindmark, Andreas; Grigelioniene, Giedre; Åström, Eva; Malmgren, Barbro

    2017-01-01

    Osteogenesis imperfecta (OI) is a heterogeneous group of disorders of connective tissue, caused mainly by mutations in the collagen I genes (COL1A1 and COL1A2). Dentinogenesis imperfecta (DGI) and other dental aberrations are common features of OI. We investigated the association between collagen I mutations and DGI, taurodontism, and retention of permanent second molars in a retrospective cohort of 152 unrelated children and adolescents with OI. The clinical examination included radiographic evaluations. Teeth from 81 individuals were available for histopathological evaluation. COL1A1/2 mutations were found in 104 individuals by nucleotide sequencing. DGI was diagnosed clinically and radiographically in 29% of the individuals (44/152) and through isolated histological findings in another 19% (29/152). In the individuals with a COL1A1 mutation, 70% (7/10) of those with a glycine substitution located C-terminal of p.Gly305 exhibited DGI in both dentitions while no individual (0/7) with a mutation N-terminal of this point exhibited DGI in either dentition (p = 0.01). In the individuals with a COL1A2 mutation, 80% (8/10) of those with a glycine substitution located C terminal of p.Gly211 exhibited DGI in both dentitions while no individual (0/5) with a mutation N-terminal of this point (p = 0.007) exhibited DGI in either dentition. DGI was restricted to the deciduous dentition in 20 individuals. Seventeen had missense mutations where glycine to serine was the most prevalent substitution (53%). Taurodontism occurred in 18% and retention of permanent second molars in 31% of the adolescents. Dental aberrations are strongly associated with qualitatively changed collagen I. The varying expressivity of DGI is related to the location of the collagen I mutation. Genotype information may be helpful in identifying individuals with OI who have an increased risk of dental aberrations. PMID:28498836

  3. Mutations in COL1A1 and COL1A2 and dental aberrations in children and adolescents with osteogenesis imperfecta - A retrospective cohort study.

    Science.gov (United States)

    Andersson, Kristofer; Dahllöf, Göran; Lindahl, Katarina; Kindmark, Andreas; Grigelioniene, Giedre; Åström, Eva; Malmgren, Barbro

    2017-01-01

    Osteogenesis imperfecta (OI) is a heterogeneous group of disorders of connective tissue, caused mainly by mutations in the collagen I genes (COL1A1 and COL1A2). Dentinogenesis imperfecta (DGI) and other dental aberrations are common features of OI. We investigated the association between collagen I mutations and DGI, taurodontism, and retention of permanent second molars in a retrospective cohort of 152 unrelated children and adolescents with OI. The clinical examination included radiographic evaluations. Teeth from 81 individuals were available for histopathological evaluation. COL1A1/2 mutations were found in 104 individuals by nucleotide sequencing. DGI was diagnosed clinically and radiographically in 29% of the individuals (44/152) and through isolated histological findings in another 19% (29/152). In the individuals with a COL1A1 mutation, 70% (7/10) of those with a glycine substitution located C-terminal of p.Gly305 exhibited DGI in both dentitions while no individual (0/7) with a mutation N-terminal of this point exhibited DGI in either dentition (p = 0.01). In the individuals with a COL1A2 mutation, 80% (8/10) of those with a glycine substitution located C terminal of p.Gly211 exhibited DGI in both dentitions while no individual (0/5) with a mutation N-terminal of this point (p = 0.007) exhibited DGI in either dentition. DGI was restricted to the deciduous dentition in 20 individuals. Seventeen had missense mutations where glycine to serine was the most prevalent substitution (53%). Taurodontism occurred in 18% and retention of permanent second molars in 31% of the adolescents. Dental aberrations are strongly associated with qualitatively changed collagen I. The varying expressivity of DGI is related to the location of the collagen I mutation. Genotype information may be helpful in identifying individuals with OI who have an increased risk of dental aberrations.

  4. ColVI myopathies: where do we stand, where do we go?

    Directory of Open Access Journals (Sweden)

    Allamand Valérie

    2011-09-01

    Full Text Available Abstract Collagen VI myopathies, caused by mutations in the genes encoding collagen type VI (ColVI, represent a clinical continuum with Ullrich congenital muscular dystrophy (UCMD and Bethlem myopathy (BM at each end of the spectrum, and less well-defined intermediate phenotypes in between. ColVI myopathies also share common features with other disorders associated with prominent muscle contractures, making differential diagnosis difficult. This group of disorders, under-recognized for a long time, has aroused much interest over the past decade, with important advances made in understanding its molecular pathogenesis. Indeed, numerous mutations have now been reported in the COL6A1, COL6A2 and COL6A3 genes, a large proportion of which are de novo and exert dominant-negative effects. Genotype-phenotype correlations have also started to emerge, which reflect the various pathogenic mechanisms at play in these disorders: dominant de novo exon splicing that enables the synthesis and secretion of mutant tetramers and homozygous nonsense mutations that lead to premature termination of translation and complete loss of function are associated with early-onset, severe phenotypes. In this review, we present the current state of diagnosis and research in the field of ColVI myopathies. The past decade has provided significant advances, with the identification of altered cellular functions in animal models of ColVI myopathies and in patient samples. In particular, mitochondrial dysfunction and a defect in the autophagic clearance system of skeletal muscle have recently been reported, thereby opening potential therapeutic avenues.

  5. Two different forms of lethal chondrodysplasias caused by COL2A1 gene mutations

    Energy Technology Data Exchange (ETDEWEB)

    Winterpacht, A.; Hilbert, K.; Schwarze, U. [Univ. of Mainz (Germany)] [and others

    1994-09-01

    Two bone dysplasia families seem to be due to mutations in the type II procollagen gene (COL2A1): the so-called spondyloepiphyseal dysplasia congenita (SEDC) group with achondrogenesis II, hypochondrogenesis, SEDC, osteoarthrosis and the Stickler-Kniest pattern that include different forms of Kniest and Stickler dysplasia. Both groups comprise a clinical spectrum ranging from lethal to mild. COL2A1-mutations have been identified in lethal forms of the SEDC family but not in lethal forms of the Stickler/Kniest group. We now report a COL2A-1 mutation in an additional case of hypochondrogenesis (patient S) and in a lethal case of Kniest dysplasia (patient B). We amplified all 54 exons of the COL2A1 gene in both patients and screened the PCR products for mutations by SSCP analysis and sequencing. In patient B, we identified an 18 bp deletion in exon 34 which removes 6 amino acids from the mature protein. In patient S, we were able to identify a two base pair exchange (GG to AT) in exon 31, which leads to the very unusual conversion of Gly to Ile. To our knowledge, this is the first report of a Gly to Ile conversion in the COL2A1 gene, and the first report of a COL2A1 gene mutation in a lethal form of Kniest dysplasia. On the basis of the known COL2A1 gene mutations and the genotype-phenotype correlations established so far, we provide molecular data (an in frame deletion in patient B and a Gly conversion in patient S) that support their clinical classification as Kniest dysplasia and hypochondrogenesis, respectively.

  6. Washington: a guide to geothermal energy development

    Energy Technology Data Exchange (ETDEWEB)

    Bloomquist, R.G.; Basescu, N.; Higbee, C.; Justus, D.; Simpson, S.

    1980-06-01

    Washington's geothermal potential is discussed. The following topics are covered: exploration, drilling, utilization, legal and institutional setting, and economic factors of direct use projects. (MHR)

  7. Position of glycine substitutions in the triple helix of COL6A1, COL6A2, and COL6A3 is correlated with severity and mode of inheritance in collagen VI myopathies.

    Science.gov (United States)

    Butterfield, Russell J; Foley, A Reghan; Dastgir, Jahannaz; Asman, Stephanie; Dunn, Diane M; Zou, Yaqun; Hu, Ying; Donkervoort, Sandra; Flanigan, Kevin M; Swoboda, Kathryn J; Winder, Thomas L; Weiss, Robert B; Bönnemann, Carsten G

    2013-11-01

    Glycine substitutions in the conserved Gly-X-Y motif in the triple helical (TH) domain of collagen VI are the most commonly identified mutations in the collagen VI myopathies including Ullrich congenital muscular dystrophy, Bethlem myopathy, and intermediate (INT) phenotypes. We describe clinical and genetic characteristics of 97 individuals with glycine substitutions in the TH domain of COL6A1, COL6A2, or COL6A3 and add a review of 97 published cases, for a total of 194 cases. Clinical findings include severe, INT, and mild phenotypes even from patients with identical mutations. INT phenotypes were most common, accounting for almost half of patients, emphasizing the importance of INT phenotypes to the overall phenotypic spectrum. Glycine substitutions in the TH domain are heavily clustered in a short segment N-terminal to the 17th Gly-X-Y triplet, where they are acting as dominants. The most severe cases are clustered in an even smaller region including Gly-X-Y triplets 10-15, accounting for only 5% of the TH domain. Our findings suggest that clustering of glycine substitutions in the N-terminal region of collagen VI is not based on features of the primary sequence. We hypothesize that this region may represent a functional domain within the triple helix.

  8. Análises dos efeitos do colágeno bovino e derivados na proliferação celular e biossíntese de colágeno em fibroblastos humanos.

    OpenAIRE

    Vergimari Rodrigues

    2009-01-01

    O colágeno é a proteína fibrosa predominante da matriz extracelular e é a maior proteína constituinte do tecido conectivo. Alterações nas taxas de colágeno tipo I na derme ocorrem durante o envelhecimento. A introdução de um agente eficaz para a manutenção da pele durante o envelhecimento é importante, possibilitando a redução destes efeitos. Neste projeto foram avaliados os efeitos proliferativos e de biossíntese de colágeno, em fibroblastos humanos de derme normal tratados com colágeno bovi...

  9. Association of COL1A1 polymorphism with high myopia: a Meta-analysis

    Directory of Open Access Journals (Sweden)

    Guang-Ming Jin

    2016-04-01

    Full Text Available AIM: To investigate the association between collagen type I alpha 1 (COL1A1 gene and high myopia. METHODS: In this Meta-analysis, we examined 5 published case-control studies that involved 1942 high myopia cases and 2929 healthy controls to assess the association between the COL1A1 rs2075555 polymorphism and high myopia risk. We calculated the pooled odds ratios (ORs of COL1A1 rs2075555 polymorphism in high myopia cases vs healthy controls to evaluate the strength of the association. RESULTS: Overall, there was no significant difference both in the genotype and allele distributions of COL1A1 rs2075555 polymorphism between high myopia cases and healthy controls: CC vs AA OR=1.10, 95% confidence interval (CI=0.76-1.58; AC vs AA OR=0.98, 95%CI 0.80-1.20; CC/AC vs AA/OR=1.01, 95%CI 0.84-1.22; CC vs AC/AA OR=1.06, 95%CI=0.93-1.20; C vs A OR=1.06, 95%CI 0.91-1.23. In addition, in the stratified analyses by ethnicity, no significant associations were found in any genetic model both in European and Asia cohorts. CONCLUSION: Our results indicate that the COL1A1 rs2075555 polymorphism may not affect susceptibility to high myopia.

  10. Case of Small Vessel Disease Associated with COL4A1 Mutations following Trauma

    Directory of Open Access Journals (Sweden)

    Joao McONeil Plancher

    2015-06-01

    Full Text Available With this case report, we would like to heighten the awareness of clinicians about COL4A1 as a single-gene disorder causing cerebral small vessel disease and describe a previously unreported pathogenic missense substitution in COL4A1 (p.Gly990Val and a new clinical presentation. We identified a heterozygous putatively pathogenic mutation of COL4A1 in a 50-year-old female with a history of congenital cataracts and glaucoma who presented with multiple diffusion-positive infarcts and areas of contrast enhancement following mild head trauma. We believe that this presentation of multiple areas of acute brain and vascular injury in the setting of mild head trauma is a new manifestation of this genetic disorder. Imaging findings of multiple acute infarcts and regions of contrast enhancement with associated asymptomatic old deep microhemorrhages and leukomalacia in adults after head trauma should raise a high suspicion for a COL4A1 genetic disorder. Radiographic patterns of significant leukoaraiosis and deep microhemorrhages can also be seen in patients with long-standing vasculopathy associated with hypertension, which our patient lacked. Our findings demonstrate the utility of genetic screening for COL4A1 mutations in young patients who have small vessel vasculopathy on brain imaging but who do not have significant cardiovascular risk factors.

  11. COL Application Content Guide for HTGRs: Revision to RG 1.206, Part 1 - Status Report

    Energy Technology Data Exchange (ETDEWEB)

    Wayne Moe

    2012-08-01

    A combined license (COL) application is required by the Nuclear Regulatory Commission (NRC) for all proposed nuclear plants. The information requirements for a COL application are set forth in 10 CFR 52.79, “Contents of Applications; Technical Information in Final Safety Analysis Report.” An applicant for a modular high temperature gas-cooled reactor (HTGR) must develop and submit for NRC review and approval a COL application which conforms to these requirements. The technical information necessary to allow NRC staff to evaluate a COL application and resolve all safety issues related to a proposed nuclear plant is detailed and comprehensive. To this, Regulatory Guide (RG) 1.206, “Combined License Applications for Nuclear Power Plants” (LWR Edition), was developed to assist light water reactor (LWR) applicants in incorporating and effectively formatting required information for COL application review (Ref. 1). However, the guidance prescribed in RG 1.206 presumes a LWR design proposal consistent with the systems and functions associated with large LWR power plants currently operating under NRC license.

  12. A COL11A2 mutation in Labrador retrievers with mild disproportionate dwarfism.

    Directory of Open Access Journals (Sweden)

    Mirjam Frischknecht

    Full Text Available We describe a mild form of disproportionate dwarfism in Labrador Retrievers, which is not associated with any obvious health problems such as secondary arthrosis. We designate this phenotype as skeletal dysplasia 2 (SD2. It is inherited as a monogenic autosomal recessive trait with incomplete penetrance primarily in working lines of the Labrador Retriever breed. Using 23 cases and 37 controls we mapped the causative mutation by genome-wide association and homozygosity mapping to a 4.44 Mb interval on chromosome 12. We re-sequenced the genome of one affected dog at 30x coverage and detected 92 non-synonymous variants in the critical interval. Only two of these variants, located in the lymphotoxin A (LTA and collagen alpha-2(XI chain gene (COL11A2, respectively, were perfectly associated with the trait. Previously described COL11A2 variants in humans or mice lead to skeletal dysplasias and/or deafness. The dog variant associated with disproportionate dwarfism, COL11A2:c.143G>C or p.R48P, probably has only a minor effect on collagen XI function, which might explain the comparatively mild phenotype seen in our study. The identification of this candidate causative mutation thus widens the known phenotypic spectrum of COL11A2 mutations. We speculate that non-pathogenic COL11A2 variants might even contribute to the heritable variation in height.

  13. A COL11A2 mutation in Labrador retrievers with mild disproportionate dwarfism.

    Science.gov (United States)

    Frischknecht, Mirjam; Niehof-Oellers, Helena; Jagannathan, Vidhya; Owczarek-Lipska, Marta; Drögemüller, Cord; Dietschi, Elisabeth; Dolf, Gaudenz; Tellhelm, Bernd; Lang, Johann; Tiira, Katriina; Lohi, Hannes; Leeb, Tosso

    2013-01-01

    We describe a mild form of disproportionate dwarfism in Labrador Retrievers, which is not associated with any obvious health problems such as secondary arthrosis. We designate this phenotype as skeletal dysplasia 2 (SD2). It is inherited as a monogenic autosomal recessive trait with incomplete penetrance primarily in working lines of the Labrador Retriever breed. Using 23 cases and 37 controls we mapped the causative mutation by genome-wide association and homozygosity mapping to a 4.44 Mb interval on chromosome 12. We re-sequenced the genome of one affected dog at 30x coverage and detected 92 non-synonymous variants in the critical interval. Only two of these variants, located in the lymphotoxin A (LTA) and collagen alpha-2(XI) chain gene (COL11A2), respectively, were perfectly associated with the trait. Previously described COL11A2 variants in humans or mice lead to skeletal dysplasias and/or deafness. The dog variant associated with disproportionate dwarfism, COL11A2:c.143G>C or p.R48P, probably has only a minor effect on collagen XI function, which might explain the comparatively mild phenotype seen in our study. The identification of this candidate causative mutation thus widens the known phenotypic spectrum of COL11A2 mutations. We speculate that non-pathogenic COL11A2 variants might even contribute to the heritable variation in height.

  14. Immunological characterization of recombinantWuchereria bancrofti cuticular collagen (COL-4) as putative vaccine candidate for human lymphatic filariasis

    Institute of Scientific and Technical Information of China (English)

    Chakkaravarthy Arunkumar; Pandurangan Pandiaraja; P. R. Prince; Perumal Kaliraj

    2014-01-01

    Objective:To elucidate immunoprophylactic potential of recombinantWuchereria bancrofti(W. bancrofti) cuticular collagen(COL-4) inBALB/c mice and filarial clinical samples.Methods:col-4 gene wasPCR amplified fromW. bancroftiL3 cDNA library and cloned in pRSETB vector. RecombinantCOL-4 was over expressed in salt inducible system and was purified by nickel affinity chromatography.Humoral and cellular responses were measured byELISA and peripheral blood mononuclear cells(PBMC) of various filarial clinical samples respectively using purified recombinantCOL-4 antigen.Then the protective immune responses ofCOL-4 immunizedBALB/c mice were characterized.Results:Sequence analysis ofCOL-4 with human host proteins reveals lack of homology.The recombinantCOL-4 was found to be at15 kDa fusion protein.The affinity purifiedCOL-4 showed significant reactivity with putatively immune sera and in a similar fashion it demonstrated marked proliferation inPBMC samples.Immunization studies in experimental filarial host(mice) elicited significant titers with protective antibody isotype profile(IgM and IgG).Cellular immune responses were also significant in terms of splenocytes proliferation assay on mice samples.Conclusions:Our immunological findings in experimental host suggestTh2 mediated immune response.Hence, we propose thatW. bancroftiCOL-4 could be an efficacious vaccine candidate against lymphatic filariasis.

  15. A 6.4 hr positive superhump period in TV Col

    CERN Document Server

    Retter, A

    1999-01-01

    Re-examination of photometric data of TV Col (Hellier, 1993) reveals positive superhumps in addition to the negative superhumps previously known. The superhump period is 0.265+/-0.005 day - about 16 percent longer than the orbital period - which obeys the relation between superhump-period excess and orbital period (Stolz and Schoembs 1984). As a confirmed permanent superhumper, the accretion disc of TV Col is naturally thermally stable. Therefore, our result supports the idea of Hellier and Buckley (1993) that the short-term outbursts seen in its light curve are mass transfer events rather than thermal instabilities in the disc. At 5.5-hr, TV Col has a longer orbital period than any known superhumper, and thus a mass ratio which is probably outside the range at which superhumps can occur according to current theory.

  16. A novel COL11A1 missense mutation in siblings with non-ocular Stickler syndrome.

    Science.gov (United States)

    Kohmoto, Tomohiro; Tsuji, Atsumi; Morita, Kei-Ichi; Naruto, Takuya; Masuda, Kiyoshi; Kashimada, Kenichi; Enomoto, Keisuke; Morio, Tomohiro; Harada, Hiroyuki; Imoto, Issei

    2016-01-01

    Stickler syndrome (STL) is an autosomal, dominantly inherited, clinically variable and genetically heterogeneous connective tissue disorder characterized by ocular, auditory, orofacial and skeletal abnormalities. We conducted targeted resequencing using a next-generation sequencer for molecular diagnosis of a 2-year-old girl who was clinically suspected of having STL with Pierre Robin sequence. We detected a novel heterozygous missense mutation, NM_001854.3:n.4838G>A [NM_001854.3 (COL11A1_v001):c.4520G>A], in COL11A1, resulting in a Gly to Asp substitution at position 1507 [NM_001854.3(COL11A1_i001)] within one of the collagen-like domains of the triple helical region. The same mutation was detected in her 4-year-old brother with cleft palate and high-frequency sensorineural hearing loss.

  17. 77 FR 15179 - Disaster Declaration for Washington

    Science.gov (United States)

    2012-03-14

    ... Counties: Clallam, Grays Harbor, King, Klickitat, Lewis, Mason, Pierce, Skamania, Snohomish, Thurston... ADMINISTRATION [Disaster Declaration 13027 and 13028; Washington Disaster WA-00036] Disaster Declaration for Washington AGENCY: U.S. Small Business Administration. ] ACTION: Notice. SUMMARY: This is a Notice of...

  18. Aerospace Training. Washington's Community and Technical Colleges

    Science.gov (United States)

    Washington State Board for Community and Technical Colleges, 2014

    2014-01-01

    Aerospace is an economic powerhouse that generates jobs and fuels our economy. Washington's community and technical colleges produce the world-class employees needed to keep it that way. With about 1,250 aerospace-related firms employing more than 94,000 workers, Washington has the largest concentration of aerospace expertise in the nation. To…

  19. 75 FR 52048 - Washington Disaster #WA-00027

    Science.gov (United States)

    2010-08-24

    ... ADMINISTRATION Washington Disaster WA-00027 AGENCY: U.S. Small Business Administration. ACTION: Notice. SUMMARY: This is a notice of an Administrative declaration of a disaster for the State of WASHINGTON dated 08/17/2010. Incident: Lynnview Apartment Complex Fire. Incident Period: 08/09/2010. Effective Date:...

  20. HANAC Syndrome Col4a1 Mutation Causes Neonate Glomerular Hyperpermeability and Adult Glomerulocystic Kidney Disease.

    Science.gov (United States)

    Chen, Zhiyong; Migeon, Tiffany; Verpont, Marie-Christine; Zaidan, Mohamad; Sado, Yoshikazu; Kerjaschki, Dontscho; Ronco, Pierre; Plaisier, Emmanuelle

    2016-04-01

    Hereditary angiopathy, nephropathy, aneurysms, and muscle cramps (HANAC) syndrome is an autosomal dominant syndrome caused by mutations in COL4A1 that encodes the α1 chain of collagen IV, a major component of basement membranes. Patients present with cerebral small vessel disease, retinal tortuosity, muscle cramps, and kidney disease consisting of multiple renal cysts, chronic kidney failure, and sometimes hematuria. Mutations producing HANAC syndrome localize within the integrin binding site containing CB3[IV] fragment of the COL4A1 protein. To investigate the pathophysiology of HANAC syndrome, we generated mice harboring the Col4a1 p.Gly498Val mutation identified in a family with the syndrome. Col4a1 G498V mutation resulted in delayed glomerulogenesis and podocyte differentiation without reduction of nephron number, causing albuminuria and hematuria in newborns. The glomerular defects resolved within the first month, but glomerular cysts developed in 3-month-old mutant mice. Abnormal structure of Bowman's capsule was associated with metalloproteinase induction and activation of the glomerular parietal epithelial cells that abnormally expressed CD44,α-SMA, ILK, and DDR1. Inflammatory infiltrates were observed around glomeruli and arterioles. Homozygous Col4a1 G498V mutant mice additionally showed dysmorphic papillae and urinary concentration defects. These results reveal a developmental role for the α1α1α2 collagen IV molecule in the embryonic glomerular basement membrane, affecting podocyte differentiation. The observed association between molecular alteration of the collagenous network in Bowman's capsule of the mature kidney and activation of parietal epithelial cells, matrix remodeling, and inflammation may account for glomerular cyst development and CKD in patients with COL4A1-related disorders.

  1. COL4A1 Mutations and Cerebral Small Vessel Disease%COL4A1基因突变与脑血管病

    Institute of Scientific and Technical Information of China (English)

    陈宇

    2010-01-01

    Ⅳ型胶原蛋自基因α1(αl type IV collagen,COUA1)编码IV型胶原的αl链,是构成所有组织基底膜的主要成分.COL4A1基因突变可引起脑内小动脉病变,在一定的环境压力下引发脑内小血管的阻塞或破裂,造成脑出血(intracerrbral hemorrhage,ICH).本文综述了COL4A1与α1链的结构,构成Ⅳ型胶原的方式,Ⅳ型胶原在基底膜中的作用以及目前发现的COL4A1突变引发的人类脑血管方面的疾病,并对发病机理进行了简要综述.

  2. Wound healing genes and susceptibility to cutaneous leishmaniasis in Brazil: Role of COL1A1

    OpenAIRE

    Almeida, Lucas; Oliveira, Joyce; Guimarães, Luiz Henrique; Carvalho, Edgar M.; Blackwell, Jenefer M.; Castellucci, Léa

    2015-01-01

    Previous studies have demonstrated a role for wound healing genes in resolution of cutaneous lesions caused by Leishmania spp. in both mice and humans, including the gene FLI1 encoding Friend leukaemia virus integration 1. Reduction of Fli1 expression in mice has been shown to result in up-regulation of collagen type I alpha 1 (Col1a1) and alpha 2 (Col1a2) genes and, conversely, in down-regulation of the matrix metalloproteinase 1 (Mmp1) gene, suggesting that Fli1 suppression is involved in a...

  3. Washington State biomass data book

    Energy Technology Data Exchange (ETDEWEB)

    Deshaye, J.A.; Kerstetter, J.D.

    1991-07-01

    This is the first edition of the Washington State Biomass Databook. It assess sources and approximate costs of biomass fuels, presents a view of current users, identifies potential users in the public and private sectors, and lists prices of competing energy resources. The summary describes key from data from the categories listed above. Part 1, Biomass Supply, presents data increasing levels of detail on agricultural residues, biogas, municipal solid waste, and wood waste. Part 2, Current Industrial and Commercial Use, demonstrates how biomass is successfully being used in existing facilities as an alternative fuel source. Part 3, Potential Demand, describes potential energy-intensive public and private sector facilities. Part 4, Prices of Competing Energy Resources, shows current suppliers of electricity and natural gas and compares utility company rates. 49 refs., 43 figs., 72 tabs.

  4. Entomopathogenic fungi in predatory beetles (Col: Carabidae and Staphylinidae) from agricultural fields

    DEFF Research Database (Denmark)

    Steenberg, T; Langer, V; Esbjerg, P

    1995-01-01

    Prevalence of entomopathogenic fungi was studied in overwintering ground beetles (Col.: Carabidae) and rove beetles (Col.: Staphylinidae) collected from fields of lucerne, white cabbage and white cabbage undersown with white clover. In general infection levels in adult ground beetles and rove bee...... (Zygomycetes: Entomophthorales). Two individuals of Anotylus rugosus were found to have a dual infection of Zoophthora philonthi and Beauveria bassiana...

  5. Evidence for large superhumps in TX Col and V4742 Sgr

    CERN Document Server

    Retter, A; Liu, A; Bos, Marc; Liu, Alexander; Retter, Alon

    2004-01-01

    Since the discovery of the largest positive superhump period in TV Col, we have started a program to search for superhumps in CVs with large orbital periods. Here, we summarize preliminary results of TX Col and V4742 Sgr. TX Col is an intermediate polar with a 5.7-h orbital period. V4742 Sgr is a recent nova with no known periods. CCD unfiltered continuous photometry of these 2 objects was carried out during 56 nights in 2002-3. In TX Col, in addition to the orbital period of 5.7 h, we found peaks at 7.1 h and 5.0 h. These are interpreted as positive and negative superhumps correspondingly, although the effects of the quasi-periodic oscillations at about 2 h were not taken into consideration. In the light curve of V4742 Sgr 2 long periods are detected -- 6.1 and 5.4 h as well as a short-term period at 1.6 h. This result suggests that V4742 Sgr is an intermediate polar candidate and a permanent superhump system with a large orbital period (5.4 h) and a superhump period excess of 13 percent. If these results ar...

  6. Stimulation of Escherichia coli F-18Col- Type-1 fimbriae synthesis by leuX

    DEFF Research Database (Denmark)

    Newman, Joseph V.; Burghoff, Robert L.; Pallesen, Lars

    1994-01-01

    Escherichia coli F-18, a normal human fecal isolate, is an excellent colonizer of the streptomycin-treated mouse large intestine. E. coli F-18Col-, a derivative of E. coli F-18 which no longer makes the E. coli F-18 colicin, colonizes the large intestine as well as E. coli F-18 when fed to mice a...

  7. Effects of a malfunctional column on conventional and FeedCol-simulated moving bed chromatography performance.

    Science.gov (United States)

    Song, Ji-Yeon; Oh, Donghoon; Lee, Chang-Ha

    2015-07-17

    The effects of a malfunctional column on the performance of a simulated moving bed (SMB) process were studied experimentally and theoretically. The experimental results of conventional four-zone SMB (2-2-2-2 configuration) and FeedCol operation (2-2-2-2 configuration with one feed column) with one malfunctional column were compared with simulation results of the corresponding SMB processes with a normal column configuration. The malfunctional column in SMB processes significantly deteriorated raffinate purity. However, the extract purity was equivalent or slightly improved compared with the corresponding normal SMB operation because the complete separation zone of the malfunctional column moved to a lower flow rate range in zones II and III. With the malfunctional column configuration, FeedCol operation gave better experimental performance (up to 7%) than conventional SMB operation because controlling product purity with FeedCol operation was more flexible through the use of two additional operating variables, injection time and injection length. Thus, compared with conventional SMB separation, extract with equivalent or slightly better purity could be produced from FeedCol operation even with a malfunctional column, while minimizing the decrease in raffinate purity (less than 2%). Copyright © 2015 Elsevier B.V. All rights reserved.

  8. Las cuentas del cuarto viaje de Cristóbal Colón

    Directory of Open Access Journals (Sweden)

    Gil, Juan

    2003-12-01

    Full Text Available The payroll of the fourth voyage of Christopher Columbus is here published for the fisrt time, signed by Admiral himself. A commentary is also furnished.

    Se publican por primera vez, con comentario, las cuentas del cuarto viaje de Cristóbal Colón, firmadas por el propio almirante.

  9. Two-step method for curing Escherichia coli of ColE1-derived plasmids

    DEFF Research Database (Denmark)

    Hove-Jensen, Bjarne

    2008-01-01

    To cure Escherichia coli for plasmids derived from the ColE1 replicon advantage is taken of the fact that maintenance of this replicon requires a wild-type allele of polA, encoding DNA polymerase I. Curing is achieved by cotransduction of a mutant polA allele with metE::Tn10, fadAB::Tn10 or other...

  10. Phase I and pharmacokinetic study of COL-3 in patients with recurrent high-grade gliomas.

    Science.gov (United States)

    Rudek, Michelle A; New, Pamela; Mikkelsen, Tom; Phuphanich, Surasak; Alavi, Jane B; Nabors, Louis B; Piantadosi, Steven; Fisher, Joy D; Grossman, Stuart A

    2011-11-01

    COL-3 is a chemically modified tetracycline that targets multiple aspects of matrix metalloproteinase regulation. This phase I clinical trial was conducted to determine the maximum tolerated dose (MTD) of COL-3 in adults with recurrent high-grade glioma, to describe the effects of enzyme-inducing antiseizure drugs (EIADs) on its pharmacokinetics, and to obtain preliminary evidence of activity. Adults with recurrent high-grade glioma were stratified by EIAD use. COL-3 was given orally daily without interruption until disease progression or treatment-related dose-limiting toxicity (DLT). Three patients in each EIAD group were evaluated at each dose level beginning with 25 mg/m(2)/day and escalated by 25 mg/m(2)/day. Toxicity, response, and pharmacokinetics were assessed. Thirty-three patients were evaluated. The MTD was 75 mg/m(2)/day in the -EIAD patients while one was not determined in +EIAD patients. The common toxicities observed were anemia, ataxia, diarrhea, hypokalemia, CNS hemorrhage, and myalgia. One partial response was observed. -EIAD patients tended to have a higher steady-state trough concentration that was apparent only at the 100 mg/m(2)/day dose level (P = 0.01). This study suggests that: (a) EIAD use does affect the pharmacokinetics of COL-3 at higher doses; and (b) there was not enough suggestion of single-agent activity to warrant further study in recurrent high-grade gliomas.

  11. Fibrochondrogenesis results from mutations in the COL11A1 type XI collagen gene.

    Science.gov (United States)

    Tompson, Stuart W; Bacino, Carlos A; Safina, Nicole P; Bober, Michael B; Proud, Virginia K; Funari, Tara; Wangler, Michael F; Nevarez, Lisette; Ala-Kokko, Leena; Wilcox, William R; Eyre, David R; Krakow, Deborah; Cohn, Daniel H

    2010-11-12

    Fibrochondrogenesis is a severe, autosomal-recessive, short-limbed skeletal dysplasia. In a single case of fibrochondrogenesis, whole-genome SNP genotyping identified unknown ancestral consanguinity by detecting three autozygous regions. Because of the predominantly skeletal nature of the phenotype, the 389 genes localized to the autozygous intervals were prioritized for mutation analysis by correlation of their expression with known cartilage-selective genes via the UCLA Gene Expression Tool, UGET. The gene encoding the α1 chain of type XI collagen (COL11A1) was the only cartilage-selective gene among the three candidate intervals. Sequence analysis of COL11A1 in two genetically independent fibrochondrogenesis cases demonstrated that each was a compound heterozygote for a loss-of-function mutation on one allele and a mutation predicting substitution for a conserved triple-helical glycine residue on the other. The parents who were carriers of missense mutations had myopia. Early-onset hearing loss was noted in both parents who carried a loss-of-function allele, suggesting COL11A1 as a locus for mild, dominantly inherited hearing loss. These findings identify COL11A1 as a locus for fibrochondrogenesis and indicate that there might be phenotypic manifestations among carriers.

  12. Effects of clinorotation on COL1A1- EGFP gene expression

    Institute of Scientific and Technical Information of China (English)

    DAI Zhongquan; LI Yinghui; DING Bai; ZHANG Yuguo; LIU Weiquan; LIU Pengpeng

    2004-01-01

    Bone-formation related gene plays a critical role in bone loss induced by space microgravity, however the exact mechanism is unclear. In this study, we aim to investigate the effect of microgravity on the activity of α 1(I) collagen (COL1A1) gene promoter and the expression of osteoblast-related genes. COL1A1 promoter was digested by restriction enzymes resulting in three DNA fragments. The fragments were ligated with the enhanced green fluorescent protein report gene, and subcloned into expression vectors. ROS17/2.8 cells transfected by these vectors were screened by G418, and enhanced green fluorescent protein (EGFP) positive colonies were isolated and cultured under clinostat condition. EGFP and Collagen type I expression level were detected by fluorescence intensity analysis and immunocytochemistry methods respectively. The results showed that the expression of EGFP and collagen type I was increased 24 h, 48 h after the cells were cultured under stimulated microgravity, illustrating that the activity of COL1A1 promoter might be increased. In conclusion, osteoblasts can compensatively increase the expression of type I collagen by enhancing the activity of COL1A1 promoter under short-term simulated microgravity conditions.

  13. NOVEL SPLICING MUTATION OF COL1A1 GENE CAUSING OSTEOGENESIS IMPERFECTA TYPE I IN CHINESE PEDIGREE

    Institute of Scientific and Technical Information of China (English)

    WU Xiao-lin; GU Ming-min; CUI Bing; LI Xi-hua; LU Zhen-yu; WANG Zhu-gang; YUAN Wen-tao; SONG Huai-dong

    2007-01-01

    Objective To detect the peculiar mutation in a Chinese family with osteogenesis imperfecta,COL1A1 and COL1A2 being analysed. Methods A genome screen was undertaken covering COL1A1 at 17q21-22 and COL1A2 at 7q22.1. The Linkage ( Version 5.1 ) was used for 2-point analysis. DNA sequencing was used to screen and identify the mutation. Results A linkage to the markers on chromosome 17q21-22 was observed. Sequence analysis of COL1A1 revealed a splicing mutation ( IVS8-2A > G) that converted the 3' end of intron 8 from AG to GG. Conclusion This mutation ( IVS 8-2A > G) is novel, and has not yet been registered in the Human Type Ⅰ and Type Ⅲ Collagen Mutations Database.

  14. Col-F, a fluorescent probe for ex vivo confocal imaging of collagen and elastin in animal tissues.

    Science.gov (United States)

    Biela, Ewa; Galas, Jerzy; Lee, Brian; Johnson, Gary L; Darzynkiewicz, Zbigniew; Dobrucki, Jurek W

    2013-06-01

    A new low-molecular-weight fluorescent probe, Col-F, that exhibits affinity to collagen and elastin, was used successfully in imaging of extracellular matrix in freshly excised animal tissues. Col-F readily penetrates between live cells into tissues and binds to fibers of collagen and elastin by a noncovalent mechanism. Fibers of collagen and elastin have been stained in a variety of tissues, including tendon, skeletal muscle, connective tissue, and arteries. Cells migrating in a Col-F-stained collagenous biomaterial were also imaged. No phototoxic effects were detected when live keratocytes were imaged in the in vitro culture in the presence of Col-F. In conclusion, Col-F provides a simple and convenient tool for fluorescence three-dimensional imaging of intricate collagenous and elastic structures in live and fixed animal tissues, as well as in collagen-containing biomaterials.

  15. Parental allelic variation at COL6A1 and congenital heart defects in trisomy 21

    Energy Technology Data Exchange (ETDEWEB)

    Kessling, A.M.; Howard, C.M.; Farrer, M.J. [St. Mary`s Hospital Medical School, London (United Kingdom)] [and others

    1994-09-01

    Overt congenital heart defects (CHD) affect over 40% of newborns with Down syndrome. On the hypothesis that genetic variation on chromosome 21 determines this clinical variability, we studied a CHD candidate locus (COL6A1) on 21q22.3. We studied three RFLP loci in COL6A1 in 37 families of known British/Irish population of ancestral origin, and in population-matched controls. Each family had a child with trisomy 21 with or without accompanying congenital heart defect (CHD). Parental and meiotic origin of nondisjunction were determined using peri-centromeric markers. For the analysis, we considered groups of families with trisomic children with and without CHD, and subsets of nondisjoining and disjoining parents. Parental genotypes at nine control RFLP loci on chromosome 21 showed no association with CHD in the trisomic child. By contrast, parental genotypes at all three individual RFLP loci within COL6A1 showed statistically significant association with the trisomic child`s CHD status. Pairwise consideration of these loci in groups of families of trisomic children with and without CHD showed subsets of nondisjoining and disjoining parents to have different linkage disequilibrium patterns at these loci than population-matched controls. This suggests that the COL6A1 alleles of the parents are not representative of the population as a whole. Consideration of all three loci together as haplotypes supports this conclusion. Four results suggest that a functional mutation within, or in linkage disequilibrium with COL6A1 influences CHD outcome in trisomy 21.

  16. Metastatic growth from dormant cells induced by a col-I-enriched fibrotic environment.

    Science.gov (United States)

    Barkan, Dalit; El Touny, Lara H; Michalowski, Aleksandra M; Smith, Jane Ann; Chu, Isabel; Davis, Anne Sally; Webster, Joshua D; Hoover, Shelley; Simpson, R Mark; Gauldie, Jack; Green, Jeffrey E

    2010-07-15

    Breast cancer that recurs as metastatic disease many years after primary tumor resection and adjuvant therapy seems to arise from tumor cells that disseminated early in the course of disease but did not develop into clinically apparent lesions. These long-term surviving, disseminated tumor cells maintain a state of dormancy, but may be triggered to proliferate through largely unknown factors. We now show that the induction of fibrosis, associated with deposition of type I collagen (Col-I) in the in vivo metastatic microenvironment, induces dormant D2.0R cells to form proliferative metastatic lesions through beta1-integrin signaling. In vitro studies using a three-dimensional culture system modeling dormancy showed that Col-I induces quiescent D2.0R cells to proliferate through beta1-integrin activation of SRC and focal adhesion kinase, leading to extracellular signal-regulated kinase (ERK)-dependent myosin light chain phosphorylation by myosin light chain kinase and actin stress fiber formation. Blocking beta1-integrin, Src, ERK, or myosin light chain kinase by short hairpin RNA or pharmacologic approaches inhibited Col-I-induced activation of this signaling cascade, cytoskeletal reorganization, and proliferation. These findings show that fibrosis with Col-I enrichment at the metastatic site may be a critical determinant of cytoskeletal reorganization in dormant tumor cells, leading to their transition from dormancy to metastatic growth. Thus, inhibiting Col-I production, its interaction with beta1-integrin, and downstream signaling of beta1-integrin may be important strategies for preventing or treating recurrent metastatic disease.

  17. Southwestern Washington 36 arc-second DEM

    Data.gov (United States)

    National Oceanic and Atmospheric Administration, Department of Commerce — The 36-second Southwest Washington Elevation Grid provides bathymetric data in ASCII raster format of 36-second resolution in geographic coordinates. This grid is...

  18. Willapa Bay, Washington Benthic Habitats 1995 Geodatabase

    Data.gov (United States)

    National Oceanic and Atmospheric Administration, Department of Commerce — In June 1995, the Columbia River Estuary Study Taskforce (CREST) acquired 295 true color aerial photographs (1:12,000) of Willapa Bay, Washington, from the State of...

  19. Willapa Bay, Washington Benthic Habitats 1995 Geoform

    Data.gov (United States)

    National Oceanic and Atmospheric Administration, Department of Commerce — In June 1995, the Columbia River Estuary Study Taskforce (CREST) acquired 295 true color aerial photographs (1:12,000) of Willapa Bay, Washington, from the State of...

  20. Willapa Bay, Washington Benthic Habitats 1995 Biotic

    Data.gov (United States)

    National Oceanic and Atmospheric Administration, Department of Commerce — In June 1995, the Columbia River Estuary Study Taskforce (CREST) acquired 295 true color aerial photographs (1:12,000) of Willapa Bay, Washington, from the State of...

  1. Willapa Bay, Washington Benthic Habitats 1995 Substrate

    Data.gov (United States)

    National Oceanic and Atmospheric Administration, Department of Commerce — In June 1995, the Columbia River Estuary Study Taskforce (CREST) acquired 295 true color aerial photographs (1:12,000) of Willapa Bay, Washington, from the State of...

  2. Timber resource statistics for southwest Washington.

    Science.gov (United States)

    Patricia M. Bassett; Daniel D. Oswald

    1981-01-01

    This report summarizes a 1978 timber-resource inventory of six counties in southwest Washington: Clark, Cowlitz, Lewis, Pacific, Skamania, and Wahkiakum. Detailed tables of forest area, timber volume, growth, mortality, and harvest are presented.

  3. Timber resource statistics for eastern Washington.

    Science.gov (United States)

    Patricia M. Bassett; Daniel D. Oswald

    1983-01-01

    This report summarizes a 1980 timber resource inventory of the 16 forested counties in Washington east of the crest of the Cascade Range. Detailed tables of forest area, timber volume, growth, mortality, and harvest are presented.

  4. Animals on the Washington Environmental Yard.

    Science.gov (United States)

    Moore, Robin; Wong, Herb

    1984-01-01

    Discusses various animal-related activities that took place in the natural resource area of the Washington Elementary School's (Berkeley, CA) environmental yard. The "yard" is open 24 hours a day and is freely accessible to informal users. (JN)

  5. EAARL Topography George Washington Birthplace National Monument

    Data.gov (United States)

    U.S. Geological Survey, Department of the Interior — A bare earth elevation map (also known as a Digital Elevation Model or DEM) of George Washington Birthplace National Monument was produced from remotely-sensed,...

  6. Cooperative Planning in Action: The Washington Experiment

    Science.gov (United States)

    Gell, Marilyn

    1976-01-01

    Library cooperation in the Metropolitan Washington area is described, along with its problems and successes, and the significant role special libraries can play in an ambitious intertype library cooperative. (Author/PF)

  7. EAARL Topography George Washington Birthplace National Monument

    Data.gov (United States)

    U.S. Geological Survey, Department of the Interior — A bare earth elevation map (also known as a Digital Elevation Model or DEM) of George Washington Birthplace National Monument was produced from remotely-sensed,...

  8. Southwestern Washington 6 arc-second DEM

    Data.gov (United States)

    National Oceanic and Atmospheric Administration, Department of Commerce — The 6-second Southwest Washington Elevation Grid provides bathymetric data in ASCII raster format of 6-second resolution in geographic coordinates. This grid is...

  9. 30 CFR 947.700 - Washington Federal program.

    Science.gov (United States)

    2010-07-01

    ... Forest Practices Act, RCW 76.09. (5) Washington Water Code, RCW 90.03. (6) Washington Water Pollution Control Act, RCW 90.48. (7) Washington Minimum Water Flows and Levels Act, RCW 90.22. (8) Washington... necessary because of the nature of the terrain, climate, biological, chemical, or other relevant physical...

  10. Skeletal phenotypes in adult patients with osteogenesis imperfecta-correlations with COL1A1/COL1A2 genotype and collagen structure

    DEFF Research Database (Denmark)

    Hald, J D; Folkestad, L; Harsløf, T

    2016-01-01

    Osteogenesis imperfecta (OI) is characterized by a high fracture rate and great heterogeneity. This cross-sectional study presents skeletal investigations and protein analyses in 85 adult OI patients. We find significant differences in bone mass, architecture, and fracture rate that correlate well...... of this study was to improve our understanding of clinical manifestations by investigating anthropometry and skeletal phenotypes (DXA, HRpQCT) in an adult OI population and compare the findings to underlying COL-1 genotype and structure. METHODS: The study comprised 85 OI patients aged 45 (19-78) years...

  11. Effects of Different Exercise Modes on the MHC- Ⅱ, COL- I and COL-Ⅲ in Healing Process of Acute Skeletal Muscle Injury of Rats%不同运动方式对大鼠骨骼肌急性拉伤修复过程中MHC-Ⅱ,COL-Ⅰ、COL-Ⅲ的影响

    Institute of Scientific and Technical Information of China (English)

    廖远朋; 矫玮

    2011-01-01

    Purpose To investigate the effect of eccentric and concentric exercises on the fibrosis and the regeneration in acute skeletal muscle sprain healing process. Methods One hundred and twenty adult female SD rats were divided randomly into 6 groups: blank control group (BC, ? = 8) , immediate after acute sprain group (IM? N = 8) , first week after acute sprain group (1W? N = 8) , natural-healing group (NH, n = 32) , concentric-exercise group (CE, n = 32) and eccentric-exercise group (EE, n = 32) . One week after the acute muscle sprain, the CE group and EE group were respectively carried on concentric exercise and eccentric exercise for a total of 4 weeks. Gastrocnemius inIM group. 1W group, and BC group was drawn immediate. 7 days and 18 days after the acute muscle sprain, and in the others was drawn 14 days, 21 days, 28 days and 35 days after the acute muscle sprain, respectively. The MHC-II (myosin heavy chain-II) , and collagen type I (COL-1 ) and type III (COL-HI) were detected through immunohistochemistry. Results The concentric exercise accelerated the synthesis of MHC- II and the eccentric exercise accelerated the synthesis of COL-M in the whole process of healing, especially in early stage; both of the eccentric and concentric exercise decreased COL-1. Conclusion The concentric exercise promotes and accelerates the regeneration process by increasing the MHC- II; and both of them inhibit the fibrosis process, especially the concentric exercise. Eccentric exercises endows the injured muscle with better strength and mechanical stability in early stage and promotes the fibrosis process in the later stage of the healing process by increasing COL- M.%目的:了解不同运动方式(离心运动、向心运动)对骨骼肌拉伤愈合过程中肌肉再生和纤维化过程的影响.方法:将120只成年雌性SD大鼠随机分为空白组(BC组,n=8)、即刻组(IM组,n=8)、第1周组(1W组,n=8)、自然愈合组(NC组,n=32)、向心运动组(CE组,n=32)

  12. George Washington and the Politics of War and Revolution

    Science.gov (United States)

    2015-05-23

    58 Higginbotham, George Washington and the American Military Tradition, 8. 59 George Washington to Robert Dinwiddie, 18 July 1755, The...University, 1914): 144; quoted in Hughes, George Washington: The Rebel and The Patriot, 201. 26 the radical camp. Robert Nicholas Carter, on 24...Continental Army (Washington, DC: Center for Military History, 1983), 11. 76 George Washington to Robert Mackenzie, 9 October 1774, WGW, 3:245-246

  13. High mutation detection rate in the COL4A5 collagen gene in suspected Alport syndrome using PCR and direct DNA sequencing

    DEFF Research Database (Denmark)

    Martin, P; Heiskari, N; Zhou, J

    1998-01-01

    Approximately 85% of patients with Alport syndrome (hereditary nephritis) have been estimated to have mutations in the X chromosomal COL4A5 collagen gene; the remaining cases are autosomal with mutations in the COL4A3 or COL4A4 genes located on chromosome 2. In the present work, the promoter...

  14. A putative colR(XC1049)-colS(XC1050) two-component signal transduction system in Xanthomonas campestris positively regulates hrpC and hrpE operons and is involved in virulence, the hypersensitive response and tolerance to various stresses.

    Science.gov (United States)

    Zhang, Sui-Sheng; He, Yong-Qiang; Xu, Li-Ming; Chen, Bo-Wen; Jiang, Bo-Le; Liao, Jie; Cao, Jin-Rui; Liu, Dan; Huang, Yan-Qiang; Liang, Xiao-Xia; Tang, Dong-Jie; Lu, Guang-Tao; Tang, Ji-Liang

    2008-01-01

    The ColR-ColS two-component signal transduction system was originally characterized as a regulatory system involved in the capacity of root-colonizing biocontrol bacterium Pseudomonas fluorescens to colonize plant roots. There are three pairs of putative colR-colS two-component regulatory systems annotated in the phytopathogen Xanthomonas campestris pathovar campestris. Mutational studies revealed that one of them, named colR(XC1049) and colS(XC1050), is a global regulatory system involved in various cellular processes, including virulence, hypersensitive response and stress tolerance. Growth rate determination showed that, although the colR(XC1049) and colS(XC1050) mutants are not auxotrophic, colR(XC1049) and colS(XC1050) are required for the pathogen to proliferate well in standard media and host plants. Assays of beta-glucuronidase activities of plasmid-driven promoter-gusA reporters and/or semi-quantitative RT-PCR demonstrated that colR(XC1049) and colS(XC1050) positively regulate expression of hrpC and hrpE operons, and that expression of colR(XC1049) and colS(XC1050) is not controlled by key hrp regulators HrpG and HrpX.

  15. Synthesis, Structures and Antimicrobial Activities of Two Cobalt(II) Complexes [Co(L1)2(OH2)2] and [Co(L2)2].

    Science.gov (United States)

    Han, Yong-Jun; Wang, Li; Li, Qing-Bin; Xue, Ling-Wei

    2017-01-01

    A new cobalt(II) complex, [Co(L1)2(OH2)2] (1), was prepared by the reaction of 3-bromo-5-chlorosalicylaldehyde (HL1) with cobalt nitrate in methanol. Reaction of 1 with cyclopropylamine in methanol afforded the Schiff base cobalt(II) complex, [Co(L2)2] (2), where L2 is the deprotonated form of 2-bromo-4-chloro-6-(cyclopropyliminomethyl)phenol (HL2). The complexes have been characterized by elemental analyses, IR spectroscopy, and single-crystal X-ray diffraction. The L1 ligand coordinates to the Co atom through the phenolate O and carbonyl O atoms, while the L2 ligand coordinates to the Co atom through the phenolate O and imino N atoms. The Co atom in complex 1 adopts octahedral coordination and that in complex 2 adopts tetrahedral coordination. The effect of the free ligands and the cobalt complexes on the antimicrobial activities against Staphylococcus aureus, Escherichia coli, and Candida albicans was studied.

  16. COL1A1/COL1A2基因突变分析与成骨不全的产前基因诊断%Gene mutation analysis of COL1A1/COL1A2 and prenatal genetic diagnosis of osteogenesis imperfecta

    Institute of Scientific and Technical Information of China (English)

    李焕铮; 唐少华; 毛义建; 谢丙乐

    2012-01-01

    Objective: In this study, the patients with OI pregnancy history were required to have ultrasound ( US) examination and COL1A1/COL1A2 gene mutation detection. It is helpful to establish a clinical protocol for OI patient and provide the technical security for prenatal diagnosis. Methods: The pregnant woman with Oi pregnancy history must be monitored by US. According to ultra-sonography of fetal femur and long bone, it was diagnosed as OI. Amniotic fluid was drawn from pregnant woman with ultrasound abnormality. The sample was detected for COL1A1 and C0L1A2 mutations using direct sequencing. According to the result of new mutation detection, the COL1A1 and C0L1A2 genetic mutation for all family members were detected and analyzed. Identification of maternal blood contamination must be done before tests. Results; The ultrasound imaging showed that the fetus' femur was short, tibiofibula was angled bend, skull was thinning and multiple fractures were found. So we consider fetus was OI. The sample was identified without maternal blood contamination by STR. The COL1A1 of fetus was identified with 19 SNP loci, but no mutation was found. The C0L1A2 was identified with 13 SNP loci, and a G and A heterozygosis mutation at the exon 36 was found. The pregnant woman was found with the same mutation, but the clinical picture was different. Other members were tested with no detectable mutation. Conclusion; The pregnant woman with OI pregnancy history would be monitored by US and detected by genetic tests. It is very import for the sake of birth defects prevention.%目的 对有成骨不全(Osteogenesis Imperfecta,OI)孕史的患者,进行系统B超及COLtA1/COL1A2基因检测,希望建立OI患儿产前诊断方案,为OI患儿进行产前诊断提供技术保障.方法 对于有OI孕史的孕妇,进行系统B超监测;根据胎儿股骨、长骨的超声影像学表现,初诊为成骨不全.抽取羊水,采用直接测序法对羊水DNA的COL1A1和COL1A2基因全编码外显子

  17. Porencephaly in a fetus and HANAC in her father: variable expression of COL4A1 mutation.

    Science.gov (United States)

    Takenouchi, Toshiki; Ohyagi, Masaki; Torii, Chiharu; Kosaki, Rika; Takahashi, Takao; Kosaki, Kenjiro

    2015-01-01

    COL4A1-associated disorders encompass a wide range of hereditary vasculopathy, including porencephaly and HANAC (adult-onset hemorrhagic stroke with cerebral aneurysm and retinal arterial tortuosity, renal cysts, and thenar muscle cramp). It remains elusive whether or not porencephaly and HANAC are molecularly distinctive disorders due to different classes of mutations. We report on a girl with porencephaly and an episode of microangiopathic hemolysis in infancy and her father with HANAC, both of whom had a heterozygous missense mutation of COL4A1 (c.3715G>A, p.G1239R). The current observation implies phenotypic diversities of COL4A1 mutations.

  18. 75 FR 10446 - Security Zone; Potomac River, Washington Channel, Washington, DC

    Science.gov (United States)

    2010-03-08

    ..., Washington, DC AGENCY: Coast Guard, DHS. ACTION: Notice of proposed rulemaking. SUMMARY: The Coast Guard... New Jersey Avenue, SE., Washington, DC 20590-0001. (4) Hand Delivery: Same as mail address above..., DC 20590, between 9 a.m. and 5 p.m., Monday through Friday, except Federal holidays. We have...

  19. 75 FR 28757 - Security Zone; Potomac River, Washington Channel, Washington, DC

    Science.gov (United States)

    2010-05-24

    ..., Washington, DC AGENCY: Coast Guard, DHS. ACTION: Temporary final rule. SUMMARY: The Coast Guard is... Transportation, West Building Ground Floor, Room W12-140, 1200 New Jersey Avenue, SE., Washington, DC 20590..., DC on Monday, May 24, 2010. To address security concerns during the event, the Captain of the...

  20. Dubois and Washington -- Opposite or Similar: An Evaluation of the Philosophies of Washington and Dubois.

    Science.gov (United States)

    Reedom, John Anthony

    Although comparative analysis of the philosophies of Booker T. Washington and W.E.B. DuBois reveals significant differences in preferred solutions to problems of blacks in the United States, the philosophies of the two men are not as diametrically opposed as scholars have generally maintained. Washington's philosophy was one of conciliation…

  1. Explorant el treball a la blogosfera: la paradoxa de l’aprenentatge col·laboratiu

    Directory of Open Access Journals (Sweden)

    Jorge Lizandra Mora

    2016-06-01

    Full Text Available Amb l’objectiu de solucionar diversos problemes que sorgiren en la posada en pràctica d’una experiència d’innovació basada en la creació d’una blogosfera, es portà a terme una investigació educativa i qualitativa a partir de la col·laboració docent i de les opinions de l’alumnat. A més dels aspectes positius, es detectaren dificultats amb la gestió del treball en equipo i de familiarització amb la ferramenta a les que els propis estudiants proposaren diverses solucions. Abordar aquesta circumstància de forma col·laborativa i donant veu a l’alumnat ha permès que l’experiència concloguera exitosament, resultant ser una bona pràctica educativa.

  2. Structural constraints on the evolution of the collagen fibril: convergence on a 1014-residue COL domain.

    Science.gov (United States)

    Slatter, David Anthony; Farndale, Richard William

    2015-05-01

    Type I collagen is the fundamental component of the extracellular matrix. Its α1 gene is the direct descendant of ancestral fibrillar collagen and contains 57 exons encoding the rod-like triple-helical COL domain. We trace the evolution of the COL domain from a primordial collagen 18 residues in length to its present 1014 residues, the limit of its possible length. In order to maintain and improve the essential structural features of collagen during evolution, exons can be added or extended only in permitted, non-random increments that preserve the position of spatially sensitive cross-linkage sites. Such sites cannot be maintained unless the twist of the triple helix is close to 30 amino acids per turn. Inspection of the gene structure of other long structural proteins, fibronectin and titin, suggests that their evolution might have been subject to similar constraints.

  3. Somatic mosaicism and the phenotypic expression of COL2A1 mutations.

    Science.gov (United States)

    Nagendran, Sonali; Richards, Allan J; McNinch, Annie; Sandford, Richard N; Snead, Martin P

    2012-05-01

    Mutations in COL2A1, the gene for type II-collagen, can result in a wide variety of phenotypes depending upon the nature of the mutation. Dominant negative mutations tend to result in severe and often lethal skeletal dysplasias such as achondrogenesis type 2, Kniest dysplasia, and spondyloepiphyseal dysplasia congenita. Stickler syndrome, a condition characterized by ophthalmological and orofacial features, deafness and arthritis, usually, but not exclusively, results from haploinsufficiency. Overlapping features of all these disorders can also be seen in the same family. Rare reports have demonstrated that phenotypic variability can be explained in some families by somatic mosaicism. Here, we describe five further examples of somatic mosaicism of COL2A1 mutations illustrating the importance of detailed clinical evaluation and molecular testing even in clinically normal parents of affected individuals.

  4. Synergistic interaction of platelet derived growth factor (PDGF) with the surface of PLLA/Col/HA and PLLA/HA scaffolds produces rapid osteogenic differentiation.

    Science.gov (United States)

    Raghavendran, Hanumantha Rao Balaji; Mohan, Saktiswaren; Genasan, Krishnamurithy; Murali, Malliga Raman; Naveen, Sangeetha Vasudevaraj; Talebian, Sepehr; McKean, Robert; Kamarul, Tunku

    2016-03-01

    Scaffolds with structural features similar to the extracellular matrix stimulate rapid osteogenic differentiation in favorable microenvironment and with growth factor supplementation. In this study, the osteogenic potential of electrospun poly-l-lactide/hydroxyapatite/collagen (PLLA/Col/HA, PLLA/HA and PLLA/Col) scaffolds were tested in vitro with the supplementation of platelet derived growth factor-BB (PDGF-BB). Cell attachment and topography, mineralization, extracellular matrix protein localization, and gene expression of the human mesenchymal stromal cells were compared between the fibrous scaffolds PLLA/Col/HA, PLLA/Col, and PLLA/HA. The levels of osteocalcin, calcium, and mineralization were significantly greater in the PLLA/Col/HA and PLLA/HA compared with PLLA/Col. High expression of fibronectin, intracellular adhesion molecule, cadherin, and collagen 1 (Col1) suggests that PLLA/Col/HA and PLLA/HA scaffolds had superior osteoinductivity than PLLA/Col. Additionally, osteopontin, osteocalcin, osterix, Runt-related transcription factor 2 (Runx2), and bone morphogenic protein (BMP2) expression were higher in PLLA/Col/HA and PLLA/HA compared with PLLA/Col. In comparison with PLLA/Col, the PLLA/Col/HA and PLLA/HA scaffolds presented a significant upregulation of the genes Runx2, Col 1, Integrin, osteonectin (ON), bone gamma-carboxyglutamic acid-containing protein (BGALP), osteopontin (OPN), and BMP2. The upregulation of these genes was further increased with PDGF-BB supplementation. These results show that PDGF-BB acts synergistically with PLLA/Col/HA and PLLA/HA to enhance the osteogenic differentiation potential. Therefore, this combination can be used for the rapid expansion of bone marrow stromal cells into bone-forming cells for tissue engineering.

  5. Views of Astronaut (Col.) Joe Engle and son Jon with L-5 Piper Cub

    Science.gov (United States)

    1981-01-01

    Views of Astronaut (Col.) Joe Engle and son Jon with L-5 Piper Cub at Clover Airport. Photos includes Jon Engle sitting on side door frame working on portion of wing. Joe Engle is behind him working on a wing strut (34329); Joe Engle works on tightening bolt (34330); Jon Engle works on portion of wing which connects to the cockpit. Joe Engle works on connecting strut to wing (34331).

  6. Colômbia 2010: Guerra, Paz e Eleições

    Directory of Open Access Journals (Sweden)

    Luiz Antônio Gusmão

    2009-02-01

    Full Text Available

    O enfraquecimento das Farc deve polarizar as

    eleições de 2010 na Colômbia entre recrudescimento

    do combate e abertura à negociação.

  7. Views of Astronaut (Col.) Joe Engle and son Jon with L-5 Piper Cub

    Science.gov (United States)

    1981-01-01

    Views of Astronaut (Col.) Joe Engle and son Jon with L-5 Piper Cub at Clover Airport. Photos includes Jon Engle sitting on side door frame working on portion of wing. Joe Engle is behind him working on a wing strut (34329); Joe Engle works on tightening bolt (34330); Jon Engle works on portion of wing which connects to the cockpit. Joe Engle works on connecting strut to wing (34331).

  8. Estudio del proceso de transformación del colágeno en gelatina

    OpenAIRE

    Bonmatí Limorte, María del Carmen; León Albert, Gerardo

    1983-01-01

    Se ha realizado un estudio del proceso de transformación de colágeno en gelatina utilizando la viscosidad reducida como parámetro de control. Se ha observado una gran influencia de la temperatura y del tiempo de calentamiento sobre este proceso, así como sobre la temperatura de desnaturalización. Se han determinado igualmente las entalpia y entropía de desnaturalización.

  9. A COL4A5 mutation with glomerular disease and signs of chronic thrombotic microangiopathy.

    Science.gov (United States)

    Wuttke, Matthias; Seidl, Maximilian; Malinoc, Angelica; Prischl, Friedrich C; Kuehn, E Wolfgang; Walz, Gerd; Köttgen, Anna

    2015-12-01

    COL4A5 mutations are a known cause of Alport syndrome, which typically manifests with haematuria, hearing loss and ocular symptoms. Here we report on a 16-year-old male patient with a negative family history who presented with proteinuria, progressive renal failure and haemolysis, but without overt haematuria or hearing loss. A renal biopsy revealed features of atypical IgA nephropathy, while a second biopsy a year later showed features of focal segmental glomerulosclerosis, but was finally diagnosed as chronic thrombotic microangiopathy. Targeted sequencing of candidate genes for steroid-resistant nephrotic syndrome and congenital thrombotic microangiopathy was negative. Despite all therapeutic efforts, including angiotensin-converting enzyme inhibition, immunosuppressive therapy, plasma exchanges and rituximab, the patient progressed to end-stage renal disease. When a male cousin presented with nephrotic syndrome years later, whole-exome sequencing identified a shared disruptive COL4A5 mutation (p.F222C) that showed X-linked segregation. Thus, mutations in COL4A5 give rise to a broader spectrum of clinical presentation than commonly suspected, highlighting the benefits of comprehensive rather than candidate genetic testing in young patients with otherwise unexplained glomerular disease. Our results are in line with an increasing number of atypical presentations of single-gene disorders identified through genome-wide sequencing.

  10. Generation of Col2a1-EGFP iPS cells for monitoring chondrogenic differentiation.

    Directory of Open Access Journals (Sweden)

    Taku Saito

    Full Text Available Induced pluripotent stem cells (iPSC are a promising cell source for cartilage regenerative medicine; however, the methods for chondrocyte induction from iPSC are currently developing and not yet sufficient for clinical application. Here, we report the establishment of a fluorescent indicator system for monitoring chondrogenic differentiation from iPSC to simplify screening for effective factors that induce chondrocytes from iPSC. We generated iPSC from embryonic fibroblasts of Col2a1-EGFP transgenic mice by retroviral transduction of Oct4, Sox2, Klf4, and c-Myc. Among the 30 clones of Col2a1-EGFP iPSC we established, two clones showed high expression levels of embryonic stem cell (ESC marker genes, similar to control ESC. A teratoma formation assay showed that the two clones were pluripotent and differentiated into cell types from all three germ layers. The fluorescent signal was observed during chondrogenic differentiation of the two clones concomitant with the increase in chondrocyte marker expression. In conclusion, Col2a1-EGFP iPSC are useful for monitoring chondrogenic differentiation and will contribute to research in cartilage regenerative medicine.

  11. Pertinencia de los postgrados para economistas en el Núcleo LUZ–COL

    Directory of Open Access Journals (Sweden)

    Ana Teresa Prieto Sánchez

    2002-01-01

    Full Text Available El presente artículo tiene como finalidad presentar los resultados obtenidos en un estudio de mercado, cuyo objetivo fue determinar la pertinencia de los postgrados para economistas en el Núcleo LUZ-COL. En dicho estudio se analizaron las expectativas, necesidades y percepciones de los usuarios potenciales del servicio de postgrado, considerando como usuarios potenciales (demanda a los entes empleadores de la COL, docentes de economía en el Núcleo, egresados del programa de economía en el Núcleo y estudiantes del último semestre de la carrera. Estos elementos sirvieron de base para conocer la pertinencia o no del postgrado. La metodología utilizada se fundamentó en una investigación descriptiva y cualitativa, en donde se utilizó el cuestionario como instrumento, para recabar la información primaria. Los resultados muestran una alta necesidad de los programas de postgrados para economistas y delimitan una demanda potencial considerable. El análisis permitió concluir que sí son pertinentes los postgrados para economistas en el Núcleo COL, en las áreas de gerencia de empresas, formulación y evaluación de proyectos, costos o finanzas; del tipo maestría o especialización profesional. En virtud de los resultados, se recomienda, desarrollar estrategias viables que permitan a los tomadores de decisión implementar el postgrado para economistas en el Núcleo.

  12. Loss of col8a1a function during zebrafish embryogenesis results in congenital vertebral malformations.

    Science.gov (United States)

    Gray, Ryan S; Wilm, Thomas P; Smith, Jeff; Bagnat, Michel; Dale, Rodney M; Topczewski, Jacek; Johnson, Stephen L; Solnica-Krezel, Lilianna

    2014-02-01

    Congenital vertebral malformations (CVM) occur in 1 in 1000 live births and in many cases can cause spinal deformities, such as scoliosis, and result in disability and distress of affected individuals. Many severe forms of the disease, such as spondylocostal dystostosis, are recessive monogenic traits affecting somitogenesis, however the etiologies of the majority of CVM cases remain undetermined. Here we demonstrate that morphological defects of the notochord in zebrafish can generate congenital-type spine defects. We characterize three recessive zebrafish leviathan/col8a1a mutant alleles ((m531, vu41, vu105)) that disrupt collagen type VIII alpha1a (col8a1a), and cause folding of the embryonic notochord and consequently adult vertebral column malformations. Furthermore, we provide evidence that a transient loss of col8a1a function or inhibition of Lysyl oxidases with drugs during embryogenesis was sufficient to generate vertebral fusions and scoliosis in the adult spine. Using periodic imaging of individual zebrafish, we correlate focal notochord defects of the embryo with vertebral malformations (VM) in the adult. Finally, we show that bends and kinks in the notochord can lead to aberrant apposition of osteoblasts normally confined to well-segmented areas of the developing vertebral bodies. Our results afford a novel mechanism for the formation of VM, independent of defects of somitogenesis, resulting from aberrant bone deposition at regions of misshapen notochord tissue.

  13. Volume da gota dos colírios lubrificantes: estudo farmacoeconômico

    Directory of Open Access Journals (Sweden)

    Alexandre Xavier da Costa

    2015-12-01

    Full Text Available RESUMO Objetivo: Determinar o volume médio das gotas produzidas pelos colírios lubrificantes em diferentes ângulos de inclinação e determinar o custo médio do tratamento. Métodos: Determinação do volume da gota de 3 frascos originais dos colírios lubrificantes Artelac®, Hylo Comod®, Lacrima® Plus, Systane® UL, Lacrifilm®, Hyabak®, Lacribell®, Ecofilm®, Mirugell®, Plenigell®, Fresh Tears®, Optive® e Endura® à inclinação de 90º e 45º. Determinou-se o número médio de gotas em cada frasco e foi feita avaliação farmacoeconômica dos colírios. Resultados: O volume das gotas variou de 32,2 a 64,0 µL a 45o e de 29,1 a 65,1 µL a 90o. A diferença entre as gotas em cada inclinação foi de 2 a 24% e o custo anual dos colírios de acordo com a inclinação variou de R$2,73 a R$130,73. A Duração Máxima de Tratamento (DMT foi de 29,3 a 51,4 dias na inclinação de 45o, e de 28,8 a 48,4 dias a 90º, sendo que a diferença na DMT foi de 0,5 até 8 dias a mais ou a menos, de acordo com a marca. Conclusão: Nenhum dos colírios estudados apresentou gotas ideais para o olho humano, levando a um desperdício do produto e maior custo para o fabricante e para o consumidor. Percebemos que existe uma variação significativa no volume da gota de acordo com a inclinação do frasco, e que uma variação maior do que 10% traria impactos financeiros para o paciente.

  14. Anencephaly: An Ongoing Investigation in Washington State.

    Science.gov (United States)

    Barron, Sara

    2016-03-01

    : In the spring of 2012, a nurse in Washington State detected a cluster of babies born with anencephaly-a fatal condition in which infants are born without parts of the brain or skull. The resulting investigation initially confirmed a rate of anencephaly between January 2010 and January 2013 of 8.4 per 10,000 live births-more than four times the national average. As of November 2015, cases of anencephaly in Washington State have continued to increase, with the current rate estimated at 9.5 per 10,000 live births. While no distinct cause has yet been determined, neural tube defects-including anencephaly-are known to have multiple causes, including folic acid deficit, genetic variants in the folate pathway, and exposure to a variety of environmental and occupational toxins. This article describes many of these risk factors and explores the findings of Washington's ongoing investigation.

  15. The ColRS system of Xanthomonas oryzae pv. oryzae is required for virulence and growth in iron-limiting conditions.

    Science.gov (United States)

    Subramoni, Sujatha; Pandey, Alok; Vishnu Priya, M R; Patel, Hitendra Kumar; Sonti, Ramesh V

    2012-09-01

    Xanthomonas oryzae pv. oryzae, the causal agent of bacterial blight of rice, produces siderophores only under iron-limiting conditions. We screened 15 400 mTn5-induced mutants of X. oryzae pv. oryzae and isolated 27 mutants that produced siderophores even under iron-replete conditions. We found that the mTn5 insertions in 25 of these mutants were in or close to six genes. Mutants with insertions in five of these genes [colS, XOO1806 (a conserved hypothetical protein), acnB, prpR and prpB] exhibited a deficiency for growth on iron-limiting medium and a decrease in virulence. Insertions in a sixth gene, XOO0007 (a conserved hypothetical protein), were found to affect the ability to grow on iron-limiting medium, but did not affect the virulence. Targeted gene disruptants for colR (encoding the predicted cognate regulatory protein for ColS) also exhibited a deficiency for growth on iron-limiting medium and a decrease in virulence. colR and colS mutants were defective in the elicitation of hypersensitive response symptoms on the nonhost tomato. In addition, colR and colS mutants induced a rice basal defence response, suggesting that they are compromised in the suppression of host innate immunity. Quantitative reverse transcription-polymerase chain reaction (RT-PCR) analysis demonstrated that a functional ColRS system is required for the optimal expression of several genes encoding components of the type 3 secretion system (T3SS) of X. oryzae pv. oryzae. Our results demonstrate the role of several novel genes, including colR/colS, in the promotion of growth on iron-limiting medium and the virulence of X. oryzae pv. oryzae.

  16. Study and progress of collagen Ⅳ gene COL4A1 mutations%Ⅳ型胶原基因COL4A1突变的研究进展

    Institute of Scientific and Technical Information of China (English)

    安丽梅; 夏欣一

    2011-01-01

    Ⅳ型胶原蛋白基因α1 (COL4A1)编码Ⅳ型胶原的α1链,是各种组织基底膜的主要结构成分.基底膜由胶原、层粘连蛋白、蛋白多糖和巢蛋白组成,在所有胶原成分中,最重要的是Ⅳ型胶原.COL4A1基因突变能引起多种疾病,在一定的环境压力下会引发HANAC综合征、肾病、孔洞脑、白内障等疾病.本文主要从COL4A1的结构、组成及在基底膜中的作用等方面,对COI4A1基因突变引发的人类疾病及其发病机制进行综述.%α1 type IV collagen (COL4A1) encodes the α1 chain of type Ⅳ collagen. Collagen type Ⅳ is the most abundant structural BM component in a variety of tissues. In general, Basement membranes ( BMs) are composed of collagens, laminins, perle-can, and nidogens. Collagen IV is important to BM. Mutations in COL4A1 gene have been linked to a spectrum of diverse diseases caused by abnormalities of these molecules in the kidney, brain and eyes. In this review, we will cover, after a short overview of the molecular basis of the COL4A1 and the main BM components, the current knowledge of diseases caused by COL4A1 mutations and summarize the possible mechanisms of mutations and human diseases.

  17. Washington Irving and the American Indian.

    Science.gov (United States)

    Littlefield, Daniel F., Jr.

    1979-01-01

    Some modern scholars feel that Washington Irving vacillated between romanticism and realism in his literary treatment of the American Indian. However, a study of all his works dealing with Indians, placed in context with his non-Indian works, reveals that his attitude towards Indians was intelligent and enlightened for his time. (CM)

  18. Endangered Plants in Oregon and Washington.

    Science.gov (United States)

    Love, Rhoda M.

    1985-01-01

    Presents a partial list of the 132 Oregon and Washington plants which have been proposed for federal protection under the Endangered Species Act. Suggestions for student/citizen involvement in preserving these species and a description of a videotape about rare/endangered species of the Willamette Valley (Oregon) are included. (DH)

  19. Doctors of Osteopathy Licensed in Washington.

    Science.gov (United States)

    Senters, Jo

    Based on information gathered by the Health Manpower Project through a survey cosponsored with the Washington Osteopathic Medical Association, this report begins with a statement of philosophy of osteopathic medicine and proceeds to comment on where such professional education is available. Remarks on the type of educational background of the…

  20. Washington (Wash) C. Winn: In Memoriam

    Centers for Disease Control (CDC) Podcasts

    2012-03-08

    Dr. Mike Miller and Dr. David Walker dicuss the career and life of noted clinical biologist, Dr. Washington C. Winn Jr.  Created: 3/8/2012 by National Center for Emerging and Zoonotic Infectious Diseases (NCEZID).   Date Released: 3/12/2012.

  1. 49 CFR 372.219 - Washington, DC

    Science.gov (United States)

    2010-10-01

    ... and is comprised of all points as follows: (a) The municipality of Washington, D.C., itself; (b) All... Manassas, VA, and the City of Manassas Park, VA. (d) All of any municipality any part of which is within... municipality wholly surrounded, or so surrounded except for a water boundary, by the municipality of...

  2. 75 FR 14462 - Notice of Inventory Completion: Central Washington University, Department of Anthropology...

    Science.gov (United States)

    2010-03-25

    ... Anthropology, Ellensburg, WA, and Thomas Burke Memorial Washington State Museum, University of Washington... of Anthropology, Ellensburg, WA, and the Thomas Burke Memorial Washington State Museum (Burke Museum... Henebry-DeLeon, NAGPRA Program Director, Department of Anthropology, Central Washington...

  3. Relationships between aerosol and snow chemistry at King Col, Mt. Logan Massif, Yukon, Canada

    Science.gov (United States)

    Yalcin, Kaplan; Wake, Cameron P.; Dibb, Jack E.; Whitlow, Sallie I.

    Simultaneous samples of aerosol ( n=48) and recent snow ( n=193) chemistry were collected at King Col (4135 m) in the St. Elias Mountains, Yukon, between 17 May and 11 June 2001. Major ion concentrations in aerosol samples were low with the total ionic burden averaging 5.52 neq m -3 at standard temperature and pressure (STP). Interspecies aerosol relationships indicate the presence of (NH 4) 2SO 4 aerosol at King Col. An aerosol Cl - deficiency relative to seawater suggests volatilization of HCl by reaction with unneutralized SO42- that is present in half of the samples. Backwards trajectories for select aerosol concentration peaks document the transport of Asian dust and anthropogenic emissions, the eruption plume from the 22 May eruption of Sheveluch, Kamchatka, and sea salt from the marine boundary layer over the Gulf of Alaska to King Col during the sampling period. Fresh snow chemistry generally mimics aerosol chemistry with similar relative abundances and interspecies relationships except for large enrichments in snow Cl - and NO3- relative to aerosol due to snow scavenging of gas-phase HCl and HNO 3. Although relatively strong correlations between aerosol and snow concentrations were observed for species associated with accumulation mode aerosols, e.g. NH4+ ( r=0.56) and SO42- ( r=0.43), only weak correlations were observed for dust and sea-salt species. These results are influenced by greater variability in concentrations between replicate snow samples for species associated with coarse mode dust and sea-salt particles and by snow scavenging of gas-phase HCl and HNO 3.

  4. La recepción humboldtiana de Cristóbal Colón

    Directory of Open Access Journals (Sweden)

    Alejandro Cheirif Wolosky

    2014-08-01

    Full Text Available Abstract This article explores Alexander von Humboldt’s reception of Christopher Columbus as a historical figure, mainly in his Relation historique and in his Examen critique. First of all, it explores what Humboldt’s biographers have referred to as a “zweiter Kolumbus” (a second Columbus. It then proceeds to trace the history of a “poetic imagination” and a “mythical geography” attributed by Humboldt to Christopher Columbus. Resumen Este artículo explora la recepción realizada por Alexander von Humboldt de la figura de Cristóbal Colón, principalmente en su Relation historique y en su Examen critique. En primer lugar, el artículo explora lo que los biógrafos de Humboldt han llamado “ein zweiter Kolumbus” (un segundo Colón. En segundo lugar, se traza la historia de la edificación humboldtianna de una “imaginación poética” y de una “geografía mítica” atribuidas por Humboldt a Cristóbal Colón. Résumé Cet article explore la réception réalisée par Alexander von Humboldt de la figure de Christophe Colomb, principalement dans sa Relation historique et dans son Examen critique. En premier lieu, il explore ce que les biographes de Humboldt ont appelé “ein zweiter Kolumbus” (un deuxième Colomb. En deuxième lieu, il trace l’histoire d’une “imagination poétique” et d’une “géographie mythique”, attribuées par Humboldt à Christophe Colomb.

  5. Key Facts about Higher Education in Washington. 2012

    Science.gov (United States)

    Washington Higher Education Coordinating Board, 2012

    2012-01-01

    "Key Facts about Higher Education in Washington" provides vital data to chart higher education's progress and challenges. First published in 2002 by the Washington Higher Education Coordinating Board, this annual report highlights "Key Facts" about Washington's postsecondary institutions--including faculty, students,…

  6. 76 FR 52566 - Drawbridge Operation Regulations; Anacostia River, Washington, DC

    Science.gov (United States)

    2011-08-23

    ... SECURITY Coast Guard 33 CFR Part 117 Drawbridge Operation Regulations; Anacostia River, Washington, DC... Washington, DC. This deviation will test a change to the drawbridge operation schedule to determine whether a..., SE., Washington, DC 20590-0001. (4) Hand delivery: Same as mail address above, between 9 a.m. and 5...

  7. 76 FR 52602 - Drawbridge Operation Regulation; Anacostia River, Washington, DC

    Science.gov (United States)

    2011-08-23

    ..., Washington, DC AGENCY: Coast Guard, DHS. ACTION: Notice of proposed rulemaking. SUMMARY: The Coast Guard... the Anacostia River, mile 3.4 at Washington, DC. The proposed change will alter the eight hour advance..., SE., Washington, DC 20590-0001. (4) Hand delivery: Same as mail address above, between 9 a.m. and 5...

  8. 77 FR 14968 - Drawbridge Operation Regulation; Anacostia River, Washington, DC

    Science.gov (United States)

    2012-03-14

    ..., Washington, DC AGENCY: Coast Guard, DHS. ACTION: Final rule. SUMMARY: The Coast Guard is changing the..., mile 3.4, at Washington, DC. The change will alter the eight hour advance notice requirement for a... Avenue SE., Washington, DC 20590, between 9 a.m. and 5 p.m., Monday through Friday, except...

  9. 33 CFR 117.1051 - Lake Washington Ship Canal.

    Science.gov (United States)

    2010-07-01

    ... 33 Navigation and Navigable Waters 1 2010-07-01 2010-07-01 false Lake Washington Ship Canal. 117.1051 Section 117.1051 Navigation and Navigable Waters COAST GUARD, DEPARTMENT OF HOMELAND SECURITY BRIDGES DRAWBRIDGE OPERATION REGULATIONS Specific Requirements Washington § 117.1051 Lake Washington Ship Canal. (a) When fog prevails by day or...

  10. 7 CFR 923.322 - Washington cherry handling regulation.

    Science.gov (United States)

    2010-01-01

    ... 7 Agriculture 8 2010-01-01 2010-01-01 false Washington cherry handling regulation. 923.322 Section... CHERRIES GROWN IN DESIGNATED COUNTIES IN WASHINGTON Order Regulating Handling Grade, Size, Container and Pack Regulation § 923.322 Washington cherry handling regulation. (a) Grade. No handler shall...

  11. 76 FR 16323 - Irish Potatoes Grown in Washington; Continuance Referendum

    Science.gov (United States)

    2011-03-23

    ... Agricultural Marketing Service 7 CFR Part 946 Irish Potatoes Grown in Washington; Continuance Referendum AGENCY... referendum be conducted among eligible Washington potato growers to determine whether they favor continuance of the marketing order regulating the handling of Irish potatoes grown in Washington. DATES: The...

  12. Colágeno asimilable. Fuente de prevención de enfermedades osteoarticuladas

    OpenAIRE

    Parra Parra, Yolanda; Quesada Martínez, María Inmaculada; Pérez Collado, Elisa María

    2015-01-01

    Cartel presentado en la Segunda Conferencia Internacional de Comunicación en Salud, celebrada el 23 de octubre de 2015 en la Universidad Carlos III de Madrid Introducción: El colágeno es la proteína más abundante de nuestro cuerpo humano y uno de sus componentes esencial de articulaciones, cartílago, ligamento, tendones, huesos, piel. Su especial estructura lo hacen único, presenta una estructura fibrosa, que aporta gran resistencia y flexibilidad a los tejidos de los que forma parte. Cu...

  13. Col-OSSOS: A new ugrJ taxonomy for trans-Neptunian objects

    Science.gov (United States)

    Fraser, Wesley Cristopher; Bannister, Michele T.; Marsset, Michael; Pike, Rosemary E.; Schwamb, Megan E.; Kavelaars, J. J.; Benecchi, Susan D.; Delsanti, Audrey; Lehner, Matt J.; Wang, Shiang-Yu; Thirouin, Audrey; Guilbert-Lepoutre, Aurelie; Peixinho, Nuno; Vernazza, Pierre

    2016-10-01

    The surfaces of trans-Neptunian objects (TNOs) are poorly understood. Very little has been discerned about the compositions of most small TNOs. In recent years however, some concrete knowledge about the surface colour distribution of TNOs has come to light. It is now generally accepted that small TNOs fall into at least three classes of object based on their surface colours and albedo. Despite nearly two decades of gathering TNO surface information however, a taxonomy has still not been agreed upon. From Col-OSSOS u, g, r, and J photometry, we find significantly different clustering of (u-g) colour in the optically red, dynamically cold TNOs as compared to similarly optically coloured dynamically excited TNOs. One of the goals of the Colours of the Outer Solar System Origins Survey is the development of a robust TNO taxonomy. This 4 year program which started in 2014B is simultaneously using the Gemini-North and Canada-France-Hawaii telescopes to gather near simultaneous u, g, r, and J spectral photometry of all targets in the Outer Solar System Origins Survey (OSSOS) brighter than r'=23.6 (120 expected). The focus of Col-OSSOS is completeness and consistency, with the same SNR=25 being reached in all bands, for all targets brighter than our depth limit. Col-OSSOS will provide the first brightness-complete, compositional-dynamical map of the Outer Solar System, from which key hypotheses about the Solar System's cosmogony can be tested. After an overview of the survey's design and techniques, we will present the observed colours from the first complete block. Even with just ~30 targets, the precise photometry afforded by Col-OSSOS has already revealed the existence of 3 separate TNO taxons or classes, which become obvious when their (u-g), (g-r), and (r-J) colours are considered together. In particular, the so-called cold classical TNOs, which stand out because of their dynamically quiescent orbits, while possessing similar (g-r) and (r-J) colours as other red TNOs

  14. A novel COL11A1 mutation affecting splicing in a patient with Stickler syndrome.

    Science.gov (United States)

    Kohmoto, Tomohiro; Naruto, Takuya; Kobayashi, Haruka; Watanabe, Miki; Okamoto, Nana; Masuda, Kiyoshi; Imoto, Issei; Okamoto, Nobuhiko

    2015-01-01

    Stickler syndrome is a clinically and genetically heterogeneous collagenopathy characterized by ocular, auditory, skeletal and orofacial abnormalities, commonly occurring as an autosomal dominant trait. We conducted target resequencing to analyze candidate genes associated with known clinical phenotypes from a 4-year-old girl with Stickler syndrome. We detected a novel heterozygous intronic mutation (NM_001854.3:c.3168+5G>A) in COL11A1 that may impair splicing, which was suggested by in silico prediction and a minigene assay.

  15. Influencia de pesticidas en las poblaciones de Colémbolos

    OpenAIRE

    Durán Vicente, Alberto M.

    2013-01-01

    El efecto de los insecticidas en las poblaciones de Colémbolos fue investigado en una finca de frutales en la localidad de Nitra (Eslovaquia). El estudio se hizo en dos parcelas, una en la que se aplicaron insecticidas de manera esporádica y controlada, y la otra, en la cual no se habian utilizado pesticidas desde hacía años. Los tratamientos fueron establecidos para investigar la influencia de los insectos presentes sobre y bajo la capa superficial del suelo, en la sucesión vegetal. Lo...

  16. COL-3, a chemically modified tetracycline, inhibits lipopolysaccharide-induced microglia activation and cytokine expression in the brain.

    Directory of Open Access Journals (Sweden)

    Rawan Abdulhameed Edan

    Full Text Available Microglia activation results in release of proinflammatory molecules including cytokines, which contribute to neuronal damage in the central nervous system (CNS if not controlled. Tetracycline antibiotics such as minocycline inhibit microglial activation and cytokine expression during CNS inflammation. In the present study we found that administration of chemically modified tetracycline-3 (COL-3, inhibits lipopolysaccharide (LPS-induced microglial and p38 MAPK activation, as well as the increase in TNF-α, but not IL-1β expression, in the brains of BALB/c mice. COL-3 has been described to have no antibacterial activity. We observed that COL-3 had no activity against a Gram-negative bacteria, Escherichia coli; however surprisingly, COL-3 had antibacterial activity against a Gram-positive bacteria Staphylococcus aureus, with a minimum inhibitory concentration of 1 mg/ml. Our data show that COL-3 has some antibacterial activity against S. aureus, inhibits LPS-induced neuroinflammation, and displays potential as a therapeutic agent for treatment of conditions involving CNS inflammation.

  17. COL-3, a chemically modified tetracycline, inhibits lipopolysaccharide-induced microglia activation and cytokine expression in the brain.

    Science.gov (United States)

    Edan, Rawan Abdulhameed; Luqmani, Yunus A; Masocha, Willias

    2013-01-01

    Microglia activation results in release of proinflammatory molecules including cytokines, which contribute to neuronal damage in the central nervous system (CNS) if not controlled. Tetracycline antibiotics such as minocycline inhibit microglial activation and cytokine expression during CNS inflammation. In the present study we found that administration of chemically modified tetracycline-3 (COL-3), inhibits lipopolysaccharide (LPS)-induced microglial and p38 MAPK activation, as well as the increase in TNF-α, but not IL-1β expression, in the brains of BALB/c mice. COL-3 has been described to have no antibacterial activity. We observed that COL-3 had no activity against a Gram-negative bacteria, Escherichia coli; however surprisingly, COL-3 had antibacterial activity against a Gram-positive bacteria Staphylococcus aureus, with a minimum inhibitory concentration of 1 mg/ml. Our data show that COL-3 has some antibacterial activity against S. aureus, inhibits LPS-induced neuroinflammation, and displays potential as a therapeutic agent for treatment of conditions involving CNS inflammation.

  18. Loss of Col3a1, the gene for Ehlers-Danlos syndrome type IV, results in neocortical dyslamination.

    Directory of Open Access Journals (Sweden)

    Sung-Jin Jeong

    Full Text Available It has recently been discovered that Collagen III, the encoded protein of the type IV Ehlers-Danlos Syndrome (EDS gene, is one of the major constituents of the pial basement membrane (BM and serves as the ligand for GPR56. Mutations in GPR56 cause a severe human brain malformation called bilateral frontoparietal polymicrogyria, in which neurons transmigrate through the BM causing severe mental retardation and frequent seizures. To further characterize the brain phenotype of Col3a1 knockout mice, we performed a detailed histological analysis. We observed a cobblestone-like cortical malformation, with BM breakdown and marginal zone heterotopias in Col3a1⁻/⁻ mouse brains. Surprisingly, the pial BM appeared intact at early stages of development but starting as early as embryonic day (E 11.5, prominent BM defects were observed and accompanied by neuronal overmigration. Although collagen III is expressed in meningeal fibroblasts (MFs, Col3a1⁻/⁻ MFs present no obvious defects. Furthermore, the expression and posttranslational modification of α-dystroglycan was undisturbed in Col3a1⁻/⁻ mice. Based on the previous finding that mutations in COL3A1 cause type IV EDS, our study indicates a possible common pathological pathway linking connective tissue diseases and brain malformations.

  19. Artificial Autopolyploidization Modifies the Tricarboxylic Acid Cycle and GABA Shunt in Arabidopsis thaliana Col-0

    Science.gov (United States)

    Vergara, Fredd; Kikuchi, Jun; Breuer, Christian

    2016-05-01

    Autopolyploidy is a process whereby the chromosome set is multiplied and it is a common phenomenon in angiosperms. Autopolyploidy is thought to be an important evolutionary force that has led to the formation of new plant species. Despite its relevance, the consequences of autopolyploidy in plant metabolism are poorly understood. This study compares the metabolic profiles of natural diploids and artificial autotetraploids of Arabidopsis thaliana Col-0. Different physiological parameters are compared between diploids and autotetraploids using nuclear magnetic resonance (NMR), elemental analysis (carbon:nitrogen balance) and quantitative real-time PCR (qRT-PCR). The main difference between diploid and autotetraploid A. thaliana Col-0 is observed in the concentration of metabolites related to the tricarboxylic acid cycle (TCA) and γ-amino butyric acid (GABA) shunt, as shown by multivariate statistical analysis of NMR spectra. qRT-PCR shows that genes related to the TCA and GABA shunt are also differentially expressed between diploids and autotetraploids following similar trends as their corresponding metabolites. Solid evidence is presented to demonstrate that autopolyploidy influences core plant metabolic processes.

  20. Auto-imunidade e colágeno V Autoimmunity and collagen V

    Directory of Open Access Journals (Sweden)

    Cristiane Carla de Oliveira

    2006-06-01

    Full Text Available As proteínas da matriz extracelular (MEC e seus componentes estão sendo amplamente estudados na literatura médica, assim como sua relação com o remodelamento tecidual presente nas doenças reumáticas. Neste artigo, mostramos a importância do estudo do colágeno do tipo V no entendimento da etiologia da esclerodermia, no que se refere ao desencadeamento da auto-imunidade nesta enfermidade. Estudos em nosso laboratório demonstram que a sensibilização com colágeno do tipo V em coelhos pode resultar em um modelo animal de esclerodermia. Diante destes fatos, sugerimos que pesquisas neste campo podem ser de grande valia no desenvolvimento de novas condutas terapêuticas.The extracellular matrix (ECM proteins and their components have been widely studied in medical literature, as well its relationship with the tecidual remodeling present in the rheumatic disease. In this paper we show the importance of understanding the role of type V collagen as an important trigger of rheumatic autoimmune diseases. Studies in our laboratory demonstrate that type V collagen sensibilization in rabbits, could result in an animal scleroderma model. In this way we suggested that researches in this field can be worthy in development of new therapeutic procedures.

  1. Artificial Autopolyploidization Modifies the Tricarboxylic Acid Cycle and GABA Shunt in Arabidopsis thaliana Col-0.

    Science.gov (United States)

    Vergara, Fredd; Kikuchi, Jun; Breuer, Christian

    2016-05-23

    Autopolyploidy is a process whereby the chromosome set is multiplied and it is a common phenomenon in angiosperms. Autopolyploidy is thought to be an important evolutionary force that has led to the formation of new plant species. Despite its relevance, the consequences of autopolyploidy in plant metabolism are poorly understood. This study compares the metabolic profiles of natural diploids and artificial autotetraploids of Arabidopsis thaliana Col-0. Different physiological parameters are compared between diploids and autotetraploids using nuclear magnetic resonance (NMR), elemental analysis (carbon:nitrogen balance) and quantitative real-time PCR (qRT-PCR). The main difference between diploid and autotetraploid A. thaliana Col-0 is observed in the concentration of metabolites related to the tricarboxylic acid cycle (TCA) and γ-amino butyric acid (GABA) shunt, as shown by multivariate statistical analysis of NMR spectra. qRT-PCR shows that genes related to the TCA and GABA shunt are also differentially expressed between diploids and autotetraploids following similar trends as their corresponding metabolites. Solid evidence is presented to demonstrate that autopolyploidy influences core plant metabolic processes.

  2. ATRA Signaling Regulates the Expression of COL9A1 through BMP2-WNT4-RUNX1 Pathway in Antler Chondrocytes.

    Science.gov (United States)

    Zhang, Hong-Liang; Guo, Bin; Yang, Zhan-Qing; Duan, Cui-Cui; Geng, Shuang; Wang, Kai; Yu, Hai-Fan; Yue, Zhan-Peng

    2017-09-01

    Although all-trans retinoic acid (ATRA) is involved in the regulation of cartilage growth and development, its regulatory mechanisms remain unknown. Here, we showed that ATRA could induce the expression of COL9A1 in antler chondrocytes. Silencing of cellular retinoic acid binding protein 2 (CRABP2) could impede the ATRA-induced upregulation of COL9A1, whereas overexpression of CRABP2 presented the opposite effect. RARα agonist Am80 induced the expression of COL9A1, whereas treatment with RARα antagonist Ro 41-5253 or RXRα small-interfering RNA (siRNA) caused an obvious blockage of ATRA on COL9A1. In antler chondrocytes, CYP26A1 and CYP26B1 weakened the sensitivity of ATRA to COL9A1. Simultaneously, Bone morphogenetic protein 2 (BMP2) and WNT4 mediated the regulation of ATRA on COL9A1 expression. Knockdown of WNT4 could abrogate the inhibitory effect of BMP2 overexpression on COL9A1. Conversely, constitutive expression of WNT4 reversed the upregulation of COL9A1 elicited by BMP2 siRNA. Together these data indicated that WNT4 might act downstream of BMP2 to mediate the effect of ATRA on COL9A1 expression. Further analysis evidenced that attenuation of runt-related transcription factor 1 (RUNX1) could prevent the stimulation of ATRA on COL9A1 expression, while exogenous rRUNX1 further enhanced this effectiveness. Moreover, RUNX1 might serve as an intermediate to mediate the regulation of BMP2 and WNT4 on COL9A1 expression. Collectively, ATRA signaling might regulate the expression of COL9A1 through BMP2-WNT4-RUNX1 pathway. © 2017 Wiley Periodicals, Inc.

  3. Low-temperature geothermal resources of Washington

    Energy Technology Data Exchange (ETDEWEB)

    Schuster, J.E. [Washington State Dept. of Natural Resources, Olympia, WA (United States). Div. of Geology and Earth Resources; Bloomquist, R.G. [Washington State Energy Office, Olympia, WA (United States)

    1994-06-01

    This report presents information on the location, physical characteristics, and water chemistry of low-temperature geothermal resources in Washington. The database includes 941 thermal (>20C or 68F) wells, 34 thermal springs, lakes, and fumaroles, and 238 chemical analyses. Most thermal springs occur in the Cascade Range, and many are associated with stratovolcanoes. In contrast, 97 percent of thermal wells are located in the Columbia Basin of southeastern Washington. Some 83.5 percent are located in Adams, Benton, Franklin, Grant, Walla Walla, and Yakima Counties. Yakima County, with 259 thermal wells, has the most. Thermal wells do not seem to owe their origin to local sources of heat, such as cooling magma in the Earth`s upper crust, but to moderate to deep circulation of ground water in extensive aquifers of the Columbia River Basalt Group and interflow sedimentary deposits, under the influence of a moderately elevated (41C/km) average geothermal gradient.

  4. A sensitive method for determination of COL-3, a chemically modified tetracycline, in human plasma using high-performance liquid chromatography and ultraviolet detection.

    Science.gov (United States)

    Rudek, Michelle A; Hartke, Carol; Zabelina, Yelena; Zhao, Ming; New, Pamela; Baker, Sharyn D

    2005-04-01

    COL-3, 6-deoxy-6-desmethyl-4-desdimethylamino-tetracycline, is a matrix metalloproteinase inhibitor currently in clinical development. A HPLC-UV method to quantitate COL-3 in human plasma was developed. COL-3 was extracted from plasma using solid-phase extraction cartridges. COL-3 is separated on a Waters Symmetry Shield RP8 (3.9 mm x150 mm, 5 microm) column with EDTA (0.001 M) in sodium acetate (0.01 M, pH 3.5)-acetonitrile mobile phase using a gradient profile at a flow rate of 1 ml/min for 22 min. Carryover was eliminated by using an extended needle wash of methanol:acetonitrile:dichloromethane (1:1:1, v/v/v). Detection of COL-3 and the internal standard, chrysin, was observed at 350 nm. COL-3 and chrysin elute at 8.9 and 9.9 min, respectively. The lower limit of quantitation in human plasma of COL-3 was 75 ng/ml, linearity was observed from 75 to 10,000 ng/ml. A 30,000 ng/ml sample that was diluted 1:50 with plasma was accurately quantitated. This method is rapid, widely applicable, and suitable for quantifying COL-3 in patient samples enabling further clinical pharmacology characterization of COL-3.

  5. Tetracycline analogues (doxycycline and COL-3) induce caspase-dependent and -independent apoptosis in human colon cancer cells.

    Science.gov (United States)

    Onoda, Toshinao; Ono, Takashi; Dhar, Dipok Kumar; Yamanoi, Akira; Nagasue, Naofumi

    2006-03-01

    Tetracycline analogues (TCNAs) possess cytotoxic activities as well as matrix metalloproteinase (MMP) inhibitory properties. Previously, we demonstrated that doxycycline (DOXY) could induce apoptosis in human HT29 colon cancer cells. In present study, the molecular apoptotic mechanisms induced by two kinds of TCNAs, designated as DOXY and COL-3 (chemically modified tetracycline-3; 6-demethyl, 6-deoxy, 4-dedimethylamino tetracycline), were evaluated in cultured HT29 cells. Both TCNAs inhibited the proliferation of 6 different colorectal cancer cell lines in a dose-dependent manner. Especially, COL-3 had a stronger effect on cancer cells than DOXY. Apoptotic changes were actually observed by 10 mug/ml COL-3 and 20 mug/ml DOXY in a time-dependent manner. COL-3 produced the increase in cytosolic cytochrome c and the loss of mitochondrial membrane potential after 3 hr treatment, and thereafter activated caspases. In case of DOXY, these changes were observed after 24 hr. Bax translocation was not a prerequisite for cytochrome c releasing in COL-3 treatment. Pretreated pancaspase inhibitor (Z-VAD-FMK) reduced COL-3 and DOXY mediated apoptosis up to 81.3 and 35.3%, as compared with nontreated cells, respectively. These data indicated that TCNAs could induce mitochondria-mediated apoptosis through both caspase-dependent and -independent pathway. In fact, endonuclease G and apoptosis-inducing factor were released into cytosol after the treatment of TCNAs, which indicated that caspase-independent apoptotic pathway is also one of the key mechanisms for the treatment of TCNAs. Taken together, we believe that TCNAs could have strong potentials for clinical application in treating colorectal cancers and improve cancer chemotherapy. (c) 2005 Wiley-Liss, Inc.

  6. 1,25-Dihydroxyvitamin D3 inhibition of col1a1 promoter expression in calvariae from neonatal transgenic mice

    Science.gov (United States)

    Bedalov, A.; Salvatori, R.; Dodig, M.; Kapural, B.; Pavlin, D.; Kream, B. E.; Clark, S. H.; Woody, C. O.; Rowe, D. W.; Lichtler, A. C.

    1998-01-01

    We studied the effect of 1,25-dihydroxyvitamin D3 (1,25(OH)2D3) on organ cultures of transgenic mouse calvariae containing segments of the Col1a1 promoter extending to -3518, -2297, -1997, -1794, -1763, and -1719 bp upstream of the transcription start site fused to the chloramphenicol acetyltransferase (CAT) reporter gene. 1,25(OH)2D3 had a dose-dependent inhibitory effect on the expression of the -3518 bp promoter construct (ColCAT3.6), with maximal inhibition of about 50% at 10 nM. This level of inhibition was consistent with the previously observed effect on the endogenous Col1a1 gene in bone cell models. All of the shorter constructs were also inhibited by 10 nM 1,25(OH)2D3, suggesting that the sequences required for 1, 25(OH)2D3 inhibition are downstream of -1719 bp. The inhibitory effect of 1,25(OH)2D3 on transgene mRNA was maintained in the presence of the protein synthesis inhibitor cycloheximide, suggesting that the inhibitory effect on Col1a1 gene transcription does not require de novo protein synthesis. We also examined the in vivo effect of 1,25(OH)2D3 treatment of transgenic mice on ColCAT activity, and found that 48 h treatment caused a dose-dependent inhibition of CAT activity in calvariae comparable to that observed in organ cultures. In conclusion, we demonstrated that 1,25(OH)2D3 inhibits Col1A1 promoter activity in transgenic mouse calvariae, both in vivo and in vitro. The results indicate that there is a 1, 25(OH)2D3 responsive element downstream of -1719 bp. The inhibitory effect does not require new protein synthesis.

  7. Actividad Antioxidante de extractos de Calendula officinalis asociados a soportes de colágeno tipo I

    OpenAIRE

    Flórez Cabrera, Adriana Matilde

    2014-01-01

    En este trabajo se evaluó la actividad antioxidante de los metabolitos secundarios presentes en dos extractos, oleoso e hidroglicólico, de flores de Calendula officinalis liberados de forma controlada por soportes de colágeno tipo I con micropartículas de gelatina-colágeno desarrollados mediante ingeniería de tejidos, con el fin determinar su posible aplicación en heridas cutáneas crónicas con elevadas concentraciones de especies reactivas de oxígeno. Se realizaron pruebas de citotoxicida...

  8. A novel missense mutation of COL5A2 in a patient with Ehlers–Danlos syndrome

    Science.gov (United States)

    Watanabe, Miki; Nakagawa, Ryuji; Naruto, Takuya; Kohmoto, Tomohiro; Suga, Ken-ichi; Goji, Aya; Kagami, Shoji; Masuda, Kiyoshi; Imoto, Issei

    2016-01-01

    Ehlers–Danlos syndrome (EDS) is a group of inherited connective tissue disorders characterized by hyperextensible skin, joint hypermobility and soft tissue fragility. For molecular diagnosis, targeted exome sequencing was performed on a 9-year-old male patient who was clinically suspected to have EDS. The patient presented with progressive kyphoscoliosis, joint hypermobility and hyperextensible skin without scars. Ultimately, classical EDS was diagnosed by identifying a novel, mono-allelic mutation in COL5A2 [NM_000393.3(COL5A2_v001):c.682G>A, p.Gly228Arg]. PMID:27656288

  9. A novel missense mutation of COL5A2 in a patient with Ehlers-Danlos syndrome.

    Science.gov (United States)

    Watanabe, Miki; Nakagawa, Ryuji; Naruto, Takuya; Kohmoto, Tomohiro; Suga, Ken-Ichi; Goji, Aya; Kagami, Shoji; Masuda, Kiyoshi; Imoto, Issei

    2016-01-01

    Ehlers-Danlos syndrome (EDS) is a group of inherited connective tissue disorders characterized by hyperextensible skin, joint hypermobility and soft tissue fragility. For molecular diagnosis, targeted exome sequencing was performed on a 9-year-old male patient who was clinically suspected to have EDS. The patient presented with progressive kyphoscoliosis, joint hypermobility and hyperextensible skin without scars. Ultimately, classical EDS was diagnosed by identifying a novel, mono-allelic mutation in COL5A2 [NM_000393.3(COL5A2_v001):c.682G>A, p.Gly228Arg].

  10. Avaliação da preferência alimentar em modelo de poliartrite induzida por colágeno

    OpenAIRE

    Eduarda Correa Freitas

    2014-01-01

    Introdução: Artrite reumatoide é uma doença inflamatória crônica associada a alterações no metabolismo proteico e energético. Objetivos: Investigar a preferência alimentar durante o desenvolvimento da inflamação crônica em ratas com artrite induzida por colágeno. Métodos: Ratas Wistar fêmeas foram alocadas em dois grupos: controle (CO, n=10) e artrite induzida por colágeno (CIA; n=11) e expostas simultaneamente a quatro diferentes dietas (padrão, hipercalórica, hiperlipidica e hiperproteica)....

  11. Three-dimensional modeling of fecal coliform in the Tidal Basin and Washington Channel, Washington, DC.

    Science.gov (United States)

    Bai, Sen; Lung, Wu-Seng

    2006-01-01

    Fecal coliform are widely used as bacterial indicator in the United States and around the world. Fecal coliform impaired water is highly possible to be polluted by pathogenic bacteria. The Tidal Basin and Washington Channel in Washington, DC are on the Total Maximum Daily Load (TMDL) list due to the high fecal coliform level. To support TMDL development, a three-dimensional numerical model of fecal coliform was developed using the EFDC framework. The model calculates the transport of fecal coliform under the influences of flap gate operations and tidal elevation. The original EFDC code was modified to calculate the die-off of fecal coliform under the impact of temperature and solar radiation intensity. The watershed contribution is expressed as storm water inflow and the load carried by the runoff. Model results show that fecal coliform vary strongly in space in both the Tidal Basin and Washington Channel. The storm water only impacts a small area around the storm water outfall in the Tidal Basin and the impacts are negligible in the Washington Channel due to dilution. The water from the Potomac River may affect the fecal coliform level in the area close to the flap gate in the Tidal Basin. The fecal coliform level in the Washington Channel is mainly controlled by the fecal coliform level in the Anacostia River, which is located at the open boundary of the Washington Channel. The potential sediment layer storage of fecal coliform was analyzed and it was found that the sediment layer fecal coliform level could be much higher than the water column fecal coliform level and becomes a secondary source under high bottom shear stress condition. The developed model built solid connection of fecal coliform source and concentration in the water column and has been used to develop TMDL.

  12. COOH-terminal collagen Q (COLQ) mutants causing human deficiency of endplate acetylcholinesterase impair the interaction of ColQ with proteins of the basal lamina.

    Science.gov (United States)

    Arredondo, Juan; Lara, Marian; Ng, Fiona; Gochez, Danielle A; Lee, Diana C; Logia, Stephanie P; Nguyen, Joanna; Maselli, Ricardo A

    2014-05-01

    Collagen Q (ColQ) is a key multidomain functional protein of the neuromuscular junction (NMJ), crucial for anchoring acetylcholinesterase (AChE) to the basal lamina (BL) and accumulating AChE at the NMJ. The attachment of AChE to the BL is primarily accomplished by the binding of the ColQ collagen domain to the heparan sulfate proteoglycan perlecan and the COOH-terminus to the muscle-specific receptor tyrosine kinase (MuSK), which in turn plays a fundamental role in the development and maintenance of the NMJ. Yet, the precise mechanism by which ColQ anchors AChE at the NMJ remains unknown. We identified five novel mutations at the COOH-terminus of ColQ in seven patients from five families affected with endplate (EP) AChE deficiency. We found that the mutations do not affect the assembly of ColQ with AChE to form asymmetric forms of AChE or impair the interaction of ColQ with perlecan. By contrast, all mutations impair in varied degree the interaction of ColQ with MuSK as well as basement membrane extract (BME) that have no detectable MuSK. Our data confirm that the interaction of ColQ to perlecan and MuSK is crucial for anchoring AChE to the NMJ. In addition, the identified COOH-terminal mutants not only reduce the interaction of ColQ with MuSK, but also diminish the interaction of ColQ with BME. These findings suggest that the impaired attachment of COOH-terminal mutants causing EP AChE deficiency is in part independent of MuSK, and that the COOH-terminus of ColQ may interact with other proteins at the BL.

  13. Investigation on Painting Materials in "Madonna col Bambino e S. Giovannino" by Botticelli

    Science.gov (United States)

    Bersani, D.; Lottici, P. P.; Casoli, A.; Ferrari, M.; Lottini, S.; Cauzzi, D.

    A study on the painting materials (pigments and binders) of the famous painting "Madonna col Bambino e S. Giovannino" by Sandro Botticelli, located in the Museo Civico of Piacenza (Italy), was performed before a recent restoration. The painting materials were investigated by the analysis of five millimetric samples taken in damaged regions. The pigments were determined using the micro-Raman spectroscopy, with the 632.8nm line of a He-Ne laser. Despite the strong fluorescence background, the nature of the ground layer (gypsum and anhydrite) and of most pigments (i.e. goethite, lapis lazuli, white lead) was determined. Gas chromatography coupled with mass spectroscopy (GC/MS) was used to determine the organic binder media, and in particular proteinaceous and lipid materials. Egg and animal glue were found, while no siccative oils were detected.

  14. Mutation-based growth charts for SEDC and other COL2A1 related dysplasias

    DEFF Research Database (Denmark)

    Terhal, Paulien A; van Dommelen, Paula; Le Merrer, Martine

    2012-01-01

    patients with glycine substitutions in the triple-helical domain of COL2A1. In addition, measurements of 27 patients with other molecular defects, such as arginine to cysteine substitutions, splice mutations, and mutations in the C-terminal propeptide have been plotted on the chart. Height of the patients...... progressively deviate from that of normal children: compared to normal WHO charts, the mean length/height is -2.6 SD at birth, -4.2 SD at 5 years, and -5.8 SD in adulthood. The mean adult height (male and female combined) of patients with glycine substitutions in the triple-helical region is 138.2 cm...... with amino-terminal substitutions, while patients with splice mutations are relatively tall. However, there are exceptions and specific mutations can have a strong or a relatively mild negative effect on growth. The observation of significant difference in adult height between affected members of the same...

  15. Phase-resolved Spectroscopy of the Intermediate Polars -- TV Col and V1223 Sgr

    Science.gov (United States)

    Long, K.

    The cataclysmic variables called intermediate polars are characterized by magnetic fields that rip material from an accretion disk and funnel it to a WD that is not phase-locked to the binary period of the system. This is a proposal to use FUSE to conduct a time-resolved spectroscopic study to dissect the emission of two long-period intermediate polars, V1223 Sgr and TV Col, with very different inclination angles. These, along with the short-period high-inclination IP EX Hya (already observed with FUSE), comprise the only IPs with accurate distances derived from HST astrometry. We will isolate emission from the photosphere of the WD, the magnetically dominated accretion curtain, and the accretion stream. Having characterized the emission sources, we will explore the physical conditions in these same regions, and develop an integrated picture of these two intermediate polars.

  16. Detecten Hepatozoon sp. en una colònia felina de Barcelona

    OpenAIRE

    Ortuño Romero, Anna M.

    2009-01-01

    En un estudi realitzat pel Departament de Sanitat i Anatomia Animals de la Facultat de Veterinària de la UAB, amb el suport del Servei de Salut Pública de la Diputació de Barcelona, s’ha detectat la presència d’Hepatozoon sp. en colònies de gats de carrer. Un fet important donat que és el primer cop que aquests paràsits intracel·lulars són identificats en felins del nord d’Espanya, i perquè, a més a més, evidencia la importància d’establir programes sanitaris que permetin detectar i controlar...

  17. Management of choledochal cyst Tratamento do cisto de colédoco

    Directory of Open Access Journals (Sweden)

    Orlando Jorge Martins Torres

    2007-09-01

    Full Text Available BACKGROUND: Choledochal cysts are rare diseases in adults. The risk of malignant transformation is well documented to be age-related and early complete cyst excision is currently advocated. Type IVa cyst management is more controversial. Extensive intrahepatic involvement of the biliary system may preclude complete excision. AIM: The aim of this study was to present a case of type IVa choledochal cyst in a young female patient. CASE REPORT: An 18-year-old female, complaining of right upper quadrant pain, nausea, vomiting, fever, and jaundice was admitted. The diagnosis of type IVa choledochal cyst was made by computerized tomography. The patient was underwent cholecystectomy, excision of the anterior wall of the cyst, and Roux-en-Y hepaticojejunostomy. No postoperative complication was noted and the patient was discharged five days after operation. CONCLUSION: Total cyst excision is the ideal treatment of choledochal cysts in adults. However, in IVa type, due to the extensive intrahepatic involvement of the biliary system, the anatomy of the cyst, and the surgeon's judgment will determine the surgical approach taken for the patient.RACIONAL: A doença de cistos de colédoco em adultos é rara. O risco de transformação maligna é bem documentado, sendo relacionado a idade, além da completa excisão do cisto ser aconselhada. O manuseio e gestão do cisto tipo IVa gera maior controvérsia. O envolvimento intra-hepático extensivo do sistema biliar pode prevenir a sua completa excisão. OBJETIVOS: Relatar o caso de um cisto de colédoco do tipo IVa em paciente feminina. RELATO DE CASO: Paciente feminina, 18 anos de idade, foi admitida com queixa de dor no quadrante superior direito, náusea, vômitos, febre e icterícia. O diagnóstico de cisto de colédoco do tipo IVa foi realizado através de tomografia computadorizada. A paciente foi submetida à colecistectomia, excisão da parede anterior do cisto e hepatojejunostomia em Y-de-Roux. Nenhuma

  18. Aberrations of 6q13 mapped to the COL12A1 locus in chondromyxoid fibroma.

    Science.gov (United States)

    Yasuda, Taketoshi; Nishio, Jun; Sumegi, Janos; Kapels, Kayla M; Althof, Pamela A; Sawyer, Jeffrey R; Reith, John D; Bridge, Julia A

    2009-11-01

    Chondromyxoid fibroma, a rare benign bone tumor, may be mistaken for chondrosarcoma. Although cytogenetic studies of chondromyxoid fibroma are few, rearrangements of the long arm of chromosome 6, frequently expressed as an inv(6)(p25q13), are prominent. In this study, conventional cytogenetic analysis of 16 chondromyxoid fibroma samples from 14 patients revealed rearrangements of chromosome 6 in 10 of 11 clonally abnormal specimens. In addition to 6q13 rearrangements, recurrent 6p25 and 6q25 anomalies were detected. Notably, an identical t(6;9)(q25;q22) translocation was identified in two cases, suggesting that it represents a distinct translocation of chondromyxoid fibroma. In an effort to further define the aberrant 6q13 breakpoint and identify the molecular consequences, a fluorescence in situ hybridization (FISH)-based positional cloning strategy on chondromyxoid fibroma abnormal metaphase and interphase cells using a series of bacterial and plasmid artificial chromosome (BAC/PAC) probe combinations spanning a 6.1 Mb region was employed. The breakpoint on 6q13 was located within the COL12A1 gene, a collagen gene purportedly involved in another benign bone tumor, subungual exostosis. The findings of this study expand our knowledge of chromosomal alterations in chondromyxoid fibroma, identify COL12A1 as the likely gene candidate within the recurrent 6q13 breakpoint, and provide an alternative approach for detecting 6q13 anomalies in nondividing cells of chondromyxoid fibroma. The latter could potentially be utilized as an adjunct in diagnostically challenging cases.

  19. 一成骨不全家系的COL1A1基因突变检测%Mutation Detection of COL1A1 Gene in a Pedigree with Osteogenesis Imperfecta

    Institute of Scientific and Technical Information of China (English)

    秦炜; 何隽祥; 施瑾; 邢清和; 高建军; 钱学庆; 刘壮俊; 舒安利; 贺林

    2005-01-01

    成骨不全(Osteogenesis imperfecta,OI)是一种由于Ⅰ型胶原形成障碍,导致骨脆性增强为主要症状的常染色体显性遗传性疾病.临床上主要表现为骨质脆弱、蓝巩膜、耳聋和中等程度的关节畸形等症状.成骨不全基因分别定位于17q21.31-q22和7q22.1,其致病基因分别为COL1A1和COL1A2.对一常染色体显性遗传的成骨不全家系进行连锁分析,在COL1A1遗传位点发现紧密连锁(LOD=9.31;θ=.00).突变检测发现在COL1A1基因第26内含子5′端剪接位点处存在一由GT转换为AT的致病突变,该突变引起的异常剪接是导致成骨不全的致病原因之一.%Osteogenesis imperfecta(OI)is heritable bone fragility,which is inherited as an autosomal dominant trait clinical presentation.Clinical symptom,in general,is dominantly inherited OI with blue sclerae,hearing loss and mild-moderate skeletal deformity.Genetic loci of OI have been mapped to17q21.31-q22 and 7q22.1,in which COL1A1 and COL1A2 are known to be the causal genes.In this work,we performed linkage analysis in a kindred with autosomal dominant hereditary OI.A tight linkage to the markers on chromosome 17q21.31-q22 (maximum two-point lod score:9.31 at θ=.00) was observed.Sequence analysis of COL1A1 revealed a single-base mutation that converted the consensus sequence at the 5′end of intron 26 from GT to AT to form an abnormal splicing site leading to OI.

  20. REFORMASI EKONOMI, KONSENSUS WASHINGTON, DAN RINTANGAN POLITIK

    Directory of Open Access Journals (Sweden)

    Ahmad Erani Yustika

    2004-01-01

    Full Text Available In the practice of policy reform, the new thinking in development theorizing found its expression in the formulation of the so-called Washington Consensus. Triggered by widespread government failures, the Washington Consensus is based on stabilization-cum-adjustment policies recommended by the Bretton Woods organizations and US economic officials. It emphasizes the need for prudent macroeconomic and financial policies, unified and competitive exchange rates, trade and financial liberalization, privatization, and deregulation. However, because of neglecting political domain, the running of economic reform resulted a deeper economic crisis. Beside, in the implementation phase, economic reform process often meet political barriers. At least three political barriers often fail economic reform program. First, collective action problems arise to the extent that economic reforms have the properties of a public good, either for the society as a whole or for a large number of potential beneficiaries. Second, In a distributive model, policy reform is supported by winners and opposed by losers, and the outcome is given by the balance of political power between the respective action. Third, one classic problem with many reforms is that the costs of reform tend to be concentrated, while benefits are diffuse, producing perverse organizational incentives (Haggard dan Kaufman, 1995:156-157. Argentina and Mexico cases show that economic reform can failure due to polical barriers. Abstract in Bahasa Indonesia : Dalam pelaksanaan kebijakan reformasi, teori pembangunan mutakhir telah menemukan konsep baru yang diformulasikan dalam istilah yang biasa disebut dengan Konsensus Washington. Dipicu oleh kegagalan pemerintah yang semakin meluas dalam mengelola kegiatan ekonomi, konsep Konsensus Washington berpijak pada upaya stabilisasi melalui kebijakan penyesuaian struktural, yang direkomendasikan oleh organisasi Bretton Woods dan Badan Ekonomi Amerika Serikat

  1. Frequency of COL4A3/COL4A4 mutations amongst families segregating glomerular microscopic hematuria and evidence for activation of the unfolded protein response. Focal and segmental glomerulosclerosis is a frequent development during ageing.

    Directory of Open Access Journals (Sweden)

    Louiza Papazachariou

    Full Text Available Familial glomerular hematuria(s comprise a genetically heterogeneous group of conditions which include Alport Syndrome (AS and thin basement membrane nephropathy (TBMN. Here we investigated 57 Greek-Cypriot families presenting glomerular microscopic hematuria (GMH, with or without proteinuria or chronic kidney function decline, but excluded classical AS. We specifically searched the COL4A3/A4 genes and identified 8 heterozygous mutations in 16 families (28,1%. Eight non-related families featured the founder mutation COL4A3-p.(G1334E. Renal biopsies from 8 patients showed TBMN and focal segmental glomerulosclerosis (FSGS. Ten patients (11.5% reached end-stage kidney disease (ESKD at ages ranging from 37-69-yo (mean 50,1-yo. Next generation sequencing of the patients who progressed to ESKD failed to reveal a second mutation in any of the COL4A3/A4/A5 genes, supporting that true heterozygosity for COL4A3/A4 mutations predisposes to CRF/ESKD. Although this could be viewed as a milder and late-onset form of autosomal dominant AS, we had no evidence of ultrastructural features or extrarenal manifestations that would justify this diagnosis. Functional studies in cultured podocytes transfected with wild type or mutant COL4A3 chains showed retention of mutant collagens and differential activation of the unfolded protein response (UPR cascade. This signifies the potential role of the UPR cascade in modulating the final phenotype in patients with collagen IV nephropathies.

  2. OsCOL10, a CONSTANS-Like Gene, Functions as a Flowering Time Repressor Downstream of Ghd7 in Rice.

    Science.gov (United States)

    Tan, Junjie; Jin, Mingna; Wang, Jiachang; Wu, Fuqing; Sheng, Peike; Cheng, Zhijun; Wang, Jiulin; Zheng, Xiaoming; Chen, Liping; Wang, Min; Zhu, Shanshan; Guo, Xiuping; Zhang, Xin; Liu, Xuanming; Wang, Chunming; Wang, Haiyang; Wu, Chuanyin; Wan, Jianmin

    2016-04-01

    Flowering time, or heading date, is a critical agronomic trait that determines the cropping season and regional adaptability, and ultimately grain yield in rice. A number of genes involved in photoperiodic flowering have been cloned and their roles in modulating expression of the flowering genes have been characterized to a certain extent. However, much less is known about the pathway in transmitting the day length response signal(s) to induce transition to reproductive growth. Here, we report a constitutive flowering repressor OsCOL10, which encodes a member of the CONSTANS-like (COL) family. Transgenic rice plants overexpressing OsCOL10 (driven by a strong promoter or by fusing it to the activation domain of VP64) showed delayed flowering time under both short and long days.OsCOL10 is affected by the circadian clock and is preferentially expressed in leaf mesophyll cells; it is localized to the nucleus and has transcriptional activation activity. Further studies show that OsCOL10 represses the expression of theFT-like genes RFT1 and Hd3a through Ehd1. Transcripts of OsCOL10 are more abundant in plants carrying a functional Ghd7 allele or overexpressing Ghd7 than in Ghd7-deficient plants, thus placing OsCOL10 downstream of Ghd7.Taking these findings together, we conclude that OsCOL10 functions as a flowering time repressor that links Ghd7 and Ehd1 in rice.

  3. Socrates in Washington, D.C.

    Science.gov (United States)

    2008-08-01

    mission.” Illustration by Jim Elmore P R O G R A M M A N A G E M E N T P H I L O S O P H Y Socrates in Washington, D.C. Maj. Dan Ward, USAF 1...status quo. “But counter to what you may have heard, turkeys don’t fear change. No, no. In fact, they love it. What they fear is criticism, so they come...sang at the top of his voice. The song was a surprisingly up-tempo rendition of Send In The Clowns . It didn’t sound half bad. Among the bronze figures

  4. Water resources of Washington Parish, Louisiana

    Science.gov (United States)

    White, Vincent E.; Prakken, Lawrence B.

    2016-06-13

    Information concerning the availability, use, and quality of water in Washington Parish, Louisiana, is critical for proper water-resource management. The purpose of this fact sheet is to present information that can be used by water managers, parish residents, and others for stewardship of this vital resource. Information on the availability, past and current use, use trends, and water quality from groundwater and surface-water sources in the parish is presented. Previously published reports and data stored in the U.S. Geological Survey’s National Water Information System (http://waterdata.usgs.gov/nwis) are the primary sources of the information presented here.

  5. Landslide Hazards in the Seattle, Washington, Area

    Science.gov (United States)

    Baum, Rex; Harp, Ed; Highland, Lynn

    2007-01-01

    The Seattle, Washington, area is known for its livability and its magnificent natural setting. The city and nearby communities are surrounded by an abundance of rivers and lakes and by the bays of Puget Sound. Two majestic mountain ranges, the Olympics and the Cascades, rim the region. These dramatic natural features are products of dynamic forces-landslides, earthquakes, tsunamis, glaciers, volcanoes, and floods. The same processes that formed this beautiful landscape pose hazards to the ever-growing population of the region. Landslides long have been a major cause of damage and destruction to people and property in the Seattle area.

  6. Capitol Lake, Washington, 2004 data summary

    Science.gov (United States)

    Eshleman, Jodi; Ruggiero, Peter; Kingsley, Etienne; Gelfenbaum, Guy; George, Doug

    2006-01-01

    At the request of the Washington Department of Ecology (WDOE), the US Geological Survey (USGS) collected bathymetry data in Capital Lake, Olympia, Wash., on September 21, 2004. The data are to be used to calculate sediment infilling rates within the lake as well as for developing the bottom boundary conditions for numerical models of water quality, sediment transport, and morphological change. In addition, the USGS collected sediment samples in Capitol Lake in February, 2005, to help characterize bottom sediment for numerical model calculations and substrate assessment.

  7. Autosomal dominant rhegmatogenous retinal detachment associated with an Arg453Ter mutation in the COL2A1 gene.

    NARCIS (Netherlands)

    Go, S.L.; Maugeri, A.; Mulder, J.J.S.; Driel, M.A. van; Cremers, F.P.M.; Hoyng, C.B.

    2003-01-01

    PURPOSE: To investigate the clinical features and molecular causes of autosomal dominant rhegmatogenous retinal detachment (RRD) in two large families. METHODS: Clinical examination and linkage analysis of both families using markers flanking the COL2A1 gene associated with Stickler syndrome type 1,

  8. Localized and generalized forms of blistering in junctional epidermolysis bullosa due to COL17A1 mutations in the Netherlands

    NARCIS (Netherlands)

    Pasmooij, A. M. G.; Pas, H. H.; Jansen, G. H. L.; Lemmink, H. H.; Jonkman, M. F.

    2007-01-01

    Background Mutations in the gene COL17A1 coding for type XVII collagen cause non-Herlitz junctional epidermolysis bullosa (nH-JEB). Objectives Here we give an overview of the genotype-phenotype correlation in 12 patients from the Netherlands with type XVII collagen-deficient nH-JEB. Patient and meth

  9. Asymptomatic parental mosaicism for osteogenesis imperfecta associated with a new splice site mutation in COL1A2

    OpenAIRE

    2016-01-01

    Key Clinical Message Recurrent lethal perinatal osteogenesis imperfecta may result from asymptomatic parental mosaicism. A previously unreported mutation in COL1A2 leads to recurrent cases of fetal osteogenesis imperfecta Sillence type IIA, which emphasizes the importance of clinical and genetic evaluation of mosaicism in asymptomatic parents as verified mosaicism highly increases recurrence risk.

  10. Mutations in the codon for a conserved arginine-1563 in the COL4A5 collagen gene in Alport syndrome

    DEFF Research Database (Denmark)

    Zhou, J; Gregory, M C; Hertz, Jens Michael

    1993-01-01

    We have screened 110 unrelated Alport syndrome kindreds for mutations in the exon 48 region of the COL4A5 collagen gene. Denaturing gradient gel electrophoresis (DGGE) of the PCR-amplified region of exon 48 revealed sequence variants in DNA from affected males and carriers of three unrelated kind...

  11. EHLERS-DANLOS SYNDROME TYPE-IV - PHENOTYPIC CONSEQUENCES OF A SPLICING MUTATION IN ONE COL3A1 ALLELE

    NARCIS (Netherlands)

    SILLENCE, DO; CHIODO, AA; CAMPBELL, PE; COLE, WG

    1991-01-01

    The features of a child with Ehlers-Danlos syndrome type IV (EDS IV) resulting from a mutation in one COL3A1 allele were studied. The child was heterozygous for a G- to A-transition at the splice donor site of intron 41. It resulted in the splicing out of the exon 41 encoded sequence from alpha-1(II

  12. Asymptomatic parental mosaicism for osteogenesis imperfect associated with a new splice site mutation in COL1A2

    DEFF Research Database (Denmark)

    Frederiksen, Anja Lisbeth; Dunø, Morten; Johnsen, Iben Birgit Gade;

    2016-01-01

    Recurrent lethal perinatal osteogenesis imperfecta may result from asymptomatic parental mosaicism. A previously unreported mutation in COL1A2 leads to recurrent cases of fetal osteogenesis imperfecta Sillence type IIA, which emphasizes the importance of clinical and genetic evaluation of mosaicism...... in asymptomatic parents as verified mosaicism highly increases recurrence risk....

  13. Stickler syndrome caused by COL2A1 mutations: genotype-phenotype correlation in a series of 100 patients

    DEFF Research Database (Denmark)

    Hoornaert, Kristien P; Vereecke, Inge; Dewinter, Chantal

    2010-01-01

    found more frequently in patients with a COL2A1 mutation compared with the mutation-negative group (P90% of the mutations were predicted to result in nonsense-mediated decay. On the basis of binary regression analysis, we developed a scoring system that may be useful when evaluating patients...

  14. A cryptic balanced translocation involving COL1A2 gene disruption cause a rare type of osteogenesis imperfecta.

    Science.gov (United States)

    Xu, Xiao-Jie; Lv, Fang; Liu, Yi; Wang, Jian-Yi; Song, Yu-Wen; Asan; Wang, Jia-Wei; Song, Li-Jie; Jiang, Yan; Wang, Ou; Xia, Wei-Bo; Xing, Xiao-Ping; Li, Mei

    2016-09-01

    Osteogenesis imperfecta (OI) is a group of hereditary disorders characterized by low bone mass and recurrent fractures. Most OI cases follow an autosomal dominant pattern of inheritance and are attributed to mutations in genes encoding type I collagen (COL1A1/COL1A2). Genomic structural variations involving type I collagen genes are extremely rare in OI. In this study, we characterized a de novo balanced translocation of t(5;7)(q32;q21.3) that caused an extremely rare type of OI in a patient from a non-consanguineous family. The clinical phenotypes of this OI included recurrent fractures, low bone mass, macrocephaly, blue sclera and failure to thrive. Next-generation sequencing was used to identify the translocation, and Sanger sequencing was used to validate and map the breakpoints. The breakpoint on chromosome 7 disrupted the COL1A2 gene in the 17th exon, presumed to affect type I collagen production and give rise to OI. The breakpoint on chromosome 5 disrupted the protein phosphatase 2 regulatory subunit B, beta gene (PPP2R2B) within the first intron. This is the first report of a copy-neutral structural variant involving COL1A2 that leads to a rare type of OI. This study expands the genotypic spectrum of OI and demonstrates the effectiveness of targeted sequencing for breakpoint mapping. Copyright © 2016 Elsevier B.V. All rights reserved.

  15. Mobilization properties of small ColE1-like plasmids carrying kanamycin resistance gene isolated from Salmonella enterica serotypes

    Science.gov (United States)

    Background: Previously we isolated and characterized various groups of small kanamycin resistance (KanR) ColE1-like plasmids from different serotypes of Salmonella enterica isolates. These plasmids all carried the aph(3)-I gene encoding the aminoglycoside phosphotransferase responsible for the kanam...

  16. Molecular characterization of CONSTANS-Like (COL) genes in banana (Musa acuminata L. AAA Group, cv. Grand Nain).

    Science.gov (United States)

    Chaurasia, Akhilesh Kumar; Patil, Hemant Bhagwan; Azeez, Abdul; Subramaniam, Vadakanthara Ramakrishnan; Krishna, Bal; Sane, Aniruddha Prafullachandra; Sane, Prafullachandra Vishnu

    2016-01-01

    The CONSTANS (CO) family is an important regulator of flowering in photoperiod sensitive plants. But information regarding their role in day neutral plants is limited. We report identification of nine Group I type CONSTANS-like (COL) genes of banana and their characterization for their age dependent, diurnal and tissue-specific expression. Our studies show that the Group I genes are conserved in structure to members in other plants. Expression of these genes shows a distinct circadian regulation with a peak during light period. Developmental stage specific expression reveals high level transcript accumulation of two genes, MaCOL3a and MaCOL3b, well before flowering and until the initiation of flowering. A decrease in their transcript levels after initiation of flowering is followed by an increase in transcription of other members that coincides with the continued development of the inflorescence and fruiting. CO binding cis-elements are observed in at least three FT -like genes in banana suggesting possible CO-FT interactions that might regulate flowering. Distinct tissue specific expression patterns are observed for different family members in mature leaves, apical inflorescence, bracts, fruit skin and fruit pulp suggesting possible roles other than flowering. This is the first exhaustive study of the COL genes belonging to Group I of banana.

  17. Localized and generalized forms of blistering in junctional epidermolysis bullosa due to COL17A1 mutations in the Netherlands

    NARCIS (Netherlands)

    Pasmooij, A. M. G.; Pas, H. H.; Jansen, G. H. L.; Lemmink, H. H.; Jonkman, M. F.

    Background Mutations in the gene COL17A1 coding for type XVII collagen cause non-Herlitz junctional epidermolysis bullosa (nH-JEB). Objectives Here we give an overview of the genotype-phenotype correlation in 12 patients from the Netherlands with type XVII collagen-deficient nH-JEB. Patient and

  18. University of Washington Center for Child Environmental Health Risks Research

    Data.gov (United States)

    Federal Laboratory Consortium — The theme of the University of Washington based Center for Child Environmental Health Risks Research (CHC) is understanding the biochemical, molecular and exposure...

  19. Social Marketing and the "New" Technology: Proceedings of a Washington Roundtable (Washington, DC, March 25, 1998).

    Science.gov (United States)

    Academy for Educational Development, Washington, DC.

    This document examines some of the key issues raised during the second Washington Roundtable on Social Marketing, convened by the Academy for Educational Development (AED) in 1998. AED invited participants to examine whether the interactive technologies that are revolutionizing commercial marketing--personal computers, the Internet (especially the…

  20. One Novel Frameshift Mutation on Exon 64 of COL7A1 Gene in an Iranian Individual Suffering Recessive Dystrophic Epidermolysis Bullosa.

    Science.gov (United States)

    Khaniani, Mahmoud Shekari; Sohrabi, Nasrin; Derakhshan, Neda Mansoori; Derakhshan, Sima Mansoori

    2015-01-01

    Recessive dystrophic epidermolysis bullosa (RDEB) is an extremely rare subtype of bullous dermatosis caused by the COL7A1 gene mutation. After genomic DNA extraction from the peripheral blood sample of all subjects (3 pedigree members and 3 unrelated control individuals), COL7A1 gene screening was performed by PCR amplification and direct DNA sequencing of all of the coding exons and flanking intronic regions. Genetic analysis of the COL7A1 gene in an affected individual revealed a novel mutation: c.5493delG (p.K1831Nfs*10) in exon 64 of the COL7A1 gene in homozygous state. This mutation was not discovered in 3 unrelated Iranian control individuals. These data suggest that c.5493delG may influence the phenotype of RDEB. The result of this case report contributes to the expanding database on COL7A1 mutations.

  1. Control del colapso del colágeno: desproteinización Control of the collagen network collapse: collagen remoral

    Directory of Open Access Journals (Sweden)

    E Osario Ruiz

    2004-06-01

    Full Text Available La penetración de la resina y su reacción con los componentes de los tejidos dentales desmineralizados es el mecanismo micromecánico con el cual los materiales restauradores de resina se unen al diente. Los monómeros penetran en la dentina acondicionada y se concentran en la región superficial contribuyendo a la unión. El refuerzo de esta zona con resina se conoce como hibridación, e implica la impregnación de la red de colágeno y el encapsulamiento de los cristales de hidroxiapatita. Han surgido dudas en cuanto a la contribución de la red de colágeno en el ensamblaje de la unión y en la fuerza interfacial, ya que el aumento del grosor de la red de colágeno no aumenta dicha fuerza y la remoción del colágeno con hipoclorito sódico al 5% en solución acuosa da valores similares de fuerza a los que se obtienen cuando la red de colágeno está presenteResin penetration into and its reaction with the components of conditioned, mineralised dental tissues is known to be the fundamental micromechanical mechanism by which restorative materials can be successfully bonded to teeth. Monomers penetrated into conditioned dentin and concentrated in a superficial region of resin-reinforced dentin contributing significantly to the bond. The reinforcement, known as hybridization, involved impregnation, co-mingling and envelopment of collagen bundles and encapsulation of hydroxyapatite crystallites. A doubt raised concerning the quantitative contribution which the collagen network made to interfacial bond strength. lncreasing the thickness of the collagen network did not influence the assembly strength, and removal of the collagen with 5% sodium hypochlorite provided similar values to those recorded when the network was present.

  2. Novel PAX9 and COL1A2 missense mutations causing tooth agenesis and OI/DGI without skeletal abnormalities.

    Directory of Open Access Journals (Sweden)

    Shih-Kai Wang

    Full Text Available Inherited dentin defects are classified into three types of dentinogenesis imperfecta (DGI and two types of dentin dysplasia (DD. The genetic etiology of DD-I is unknown. Defects in dentin sialophosphoprotein (DSPP cause DD type II and DGI types II and III. DGI type I is the oral manifestation of osteogenesis imperfecta (OI, a systemic disease typically caused by defects in COL1A1 or COL1A2. Mutations in MSX1, PAX9, AXIN2, EDA and WNT10A can cause non-syndromic familial tooth agenesis. In this study a simplex pattern of clinical dentinogenesis imperfecta juxtaposed with a dominant pattern of hypodontia (mild tooth agenesis was evaluated, and available family members were recruited. Mutational analyses of the candidate genes for DGI and hypodontia were performed and the results validated. A spontaneous novel mutation in COL1A2 (c.1171G>A; p.Gly391Ser causing only dentin defects and a novel mutation in PAX9 (c.43T>A; p.Phe15Ile causing hypodontia were identified and correlated with the phenotypic presentations in the family. Bone radiographs of the proband's dominant leg and foot were within normal limits. We conclude that when no DSPP mutation is identified in clinically determined isolated DGI cases, COL1A1 and COL1A2 should be considered as candidate genes. PAX9 mutation p.Phe15Ile within the N-terminal β-hairpin structure of the PAX9 paired domain causes tooth agenesis.

  3. Identification and molecular characterization of two novel mutations in COL1A2 in two Chinese families with osteogenesis imperfecta

    Institute of Scientific and Technical Information of China (English)

    Zhenping Xu; Yulei Li; Xiangyang Zhang; Fanming Zeng; Mingxiong Yuan; Mugen Liu; Qing Kenneth Wang; Jing Yu Liu

    2011-01-01

    Osteogenesis imperfecta (OI, also known as brittle bone disease) is caused mostly by mutations in two type Ⅰ collagen genes, COL1A1 and COL1A2 encoding the pro-α1 (Ⅰ) and pro-α2 (Ⅰ) chains of type Ⅰ collagen, respectively. Two Chinese families with autosomal dominant OI were identified and characterized. Linkage analysis revealed linkage of both families to COL1A2 on chromosome 7q21.3-q22.1. Mutational analysis was carried out using direct DNA sequence analysis. Two novel missense mutations, c.3350A>G and c.3305G>C, were identified in exon 49 of COL1A2 in the two families, respectively. The c.3305G>C mutation resulted in substitution of a glycine residue (G) by an alanine residue (A) at codon 1102 (p.G1102A), which was found to be mutated into serine (S), argine (R), aspartic acid (D), or valine (V) in other families. The c.3350A>G variant may be a de novo mutation resulting in p.Y1117C. Both mutations co-segregated with OI in respective families, and were not found in 100 normal controls. The G1102 and Y1117 residues were evolutionarily highly conserved from zebrafish to humans. Mutational analysis did not identify any mutation in the COX-2 gene (a modifier gene of OI). This study identifies two novel mutations p.G1102A and p.Y1117C that cause OI, significantly expands the spectrum of COL1A2 mutations causing OI, and has a significant implication in prenatal diagnosis of OI.

  4. Knockdown of col22a1 gene in zebrafish induces a muscular dystrophy by disruption of the myotendinous junction.

    Science.gov (United States)

    Charvet, Benjamin; Guiraud, Alexandre; Malbouyres, Marilyne; Zwolanek, Daniela; Guillon, Emilie; Bretaud, Sandrine; Monnot, Catherine; Schulze, Jörg; Bader, Hannah L; Allard, Bruno; Koch, Manuel; Ruggiero, Florence

    2013-11-01

    The myotendinous junction (MTJ) is the major site of force transfer in skeletal muscle, and defects in its structure correlate with a subset of muscular dystrophies. Col22a1 encodes the MTJ component collagen XXII, the function of which remains unknown. Here, we have cloned and characterized the zebrafish col22a1 gene and conducted morpholino-based loss-of-function studies in developing embryos. We showed that col22a1 transcripts localize at muscle ends when the MTJ forms and that COLXXII protein integrates the junctional extracellular matrix. Knockdown of COLXXII expression resulted in muscular dystrophy-like phenotype, including swimming impairment, curvature of embryo trunk/tail, strong reduction of twitch-contraction amplitude and contraction-induced muscle fiber detachment, and provoked significant activation of the survival factor Akt. Electron microscopy and immunofluorescence studies revealed that absence of COLXXII caused a strong reduction of MTJ folds and defects in myoseptal structure. These defects resulted in reduced contractile force and susceptibility of junctional extracellular matrix to rupture when subjected to repeated mechanical stress. Co-injection of sub-phenotypic doses of morpholinos against col22a1 and genes of the major muscle linkage systems showed a synergistic gene interaction between col22a1 and itga7 (α7β1 integrin) that was not observed with dag1 (dystroglycan). Finally, pertinent to a conserved role in humans, the dystrophic phenotype was rescued by microinjection of recombinant human COLXXII. Our findings indicate that COLXXII contributes to the stabilization of myotendinous junctions and strengthens skeletal muscle attachments during contractile activity.

  5. Molecular evolution and phylogenetic analysis of eight COL superfamily genes in group I related to photoperiodic regulation of flowering time in wild and domesticated cotton (Gossypium) species.

    Science.gov (United States)

    Zhang, Rui; Ding, Jian; Liu, Chunxiao; Cai, Caiping; Zhou, Baoliang; Zhang, Tianzhen; Guo, Wangzhen

    2015-01-01

    Flowering time is an important ecological trait that determines the transition from vegetative to reproductive growth. Flowering time in cotton is controlled by short-day photoperiods, with strict photoperiod sensitivity. As the CO-FT (CONSTANS-FLOWER LOCUS T) module regulates photoperiodic flowering in several plants, we selected eight CONSTANS genes (COL) in group I to detect their expression patterns in long-day and short-day conditions. Further, we individually cloned and sequenced their homologs from 25 different cotton accessions and one outgroup. Finally, we studied their structures, phylogenetic relationship, and molecular evolution in both coding region and three characteristic domains. All the eight COLs in group I show diurnal expression. In the orthologous and homeologous loci, each gene structure in different cotton species is highly conserved, while length variation has occurred due to insertions/deletions in intron and/or exon regions. Six genes, COL2 to COL5, COL7 and COL8, exhibit higher nucleotide diversity in the D-subgenome than in the A-subgenome. The Ks values of 98.37% in all allotetraploid cotton species examined were higher in the A-D and At-Dt comparison than in the A-At and D-Dt comparisons, and the Pearson's correlation coefficient (r) of Ks between A vs. D and At vs. Dt also showed positive, high correlations, with a correlation coefficient of at least 0.797. The nucleotide polymorphism in wild species is significantly higher compared to G. hirsutum and G. barbadense, indicating a genetic bottleneck associated with the domesticated cotton species. Three characteristic domains in eight COLs exhibit different evolutionary rates, with the CCT domain highly conserved, while the B-box and Var domain much more variable in allotetraploid species. Taken together, COL1, COL2 and COL8 endured greater selective pressures during the domestication process. The study improves our understanding of the domestication-related genes/traits during cotton

  6. Chemical chaperone treatment reduces intracellular accumulation of mutant collagen IV and ameliorates the cellular phenotype of a COL4A2 mutation that causes haemorrhagic stroke.

    Science.gov (United States)

    Murray, Lydia S; Lu, Yinhui; Taggart, Aislynn; Van Regemorter, Nicole; Vilain, Catheline; Abramowicz, Marc; Kadler, Karl E; Van Agtmael, Tom

    2014-01-15

    Haemorrhagic stroke accounts for ∼20% of stroke cases and porencephaly is a clinical consequence of perinatal cerebral haemorrhaging. Here, we report the identification of a novel dominant G702D mutation in the collagen domain of COL4A2 (collagen IV alpha chain 2) in a family displaying porencephaly with reduced penetrance. COL4A2 is the obligatory protein partner of COL4A1 but in contrast to most COL4A1 mutations, the COL4A2 mutation does not lead to eye or kidney disease. Analysis of dermal biopsies from a patient and his unaffected father, who also carries the mutation, revealed that both display basement membrane (BM) defects. Intriguingly, defective collagen IV incorporation into the dermal BM was observed in the patient only and was associated with endoplasmic reticulum (ER) retention of COL4A2 in primary dermal fibroblasts. This intracellular accumulation led to ER stress, unfolded protein response activation, reduced cell proliferation and increased apoptosis. Interestingly, the absence of ER retention of COL4A2 and ER stress in cells from the unaffected father indicate that accumulation and/or clearance of mutant COL4A2 from the ER may be a critical modifier for disease development. Our analysis also revealed that mutant collagen IV is degraded via the proteasome. Importantly, treatment of patient cells with a chemical chaperone decreased intracellular COL4A2 levels, ER stress and apoptosis, demonstrating that reducing intracellular collagen accumulation can ameliorate the cellular phenotype of COL4A2 mutations. Importantly, these data highlight that manipulation of chaperone levels, intracellular collagen accumulation and ER stress are potential therapeutic options for collagen IV diseases including haemorrhagic stroke.

  7. Greenhouse gas mitigation options for Washington State

    Energy Technology Data Exchange (ETDEWEB)

    Garcia, N.

    1996-04-01

    President Clinton, in 1993, established a goal for the United States to return emissions of greenhouse gases to 1990 levels by the year 2000. One effort established to help meet this goal was a three part Environmental Protection Agency state grant program. Washington State completed part one of this program with the release of the 1990 greenhouse gas emissions inventory and 2010 projected inventory. This document completes part two by detailing alternative greenhouse gas mitigation options. In part three of the program EPA, working in partnership with the States, may help fund innovative greenhouse gas reduction strategies. The greenhouse gas control options analyzed in this report have a wide range of greenhouse gas reductions, costs, and implementation requirements. In order to select and implement a prudent mix of control strategies, policy makers need to have some notion of the potential change in climate, the consequences of that change and the uncertainties contained therein. By understanding the risks of climate change, policy makers can better balance the use of scarce public resources for concerns that are immediate and present against those that affect future generations. Therefore, prior to analyzing alternative greenhouse gas control measures, this report briefly describes the phenomenon and uncertainties of global climate change, and then projects the likely consequences for Washington state.

  8. Astronomy 101 in Washington State High Schools

    Science.gov (United States)

    Lutz, Julie H.; Garner, S.; Stetter, T.; McKeever, J.; Santo Pietro, V.

    2011-01-01

    The University of Washington in the High School (UWHS) program enables high schools to offer the 5 quarter credits Astronomy 101 (Astr 101) course for college credits. The credits are transferable to most colleges and universities. The course provides an alternative to advance placement courses and programs such as Washington's Running Start whereby high school students take courses at community colleges. Astr 101 focuses on stars, galaxies and the universe, as well as background topics such as gravitation, electromagnetic radiation and telescopes. The course satisfies the UW "natural world” and "quantitative/symbolic reasoning” distribution requirements. Students must pay a fee to enroll, but the credits cost less than half what they would cost for the course if taken on one of the UW campuses. The course can be offered as either one semester or full-year at the high school. Teachers who offer Astr 101 must be approved in advance by the UW Astronomy Department, and their syllabi and course materials approved also. Teachers receive orientation, professional development opportunities, classroom visits and support (special web site, answering questions, making arrangements for campus visits, planetarium visits) from astronomy department course coordinator. The UWHS Astr 101 program has produced positive outcomes for the astronomy department, the participating teachers and the students who complete the course. In this poster we will discuss our 5 years of experience with offering Astr 101, including benefits to the students, teachers, high schools, university and department, student outcomes, course assessments and resources for offering the course.

  9. Washington State University Algae Biofuels Research

    Energy Technology Data Exchange (ETDEWEB)

    chen, Shulin [Washington State Univ., Pullman, WA (United States). Dept. of Biological Systems Engineering; McCormick, Margaret [Targeted Growth, Inc., Seattle, WA (United States); Sutterlin, Rusty [Inventure Renewables, Inc., Gig Harbor, WA (United States)

    2012-12-29

    The goal of this project was to advance algal technologies for the production of biofuels and biochemicals by establishing the Washington State Algae Alliance, a collaboration partnership among two private companies (Targeted Growth, Inc. (TGI), Inventure Chemicals (Inventure) Inc (now Inventure Renewables Inc) and Washington State University (WSU). This project included three major components. The first one was strain development at TGI by genetically engineering cyanobacteria to yield high levels of lipid and other specialty chemicals. The second component was developing an algal culture system at WSU to produce algal biomass as biofuel feedstock year-round in the northern states of the United States. This system included two cultivation modes, the first one was a phototrophic process and the second a heterotrophic process. The phototrophic process would be used for algae production in open ponds during warm seasons; the heterotrophic process would be used in cold seasons so that year-round production of algal lipid would be possible. In warm seasons the heterotrophic process would also produce algal seeds to be used in the phototrophic culture process. Selected strains of green algae and cyanobacteria developed by TGI were tested in the system. The third component was downstream algal biomass processing by Inventure that included efficiently harvesting the usable fuel fractions from the algae mass and effectively isolating and separating the usable components into specific fractions, and converting isolated fractions into green chemicals.

  10. 中国汉族病理性近视人群的COL9A2基因突变分析%Analysis of COL9A2 gene mutations in a Chinese Han population with pathological myopia

    Institute of Scientific and Technical Information of China (English)

    陈蓉; 龚波; 李倩; 曾光群; 郝(芳); 李宁; 石毅; 张丁丁

    2014-01-01

    目的 对COL9A2基因进行突变分析,探讨中国汉族病理性近视的分子发病机制.方法 选取400例病理性近视患者和400名正常对照,对其中200例患者和200名对照的COL9A2基因全部外显子进行Sanger测序;对检测到的变异位点,应用SNaPshot方法在另外200例患者和200名对照中进行基因分型.结果 通过Sanger测序,在200例病理性近视患者中未检出已报道的D281fs移码突变,但1例患者检测出COL9A2基因第2外显子c.143G>C杂合错义突变,另外1例患者检测出COL9A2基因第17外显子c.884G>A杂合错义突变,在正常对照中未检测到c.143G>C和c.884G>A突变.同时在外显子编码区检测到COL9A2基因rs2228564 SNP位点,其等位基因频率在患者组与正常对照组间的差异无统计学意义(P>0.05).应用SNaPshot方法对另外的200例患者和200名正常对照的这些位点进行基因分型验证,1例患者检测到COL9A2基因第2外显子c.143G>C突变,2例患者检测到COL9A2基因第17外显子c.884G>A突变,rs2228564 SNP位点的等位基因频率在两组间的差异无统计学意义(P>0.05).结论 中国汉族病理性近视与COL9A2基因D281fs移码突变可能无关,COL9A2基因第2外显子c.143G>C突变和第17外显子c.884G>A突变可能与病理性近视的发病有关.%Objective To analyze the mutation of COL9A2 gene and investigate the molecular pathogenesis of pathological myopia in a Han Chinese population.Methods Mutation in the coding region of the COL9A2 gene was screened by Sanger sequencing in 200 subjects with pathological myopia and 200 normal controls.The detected variants were genotyped by SNaPshot method in another 200 myopic cases and 200 normal controls.Results Sanger sequencing has failed to detect the reported D281fs frameshift mutation in the 200 cases.A novel variant,c.143G>C heterozygous missense mutation in exon 2,was identified in a myopic subject,and another novel variant,c.884G

  11. ColE1-Plasmid Production in Escherichia coli: Mathematical Simulation and Experimental Validation

    Science.gov (United States)

    Freudenau, Inga; Lutter, Petra; Baier, Ruth; Schleef, Martin; Bednarz, Hanna; Lara, Alvaro R.; Niehaus, Karsten

    2015-01-01

    Plasmids have become very important as pharmaceutical gene vectors in the fields of gene therapy and genetic vaccination in the past years. In this study, we present a dynamic model to simulate the ColE1-like plasmid replication control, once for a DH5α-strain carrying a low copy plasmid (DH5α-pSUP 201-3) and once for a DH5α-strain carrying a high copy plasmid (DH5α-pCMV-lacZ) by using ordinary differential equations and the MATLAB software. The model includes the plasmid replication control by two regulatory RNA molecules (RNAI and RNAII) as well as the replication control by uncharged tRNA molecules. To validate the model, experimental data like RNAI- and RNAII concentration, plasmid copy number (PCN), and growth rate for three different time points in the exponential phase were determined. Depending on the sampled time point, the measured RNAI- and RNAII concentrations for DH5α-pSUP 201-3 reside between 6 ± 0.7 and 34 ± 7 RNAI molecules per cell and 0.44 ± 0.1 and 3 ± 0.9 RNAII molecules per cell. The determined PCNs averaged between 46 ± 26 and 48 ± 30 plasmids per cell. The experimentally determined data for DH5α-pCMV-lacZ reside between 345 ± 203 and 1086 ± 298 RNAI molecules per cell and 22 ± 2 and 75 ± 10 RNAII molecules per cell with an averaged PCN of 1514 ± 1301 and 5806 ± 4828 depending on the measured time point. As the model was shown to be consistent with the experimentally determined data, measured at three different time points within the growth of the same strain, we performed predictive simulations concerning the effect of uncharged tRNA molecules on the ColE1-like plasmid replication control. The hypothesis is that these tRNA molecules would have an enhancing effect on the plasmid production. The in silico analysis predicts that uncharged tRNA molecules would indeed increase the plasmid DNA production. PMID:26389114

  12. ColE1-plasmid production in Escherichia coli: Mathematical Simulation and Experimental Validation

    Directory of Open Access Journals (Sweden)

    Inga eFreudenau

    2015-09-01

    Full Text Available Plasmids have become very important as pharmaceutical gene vectors in the fields of gene therapy and genetic vaccination in the last years. In this study, we present a dynamic model to simulate the ColE1-like plasmid replication control, once for a DH5α-strain carrying a low copy plasmid (DH5α-pSUP 201-3 and once for a DH5α-strain carrying a high copy plasmid (DH5α-pCMV-lacZ by using ordinary differential equations (ODE and the MATLAB software. The model includes the plasmid replication control by two regulatory RNA molecules (RNAI and RNAII as well as the replication control by uncharged tRNA molecules. To validate the model, experimental data like RNAI- and RNAII concentration, plasmid copy number (PCN, and growth rate for three different time points in the exponential phase were determined. Depending on the sampled time point, the measured RNAI and RNAII concentrations for DH5α-pSUP 201-3 reside between 6 ±0.7 to 34 ±7 RNAI molecules per cell and 0.44 ±0.1 to 3 ±0.9 RNAII molecules per cell. The determined plasmid copy numbers (PCN averaged between 46 ±26 to 48 ±30 plasmids per cell. The experimentally determined data for DH5α-pCMV-lacZ reside between 345 ±203 to 1086 ±298 RNAI molecules per cell and 22 ±2 to 75 ±10 RNAII molecules per cell with an averaged PCN of 1514 ±1301 to 5806 ±4828 depending on the measured time point. As the model was shown to be consistent with the experimentally determined data, measured at three different time points within the growth of the same strain, we performed predictive simulations concerning the effect of uncharged tRNA molecules on the ColE1-like plasmid replication control. The hypothesis is that these tRNA molecules would have an enhancing effect on the plasmid production. The in silico analysis predicts that uncharged tRNA molecules would indeed increase the pDNA production.

  13. Educator Supply and Demand in Washington State. 2004 Report

    Science.gov (United States)

    Lashway, Larry; Maloney, Rick; Hathaway, Randy; Bryant, B. J.

    2005-01-01

    This report describes the findings of the third Educator Supply and Demand Research study in the State of Washington. The intent of these Washington studies is to provide data to inform and shape decisions and activities in the following ways: (1) Provide useful information for educational policymakers, including the legislature, the State Board…

  14. 38 CFR 3.851 - St. Elizabeths Hospital, Washington, DC.

    Science.gov (United States)

    2010-07-01

    ... 38 Pensions, Bonuses, and Veterans' Relief 1 2010-07-01 2010-07-01 false St. Elizabeths Hospital, Washington, DC. 3.851 Section 3.851 Pensions, Bonuses, and Veterans' Relief DEPARTMENT OF VETERANS AFFAIRS... Institutional Awards § 3.851 St. Elizabeths Hospital, Washington, DC. Benefits due or becoming due any...

  15. 36 CFR 910.13 - Urban design of Washington, DC.

    Science.gov (United States)

    2010-07-01

    ... 36 Parks, Forests, and Public Property 3 2010-07-01 2010-07-01 false Urban design of Washington, DC. 910.13 Section 910.13 Parks, Forests, and Public Property PENNSYLVANIA AVENUE DEVELOPMENT... PENNSYLVANIA AVENUE DEVELOPMENT AREA Urban Planning and Design Concerns § 910.13 Urban design of Washington,...

  16. 77 FR 15787 - Washington; Major Disaster and Related Determinations

    Science.gov (United States)

    2012-03-16

    ... State of Washington have been designated as adversely affected by this major disaster: Clallam, Grays Harbor, King, Klickitat, Lewis, Mason, Pierce, Skamania, Snohomish, Thurston, and Wahkiakum Counties for Public Assistance. All counties within the State of Washington are eligible to apply for assistance...

  17. Expanding Access and Opportunity: The Washington State Achievers Scholarship

    Science.gov (United States)

    O'Brien, Colleen

    2011-01-01

    In 2001, the Bill & Melinda Gates Foundation launched the multi-year, multi-million dollar Washington State Achievers Scholarship program. Concerned about disparities in college participation for low-income students in the state of Washington versus their wealthier peers, the Gates Foundation partnered with the College Success Foundation…

  18. Population trajectory of burrowing owls (Athene cunicularia) in eastern Washington

    Science.gov (United States)

    Conway, C.J.; Pardieck, K.L.

    2006-01-01

    Anecdotal evidence suggests that burrowing owls have declined in Washington. The Washington Department of Fish and Wildlife is currently conducting a status review for burrowing owls which will help determine whether they should be listed as threatened or endangered in the state. To provide insights into the current status of burrowing owls (Athene cunicularia), we analyzed data from the North American Breeding Bird Survey using two analytical approaches to determine their current population trajectory in eastern Washington. We used a one-sample t-test to examine whether trend estimates across all BBS routes in Washington differed from zero. We also used a mixed model analysis to estimate the rate of decline in number of burrowing owls detected between 1968 and 2005. The slope in number of burrowing owls detected was negative for 12 of the 16 BBS routes in Washington that have detected burrowing owls. Numbers of breeding burrowing owls detected in eastern Washington declined at a rate of 1.5% annually. We suggest that all BBS routes that have detected burrowing owls in past years in eastern Washington be surveyed annually and additional surveys conducted to track population trends of burrowing owls at finer spatial scales in eastern Washington. In the meantime, land management and regulatory agencies should ensure that publicly managed areas with breeding burrowing owls are not degraded and should implement education and outreach programs to promote protection of privately owned areas with breeding owls.

  19. Expanding Access and Opportunity: The Washington State Achievers Program

    Science.gov (United States)

    Ramsey, Jennifer; Gorgol, Laura

    2010-01-01

    In 2001, the Bill & Melinda Gates Foundation launched a 10-year, multi-million dollar initiative, the Washington State Achievers Program (WSA), to increase opportunities for low-income students to attend postsecondary institutions in Washington State. The Bill & Melinda Gates Foundation granted funds to the College Success Foundation…

  20. President George Washington: A Timeless Model of Great Leadership

    Science.gov (United States)

    2011-04-29

    first president? I am interested in Washington because I wanted to know how he became such a great ,/ . ’ leader and how could that benefit me as a...Washington would be considered to have been homeschooled with augmentation from the local church/school -- with a focus on applied mathematics

  1. Dr. Martin Luther King, Jr. Washington State Resource Guide.

    Science.gov (United States)

    Washington Office of the State Superintendent of Public Instruction, Olympia, WA. Div. of Instructional Programs and Services.

    The Washington State Resource Guide on Martin Luther King, Jr., supplies a wide variety of materials for use with all grade levels in classroom and assembly presentations in public schools. The goal is for every child enrolled in Washington State schools to learn about Dr. King during the days of January 15 to January 17. Resolutions supporting an…

  2. 77 FR 25781 - Environmental Impact Statement; Washington, DC

    Science.gov (United States)

    2012-05-01

    ... Federal Highway Administration Environmental Impact Statement; Washington, DC AGENCY: U.S. Federal Highway... of Intent to Prepare a Draft Environmental Impact Statement (DEIS). SUMMARY: The U.S. Federal Highway... Washington, DC is issuing this notice to advise agencies and the public that a Draft Environmental Impact...

  3. 78 FR 37104 - Establishment of Area Navigation (RNAV) Routes; Washington, DC

    Science.gov (United States)

    2013-06-20

    ...) Routes; Washington, DC AGENCY: Federal Aviation Administration (FAA), DOT. ACTION: Final rule; correction..., that establishes five RNAV routes in support of the Washington, DC, Optimization of Airspace and..., Federal Aviation Administration, 800 Independence Avenue SW., Washington, DC 20591; telephone: (202)...

  4. 76 FR 17818 - Umatilla National Forest, Southeast Washington Resource Advisory Committee

    Science.gov (United States)

    2011-03-31

    ... Forest Service Umatilla National Forest, Southeast Washington Resource Advisory Committee AGENCY: Forest Service, USDA. ACTION: Notice of meeting. SUMMARY: The Umatilla National Forest, Southeast Washington Resource Advisory Committee will meet in Pomeroy, Washington. The committee is meeting as authorized under...

  5. 77 FR 47593 - Umatilla National Forest, Southeast Washington Resource Advisory Committee

    Science.gov (United States)

    2012-08-09

    ... Forest Service Umatilla National Forest, Southeast Washington Resource Advisory Committee AGENCY: Forest Service, USDA. ACTION: Notice of meeting. SUMMARY: The Umatilla National Forest, Southeast Washington Resource Advisory Committee will meet in Pomeroy, Washington as authorized under the Secure Rural Schools...

  6. Two novel distinct COL1A2 mutations highlight the complexity of genotype-phenotype correlations in osteogenesis imperfecta and related connective tissue disorders.

    Science.gov (United States)

    Reuter, Miriam S; Schwabe, Georg C; Ehlers, Christian; Marschall, Christoph; Reis, André; Thiel, Christian; Graul-Neumann, Luitgard

    2013-12-01

    Osteogenesis imperfecta is a heritable connective tissue disorder characterized by variable symptoms including predisposition to fractures. Despite the identification of numerous mutations, a reliable genotype-phenotype correlation has remained notoriously difficult. We now describe two patients with osteogenesis imperfecta and novel, so far undescribed mutations in the COL1A2 gene, further highlighting this complexity. A 3-year-old patient presented with features reminiscent of a connective tissue disorder, with joint hypermobility, Wormian bones, streaky lucencies in the long bones and relative macrocephaly. The patient carried a heterozygous c.1316G > A (p.Gly439Asp) mutation in the COL1A2 gene located in a triple-helix region, in which glycine substitutions have been assumed to cause perinatal lethal OI (Sillence type II). A second family with type I osteogenesis imperfecta carried a heterozygous nonsense mutation c.4060C > T (p.Gln1354X) within the last exon of COL1A2. Whereas other heterozygous nonsense mutations in COL1A2 do not lead to a phenotype, in this case the mRNA is presumed to escape nonsense-mediated decay. Therefore the predicted COL1A2 propeptide lacks the last 13 C-terminal amino acids, suggesting that the OI phenotype results from decelerated assembly and overmodification of the collagen triple helix. The presented COL1A2 mutations exemplify the complexity of COL1A2 genotype-phenotype correlation in genetic counselling in OI.

  7. PTH stimulated growth and decreased Col-X deposition are phosphotidylinositol-3,4,5 triphosphate kinase and mitogen activating protein kinase dependent in avian sterna.

    Science.gov (United States)

    Harrington, Erik Kern; Coon, David J; Kern, Matthew F; Svoboda, Kathy K H

    2010-02-01

    Type X collagen (Col-X) deposition is a marker of terminal differentiation during chondrogenesis, in addition to appositional growth and apoptosis. The parathyroid hormone/parathyroid hormone related peptide (PTH/PTHrP) receptor, or PPR, is a G-Protein coupled receptor (GPCR), which activates several downstream pathways, moderating chondrocyte differentiation, including suppression of Col-X deposition. An Avian sterna model was used to analyze the PPR GPCR downstream kinase role in growth rate and extracellular matrix (ECM) including Col-II, IX, and X. Phosphatidylinositol kinase (PI3K), mitogen activating protein kinase (MAPK) and protein kinase A (PKA) were inhibited with specific established inhibitors LY294002, PD98059, and H89, respectively to test the hypothesis that they could reverse/inhibit the PTH/PTHrP pathway. Excised E14 chick sterna were PTH treated with or without an inhibitor and compared to controls. Sternal length was measured every 24 hr. Cultured sterna were immuno-stained using specific antibodies for Col-II, IX, or X and examined via confocal microscopy. Increased growth in PTH-treated sterna was MAPK, PI3K, and PKA dose dependent, suggesting growth was regulated through multiple pathways. Col-X deposition was rescued in PTH-treated sterna in the presence of PI3K or MAPK inhibitors, but not with the PKA inhibitor. All three inhibitors moderately disrupted Col-II and Col-IX deposition. These results suggest that PTH can activate multiple pathways during chondrocyte differentiation.

  8. Repair of large osteochondral defects in rabbits using porous hydroxyapatite/collagen (HAp/Col) and fibroblast growth factor-2 (FGF-2).

    Science.gov (United States)

    Maehara, Hidetsugu; Sotome, Shinichi; Yoshii, Toshitaka; Torigoe, Ichiro; Kawasaki, Yuichi; Sugata, Yumi; Yuasa, Masato; Hirano, Masahiro; Mochizuki, Naomi; Kikuchi, Masanori; Shinomiya, Kenichi; Okawa, Atsushi

    2010-05-01

    Articular cartilage has a limited capacity for self-renewal. This article reports the development of a porous hydroxyapatite/collagen (HAp/Col) scaffold as a bone void filler and a vehicle for drug administration. The scaffold consists of HAp nanocrystals and type I atelocollagen. The purpose of this study was to investigate the efficacy of porous HAp/Col impregnated with FGF-2 to repair large osteochondral defects in a rabbit model. Ninety-six cylindrical osteochondral defects 5 mm in diameter and 5 mm in depth were created in the femoral trochlear groove of the right knee. Animals were assigned to one of four treatment groups: porous HAp/Col impregnated with 50 microl of FGF-2 at a concentration of 10 or 100 microg/ml (FGF10 or FGF100 group); porous HAp/Col with 50 microl of PBS (HAp/Col group); and no implantation (defect group). The defect areas were examined grossly and histologically. Subchondral bone regeneration was quantified 3, 6, 12, and 24 weeks after surgery. Abundant bone formation was observed in the HAp/Col implanted groups as compared to the defect group. The FGF10 group displayed not only the most abundant bone regeneration but also the most satisfactory cartilage regeneration, with cartilage presenting a hyaline-like appearance. These findings suggest that porous HAp/Col with FGF-2 augments the cartilage repair process.

  9. Integrated solid waste management of Seattle, Washington

    Energy Technology Data Exchange (ETDEWEB)

    NONE

    1995-11-01

    The subject document reports the results of an in-depth investigation of the fiscal year 1992 cost of the City of Seattle, Washington, integrated municipal solid waste management (IMSWM) system, the energy consumed to operate the system, and the environmental performance requirements for each of the system`s waste-processing and disposal facilities. Actual data from records kept by participants is reported in this document. Every effort was made to minimize the use of assumptions, and no attempt is made to interpret the data reported. Analytical approaches are documented so that interested analysts may perform manipulation or further analysis of the data. As such, the report is a reference document for MSW management professionals who are interested in the actual costs and energy consumption for a one-year period, of an operating IMSWM systems.

  10. US hydropower resource assessment for Washington

    Energy Technology Data Exchange (ETDEWEB)

    Conner, A.M.; Francfort, J.E.

    1997-07-01

    The U.S. Department of Energy is developing an estimate of the undeveloped hydropower potential in the United States. The Hydropower Evaluation Software (HES) is a computer model that was developed by the Idaho National Engineering Laboratory for this purpose. HES measures the undeveloped hydropower resources available in the United States, using uniform criteria for measurement. The software was developed and tested using hydropower information and data provided by the Southwestern Power Administration. It is a menu-driven program that allows the personal computer user to assign environmental attributes to potential hydropower sites, calculate development suitability factors for each site based on the environmental attributes present, and generate reports based on these suitability factors. This report describes the resource assessment results for the State of Washington.

  11. Washington upholds HIV exposure law as constitutional.

    Science.gov (United States)

    1999-12-24

    A Washington State appeals court has rejected a constitutional challenge to a law that makes the intentional spreading of HIV to sex partners a crime. The court rejected the notion that the criminal exposure law violated the equal protection clause of the U.S. and State constitutions because it singled out those infected with HIV for unequal treatment. The court saw the law applied specific conduct to all, infected and non-infected alike, not specific groups of people. A second argument that the defendants were denied right of procreation was rejected because those rights are not protected if the defendant intended to inflict bodily injury. In this case, the defendant, [name removed], knowing his HIV status, willingly had sex with several women without warning them of his status or using a condom. The court viewed this behavior as acting with intent to inflict harm. An earlier case involving an HIV-specific criminal exposure law is described.

  12. Health Hazard Evaluation Report HETA 84-004-1568, George Washington University Medical Center, Washington, DC

    Energy Technology Data Exchange (ETDEWEB)

    Gorman, R.; Seligman, P.J.

    1985-03-01

    Area air samples were analyzed for organic solvent vapors and aldehydes at the Biochemistry Department, George Washington University, Washington, DC in October 1983, and February and August 1984. The evaluation was requested by the Safety Director because of employee complaints of eye and respiratory irritation. Questionnaires were administered to 75 employees in the Biochemistry Department and 24 employees in the Pharmacology Department who served as comparisons. Humidity measurements were made. The authors note that the complaints subsided during the spring of 1984, with no explanation. They conclude that the complaints among the employees, especially on the fifth floor, were due to eye irritation. The causative agent could not be identified. Recommendations include evaluating all ventilation systems and repeating the air sampling if complaints of irritation recur.

  13. The X-ray properties of the magnetic Cataclysmic Variable UU Col

    CERN Document Server

    De Martino, D; Mukai, K; Bonnet-Bidaud, J M; Burwitz, V; Gänsicke, B T; Haberl, F; Mouchet, M

    2006-01-01

    XMM-Newton observations aimed at determining for the first time the broad-band X-ray properties of the faint high galactic latitude Intermediate Polar UU Col are presented. We performed X-ray timing analysis in different energy ranges of the EPIC cameras which reveals the dominance of the 863s white dwarf rotational period. The spin pulse is strongly energy dependent. Weak variabilities at the beat 935s and at the 3.5hr orbital periods are also observed, but the orbital modulation is detected only below 0.5keV. Simultaneous UV and optical photometry shows that the spin pulse is anti-phased with respect to the hard X-rays. Analysis of the EPIC and RGS spectra reveals the complexity of the X-ray emission, being composed of a soft 50eV black--body component and two optically thin emission components at 0.2keV and 11keV strongly absorbed by dense material with an equivalent hydrogen column density of 10**(23)cm**(-2) partially (50%) covering the X-ray source. The complex X-ray and UV/optical temporal behaviour in...

  14. Cartografia e deficiência visual: experiências no Colégio Pedro II

    Directory of Open Access Journals (Sweden)

    Rafael Medeiros de Andrade

    2014-01-01

    Full Text Available O processo de construção de uma escola inclusiva perpassa um conjunto de esforços cognitivos e técnicos por parte da comunidade escolar que são necessários para a adequada educação e desenvolvimento do aluno. No que diz respeito ao ensino de Geografia para alunos deficientes visuais, fazem parte deste conjunto de medidas o domínio do sistema Braille, a confecção de materiais e mapas táteis, a gravação de textos em áudio e, entre outras, a realização de trabalhos de campo. O presente relato de experiência refere-se à um projeto de dedicação exclusiva, implementado no Colégio Pedro II de 2008 a 2010, cujo objetivo foi aprimorar o ensino de Geografia para os alunos deficientes visuais. Conclui-se que a adoção dessas medidas representa o início de um longo trabalho de toda comunidade escolar que não pode ser resumido à existência de alguns materiais táteis. Deve, por outro lado, envolver um processo de construção e adequação instrumental, acompanhado da capacitação profissional e da sensibilização da comunidade escolar.

  15. Osteoporosis and Related Genes: VDR, ESR And COL1A1

    Directory of Open Access Journals (Sweden)

    Sabriye Kocaturk Sel

    2011-08-01

    Full Text Available Osteoporosis is now considered as one of the major and growing health care problems around the world. Osteoporosis is the most prevalent metabolic bone disease among developed countries and it is defined as a systemic skeletal disease characterized by low bone mass and microarchitectural deterioration of bone tissue with a consequent increase in bone fragility. Bone is a highly metabolically active tissue in which the processes of osteoblastic bone formation and osteoclastic bone resorption are continuous throughout life. Coupling of osteoblast and osteoclast action ensures that a normal bone structure is maintained. A loss of bone homeostasis may result in a decrease in bone mass leading to osteoporosis or in a defect in the mineralization of bone. Numerous genetic, hormonal, nutritional and life-style factors contribute to the acquisition and maintenance of bone mass. Among them, genetic variations explain as much as 50-80% of the variance for bone mineral density (BMD in the population. Many genes that could be related to osteoporosis have been studied and of them all Vitamin D receptor (VDR, estrogen receptor alpha (ESRα and collagen 1 alpha 1 chain (COL1A1 genes have been the most focused on. [Archives Medical Review Journal 2011; 20(4.000: 246-269

  16. Los continos de don Cristábal Colón

    Directory of Open Access Journals (Sweden)

    István Szászdi León-Borja

    2000-01-01

    Full Text Available La presente investigación lia procurado dar a conocer a un grupo de servidores de Cristóbal Colón, mal conocido hasta ahora. Los continos colombinos eran oficiales, de gran lealtad y privanza, que muchas veces pertenecían a la nobleza urbana castellana. Los continos del Almirante fueron los precursores de los criados de los Virreyes de Indias. No todos alcanzaron el éxito social en el Nuevo Mundo, pero tenemos constancia que algunos lograron fama, poder y buenos enlaces en la sociedad antillana.The present papar is the description of the vital role of a group of men, poorly studied unta the present date, that served Chrístopher Columbus, whose faithfulness and loyalty cause our admiration. Far from being ordinary servants, these officers were well qualified and belonged most of the times to the urban nobillty. The continos of Columbus were the predecessors of the colonial criados of the Spanish Viceroys in the New World. Their success in colonial society should not be taken for granted, but some of them became notorious and were well married.

  17. Xarxa interclase: un projecte col·laboratiu mitjançant tecnologies digitals

    Directory of Open Access Journals (Sweden)

    Françoise Olmo Cazevieille

    2015-12-01

    Full Text Available Focalitzem aquest treball en l'aportació de les tecnologies de la informació i la comunicació (TIC a la pràctica i el desenvolupament d'una llengua estrangera i en els avantatges que ofereixen per a la creació d'activitats basades en la col·laboració i la interacció. Sense aquestes, tant els treballs en equip amb nadius com la cerca d'informació sobre temes especialitzats en la llengua estudiada serien complexos de dur a terme. En aquest article presentem el procediment seguit en un projecte didàctic, Xarxa interclasse, entre dues assignatures basades en l'aprenentatge de llengües estrangeres per a fins específics en un mateix campus universitari.?Es pretén, d'una banda, acostar l'educació superior a les exigències de la societat actual i, d'altra banda, aconseguir una docència motivadora i una participació activa dels discents on la tecnologia s'integra com a element pedagògic.

  18. Metro de Washington EE.UU.

    Directory of Open Access Journals (Sweden)

    Weese, Harry

    1979-09-01

    Full Text Available This article describes the works involved in the first stage of the Washington Underground (Subway system which was begun in 1969 and scheduled for completion in 1983 and is the most modern metropolitan railway in North America. Lines have double track and will carry three million passengers daily. Different construction methods have been used throughout: tunnel formed try digging a trench then roofed and covered, excavated tunnel and elevated structures. Stations features answer to the strictest demands, provided with closed circuit television, air conditioning, noise dampening Systems, special access ways, fire protection Systems and automatic traffic control. Special attention is given to the two bridges over the Pentagon and over the Anacostia, pointing out their differences and the elevated structure at the National Airport.

    Se describen en este articulo los trabajos de la primera fase del Metro de Washington que, iniciado en el año 1969 será, a su terminación en el año 1983, el más moderno sistema de ferrocarril metropolitano de Norte América. Es de doble carril y servirá para tres millones de usuarios. Se han empleado distintos sistemas de obra en su realización: túnel artificial realizado mediante una zanja que después se cubre; túnel perforado, y estructuras aéreas. Las características de las estaciones responden a las mayores exigencias, pues tienen circuito cerrado de televisión, aire acondicionado, sistemas para atenuar el ruido, accesos especiales, sistema de protección contra el fuego y control automático del Metro. Se estudian de un modo particular: los dos puentes sobre el Pentágono y el Anacostia, señalando sus diferencias y la estructura aérea del Aeropuerto Nacional.

  19. Study of Dissolved Chlorofluorocarbons in Lake Washington

    Institute of Scientific and Technical Information of China (English)

    2003-01-01

    Measurements of three chlorofluorocarbons (CFCs): trichlorofluoromethane (CFC-11), dichlorodifluoromethane (CFC-12) and trichlorotrifluoroethane (CFC 113), along with methyl chloroform (CH3CCl3) and carbon tetrachloride (CCl4) were made in water samples from Lake Washington, using Electron Capture Gas Chromatography (EC GC). The samples were collected in mid autumn, a period when the lake's upper layer undergoes rapid cooling. At the time of sampling, a strong vertical temperature gradient was present in the lake, with surface temperatures of ~14℃, and near bottom (50 meters) temperatures of ~8℃. The concentrations of dissolved CFC 12 and CFC 11 increased with depth, as expected from the higher solubilities of these gases at lower temperatures. Atmospheric measurements made at the sampling site at the time of the cruise, showed that CFC 11 and CFC 12 saturations in the near surface samples were 100 % and 106%, respectively. For the deepest sample (52 meters) CFC 11 and CFC 12 saturations were 102 % and 126 %. Because the surface layer of the lake responds to changes in atmospheric CFCs on a time scale of several weeks, the higher than equilibrium concentrations of CFC 12 observed at the time of sampling may reflect earlier episodes of elevated levels of atmospheric CFC 12 in this urban area. High concentrations of dissolved CFCs in runoff or industrial effluent might also lead to elevated CFC levels in the lake. The cold, deep water of Lake Washington is relatively isolated from the effects of surface gas exchange except during winter, and the supersaturations observe in the deep layer may reflect periods of elevated atmospheric CFC 12 levels from the previous winter season. These results were compared to summertime profiles of CFC 11 and CFC 12 made in 1994.

  20. Linkage mapping of the gene for Type III collagen (COL3A1) to human chromosome 2q using a VNTR polymorphism

    Energy Technology Data Exchange (ETDEWEB)

    Tiller, G.E.; Polumbo, P.A.; Summar, M.L. (Vanderbilt Univ. Medical Center, Nashville, TN (United States))

    1994-03-15

    The gene for the [alpha]1(III) chain of type III collagen, COL3A1, has been previously mapped to human chromosome 2q24.3-q31 by in situ hybridization. Physical mapping by pulsed-field gel electrophoresis has demonstrated that COL3A1 lies within 35 kb of COL5A2. The authors genotyped the CEPH families at the COL3A2 locus using a pentanucleotide repeat polymorphism within intron 25. They demonstrated significant linkage to 18 anonymous markers as well as the gene for carbamyl phosphate synthetase (CPSI), which had been previously mapped to this region. No recombination was seen between COL3A1 and COL5A2 (Z = 9.93 at [theta] = 0) or D2S24 (Z = 10.55 at [theta] = 0). The locus order is (D2S32-D2S138-D2S148)-(D2S24-COL5A2-COL3A1)-(D2S118-D2S161), with odds of 1:2300 for the next most likely order. These relationships are consistent with the physical mapping of COL3A1 to the distal portion of 2q and place it proximal to CPSI by means of multipoint analysis. These linkage relationships should prove useful in further studies of Ehlers-Danlos syndrome type IV and carbamyl phosphate synthetase I deficiency and provide an additional framework for localizing other genes in this region. 13 refs., 2 figs., 1 tab.

  1. Trans-activation of Col1a1 Promoter by Osterix During Osteocyte Differentiation%转录因子Osterix对成骨细胞Col1a1基因的反式激活作用

    Institute of Scientific and Technical Information of China (English)

    潘秋辉; 马纪; 于永春; 孙奋勇

    2007-01-01

    Osterix(Osx)是一种具有锌指结构的转录因子,对骨形成十分重要.但到目前为止,直接接受Osterix调控的靶基因尚不清楚.用骨形态发生蛋白2(bone morphogenetic protein 2,BMP2)诱导原代培养小鼠成骨细胞的骨分化,定量RT-PCR检测Ⅰ型胶原蛋白(collagen Ⅰ a 1,Col1a1)与Osx的转录水平.结果发现,二者的转录时相具有相同的变化模式.为了确定二者之间的关系,采用腺病毒表达系统在原代成骨细胞中过表达Osx.数据表明,Osx能够明显上调Col1a1的转录水平.用EMSA(electromobility shift assay)检测这些过表达Osx基因的成骨细胞核抽提物,迁移条带的出现表明,Osx能够直接与Col1a1的启动子相结合.结果提示,在原代培养的成骨细胞中,Osterix通过直接与启动子相结合,调控Col1a1基因的转录.

  2. Identification of a Novel Mutation in the COL2A1 Gene in a Chinese Family with Spondyloepiphyseal Dysplasia Congenita.

    Directory of Open Access Journals (Sweden)

    Xiangjun Huang

    Full Text Available Spondyloepiphyseal dysplasia congenita (SEDC is an autosomal dominant chondrodysplasia characterized by disproportionate short-trunk dwarfism, skeletal and vertebral deformities. Exome sequencing and Sanger sequencing were performed in a Chinese Han family with typical SEDC, and a novel mutation, c.620G>A (p.Gly207Glu, in the collagen type II alpha-1 gene (COL2A1 was identified. The mutation may impair protein stability, and lead to dysfunction of type II collagen. Family-based study suggested that the mutation is a de novo mutation. Our study extends the mutation spectrum of SEDC and confirms genotype-phenotype relationship between mutations at glycine in the triple helix of the alpha-1(II chains of the COL2A1 and clinical findings of SEDC, which may be helpful in the genetic counseling of patients with SEDC.

  3. L'organització de l'activitat conjunta en l'ensenyament escolar dels esports col·lectius

    OpenAIRE

    2001-01-01

    L'estudi de les formes d'organització de l'activitat conjunta en l'ensenyament de la col·laboració tàctica en els esports col·lectius en l'àmbit escolar mostra com a punts de referència teòrica, per un costat aportacions provinents de la psicologia de la instrucció, i per un altre costat aportacions provinents de la didàctica de l' ensenyament de l' educació física i l' esport. Pel que fa al camp de la psicologia, cal situar l'estudi de l'activitat conjunta en una perspectiva constructivista ...

  4. Different NaCl-Induced Calcium Signatures in the Arabidopsis thaliana Ecotypes Col-0 and C24

    KAUST Repository

    Schmöckel, Sandra M.

    2015-02-27

    A common feature of stress signalling pathways are alterations in the concentration of cytosolic free calcium ([Ca2+]cyt), which allow the specific and rapid transmission of stress signals through a plant after exposure to a stress, such as salinity. Here, we used an aequorin based bioluminescence assay to compare the NaCl-induced changes in [Ca2+]cyt of the Arabidopsis ecotypes Col-0 and C24. We show that C24 lacks the NaCl specific component of the [Ca2+]cyt signature compared to Col-0. This phenotypic variation could be exploited as a screening methodology for the identification of yet unknown components in the early stages of the salt signalling pathway.

  5. Perfil de competências do supervisor pedagógico do Colégio Novo da Maia

    OpenAIRE

    Lopes, Inês; Pereira, Isabel; Resende, Nuno

    2008-01-01

    O presente trabalho centra-se na definição de um perfil de competências do supervisor pedagógico do Colégio Novo da Maia. Para que a prática supervisiva seja adequada e promotora de mudança é necessário que a definição do Perfil de Competências do Supervisor Pedagógico tenha em conta o contexto educativo ao qual se destina. Neste trabalho, a participação de todos os agentes educativos do Colégio Novo da Maia foi determinante na elaboração deste perfil, uma vez que possibilitou um conhecime...

  6. A novel splicing mutation in COL1A1 gene caused type I osteogenesis imperfecta in a Chinese family.

    Science.gov (United States)

    Peng, Hao; Zhang, Yuhui; Long, Zhigao; Zhao, Ding; Guo, Zhenxin; Xue, Jinjie; Xie, Zhiguo; Xiong, Zhimin; Xu, Xiaojuan; Su, Wei; Wang, Bing; Xia, Kun; Hu, Zhengmao

    2012-07-10

    Osteogenesis imperfect (OI) is a heritable connective tissue disorder with bone fragility as a cardinal manifestation, accompanied by short stature, dentinogenesis imperfecta, hyperlaxity of ligaments and skin, blue sclerae and hearing loss. Dominant form of OI is caused by mutations in the type I procollagen genes, COL1A1/A2. Here we identified a novel splicing mutation c.3207+1G>A (GenBank ID: JQ236861) in the COL1A1 gene that caused type I OI in a Chinese family. RNA splicing analysis proved that this mutation created a new splicing site at c.3200, and then led to frameshift. This result further enriched the mutation spectrum of type I procollagen genes. Copyright © 2012 Elsevier B.V. All rights reserved.

  7. Different NaCl-induced calcium signatures in the Arabidopsis thaliana ecotypes Col-0 and C24.

    Science.gov (United States)

    Schmöckel, Sandra M; Garcia, Alexandre F; Berger, Bettina; Tester, Mark; Webb, Alex A R; Roy, Stuart J

    2015-01-01

    A common feature of stress signalling pathways are alterations in the concentration of cytosolic free calcium ([Ca2+]cyt), which allow the specific and rapid transmission of stress signals through a plant after exposure to a stress, such as salinity. Here, we used an aequorin based bioluminescence assay to compare the NaCl-induced changes in [Ca2+]cyt of the Arabidopsis ecotypes Col-0 and C24. We show that C24 lacks the NaCl specific component of the [Ca2+]cyt signature compared to Col-0. This phenotypic variation could be exploited as a screening methodology for the identification of yet unknown components in the early stages of the salt signalling pathway.

  8. Tipos de colágeno na fibrose hepática esquistossomótica de Symmers

    OpenAIRE

    Pedro Raso; Nivaldo Hartung Toppa; Dionne M. Oliveira; Francira P. Lemos

    1983-01-01

    Os AA. estudaram o tipo de colágeno em cortes histológicos de fragmentos de fígado de 12 indivíduos portadores da forma hepatesplênica da esquistossomose mansoni, pela técnica de coloração pelo Sirius Supra Red F3BA. Como controle usaram cortes histológicos de 12 fragmentos de fígado de indivíduos sem doenças fibrosantes. As preparações coradas pelo Sirius Supra Red F3BA e examinadas em microscópio de polarização (Leitz) revelaram que a fibrose periportal é constituída por colágeno de tipos I...

  9. Col2CreERT2, a mouse model for a chondrocyte-specific and inducible gene deletion

    Directory of Open Access Journals (Sweden)

    M Chen

    2014-10-01

    Full Text Available In 2007 and 2008, we published two articles reporting a tamoxifen (TM-inducible, chondrocyte-specific gene-targeting mouse model in which the expression of CreERT2 is driven by the type II collagen promoter (Col2CreERT2. The fusion protein is specifically expressed and translocated into the nucleus upon TM administration, which in turn triggers gene recombination. Since then, this animal model has become a powerful tool to study the molecular mechanism of skeletal development and degenerative cartilage diseases, including knee joint osteoarthritis (OA, temporomandibular joint (TMJ OA, and intervertebral disc (IVD degeneration. In this review article, we summarise the application of Col2CreERT2 mice and discuss the potential usage of this animal model in a broad spectrum of cartilage development and molecular pathology studies.

  10. De Novo and Inherited Mutations in COL4A2, Encoding the Type IV Collagen α2 Chain Cause Porencephaly

    Science.gov (United States)

    Yoneda, Yuriko; Haginoya, Kazuhiro; Arai, Hiroshi; Yamaoka, Shigeo; Tsurusaki, Yoshinori; Doi, Hiroshi; Miyake, Noriko; Yokochi, Kenji; Osaka, Hitoshi; Kato, Mitsuhiro; Matsumoto, Naomichi; Saitsu, Hirotomo

    2012-01-01

    Porencephaly is a neurological disorder characterized by fluid-filled cysts or cavities in the brain that often cause hemiplegia. It has been suggested that porencephalic cavities result from focal cerebral degeneration involving hemorrhages. De novo or inherited heterozygous mutations in COL4A1, which encodes the type IV α1 collagen chain that is essential for structural integrity for vascular basement membranes, have been reported in individuals with porencephaly. Most mutations occurred at conserved Gly residues in the Gly-Xaa-Yaa repeats of the triple-helical domain, leading to alterations of the α1α1α2 heterotrimers. Here we report on two individuals with porencephaly caused by a heterozygous missense mutation in COL4A2, which encodes the type IV α2 collagen chain. Mutations c.3455G>A and c.3110G>A, one in each of the individuals, cause Gly residues in the Gly-Xaa-Yaa repeat to be substituted as p.Gly1152Asp and p.Gly1037Glu, respectively, probably resulting in alterations of the α1α1α2 heterotrimers. The c.3455G>A mutation was found in the proband's mother, who showed very mild monoparesis of the left upper extremity, and the maternal elder uncle, who had congenital hemiplegia. The maternal grandfather harboring the mutation is asymptomatic. The c.3110G>A mutation occurred de novo. Our study confirmed that abnormalities of the α1α1α2 heterotrimers of type IV collagen cause porencephaly and stresses the importance of screening for COL4A2 as well as for COL4A1. PMID:22209246

  11. Projecting Politics: The Grapes of Wrath Les Raisins de la colère : Une critique politique

    Directory of Open Access Journals (Sweden)

    Stephen J. Whitfield

    2008-01-01

    Full Text Available Publié en 1939 et adapté à l’écran l’année suivante, Les Raisins de la colère, roman de John Steinbeck, eut un impact immédiat et extraordinaire pour le portrait sans concession qu’il dressait d’un capitalisme américain qui semblait avoir abandonné sa progéniture la plus loyale, la plus assidue et la plus courageuse, celle qui labourait la terre en plein cœur de la république. Écrit à la toute fin de la « Décennie rouge », mais juste avant que les États-Unis entrent dans la Seconde Guerre mondiale, Les Raisins de la colère exprimaient, d’une certaine manière, la colère accumulée contre un système économique qui avait trahi le prolétariat rural. Le roman tout comme le film de John Ford (1940 furent compris par le grand public de l’époque, et bien des années plus tard, comme une protestation clairement gauchiste, voire radicale, contre une telle injustice. Mais cet essai montre combien les idées politiques de ces œuvres jumelées sont en réalité difficiles à saisir et combien il est hasardeux de définir, quel que soit l’effort rétrospectif, la critique que Steinbeck et Ford ont proposée dans leur version des Raisins de la colère, une œuvre inoubliable, déchirante mais ambiguë sur le plan politique.

  12. Projecting Politics: The Grapes of Wrath Les Raisins de la colère à l’écran

    Directory of Open Access Journals (Sweden)

    Stephen J. Whitfield

    2009-07-01

    Full Text Available Publié en 1939 et adapté à l’écran l’année suivante, Les Raisins de la colère, roman de John Steinbeck, eut un impact immédiat et extraordinaire pour le portrait sans concession qu’il dressait d’un capitalisme américain qui semblait avoir abandonné sa progéniture la plus loyale, la plus assidue et la plus courageuse, celle qui labourait la terre en plein coeur de la république. Écrit à la toute fin de la « Décennie rouge », mais juste avant que les États-Unis entrent dans la Seconde Guerre mondiale, Les Raisins de la colère exprimaient, d’une certaine manière, la colère accumulée contre un système économique qui avait trahi le prolétariat rural. Le roman, tout comme le film de John Ford (1940, furent compris par le grand public de l’époque, et bien des années plus tard, comme une protestation clairement gauchiste, voire radicale, contre une telle injustice. Mais cet essai montre combien les idées politiques de ces œuvres jumelées sont en réalité difficiles à saisir et combien il est hasardeux de définir, quel que soit l’effort rétrospectif, la critique que Steinbeck et Ford ont proposée dans leur version des Raisins de la colère, une œuvre inoubliable, déchirante mais ambiguë sur le plan politique.

  13. Eight mutations including 5 novel ones in the COL1A1 gene in Czech patients with osteogenesis imperfecta.

    Science.gov (United States)

    Hruskova, Lucie; Fijalkowski, Igor; Van Hul, Wim; Marik, Ivo; Mortier, Geert; Martasek, Pavel; Mazura, Ivan

    2016-09-01

    Osteogenesis imperfecta (OI), also called brittle bone disease, is a clinically and genetically heterogeneous disorder characterized by decreased bone density. Autosomal dominant forms result from mutations in either the COL1A1 (collagen type I alpha-1 chain) or COL1A2 (collagen type I alpha-2 chain) genes encoding the type I collagen. The aim of this study was to identify mutations and allelic variants of the COL1A1 gene in patients with osteogenesis imperfecta (OI). Molecular genetic analysis of the COL1A1 gene was performed in a cohort of 34 patients with OI. The DNA samples were analysed by PCR and Sanger sequencing. DNA changes in coding sequences of the gene were compared with Type 1 Collagen Mutation Database. Genetic variants resulting in either quantitatively or structurally defective protein production were found in 6 unrelated patients. Four identified mutations are connected to decreased protein production (Tyr47X, Arg131X, Arg415X, Gln1341X), 2 result in amino acid substitution (Cys61Phe, Pro1186Ala) and the last affects splicing (c.1057-1G>T). Further, one silent mutation (Gly794Gly) was detected. No protein analysis was performed. Of the 8 identified mutations, 5 were novel and have not been reported before. Only one causes substitution of glycine located within the Gly-X-Y triplets in the triple helical domain. Two mutations are located in major ligand binding regions (MLBR) which are important for bone strength and flexibility. Although the genotype-phenotype correlation is still unclear, our findings should contribute to elucidating this relationship in patients diagnosed with OI.

  14. Extensive Analysis of GmFTL and GmCOL Expression in Northern Soybean Cultivars in Field Conditions

    OpenAIRE

    2015-01-01

    The FLOWERING LOCUS T (FT) gene is a highly conserved florigen gene among flowering plants. Soybean genome encodes six homologs of FT, which display flowering activity in Arabidopsis thaliana. However, their contributions to flowering time in different soybean cultivars, especially in field conditions, are unclear. We employed six soybean cultivars with different maturities to extensively investigate expression patterns of GmFTLs (Glycine max FT-like) and GmCOLs (Glycine max CO-like) in the f...

  15. Estudi de l'eficiència energètica d'una casa de colònies

    OpenAIRE

    Masimon i Clavera, Lluís

    2009-01-01

    L’objecte del projecte és la millora de l’eficiència energètica per a la producció d’aigua calenta sanitària, calefacció, i climatització de l’aigua d’una piscina coberta, en una casa de colònies, prioritzant l’ús d’energia solar i optimitzant la gestió energètica.

  16. Sigma Theta Tau, DAaL/Texas Nurse Association, 2017 South Texas Nurse Imagemaker, Lt Col Jacqueline Killian

    Science.gov (United States)

    2018-04-28

    practice to life at the 59th Medical Wing. Her leadership and passion for nursing excellence are evident as she effortlessly moves between her roles of...regulatory process. As a seasoned nurse scientist Lt Col Killian is lead on multiple research studies, two of which specifica lly exemplify her passion ...health and wellness. Jackie is driven by her selflessness, integrity, and passion for excellence as she leads and mentors nurses to take up the

  17. Gene Editing for the Efficient Correction of a Recurrent COL7A1 Mutation in Recessive Dystrophic Epidermolysis Bullosa Keratinocytes.

    Science.gov (United States)

    Chamorro, Cristina; Mencía, Angeles; Almarza, David; Duarte, Blanca; Büning, Hildegard; Sallach, Jessica; Hausser, Ingrid; Del Río, Marcela; Larcher, Fernando; Murillas, Rodolfo

    2016-04-05

    Clonal gene therapy protocols based on the precise manipulation of epidermal stem cells require highly efficient gene-editing molecular tools. We have combined adeno-associated virus (AAV)-mediated delivery of donor template DNA with transcription activator-like nucleases (TALE) expressed by adenoviral vectors to address the correction of the c.6527insC mutation in the COL7A1 gene, causing recessive dystrophic epidermolysis bullosa in a high percentage of Spanish patients. After transduction with these viral vectors, high frequencies of homology-directed repair were found in clones of keratinocytes derived from a recessive dystrophic epidermolysis bullosa (RDEB) patient homozygous for the c.6527insC mutation. Gene-edited clones recovered the expression of the COL7A1 transcript and collagen VII protein at physiological levels. In addition, treatment of patient keratinocytes with TALE nucleases in the absence of a donor template DNA resulted in nonhomologous end joining (NHEJ)-mediated indel generation in the vicinity of the c.6527insC mutation site in a large proportion of keratinocyte clones. A subset of these indels restored the reading frame of COL7A1 and resulted in abundant, supraphysiological expression levels of mutant or truncated collagen VII protein. Keratinocyte clones corrected both by homology-directed repair (HDR) or NHEJ were used to regenerate skin displaying collagen VII in the dermo-epidermal junction.

  18. Common variants in the COL4A4 gene confer susceptibility to lattice degeneration of the retina.

    Directory of Open Access Journals (Sweden)

    Akira Meguro

    Full Text Available Lattice degeneration of the retina is a vitreoretinal disorder characterized by a visible fundus lesion predisposing the patient to retinal tears and detachment. The etiology of this degeneration is still uncertain, but it is likely that both genetic and environmental factors play important roles in its development. To identify genetic susceptibility regions for lattice degeneration of the retina, we performed a genome-wide association study (GWAS using a dense panel of 23,465 microsatellite markers covering the entire human genome. This GWAS in a Japanese cohort (294 patients with lattice degeneration and 294 controls led to the identification of one microsatellite locus, D2S0276i, in the collagen type IV alpha 4 (COL4A4 gene on chromosome 2q36.3. To validate the significance of this observation, we evaluated the D2S0276i region in the GWAS cohort and in an independent Japanese cohort (280 patients and 314 controls using D2S0276i and 47 single nucleotide polymorphisms covering the region. The strong associations were observed in D2S0276i and rs7558081 in the COL4A4 gene (Pc = 5.8 × 10(-6, OR = 0.63 and Pc = 1.0 × 10(-5, OR = 0.69 in a total of 574 patients and 608 controls, respectively. Our findings suggest that variants in the COL4A4 gene may contribute to the development of lattice degeneration of the retina.

  19. A mutational analysis of the ColE1-encoded cell cycle regulator Rcd confirms its role in plasmid stability.

    Science.gov (United States)

    Balding, Claire; Blaby, Ian; Summers, David

    2006-07-01

    Multimers of multicopy plasmids cause instability. They arise by homologous recombination and accumulate by over-replication in a process known as the dimer catastrophe. Dimers are resolved to monomers by site-specific recombination systems such as Xer-cer of plasmid ColE1. In addition, the Rcd checkpoint hypothesis proposes that a short transcript (Rcd) coded within ColE1 cer delays the division of multimer-containing cells. The crucial observation underpinning the checkpoint hypothesis is that when the Rcd promoter (P(cer)) is inactivated by mutation of its invariant T, the plasmid becomes unstable. Recently, we discovered that this mutation also alters a potential Fis binding site in cer. ColE1-like plasmids are less stable in fis mutant hosts and it is conceivable that instability caused by the mutation is due to altered Fis binding, rather than the loss of Rcd expression per se. We have therefore undertaken an independent test of the role of P(cer)-Rcd in multicopy plasmid stability. We have generated a series of loss-of-function mutants of Rcd and detailed analysis of two of these shows that they cause a level of instability indistinguishable from P(cer) inactivation. This result is consistent with the predictions of the checkpoint hypothesis and confirms the role of Rcd in plasmid stability.

  20. Gene Editing for the Efficient Correction of a Recurrent COL7A1 Mutation in Recessive Dystrophic Epidermolysis Bullosa Keratinocytes

    Directory of Open Access Journals (Sweden)

    Cristina Chamorro

    2016-01-01

    Full Text Available Clonal gene therapy protocols based on the precise manipulation of epidermal stem cells require highly efficient gene-editing molecular tools. We have combined adeno-associated virus (AAV-mediated delivery of donor template DNA with transcription activator-like nucleases (TALE expressed by adenoviral vectors to address the correction of the c.6527insC mutation in the COL7A1 gene, causing recessive dystrophic epidermolysis bullosa in a high percentage of Spanish patients. After transduction with these viral vectors, high frequencies of homology-directed repair were found in clones of keratinocytes derived from a recessive dystrophic epidermolysis bullosa (RDEB patient homozygous for the c.6527insC mutation. Gene-edited clones recovered the expression of the COL7A1 transcript and collagen VII protein at physiological levels. In addition, treatment of patient keratinocytes with TALE nucleases in the absence of a donor template DNA resulted in nonhomologous end joining (NHEJ-mediated indel generation in the vicinity of the c.6527insC mutation site in a large proportion of keratinocyte clones. A subset of these indels restored the reading frame of COL7A1 and resulted in abundant, supraphysiological expression levels of mutant or truncated collagen VII protein. Keratinocyte clones corrected both by homology-directed repair (HDR or NHEJ were used to regenerate skin displaying collagen VII in the dermo-epidermal junction.

  1. Genetic and epigenetic factors at COL2A1 and ABCA4 influence clinical outcome in congenital toxoplasmosis.

    Directory of Open Access Journals (Sweden)

    Sarra E Jamieson

    Full Text Available BACKGROUND: Primary Toxoplasma gondii infection during pregnancy can be transmitted to the fetus. At birth, infected infants may have intracranial calcification, hydrocephalus, and retinochoroiditis, and new ocular lesions can occur at any age after birth. Not all children who acquire infection in utero develop these clinical signs of disease. Whilst severity of disease is influenced by trimester in which infection is acquired by the mother, other factors including genetic predisposition may contribute. METHODS AND FINDINGS: In 457 mother-child pairs from Europe, and 149 child/parent trios from North America, we show that ocular and brain disease in congenital toxoplasmosis associate with polymorphisms in ABCA4 encoding ATP-binding cassette transporter, subfamily A, member 4. Polymorphisms at COL2A1 encoding type II collagen associate only with ocular disease. Both loci showed unusual inheritance patterns for the disease allele when comparing outcomes in heterozygous affected children with outcomes in affected children of heterozygous mothers. Modeling suggested either an effect of mother's genotype, or parent-of-origin effects. Experimental studies showed that both ABCA4 and COL2A1 show isoform-specific epigenetic modifications consistent with imprinting. CONCLUSIONS: These associations between clinical outcomes of congenital toxoplasmosis and polymorphisms at ABCA4 and COL2A1 provide novel insight into the molecular pathways that can be affected by congenital infection with this parasite.

  2. CNV analysis in Tourette syndrome implicates large genomic rearrangements in COL8A1 and NRXN1.

    Science.gov (United States)

    Nag, Abhishek; Bochukova, Elena G; Kremeyer, Barbara; Campbell, Desmond D; Muller, Heike; Valencia-Duarte, Ana V; Cardona, Julio; Rivas, Isabel C; Mesa, Sandra C; Cuartas, Mauricio; Garcia, Jharley; Bedoya, Gabriel; Cornejo, William; Herrera, Luis D; Romero, Roxana; Fournier, Eduardo; Reus, Victor I; Lowe, Thomas L; Farooqi, I Sadaf; Mathews, Carol A; McGrath, Lauren M; Yu, Dongmei; Cook, Ed; Wang, Kai; Scharf, Jeremiah M; Pauls, David L; Freimer, Nelson B; Plagnol, Vincent; Ruiz-Linares, Andrés

    2013-01-01

    Tourette syndrome (TS) is a neuropsychiatric disorder with a strong genetic component. However, the genetic architecture of TS remains uncertain. Copy number variation (CNV) has been shown to contribute to the genetic make-up of several neurodevelopmental conditions, including schizophrenia and autism. Here we describe CNV calls using SNP chip genotype data from an initial sample of 210 TS cases and 285 controls ascertained in two Latin American populations. After extensive quality control, we found that cases (N = 179) have a significant excess (P = 0.006) of large CNV (>500 kb) calls compared to controls (N = 234). Amongst 24 large CNVs seen only in the cases, we observed four duplications of the COL8A1 gene region. We also found two cases with ∼400 kb deletions involving NRXN1, a gene previously implicated in neurodevelopmental disorders, including TS. Follow-up using multiplex ligation-dependent probe amplification (and including 53 more TS cases) validated the CNV calls and identified additional patients with rearrangements in COL8A1 and NRXN1, but none in controls. Examination of available parents indicates that two out of three NRXN1 deletions detected in the TS cases are de-novo mutations. Our results are consistent with the proposal that rare CNVs play a role in TS aetiology and suggest a possible role for rearrangements in the COL8A1 and NRXN1 gene regions.

  3. CNV analysis in Tourette syndrome implicates large genomic rearrangements in COL8A1 and NRXN1.

    Directory of Open Access Journals (Sweden)

    Abhishek Nag

    Full Text Available Tourette syndrome (TS is a neuropsychiatric disorder with a strong genetic component. However, the genetic architecture of TS remains uncertain. Copy number variation (CNV has been shown to contribute to the genetic make-up of several neurodevelopmental conditions, including schizophrenia and autism. Here we describe CNV calls using SNP chip genotype data from an initial sample of 210 TS cases and 285 controls ascertained in two Latin American populations. After extensive quality control, we found that cases (N = 179 have a significant excess (P = 0.006 of large CNV (>500 kb calls compared to controls (N = 234. Amongst 24 large CNVs seen only in the cases, we observed four duplications of the COL8A1 gene region. We also found two cases with ∼400 kb deletions involving NRXN1, a gene previously implicated in neurodevelopmental disorders, including TS. Follow-up using multiplex ligation-dependent probe amplification (and including 53 more TS cases validated the CNV calls and identified additional patients with rearrangements in COL8A1 and NRXN1, but none in controls. Examination of available parents indicates that two out of three NRXN1 deletions detected in the TS cases are de-novo mutations. Our results are consistent with the proposal that rare CNVs play a role in TS aetiology and suggest a possible role for rearrangements in the COL8A1 and NRXN1 gene regions.

  4. A novel collagen/platelet-rich plasma (COL/PRP) scaffold: preparation and growth factor release analysis.

    Science.gov (United States)

    Zhang, Xiujie; Wang, Jingwei; Ren, Mingguang; Li, Lifeng; Wang, Qingwen; Hou, Xiaohua

    2016-06-01

    Platelet-rich plasma (PRP) has been widely used in clinical practice for more than 20 years because it causes the release of many growth factors. However, the burst release pattern and short release period of PRP have become obstacles to its application. An optimal controllable release system is an urgent need for researchers. This study investigated whether collagen/PRP (COL/PRP) scaffolds can serve as a vehicle for the controllable release of growth factors. We fabricated a novel scaffold that integrates PRP activated by thrombin or collagen into type I collagen. The mechanical properties, cytotoxicity, and transforming growth factor β1 (TGF-β1), platelet derived growth factor (PDGF), fibroblast growth factor (FGF) and vascular endothelial growth factor (VEGF) content were evaluated. Our results demonstrate that the COL/PRP scaffolds were not cytotoxic to L-929 fibroblasts. The PDGF and FGF content in the thrombin group was at a higher level and lasted for a long period of time. Collagen and thrombin played the same role in the release of TGF-β1 and VEGF. These data suggest that the novel COL/PRP scaffolds provide a carrier for the controllable release of growth factors and may be used in tissue- regenerative therapies.

  5. The Solar Neighborhood. XXVI. AP Col: The Closest (8.4 pc) Pre-Main-Sequence Star

    CERN Document Server

    Riedel, Adric R; Henry, Todd J; Melis, Carl; Jao, Wei-Chun; Subasavage, John P; 10.1088/0004-6256/142/4/104

    2011-01-01

    We present the results of a multi-technique investigation of the M4.5Ve flare star AP Col, which we discover to be the nearest pre-main-sequence star. These include astrometric data from the CTIO 0.9m, from which we derive a proper motion of 342.0+/-0.5 mas yr^-1, a trigonometric parallax of 119.21+/-0.98 mas (8.39+/-0.07 pc), and photometry and photometric variability at optical wavelengths. We also provide spectroscopic data, including radial velocity (22.4+/-0.3 km s^-1), lithium Equivalent Width (EW) (0.28+/-0.02 A), H-alpha EW (-6.0 to -35 A), {\\it vsini} (11+/-1 km s^-1), and gravity indicators from the Siding Spring 2.3-m WiFeS, Lick 3-m Hamilton echelle, and Keck-I HIRES echelle spectrographs. The combined observations demonstrate that AP Col is the closer of only two known systems within 10 pc of the Sun younger than 100 Myr. Given its space motion and apparent age of 12-50 Myr, AP Col is likely a member of the recently proposed ~40 Myr old Argus/IC 2391 association.

  6. Whole exome analysis identifies dominant COL4A1 mutations in patients with complex ocular phenotypes involving microphthalmia.

    Science.gov (United States)

    Deml, B; Reis, L M; Maheshwari, M; Griffis, C; Bick, D; Semina, E V

    2014-11-01

    Anophthalmia/microphthalmia (A/M) is a developmental ocular malformation defined as complete absence or reduction in size of the eye. A/M is a heterogenous disorder with numerous causative genes identified; however, about half the cases lack a molecular diagnosis. We undertook whole exome sequencing in an A/M family with two affected siblings, two unaffected siblings, and unaffected parents; the ocular phenotype was isolated with only mild developmental delay/learning difficulties reported and a normal brain magnetic resonance imaging (MRI) in the proband at 16 months. No pathogenic mutations were identified in 71 known A/M genes. Further analysis identified a shared heterozygous mutation in COL4A1, c.2317G>A, p.(Gly773Arg) that was not seen in the unaffected parents and siblings. Analysis of 24 unrelated A/M exomes identified a novel c.2122G>A, p.(Gly708Arg) mutation in an additional patient with unilateral microphthalmia, bilateral microcornea and Peters anomaly; the mutation was absent in the unaffected mother and the unaffected father was not available. Mutations in COL4A1 have been linked to a spectrum of human disorders; the most consistent feature is cerebrovascular disease with variable ocular anomalies, kidney and muscle defects. This study expands the spectrum of COL4A1 phenotypes and indicates screening in patients with A/M regardless of MRI findings or presumed inheritance pattern.

  7. Extensive Analysis of GmFTL and GmCOL Expression in Northern Soybean Cultivars in Field Conditions.

    Directory of Open Access Journals (Sweden)

    Guangyu Guo

    Full Text Available The FLOWERING LOCUS T (FT gene is a highly conserved florigen gene among flowering plants. Soybean genome encodes six homologs of FT, which display flowering activity in Arabidopsis thaliana. However, their contributions to flowering time in different soybean cultivars, especially in field conditions, are unclear. We employed six soybean cultivars with different maturities to extensively investigate expression patterns of GmFTLs (Glycine max FT-like and GmCOLs (Glycine max CO-like in the field conditions. The results show that GmFTL3 is an FT homolog with the highest transcript abundance in soybean, but other GmFTLs may also contribute to flower induction with different extents, because they have more or less similar expression patterns in developmental-, leaf-, and circadian-specific modes. And four GmCOL genes (GmCOL1/2/5/13 may confer to the expression of GmFTL genes. Artificial manipulation of GmFTL expression by transgenic strategy (overexpression and RNAi results in a distinct change in soybean flowering time, indicating that GmFTLs not only impact on the control of flowering time, but have potential applications in the manipulation of photoperiodic adaptation in soybean. Additionally, transgenic plants show that GmFTLs play a role in formation of the first flowers and in vegetative growth.

  8. 腰椎间盘退变与COL9A2基因单核苷酸多态性的相关性%Correlation between lumbar disc degeneration and COL9A2 gene single nucleotide polymorphisms

    Institute of Scientific and Technical Information of China (English)

    陈涛; 黎观保; 梁科友; 贾世青

    2013-01-01

    BACKGROUND: Studies have shown that lumbar disc degeneration is closely related to genes. OBJECTIVE: To explore the relationship between COL9A2 gene single nucleotide polymorphisms (rsl2722877, rs3737820 and rs209914) and lumbar disc degeneration. METHODS: 280 patients with lumbar degenerative disc disease were selected, and 268 age- and sex-matched patients without lumbar degenerative disc disease were selected as control group. Al the patients came from Guangxi Zhuang Autonomous Region. The blood samples were col ected from the patients with lumbar degenerative disc disease and without lumbar degenerative disc disease to extract the genomic DNA and to design PCR primers and TaqMan probe for the rsl2722877 rs3737820 and rs209914 sites of COL9A2 gene. The al ele frequency and genotype frequency were analyzed with SPSS17.0 software. RESULTS AND CONCLUSION: The differences of genotype and the al ele frequency distribution of rsl2722877 rs3737820 and rs209914 sites were statistical y significant (P < 0.05). The COL9A2 gene single nucleotide polymorphisms rsl2722877, rs3737820 and rs209914 were closely related with susceptibility of lumbar degenerative disc disease in Guangxi Zhuang population.%  背景:有研究证实,腰椎间盘退变与基因有密切关系。目的:探讨 COL9A2基因单核苷酸多态性(rsl2722877、rs3737820和 rs209914)与腰椎间盘退变性疾病的关系。方法:腰椎间盘退变性疾病患者280例,年龄、性别匹配的268例非腰椎间盘退变性疾病患者作为正常对照组,均来自广西壮族。收集腰椎间盘退变性疾病患者、非腰椎间盘退变性疾病患者的血液样本,提取基因组 DNA,设计针对 COL9A2基因 rsl2722877、rs3737820和 rs209914位点的 PCR 引物、TaqMan 探针,利用 TaqMan 探针技术对 rsl2722877、rs3737820和 rs209914位点进行 PCR 荧光分型。采用 SPSS17.0软件进行等位基因频率及基因型频率分析。结果与结论:rsl2722877

  9. Col-OSSOS: z-Band Photometry Reveals Three Distinct TNO Surface Types

    Science.gov (United States)

    Pike, Rosemary E.; Fraser, Wesley C.; Schwamb, Megan E.; Kavelaars, J. J.; Marsset, Michael; Bannister, Michele T.; Lehner, Matthew J.; Wang, Shiang-Yu; Alexandersen, Mike; Chen, Ying-Tung; Gladman, Brett J.; Gwyn, Stephen; Petit, Jean-Marc; Volk, Kathryn

    2017-09-01

    Several different classes of trans-Neptunian objects (TNOs) have been identified based on their optical and near-infrared colors. As part of the Colours of the Outer Solar System Origins Survey (Col-OSSOS), we have obtained g-, r-, and z-band photometry of 26 TNOs using Subaru and Gemini Observatories. Previous color surveys have not utilized z-band reflectance, and the inclusion of this band reveals significant surface reflectance variations between sub-populations. The colors of TNOs in g - r and r - z show obvious structure, and appear consistent with the previously measured bi-modality in g - r. The distribution of colors of the two dynamically excited surface types can be modeled using the two-component mixing models from Fraser & Brown. With the combination of g - r and r - z, the dynamically excited classes can be separated cleanly into red and neutral surface classes. In g - r and r - z, the two dynamically excited surface groups are also clearly distinct from the cold classical TNO surfaces, which are red, with g-r≳ 0.85 and r - z ≲ 0.6, while all dynamically excited objects with similar g - r colors exhibit redder r - z colors. The z-band photometry makes it possible for the first time to differentiate the red excited TNO surfaces from the red cold classical TNO surfaces. The discovery of different r - z colors for these cold classical TNOs makes it possible to search for cold classical surfaces in other regions of the Kuiper Belt and to completely separate cold classical TNOs from the dynamically excited population, which overlaps in orbital parameter space.

  10. Quiste de colédoco. Presentación de un caso

    Directory of Open Access Journals (Sweden)

    Daniel Olivera Fajardo

    2012-06-01

    Full Text Available La dilatación congénita de las vías biliares y su incidencia es rara, se presenta un caso cada 100 000 a 150 000 nacimientos. La preocupación actual respecto a la evolución de este proceso, es que origine un colangiocarcinoma. Se presenta el caso de una adolescente de procedencia urbana, que acudió a  cuerpo de guardia de su área de salud, refiriendo que desde hacía aproximadamente 5 meses presentaba dolor  moderado en ¨la boca¨ del estómago y en la región superior derecha del abdomen que aparecía siempre después de ingerir alimentos, se aliviaba por sí solo y se acompañaba de vómitos. Su médico de familia  indicó ultrasonido abdominal, donde se observó un quiste en el hígado. Fue  trasladada al Cuerpo de Guardia del Hospital General Universitario Dr. Gustavo Aldereguía Lima, de Cienfuegos, donde fue valorada por el Servicio de Cirugía. Se decidió la realización de  tomografÍa axial computarizada de abdomen en la que se observó un quiste a nivel de la cabeza del páncreas. Se aplicó tratamiento quirúrgico. Los resultados anatomopatológicos mostraron colecistitis crónica, quiste de colédoco e inflamación crónica inespecífica.

  11. The BiSciCol Triplifier: bringing biodiversity data to the Semantic Web.

    Science.gov (United States)

    Stucky, Brian J; Deck, John; Conlin, Tom; Ziemba, Lukasz; Cellinese, Nico; Guralnick, Robert

    2014-07-29

    Recent years have brought great progress in efforts to digitize the world's biodiversity data, but integrating data from many different providers, and across research domains, remains challenging. Semantic Web technologies have been widely recognized by biodiversity scientists for their potential to help solve this problem, yet these technologies have so far seen little use for biodiversity data. Such slow uptake has been due, in part, to the relative complexity of Semantic Web technologies along with a lack of domain-specific software tools to help non-experts publish their data to the Semantic Web. The BiSciCol Triplifier is new software that greatly simplifies the process of converting biodiversity data in standard, tabular formats, such as Darwin Core-Archives, into Semantic Web-ready Resource Description Framework (RDF) representations. The Triplifier uses a vocabulary based on the popular Darwin Core standard, includes both Web-based and command-line interfaces, and is fully open-source software. Unlike most other RDF conversion tools, the Triplifier does not require detailed familiarity with core Semantic Web technologies, and it is tailored to a widely popular biodiversity data format and vocabulary standard. As a result, the Triplifier can often fully automate the conversion of biodiversity data to RDF, thereby making the Semantic Web much more accessible to biodiversity scientists who might otherwise have relatively little knowledge of Semantic Web technologies. Easy availability of biodiversity data as RDF will allow researchers to combine data from disparate sources and analyze them with powerful linked data querying tools. However, before software like the Triplifier, and Semantic Web technologies in general, can reach their full potential for biodiversity science, the biodiversity informatics community must address several critical challenges, such as the widespread failure to use robust, globally unique identifiers for biodiversity data.

  12. Dysspondyloenchondromatosis (DSC) associated with COL2A1 mutation: Clinical and radiological overlap with spondyloepimetaphyseal dysplasia-Strudwick type (SEMD-S).

    Science.gov (United States)

    Merrick, Blair; Calder, Alistair; Wakeling, Emma

    2015-12-01

    Dysspondyloenchondromatosis (DSC) is a rare skeletal dysplasia characterized by enchondroma-like lesions and anisospondyly. The former leads to discrepancies in limb length, and the latter, to progressive kyphoscoliosis. Two recent cases have highlighted the genetic heterogeneity of DSC, one demonstrating the presence and, the other, the absence of a COL2A1 mutation. This may have important clinical implications, for example, screening for complications including atlanto-axial instability associated with type II collagenopathies, as well as long-term patient management. We report on a case with radiographic features of DSC with overlap into the type II collagenopathy spondyloepimetaphyseal dysplasia, Strudwick type, who was found to carry a novel heterozygous mutation in the COL2A1 gene. Testing for COL2A1 mutations should be performed in all patients with radiological features of DSC. Further research is needed to identify the underlying molecular cause in cases where no COL2A1 mutation is identified.

  13. A founder synonymous COL7A1 mutation in three Danish families with dominant dystrophic epidermolysis bullosa pruriginosa identifies exonic regulatory sequences required for exon 87 splicing

    DEFF Research Database (Denmark)

    Covaciu, C; Grosso, F; Pisaneschi, E

    2011-01-01

    a previously unrecognized translationally silent exonic COL7A1 mutation that results in skipping of exon 87 and is associated with DDEB-Pr phenotypes in several members of three apparently unrelated Danish families. A haplotype segregation study suggested a common ancestor in these kindred. Functional splicing...... shoulders. DEB-Pr is caused by either dominant (DDEB-Pr) or recessive mutations in the COL7A1 gene encoding type VII collagen (COLVII). The full spectrum of COL7A1 mutations in DEB-Pr remains elusive and the genotype-phenotype correlation is largely incomplete. Here, we report and functionally characterize...... analysis of the mutant exon by a COL7A1 minigene construct and computational prediction for splicing regulatory cis-sequences prove that the mutation alters the activity of an exonic splicing enhancer (ESE) critical for exon inclusion. These findings substantiate for the first time the involvement...

  14. Genetic Association of COL5A1 Variants in Keratoconus Patients Suggests a Complex Connection between Corneal Thinning and Keratoconus

    Science.gov (United States)

    Li, Xiaohui; Bykhovskaya, Yelena; Canedo, Ana Laura Caiado; Haritunians, Talin; Siscovick, David; Aldave, Anthony J.; Szczotka-Flynn, Loretta; Iyengar, Sudha K.; Rotter, Jerome I.; Taylor, Kent D.; Rabinowitz, Yaron S.

    2013-01-01

    Purpose. Single nucleotide polymorphisms (SNPs) located near or within the COL5A1 gene, at 9q34.2-q34.3 chromosomal region have been reported in association with central corneal thickness (CCT). Using family linkage analysis, we identified a keratoconus susceptibility locus at 9q34. These findings led us to perform an association study between COL5A1 variation and keratoconus susceptibility. Methods. A Caucasian case–control cohort of 222 keratoconus patients and 3324 controls was selected as the discovery panel. An independent case–control panel of 304 cases and 518 controls and a family panel of 186 subjects were replicated for genotyping and association. Forty-four SNPs (21 for discovery and 23 for fine-mapping) spanning 300 kilobases in and around COL5A1 were genotyped and tested for genetic association. Logistic regression models implemented in PLINK were used to test for association in case controls. Generalized estimating equation models accounting for familial correlations implemented in genome-wide interaction analyses with family data were used for association testing in families. Results. Two CCT associated SNPs (rs1536482 and rs7044529 near and within COL5A1) were identified in the keratoconus discovery cohort (P values of 6.5 × 10−3 and 7.4 × 10−3). SNP rs1536482 was replicated in the second case–control sample (P = 0.02), and SNP rs7044529 was replicated in a keratoconus family panel (P = 0.03). Meta P values of rs1536482 and rs7044529 in the keratoconus cohorts were 1.5 × 10−4 (odds ratio [OR] = 1.30) and 2.9 × 10−3 (OR = 1.39). After Bonferroni correction, the association of SNP rs1536482 remained significant (P = 6.5 × 10−3). Conclusions. SNPs in the COL5A1 region, which regulate normal variation in CCT, may play a role in the thinning associated with keratoconus. PMID:23513063

  15. Reduced expression of collagen VI alpha 3 (COL6A3) confers resistance to inflammation-induced MCP1 expression in adipocytes.

    Science.gov (United States)

    Gesta, Stephane; Guntur, Kalyani; Majumdar, Ishita Deb; Akella, Syamala; Vishnudas, Vivek K; Sarangarajan, Rangaprasad; Narain, Niven R

    2016-08-01

    Collagen VI alpha 3 (COL6A3) is associated with insulin resistance and adipose tissue inflammation. In this study, the role of COL6A3 in human adipocyte function was characterized. Immortalized human preadipocyte cell lines stably expressing control or COL6A3 shRNA were used to study adipocyte function and inflammation. COL6A3 knockdown increased triglyceride content, lipolysis, insulin-induced Akt phosphorylation, and mRNA expression of key adipogenic genes (peroxisome proliferator-activated receptor-γ, glucose transporter, adiponectin, and fatty acid binding protein), indicating increased adipocyte function and insulin sensitivity. However, COL6A3 knockdown decreased basal adipocyte chemokine (C-C motif) ligand 2 [CCL2, monocyte chemoattractant protein (MCP1)] mRNA expression, reduced secreted protein levels, and abrogated tumor necrosis factor-α- and lipopolysaccharide-induced MCP1 mRNA expression. In addition, while control adipocytes co-cultured with THP1 macrophages showed a threefold increase in adipocyte MCP1 mRNA expression, in COL6A3 knockdown adipocytes MCP1 mRNA expression was unaltered by co-culturing. Lastly, in normal differentiated adipocytes, matrix metalloproteinase-11 treatment reduced expression of COL6A3 protein, MCP1 mRNA, MCP1 secretion, and abrogated tumor necrosis factor-α- and lipopolysaccharide-induced MCP1 mRNA expression and protein secretion. COL6A3 knockdown in adipocytes leads to the development of a unique state of inflammatory resistance via suppression of MCP1 induction. © 2016 The Obesity Society.

  16. Sp1 upregulates the proximal promoter activity of the mouse collagen α1(XI) gene (Col11a1) in chondrocytes.

    Science.gov (United States)

    Watanabe, Keijirou; Hida, Mariko; Sasaki, Takako; Yano, Hiroyuki; Kawano, Kenji; Yoshioka, Hidekatsu; Matsuo, Noritaka

    2016-02-01

    Type XI collagen is a cartilage-specific extracellular matrix, and is important for collagen fibril formation and skeletal morphogenesis. We have previously reported that NF-Y regulated the proximal promoter activity of the mouse collagen α1(XI) gene (Col11a1) in chondrocytes (Hida et. al. In Vitro Cell. Dev. Biol. Anim. 2014). However, the mechanism of the Col11a1 gene regulation in chondrocytes has not been fully elucidated. In this study, we further characterized the proximal promoter activity of the mouse Col11a1 gene in chondrocytes. Cell transfection experiments with deletion and mutation constructs indicated that the downstream region of the NF-Y binding site (-116 to +1) is also necessary to regulate the proximal promoter activity of the mouse Col11a1 gene. This minimal promoter region has no TATA box and GC-rich sequence; we therefore examined whether the GC-rich sequence (-96 to -67) is necessary for the transcription regulation of the Col11a1 gene. Luciferase assays using a series of mutation constructs exhibited that the GC-rich sequence is a critical element of Col11a1 promoter activity in chondrocytes. Moreover, in silico analysis of this region suggested that one of the most effective candidates was transcription factor Sp1. Consistent with the prediction, overexpression of Sp1 significantly increased the promoter activity. Furthermore, knockdown of Sp1 expression by siRNA transfection suppressed the proximal promoter activity and the expression of endogenous transcript of the mouse Col11a1 gene. Taken together, these results indicate that the transcription factor Sp1 upregulates the proximal promoter activity of the mouse Col11a1 gene in chondrocytes.

  17. Deficits in Col5a2 Expression Result in Novel Skin and Adipose Abnormalities and Predisposition to Aortic Aneurysms and Dissections.

    Science.gov (United States)

    Park, Arick C; Phan, Noel; Massoudi, Dawiyat; Liu, Zhenjie; Kernien, John F; Adams, Sheila M; Davidson, Jeffrey M; Birk, David E; Liu, Bo; Greenspan, Daniel S

    2017-10-01

    Classic Ehlers-Danlos syndrome (cEDS) is characterized by fragile, hyperextensible skin and hypermobile joints. cEDS can be caused by heterozygosity for missense mutations in genes COL5A2 and COL5A1, which encode the α2(V) and α1(V) chains, respectively, of collagen V, and is most often caused by COL5A1 null alleles. However, COL5A2 null alleles have yet to be associated with cEDS or other human pathologies. We previously showed that mice homozygous null for the α2(V) gene Col5a2 are early embryonic lethal, whereas haploinsufficiency caused aberrancies of adult skin, but not a frank cEDS-like phenotype, as skin hyperextensibility at low strain and dermal cauliflower-contoured collagen fibril aggregates, two cEDS hallmarks, were absent. Herein, we show that ubiquitous postnatal Col5a2 knockdown results in pathognomonic dermal cauliflower-contoured collagen fibril aggregates, but absence of skin hyperextensibility, demonstrating these cEDS hallmarks to arise separately from loss of collagen V roles in control of collagen fibril growth and nucleation events, respectively. Col5a2 knockdown also led to loss of dermal white adipose tissue (WAT) and markedly decreased abdominal WAT that was characterized by miniadipocytes and increased collagen deposition, suggesting α2(V) to be important to WAT development/maintenance. More important, Col5a2 haploinsufficiency markedly increased the incidence and severity of abdominal aortic aneurysms, and caused aortic arch ruptures and dissections, indicating that α2(V) chain deficits may play roles in these pathologies in humans. Copyright © 2017 American Society for Investigative Pathology. Published by Elsevier Inc. All rights reserved.

  18. Megafloods and Clovis cache at Wenatchee, Washington

    Science.gov (United States)

    Waitt, Richard B.

    2016-05-01

    Immense late Wisconsin floods from glacial Lake Missoula drowned the Wenatchee reach of Washington's Columbia valley by different routes. The earliest debacles, nearly 19,000 cal yr BP, raged 335 m deep down the Columbia and built high Pangborn bar at Wenatchee. As advancing ice blocked the northwest of Columbia valley, several giant floods descended Moses Coulee and backflooded up the Columbia past Wenatchee. Ice then blocked Moses Coulee, and Grand Coulee to Quincy basin became the westmost floodway. From Quincy basin many Missoula floods backflowed 50 km upvalley to Wenatchee 18,000 to 15,500 years ago. Receding ice dammed glacial Lake Columbia centuries more-till it burst about 15,000 years ago. After Glacier Peak ashfall about 13,600 years ago, smaller great flood(s) swept down the Columbia from glacial Lake Kootenay in British Columbia. The East Wenatchee cache of huge fluted Clovis points had been laid atop Pangborn bar after the Glacier Peak ashfall, then buried by loess. Clovis people came five and a half millennia after the early gigantic Missoula floods, two and a half millennia after the last small Missoula flood, and two millennia after the glacial Lake Columbia flood. People likely saw outburst flood(s) from glacial Lake Kootenay.

  19. Presidential Symposia and Events: Washington, DC

    Science.gov (United States)

    Walworth, Frank

    2009-08-01

    ACS President Thomas H. Lane has designated two presidential events (both organized by Sadiq Shah, Associate Vice President, Office of Research and Economic Development, Western Kentucky University) at the Washington, DC meeting to highlight the theme: "Chemistry and Global Security: Challenges and Opportunities". The location and the timing of the meeting give ACS a unique opportunity to address questions related to chemistry and global security. The location will facilitate access to the funding agencies that can present the global security challenges and opportunities to be addressed over the next decade or so, as well as to a new administration that will be looking for ideas and a dialogue with the scientific community to set an agenda for the next four years or more. Most importantly, this is a unique opportunity for the ACS divisional program planning leadership to showcase the creative solutions of chemistry by creating programming that addresses these themes. This broad theme allows chemists from all specialties to participate by assembling innovative symposia that they feel best showcase their efforts.

  20. Megafloods and Clovis cache at Wenatchee, Washington

    Science.gov (United States)

    Waitt, Richard B.

    2016-01-01

    Immense late Wisconsin floods from glacial Lake Missoula drowned the Wenatchee reach of Washington's Columbia valley by different routes. The earliest debacles, nearly 19,000 cal yr BP, raged 335 m deep down the Columbia and built high Pangborn bar at Wenatchee. As advancing ice blocked the northwest of Columbia valley, several giant floods descended Moses Coulee and backflooded up the Columbia past Wenatchee. Ice then blocked Moses Coulee, and Grand Coulee to Quincy basin became the westmost floodway. From Quincy basin many Missoula floods backflowed 50 km upvalley to Wenatchee 18,000 to 15,500 years ago. Receding ice dammed glacial Lake Columbia centuries more—till it burst about 15,000 years ago. After Glacier Peak ashfall about 13,600 years ago, smaller great flood(s) swept down the Columbia from glacial Lake Kootenay in British Columbia. The East Wenatchee cache of huge fluted Clovis points had been laid atop Pangborn bar after the Glacier Peak ashfall, then buried by loess. Clovis people came five and a half millennia after the early gigantic Missoula floods, two and a half millennia after the last small Missoula flood, and two millennia after the glacial Lake Columbia flood. People likely saw outburst flood(s) from glacial Lake Kootenay.

  1. Quality of water, Quillayute River basin, Washington

    Science.gov (United States)

    Fretwell, M.O.

    1984-01-01

    Groundwater in Quillayute River basin is generally of the calcium bicarbonate type, although water from some wells is affected by seawater intrusion and is predominantly of the sodium chloride type. The water is generally of excellent quality for most uses. River-water quality was generally excellent, as evaluated against Washington State water-use and water-quality criteria. Fecal coliform concentrations in all major tributaries met State water-quality criteria; water temperatures occasionally exceeded criteria maximum during periods of warm weather and low streamflow. Nutrient concentrations were generally low to very low. The four largest lakes in the basin were temperature-stratified in summer and one had an algal bloom. The Quillayute estuary had salt-wedge mixing characteristics; pollutants entering the salt wedge tended to spread to the toe of the wedge. Upwelling ocean water was the major cause of the low dissolved-oxygen concentrations observed in the estuary; ammonia concentrations in the estuary, however, were increased by the upwelling ocean waters. As in the rivers, total-coliform bacteria concentrations in the estuary were greater than fecal-coliform concentrations, indicating that many of the bacteria were of nonfecal origin and probably originated from soils. (USGS)

  2. Antarctic Treaty Summit: Washington, DC (2009)

    Science.gov (United States)

    Berkman, P. A.; Young, O. R.

    2005-12-01

    Advancement in Earth system science and international cooperation have been intertwined with the International Polar Years since 1882. In particular, the 3rd International Polar Year (which was convened as the International Geophysical Year from 1 July 1957 through 31 December 1958) specifically demonstrates the role of science in international policy: Acknowledging the substantial contributions to scientific knowledge resulting from international cooperation in scientific investigation in Antarctica; Convinced that the establishment of a firm foundation for the continuation and development of such cooperation on the basis of freedom of scientific investigation in Antarctica as applied during the International Geophysical Year accords with the interests of science and the progress of all mankind; Preamble, 1959 Antarctic Treaty To commemorate the 50th anniversary of the 1959 Antarctic Treaty and to explore the complexities of the science-policy relationship through the lens of a well-constrained case study, an international and interdisciplinary Antarctic Treaty Summit is being planned for 2009 in Washington, DC in conjunction with the International Polar Year 2007-08 (http://www.ipy.org).

  3. Screening and analysis of a new mutation of COL1A1 gene in a family with osteogenesis imperfecta%一个成骨不全家系COL1A1基因的突变筛查

    Institute of Scientific and Technical Information of China (English)

    白雪; 李克秋; 任秀智; 何晓波; 王毅; 官士珍; 景亚青; 李光

    2014-01-01

    Objective To investigate mutation of COL1A1 gene and analyze the relationship between genotype and clinical phenotype in a family with osteogenesis imperfecta (OI).Methods The family history of an OI pedigree,along with clinical data,was collected.Blood samples from the proband and his families,as well as 50 normal controls,were collected.Mutation of COL1A1 gene was screened using PCR-high resolution melting (PCR-HRM) and validated by sequencing.Results PCR-HRM method showed an abnormal result in proband COL1A1 33_34 exons,which Tm was 87.7℃,in contrast to the normal control (wt) Tm of 87.9 ℃ ± 0.06℃.There was a significant difference between the proband and the normal control with the standardization curve and the difference curves.DNA sequencing showed that COL1A1 gene exons 33_34 has lost a C base (c.2321delC),which resulted in a frameshift mutation and caused an premature termination codon (UAA) at amino acid 334,i.e.,p.Pro774LeufsX334.The father and grandfather of the proband,both suffered from OI,were verified to be heterozygous for the same mutation.The same mutation was not found in 50 normal controls.Database search confirmed this to be a novel mutation.Pedigree analysis suggested that it has an autosomal dominant inheritance.The proband and patients from the family were clinically diagnosed as OI type Ⅰ.Conclusion The study has identified a novel mutation of COL1A1 gene,c.2321delC.This frameshift mutation has caused a premature stop codon and reduced collagen type Ⅰ synthesis,characterized by a lighter OI clinical phenotype.%目的 筛查1个成骨不全(osteogenesis imperfecta,OI)家系中COL1A1基因的突变,并分析基因型与临床表型的关系.方法 收集先证者及家系成员临床资料,采集先证者、随诊家属及50名正常对照的外周血标本,应用PCR-高分辨率熔解曲线(high resolution melting,HRM)分析筛查COL1A1基因突变,基因测序确定突变位点.结果 PCR-HRM分析显示,先证者COL1A1

  4. Progression of Alport Kidney Disease in Col4a3 Knock Out Mice Is Independent of Sex or Macrophage Depletion by Clodronate Treatment.

    Directory of Open Access Journals (Sweden)

    Munkyung Kim

    Full Text Available Alport syndrome is a genetic disease of collagen IV (α3, 4, 5 resulting in renal failure. This study was designed to investigate sex-phenotype correlations and evaluate the contribution of macrophage infiltration to disease progression using Col4a3 knock out (Col4a3KO mice, an established genetic model of autosomal recessive Alport syndrome. No sex differences in the evolution of body mass loss, renal pathology, biomarkers of tubular damage KIM-1 and NGAL, or deterioration of kidney function were observed during the life span of Col4a3KO mice. These findings confirm that, similar to human autosomal recessive Alport syndrome, female and male Col4a3KO mice develop renal failure at the same age and with similar severity. The specific contribution of macrophage infiltration to Alport disease, one of the prominent features of the disease in human and Col4a3KO mice, remains unknown. This study shows that depletion of kidney macrophages in Col4a3KO male mice by administration of clodronate liposomes, prior to clinical onset of disease and throughout the study period, does not protect the mice from renal failure and interstitial fibrosis, nor delay disease progression. These results suggest that therapy targeting macrophage recruitment to kidney is unlikely to be effective as treatment of Alport syndrome.

  5. Physical and linkage mapping of the human and murine genes for the [alpha]1 chain of type IX collagen (COL9A1)

    Energy Technology Data Exchange (ETDEWEB)

    Warman, M.L. (Harvard Medical School, Boston, MA (United States) Children' s Hospital/Harvard Medical School, Boston, MA (United States)); Tiller, G.E.; Polumbo, P.A. (Vanderbilt Univ. Medical Center, Nashville, TN (United States)); Seldin, M.F.; Rochelle, J.M. (Duke Univ. Medical Center, Durham, NC (United States)); Knoll, J.H.M.; Cheng, Sou De (Children' s Hospital/Harvard Medical School, Boston, MA (United States)); Olsen, B.R. (Harvard Medical School, Boston, MA (United States))

    1993-09-01

    The IX collagen, a member of the FACIT family of extracellular matrix proteins, is a heterotrimer composed of three genetically distinct [alpha] chains. The cDNAs for the human and mouse [alpha]1(IX) chains have been cloned. In this paper the authors confirm the mapping of the human COL9A1 gene to chromosome 6q12-q13 by fluorescence in situ hybridization utilizing two genomic clones which also contain short tandem repeat polymorphisms. They also report the characterization of these repeats and their incorporation into the chromosome 6 linkage map. The COL9A1 locus shows no recombination with the marker D6Z1 (Z = 27.61 at [theta] = 0) and identifies the most likely locus order of KRAS1P-[D6Z1-COL9A1]-D6S30. In addition, using an interspecific backcross panel, they have mapped murine Col9a1 to mouse chromosome 1. Together with other comparative mapping results, these data suggest that the pericentric region of human chromosome 6 is homologous to the most proximal segment of mouse chromosome 1. These data may facilitate linkage studies with COL9A1 (or col9a1) as a candidate gene for hereditary chondrodysplasias and osteoarthritis. 35 refs., 2 figs., 2 tabs.

  6. Identification of a novel COL1A1 frameshift mutation, c.700delG, in a Chinese osteogenesis imperfecta family.

    Science.gov (United States)

    Wang, Xiran; Pei, Yu; Dou, Jingtao; Lu, Juming; Li, Jian; Lv, Zhaohui

    2015-03-01

    Osteogenesis imperfecta (OI) is a family of genetic disorders associated with bone loss and fragility. Mutations associated with OI have been found in genes encoding the type I collagen chains. People with OI type I often produce insufficient α1-chain type I collagen because of frameshift, nonsense, or splice site mutations in COL1A1 or COL1A2. This report is of a Chinese daughter and mother who had both experienced two bone fractures. Because skeletal fragility is predominantly inherited, we focused on identifying mutations in COL1A1 and COL1A2 genes. A novel mutation in COL1A1, c.700delG, was detected by genomic DNA sequencing in the mother and daughter, but not in their relatives. The identification of this mutation led to the conclusion that they were affected by mild OI type I. Open reading frame analysis indicated that this frameshift mutation would truncate α1-chain type I collagen at residue p263 (p.E234KfsX264), while the wild-type protein would contain 1,464 residues. The clinical data were consistent with the patients' diagnosis of mild OI type I caused by haploinsufficiency of α1-chain type I collagen. Combined with previous reports, identification of the novel mutation COL1A1-c.700delG in these patients suggests that additional genetic and environmental factors may influence the severity of OI.

  7. Identification of a novel COL1A1 frameshift mutation, c.700delG, in a Chinese osteogenesis imperfecta family

    Science.gov (United States)

    Wang, Xiran; Pei, Yu; Dou, Jingtao; Lu, Juming; Li, Jian; Lv, Zhaohui

    2015-01-01

    Osteogenesis imperfecta (OI) is a family of genetic disorders associated with bone loss and fragility. Mutations associated with OI have been found in genes encoding the type I collagen chains. People with OI type I often produce insufficient α1-chain type I collagen because of frameshift, nonsense, or splice site mutations in COL1A1 or COL1A2. This report is of a Chinese daughter and mother who had both experienced two bone fractures. Because skeletal fragility is predominantly inherited, we focused on identifying mutations in COL1A1 and COL1A2 genes. A novel mutation in COL1A1, c.700delG, was detected by genomic DNA sequencing in the mother and daughter, but not in their relatives. The identification of this mutation led to the conclusion that they were affected by mild OI type I. Open reading frame analysis indicated that this frameshift mutation would truncate α1-chain type I collagen at residue p263 (p.E234KfsX264), while the wild-type protein would contain 1,464 residues. The clinical data were consistent with the patients’ diagnosis of mild OI type I caused by haploinsufficiency of α1-chain type I collagen. Combined with previous reports, identification of the novel mutation COL1A1-c.700delG in these patients suggests that additional genetic and environmental factors may influence the severity of OI. PMID:25983617

  8. COL4A1 mutations cause ocular dysgenesis, neuronal localization defects, and myopathy in mice and Walker-Warburg syndrome in humans.

    Directory of Open Access Journals (Sweden)

    Cassandre Labelle-Dumais

    2011-05-01

    Full Text Available Muscle-eye-brain disease (MEB and Walker Warburg Syndrome (WWS belong to a spectrum of autosomal recessive diseases characterized by ocular dysgenesis, neuronal migration defects, and congenital muscular dystrophy. Until now, the pathophysiology of MEB/WWS has been attributed to alteration in dystroglycan post-translational modification. Here, we provide evidence that mutations in a gene coding for a major basement membrane protein, collagen IV alpha 1 (COL4A1, are a novel cause of MEB/WWS. Using a combination of histological, molecular, and biochemical approaches, we show that heterozygous Col4a1 mutant mice have ocular dysgenesis, neuronal localization defects, and myopathy characteristic of MEB/WWS. Importantly, we identified putative heterozygous mutations in COL4A1 in two MEB/WWS patients. Both mutations occur within conserved amino acids of the triple-helix-forming domain of the protein, and at least one mutation interferes with secretion of the mutant proteins, resulting instead in intracellular accumulation. Expression and posttranslational modification of dystroglycan is unaltered in Col4a1 mutant mice indicating that COL4A1 mutations represent a distinct pathogenic mechanism underlying MEB/WWS. These findings implicate a novel gene and a novel mechanism in the etiology of MEB/WWS and expand the clinical spectrum of COL4A1-associated disorders.

  9. LiDAR (Terrain), THURSTON COUNTY, WASHINGTON, USA

    Data.gov (United States)

    Federal Emergency Management Agency, Department of Homeland Security — Fugro EarthData Company furnished the collection, processing, and development of LiDAR for 825 square miles in Washington (805 square miles of Thurston County and 20...

  10. Washington Islands National Wildlife Refuge: Narrative Report: 1992: Calendar Year

    Data.gov (United States)

    US Fish and Wildlife Service, Department of the Interior — This annual narrative report for Washington Islands National Wildlife Refuges (Flattery Rocks, Quillayute Needles, and Copalis Rock National Wildlife Refuges)...

  11. EAARL Topography--George Washington Birthplace National Monument 2008

    Data.gov (United States)

    U.S. Geological Survey, Department of the Interior — A first surface/bare earth elevation map (also known as a Digital Elevation Model, or DEM) of the George Washington Birthplace National Monument in Virginia was...

  12. Bathymetric Contours for Lake Darling, Washington County, Iowa

    Data.gov (United States)

    U.S. Geological Survey, Department of the Interior — This data set consists of digital bathymetry contours for Lake Darling in Washington Co., Iowa. The U.S. Geological Survey conducted a bathymetric survey of Lake...

  13. Timber resource statistics for the Olympic Peninsula, Washington.

    Science.gov (United States)

    Patricia M. Bassett; Daniel D. Oswald

    1961-01-01

    This report summarizes a 1978-79 timber resource inventory of five counties in the Olympic Peninsula of Washington: Clallam, Grays Harbor, Jefferson, Mason, and Thurston. Detailed tables of forest area, timber volume, growth, mortality, and harvest are presented.

  14. Toke Point, Washington Tsunami Forecast Grids for MOST Model

    Data.gov (United States)

    National Oceanic and Atmospheric Administration, Department of Commerce — The Toke Point, Washington Forecast Model Grids provides bathymetric data strictly for tsunami inundation modeling with the Method of Splitting Tsunami (MOST) model....

  15. Final Report: Feasibility Study of Biomass in Snohomish County, Washington

    Energy Technology Data Exchange (ETDEWEB)

    Daryl Williams (Tulalip Tribes); Ray Clark (Clark Group)

    2005-01-31

    This report and its attachments summarizes the results of a unique tribal-farmer cooperative study to evaluate the feasibility of building one or more regional anaerobic digestion systems in Snohomish County, Washington.

  16. EAARL Topography--George Washington Birthplace National Monument 2008

    Data.gov (United States)

    U.S. Geological Survey, Department of the Interior — A first surface/bare earth elevation map (also known as a Digital Elevation Model, or DEM) of the George Washington Birthplace National Monument in Virginia was...

  17. Monsanto Gives Washington U. $23.5 Million.

    Science.gov (United States)

    Culliton, Barbara J.

    1982-01-01

    Reviews various provisions of a five-year, $23.5-million research agreement between Washington University and the Monsanto Company. The scientific focus of this venture will be on proteins and peptides which modify cellular behavior. (SK)

  18. Washington Islands National Wildlife Refuge: Narrative Report: 1988: Calendar Year

    Data.gov (United States)

    US Fish and Wildlife Service, Department of the Interior — This annual narrative report for Washington Islands NWRs (Flattery Rocks, Quillayute Needles, and Copalis Rock NWRs) outlines Refuge accomplishments during the 1988...

  19. La Push, Washington Tsunami Forecast Grids for MOST Model

    Data.gov (United States)

    National Oceanic and Atmospheric Administration, Department of Commerce — The La Push, Washington Forecast Model Grids provides bathymetric data strictly for tsunami inundation modeling with the Method of Splitting Tsunami (MOST) model....

  20. Port Angeles, Washington Tsunami Forecast Grids for MOST Model

    Data.gov (United States)

    National Oceanic and Atmospheric Administration, Department of Commerce — The Port Angeles, Washington Forecast Model Grids provides bathymetric data strictly for tsunami inundation modeling with the Method of Splitting Tsunami (MOST)...

  1. Annotated Bibliography of the Washington-DuBois Controversy.

    Science.gov (United States)

    Miller, Jan

    1994-01-01

    Provides an annotated bibliography of articles and books published prior to 1994 that contain information relevant to the Washington-Dubois debate. References are listed alphabetically by author and cover the years 1901 through 1993. (GLR)

  2. Four Washington companies resolve violations of federal chemical storage laws

    Science.gov (United States)

    (Seattle-July 13, 2015) Four Washington companies have signed settlements for violations of federal chemical storage laws, according to the U.S. Environmental Protection Agency. EPA's investigations found that the companies failed to properly report storag

  3. Westport, Washington Tsunami Forecast Grids for MOST Model

    Data.gov (United States)

    National Oceanic and Atmospheric Administration, Department of Commerce — The Westport, Washington Forecast Model Grids provides bathymetric data strictly for tsunami inundation modeling with the Method of Splitting Tsunami (MOST) model....

  4. Neah Bay, Washington Tsunami Forecast Grids for MOST Model

    Data.gov (United States)

    National Oceanic and Atmospheric Administration, Department of Commerce — The Neah Bay, Washington Forecast Model Grids provides bathymetric data strictly for tsunami inundation modeling with the Method of Splitting Tsunami (MOST) model....

  5. Parcels and Land Ownership, Published in 2011, Washington County Government.

    Data.gov (United States)

    NSGIC GIS Inventory (aka Ramona) — This Parcels and Land Ownership dataset as of 2011. The extent of these data is generally Washington County, OK. This metadata was auto-generated through the Ramona...

  6. Attitudes of Washington State physicians toward health care reform.

    OpenAIRE

    Malter, A D; Emerson, L L; Krieger, J. W.

    1994-01-01

    Attitudes of Washington State physicians about health care reform and about specific elements of managed competition and single-payer proposals were evaluated. Opinions about President Clinton's reform plan were also assessed. Washington physicians (n = 1,000) were surveyed from October to November 1993, and responses were collected through January 1994; responses were anonymous. The response rate was 80%. Practice characteristics of respondents did not differ from other physicians in the sta...

  7. Environmental contaminant analysis of sea otters and prey from coastal Washington of the Washington Maritime NWR Complex

    Data.gov (United States)

    US Fish and Wildlife Service, Department of the Interior — Analyses of blood and liver samples from live captured sea otters and liver samples from beach-cast sea otter carcasses off the remote Washington coast indicate...

  8. A mobilidade humana na tríplice fronteira: Peru, Brasil e Colômbia

    Directory of Open Access Journals (Sweden)

    Márcia Maria de Oliveira

    2006-08-01

    Full Text Available OS MOVIMENTOS migratórios nas fronteiras amazônicas ainda são pouco abordados, tanto pela academia quanto pelas instituições que lidam com a temática da mi-gração. Há elementos novos que configuram características peculiares à mobilidade humana na tríplice fronteira Peru-Colômbia-Brasil que merecem uma abordagem mais profunda do ponto de vista dos estudos migratórios. Atualmente, há fluxos conside-ráveis de migração internacional nessa região adentrando na fronteira brasileira, desafiando o Estado brasileiro a implementar uma política migratória que consiga lidar com fenômenos, tais como a presença de peruanos em situação irregular em território brasileiro, a mobilidade dos povos indígenas nas regiões de fronteira e ainda, mais recentemente, a entrada crescente de colombianos desplazados pela guerrilha interna que pedem refúgio ao Estado brasileiro.THE MIGRATORY mobility in the Amazonian borders is less than enough investigated, neither by the academy nor by the institutions that deal with the migration question. There are new elements that depict peculiar characteristics to the human mobility in the triple border of Peru, Colombia and Brazil, that deserve a deeper investigation from the view point of the migratory studies. At the moment, it has conside-rable flows of international migration in this region moving in the Brazilian border, challenging the Brazilian State to implement a migratory policy that is able to deal with the phenomena such as the presence of Peruvians in an irregular situation in Brazilian territory, the mobility of the indigenous peoples in the border regions and still, more recently, the increasing entrance of the Colombians desplazados through the internal guerrilla who ask for shelter to the Brazilian State.

  9. Evolution of a highly vulnerable ice-cored moraine: Col des Gentianes, Swiss Alps

    Science.gov (United States)

    Ravanel, L.; Lambiel, C.; Oppikofer, T.; Mazotti, B.; Jaboyedoff, M.

    2012-04-01

    Rock mass movements are dominant in the morphodynamics of high mountain rock slopes and are at the origin of significant risks for people who attend these areas and for infrastructures that are built on (mountain huts, cable cars, etc.). These risks are becoming greater because of permafrost degradation and glacier retreat, two consequences of the global warming. These two commonly associated factors may affect slope stability by changing mechanical properties of the interstitial ice and modifying the mechanical constraints in these rock slopes. Between 1977 and 1979, significant works were carried out on the Little Ice Age moraine of the Tortin glacier at the Col des Gentianes (2894 m), in the Mont Fort area (Verbier, Switzerland), for the construction of a cable car station and a restaurant. Since the early 1980s, the glacier drastically retreated and the moraine became unstable: its inner slope has retreated for several meters. Various observations and geoelectric measurements indicate that significant volume of massive ice mass is still present within the moraine (ice-cored moraine). Its melting could therefore increase the instability of the moraine. Since 2007, the moraine is surveyed by terrestrial laser scanning (TLS) in order to characterize its evolution: 8 campaigns were conducted between July 2007 and October 2011. The comparison of the high resolution 3D models so obtained allowed the detection and quantification of mass movements that have affected the moraine over this period, essentially by calculating difference maps (shortest oblique distances between two models). Between July 2007 and October 2011, 7 landslides were measured, involving volumes between 87 and 1138 m3. The most important of these occurred during the summers 2009 and 2011. TLS data also allowed identifying: (i) two main areas affected by slower but sometimes substantial movements (displacements of blocks on more than 2 m during a summer period); (ii) significant deposits of

  10. Molecular evolution and phylogenetic analysis of eight COL superfamily genes in group I related to photoperiodic regulation of flowering time in wild and domesticated cotton (Gossypium species.

    Directory of Open Access Journals (Sweden)

    Rui Zhang

    Full Text Available Flowering time is an important ecological trait that determines the transition from vegetative to reproductive growth. Flowering time in cotton is controlled by short-day photoperiods, with strict photoperiod sensitivity. As the CO-FT (CONSTANS-FLOWER LOCUS T module regulates photoperiodic flowering in several plants, we selected eight CONSTANS genes (COL in group I to detect their expression patterns in long-day and short-day conditions. Further, we individually cloned and sequenced their homologs from 25 different cotton accessions and one outgroup. Finally, we studied their structures, phylogenetic relationship, and molecular evolution in both coding region and three characteristic domains. All the eight COLs in group I show diurnal expression. In the orthologous and homeologous loci, each gene structure in different cotton species is highly conserved, while length variation has occurred due to insertions/deletions in intron and/or exon regions. Six genes, COL2 to COL5, COL7 and COL8, exhibit higher nucleotide diversity in the D-subgenome than in the A-subgenome. The Ks values of 98.37% in all allotetraploid cotton species examined were higher in the A-D and At-Dt comparison than in the A-At and D-Dt comparisons, and the Pearson's correlation coefficient (r of Ks between A vs. D and At vs. Dt also showed positive, high correlations, with a correlation coefficient of at least 0.797. The nucleotide polymorphism in wild species is significantly higher compared to G. hirsutum and G. barbadense, indicating a genetic bottleneck associated with the domesticated cotton species. Three characteristic domains in eight COLs exhibit different evolutionary rates, with the CCT domain highly conserved, while the B-box and Var domain much more variable in allotetraploid species. Taken together, COL1, COL2 and COL8 endured greater selective pressures during the domestication process. The study improves our understanding of the domestication-related genes

  11. Modeling landslide recurrence in Seattle, Washington, USA

    Science.gov (United States)

    Salciarini, Diana; Godt, Jonathan W.; Savage, William Z.; Baum, Rex L.; Conversini, Pietro

    2008-01-01

    To manage the hazard associated with shallow landslides, decision makers need an understanding of where and when landslides may occur. A variety of approaches have been used to estimate the hazard from shallow, rainfall-triggered landslides, such as empirical rainfall threshold methods or probabilistic methods based on historical records. The wide availability of Geographic Information Systems (GIS) and digital topographic data has led to the development of analytic methods for landslide hazard estimation that couple steady-state hydrological models with slope stability calculations. Because these methods typically neglect the transient effects of infiltration on slope stability, results cannot be linked with historical or forecasted rainfall sequences. Estimates of the frequency of conditions likely to cause landslides are critical for quantitative risk and hazard assessments. We present results to demonstrate how a transient infiltration model coupled with an infinite slope stability calculation may be used to assess shallow landslide frequency in the City of Seattle, Washington, USA. A module called CRF (Critical RainFall) for estimating deterministic rainfall thresholds has been integrated in the TRIGRS (Transient Rainfall Infiltration and Grid-based Slope-Stability) model that combines a transient, one-dimensional analytic solution for pore-pressure response to rainfall infiltration with an infinite slope stability calculation. Input data for the extended model include topographic slope, colluvial thickness, initial water-table depth, material properties, and rainfall durations. This approach is combined with a statistical treatment of rainfall using a GEV (General Extreme Value) probabilistic distribution to produce maps showing the shallow landslide recurrence induced, on a spatially distributed basis, as a function of rainfall duration and hillslope characteristics.

  12. Natural gas pipeline leaks across Washington, DC.

    Science.gov (United States)

    Jackson, Robert B; Down, Adrian; Phillips, Nathan G; Ackley, Robert C; Cook, Charles W; Plata, Desiree L; Zhao, Kaiguang

    2014-01-01

    Pipeline safety in the United States has increased in recent decades, but incidents involving natural gas pipelines still cause an average of 17 fatalities and $133 M in property damage annually. Natural gas leaks are also the largest anthropogenic source of the greenhouse gas methane (CH4) in the U.S. To reduce pipeline leakage and increase consumer safety, we deployed a Picarro G2301 Cavity Ring-Down Spectrometer in a car, mapping 5893 natural gas leaks (2.5 to 88.6 ppm CH4) across 1500 road miles of Washington, DC. The δ(13)C-isotopic signatures of the methane (-38.2‰ ± 3.9‰ s.d.) and ethane (-36.5 ± 1.1 s.d.) and the CH4:C2H6 ratios (25.5 ± 8.9 s.d.) closely matched the pipeline gas (-39.0‰ and -36.2‰ for methane and ethane; 19.0 for CH4/C2H6). Emissions from four street leaks ranged from 9200 to 38,200 L CH4 day(-1) each, comparable to natural gas used by 1.7 to 7.0 homes, respectively. At 19 tested locations, 12 potentially explosive (Grade 1) methane concentrations of 50,000 to 500,000 ppm were detected in manholes. Financial incentives and targeted programs among companies, public utility commissions, and scientists to reduce leaks and replace old cast-iron pipes will improve consumer safety and air quality, save money, and lower greenhouse gas emissions.

  13. Homozygosity mapping and whole exome sequencing reveal a novel homozygous COL18A1 mutation causing Knobloch syndrome.

    Directory of Open Access Journals (Sweden)

    Alireza Haghighi

    Full Text Available The aim of this study was to identify the genetic basis of a chorioretinal dystrophy with high myopia of unknown origin in a child of a consanguineous marriage. The proband and ten family members of Iranian ancestry participated in this study. Linkage analysis was carried out with DNA samples of the proband and her parents by using the Human SNP Array 6.0. Whole exome sequencing (WES was performed with the patients' DNA. Specific sequence alterations within the homozygous regions identified by whole exome sequencing were verified by Sanger sequencing. Upon genetic analysis, a novel homozygous frameshift mutation was found in exon 42 of the COL18A1 gene in the patient. Both parents were heterozygous for this sequence variation. Mutations in COL18A1 are known to cause Knobloch syndrome (KS. Retrospective analysis of clinical records of the patient revealed surgical removal of a meningocele present at birth. The clinical features shown by our patient were typical of KS with the exception of chorioretinal degeneration which is a rare manifestation. This is the first case of KS reported in a family of Iranian ancestry. We identified a novel disease-causing (deletion mutation in the COL18A1 gene leading to a frameshift and premature stop codon in the last exon. The mutation was not present in SNP databases and was also not found in 192 control individuals. Its localization within the endostatin domain implicates a functional relevance of endostatin in KS. A combined approach of linkage analysis and WES led to a rapid identification of the disease-causing mutation even though the clinical description was not completely clear at the beginning.

  14. Two Rare Mutations in the COL1A2 Gene Associate With Low Bone Mineral Density and Fractures in Iceland.

    Science.gov (United States)

    Styrkarsdottir, Unnur; Thorleifsson, Gudmar; Eiriksdottir, Berglind; Gudjonsson, Sigurjon A; Ingvarsson, Thorvaldur; Center, Jacqueline R; Nguyen, Tuan V; Eisman, John A; Christiansen, Claus; Thorsteinsdottir, Unnur; Sigurdsson, Gunnar; Stefansson, Kari

    2016-01-01

    We conducted a genome-wide association study of low bone mineral density (BMD) at the hip and spine utilizing sequence variants found through whole-genome sequencing of 2636 Icelanders. We found two rare missense mutations, p.Gly496Ala and p.Gly703Ser, in the COL1A2 gene that associate with measures of osteoporosis in Icelanders. Mutations in COL1A2 are known to cause the autosomal dominant disorder osteogenesis imperfecta. Both variants associate with low BMD and with osteoporotic fractures. p.Gly496Ala (frequency of 0.105%) shows the strongest association with low BMD at the spine (p = 1.8 × 10(-7) , odds ratio [OR] = 4.61 [95% confidence interval (CI) 2.59, 8.18]), whereas p.Gly703Ser (frequency of 0.050%) is most strongly associated with low BMD at the hip (p = 1.9 × 10(-8) , OR = 9.34 [95% CI 4.28, 20.3]). Association with fractures was p = 2.2 × 10(-5) , OR = 3.75 (95% CI 2.03, 6.93) and p = 0.0023, OR = 4.32 (95% CI 1.69, 11.1), respectively. The carriers of these variants do not have signs of osteogenesis imperfecta other than low BMD, demonstrating that similar mutations in COL1A2 can affect skeletal phenotypes in more than one way.

  15. Transcriptional repression of the Dspp gene leads to dentinogenesis imperfecta phenotype in Col1a1-Trps1 transgenic mice.

    Science.gov (United States)

    Napierala, Dobrawa; Sun, Yao; Maciejewska, Izabela; Bertin, Terry K; Dawson, Brian; D'Souza, Rena; Qin, Chunlin; Lee, Brendan

    2012-08-01

    Dentinogenesis imperfecta (DGI) is a hereditary defect of dentin, a calcified tissue that is the most abundant component of teeth. Most commonly, DGI is manifested as a part of osteogenesis imperfecta (OI) or the phenotype is restricted to dental findings only. In the latter case, DGI is caused by mutations in the DSPP gene, which codes for dentin sialoprotein (DSP) and dentin phosphoprotein (DPP). Although these two proteins together constitute the majority of noncollagenous proteins of the dentin, little is known about their transcriptional regulation. Here we demonstrate that mice overexpressing the Trps1 transcription factor (Col1a1-Trps1 mice) in dentin-producing cells, odontoblasts, present with severe defects of dentin formation that resemble DGI. Combined micro-computed tomography (µCT) and histological analyses revealed tooth fragility due to severe hypomineralization of dentin and a diminished dentin layer with irregular mineralization in Col1a1-Trps1 mice. Biochemical analyses of noncollagenous dentin matrix proteins demonstrated decreased levels of both DSP and DPP proteins in Col1a1-Trps1 mice. On the molecular level, we demonstrated that sustained high levels of Trps1 in odontoblasts lead to dramatic decrease of Dspp expression as a result of direct inhibition of the Dspp promoter by Trps1. During tooth development Trps1 is highly expressed in preodontoblasts, but in mature odontoblasts secreting matrix its expression significantly decreases, which suggests a Trps1 role in odontoblast development. In these studies we identified Trps1 as a potent inhibitor of Dspp expression and the subsequent mineralization of dentin. Thus, we provide novel insights into mechanisms of transcriptional dysregulation that leads to DGI.

  16. Cytotoxic effects of tetracycline analogues (doxycycline, minocycline and COL-3 in acute myeloid leukemia HL-60 cells.

    Directory of Open Access Journals (Sweden)

    Hairong Song

    Full Text Available Tetracycline analogues (TCNAs have been shown to inhibit matrix metalloproteinases and to induce apoptosis in several cancer cell types. In the present study, the cytotoxic effects of TCNAs doxycycline (DOXY, minocycline (MINO and chemically modified tetracycline-3 (COL-3 were investigated in the human acute myeloid leukemia HL-60 cell line. Cells were incubated with TCNAs in final concentrations of 0.5-100 µg/ml for 24 h. Viability of the leukemic cells was inhibited in a concentration-dependent manner using resazurin assay. The estimated IC50s were 9.2 µg/ml for DOXY, 9.9 µg/ml for MINO and 1.3 µg/ml for COL-3. All three TCNAs induced potent cytotoxic effects and cell death. Apoptosis, which was assessed by morphological changes and annexin V positivity, was concentration- and time-dependent following incubation with any one of the drugs. TCNAs induced DNA double strand breaks soon after treatment commenced as detected by γH2AX and western blot. The loss of mitochondrial membrane potential (Δψm, caspase activation and cleavage of PARP and Bcl-2 were observed; however, the sequence of events differed among the drugs. Pancaspase inhibitor Z-VAD-FMK improved survival of TCNAs-treated cells and decreased TCNAs-induced apoptosis. In summary, we demonstrated that TCNAs had a cytotoxic effect on the HL-60 leukemic cell line. Apoptosis was induced via mitochondria-mediated and caspase-dependent pathways in HL-60 cells by all three TCNAs. COL-3 exerted the strongest anti-proliferative and pro-apoptotic effects in concentrations that have been achieved in human plasma in reported clinical trials. These results indicate that there is a therapeutic potential of TCNAs in leukemia.

  17. Cytotoxic effects of tetracycline analogues (doxycycline, minocycline and COL-3) in acute myeloid leukemia HL-60 cells.

    Science.gov (United States)

    Song, Hairong; Fares, Mona; Maguire, Kim R; Sidén, Ake; Potácová, Zuzana

    2014-01-01

    Tetracycline analogues (TCNAs) have been shown to inhibit matrix metalloproteinases and to induce apoptosis in several cancer cell types. In the present study, the cytotoxic effects of TCNAs doxycycline (DOXY), minocycline (MINO) and chemically modified tetracycline-3 (COL-3) were investigated in the human acute myeloid leukemia HL-60 cell line. Cells were incubated with TCNAs in final concentrations of 0.5-100 µg/ml for 24 h. Viability of the leukemic cells was inhibited in a concentration-dependent manner using resazurin assay. The estimated IC50s were 9.2 µg/ml for DOXY, 9.9 µg/ml for MINO and 1.3 µg/ml for COL-3. All three TCNAs induced potent cytotoxic effects and cell death. Apoptosis, which was assessed by morphological changes and annexin V positivity, was concentration- and time-dependent following incubation with any one of the drugs. TCNAs induced DNA double strand breaks soon after treatment commenced as detected by γH2AX and western blot. The loss of mitochondrial membrane potential (Δψm), caspase activation and cleavage of PARP and Bcl-2 were observed; however, the sequence of events differed among the drugs. Pancaspase inhibitor Z-VAD-FMK improved survival of TCNAs-treated cells and decreased TCNAs-induced apoptosis. In summary, we demonstrated that TCNAs had a cytotoxic effect on the HL-60 leukemic cell line. Apoptosis was induced via mitochondria-mediated and caspase-dependent pathways in HL-60 cells by all three TCNAs. COL-3 exerted the strongest anti-proliferative and pro-apoptotic effects in concentrations that have been achieved in human plasma in reported clinical trials. These results indicate that there is a therapeutic potential of TCNAs in leukemia.

  18. Characterization of drCol 15a1b: a novel component of the stem cell niche in the zebrafish retina.

    Science.gov (United States)

    Gonzalez-Nunez, Veronica; Nocco, Valentina; Budd, Aidan

    2010-08-01

    There is a clear need to develop novel tools to help improve our understanding of stem cell biology, and potentially also the utility of stem cells in regenerative medicine. We report the cloning, functional, and bioinformatic characterization of a novel stem cell marker in the zebrafish retina, drCol 15a1b. The expression pattern of drCol 15a1b is restricted to stem cell niches located in the central nervous system, whereas other collagen XVs are associated with muscle and endothelial tissues. Knocking down drCol 15a1b expression causes smaller eyes, ear defects, and brain edema. Microscopic analysis reveals enhanced proliferation in the morphant eye, with many mitotic nuclei located in the central retina, together with a delayed differentiation of the mature retinal cell types. Besides, several markers known to be expressed in the ciliary marginal zone display broader expression areas in morpholino-injected embryos, suggesting an anomalous diffusion of signaling effectors from the sonic hedgehog and notch pathways. These results indicate that drCol 15a1b is a novel stem cell marker in the central nervous system that has a key role in homing stem cells into specialized niches in the adult organism. Moreover, mutations in the hCol 18a1 gene are responsible for the Knobloch syndrome, which affects brain and retinal structures, suggesting that drCol 15a1b may function similarly to mammalian Col 18a1. Thus, our results shed new light on the signaling pathways that underlie the maintenance of stem cells in the adult organism while helping us to understand the role of extracellular matrix proteins in modulating the signals that determine stem cell differentiation, cell cycle exit and apoptosis.

  19. A novel COL4A1 frameshift mutation in familial kidney disease: the importance of the C-terminal NC1 domain of type IV collagen

    Science.gov (United States)

    Gale, Daniel P.; Oygar, D. Deren; Lin, Fujun; Oygar, P. Derin; Khan, Nadia; Connor, Thomas M.F.; Lapsley, Marta; Maxwell, Patrick H.; Neild, Guy H.

    2016-01-01

    Background Hereditary microscopic haematuria often segregates with mutations of COL4A3, COL4A4 or COL4A5 but in half of families a gene is not identified. We investigated a Cypriot family with autosomal dominant microscopic haematuria with renal failure and kidney cysts. Methods We used genome-wide linkage analysis, whole exome sequencing and cosegregation analyses. Results We identified a novel frameshift mutation, c.4611_4612insG:p.T1537fs, in exon 49 of COL4A1. This mutation predicts truncation of the protein with disruption of the C-terminal part of the NC1 domain. We confirmed its presence in 20 family members, 17 with confirmed haematuria, 5 of whom also had stage 4 or 5 chronic kidney disease. Eleven family members exhibited kidney cysts (55% of those with the mutation), but muscle cramps or cerebral aneurysms were not observed and serum creatine kinase was normal in all individuals tested. Conclusions Missense mutations of COL4A1 that encode the CB3 [IV] segment of the triple helical domain (exons 24 and 25) are associated with HANAC syndrome (hereditary angiopathy, nephropathy, aneurysms and cramps). Missense mutations of COL4A1 that disrupt the NC1 domain are associated with antenatal cerebral haemorrhage and porencephaly, but not kidney disease. Our findings extend the spectrum of COL4A1 mutations linked with renal disease and demonstrate that the highly conserved C-terminal part of the NC1 domain of the α1 chain of type IV collagen is important in the integrity of glomerular basement membrane in humans. PMID:27190376

  20. Col2CreERT2, A MOUSE MODEL FOR A CHONDROCYTE-SPECIFIC AND INDUCIBLE GENE DELETION

    OpenAIRE

    2014-01-01

    In 2007 and 2008, we published two articles reporting a tamoxifen (TM)-inducible, chondrocyte-specific gene-targeting mouse model in which the expression of CreERT2 is driven by the type II collagen promoter (Col2CreERT2). The fusion protein is specifically expressed and translocated into the nucleus upon TM administration, which in turn triggers gene recombination. Since then, this animal model has become a powerful tool to study the molecular mechanism of skeletal development and degenerati...

  1. Virtual Visit - Colégio de Aplicação, UFPe, Brazil / 28 April 2015

    CERN Multimedia

    ATLAS Visitor Centre

    2015-01-01

    O Colégio de Aplicação da Universidade Federal de Pernambuco fará, neste dia 28 de Abril, uma visita virtual ao experimento ATLAS no CERN, Suíça. A visita será organizada no Brasil pelos professores Kátia Aparecida da Silva Aquino e Ricardo Lima e, na Suíça, pelo professor Denis Oliveira Damazio (BNL) e apresentará o CERN aos alunos do ensino médio.

  2. Tamponamento das lesões hepáticas transfixantes com colágeno tipo I

    Directory of Open Access Journals (Sweden)

    Mantovani Mario

    1998-01-01

    Full Text Available Nos últimos seis anos temos utilizado o balão de SANGESTAKEN-BLACKMORE para o tamponamento de lesões transfixantes hepáticas. Para substituir este corpo estranho, consideramos o uso de colágeno tipo I produzido na UNICAMP, o qual pode ser injetado e moldado ocupando toda a área lesada e o trajeto anfractuoso ou irregular. Desta forma, pode-se conseguir um tamponamento completo, coibindo a hemorragia e sustando a perda de bile. O colágeno será posteriormente reabsorvido não funcionando como corpo estranho. Vinte cães foram submetidos a lesão transfixante na região central do fígado, procurando simular uma lesão produzida por um projétil de arma de fogo. Quatro destes animais, não receberam tratamento e foram a óbito por choque hemorrágico. Em todos os outros 16 animais, aplicou-se o colágeno tipo I em toda a extensão do túnel formado pela lesão, através de injeção do material. Foram realizadas avaliações clínicas no pós-operatório, sendo os cães sacrificados, em grupo de quatro, aos quatro, sete, 15 e 30 dias de pós-operatório. O estudo macroscópico e o microscópico, tanto à microscopia óptica quanto à de polarização, revelou uma formação cicatricial homogênea, com regeneração hepática intensa, precoce e organizada, a partir do 7º dia de pós-operatório. Conclui-se que a aplicação do colágeno tipo I, nestes tipos de ferimentos, são de aplicação simples e segura.

  3. Estudo da vasculopatia pulmonar no modelo experimental de esclerodermia induzido pelo colágeno do tipo V

    OpenAIRE

    Roberta Gonçalves Marangoni

    2011-01-01

    A esclerodermia sistêmica (ES) é caracterizada por fibrose da pele e órgãos internos, ativação imunológica e vasculopatia. Os modelos animais de ES sofrem com a falta de uma prova definitiva para o envolvimento vascular observado na doença humana. Um novo modelo induzido por colágeno do tipo V (COLV) reproduz muitas características da ES como fibrose e fenômenos imunológicos. No entanto, o estudo da vasculopatia ainda não foi abordado. O objetivo desse estudo foi investigar as alterações estr...

  4. Bilateral vitreous hemorrhage in a newborn with Stickler syndrome associated with a novel COL2A1 mutation.

    Science.gov (United States)

    Gerth-Kahlert, Christina; Grisanti, Salvatore; Berger, Eike; Höhn, Rene; Witt, Gabriele; Jung, Ursula

    2011-06-01

    Bilateral preretinal and vitreous hemorrhages in infants are rare and can present a diagnostic challenge, with nonaccidental trauma included in the differential diagnosis. We present the case of a 4-week-old boy in which a Pierre Robin sequence and a positive family history led to the clinical diagnosis of Stickler syndrome, which was confirmed by the identification of a disease-causing novel deletion of 2 nucleotides in the COL2A1 gene. This early association with Stickler syndrome has not been described previously.

  5. Control del colapso del colágeno: desproteinización Control of the collagen network collapse: collagen remoral

    OpenAIRE

    E Osario Ruiz

    2004-01-01

    La penetración de la resina y su reacción con los componentes de los tejidos dentales desmineralizados es el mecanismo micromecánico con el cual los materiales restauradores de resina se unen al diente. Los monómeros penetran en la dentina acondicionada y se concentran en la región superficial contribuyendo a la unión. El refuerzo de esta zona con resina se conoce como hibridación, e implica la impregnación de la red de colágeno y el encapsulamiento de los cristales de hidroxiapatita. Han sur...

  6. The role of genes AMPD1, CNB and COL1A1 in the propensity to employment rowing.

    Directory of Open Access Journals (Sweden)

    Kozyrev A.V.

    2011-04-01

    Full Text Available The question of the frequency distribution of polymorphic alleles of genes AMPD1, CNB and COL1A1. In the experiment, was attended by athletes, rowers qualifications at the age of 21 to 28 years, and people without experience of regular sport at the age of 20 to 22 years. Established that certain combinations of alleles can be recommended as a diagnostic complex genetic markers to assess the propensity to develop and display of strength, endurance and speed. It is shown that upon receipt of positive results may conduct a successful selection in rowing, the implementation of the individualization of the training process and improve its efficiency.

  7. Torres Colón Madrid – España

    Directory of Open Access Journals (Sweden)

    Lamela, A.

    1977-09-01

    Full Text Available The Columbus Towers have introduced a new structural system in Spain which, up to now, has only been applied in 17 cases throughout the world; we refer to the suspended structure. Due to its location, at the intersection of our important Madrid streets, and to its unusual building process, the building has attracted the attention of technicians and public alike. The much discussed difference in the cost between this procedure and conventional methods, estimated to be about 20%, is widely justified and compensated in this case, to such an extent that it can be considered as the only possible functional solution in view of the site's reduced size and irregular characteristics in addition to the great height at which the Towers were planned and the lack of space available on the ground floors. The hanging structure, supported exclusively by means of a central concrete nucleus, permitted installation of the ramps and parking space in the basement, which would have been practically impossible to carry out using traditional construction methods and it freed the ground floors from structural conditioners in the interior distribution, providing the necessary clear space to carry out a flexible and varied distribution plan, as required by the characteristics of the offices, for which the building was designed.Torres Colón han introducido en España un nuevo sistema estructural, sólo aplicado hasta el momento en 17 casos en todo el mundo: el de la estructura colgada. Por su situación, en la confluencia de cuatro importantes vías madrileñas, y por las peculiaridades de su proceso constructivo, el edificio ha atraído la atención de los técnicos y del público no especializado. La muy discutida diferencia de costes entre este procedimiento y el tradicional, estimada aproximadamente en un 10-15%, queda ampliamente justificada y compensada en este caso, hasta tal punto, que puede ser considerada como la única solución funcional posible, dada la

  8. Avaliação do custo de colírios lubrificantes a base exclusivamente de carboximetilcelulose no mercado brasileiro

    Directory of Open Access Journals (Sweden)

    Paulo Estacia

    2013-10-01

    Full Text Available OBJETIVO: Avaliar o custo do uso dos colírios lubrificantes mais utilizados no mercado nacional que apresentam na formulação o mesmo princípio ativo - carboximetilcelulose, considerando o número total de gotas presente em cada frasco dos colírios. MÉTODOS: Foi realizado um estudo experimental utilizando três frascos de cada um dos colírios Lacrifilm® (colírio 1 e Fresh Tears® (colírio 2. Para análise do custo dos colírios contou-se o número de gotas de cada frasco correlacionando os preços dos mesmos. O preço considerado para cada medicação foi o mínimo ao consumidor com alíquota de 17% publicado para o mês de janeiro de 2012. A análise estatística foi efetuada em SPSS® 18. A comparação das variáveis quantitativas analisadas foi procedida através do teste não paramétrico Mann-Whitney e correlação linear de Spearman, sendo considerada uma diferença estatisticamente significante um valor de probabilidade inferior a 0,05. RESULTADOS: Verificou-se que há diferença estatisticamente significativa entre as marcas de colírios avaliados com relação ao número total de gotas. O colírio 1 apresentou o maior número de gotas. CONCLUSÃO: O colírio 1, que tem o maior número de gotas por frasco, também é o que tem o preço mais acessível. Portanto, verifica-se que é o produto mais econômico, ou seja, o paciente pagará menos por cada gota.

  9. A novel RNA-splicing mutation in COL1A1 gene causing osteogenesis imperfecta type I in a Chinese family.

    Science.gov (United States)

    Xia, Xin-Yi; Cui, Ying-Xia; Huang, Yu-Feng; Pan, Lian-Jun; Yang, Bin; Wang, Hao-Yang; Li, Xiao-Jun; Shi, Yi-Chao; Lu, Hong-Yong; Zhou, Yu-Chun

    2008-12-01

    Osteogenesis imperfecta (OI), also known as brittle bone disease, is a rare heterogeneous group of inherited disorders characterized by low bone mass and increased bone fragility. The four major clinical criteria for diagnosis of OI are osteoporosis with abnormal fragility of the skeleton, blue sclera, dentinogenesis imperfecta, and premature otosclerosis. The presence of two of these abnormalities confirms the diagnosis. More than 90% patients have autosomal dominant mutations in one of the two genes, COL1A1 and COL1A2, that encode the alpha chains of type I collagen. While the diagnosis of OI is still based on clinical and radiological grounds, there is a growing demand for the molecular characterization of causative mutations. Although there have been several studies on the mutational spectra of COL1A1 and/or COL1A2 in Western populations, very few cases have been reported from Asia. The purpose of this study is to report two patients with OI type I in a Chinese family, who had a novel RNA-splicing mutation in COL1A1 gene and describe the molecular, radiological and clinical findings. The proband, (case II-5), a 32-y-old Chinese male, and his 7-y-old daughter were diagnosed as OI type I according to their clinical and radiological features. Genomic DNA was extracted from their blood samples and all promoters, exons and exon/intron boundaries of COL1A1 and COL1A2 genes were sequenced. Polymerase chain reaction sequence-specific primers (PCR-SSP) was used to confirm patients' heterozygous state. Direct DNA sequencing analysis of COL1A1 gene revealed a splicing mutation (c.1875+1G>A, also as IVS 27+1G>A) that converted the 5' end of intron 27 from GT to AT. This mutation was found in both 2 affected individuals but 9 unaffected relatives and the 50 controls were not observed, which was consistent with the clinical diagnosis. This mutation (c.1875+1G>A) appeared to be novel, which is neither reported in literature nor registered in the Database of Collagen Mutations

  10. Colémbolos asociados con cultivos de pastos en tres zonas de vida

    Directory of Open Access Journals (Sweden)

    Ospina S. Claudia Marcela

    2003-12-01

    Full Text Available

    Los colémbolos son artrópodos muy pequeños,

    sin alas, similares a los insectos y extremadamente

    abundantes en gran cantidad de hábitat, siendo

    uno de los grupos de hexápodos mejor representados

    en el mundo. Son muy importantes por su influencia

    sobre la estructura de algunos suelos, no pocos viven en

    el dosel de las selvas tropicales y algunos actúan como

    dispersores de esporas dentro de los troncos en descomposición.

    En Colombia existen muy pocos estudios de

    reconocimiento de colémbolos. En la literatura se registran

    12 especies en dos localidades cerca de Buenaventura,

    agrupadas en 5 familias; así mismo, han sido

    reconocidas en diferentes estudios otras 7 especies que

    actúan como plagas en Musáceas y en flores cultivadas.

    Con el fin de contribuir al conocimiento de las familias

    de Collembola asociadas con suelos de pastos cultivados

    en el departamento de Antioquia se hicieron muestreos

    en tres zonas de vida de Holdridge (bh-P, bh-MB

    y bs-T en pastos Guinea (

     

    Panicum maximum, Ángleton

  11. A 3' UTR SNP in COL18A1 is associated with susceptibility to HBV related hepatocellular carcinoma in Chinese: three independent case-control studies.

    Directory of Open Access Journals (Sweden)

    Xiaopan Wu

    Full Text Available BACKGROUND: Accumulated evidences indicate that single nucleotide polymorphisms (SNP in angiogenesis and tumorigenesis related genes are associated with risk of Hepatocellular carcinoma (HCC. COL18A1 encodes the precursor of endostatin, which is a broad-spectrum angiogenesis inhibitor, and we speculate that SNPs in COL18A1 may be associated with susceptibility to HCC. METHODS AND FINDINGS: We carried out a 2-stage association study in 3 independent case-control groups in a total of 1067 chronic hepatitis B (CHB patients and 808 hepatitis B virus (HBV related HCC patients in Han Chinese. Four SNPs which can represent all potential functional SNPs with MAF>0.1 recorded in HapMap database were genotyped using TaqMan methods. Levels of total COL18A1 mRNA were also examined using quantitative real-time RT-PCR. We found that rs7499 located in 3'-UTR to be strongly associated with HBV related HCC (P(combined = 0.0000005, OR = 0.72, 95%CI = 0.63-0.82. COL18A1 mRNA expression was significantly decreased as the disease progressed (P = 0.000026. CONCLUSION: These findings indicate that COL18A1 rs7499 may contribute to the risk of HCC in Han Chinese.

  12. Construction and validation of an RNA trans-splicing molecule suitable to repair a large number of COL7A1 mutations.

    Science.gov (United States)

    Tockner, B; Kocher, T; Hainzl, S; Reichelt, J; Bauer, J W; Koller, U; Murauer, E M

    2016-11-01

    RNA trans-splicing has become a versatile tool in the gene therapy of monogenetic diseases. This technique is especially valuable for the correction of mutations in large genes such as COL7A1, which underlie the dystrophic subtype of the skin blistering disease epidermolysis bullosa. Over 800 mutations spanning the entire length of the COL7A1 gene have been associated with defects in type VII collagen, leading to excessive fragility of epithelial tissues, the hallmark of dystrophic epidermolysis bullosa (DEB). In the present study, we designed an RNA trans-splicing molecule (RTM) that is capable of repairing any given mutation within a 4200 nucleotide region spanning the 3' half of COL7A1. The selected RTM, RTM28, was able to induce accurate trans-splicing into endogenous COL7A1 pre-mRNA transcripts in a type VII collagen-deficient DEB patient-derived cell line. Correct trans-splicing was detected at the RNA level by semiquantitative RT-PCR and correction of full-length type VII collagen was confirmed at the protein level by immunofluorescence and western blot analyses. Our results demonstrate that RTM28, which covers >60% of all mutations reported in DEB and is thus the longest RTM described so far for the repair of COL7A1, represents a promising candidate for therapeutic applications.

  13. Inhibition of transforming growth factor-beta-induced liver fibrosis by a retinoic acid derivative via the suppression of Col 1A2 promoter activity.

    Science.gov (United States)

    Yang, Kun-Lin; Chang, Wen-Teng; Hung, Kuo-Chen; Li, Eric I C; Chuang, Chia-Chang

    2008-08-22

    Transforming growth factor-beta1 (TGF-beta1) mediates expression of collagen 1A2 (Col 1A2) gene via a synergistic cooperation between Smad2/Smad3 and Sp1, both act on the Col 1A2 gene promoter. In our previous study, we reported that a retinoic acid derivative obtained from Phellinus linteus (designated PL) antagonizes TGF-beta-induced liver fibrosis through regulation of ROS and calcium influx. In this continuing study we seek further the effect of PL on the Smad signaling pathway. We used a Col 1A2 promoter-luciferase construct to study the action of PL on Smad through TGF-beta. We found that PL decreases the promoter activity of Col 1A2, hinders the translocalization of phosphorylated Smad2/3-Smad 4 complex from cytosol into nucleus and inhibits Sp1 binding activity. These results suggest that PL inhibits TGF-beta1-induced Col 1A2 promoter activity through blocking ROS and calcium influx as well as impeding Sp1 binding and translocalization of pSmad 2/3-Smad4 complex into nucleus.

  14. The role of FIS in the Rcd checkpoint and stable maintenance of plasmid ColE1.

    Science.gov (United States)

    Blaby, I K; Summers, D K

    2009-08-01

    Escherichia coli plasmid ColE1 lacks active partitioning, and copies are distributed randomly to daughter cells at division. The plasmid is maintained stably in the bacterial population as long as its copy number remains high. The accumulation of plasmid dimers and higher multimers depresses copy number, and is an important cause of multicopy plasmid instability. ColE1 dimers are restored to the monomeric state by site-specific recombination, which requires the host-encoded proteins XerCD, ArgR and PepA acting at the plasmid cer site. In addition, a 70 nt RNA expressed from the cer site of plasmid dimers delays the division of dimer-containing cells. Here, we report that the global regulator FIS binds to cer in a sequence-specific manner, close to the Rcd promoter (P(cer)). FIS is not required for plasmid dimer resolution, but is essential for repression of P(cer) in plasmid monomers. Repression also requires the XerCD recombinase, but not ArgR or PepA. We propose a model for monomer-dimer control of P(cer) in which the promoter is repressed in plasmid monomers by the concerted action of FIS and XerCD. Rcd transcription is triggered in plasmid dimers by the lifting of XerCD-mediated repression in the synaptic complex.

  15. Osteogenesis imperfecta type I: Molecular heterogeneity for COL1A1 null alleles of type I collagen

    Energy Technology Data Exchange (ETDEWEB)

    Willing, M.C.; Deschenes, S.P.; Pitts, S.H.; Arikat, H.; Roberts, E.J.; Scott, D.A.; Slayton, R.L. [Univ. of Iowa, Iowa City, IA (United States); Byers, P.H. [Univ. of Washington, Seattle, WA (United States)

    1994-10-01

    Osteogenesis imperfecta (OI) type I is the mildest form of inherited brittle-bone disease. Dermal fibroblasts from most affected individuals produce about half the usual amount of type I procollagen, as a result of a COL1A1 {open_quotes}null{close_quotes} allele. Using PCR amplification of genomic DNA from affected individuals, followed by denaturing gradient gel electrophoresis (DGGE) and SSCP, we identified seven different COL1A1 gene mutations in eight unrelated families with OI type I. Three families have single nucleotide substitutions that alter 5{prime} donor splice sites; two of these unrelated families have the same mutation. One family has a point mutation, in an exon, that creates a premature termination codon, and four have small deletions or insertions, within exons, that create translational frameshifts and new termination codons downstream of the mutation sites. Each mutation leads to both marked reduction in steady-state levels of mRNA from the mutant allele and a quantitative decrease in type I procollagen production. Our data demonstrate that different molecular mechanisms that have the same effect on type I collagen production result in the same clinical phenotype. 58 refs., 4 figs., 1 tab.

  16. Metabolic footprint analysis uncovers strain specific overflow metabolism and D-isoleucine production of Staphylococcus aureus COL and HG001.

    Science.gov (United States)

    Dörries, Kirsten; Lalk, Michael

    2013-01-01

    During infection processes, Staphylococcus aureus is able to survive within the host and to invade tissues and cells. For studying the interaction between the pathogenic bacterium and the host cell, the bacterial growth behaviour and its metabolic adaptation to the host cell environment provides first basic information. In the present study, we therefore cultivated S. aureus COL and HG001 in the eukaryotic cell culture medium RPMI 1640 and analyzed the extracellular metabolic uptake and secretion patterns of both commonly used laboratory strains. Extracellular accumulation of D-isoleucine was detected starting during exponential growth of COL and HG001 in RPMI medium. This non-canonical D-amino acid is known to play a regulatory role in adaptation processes. Moreover, individual uptake of glucose, accumulation of acetate, further overflow metabolites, and intermediates of the branched-chain amino acid metabolism constitute unique metabolic footprints. Altogether these time-resolved footprint analyses give first metabolic insights into staphylococcal growth behaviour in a culture medium used for infection related studies.

  17. Mutations in the COL5A1 gene are causal in the Ehlers-Danlos syndromes I and II

    Energy Technology Data Exchange (ETDEWEB)

    De Paepe, A.; Nuytinck, L.; Naeyaert, J.M. [Universitaets-Hautklinik Heidelberg (Germany)] [and others

    1997-03-01

    The Ehlers-Danlos syndrome (EDS) is a heterogeneous connective-tissue disorder of which at least nine subtypes are recognized. Considerable clinical overlap exists between the EDS I and II subtypes, suggesting that both are allelic disorders. Recent evidence based on linkage and transgenic mice studies suggest that collagen V is causally involved in human EDS. Collagen V forms heterotypic fibrils with collagen I in many tissues and plays an important role in collagen I fibrillogenesis. We have identified a mutation in COL5A1, the gene encoding the pro{alpha}1(V) collagen chain, segregating with EDS I in a four-generation family. The mutation causes the substitution of the most 5{prime} cysteine residue by a serine within a highly conserved sequence of the pro{alpha}1(V) C-propeptide domain and causes reduction of collagen V by preventing incorporation of the mutant pro{alpha}1 (V) chains in the collagen V trimers. In addition, we have detected splicing defects in the COL5A1 gene in a patient with EDS I and in a family with EDS II. These findings confirm the causal role of collagen V in at least a subgroup of EDS I, prove that EDS I and II are allelic conditions, and represent a, so far, unique example of a human collagen disorder caused by substitution of a highly conserved cysteine residue in the C-propeptide domain of a fibrillar collagen. 30 refs., 6 figs., 2 tabs.

  18. Collagenase 1A2 (COL1A2) gene A/C polymorphism in relation to severity of dental fluorosis.

    Science.gov (United States)

    Escobar-García, Diana; Mejía-Saavedra, Jesús; Jarquín-Yáñez, Lizet; Molina-Frechero, Nelly; Pozos-Guillén, Amaury

    2016-04-01

    The aim of this study was to evaluate the putative association between the presence of the COL1A2 gene A/C polymorphism and the severity of dental fluorosis in a sample exposed to high concentrations of fluoride. A cross-sectional study was carried out that included 80 children residing in a community with high concentrations of fluoride in the drinking water. To determine whether the presence of this polymorphism and dental fluorosis are associated, the presence of the dental fluorosis was considered to be a response variable, while fluoride concentration in water and urine was designated as independent variables. In addition, the children's parents completed questionnaires with general information about drinking and cooking with tap water, consumption of milk and soft drinks, and other putative risk factors. Individuals with the polymorphism had nonsignificant odds (OR = 2.24; 95% CI = 0.55-9.02) of having dental fluorosis at higher exposures to fluoride. This finding was similar in individuals without the polymorphism (OR = 1.65; 95% CI = 0.44-6.17). The presence of polymorphism in the COL1A2 gene was not associated with the severity of dental fluorosis. © 2015 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  19. Toxicidade córneo-conjuntival do colírio de iodo-povidona: estudo experimental

    Directory of Open Access Journals (Sweden)

    Santos Namir Clementino

    2003-01-01

    Full Text Available OBJETIVO: Avaliar a toxicidade ocular do colírio de iodo-povidona a 2,5% e a 0,5% sobre a superfície ocular, na regeneração do epitélio corneal e as alterações histopatológicas da córnea. MÉTODOS: Realizaram-se estudos experimentais consecutivos em coelhos albinos, nos quais se fez a ablação do epitélio de uma área circular central da córnea de 6,5 mm de diâmetro. Em cada experimento foram utilizados 20 animais (40 olhos, sendo que no olho direito foi instilado o colírio de iodo-povidona (caso e no olho esquerdo água destilada (controle, em intervalos de uma hora, durante três dias consecutivos. Durante o experimento, os animais foram submetidos a exames biomicroscópicos diários para avaliação da superfície córneo-conjuntival e realização de fotografias seriadas da área sem epitélio, corada com fluoresceína, para medida da área projetada da lesão com auxílio de analisador de imagem computadorizado. No final do experimento, os animais foram sacrificados para avaliação histopatológica das córneas. RESULTADOS: O colírio de iodo-povidona a 2,5% comprometeu a regeneração epitelial, causou conjuntivite em 100% dos olhos, com produção de secreção de aspecto mucoso em 80%, ceratite ponteada em 40% e edema estrômico leve em 10% dos casos. Os achados histopatológicos foram úlcera de córnea, degeneração hidrópica das células endoteliais e infiltrado inflamatório com predomínio de eosinófilos em 100% dos casos. Nos olhos em que se instilou iodo-povidona a 0,5%, assim como nos controles, observou-se completa regeneração da lesão epitelial (p<0,001 após 72 horas do início do experimento. Do ponto de vista histopatológico, epitelização normal em todos os casos e controles, em apenas um caso observou-se discreto infiltrado de leucócitos perilímbicos. CONCLUSÃO: A toxicidade ocular do colírio de iodo-povidona é dependente da concentração da solução, sendo que o colírio a 2,5% mostrou

  20. Thatcher Bay, Washington, Nearshore Restoration Assessment

    Science.gov (United States)

    Breems, Joel; Wyllie-Echeverria, Sandy; Grossman, Eric E.; Elliott, Joel

    2009-01-01

    The San Juan Archipelago, located at the confluence of the Puget Sound, the Straits of Juan de Fuca in Washington State, and the Straits of Georgia, British Columbia, Canada, provides essential nearshore habitat for diverse salmonid, forage fish, and bird populations. With 408 miles of coastline, the San Juan Islands provide a significant portion of the available nearshore habitat for the greater Puget Sound and are an essential part of the regional efforts to restore Puget Sound (Puget Sound Shared Strategy 2005). The nearshore areas of the San Juan Islands provide a critical link between the terrestrial and marine environments. For this reason the focus on restoration and conservation of nearshore habitat in the San Juan Islands is of paramount importance. Wood-waste was a common by-product of historical lumber-milling operations. To date, relatively little attention has been given to the impact of historical lumber-milling operations in the San Juan Archipelago. Thatcher Bay, on Blakely Island, located near the east edge of the archipelago, is presented here as a case study on the restoration potential for a wood-waste contaminated nearshore area. Case study components include (1) a brief discussion of the history of milling operations. (2) an estimate of the location and amount of the current distribution of wood-waste at the site, (3) a preliminary examination of the impacts of wood-waste on benthic flora and fauna at the site, and (4) the presentation of several restoration alternatives for the site. The history of milling activity in Thatcher Bay began in 1879 with the construction of a mill in the southeastern part of the bay. Milling activity continued for more than 60 years, until the mill closed in 1942. Currently, the primary evidence of the historical milling operations is the presence of approximately 5,000 yd3 of wood-waste contaminated sediments. The distribution and thickness of residual wood-waste at the site was determined by using sediment

  1. Prehistoric Earthquakes in the Puget Lowland, Washington

    Science.gov (United States)

    Sherrod, B. L.

    2005-12-01

    . Coastal marsh stratigraphy, lidar mapping, and fault scarp excavations help define recent activity along the Southern Whidbey Island fault zone (SWIFZ). Abrupt uplift of more than one meter at a coastal marsh on south-central Whidbey Island suggests that a MW 6.5 - 7.0 earthquake on the SWIFZ shook the region between 3200 and 2800 years B.P. Subtle scarps on Pleistocene surfaces are visible on high-resolution lidar topography at a number of locations in the mainland region, often closely associated with aeromagnetic lineaments. In the field, scarps exhibit northeast-side-up vertical relief of 1 to 5 m. Four excavations across two lidar scarps show that the SWIFZ produced at least four events since deglaciation about 16,400 years ago, the most recent after 2700 years ago. The evidence for Holocene deformation across the entire Puget Sound lowlands is now very pervasive, but still incomplete. Lidar scarps have been identified in several areas not associated with the seven zones noted here, but have yet to be investigated. Lidar data covers about 70 percent of the Puget Sound basin, but key areas with suspected crustal faults in northwestern Washington have yet to be flown. Still, the combination of paleoseismological field investigations and lidar imaging allowed remarkable progress in understanding the Holocene earthquake history of greater Puget Sound in just seven years. The new observations will be an important addition to observations used to calculate the National Hazard Maps.

  2. Geology of Mount Rainier National Park, Washington

    Science.gov (United States)

    Fiske, Richard S.; Hopson, Clifford Andrae; Waters, Aaron Clement

    1963-01-01

    Mount Rainier National Park includes 378 square miles of rugged terrain on the west slope of the Cascade Mountains in central Washington. Its mast imposing topographic and geologic feature is glacier-clad Mount Rainier. This volcano, composed chiefly of flows of pyroxene andesite, was built upon alt earlier mountainous surface, carved from altered volcanic and sedimentary rocks invaded by plutonic and hypabyssal igneous rocks of great complexity. The oldest rocks in the park area are those that make up the Olmnapecosh Formation of late Eocene age. This formation is more than 10,000 feet thick, and consists almost entirely of volcanic debris. It includes some lensoid accumulations of lava and coarse mudflows, heaped around volcanic centers., but these are surrounded by vastly greater volumes of volcanic clastic rocks, in which beds of unstratified coarse tuff-breccia, about 30 feet in average thickness, alternate with thin-bedded breccias, sandstones, and siltstones composed entirely of volcanic debris. The coarser tuff-breccias were probably deposited from subaqueous volcanic mudflows generated when eruption clouds were discharged directly into water, or when subaerial ash flows and mudflows entered bodies of water. The less mobile mudflows and viscous lavas built islands surrounded by this sea of thinner bedded water-laid clastics. In compostion the lava flows and coarse lava fragments of the Ohanapecosh Formation are mostly andesite, but they include less abundant dacite, basalt, and rhyolite. The Ohanapecosh Formation was folded, regionally altered to minerals characteristic of the zeolite facies of metamorphism, uplifted, and deeply eroded before the overlying Stevens Ridge Formation of Oligocene or early Miocene age was deposited upon it. The Stevens Ridge rocks, which are about 3,000 feet in maximum total thickness, consist mainly of massive ash flows. These are now devitrified and altered, but they originally consisted of rhyodacite pumice lapilli and glass

  3. Volcanic hazards at Mount Rainier, Washington

    Science.gov (United States)

    Crandell, Dwight Raymond; Mullineaux, Donal Ray

    1967-01-01

    Mount Rainier is a large stratovolcano of andesitic rock in the Cascade Range of western Washington. Although the volcano as it now stands was almost completely formed before the last major glaciation, geologic formations record a variety of events that have occurred at the volcano in postglacial time. Repetition of some of these events today without warning would result in property damage and loss of life on a catastrophic scale. It is appropriate, therefore, to examine the extent, frequency, and apparent origin of these phenomena and to attempt to predict the effects on man of similar events in the future. The present report was prompted by a contrast that we noted during a study of surficial geologic deposits in Mount Rainier National Park, between the present tranquil landscape adjacent to the volcano and the violent events that shaped parts of that same landscape in the recent past. Natural catastrophes that have geologic causes - such as eruptions, landslides, earthquakes, and floods - all too often are disastrous primarily because man has not understood and made allowance for the geologic environment he occupies. Assessment of the potential hazards of a volcanic environment is especially difficult, for prediction of the time and kind of volcanic activity is still an imperfect art, even at active volcanoes whose behavior has been closely observed for many years. Qualified predictions, however, can be used to plan ways in which hazards to life and property can be minimized. The prediction of eruptions is handicapped because volcanism results from conditions far beneath the surface of the earth, where the causative factors cannot be seen and, for the most part, cannot be measured. Consequently, long-range predictions at Mount Rainier can be based only on the past behavior of the volcano, as revealed by study of the deposits that resulted from previous eruptions. Predictions of this sort, of course, cannot be specific as to time and locale of future events, and

  4. Variables físicas, químicas y biológicas del suelo sobre las poblaciones de colémbolos en Costa Rica

    OpenAIRE

    Guillén, Cesar; Soto Adames, Felipe; Springer, Monika

    2005-01-01

    Se ha discutido que las variables físicas, químicas y biológicas del suelo influyen sobre las poblaciones de colémbolos; sin embargo, la información acerca de la interacción de estas variables, en conjunto, con relación a la diversidad y abundancia de colémbolos, es escasa. En el presente estudio se determinó la relación entre estas variables y la diversidad y abundancia de colémbolos en los suelos de un bosque primario, un bosque secundario y un cafetal en el Parque Nacional Tapantí. El bosq...

  5. Osteogenesis imperfecta Type IV: a newly identified variant at position c.560 (G > T; p.Gly187Val) in the COL1A2 gene.

    Science.gov (United States)

    Usta, Akin; Karademir, Dilay; Sen, Eylem; Yazici, Selcuk; Adali, Ertan; Erdem, Erkan; Karacan, Meric

    2017-01-01

    Osteogenesis imperfecta is a clinically heterogenous disease caused by defective collagen syntesis associated with a mutation in the COL1A1 or COL1A2 genes. In this report, we present a case of osteogenesis imperfecta (OI) type IV, seen in a female fetus with incurved femurs at 18 weeks of gestation. Molecular analysis of the newborn revealed a novel mutation at position c.560 (c.560 G > T) of the exon 12 in the COL1A2 gene; which lead to the glycine modification with valine (p.Gly187Val) at codon 187. The pregnancy follow-up was uneventful. After delivery, the newborn underwent biphosponat therapy and no fracture was detected until 1 year old.

  6. Distribución espacial de fibroblastos endoneurales en cultivos tridimensionales en geles de colágeno Tipo I

    Directory of Open Access Journals (Sweden)

    Leal Mejía Leslie Yaneth

    2002-11-01

    Full Text Available SaludRESUMENEn la actualidad los cultivos celulares tridimensionales son muy utilizados, ya que imitan lascondiciones in vivode las células. Uno de los cultivos más desarrollados es el de fibroblastosdérmicos dentro de geles de colágeno en forma de lenteja, los cuales se contraen de un 70%a un 80% durante las primeras 24 horas de cultivo. El objetivo inicial de este trabajo fue aislarfibroblastos endoneurales (FE del nervio ciático de ratones ICR, mantenerlos en cultivo enmonocapa y luego en cultivo tridimensional en geles cilíndricos de colágeno tipo I de 1,6 mmde diámetro y 3 mm de largo, formados en las prótesis de silicona empleadas para regeneraciónde nervios periféricos; imitando las condiciones del nervio in vivopara que pueda ser emplea-dos en regeneración. Inicialmente se retira epineuro y perineuro del nervio, dejando sólo elendoneuro que se disocia con colagenasa (500U/ml y luego se le hace una disociación me-cánica. Las células libres, se cultivan en monocapa con DMEM suplementado con 20% suerobovino fetal, logrando un 95% de pureza en cultivo primario; en los subcultivos se purifican yamplifican los FE. Estos se aislan y se mezclan con una solución de colágeno tipo I a 0,5mg/mlpara la formación de los geles, teniendo en cuenta que cada gel contenga 50.000 fibroblastos,se introduce la mezcla dentro de las prótesis de silicona y se dejan gelificar, siguiendo el mismoprocedimiento se formaron geles sin células; una vez formados los geles se liberan de las cáma-ras y se cultivan en suspensión 1, 3, 5, 7, 15 y 30 días. Al cumplirse cada uno de los tiemposde cultivo, se analizó la apariencia del colágeno y la distribución de los FE en microscopíaóptica y de fluorescencia. Los cultivos primarios de FE se obtuvieron a los 5 días, lograndoacortar el tiempo de confluencia entre 15 y 20 días con respecto a lo reportado en la literatura;un dato novedoso fue la purificación total de los FE en el primer subcultivo

  7. Chief Joseph Dam, Columbia River, Washington, Community Impact Reports,

    Science.gov (United States)

    1980-05-01

    eIlip t. o ’ W iI wil p I rob~ib IV b icc ai b’/ i,_ h r fam1i Ii es . P rO jc L1 ohl o! totl I p)OPUIoIt ion ink ’ I Mii’ , Oils5 Ii J ri i [11 01...IPRT LM:E L"G’Li "-;CU COUNTY ~ ~ i -T SOPLKC C U N,’._PH.4TA COL’""- COUN0 P~ij1~ RTYIAI<{ *H.*.\\(- U( rN 1LI Ti H ... -.... _ tlc ~t,JA’Y’ A:::) Re

  8. Uso da terra e perda de solo na Bacia Hidrográfica do Rio Colônia, Bahia Land use and soil loss in the Colônia River Watershed, Bahia

    Directory of Open Access Journals (Sweden)

    Vinícius de A. Silva

    2011-03-01

    Full Text Available Mudanças no uso da terra muitas vezes potencializam a erosão hídrica acarretando perda de água, solo, nutriente e matéria orgânica dos sistemas agrícolas, razão por que se estimou a perda de solo na bacia hidrográfica do rio Colônia, na Bahia, nos últimos vinte e sete anos, utilizando-se o software SWAT (Soil and Water Assessment Tool. Para tal, procedeu-se à digitalização de mapas temáticos, interpretação de fotografias aéreas de 1975; classificação supervisionada de imagens de satélites de 2002 e produção de mapas de uso da terra. O SWAT foi utilizado na obtenção de mapas temáticos digitais por sub-bacia hidrográfica do rio Colônia, quantificação das perdas de solo em cada sub-bacia e nas formas de usos obtidos por conceito teórico, simulando as inclusões de áreas de preservação permanente, bem como mata em toda a superfície das sub-bacias. Estima-se que, entre 1975 e 2002, a média de perda de solo na bacia hidrográfica do rio Colônia foi de 47 t ha-1 ano-1 e em 2002 a estimativa de perda de solo foi de 46,64 t ha-1 ano-1. Na simulação de um cenário teórico de área de preservação permanente (APP e mata, ocorreu diminuição da média da perda de solo em toda a bacia hidrográfica do rio Colônia de, respectivamente, 9,09 t ha-1 ano-1 e 20,91 t ha-1 ano-1.Land use changes most of the time increases the hydric erosion leading to loss of water, nutrients and organic matter in agricultural systems. Thus, aiming to estimate the soil loss in the watershed of Colonia River, in Bahia, in the last twenty-seven years, the software SWAT (Soil and Water Assessment Tool was used. For the purpose, a digitalization thematic map (Arc View, interpretation of aerial photographs from 1975, supervised classification of 2002 satellite images and a land use map generation were developed. The SWAT software was used for obtaining a digital thematic map for every sub-basin of Colonia River Watershed, soil loss

  9. Membranas de colágeno y quitosano de fuentes alternativas: evaluación para su uso potencial en ingeniería de tejidos

    OpenAIRE

    2015-01-01

    Los polímeros naturales, como el colágeno y el quitosano, presentan características físicas, químicas y biológicas que los hacen buenos candidatos para usarlos como soportes análogos de matriz extracelular, con potenciales aplicaciones en la ingeniería de tejidos. En el presente trabajo se evaluaron membranas biopoliméricas de colágeno y quitosano de material considerado tradicionalmente de desecho en la industria pesquera, para el cultivo de fibroblastos dérmicos. Se emplearon matrices de 10...

  10. Association and linkage analysis of COL1A1 and AHSG gene polymorphisms with femoral neck bone geometric parameters in both Caucasian and Chinese nuclear families

    Institute of Scientific and Technical Information of China (English)

    Hui JIANG; Shu-feng LEI; Su-mei XIAO; Yuan CHEN; Xiao SUN; Fang YANG; Li-ming LI; Shun WU; Hong-wen DENC

    2007-01-01

    Aim: To simultaneously investigate the contribution of the alpha 1 chain of col-lagen type 1 (COL1A1) and alpha2-HS-glycoprotein (AHSG) genes to the varia-tion of bone geometric parameters in both Caucasians and Chinese. Methods: Six hundred and five Caucasian individuals from 157 nuclear families and 1228 Chi-nese subjects from 400 nuclear families were genotyped at the AHSG-Sacl, COL1A1-PCOL2 and Sp1 polymorphisms using polymerase chain reaction (PCR)-restric-tion fragment length polymorphism (RFLP). 5 FN bone geometric parameters were calculated based on bone mineral density and bone area of femoral neck (FN)measured by dual energy X-ray absorptiometry. Population stratification, total family association, within-family association, and linkage tests were performed by the quantitative transmission disequilibrium test program. Results: The t-test showed the significant differences of all bone geometric phenotypes (except ED)between Caucasians and Chinese in the offspring using both unadjusted and adjusted (by age, height, weight, and gender) data. In Caucasians, we found significant within-family association results between the COL1A1-Sp1 polymor-phism (rs1800012) and cross sectional area (CSA), cortical thickness (CT),endocortical diameter (ED), buckling ratio (BR) (P=0.018, 0.002, 0.023, and 0.001,respectively); the COL1A1-Sp1 polymorphism also detected significant linkage with BR (P=0.039). In the population of China, the within-family associations between the COL1A1-PCOL2 polymorphism (rs1107946) and CT, BR were signifi-cant (P=0.012 and 0.008, respectively). Furthermore, evidence of linkage were observed between the AHSG-SacI polymorphism (rs4918) and CT, BR (P--0.042 and 0.014, respectively) in Caucasians, but not in Chinese. Conclusion: Our results suggest that the COL1A1 gene may have significantly association with bone geometry in both Caucasians and Chinese, and the AHSG gene may be linked to bone geometry in Caucasians, but not in Chinese. This study

  11. Endocardite infecciosa por Streptococcus bovis em paciente com carcinoma colônico Endocarditis infecciosa por Streptococcus bovis en paciente con carcinoma colónico Infectious endocarditis due to Streptococcus bovis in a patient with colon carcinoma

    Directory of Open Access Journals (Sweden)

    Alexandre Maulaz Barcelos

    2010-09-01

    Full Text Available Descrevemos o caso de uma paciente de 66 anos de idade, com endocardite infecciosa por Streptococcus bovis e adenocarcinoma colônico, que desenvolveu insuficiência aórtica grave aguda. Foi submetida à cirurgia de troca valvar aórtica e posteriormente à ressecção tumoral (hemicolectomia direita. É importante ressaltar a necessidade de complementação do estudo do cólon, mesmo em indivíduos assintomáticos, quando diagnosticamos endocardite infecciosa por S. bovis.Describimos el caso de una paciente de 66 años de edad, con endocarditis infecciosa por streptococcus bovis y adenocarcinoma colónico, que desarrolló insuficiencia aórtica grave aguda. Fue sometida a cirugía de reemplazo valvular aórtico y posteriormente a resección tumoral (hemicolectomía derecha. Es importante destacar la necesidad de complementación del estudio del colon, aun en individuos asintomáticos, cuando diagnosticamos endocarditis infecciosa por S. bovis.We report the case of a 66 year-old female patient with infectious endocarditis due to Streptococcus bovis and adenocarcinoma of the colon that developed acute aortic insufficiency. She was submitted to aortic valve replacement surgery and later to tumor resection (right hemicolectomy. It is important to emphasize the need for complementing the study of the colon, even in asymptomatic individuals, when infectious endocarditis due to S. bovis is diagnosed.

  12. Patterns of value: An evaluation of phase I of the Washington State holistic management project

    OpenAIRE

    Long, J S

    1999-01-01

    Metadata only record This report portrays values of the Washington State Holistic Management Project (1995-1998), as depicted by project participants and administrators of Washington State University- the host institution. Available in SANREM office, FS

  13. 75 FR 43042 - Irish Potatoes Grown in Washington; Temporary Change to the Handling Regulations and Reporting...

    Science.gov (United States)

    2010-07-23

    ... Washington potatoes enter the fresh market, thereby ensuring consumer satisfaction, increased sales, and... Agricultural Marketing Service 7 CFR Part 946 Irish Potatoes Grown in Washington; Temporary Change to the Handling Regulations and Reporting Requirements AGENCY: Agricultural Marketing Service, USDA. ACTION...

  14. Dignity, death, and dilemmas: a study of Washington hospices and physician-assisted death

    National Research Council Canada - National Science Library

    Campbell, Courtney S; Black, Margaret A

    2014-01-01

    ... in the Washington Death with Dignity Act. This article sets a national and local context for the discussion of hospice involvement in physician-assisted death, summarizes the content of hospice policies in Washington State, and presents...

  15. Promoting K-12 Community Research and Service through the Washington Earth Science Initiative.

    Science.gov (United States)

    Field, John; DeBari, Susan; Gallagher, Michael

    2003-01-01

    Describes a K-12 teacher enhancement program in Washington state that provides teachers with the background knowledge, human and material resources, and time to develop community-based studies on environmental issues facing the citizens of Washington. (Author/KHR)

  16. Hello Mr. President! Rollenspiele zwischen Hollywood und Washington

    NARCIS (Netherlands)

    Mehring, F.

    2016-01-01

    Hello Mr. President Rollenspiele zwischen Hollywood und Washington Am 8. November 2016 entscheidet sich, wer zum 58. Präsidenten der USA gewählt wird: Die ehemalige Außenministerin Hillary Clinton oder der republikanische Kandidat Donald Trump. In der heißen Phase des Wahlkampfs fällt besonders deu

  17. The State of Washington's Children, Fall 2001. [Ninth Annual Report].

    Science.gov (United States)

    Washington Univ., Seattle. School of Public Health and Community Medicine.

    This Kids Count report is the ninth to examine annually statewide trends in the well-being of Washington's children. The statistical portrait is based on indicators of child well-being in five areas: (1) family and community, including teen birth rate, teen pregnancy rate, divorces involving children, and births to unmarried mothers; (2) economic…

  18. The State of Washington's Children. [Seventh Annual Report].

    Science.gov (United States)

    Marvinney, Sandy, Ed.

    This KIDS COUNT seventh annual report examines statewide trends in the well-being of Washington's children. The statistical portrait is based 24 key indicators of well-being: (1) teen birth rate; (2) teen pregnancy rate; (3) births to unmarried mothers; (4) divorces involving children; (5) family foster caseload; (6) average real wages; (7) per…

  19. National Board Certification and Teacher Effectiveness: Evidence from Washington State

    Science.gov (United States)

    Cowan, James; Goldhaber, Dan

    2016-01-01

    We study the effectiveness of teachers certified by the National Board for Professional Teaching Standards (NBPTS) in Washington State, which has one of the largest populations of National Board-Certified Teachers (NBCTs) in the nation. Based on value-added models in math and reading, we find that NBPTS-certified teachers are about 0.01-0.05…

  20. Hello Mr. President! Rollenspiele zwischen Hollywood und Washington

    NARCIS (Netherlands)

    Mehring, F.

    2016-01-01

    Hello Mr. President Rollenspiele zwischen Hollywood und Washington Am 8. November 2016 entscheidet sich, wer zum 58. Präsidenten der USA gewählt wird: Die ehemalige Außenministerin Hillary Clinton oder der republikanische Kandidat Donald Trump. In der heißen Phase des Wahlkampfs fällt besonders deu

  1. Lupine consumption by cattle in the scablands of Eastern Washington.

    Science.gov (United States)

    The Scabland region of eastern Washington is dominated by annual grasses and in some areas by Lupinus leucophyllus (velvet lupine). The purpose of these trials was to document the consumption of velvet lupine and relate the amount of lupine eaten by pregnant cows with the incidence of crooked calv...

  2. Mathematics, Engineering Science Achievement (MESA). Washington's Community and Technical Colleges

    Science.gov (United States)

    Washington State Board for Community and Technical Colleges, 2014

    2014-01-01

    Growing Science, Technology, Education, and Mathematics (STEM) talent Washington MESA--Mathematics Engineering Science Achievement--helps under-represented community college students excel in school and ultimately earn STEM bachelor's degrees. MESA has two key programs: one for K-12 students, and the other for community and technical college…

  3. Limited License Legal Technician. Washington's Community and Technical Colleges

    Science.gov (United States)

    Washington State Board for Community and Technical Colleges, 2014

    2014-01-01

    A landmark state Supreme Court rule that promises to create new jobs and expand public access to legal help is coming to life at Washington's community and technical colleges. Four colleges--Highline, Edmonds, Tacoma, and Spokane--started training students to become "Limited License Legal Technicians" (LLLTs) in 2014. The state Supreme…

  4. The timber resources of the Inland Empire area, Washington.

    Science.gov (United States)

    Hal A. Arbogast

    1974-01-01

    The latest inventory of the timber resources of the Inland Empire area of Washington indicates there are 24 billion board feet of sawtimber on 3.9 million acres of commercial forest land. Public agencies administer about 56 percent of the area and 70 percent of the sawtimber volume, farmer and miscellaneous private ownerships account for 37 percent of the area but only...

  5. Parks, Trees, and Environmental Justice: Field Notes from Washington, DC

    Science.gov (United States)

    Buckley, Geoffrey L.; Whitmer, Ali; Grove, J. Morgan

    2013-01-01

    Students enrolled in a graduate seminar benefited in multiple ways from an intensive 3-day field trip to Washington, DC. Constructed around the theme of environmental justice, the trip gave students a chance to learn about street tree distribution, park quality, and racial segregation "up close." Working with personnel from the United…

  6. Washington State Juvenile Justice Code: An Experiment in Justice.

    Science.gov (United States)

    Illinois Univ., Champaign. Community Research Center.

    In the Washington State juvenile justice system, serious or repeat offenders receive the full panoply of due process rights and procedures, with the exception of jury trials; minor offenders are diverted to community boards that require community service or victim restitution; and status offenders are removed from the courts' jurisdiction and…

  7. Composition at Washington State University: Building a Multimodal Bricolage

    Science.gov (United States)

    Ericsson, Patricia; Hunter, Leeann Downing; Macklin, Tialitha Michelle; Edwards, Elizabeth Sue

    2016-01-01

    Multimodal pedagogy is increasingly accepted among composition scholars. However, putting such pedagogy into practice presents significant challenges. In this profile of Washington State University's first-year composition program, we suggest a multi-vocal and multi-theoretical approach to addressing the challenges of multimodal pedagogy. Patricia…

  8. Hello Mr. President! Rollenspiele zwischen Hollywood und Washington

    NARCIS (Netherlands)

    Mehring, F.

    2016-01-01

    Hello Mr. President Rollenspiele zwischen Hollywood und Washington Am 8. November 2016 entscheidet sich, wer zum 58. Präsidenten der USA gewählt wird: Die ehemalige Außenministerin Hillary Clinton oder der republikanische Kandidat Donald Trump. In der heißen Phase des Wahlkampfs fällt besonders

  9. Surveillance for Ceratomyxa shasta in the Puget Sound watershed, Washington.

    Science.gov (United States)

    Stocking, Richard W; Lorz, Harriet V; Holt, Richard A; Bartholomew, Jerri L

    2007-06-01

    Discovery of fish exhibiting clinical signs of ceratomyxosis in Washington State prompted concern over the potential impact of the myxozoan parasite Ceratomyxa shasta on native stocks of steelhead Oncorhynchus mykiss (anadromous rainbow trout). To investigate these concerns, a survey of 16 freshwater systems within the Puget Sound watershed, including Lake Washington, was conducted by sentinel exposure of susceptible fish (cutthroat trout O. clarkii and rainbow trout). Fish were exposed for 7 d during September 2003 and May 2004 and then were returned to a holding facility for monitoring of disease signs. Mortality caused by the parasite occurred only in the exposure group held at the University of Washington Hatchery, which receives its water from Portage Bay of Lake Washington. Fish from all other sites were negative for C. shasta, both visually and by polymerase chain reaction (PCR) assay, except for a single fish held at the Tumwater Falls Hatchery in September 2003. A single deformed spore was detected in that fish, but infection could not be confirmed by PCR and the parasite was not detected from any other fish held at that site during either the September or the May exposure. From these results, we conclude that C. shasta is not likely to have contributed significantly to the decline of steelhead populations throughout Puget Sound.

  10. Washington State Student Achievement Initiative Policy Study: Final Report

    Science.gov (United States)

    Jenkins, Davis; Wachen, John; Moore, Colleen; Shulock, Nancy

    2012-01-01

    In 2007, the Washington State Board for Community and Technical Colleges launched a performance funding policy called the Student Achievement Initiative (SAI) both to improve public accountability by more accurately describing what students achieve from enrolling in community colleges and to provide incentives to colleges through financial rewards…

  11. Diversity of Rhizobium leguminosarum from pea fields in Washington State

    Science.gov (United States)

    Rhizobia-mediated biological nitrogen (N) fixation in legumes contributes to yield potential in these crops and also provides residual fertilizer to subsequent cereals. Our objectives were to collect isolates of Rhizobium leguminosarum from several pea fields in Washington, examine genetic diversity...

  12. Precollege (Remedial) Education. Washington's Community and Technical Colleges

    Science.gov (United States)

    Washington State Board for Community and Technical Colleges, 2015

    2015-01-01

    Washington's community and technical colleges are fundamentally transforming precollege (remedial) education to move students faster into credit-bearing classes. The state's colleges are working with high schools to prevent the need for remediation. They are also shortening the path for college students of all ages who need the extra help. Courses…

  13. Booker T. Washington's Audacious Vocationalist Philosophy

    Science.gov (United States)

    Lewis, Theodore

    2014-01-01

    Booker T. Washington was born a slave in the American South, rising remarkably in the period after slavery to become a leader of his race. His advocacy of appeasement with the Southern white establishment incurred the ire of his black peers, given the withdrawal of the franchise from ex-slaves in southern states after a brief period of positive…

  14. Huxley College of Environmental Studies, Western Washington University.

    Science.gov (United States)

    Miles, John C.

    1987-01-01

    Describes the programs of Huxley College (Washington) which were designed to provide an environmental studies thread through all of its academic endeavors. Addresses the development of the curriculum of both the undergraduate and graduate levels. Discusses its research focal points and its prospects for the future. (TW)

  15. Language Policy and Bilingual Education in Arizona and Washington State

    Science.gov (United States)

    Johnson, Eric J.; Johnson, David Cassels

    2015-01-01

    In this paper, we compare the bilingual/language education policies of Arizona and Washington to show that state-level language policy plays a critical role in shaping the appropriation of federal language policy [No Child Left Behind Act (NCLB), Title III] and how different state-level language policies impact the district level of policy…

  16. 78 FR 59414 - Environmental Impact Statement; King County, Washington

    Science.gov (United States)

    2013-09-26

    ... Federal Highway Administration Environmental Impact Statement; King County, Washington AGENCY: Federal Highway Administration (FHWA), DOT. ACTION: Notice of Intent to prepare an environmental impact statement... Environmental Impact Statement (EIS) will be prepared for a proposed project to (1) manage congestion and...

  17. Experience with Honeycrisp apple storage management in Washington

    Science.gov (United States)

    High demand and premium pricing have led to rapid increases in Honeycrisp plantings and fruit volume in Washington State, USA since introduction of the cultivar in 1999. Most fruit is packed and sold by January because of strong demand coupled with difficulties associated with extended storage. Howe...

  18. De gota em gota: violência, tempo e troca em Urabá, Colômbia

    Directory of Open Access Journals (Sweden)

    Silvia Monroy

    2014-12-01

    Full Text Available Comparo, neste texto, a modalidade de empréstimo de dinheiro imposta pelos "gota a gota" com a minha experiência como voluntária no Banco de la Esperanza,em Urabá, considerada uma das regiões mais violentas da Colômbia durante, pelo menos, quatro décadas. Mediante este contraste, passo a analisar a relação entre o que denomino "presente permanente" e determinados aspectos da troca, a saber: "o costume de ficar devendo", "a necessidade de pedir emprestado", e o imperativo de que "tudo deve ser dado". No caso estudado, tais efeitos são aspectos primordiais da vida coletiva e da reprodução social. Busco, em particular, explorar a relação entre violência e "economia", vínculo que costuma ser relegado ao campo da ilegalidade.

  19. [The Arabic influence in the "Colóquios dos simples e drogas da India" of Garcia da Orta].

    Science.gov (United States)

    Ricordel, Joëlle

    2015-09-01

    The "Colóquios dos simples e drogas he cousas medicinais de Índia" (Conversations on the simples, drugs and medicinal substances of India) (1563) of Garcia da Orta is a botanical and pharmacognosy book. The author is a Portuguese physician who studied in the Spanish universities and practiced medicine mainly in India. He studies in short chapters presented in the form of dialogues about sixty simples. Sources to which he refers are indicative of a "classical" training, but also the mark of a curious and open mind to different cultures. The Arabic sources are numerous and mainly concern the identification of substances by abundant synonyms of their names in foreign languages and different medicinal uses that may have been done by the ancient physicians. However, Da Orta is critical with respect to these sources, seeking contradictions and differences of opinion among authors. He confronts them with the oral information collected thanks to a wide network of contacts.

  20. "Crosslinking"de colágeno no tratamento do ceratocone Collagen crosslinking for the treatment of keratoconous

    Directory of Open Access Journals (Sweden)

    Rodrigo Coelho Amaral

    2009-12-01

    Full Text Available Em meados da década de 90, o crosslinking de colágeno corneano foto-induzido utilizando riboflavina foi proposto como uma nova modalidade terapêutica no tratamento do ceratocone. Desde então foram estudados os efeitos deste procedimento em ambiente laboratorial e posteriormente em ensaios clínicos. Neste artigo, revisamos a literatura que já foi publicada até o momento no intuito de expor sobre o procedimento e seus efeitos.In middle of 90th decade, corneal collagen crosslinking photo-induced by riboflavin was considered as a new therapeutical modality in the treatment of keratoconus. Since then, the clinical effect of this procedure in laboratorial environment and clinical assays had been studied. In this article, we revise the literature already published until the moment in order to display on the procedure and its effects.

  1. Art i cultura material de la Xina en les col·leccions privades de la Barcelona vuitcentista

    OpenAIRE

    Ginés Blasi, Mònica

    2015-01-01

    Aquest article se centra en la recepció d’art i mostres de cultura material de la Xina en les col·leccions privades de la Barcelona vuitcentista. Amb l’objectiu de copsar-ne l’abast, de temptejar-ne les característiques i d’establir-ne uns límits cronològics, s’han revisat els catàlegs de les primeres exposicions d’art antic de Barcelona i la documentació relativa a adquisicions, donacions, llegats i ingressos als primers museus de la ciutat. La presència d’art de la Xina era ja molt notable ...

  2. Mutations in the codon for a conserved arginine-1563 in the COL4A5 collagen gene in Alport syndrome

    DEFF Research Database (Denmark)

    Zhou, J; Gregory, M C; Hertz, Jens Michael

    1993-01-01

    We have screened 110 unrelated Alport syndrome kindreds for mutations in the exon 48 region of the COL4A5 collagen gene. Denaturing gradient gel electrophoresis (DGGE) of the PCR-amplified region of exon 48 revealed sequence variants in DNA from affected males and carriers of three unrelated...... for arginine to the translation stop codon TGA. In Utah kindred 2123 and in the Danish kindred A13, there was a C-->T mutation in the noncoding strand changing the same codon to CAA for glutamine. Both mutations were confirmed by allele-specific hybridization on PCR-amplified DNA from other family members....... kindreds. All three kindreds have classical Alport syndrome of the juvenile type. DNA-sequencing analyses demonstrated two different single base changes in the codon for arginine-1563 located in exon 48. In Utah kindred 2103, there was a substitution of C by T resulting in the change of the CGA codon...

  3. A auditoria e o mercado acionário latino-americano: casos Brasil, Argentina e Colômbia

    OpenAIRE

    Belky Esperanza Gutierrez Castañeda

    2011-01-01

    O fortalecimento de um mercado acionário está relacionado diretamente com a transparência e confiabilidade da informação disponível para os usuários desses mercados. Com este fim, o auditor e o seu trabalho, divulgado através do relatório de auditoria, configuram-se como garantias da realidade econômica e contábil das empresas de capital aberto. No entanto, na realidade latino-americana (nos casos do Brasil, Colômbia e Argentina), ainda não se tem quantificado o impacto que o auditor, e o rel...

  4. “La simbología masónica en el Cementerio de Colón”

    Directory of Open Access Journals (Sweden)

    Janet Iglesias Cruz

    2010-01-01

    Full Text Available Los monumentos funerarios son parte de la vida de los pueblos. Una puesta en escena, a través de la piedra, de sus sueños, cumplidos o no. Al transitar por el cementerio de Colón de la Ciudad de La Habana, asistimos a la petrificación de parte del “imaginario colectivo” capitalino. En este ensayo centramos nuestra atención en la presencia de la simbología masónica, a partir de algunos monumentos mortuorios presentes en este recinto. Uno de nuestros objetivos fue registrar la presencia de las logias en el Cementerio y constatar las diversas maneras en que su simbología está presente en sus monumentos funerarios.

  5. Prise en charge du cancer du col utérin durant la grossesse: à propos de 05 cas

    OpenAIRE

    El Mazghi, Abderrahman; Bouhafa, Touria; Loukili, Kaoutar; El Kacemi, Hanan; Lalya, Issam; Hassouni, Khalid

    2014-01-01

    L'association d'un cancer du col utérin avec une grossesse est une éventualité rare. Son incidence est assez mal évaluée, elle se situe selon les études entre 1 et 2/10 000. Lorsque la découverte en est faite, il faut conjuguer deux impératifs parfois totalement divergents: le traitement de la mère et la prise en charge du foetus. Cette association pose schématiquement quatre grands problèmes, qui sont: Celui du diagnostic, qui est loin d’être évident, compte tenu des remaniements cervicaux o...

  6. O trote no Colégio Naval: uma visão antropológica

    Directory of Open Access Journals (Sweden)

    Celso Castro

    2009-12-01

    Full Text Available Este artigo, originalmente escrito em 1985, foi acrescentado de um prefácio e um posfácio. Ele apresenta uma pesquisa sobre o trote no Colégio Naval que teve como evento-chave um drama social (nos termos de Victor Turner: a expulsão de vários veteranos após terem sido denunciados por um calouro. Os dados empíricos provêm de um conjunto de entrevistas com cinco antigos alunos da mesma turma. A hipótese principal é de que o trote é um rito de passagem que focaliza o aprendizado da hierarquia para a vida militar.

  7. A de novo COL1A2 gene mutation in a fetus with severe osteogenesis imperfect and phenotype-genotype correlation analysis%COL1A2新突变致胎儿严重成骨不全症1例报告并表型基因型关联性文献复习

    Institute of Scientific and Technical Information of China (English)

    董辰; 刘姜睿璇; 杨琳; 任芸芸; 周文浩

    2016-01-01

    目的 总结1例COL1A2新突变致胎儿严重成骨不全症(OI)的临床特征及基因突变的特点,为胎儿产前咨询提供依据.方法 对产检B超检查示OI可能的胎儿流产组织抽提DNA进行基因型分析,自行设计COL1A1和COL1A2所有外显子及剪接区域的引物.利用Sanger测序法对胎儿行COL1A1和COL1A2基因外显子及剪接区域的测序分析并行父母验证.依据人类基因突变数据库(HGMD)专业版,对COL1A2突变所致疾病临床表型行文献复习.结果 胎儿的COL1A1和COL1A2基因均检测出变异位点.COL1A2基因检测到杂合突变(c.3142G>T,p.Glu1048Cys)在寡核苷酸多态性数据库、HGMD及I型胶原蛋白突变数据库均未见报道,结合胎儿父母验证为新发突变,对比公共数据库及在线预测软件预测该突变类型为致病突变.在HGMD专业版中搜索COL1A2,共检索到387个COL1A2致病突变,与21种疾病及其亚型相关.92%的突变引起OI或其亚型,还可引起Ehlers-Danlos综合征或其亚型.结合COL1A2突变所致疾病临床表型行文献复习,本文报告胎儿符合Ⅱ型OI.结论 产前通过超声影像结合基因分型诊断胎儿为COL1A2基因新发突变(c.3142G>T,p.Glu1048Cys)所致Ⅱ型OI;COL1A2基因编码蛋白长链双螺旋的400 ~ 480氨基酸及MLBR 3区域中甘氨酸被天冬氨酸或谷氨酸替代,多导致严重表型的OI;本文为产前准确预测胎儿结局、指导临床决策提供依据.

  8. Developmental Changes of Col3al mRNA Expression in Muscle and Their Association with Intramuscular Collagen in Pigs%猪肌肉组织Col3a1基因表达的发育性变化及其对肌内胶原特性的影响

    Institute of Scientific and Technical Information of China (English)

    包新见; 曾勇庆; 魏述东; 王刚; 刘婵娟; 孙延晓; 陈其美; 李华

    2007-01-01

    以30~90 kg体重莱芜猪和40~100 kg体重鲁莱黑猪共84头去势公猪为试验对象(每组6头),采用相对定量RT-PCR方法,以β-actin作为内标,研究肌肉中编码Ⅲ型胶原的Col3al基因表达的发育性变化及其对肌肉中胶原蛋白含量和性质(溶解度)的影响.结果表明:研究的两个品种猪肌肉中Col3al基因表达的发育性变化基本一致,即随体重的增加,肌肉中Col3al mRNA表达呈逐渐增加趋势,但莱芜猪和鲁莱黑猪分别在70 kg和80 kg体重组表达量略有下降.总体上莱芜猪肌肉组织Col3al mRNA表达丰度显著高于鲁莱黑猪(P<0.05).相关分析表明,莱芜猪肌肉组织Col3al mRNA表达的发育性变化与总胶原和不溶性胶原含量呈极显著正相关(P<0.01),与胶原溶解度呈极显著负相关(P<0.01).鲁莱黑猪肌肉组织Col3al mRNA表达的发育性变化与不溶性胶原和胶原溶解度分别呈显著正相关和负相关(P<0.05).研究结果提示:猪肌肉组织中Col3al基因表达具有明显的体重发育和品种特征,其mRNA表达对于肌内胶原的含量和性质有重要影响.%Eighty-four castrated boars including Laiwu Black (LW) (weight 30-90 kg, n = 6) and Lulai Black (LL) (weight 40-100 kg, n = 6) were used to study the developmental changes of collagen type Ⅲ alpha 1 (Col3al) mRNA expression in the muscle and their association with intramuscular collagen (IMC). The muscle total RNA was extracted to determine the abundance of Col3al mRNA using relative quantitative RT-PCR with β-actin mRNA as the internal standard. The results indicated that the developmental patterns of muscle Col3al mRNA in LW and LL pigs were similar. The abundance of Col3al mRNA increased with body weight, but decreased a little at 70 kg and 80 kg phases for LW and LL, respectively. On the whole, the expression level of Col3al mRNA in muscle of LW was higher than that of LL (P < 0.05). Correlation analysis showed that the expression of Col3al m

  9. Effects of the presence of ColE1 plasmid DNA in Escherichia coli on the host cell metabolism

    Directory of Open Access Journals (Sweden)

    Węgrzyn Alicja

    2006-11-01

    Full Text Available Abstract Background Although understanding of physiological interactions between plasmid DNA and its host is important for vector design and host optimization in many biotechnological applications, to our knowledge, global studies on plasmid-host interactions have not been performed to date even for well-characterized plasmids. Results Escherichia coli cells, either devoid of plasmid DNA or bearing plasmid pOri1 (with a single ColE1 replication origin or plasmid pOri2 (with double ColE1 replication origins, were cultured in a chemostat. We used a combination of metabolic flux analysis, DNA microarray and enzyme activity analysis methods to explore differences in the metabolism between these strains. We found that the presence of plasmids significantly influenced various metabolic pathways in the host cells, e.g. glycolysis, the tricarboxylic acid (TCA cycle and the pentose phosphate (PP pathway. Expression of rpiA, a gene coding for ribose-5-phosphate isomerase A, was considerably decreased in E. coli carrying a high copy number plasmid relative to E. coli carrying a low copy number plasmid and plasmid-free E. coli. The rpiA gene was cloned into an expression vector to construct plasmid pETrpiA. Following induction of pETrpiA-bearing E. coli, which harbored either pOri1 or pOri2, with isopropyl-β-D-thiogalactopyranoside (IPTG, the copy number of pOri1 and pOri2 was sigificantly higher than that measured in a host devoid of pETrpiA. Conclusion The presence of plasmids can significantly influence some metabolic pathways in the host cell. We believe that the results of detailed metabolic analysis may be useful in optimizing host strains, vectors and cultivation conditions for various biotechnological purposes.

  10. Acesso endoscópico transepto-interforniceal para cistos colóides: relato de caso

    Directory of Open Access Journals (Sweden)

    VIALOGO JOSUÉ GUIMARÃES GRANHA

    2000-01-01

    Full Text Available A abordagem endoscópica de cistos colóides ainda é matéria controversa. As opções de tratamento são variadas: observação com exames seriados, tratamento da hidrocefalia, aspiração por estereotaxia, microcirurgia e endoscopia. O autor relata o caso de um paciente com cisto colóide do terceiro ventrículo, localizado em posição retroforaminal, no teto diencefálico, dissecando os dois fornices projetando-se supero-posteriormente em direção ao assoalho do ventrículo lateral, por dentro do cavum do septo pelúcido. A lesão foi alcançada com neuroendoscópio rígido, através de um orifício de trépano pré-coronal situado a 2,5 cm da linha média (ponto de Kocher. Seguindo por via transventricular, a lâmina direita do septo pelúcido foi aberta, posterior à veia septal. A lesão, muito endurecida, situada entre os dois fórnices, foi parcialmente ressecada através da via endoscópica transventricular transepto-interforniceal. Realizamos também septostomia e terceiro ventriculostomia endoscópicas neste paciente. Os diferentes tipos de procedimentos cirúrgicos das patologias situadas no terceiro ventrículo são discutidos com ênfase no papel da endoscopia.

  11. Métastase cérébrale d'un carcinome du col utérin

    Science.gov (United States)

    Chekrine, Tarik; Hassouni, Abdesalam; Jouhadi, Hassan; Sahraoui, Souha; Bouchbika, Zineb; Taleb, Amina; Benchakroun, Nadia; Tawfiq, Nezha; Benider, Abdellatif

    2013-01-01

    Les métastases cérébrales des cancers du col de l′utérus sont extrêmement rares. Elles sont généralement supra-tentorielles, survenant à un stade avancé de la maladie et dans un cadre de néoplasie polymétastatique. La tumeur primitive est le plus souvent un carcinome épidermoïde peu différencié. Leur pronostic reste sombre malgré toutes les options thérapeutiques. Vu la rareté de cet événement et le peu de cas publiés dans la littérature, nous rapportons l'observation clinique d'une jeune patiente de 44 ans, opérée pour un carcinome du col utérin et qui présente 14 mois plus tard des métastases cérébrales sus et sous tentorielles associées à des métastases ganglionnaires lombo-aortique, médiastinale et sus-claviculaire. Elle a bénéficié d'un traitement palliatif associant une chimiothérapie et une radiothérapie pan encéphalique. Devant l'altération rapide de l'état général, la patiente a été mise sous un traitement symptomatique et des soins de support. PMID:23717727

  12. Extracellular zinc induces phosphoethanolamine addition to Pseudomonas aeruginosa lipid A via the ColRS two-component system.

    Science.gov (United States)

    Nowicki, Emily M; O'Brien, John P; Brodbelt, Jennifer S; Trent, M Stephen

    2015-07-01

    Gram-negative bacteria survive harmful environmental stressors by modifying their outer membrane. Much of this protection is afforded upon remodeling of the lipid A region of the major surface molecule lipopolysaccharide (LPS). For example, the addition of cationic substituents, such as 4-amino-4-deoxy-L-arabinose (L-Ara4N) and phosphoehthanolamine (pEtN) at the lipid A phosphate groups, is often induced in response to specific environmental flux stabilizing the outer membrane. The work herein represents the first report of pEtN addition to Pseudomonas aeruginosa lipid A. We have identified the key pEtN transferase which we named EptAPa and characterized its strict activity on only one position of lipid A, contrasting from previously studied EptA enzymes. We further show that transcription of eptAP a is regulated by zinc via the ColRS two-component system instead of the PmrAB system responsible for eptA regulation in E. coli and Salmonella enterica. Further, although L-Ara4N is readily added to the same position of lipid A as pEtN under certain environmental conditions, ColR specifically induces pEtN addition to lipid A in lieu of L-Ara4N when Zn2+ is present. The unique, specific regulation of eptAP a transcription and enzymatic activity described in this work demonstrates the tight yet inducible control over LPS modification in P. aeruginosa. © 2015 John Wiley & Sons Ltd.

  13. Distribuciones simuladas de valores de d13c de colágeno humano: implicancias para los estudios paleodietarios

    Directory of Open Access Journals (Sweden)

    Barrientos, Gustavo

    2005-01-01

    Full Text Available El objetivo de este trabajo es presentar los primeros resultados derivados de la aplicación de un programa de simulación de distribuciones de valores de δ13C de colágeno humano (DeltaCarb130.0, desarrollado por los autores. DeltaCarb130.0 es un programa simple que simula la composición isotópica (δ13C del colágeno de huesos humanos obtenida a través de una dieta de composición variable, constituida por tres ingestas diarias, durante un período de 1825 días (5 años. La composición de la dieta y los valores de δ13C de cada recurso dietario (vegetales C3 y C4, carne de herbívoros consumidores de C3 y C4, de mamíferos marinos, de peces y moluscos se obtienen, en cada etapa de la simulación, a través de un proceso aleatorio a partir de datos de abundancia relativa y rangos de valores de δ13C de cada tipo de recurso. Se analizarán estadísticamente las distribuciones de valores de δ13C obtenidas a partir de n corridas del programa para cada combinación dietaria, con la finalidad de obtener medidas de tendencia central y de dispersión asociadas a cada tipo de dieta y calcular la probabilidad de obtener valores "outliers", un rasgo frecuente en el estudio de casos arqueológicos.

  14. Death with dignity in Washington patients with amyotrophic lateral sclerosis.

    Science.gov (United States)

    Wang, Leo H; Elliott, Michael A; Jung Henson, Lily; Gerena-Maldonado, Elba; Strom, Susan; Downing, Sharon; Vetrovs, Jennifer; Kayihan, Paige; Paul, Piper; Kennedy, Kate; Benditt, Joshua O; Weiss, Michael D

    2016-11-15

    To describe the amyotrophic lateral sclerosis (ALS) patients who sought medication under the Washington State Death with Dignity (DWD) Act since its inception in 2009. Chart review at 3 tertiary medical centers in the Seattle/Puget Sound region and comparison to publicly available data of ALS and all-cause DWD cohorts from Washington and Oregon. In Washington State, 39 patients with ALS requested DWD from the University of Washington, Virginia Mason, and Swedish Medical Centers beginning in 2009. The median age at death was 65 years (range 46-86). Seventy-seven percent of the patients used the prescriptions. All of the patients who used the medications passed away without complications. The major reasons for patients to request DWD as reported by participating physicians were loss of autonomy and dignity and decrease in enjoyable activities. Inadequate pain control, financial cost, and loss of bodily control were less commonly indicated. These findings were similar to those of the 92 patients who sought DWD in Oregon. In Washington and Oregon, the percentage of patients with ALS seeking DWD is higher compared to the cancer DWD cohort. Furthermore, compared to the all-cause DWD cohort, patients with ALS are more likely to be non-Hispanic white, married, educated, enrolled in hospice, and to have died at home. Although a small number, ALS represents the disease with the highest proportion of patients seeking to participate in DWD. Patients with ALS who choose DWD are well-educated and have access to palliative or life-prolonging care. The use of the medications appears to be able to achieve the patients' goals without complications. © 2016 American Academy of Neurology.

  15. 78 FR 10562 - Proposed Establishment of Area Navigation (RNAV) Routes; Washington, DC

    Science.gov (United States)

    2013-02-14

    ... (RNAV) Routes; Washington, DC AGENCY: Federal Aviation Administration (FAA), DOT. ACTION: Notice of... the Washington, DC, Optimization of Airspace and Procedures in a Metroplex (OAPM) project. The... departures from the Washington, DC Metropolitan area airports. DATES: Comments must be received on or...

  16. 78 FR 53237 - Establishment of Area Navigation (RNAV) Routes; Washington, DC

    Science.gov (United States)

    2013-08-29

    ...) Routes; Washington, DC AGENCY: Federal Aviation Administration (FAA), DOT. ACTION: Final rule. SUMMARY... Services, Federal Aviation Administration, 800 Independence Avenue SW., Washington, DC 20591; telephone... Register a notice of ] proposed rulemaking (NPRM) to establish two new RNAV routes in the Washington,...

  17. 78 FR 63251 - Board Meeting; November 20, 2013 in Washington, DC

    Science.gov (United States)

    2013-10-23

    ... REVIEW BOARD Board Meeting; November 20, 2013 in Washington, DC The U.S. Nuclear Waste Technical Review..., the U.S. Nuclear Waste Technical Review Board will hold a public meeting in Washington, DC, on...., Washington, DC 20037; Tel. (202) 857-3388. A block of rooms has been reserved at the hotel for...

  18. 36 CFR 1280.60 - Where do I enter the National Archives Building in Washington, DC?

    Science.gov (United States)

    2010-07-01

    ... Archives Building in Washington, DC? 1280.60 Section 1280.60 Parks, Forests, and Public Property NATIONAL... for Using NARA Facilities in the Washington, DC, Area? § 1280.60 Where do I enter the National Archives Building in Washington, DC? (a) To conduct research or official business, you must enter...

  19. 75 FR 41232 - Deer Flat National Wildlife Refuge, Canyon, Owyhee, Payette, and Washington Counties, ID; Malheur...

    Science.gov (United States)

    2010-07-15

    ... Fish and Wildlife Service Deer Flat National Wildlife Refuge, Canyon, Owyhee, Payette, and Washington...). The Refuge has units located in Canyon, Owyhee, Payette, and Washington Counties, ID, and Malheur... the Snake River located in Canyon, Payette, Owyhee, and Washington Counties in ID; and Malheur...

  20. 78 FR 45056 - Drawbridge Operation Regulation; Lake Washington Ship Canal, Seattle, WA

    Science.gov (United States)

    2013-07-26

    ...The Coast Guard has issued a temporary deviation from the operating schedule that governs the Montlake Bridge across the Lake Washington Ship Canal, mile 5.2, at Seattle, WA. The deviation is necessary to accommodate vehicular traffic attending football games at Husky Stadium at the University of Washington, Seattle, Washington. This deviation allows the bridge to remain in the closed position......

  1. 78 FR 78808 - Proposed Flood Elevation Determinations for Pierce County, Washington, and Incorporated Areas

    Science.gov (United States)

    2013-12-27

    ... Pierce County, Washington, and Incorporated Areas AGENCY: Federal Emergency Management Agency, DHS... its proposed rule concerning proposed flood elevation determinations for Pierce County, Washington... sources in Pierce County, Washington. On April 16, 2012, FEMA published a proposed rulemaking at 77 FR...

  2. 76 FR 9051 - Notice of Inventory Completion: Washington State Department of Natural Resources, Olympia, WA and...

    Science.gov (United States)

    2011-02-16

    ... National Park Service Notice of Inventory Completion: Washington State Department of Natural Resources... inventory of human remains in the control of the Washington State Department of Natural Resources, Olympia... control of the Washington State Department of Natural Resources at the time of removal, and as such...

  3. 78 FR 47778 - The Boeing Company Boeing Commercial Aircraft (BCA) Auburn, Washington; The Boeing Company Boeing...

    Science.gov (United States)

    2013-08-06

    ...; TA-W-82,705E] The Boeing Company Boeing Commercial Aircraft (BCA) Auburn, Washington; The Boeing Company Boeing Commercial Aircraft (BCA) Everett, Washington; The Boeing Company Boeing Commercial Aircraft (BCA) Puyallup, Washington; The Boeing Company Boeing Commercial Aircraft (BCA) Including Four...

  4. 75 FR 36672 - Notice of Inventory Completion: Thomas Burke Memorial Washington State Museum, University of...

    Science.gov (United States)

    2010-06-28

    ... National Park Service Notice of Inventory Completion: Thomas Burke Memorial Washington State Museum... Washington State Museum (Burke Museum), University of Washington, Seattle, WA. The human remains were removed... sole responsibility of the museum, institution, or Federal agency that has control of the...

  5. 77 FR 33456 - Public Water Supply Supervision Program; Program Revision for the State of Washington

    Science.gov (United States)

    2012-06-06

    ... AGENCY Public Water Supply Supervision Program; Program Revision for the State of Washington AGENCY... that the State of Washington has revised its approved State Public Water Supply Supervision Primacy... Water, ] 243 Israel Road SE., 2nd floor, Tumwater, Washington 98501 and between the hours of 9:00...

  6. 76 FR 366 - Public Water Supply Supervision Program; Program Revision for the State of Washington

    Science.gov (United States)

    2011-01-04

    ... AGENCY Public Water Supply Supervision Program; Program Revision for the State of Washington AGENCY... that the State of Washington has revised its approved State Public Water Supply Supervision Primacy Program. Washington has adopted a definition for public water system that is analogous to EPA's...

  7. Habitat fragmentation and the persistence of lynx populations in Washington state

    Science.gov (United States)

    Gary M Koehler; Benjamin T. Maletzke; Jeff A. Von Kienast; Keith B. Aubry; Robert B. Wielgus; Robert H. Naney

    2008-01-01

    Lynx (Lynx canadensis) occur in the northern counties of Washington state, USA; however, current distribution and status of lynx in Washington are poorly understood. During winters 2002-2004 we snow-tracked lynx for 155 km within a 211-km2 area in northern Washington, to develop a model of lynx-habitat relationships that we...

  8. Basic Education for Adults: Pathways to College and Careers for Washington's Emerging Workforce. Washington's Community and Technical Colleges

    Science.gov (United States)

    Washington State Board for Community and Technical Colleges, 2015

    2015-01-01

    This brief describes the Basic Education for Adults (BEdA) programs that bridge the gap between school and work, thereby creating pathways to college and careers for Washington's emerging workforce. BEdA programs teach foundational skills--reading, writing, math, technology and English language--so adults can move through college and into…

  9. COL5A1: Fine genetic mapping, intron/exon organization, and exclusion as candidate gene in families with tuberous sclerosis complex 1, hereditary hemorrhagic telangiectasia, and Ehlers-Danlos syndrome type II

    Energy Technology Data Exchange (ETDEWEB)

    Greenspan, D.S. [Univ. of Wisconsin, Madison, WI (United States); Papenberg, K.A.; Marchuk, D.A. [Duke Univ., Durham, NC (United States)] [and others

    1994-09-01

    Type V collagen is the only fibrillar collagen which has yet to be implicated in the pathogenesis of genetic diseases in humans or mice. To begin examining the possible role of type V collagen in genetic disease, we have previously mapped COL5A1, the gene for the {alpha}1 chain of type V collagen, to 9q23.2{r_arrow}q34.3 and described two restriction site polymorphisms which allowed us to exclude COL5A1 as candidate gene for nail-patella syndrome. We have now used these polymorphisms to exclude COL5A1 as candidate gene for tuberous sclerosis complex 1 and Ehlers-Danlos syndrome type II. In addition, we describe a CA repeat, with observed heterozygosity of about 0.5, in a COL5A1 intron, which has allowed us to exclude COL5A1 as a candidate gene in hereditary hemorrhagic telangiectasia and to place COL5A1 on the CEPH family genetic map between markers D9S66 and D9S67. We have also determined the entire intron/exon organization of COL5A1, which will facilitate characterization of mutations in genetic diseases with which COL5A1 may be linked in future studies.

  10. Somatic mosaicism for the COL7A1 mutation p.Gly2034Arg in the unaffected mother of a patient with dystrophic epidermolysis bullosa pruriginosa

    NARCIS (Netherlands)

    van den Akker, P. C.; Pasmooij, A. M. G.; Meijer, R.; Scheffer, H.; Jonkman, M. F.

    Dystrophic epidermolysis bullosa (DEB) is a heritable blistering disorder caused by mutations in the type VII collagen gene, COL7A1. Although revertant mosaicism is well known in DEB, 'forward' somatic mosaicism, in which a pathogenic mutation arises on a wild-type (WT) background, extending beyond

  11. Somatic mosaicism for the COL7A1 mutation p.Gly2034Arg in the unaffected mother of a patient with dystrophic epidermolysis bullosa pruriginosa

    NARCIS (Netherlands)

    Akker, P.C. van den; Pasmooij, A.M.; Meijer, R.; Scheffer, H.; Jonkman, M.F.

    2015-01-01

    Dystrophic epidermolysis bullosa (DEB) is a heritable blistering disorder caused by mutations in the type VII collagen gene, COL7A1. Although revertant mosaicism is well known in DEB, 'forward' somatic mosaicism, in which a pathogenic mutation arises on a wild-type (WT) background, extending beyond

  12. SIN retroviral vectors expressing COL7A1 under human promoters for ex vivo gene therapy of recessive dystrophic epidermolysis bullosa.

    Science.gov (United States)

    Titeux, Matthias; Pendaries, Valérie; Zanta-Boussif, Maria A; Décha, Audrey; Pironon, Nathalie; Tonasso, Laure; Mejia, José E; Brice, Agnes; Danos, Olivier; Hovnanian, Alain

    2010-08-01

    Recessive dystrophic epidermolysis bullosa (RDEB) is caused by loss-of-function mutations in COL7A1 encoding type VII collagen which forms key structures (anchoring fibrils) for dermal-epidermal adherence. Patients suffer since birth from skin blistering, and develop severe local and systemic complications resulting in poor prognosis. We lack a specific treatment for RDEB, but ex vivo gene transfer to epidermal stem cells shows a therapeutic potential. To minimize the risk of oncogenic events, we have developed new minimal self-inactivating (SIN) retroviral vectors in which the COL7A1 complementary DNA (cDNA) is under the control of the human elongation factor 1alpha (EF1alpha) or COL7A1 promoters. We show efficient ex vivo genetic correction of primary RDEB keratinocytes and fibroblasts without antibiotic selection, and use either of these genetically corrected cells to generate human skin equivalents (SEs) which were grafted onto immunodeficient mice. We achieved long-term expression of recombinant type VII collagen with restored dermal-epidermal adherence and anchoring fibril formation, demonstrating in vivo functional correction. In few cases, rearranged proviruses were detected, which were probably generated during the retrotranscription process. Despite this observation which should be taken under consideration for clinical application, this preclinical study paves the way for a therapy based on grafting the most severely affected skin areas of patients with fully autologous SEs genetically corrected using a SIN COL7A1 retroviral vector.

  13. Horizontal gene transfer of a ColV plasmid has resulted in a dominant avian clonal type of Salmonella enterica serovar Kentucky.

    Directory of Open Access Journals (Sweden)

    Timothy J Johnson

    Full Text Available Salmonella enterica continues to be a significant cause of foodborne gastrointestinal illness in humans. A wide variety of Salmonella serovars have been isolated from production birds and from retail poultry meat. Recently, though, S. enterica subsp. enterica serovar Kentucky has emerged as one of the prominent Salmonella serovars isolated from broiler chickens. Recent work suggests that its emergence apparently coincides with its acquisition of a ColV virulence plasmid. In the present study, we examined 902 Salmonella isolates belonging to 59 different serovars for the presence of this plasmid. Of the serovars examined, the ColV plasmid was found only among isolates belonging to the serovars Kentucky (72.9%, Typhimurium (15.0% and Heidelberg (1.7%. We demonstrated that a single PFGE clonal type of S. Kentucky harbors this plasmid, and acquisition of this plasmid by S. Kentucky significantly increased its ability to colonize the chicken cecum and cause extraintestinal disease. Comparison of the completed sequences of three ColV plasmids from S. Kentucky isolated from different geographical locales, timepoints and sources revealed a nearly identical genetic structure with few single nucleotide changes or insertions/deletions. Overall, it appears that the ColV plasmid was recently acquired by a single clonal type S. Kentucky and confers to its host enhanced colonization and fitness capabilities. Thus, the potential for horizontal gene transfer of virulence and fitness factors to Salmonella from other enteric bacteria exists in poultry, representing a potential human health hazard.

  14. COL1A2 gene analysis in a Czech osteogenesis imperfecta patient: a candidate novel mutation in a patient affected by osteogenesis imperfecta type 3

    Directory of Open Access Journals (Sweden)

    Hrušková L

    2015-08-01

    Full Text Available Lucie Hrušková,1 Ivo Mařík,2,3 Stella Mazurová,1 Pavel Martásek,1 Ivan Mazura1 1Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University in Prague, Prague, Czech Republic; 2Ambulant Centre for Defects of Locomotor Apparatus 1.1.c., Prague, Czech Republic; 3Faculty of Medical Studies, West Bohemia University, Pilsen, Czech RepublicAbstract: Osteogenesis imperfecta is a heritable bone fragility disease with a heterogenic genetic origin. Most cases result from mutations of either the COL1A1 gene or the COL1A2 gene. We identified a novel COL1A2 gene mutation in a Czech patient, born to unaffected parents, who was diagnosed according to clinical and anthropometric findings and radiographic features as having type 3 osteogenesis imperfecta, which is a severe form of this disease. The identified Gly814Trp mutation was predicted by a number of complementary bioinformatic programs to result in functional alteration of the protein. This case report provides both evidence of a novel COL1A2 mutation resulting in type 3 osteogenesis imperfecta and a genotype:phenotype correlation in this affected individual. Keywords: osteogenesis imperfecta type 3, collagen, alpha-2 (I chain, substitution, sequencing 

  15. Morfometria das fibras colágeno cardíaco em ratos sadios e diabéticos suplementados com vitamina C

    Directory of Open Access Journals (Sweden)

    Thiago Guerra Diniz

    2011-12-01

    Full Text Available O aumento do conteúdo de fibras colágenas no coração de diabéticos é um fato bastante conhecido, suas conseqüências ainda são objeto de estudo e causam certa controvérsia, portanto este trabalho objetivou estudar a variação na quantidade das fibras de colágeno cardíacas em animais normais e diabéticos tratados pela vitamina C. Para isso foram selecionados 32 ratos Wistar, 16 diabéticos induzidos pela injeção endovenosa de estreptozootocina e 16 normais, sendo metade deles tratados com Vitamina C (diabéticos e normais por um período de 90 dias. Após período experimental, os corações foram retirados e processados segundo protocolo convencional para microscopia óptica e coloração específica para colágeno. Os resultados mostram que animais diabéticos apresentam maior quantidade de fibras de colágeno cardíacas e que o tratamento com a vitamina C determinou um menor acúmulo na quantidade dessas fibras.

  16. Andamiajes tridimensionales tipo esponjas basados en bioconjugados colágeno-quitosano como potencial biomaterial para aplicaciones en ingeniería de tejidos

    Directory of Open Access Journals (Sweden)

    Mikol Ramos

    2013-01-01

    Full Text Available Nuestro trabajo utiliza quitosano aislado de líneas de desecho de la producción de camarón nativas y colágeno aislado de desechos de la piel de tilapia de cultivo; con estos biopolímeros se sintetizaron materiales compuestos a partir de la mezcla de quitosano y colágeno (80:20 v/v. Los compositos de colágeno-quitosano fueron formulados como andamiajes en 3D similares a una esponja, aplicando tecnologías previamente desarrolladas en nuestro grupo de investigación basadas en evaporación de solvente mediante liofilización. Los andamiajes de colágeno-quitosano fueron caracterizados de acuerdo con sus propiedades térmicas (análisis termogravimétrico y morfología (microscopía de barrido electrónico. Finalmente, se estudió el efecto de la adición de un agente porógeno en las propiedades de absorción de agua y la morfología de los andamiajes tridimensionales.

  17. Somatic mosaicism for the COL7A1 mutation p.Gly2034Arg in the unaffected mother of a patient with dystrophic epidermolysis bullosa pruriginosa

    NARCIS (Netherlands)

    van den Akker, P. C.; Pasmooij, A. M. G.; Meijer, R.; Scheffer, H.; Jonkman, M. F.

    2015-01-01

    Dystrophic epidermolysis bullosa (DEB) is a heritable blistering disorder caused by mutations in the type VII collagen gene, COL7A1. Although revertant mosaicism is well known in DEB, 'forward' somatic mosaicism, in which a pathogenic mutation arises on a wild-type (WT) background, extending beyond

  18. 100 anos da 'psicopatologia geral' de Karl Jaspers : Actas do Colóquio 100 Anos da 'Psicopatologia Geral' de Karl Jaspers

    OpenAIRE

    Teixeira, José A. Carvalho

    2014-01-01

    Publicam-se agora as Actas do Colóquio 100 ANOS DA ‘PSICOPATOLOGIA GERAL’ DE KARL JASPERS, realizado em 19 de Fevereiro de 2014 e organizado pelo Departamento de Psicologia Clínica e da Saúde do ISPA – Instituto Universitário.

  19. Whole-Genome Sequence of Multidrug-Resistant Campylobacter coli Strain COL B1-266, Isolated from the Colombian Poultry Chain.

    Science.gov (United States)

    Bernal, Johan F; Donado-Godoy, Pilar; Arévalo, Alejandra; Duarte, Carolina; Realpe, María E; Díaz, Paula L; Gómez, Yolanda; Rodríguez, Fernando; Agarwala, Richa; Landsman, David; Mariño-Ramírez, Leonardo

    2016-03-17

    Campylobacter coli is considered one of the main causes of food-borne illness worldwide. We report here the whole-genome sequence of multidrug-resistant Campylobacter coli strain COL B1-266, isolated from the Colombian poultry chain. The genome sequences encode genes for a variety of antimicrobial resistance genes, including aminoglycosides, β-lactams, lincosamides, fluoroquinolones, and tetracyclines.

  20. A novel splice variant in the N-propeptide of COL5A1 causes an EDS phenotype with severe kyphoscoliosis and eye involvement.

    Directory of Open Access Journals (Sweden)

    Sofie Symoens

    Full Text Available BACKGROUND: The Ehlers-Danlos Syndrome (EDS is a heritable connective tissue disorder characterized by hyperextensible skin, joint hypermobility and soft tissue fragility. The classic subtype of EDS is caused by mutations in one of the type V collagen genes (COL5A1 and COL5A2. Most mutations affect the type V collagen helical domain and lead to a diminished or structurally abnormal type V collagen protein. Remarkably, only two mutations were reported to affect the extended, highly conserved N-propeptide domain, which plays an important role in the regulation of the heterotypic collagen fibril diameter. We identified a novel COL5A1 N-propeptide mutation, resulting in an unusual but severe classic EDS phenotype and a remarkable splicing outcome. METHODOLOGY/PRINCIPAL FINDINGS: We identified a novel COL5A1 N-propeptide acceptor-splice site mutation (IVS6-2A>G, NM_000093.3_c.925-2A>G in a patient with cutaneous features of EDS, severe progressive scoliosis and eye involvement. Two mutant transcripts were identified, one with an exon 7 skip and one in which exon 7 and the upstream exon 6 are deleted. Both transcripts are expressed and secreted into the extracellular matrix, where they can participate in and perturb collagen fibrillogenesis, as illustrated by the presence of dermal collagen cauliflowers. Determination of the order of intron removal and computational analysis showed that simultaneous skipping of exons 6 and 7 is due to the combined effect of delayed splicing of intron 7, altered pre-mRNA secondary structure, low splice site strength and possibly disturbed binding of splicing factors. CONCLUSIONS/SIGNIFICANCE: We report a novel COL5A1 N-propeptide acceptor-splice site mutation in intron 6, which not only affects splicing of the adjacent exon 7, but also causes a splicing error of the upstream exon 6. Our findings add further insights into the COL5A1 splicing order and show for the first time that a single COL5A1 acceptor-splice site

  1. Effects of COL8A1 siRNA on the proliferation, invasion and drug sensitivity to D-limonence treatment in hepatocarcinoma cells%COL8A1siRNA对肝癌细胞体外增殖、侵袭能力及右旋柠烯药敏性的影响

    Institute of Scientific and Technical Information of China (English)

    赵永福; 贾莉; 马振海; 刘用楫

    2011-01-01

    目的 应用RNA干扰技术下调小鼠肝癌细胞株(Hca-F)COL8A1的表达,通过观察癌细胞的体外增殖、侵袭能力,研究调节COL8A1表达对肿瘤细胞药敏性的影响.方法 采用RTPCR、Western Blot分析干扰前后Hca-F细胞中COL8A1的表达情况.用体外侵袭实验检测干扰前后Hca-F细胞的侵袭能力.用MTT法分析干扰前后Hca-F细胞的增殖情况及其对右旋柠烯(D-limonene)的药敏性.结果 Hca-F/RNAi细胞中COL8A1的表达与未给予RNA干扰处理的对照组及RNA干扰对照组相比出现明显下调;该细胞的增殖及穿过基质胶的侵袭能力下降;同时上调该细胞对D-limonene的药敏性.结论 小鼠肝癌细胞中COL8A1的表达与肿瘤细胞的增殖、侵袭及对抗肿瘤药物的敏感性密切相关,可能为肿瘤的化学治疗提供新靶点.%Objective To investigate the possible effects of COL8A1 on the proliferation, invasion and drug sensitivity of murine hepatocarcinoma cell line Hca-F, we used an RNA interference (RNAi) approach to silence COL8A1 expression. Methods The expression levels of COL8A1 in HcaF/siRNA cells were assessed by RT-PCR and Western blot. The inhibitory effect of RNAi on Hca-F cell invasion in vitro was demonstrated by ECM invasion assay. The in vitro proliferative ability and drug sensitivity of COL8A1-deficient cells were determined by MTT assay. Results The expression of COL8A1 was significantly reduced in COL8A1/siRNA cells after 30h transfection, compared with both the RNAi control and the Hca-F cells. The reduced COL8A1 expression also attenuated the proliferative, invasive ability, as well as increased drug sensitivity of Hca-F/siRNA cells. Conclusion Our current results indicate that the expression of COL8A1 functionally mediates tumor cell proliferation, invasion, and drug sensitivity, and is a potential target for therapeutic anti-cancer drugs.

  2. The people vote on abortion funding: Colorado and Washington.

    Science.gov (United States)

    Donovan, P

    1985-01-01

    On Election Day 1984, Colorado voters narrowly approved an amendment to the state constitution cutting off all public funds for abortion. That same Election Day saw an effort to end abortion funding in the state of Washington fail decisively. In both states, the effort to terminate funding was led by antiabortion activists who sought to characterize the issue as an economic one. Failure of the Colorado Taxpayers for Choice to emphasize the economic impact of the amendment appears to have been a fatal mistake. The coalition, for example, never publicized the fact that the state pays US$400 for prenatal care and US$1,400 for normal delivery, compared with an average of US$269 for an abortion. It emphasized more than any other theme that the amendment would threaten the rights of all women in Colorado to obtain an abortion--claims that were perceived by the public to be exaggerated, even hysterical. The Washington Taxpayers for Choice, on the other hand, confronted the cost issue directly and provided convincing evidence that that the new law would ultimately cost taxpayers millions of dollars. In addition, some political experts believe that that a "grass roots" network of local political activists who go door-to-door canvassing, public speaking and telephoning is essential to prevailing in a referendum. This appears to have been the case in Washington, where abortion foes did not have nearly as extensive a grass roots organization as Washington Taxpayes for Choice. In Colorado, grass roots support for abortion rights has never been fully developed, largely because the governor has maintained a strong prochoice stand for the past 11 years. Groups in California, Oregon, Washington and Massachusetts have announced their intention to terminate public funding for abortions through voter initiatives in the 1986 elections. In any antifunding referendum, voters must be shown clearly that a cutoff of abortion funds could actually cost taxpayers millions of dollars for

  3. 成骨不全症患者COL1A1/2致病突变谱和基因诊断研究%Spectrum of COL1A1/2 mutations and gene diagnosis in Chinese patients with osteogenesis imperfecta

    Institute of Scientific and Technical Information of China (English)

    赵秀丽; 肖继芳; 汪涵; 任秀智; 高劲松; 吴易阳; 卢超霞; 张学

    2015-01-01

    目的 在成骨不全症(OI)患者中鉴定Ⅰ型胶原基因(COL1A1和COL1A2)致病突变,构建中国人OI致病基因突变谱,并在此基础上完成OI高危胎儿的产前基因诊断.方法 应用酚/氯仿法提取先证者及家系成员外周血基因组DNA,联合应用聚合酶链反应(PCR)-Sanger DNA测序和靶向高通量测序技术对200例OI先证者进行COL1A1/2编码区及外显子/内含子衔接区的DNA序列分析;采用PCR-高分辨熔解曲线(HRM)技术对先证者及其家系成员进行突变验证;通过PCR-测序对散发病例的父母样本进行突变检测,进而确定突变来源;联合应用PCR-测序和微卫星标记等位基因分析的方法进行胎儿产前基因诊断.结果 在158例先证者中,发现COL1A1/2基因致病突变125种,包含COL1A1突变74种(91例),COL1A2突变51种(67例),阳性检出率79% (158/200);发现新突变63种,包括33种COL1A1突变和30种COL1A2突变.在上述125种COL1A1/2基因突变中,13种突变分别在2例以上先证者中重复出现(其中6种突变重复出现4次以上),合计检出46次,检出率为29.11% (46/158);完成产前基因诊断74例,其中包括患儿40例,正常胎儿34例.结论 建立基于Sanger DNA测序、靶向高通量测序和PCR-高分辨熔解曲线分析技术的OI基因诊断平台.在中国人群中,构建了OI相关COL1A1/2基因致病突变谱,并在此基础上完成大样本OI患者和高危胎儿的基因诊断.%Objective To identify mutations of the type Ⅰ collagen genes (COL1A1 and COL1A2) in the affected with osteogenesis imperfecta (OI) , to establish the spectrum of COL1A1/2 mutations in Chinese OI patients, and to provide prenatal gene diagnosis to the fetuses at high risk.Methods Genomic DNA was extracted from peripheral blood by the standard SDS-proteinase K-phenol/chloroform method.All the coding regions and exon/intron boundaries of COL1A1/2 were screened in 200 OI cases by conventional Sanger sequencing and targeted next

  4. 高职院校图书馆文献利用率与馆藏建设对策探讨%To investigate the rate and the col ection construction of Library Document Utilization Countermeasures in Higher Vocational Col eges

    Institute of Scientific and Technical Information of China (English)

    林锦钊

    2014-01-01

    This article to study the main factors affecting the lower rate ofLibrary of higher vocational col ege library use, the col ection resource structure, talents cultivation model of higher vocational schools, the school learning atmosphere for the utilization of the books of negative effects are analyzed, put forward the higher vocational col ege library col ection construction strategy adjust to these influence factors, emphasizing the col ection "useful" and"application", to retain and attract readers, improve the utilization ratio of the library of target.%文章探讨影响高职院校图书馆图书文献利用率较低的主要原因,对馆藏资源结构、高职院校人才培养模式、学校学习氛围对图书利用率的负面影响作了分析,针对这些影响因素提出高职院校图书馆调整馆藏建设策略,强调藏书的"有用"和"适用",达到留住和吸引读者,提高图书馆利用率的目标。

  5. Reaching Higher. A Parent's Guide to the Washington Assessment of Learning. Revised = Para llegar mas arriba. Una guia para padres sobre la evaluacion del aprendizaje de los estudiantes del estado de Washington (Washington Assessment of Student Learning). Revisado.

    Science.gov (United States)

    Washington Office of the State Superintendent of Public Instruction, Olympia.

    This guide in English and Spanish is designed to answer questions parents may have about the Washington Assessment of Student Learning (WASL), including how it will help improve their children's education, how it is scored, and how to use the information it provides. In Washington, clear educational goals for subject content, thinking skills, and…

  6. Wind Powering America State Outreach. Final Technical Report: Washington State

    Energy Technology Data Exchange (ETDEWEB)

    Stearns, Tim

    2013-09-30

    The Washington Department of Commerce, via a U.S. Department of Energy grant, supported research into siting and permitting processes for wind projects by Skagit County, Washington. The goal was to help a local government understand key issues, consider how other areas have addressed wind siting, and establish a basis for enacting permitting and zoning ordinances that provided a more predictable permitting path and process for landowners, citizens, government and developers of small and community wind projects. The County?s contractor developed a report that looked at various approaches to wind siting, interviewed stakeholders, and examined technology options. The contractor outlined key issues and recommended the adoption of a siting process. The Skagit County Commission considered the report and directed the Skagit County Planning & Development Services Department to add development of wind guidelines to its work plan for potential changes to development codes.

  7. Financing residential energy conservation in the state of Washington

    Energy Technology Data Exchange (ETDEWEB)

    Mack, R.S.; Fairburn, W.A.

    1978-12-01

    The Washington Energy Extension Service Finance Program was commissioned for the overall purpose of facilitating and assessing the development of energy-related loan policies by financial institutions. Explicit objectives of the project are to: identify financial problems of small energy consumers in the domestic installation of energy-saving technologies; identify the financial options currently available in the State of Washington; and in concert with the financial institutions of the state, develop and analyze recommended additional programs which will benefit both consumers and financial institutions. This final report of the WEES Finance Program extends the rate-of-return analysis to include the overall required rates of return necessary to justify various commercial bank functional activities; with judicious implementation, this methodology can be a substitute for the subjective risk-assessment techniques currently utilized in the commercial banking sector. This report also considers changes that have occurred in the development of financial options related to energy-conservation measures.

  8. El Consenso de Washington: aciertos, yerros y omisiones

    Directory of Open Access Journals (Sweden)

    Juan Carlos Moreno-Brid

    2004-12-01

    Full Text Available This paper analyses the economic and social development of Latin America after nearly two decades of macroeconomic policies and reforms in line with the “Washington Consensus”. It shows that these policies did lower inflation and induced an export boom, but failed to boost domestic investment and to remove the balance of payments binding constraint on the region’s long–term path of economic expansion. Four alternative explanations of such poor performance of the Washington Consensus are compared. It is argued, in particular, that, contrary to mainstream opinion, in Latin America there is no clear association between the depth of macroeconomic reforms and economic growth performance.

  9. Routine environmental audit of the Hanford Site, Richland, Washington

    Energy Technology Data Exchange (ETDEWEB)

    1994-05-01

    This report documents the results of the routine environmental audit of the Hanford Site (Hanford), Richland, Washington. During this audit, the activities conducted by the audit team included reviews of internal documents an reports from previous audits and assessments; interviews with US Department of Energy (DOE), State of Washington regulatory, and contractor personnel; and inspections and observations of selected facilities and operations. The onsite portion of the audit was conducted May 2--13, 1994, by the DOE Office of Environmental Audit (EH-24), located within the Office of Environment, Safety and Health (EH). The audit evaluated the status of programs to ensure compliance with Federal, State, and local environmental laws and regulations; compliance with DOE orders, guidance, and directives; and conformance with accepted industry practices and standards of performance. The audit also evaluated the status and adequacy of the management systems developed to address environmental requirements.

  10. Comparing Measures of Late HIV Diagnosis in Washington State

    OpenAIRE

    Laura Saganic; Jason Carr; Rosa Solorio; Maria Courogen; Tom Jaenicke; Ann Duerr

    2011-01-01

    As more US HIV surveillance programs routinely use late HIV diagnosis to monitor and characterize HIV testing patterns, there is an increasing need to standardize how late HIV diagnosis is measured. In this study, we compared two measures of late HIV diagnosis, one based on time between HIV and AIDS, the other based on initial CD4+ results. Using data from Washington's HIV/AIDS Reporting System, we used multivariate logistic regression to identify predictors of late HIV diagnosis. We also con...

  11. Groundwater levels for selected wells in Upper Kittitas County, Washington

    Science.gov (United States)

    Fasser, E.T.; Julich, R.J.

    2011-01-01

    Groundwater levels for selected wells in Upper Kittitas County, Washington, are presented on an interactive, web-based map to document the spatial distribution of groundwater levels in the study area measured during spring 2011. Groundwater-level data and well information were collected by the U.S. Geological Survey using standard techniques and are stored in the U.S. Geological Survey National Water Information System, Groundwater Site-Inventory database.

  12. Annual scientific meeting--American Headache Society Washington 2011--highlights.

    Science.gov (United States)

    Purdy, R Allan

    2012-05-01

    The 53rd Annual Scientific Meeting of the American Headache Society was held in Washington from June 2 to 5, 2011. Important clinical and basic science information was presented at this meeting. This is a review of the highlights of that meeting dealing in many areas of headache medicine. Once again, this meeting, which is the premier scientific meeting of the American Headache Society, provided lots of new and exciting information about multiple facets of migraine headache and other disorders.

  13. Terrestrial organic carbon contributions to sediments on the Washington margin

    Energy Technology Data Exchange (ETDEWEB)

    Prahl, F.G.; Sparrow, M.A.; Eversmeyer, B. (Oregon State Univ., Corvallis, OR (United States)); Ertel, J.R. (Univ. of Georgia, Athens, GA (United States)); Goni, M.A. (Woods Hole Oceanographic Institution, MA (United States))

    1994-07-01

    Elemental and stable carbon isotopic compositions and biomarker concentrations were determined in sediments from the Columbia River basin and the Washington margin in order to evaluate geochemical approaches for quantifying terrestrial organic matter in marine sediments. The biomarkers include: an homologous series of long-chain n-alkanes derived from the surface waxes of higher plants; phenolic and hydroxyalkanoic compounds produced by CuO oxidation of two major vascular plant biopolymers, lignin and cutin. All marine sediments, including samples collected from the most remote sites in Cascadia Basin, showed organic geochemical evidence for the presence of terrestrial organic carbon. Using endmember values for the various biomarkers determined empirically by two independent means, the authors estimate that the terrestrial contribution to the Washington margin is [approximately] 60% for shelf sediments, [approximately] 30% for slope sediments, and decreases further to [le] 15% in basin sediments. Results from the same geochemical measurements made with depth in gravity core 6705-7 from Cascadia Seachannel suggest that this approach to assess terrestrial organic carbon contributions to contemporary deposits on the Washington margin can be applied to the study of sediments depositing in this region since the last glacial period.

  14. Two novel mutations on exon 8 and intron 65 of COL7A1 gene in two Chinese brothers result in recessive dystrophic epidermolysis bullosa.

    Directory of Open Access Journals (Sweden)

    Ying Lin

    Full Text Available Dystrophic epidermolysis bullosa is an inherited bullous dermatosis caused by the COL7A1 gene mutation in autosomal dominant or recessive mode. COL7A1 gene encodes type VII collagen - the main component of the anchoring fibrils at the dermal-epidermal junction. Besides the 730 mutations reported, we identified two novel COL7A1 gene mutations in a Chinese family, which caused recessive dystrophic epidermolysis bullosa (RDEB. The diagnosis was established histopathologically and ultrastructurally. After genomic DNA extraction from the peripheral blood sample of all subjects (5 pedigree members and 136 unrelated control individuals, COL7A1 gene screening was performed by polymerase chain reaction amplification and direct DNA sequencing of the whole coding exons and flanking intronic regions. Genetic analysis of the COL7A1 gene in affected individuals revealed compound heterozygotes with identical novel mutations. The maternal mutation is a 2-bp deletion at exon 8 (c.1006_1007delCA, leading to a subsequent reading frame-shift and producing a premature termination codon located 48 amino acids downstream in exon 9 (p.Q336EfsX48, consequently resulting in the truncation of 2561 amino acids downstream. This was only present in two affected brothers, but not in the other unaffected family members. The paternal mutation is a 1-bp deletion occurring at the first base of intron 65 (c.IVS5568+1delG that deductively changes the strongly conserved GT dinucleotide at the 5' donor splice site, results in subsequent reading-through into intron 65, and creates a stop codon immediately following the amino acids encoded by exon 65 (GTAA→TAA. This is predicted to produce a truncated protein lacking of 1089 C-terminal amino acids downstream. The latter mutation was found in all family members except one of the two unaffected sisters. Both mutations were observed concurrently only in the two affected brothers. Neither mutation was discovered in 136 unrelated Chinese

  15. COL5A1: Genetic mapping and exclusion as candidate gene in families with nail-patella syndrome, tuberous sclerosis 1, hereditary hemorrhagic telangiectasia, and Ehlers-Danlos syndrome type II

    Energy Technology Data Exchange (ETDEWEB)

    Greenspan, D.S. [Univ. of Wisconsin Medical School, Madison, WI (United States); Northrup, H.; Au, K.S. [Univ. of Texas Medical School, Houston, TX (United States)] [and others

    1995-02-10

    COL5A1, the gene for the {alpha}1 chain of type V collagen, has been considered a candidate gene for certain diseases based on chromosomal location and/or disease phenotype. We have employed 3{prime}-untranslated region RFLPs to exclude COL5A1 as a candidate gene in families with tuberous sclerosis 1, Ehlers-Danlos syndrome type H, and nail-patella syndrome. In addition, we describe a polymorphic simple sequence repeat (SSR) within a COL5A1 intron. This SSR is used to exclude COL5A1 as a candidate gene in hereditary hemorrhagic telangiectasia (Osler-Rendu-Weber disease) and to add COL5A1 to the existing map of {open_quotes}index{close_quotes} markers of chromosome 9 by evaluation of the COL5A1 locus on the CEPH 40-family reference pedigree set. This genetic mapping places COL5A1 between markers D9S66 and D9S67. 14 refs., 1 fig., 2 tabs.

  16. The Cemetery, the State and the Exiles: A Study of Cementerio Colón, Havana, and Woodlawn Cemetery, Miami

    Directory of Open Access Journals (Sweden)

    Marivic Wyndham

    2010-12-01

    Full Text Available One of the unsuspected costs of exile is the inability to care for the family tombs for which, especially in Latin American countries, one may feel a sharp personal responsibility. The desecration of such tombs renders the pain of exile sharper still. We examine the ways in which the Cuban State has abandoned responsibility for the care of the tombs of the exiles in the island’s largest cemetery, Cementerio Cristóbal Colón in Havana. Many exiles hope and plan to return to resume life in their former birthland. Perhaps to show their intentions, their cemeteries in the new countries are piecemeal and temporary. Little by little it becomes apparent that their state of exile has passed from medium term to long term to permanence. In Woodlawn Cemetery, Miami, some of the exiles’ dead remain in unworthy graves while the inscriptions on their tombs remind their descendants of the promise of permanent return which they never now will keep.

  17. Effect of extracts of plants with insecticidal activity on the control of Microtheca ochroloma Stal (Col: Chrysomelidae in the laboratory

    Directory of Open Access Journals (Sweden)

    Cíntia Grendene Lima

    2008-03-01

    Full Text Available Extracts of plants with insecticidal activity were tested on the control of Microtheca ochroloma (Col.: Chrysomelidae, an important insect-pest of Brassicaceae, in the larval and adult phases. Two 3-day-old larvae, kept under laboratory conditions (25ºC temperature, 70% relative humidity and 14 hours of photophase, were placed in a glass tube with a leaf of Chinese cabbage (Brassica chinensis previously treated with aqueous extracts (10% p/v of chinaberry leaf (Melia azedarach, chinaberry branch, and tobacco powder (Nicotiana tabacum. The same procedure was repeated in two assays with adult insects. In the first assay, all the previously-mentioned extracts were used, in addition to DalNeem (commercial product of Azadirachta indica. In the second, the insects were exposed to extracts of tabasco pepper fruits (Capsicum frutescens, Surinam cherry (Eugenia unifl ora, jambolan (Syzygium cuminii and eucalyptus leaves (Eucalyptus sp.. All the tests consisted of 10 insects per treatment, with five repetitions in the first test using adult insects and six repetitions in the others. Observations were made daily up to the fifth day, aiming to evaluate the mortality of the insects. All the tested extracts resulted in an effective control of the larvae of M. ochroloma. In relation to the adult insects, only the extracts of tobacco powder and DalNeem showed effective control.

  18. Consumo alimentar de adolescentes matriculados em um colégio particular de Teresina, Piauí, Brasil

    Directory of Open Access Journals (Sweden)

    CARVALHO Cecilia Maria Resende Gonçalves de

    2001-01-01

    Full Text Available Com o objetivo de estudar o consumo alimentar de adolescentes matriculados em um colégio particular de Teresina, realizou-se estudo transversal através de amostragem sistemática. A freqüência de consumo de alimentos expressa em dias por semana foi obtida mediante questionário administrado individualmente ao aluno. O estado nutricional foi avaliado pelo Índice de Massa Corporal, considerando com sobrepeso valores > ou = P85. Os resultados indicam prevalência elevada de risco para o sobrepeso (19,8% nos 334 adolescentes. Os meninos consumiram com maior freqüência alimentos energéticos (milho, manteiga, pizza, lasanha, sucos industrializados, refrigerantes e construtores (frango, ovos, leguminosas em relação às meninas (p < 0,05. Os adolescentes de 10 a 13 anos consumiram com maior freqüência milho, mel, açúcar, rapadura enquanto aqueles com idade entre 17 e 19 anos consumiram mais arroz, bolos, biscoitos, rosca, balas, goma de mascar, refrigerantes, frutas verde-amarelo.

  19. A CONSTANS-like transcriptional activator, OsCOL13, functions as a negative regulator of flowering downstream of OsphyB and upstream of Ehd1 in rice.

    Science.gov (United States)

    Sheng, Peike; Wu, Fuqing; Tan, Junjie; Zhang, Huan; Ma, Weiwei; Chen, Liping; Wang, Jiachang; Wang, Jie; Zhu, Shanshan; Guo, Xiuping; Wang, Jiulin; Zhang, Xin; Cheng, Zhijun; Bao, Yiqun; Wu, Chuanyin; Liu, Xuanming; Wan, Jianmin

    2016-09-01

    Flowering time determines the adaptability of crop plants to different local environments, thus being one of the most important agronomic traits targeted in breeding programs. Photoperiod is one of the key factors that control flowering in plant. A number of genes that participate in the photoperiod pathway have been characterized in long-day plants such as Arabidopsis, as well as in short-day plants such as Oryza sativa. Of those, CONSTANS (CO) as a floral integrator promotes flowering in Arabidopsis under long day conditions. In rice, Heading date1 (Hd1), a homologue of CO, functions in an opposite way, which inhibits flowering under long day conditions and induces flowering under short day conditions. Here, we show that another CONSTANS-like (COL) gene, OsCOL13, negatively regulates flowering in rice under both long and short day conditions. Overexpression of OsCOL13 delays flowering regardless of day length. We also demonstrated that OsCOL13 has a constitutive and rhythmic expression pattern, and that OsCOL13 is localized to the nucleus. OsCOL13 displays transcriptional activation activity in the yeast assays and likely forms homodimers in vivo. OsCOL13 suppresses the florigen genes Hd3a and RFT1 by repressing Ehd1, but has no relationship with other known Ehd1 regulators as determined by using mutants or near isogenic lines. In addition, the transcriptional level of OsCOL13 significantly decreased in the osphyb mutant, but remained unchanged in the osphya and osphyc mutants. Thus, we conclude that OsCOL13 functions as a negative regulator downstream of OsphyB and upstream of Ehd1 in the photoperiodic flowering in rice.

  20. Mutation analysis and prenatal diagnosis of COL1A1 gene in a Chinese family with type Ⅰ osteogenesis imperfecta%一个Ⅰ型成骨不全家系COL1A1基因的剪切位点新突变及产前诊断

    Institute of Scientific and Technical Information of China (English)

    张卉; 吴东; 侯巧芳; 刘治佑; 秦利涛; 廖世秀

    2014-01-01

    Objective To detect mutation of COL1A1 gene in a Chinese family affected with type Ⅰ osteogenesis imperfecta (OI) and to provide prenatal diagnosis for a fetus at 17th gestational week.Methods Polymerase chain reaction,DNA sequencing and restriction endonuclease analysis were used to verify the detected mutation among other members of the family and 100 healthy controls.Results No mutation has been detected in the COL1A2 gene in all of the subjects.A heterozygous mutation c.104-1G>C was identified in the COL1A1 gene among all patients from this family.The same mutation was not found in other members from the family and the 100 healthy controls.The mutation was not found in the fetus,and was verified to be a new mutation according to the type Ⅰ collagen mutation database.Conclusion The c.104-1G>C mutation of the COL1A1 gene probably underlies the type Ⅰ osteogenesis imperfecta in this family.Under the premise of a clear genetic diagnosis,prenatal diagnosis may be provided to reduce the risk for the disease.%目的 确定1个汉族成骨不全家系COL1 A1基因的突变情况,为家系胎儿提供产前诊断.方法 应用测序方法对家系成员及100名正常对照者的COL1A1和COL1A2基因进行突变检测.结果 基因测序结果显示先证者及家系中7例存活患者的COL1A1基因的剪接位点存在c.104-1G>C突变,但是在正常家系成员以及100名无亲缘关系的正常对照中均未检测到该突变.经查询Ⅰ型胶原突变数据库该突变为未报道过的新突变.该家系所有成员COL1A2基因未检测到突变.胎儿的COL1A1基因测序结果正常,随访时的基因突变检测结果与产前诊断结果一致.结论 COL1A1基因c.104-1G>C突变是该家系的致病原因,在明确致病突变基因的前提下可对家系胎儿进行产前诊断,以避免成骨不全患儿的出生.

  1. Identification of Mycobacterium bovis Isolates by a multiplex PCR Identificação de colônias isoladas de Mycobacterium bovis por PCR múltipla

    Directory of Open Access Journals (Sweden)

    Eduardo Eustáquio de Souza Figueiredo

    2009-06-01

    Full Text Available Isolates from suggestive bovine tuberculosis lesions were tested by a multiplex polymerase chain reaction (m-PCR targeting for RvD1Rv2031c and IS6110 sequences, specific for M. bovis and Mycobacterium tuberculosis complex respectively. The m-PCR successfully identified as M. bovis 88.24% of the isolates.Colônias isoladas a partir de lesões sugestivas de tuberculose bovina foram testadas pela reação múltipla em cadeia da polimerase, usando oligonucleotídeos direcionados para as seqüências genômicas RvD1Rv2031c e IS6110, específicas para M. bovis e para o complexo Mycobacterium tuberculosis, respectivamente. A m-PCR identificou, com sucesso, 88,24% das colônias isoladas como M. bovis.

  2. Dos casos de arquitectura hotelera en el Ecuador: entre los años 50 y 70, Hotel Colón y Hotel Quito

    OpenAIRE

    Guerra Galán, Jaime Augusto

    2007-01-01

    La aceptación, desarrollo y consolidación que la modernidad tuvo en el Ecuador, motivó a reflexionar sobre la arquitectura realizada en el campo hotelero en el país entre los años cincuenta y setenta, con énfasis en la suscitada en la ciudad de Quito. Dos hoteles, el Quito y el Colón, son ejemplos de como la modernidad despuntaba en la ciudad. El proyecto de investigación se lo ha dividido en tres partes: Introducción, Hotel Colón y Hotel Quito. Introducción: Contiene un breve recuento de las...

  3. Ehlers-Danlos syndrome type IV: unusual congenital anomalies in a mother and son with a COL3A1 mutation and a normal collagen III protein profile.

    Science.gov (United States)

    Kroes, H Y; Pals, G; van Essen, A J

    2003-03-01

    A mother and son with Ehlers-Danlos syndrome (EDS) type IV and unusual congenital anomalies are described. The congenital anomalies include, in the mother, amniotic band-like constrictions on one hand, a unilateral clubfoot, and macrocephaly owing to normal-pressure hydrocephaly and, in the son, an esophageal atresia and hydrocephaly. Protein analysis of collagen III in cultured fibroblasts of the mother showed no abnormalities. However, DNA analysis of the COL3A1 gene revealed a pathogenic mutation (388G-->T) in both the mother and the son. The possible relationship between the observed congenital anomalies and EDS IV are discussed. We stress that DNA analysis of COL3A1 should be performed in all patients when there is a strong suspicion of EDS IV, despite negative findings in a collagen protein analysis. Copyright Blackwell Munksgaard, 2003

  4. Bilateral consecutive rupture of the quadriceps tendon in a man with BstUI polymorphism of the COL5A1 gene.

    Science.gov (United States)

    Longo, Umile Giuseppe; Fazio, Vito; Poeta, Maria Luana; Rabitti, Carla; Franceschi, Francesco; Maffulli, Nicola; Denaro, Vincenzo

    2010-04-01

    A genetic component has been implicated in tendinopathies involving tendon rupture. Type V collagen, a quantitatively minor fibrillar collagen which forms heterotypic fibrils with type I collagen, plays a role in the regulation of the size and configuration of fibrils of the much more abundant component type I collagen. To date, no data on the genetic component of bilateral rupture of the quadriceps tendon have been reported. We describe the presence of BstUI polymorphism of the COL5A1 gene in a man with bilateral rupture of the quadriceps tendon. The COL5A1 (the variant rs12722, BstUI RFLP) can be a candidate gene associated with the development of bilateral quadriceps tendon rupture.

  5. Resíduos de processamento do pintado (Pseudoplatystoma corruscans) como fonte de protease ácida e colágeno

    OpenAIRE

    ANDRADE, Douglas Henrique de Holanda

    2015-01-01

    A presente tese reporta a purificação parcial e caracterização enzimática de uma protease ácida proveniente do estômago do Pseudoplatystoma corruscans, bem como o aproveitamento de resíduos deste peixe para aplicação na extração de colágeno. Neste âmbito, o primeiro capítulo tratou da caracterização enzimática de uma protease ácida do estômago do pintado e aplicação desta enzima na extração de colágeno da pele de Oreochromis niloticus. A caracterização com substratos e inibidores específicos ...

  6. Entorns d'ensenyament/aprenentatge virtual en la docència universitària :l'aprenentatge col·laboratiu mediat per ordinador

    OpenAIRE

    Verdú Surroca, Noemí

    2009-01-01

    El present treball de recerca es centra en l'estudi de l'aprenentatge col·laboratiu mediat per ordinadoren entorns d'ensenyament i aprenentatge virtuals i en l'àmbit de la docència universitària. Es descriui s'analitza l'ús que fa el professorat d'entorns virtuals d'ensenyament/aprenentatge (E/A) decaràcter general. Així mateix, s'exploren les possibilitats de noves formes d'ensenyar i aprendre através de l'ús d'entorns d'E/A dissenyats específicament per afavorir l'aprenentatge col·laboratiu...

  7. Preparación, caracterización y aplicación como plataformas bioactivas de materiales compuestos formados por politiofeno y colágeno

    OpenAIRE

    Illera Bautista, Cristina

    2014-01-01

    El objetivo del trabajo es preparar mezclas compuestas por una proteína, en este caso colágeno tipo I, y un polímero conductor, poli[2,2’-(3-metil-acetato)tiofeno] (P3TMA), un derivado soluble de politiofeno. Para ello se ensayan diferentes metodologías para la preparación de las películas, tales como drop-casting y spin-coating. La proporción de proteína en las mezclas de colágeno/P3TMA es baja, variando entre el 5% y el 0,5% dependiendo de la técnica de preparación empleada, debido a la...

  8. Pertinence du dépistage du cancer du col de l'utérus au sein d'un établissement de santé

    OpenAIRE

    Chignier, Pauline

    2014-01-01

    Le dépistage du cancer du col de l'utérus est un enjeu de Santé Publique. Le plan cancer 2014-2019 souligne l'importance de réduire les inégalités face au dépistage et de couvrir 80% de la population cible. L'objectif principal de l'étude était d'évaluer la conformité des pratiques cliniques des professionnels de santé aux recommandations de la HAS. L'objectif secondaire était d'évaluer la qualité du dépistage du cancer du col selon le type de suivi : gynécologique versus obstétrical. Il s'ag...

  9. Influence of PLLA/Col-Ⅰ nanofibers on growth of human tendon-derived fibroblast and the gene expression%纳米纤维支架对人肌腱成纤维细胞的生长及相关基因表达的影响

    Institute of Scientific and Technical Information of China (English)

    王威; 廖苏平; 危蕾; 吴波; 刘俊

    2015-01-01

    目的 研究人肌腱成纤维细胞(tendon derived fibroblasts,TDFs)在聚乳酸(poly-L-lactic acid,PLLA)纳米纤维支架及聚乳酸/Ⅰ型胶原蛋白(PLLA/Col-Ⅰ)纳米纤维支架上的生长情况及相关基因的表达情况.方法 将TDFs分别种植于空白盖玻片(空白组)、载有PLLA纳米纤维支架的盖玻片(PLLA组)和载有PLLA/Col-Ⅰ纳米纤维支架的盖玻片上(PLLA/Col-Ⅰ组),观察细胞生长情况,并检测Ⅰ、Ⅲ、Ⅹ型胶原蛋白(Col-Ⅰ、Col-Ⅲ、Col-Ⅹ)以及整合素相关基因黏着斑激酶(focal adhesion kinase,FAK)的基因表达情况.结果 PLLA组细胞生长速度低于空白组和PLLA/Col-Ⅰ组,而PLLA/Col-Ⅰ组和空白组相比,细胞生长速度差异无统计学意义.和PLLA组及空白组相比,PLLA/Col-Ⅰ组中Col-Ⅰ、Col-Ⅲ、Col-Ⅹ以及FAK基因表达水平显著升高,PLLA组和空白组无明显区别.结论 PLLA/Col-Ⅰ纳米纤维支架对TDFs的生长有促进作用,且有利于CobⅠ、Col-Ⅲ、Col-Ⅸ及FAK基因的表达,能为肌腱修复提供一种理想的组织工程支架材料.

  10. Comportamiento in vitro del colágeno de la unión amelodentinaria en premolares humanos sometidos a altas temperaturas

    Directory of Open Access Journals (Sweden)

    Sebastián Medina

    2015-12-01

    Full Text Available Objetivo: Determinar el comportamiento in vitro del colágeno de la unión amelo-dentinaria en premolares humanos sometidos a altas temperaturas. Materiales y métodos: Estudio descriptivo pseudo-experimental in vitro de corte transversal que determinó, a través de microscopía electrónica de barrido, el comportamiento físico del colágeno de la unión amelodentinaria en 60 premolares humanos sometidos a altas temperaturas (200°C, 400°C, 600°C, 800°C y 1.000°C, para proporcionar evidencia científica que permita emplear la separación del esmalte y la dentina como un marcador fehaciente repetitivo de utilidad en los procesos de identificación odontológica y documentación de la necropsia médico-legal para el caso de cadáveres o restos humanos que resulten quemados, carbonizados o incinerados. Resultados: Se observa que el diseño micro-estructural del patrón reticular de colágeno de la dentina en relación con los cristales de hidroxiapatita resulto afectado conforme aumentaba la temperatura. Conclusiones: En conjunto, la alteración del patrón reticular del colágeno y los cambios micro-estructurales de la hidroxiapatita de calcio (fusión y sinterización de las nano-esferas de fosfato octa-cálcico de la dentina y del esmalte, explican la separación gradual y progresiva de estos dos tejidos a nivel de la unión amelo-dentinaria.

  11. Efeito da instilação correta de colírios sobre a pressão intra-ocular de pacientes com glaucoma

    Directory of Open Access Journals (Sweden)

    Vaidergorn Paulo Gelman

    2003-01-01

    Full Text Available OBJETIVO: Verificar o efeito da instilação correta de colírios hipotensores oculares no comportamento pressórico de pacientes portadores de glaucoma crônico. MÉTODOS: Estudo prospectivo realizado em 90 olhos, de 47 pacientes. Em cada participante era realizada uma minicurva pressórica antes, e outra após lhe ser explicado como proceder à instilação correta de colírios. A seguir, as médias pressóricas obtidas nas duas minicurvas eram comparadas. RESULTADOS: Houve queda significativa de 22,3% na pressão intra-ocular média de 35 (38,9% olhos. Dos restantes, 35 (38,9 % olhos exibiram pequena queda (-8,2% em sua média pressórica e, 20 (22,2 %, pequeno aumento (+8,4%, ambos não estatisticamente significantes. CONCLUSÕES: Verificou-se que parcela expressiva da população estudada conseguiu obter redução adicional em sua média pressórica por meio da instilação correta de colírios. Portanto, o ensino da técnica adequada da instilação de colírio é necessária a todos os pacientes, podendo resultar em benefício extra para os usuários de medicação hipotensora ocular.

  12. Membranas de colágeno y quitosano de fuentes alternativas: evaluación para su uso potencial en ingeniería de tejidos

    Directory of Open Access Journals (Sweden)

    Silvia E. Castro-Piedra

    2015-05-01

    Full Text Available Los polímeros naturales, como el colágeno y el quitosano, presentan características físicas, químicas y biológicas que los hacen buenos candidatos para usarlos como soportes análogos de matriz extracelular, con potenciales aplicaciones en la ingeniería de tejidos. En el presente trabajo se evaluaron membranas biopoliméricas de colágeno y quitosano de material considerado tradicionalmente de desecho en la industria pesquera, para el cultivo de fibroblastos dérmicos. Se emplearon matrices de 100% colágeno, 100% quitosano y colágeno:quitosano en proporciones 8:2, 2:8, 6:4 y 4:6, obtenidos a partir fuentes alternativas (cáscara de camarón y piel de tilapia. El principal reto para el empleo de estos materiales en aplicaciones biomédicas es su esterilización, para lo cual se evaluaron diferentes métodos, incluyendo tratamientos químicos (etanol, antibióticos y acetona y físicos (rayos X, radiación UVC. El único procedimiento que permitió la desinfección efectiva sin comprometer la integridad de los biomateriales fue la incubación con antibióticos y antimicóticos durante 48 horas. Además, se confirmó la adhesión y proliferación celular sobre las membranas. Estos resultados demostraron el potencial biomédico de estos materiales.

  13. The Christopher Columbus Project: An Enterprise of Modernity El proyecto de Cristóbal Colón: Una empresa de la modernidad

    Directory of Open Access Journals (Sweden)

    Carlos Augusto Rojas Arias

    2009-06-01

    Full Text Available The project of discovering America by Christopher Columbus is an enterprise of Modernity, understood as the modern mentality displayed in the capitalist system. Even though Columbus lived during the Renaissance period, the mentality carried in his project is closer to some modern philosophers such as Descartes and Hobbes, who from rationality and individualism constitute a change of time. The hypothesis that Columbus is a modern person is sustained with evidence in the reasons he explained to defend his project from the Spanish court and especially the final agreement, "the capitulation", in which rationality and individualism took precedence over divine or medieval considerations. The rationalist mentality of Columbus prefigures that from modern businessman who does not stitch without thimble.El descubrimiento de América, impulsado por Cristóbal Colón, es una empresa  de la Modernidad, entendida esta como la mentalidad moderna desplegada en el sistema capitalista. Si bien es cierto que Colón, por la época en que vivió, se ubica  dentro del Renacimiento, la mentalidad con que fue llevada a cabo su iniciativa está más cerca de modernos como Descartes y Hobbes, quienes, a partir de la racionalidad y el individualismo, configuran un cambio de época. La hipótesis de que Colón es un moderno se sustenta con muchas evidencias en las razones que construyó para defender su proyecto ante la corte española y especialmente en el acuerdo final, “la capitulación”, en donde la racionalidad y el individualismo priman sobre consideraciones divinas o medievales. La mentalidad racionalista de Colón prefigura la del empresario moderno que no da puntada sin dedal.  

  14. X-linked Alport syndrome: an SSCP-based mutation survey over all 51 exons of the COL4A5 gene.

    Science.gov (United States)

    Renieri, A.; Bruttini, M.; Galli, L.; Zanelli, P.; Neri, T.; Rossetti, S.; Turco, A.; Heiskari, N.; Zhou, J.; Gusmano, R.; Massella, L.; Banfi, G.; Scolari, F.; Sessa, A.; Rizzoni, G.; Tryggvason, K.; Pignatti, P. F.; Savi, M.; Ballabio, A.; De Marchi, M.

    1996-01-01

    The COL4A5 gene encodes the alpha5 (type IV) collagen chain and is defective in X-linked Alport syndrome (AS). Here, we report the first systematic analysis of all 51 exons of COL4A5 gene in a series of 201 Italian AS patients. We have previously reported nine major rearrangements, as well as 18 small mutations identified in the same patient series by SSCP analysis of several exons. After systematic analysis of all 51 exons of COL4A5, we have now identified 30 different mutations: 10 glycine substitutions in the triple helical domain of the protein, 9 frameshift mutations, 4 in-frame deletions, 1 start codon, 1 nonsense, and 5 splice-site mutations. These mutations were either unique or found in two unrelated families, thus excluding the presence of a common mutation in the coding part of the gene. Overall, mutations were detected in only 45% of individuals with a certain or likely diagnosis of X-linked AS. This finding suggests that mutations in noncoding segments of COL4A5 account for a high number of X-linked AS cases. An alternative hypothesis is the presence of locus heterogeneity, even within the X-linked form of the disease. A genotype/phenotype comparison enabled us to better substantiate a significant correlation between the degree of predicted disruption of the alpha5 chain and the severity of phenotype in affected male individuals. Our study has significant implications in the diagnosis and follow-up of AS patients. PMID:8651296

  15. Correction of Recessive Dystrophic Epidermolysis Bullosa by Transposon-Mediated Integration of COL7A1 in Transplantable Patient-Derived Primary Keratinocytes.

    Science.gov (United States)

    Latella, Maria Carmela; Cocchiarella, Fabienne; De Rosa, Laura; Turchiano, Giandomenico; Gonçalves, Manuel A F V; Larcher, Fernando; De Luca, Michele; Recchia, Alessandra

    2017-04-01

    Recessive dystrophic epidermolysis bullosa (RDEB) is caused by defects in type-VII collagen (C7), a protein encoded by the COL7A1 gene and essential for anchoring fibril formation at the dermal-epidermal junction. Gene therapy of RDEB is based on transplantation of autologous epidermal grafts generated from gene-corrected keratinocytes sustaining C7 deposition at the dermal-epidermal junction. Transfer of the COL7A1 gene is complicated by its very large size and repetitive sequence. This article reports a gene delivery approach based on the Sleeping beauty transposon, which allows integration of a full-length COL7A1 cDNA and secretion of C7 at physiological levels in RDEB keratinocytes without rearrangements or detrimental effects on their clonogenic potential. Skin equivalents derived from gene-corrected RDEB keratinocytes were tested in a validated preclinical model of xenotransplantation on immunodeficient mice, where they showed normal deposition of C7 at the dermal-epidermal junction and restoration of skin adhesion properties. These results indicate the feasibility and efficacy of a transposon-based gene therapy approach to RDEB. Copyright © 2016 The Authors. Published by Elsevier Inc. All rights reserved.

  16. Ocorrência de anticorpos anti-Neospora spp. em jumentos (Equus asinus no estado de Sucre - Colômbia

    Directory of Open Access Journals (Sweden)

    R.D. Blanco

    2014-04-01

    Full Text Available A neosporose tem grande importância em bovinos, e sua patogênese neste hospedeiro, em termos gerais, está esclarecida, porém, em equídeos é pobremente conhecida. Na Colômbia ainda não foram reportados anticorpos Anti-Neospora spp. em equídeos, sendo assim objetivou-se no presente estudo avaliar a ocorrência do parasito em jumentos (Equus asinus de fazendas que apresentavam risco da doença nestes animais. Foram utilizados 56 animais no estado de Sucre (Colômbia, escolhidos aleatoriamente dentro das fazendas selecionadas. Utilizou-se um peptídeo recombinante originado de Neospora caninum (NcGRA1 para o diagnóstico por Dot-ELISA, e o soro foi diluído em 1:200. Este estudo reporta, pela primeira vez no estado de Sucre e na Colômbia, a presença de anticorpos anti-Neospora spp. na espécie Equus asinus, com uma ocorrência de 19,7% (11/56 dos animais amostrados.

  17. Premature chain termination is a unifying mechanism for COL1A1 null alleles in osteogenesis imperfecta type I cell strains

    Energy Technology Data Exchange (ETDEWEB)

    Willing, M.C.; Deschenes, S.P.; Roberts, E.J. [Univ. of Iowa, Iowa City, IA (United States)] [and others

    1996-10-01

    Nonsense and frameshift mutations, which predict premature termination of translation, often cause a dramatic reduction in the amount of transcript from the mutant allele (nonsense-mediated mRNA decay). In some genes, these mutations also influence RNA splicing and induce skipping of the exon that contains the nonsense codon. To begin to dissect how premature termination alters the metabolism of RNA from the COL1A1 gene, we studied nonsense and frameshift mutations distributed over exons 11-49 of the gene. These mutations were originally identified in 10 unrelated families with osteogenesis imperfecta (OI) type I. We observed marked reduction in steady-state amounts of mRNA from the mutant allele in both total cellular and nuclear RNA extracts of cells from affected individuals, suggesting that nonsense-mediated decay of COL1A1 RNA is a nuclear phenomenon. Position of the mutation within the gene did not influence this observation. None of the mutations induced skipping of either the exon containing the mutation or, for the frameshifts, the downstream exons with the new termination sites. Our data suggest that nonsense and frameshift mutations throughout most of the COL1A1 gene result in a null allele, which is associated with the predictable mild clinical phenotype, OI type I. 42 refs., 6 figs., 1 tab.

  18. Mutation in a gene for type I procollagen (COL1A2) in a woman with postmenopausal osteoporosis: Evidence for phenotypic and genotypic overlap with mild osteogenesis imperfecta

    Energy Technology Data Exchange (ETDEWEB)

    Spotila, L.D.; Constantinou, C.D.; Sereda, L.; Ganguly, A.; Prockop, D.J. (Jefferson Medical College, Philadelphia, PA (United States)); Riggs, B.L. (Mayo Clinic, Rochester, MN (United States))

    1991-06-15

    Mutations in the two genes for type I collagen (COL1A1 or COL1A2) cause osteogenesis imperfecta (OI), a heritable disease characterized by moderate to extreme brittleness of bone early in life. Here, the authors show that a 52-year-old post menopausal woman with severe osteopenia and a compression fracture of a thoracic vertebra had a mutation in the gene for the {alpha}2(I) chain of type I collagen (COL1A2) similar to mutations that cause OI. cDNA was prepared from the woman's skin fibroblast RNA and assayed for the presence of a mutation by treating DNA heteroduplexes with carbodiimide. The results indicated a sequence variation in the region encoding amino acid residues 660-667 of the {alpha}2(I) chain. Further analysis demonstrated a single-base mutation that caused a serine-for-glycine substitution at position 661 of the {alpha}2(I) triple-helical domain. The substitution produced posttranslational overmodification of the collagen triple helix, as is seen with most glycine substitutions that cause OI. The patient had a history of five previous fractures, slightly blue sclerae, and slight hearing loss. Therefore, the results suggest that there may be phenotypic and genotypic overlap between mild osteogenesis imperfecta and postmenopausal osteoporosis, and that a subset of women with postmenopausal osteoporosis may have mutations in the genes for type I procollagen.

  19. Dermatofibrosarcoma Protuberans-Like Tumor With COL1A1 Copy Number Gain in the Absence of t(17;22).

    Science.gov (United States)

    Saab, Jad; Rosenthal, Ian M; Wang, Lu; Busam, Klaus J; Nehal, Kishwer S; Dickson, Mark A; Hameed, Meera R; Hollmann, Travis J

    2017-04-01

    A 57-year-old woman presented with a 3-year history of a progressive firm plaque on the right cheek. Skin biopsies revealed a bland, storiform, spindle-cell proliferation involving the deep dermis and subcutaneous fat. By immunohistochemistry, the tumor cells were diffusely positive for CD34 and caldesmon with multifocal reactivity for epithelial membrane antigen and focal, weak staining for smooth muscle actin. Retinoblastoma protein expression was not detectable in tumor cells by immunohistochemistry. An interphase fluorescence in situ hybridization analysis for platelet-derived growth factor B (PDGFB) gene rearrangement was negative. A single-nucleotide polymorphism array study detected 1) a gain of chromosome segment 17q21.33-q25.3 which overlapped the entire COL1A1 gene with a breakpoint at 17q21.33, approximately 250 Kb centromeric to the 3' end of COL1A1 gene, 2) several segmental gains on chromosome 11, and 3) an RB1 gene locus with normal copy number and allele frequency. Although the current case resembles dermatofibrosarcoma protuberans, it is unique in that it demonstrates a copy number gain of chromosome 17q in the absence of fusion of COL1A1 and PDGFB genes and an unusual immunohistochemical staining profile. The morphologic and molecular findings suggest a novel molecular variant of dermatofibrosarcoma protuberans not detectable with standard fluorescence in situ hybridization for PDGFB rearrangement. This variant appears to respond to imatinib after 9 months of follow-up.

  20. A familial case of achondrogenesis type II caused by a dominant COL2A1 mutation and "patchy" expression in the mosaic father.

    Science.gov (United States)

    Forzano, F; Lituania, M; Viassolo, A; Superti-Furga, V; Wildhardt, G; Zabel, B; Faravelli, F

    2007-12-01

    Achondrogenesis type II (ACG2) is the most severe disorder that can be produced by dominant mutations in COL2A1. We report on four pregnancies of an apparently healthy, nonconsanguineous young couple. The father had scoliosis as a child, and has slight body disproportion with short trunk. The first child was born at 32 weeks and died neonatally. In the second pregnancy, short limbs and fetal hygroma were noted on ultrasound at 17 weeks' gestation. Similar findings were observed in the third fetus. Clinical, radiological, and histological evaluation of the fetuses after termination of the pregnancies showed findings consistent with ACG2. Molecular analysis of genomic DNA extracted from amniotic cells of the second and third fetuses revealed heterozygosity for a 10370G > T missense mutation (G346V) in the COL2A1 gene. This mutation was also found in the father, as a mosaic. The couple had a fourth pregnancy, and at 11 weeks fetal hydrops with a septated cystic hygroma were obvious. DNA from CVS demonstrated the same COL2A1 mutation.

  1. Atrophic dermatofibrosarcoma protuberans with the fusion gene COL1A1-PDGFB detected by RT-PCR using only a single primer pair.

    Science.gov (United States)

    Xu, Wen-Jun; Wang, Ju-Sheng

    2015-01-01

    Dermatofibrosarcoma protuberans (DFSPs) is an uncommon dermal tumor of intermediate to low-grade malignancy. A few patients have clinically persistent plaques that might be atrophic, and they are difficult to be diagnosed clinically. With the development of cytogenetic and molecular biology techniques, the detection of fusion transcripts of the collagen type 1a1 (COL1A1) and platelet-derived growth factor-BB (PDGFB) genes has been recognized as a reliable and valuable molecular tool for the diagnosis of DFSPs. We reported a 24-year-old woman who had a 2 years history of atrophic DFSPs, and detected the gene fusion between COL1A1 to PDGFB by one-step method of RT-PCR using only a single primer pair. The gene fusion detected by this rapid and efficient one-step method in our patient appears to be the first report of atrophic DFSPs, and we detected a novel COL1A1 breakpoint between exon 2 and exon 3.

  2. 1990 Washington State directory of biomass energy facilities

    Energy Technology Data Exchange (ETDEWEB)

    Deshaye, J.A.; Kerstetter, J.D.

    1990-12-31

    This second edition is an update of biomass energy production and use in Washington State for 1989. The purpose of this directory is to provide a listing of known biomass users within the state and some basic information about their facilities. The data can be helpful to persons or organizations considering the use of biomass fuels. The directory is divided into three sections of biomass facilities with each section containing a map of locations and a data summary table. In addition, a conversion table, a glossary and an index are provided in the back of the directory. The first section deals with biogas production from wastewater treatment plants. The second section provides information on the wood combustion facilities in the state. This section is subdivided into two categories. The first is for facilities connected with the forest products industries. The second category include other facilities using wood for energy. The third section is composed of three different types of biomass facilities -- ethanol, municipal solid waste, and solid fuel processing. Biomass facilities included in this directory produce over 64 trillion Btu (British thermal units) per year. Wood combustion facilities account for 91 percent of the total. Biogas and ethanol facilities each produce close to 800 billion Btu per year, MSW facilities produce 1845 billion BTU, and solid fuel processing facilities produce 2321 billion Btu per year. To put these numbers in perspective, Washington`s industrial section uses 200 trillion Btu of fuels per year. Therefore, biomass fuels used and/or produced by facilities listed in this directory account for nearly 32 percent of the state`s total industrial fuel demand. This is a sizable contribution to the state`s energy needs.

  3. Organics Verification Study for Sinclair and Dyes Inlets, Washington

    Energy Technology Data Exchange (ETDEWEB)

    Kohn, Nancy P.; Brandenberger, Jill M.; Niewolny, Laurie A.; Johnston, Robert K.

    2006-09-28

    Sinclair and Dyes Inlets near Bremerton, Washington, are on the State of Washington 1998 303(d) list of impaired waters because of fecal coliform contamination in marine water, metals in sediment and fish tissue, and organics in sediment and fish tissue. Because significant cleanup and source control activities have been conducted in the inlets since the data supporting the 1998 303(d) listings were collected, two verification studies were performed to address the 303(d) segments that were listed for metal and organic contaminants in marine sediment. The Metals Verification Study (MVS) was conducted in 2003; the final report, Metals Verification Study for Sinclair and Dyes Inlets, Washington, was published in March 2004 (Kohn et al. 2004). This report describes the Organics Verification Study that was conducted in 2005. The study approach was similar to the MVS in that many surface sediment samples were screened for the major classes of organic contaminants, and then the screening results and other available data were used to select a subset of samples for quantitative chemical analysis. Because the MVS was designed to obtain representative data on concentrations of contaminants in surface sediment throughout Sinclair Inlet, Dyes Inlet, Port Orchard Passage, and Rich Passage, aliquots of the 160 MVS sediment samples were used in the analysis for the Organics Verification Study. However, unlike metals screening methods, organics screening methods are not specific to individual organic compounds, and are not available for some target organics. Therefore, only the quantitative analytical results were used in the organics verification evaluation. The results of the Organics Verification Study showed that sediment quality outside of Sinclair Inlet is unlikely to be impaired because of organic contaminants. Similar to the results for metals, in Sinclair Inlet, the distribution of residual organic contaminants is generally limited to nearshore areas already within the

  4. Uncovering Multiple Populations in Globular Clusters with Washington Photometry

    Science.gov (United States)

    Geisler, Douglas; Cummings, Jeff; Villanova, Sandro; Carraro, Giovanni

    2015-01-01

    Globular Clusters (GCs), long considered as ideal Simple Stellar Populations, are now known to harbor a wide variety of chemical inhomogeneities. Multiple populations (MP) are being found in a growing number of Galactic globular clusters (GCs) via both photometric and spectroscopic techniques. Indeed, it has been suggested that a GC is an object that possesses MP. A definitive investigation of MP in GCs will undoubtedly provide a profound improvement in our understanding of their formation and evolution.However, most studies employ either high resolution VLT spectroscopy, HST photometry or inefficient filters from the ground. A ground-based photometric system which is both efficient and effective would be especially excellent for uncovering MP. We demonstrate that the Washington system meets these goals. The Washington C filter, in addition to being specifically designed for the purpose of detecting MPs, is both much broader and redder than competing UV filters, making it far more efficient at detecting MPs and much less sensitive to reddening and extinction.Our analysis of the well-studied GC NGC 1851 shows indeed that the C filter is both very efficient and effective at detecting its previously discovered MPs in the RGB and SGB, using relatively little telescope time on only a 1-meter telescope. Remarkably, we have also detected an intrinsically broad MS best characterized by two distinct but heavily overlapping populations that cannot be explained by binaries, field stars, or photometric errors. Detailed analysis shows that the MS distribution is in very good agreement with that seen on the RGB. This is the first time MPs in a MS have been discovered from the ground, and just as strikingly, using only a 1-meter telescope. The Washington system thus proves to be a very powerful tool for investigating MPs, and holds particular promise for extragalactic objects where photons are limited.

  5. Inventory of Glaciers in the North Cascades, Washington

    Science.gov (United States)

    Post, Austin; Richardson, Don; Tangborn, Wendell V.; Rosselot, F.L.

    1971-01-01

    Perennial bodies of ice in the North Cascades having areas of at least 0.1 km2 (square kilometer) are tabulated and classified. The inventory, a contribution to the International Hydrological Decade, includes 756 glaciers, covering 267 km2, about half of the glacier area in the United States south of Alaska. Listings include each glacier's location, drainage basin, area, length, orientation, altitude, and classification as to form, source, surface, nature of terminus, and activity. These glaciers contribute annually about 800 million cubic meters of water to streamflow in the State of Washington.

  6. Addressing confusion in double star nomenclature: the Washington multiplicity catalog

    Directory of Open Access Journals (Sweden)

    William I. Hartkopf

    2004-01-01

    Full Text Available Los avances en la instrumentaci on y la reducci on de datos est an borrando las diferencias hist oricas entre los diversos tipos de estrellas dobles. Un resultado de ello es la creciente confusi on en la nomenclatura, puesto que las convenciones de los distintos observadores son a veces incompatibles. Se presenta el Washington Multiplicity Catalog como una contribuci on al desarrollo de un esquema unico de nomenclatura para todos los tipos de estrellas dobles, y tambi en como una base de datos amplia para toda la informaci on relevante a la duplicidad estelar.

  7. Chernobyl radioactivity in surface air over Washington D. C

    Energy Technology Data Exchange (ETDEWEB)

    Faller, S.H.; Kuroda, P.K. (Environmental Protection Agency, Las Vegas, NV (USA). Environmental Monitoring Systems Lab.); Krask, D.J. (District of Columbia Dept. of Consumer, and Regulatory Affairs, Washington, DC (USA). Air Monitoring Section)

    1991-01-01

    Concentrations of Chernobyl-derived radionuclides in airborne particulate matter over Washington D.C. have been determined by gamma-ray analysis of air filter samples collected during the months of May, June, and July 1986. The results indicate that long-lived nuclides were present in levels comparable to those measured previously at other eastern locations. Extensive washout of radioactivity occurred apparently as a result of heavy rainfall on May 20, and was followed by the arrival of airborne debris with elevated {sup 103}Ru/{sup 137}Cs and {sup 106}Ru/{sup 137}Cs activity ratios. (orig.).

  8. Internal Washington power game adds to earmark controversy

    Science.gov (United States)

    Wakefield, J.

    In the ongoing controversy over congressional earmarks, some new bones of contention have surfaced. Late last month, the House Science, Space, and Technology Committee heard testimony that the dynamics of Washington's so-called “iron triangle” are adding to the inequities that many claim are caused by the earmarking of funds for scientific research.Nonetheless, earmarking remains a legitimate part of the appropriations game, and a practice that many still champion. At the hearing, the president of Boston University, John R. Silber, lauded the “excellence” of projects funded by earmarks.

  9. Landslides and engineering geology of the Seattle, Washington, area

    Science.gov (United States)

    Baum, Rex L.; Godt, Jonathan W.; Highland, Lynn M.

    2008-01-01

    This volume brings together case studies and summary papers describing the application of state-of-the-art engineering geologic methods to landslide hazard analysis for the Seattle, Washington, area. An introductory chapter provides a thorough description of the Quaternary and bedrock geology of Seattle. Nine additional chapters review the history of landslide mapping in Seattle, present case studies of individual landslides, describe the results of spatial assessments of landslide hazard, discuss hydrologic controls on landsliding, and outline an early warning system for rainfall-induced landslides.

  10. COL1A1 promoter polymorphisms analysis by pyrosequencing and sus-ceptibility to osteosarcoma%焦磷酸测序用于COL1A1基因多态性与骨肉瘤易感性关系分析

    Institute of Scientific and Technical Information of China (English)

    颜茂华; 许斌; 赵立来; 朱求亮; 罗建民; 杨正明

    2015-01-01

    Objective To study the correlationship between type Ⅰcollagenα1 (COL1A1) gene polymorphism and the occurrence of osteosarcoma. Methods Peripheral blood from 54 patients with osteosarcoma and 126 normal ones were collected, rs1061970 genotype of COL1A1 gene was amplified with PCR and products were analyzed by pyrosequencing among the samples. Results The allele frequency of TT (13.0%) and CT (48.1%) was significantly higher in pathologi-cal group than that in the normal control group, which manifested a allele frequency of TT(11.9%) and CT(30.2%) (P0.05), but the risk was still on the rise of osteosarcoma. Conclusion COL1A1 gene polymorphism may be related with the incidence of osteosarcoma, patients who carry the T allele of gene of COL1A1 may increase the risk of osteosarcoma occurrence.%目的:观察骨肉瘤患者Ⅰ型胶原α1(COL1A1)基因多态性,探讨骨肉瘤与COL1A1基因多态性的相关性。方法收集骨肉瘤以及正常患者外周血样本,应用焦磷酸测序方法(Pyrosequencing)对54例骨肉瘤患者与126例健康对照者COL1A1基因rs1061970位点进行分析。结果54例骨肉瘤患者COL1A1rs1061970位点基因型频率中,TT(13.0%)和CT(48.1%)要显著高于正常对照组TT基因型频率11.9%及CT等位基因频率30.2%(P<0.05),骨肉瘤患者组中T等位基因的频率为37.0%,高于对照组的27.0%,OR为1.59,95%CI 0.99~2.57,差异无统计学意义(P>0.05),但是骨肉瘤的发病风险仍呈上升趋势。结论COL1A1基因多态性与骨肉瘤的发生具有相关性,携带COL1A基因T等位基因的发生骨肉瘤的风险增高。

  11. A crucialidade dos condicionantes internos: o desenvolvimento comparado das colônias temperadas inglesas entre 1850 e 1930

    Directory of Open Access Journals (Sweden)

    Cristina Fróes de Borja Reis

    2009-06-01

    Full Text Available Fundamentado numa retomada histórico-analítica da trajetória socioeconômica da Austrália, do Canadá e da Argentina, o presente trabalho investiga por que tais países - que possuíam em comum o fato de serem colônias temperadas inglesas -, mesmo partindo de condições aparentemente muito semelhantes, atingiram resultados econ��micos e sociais tão distintos. Apesar de partirem da noção das relações de poder características do Sistema Mundial naquele período, as autoras atribuem papel crucial aos condicionantes internos para a escolha da estratégia de crescimento e desenvolvimento econômicos e defendem que somente a partir de uma combinação analítica dos fatores externos e internos, bem como de suas interações, é possível entender por que determinadas estratégias foram adotadas.Based on an historical-analytical review of the social-economic path of Australia, Canada and Argentina, this paper investigates why such countries - that had in common the fact of being British temperate colonies - in spite of starting from apparently very similar conditions, they reached distinct economic and social results. Although the authors do not ignore the typical power relations of the World System at that time, they attribute crucial role to the internal features of these countries in their choices of growth and development strategies. The authors support that only from an analytical combination of the internal and external features, such as their interactions, it is possible to understand why particular strategies were taken.

  12. A method distinguishing expressed vs. null mutations of the Col1A1 gene in osteogenesis imperfecta

    Energy Technology Data Exchange (ETDEWEB)

    Redford-Badwal, D.A.; Stover, M.L.; McKinstry, M. [and others

    1994-09-01

    Osteogenesis imperfecta (OI) is a heterogeneous group of heritable disorders of bone characterized by increased susceptibility to fracture. Most of the causative mutations were identified in patients with the lethal form of the disease. Attention is now shifting to the milder forms of OI where glycine substitutions and null producing mutations have been found. Single amino acid substitutions can be identified by RT/PCR of total cellular RNA, but this approach does not work well for null mutations since the defective transcript does not accumulate in the cytoplasm. We have altered our RNA extraction method to separate RNA from the nuclear and cytoplasmic compartments of cultured fibroblasts. Standard methods of mutation identification (RT/PCR followed by SSCP) is applied to each RNA fraction. DNA from an abnormal band on the SSCP gel is eluted and amplified by PCR for cloning and sequencing. Using this approach we have identified an Asp to Asn change in exon 50 (type II OI) and a Gly to Arg in exon 11 (type I OI) of the COL1A1 gene. These changes were found in both nuclear and cytoplasmic compartments. These putative mutations are currently being confirmed by protein studies. In contrast, three patients with mild OI associated with reduced {proportional_to}(I)mRNA, had distinguishing SSCP bands present in the nuclear but not the cytoplasmic compartment. In one case a frame shift mutation was observed, while the other two revealed polymorphisms. The compartmentalization of the mutant allele has directed us to look elsewhere in the transcript for the causative mutation. This approach to mutation identification is capable of distinguishing these fundamentally different types of mutations and allows for preferential cloning and sequencing of the abnormal allele.

  13. Eficiência e período de arividade dos inimigos naturais de Oncideres impluviata (Fermar, 1824(Col.: Cerambycidae.

    Directory of Open Access Journals (Sweden)

    Ervandil Corrêa Costa

    2009-09-01

    Full Text Available Normal 0 21 false false false MicrosoftInternetExplorer4 Objetivou-se, com este estudo, o conhecimento do conjunto de inimigos naturais e a ação destes ao longo do desenvolvimento das larvas de Oncideres impluviata. No período de 1984/85, em Almirante Tamandaré – Paraná, coletou-se periodicamente galhos de bracatinga (Mimosa scabrella Benth. cortados pelo serrador. As larvas coletadas a campo completaram o ciclo em laboratório em tubos de ensaio contendo serragem umedecida de bracatinga. Ao retirar-se as larvas dos galhos anotou-se o ponto em relação à base-ápice do galho, além da data de coleta e o instar em que se encontravam. Avaliou-se a eficiência dos inimigos naturais e o período de atividade destes. As observações efetuadas permitiram concluir que a eficiência dos inimigos naturais e o período de atividade destes. As observações efetuadas permitiram concluir que a ação predatória foi mais eficiente do que o parasitismo, sendo que esta tende a diminuir com o desenvolvimento larval, ao passo que a ação predatória aumenta concomitantemente no decorrer do desenvolvimento das larvas. O parasitóide mais freqüente foi Cenocoelius sp. (Hym.; Gracanidae e entre os predadores destacam-se Cregya difformis (Col.; Coleridae e Lithrips sp. (Thys.; Phloeothripidae, entre outros.

  14. Polymorphisms in TNC and COL5A1 genes are associated with risk of superficial digital flexor tendinopathy in National Hunt Thoroughbred racehorses.

    Science.gov (United States)

    Tully, L J; Murphy, A M; Smith, R K W; Hulin-Curtis, S L; Verheyen, K L P; Price, J S

    2014-05-01

    To explore whether genetic susceptibility is a potential risk factor for superficial digital flexor (SDF) tendinopathy in Thoroughbred (TB) racehorses. To identify informative single nucleotide polymorphisms (SNPs) that capture genetic diversity across a range of candidate genes and to investigate, in a case-control study, their association with SDF tendinopathy in UK National Hunt TB racehorses in training. Case-control candidate gene association study. This study used in silico gene assembly and DNA sequencing to screen candidate genes for SNPs. Seven candidate genes were selected using a hypothesis-driven approach: tenascin-C (TNC), collagen, type 1, α 1 (COL1A1), collagen, type 5, α 1 (COL5A1), matrix metalloproteinase type 3 (MMP3), matrix metalloproteinase type 13 (MMP13), fibromodulin (FMOD) and cartilage oligomeric matrix protein (COMP). The SNPs were validated in DNA isolated from 48 TB racehorses and used to genotype 270 racehorses with SDF tendinopathy and 270 yard-matched controls. Genotyping of cases and controls was performed using SNaPshot™. Racehorses heterozygous for the TNC BIEC2-696469 polymorphism were less likely to have SDF tendinopathy than racehorses homozygous for the wild-type allele (odds ratio [OR] 0.56, 95% confidence interval [CI] 0.36-0.85, P = 0.01). This finding remained significant after adjustment for age and racing background (OR 0.57, 95% CI 0.36-0.92, P = 0.03). Racehorses homozygous for the novel COL5A1 COL5A1_01 variant allele were nearly 3 times more likely to have SDF tendinopathy than those homozygous for the wild-type allele (OR 2.82, 95% CI 1.25-6.35, P = 0.01); this association remained significant after adjustment for age and racing background (OR 2.77, 95% CI 1.18-6.53, P = 0.03). Results suggest that sequence variants in TNC and COL5A1 genes are associated with SDF tendinopathy in TB racehorses. In future genetic markers may be used to identify horses at risk of SDF tendinopathy. © 2013 EVJ Ltd.

  15. Anatomia de estípulas e coléteres de Psychotria carthagenensis Jacq. (Rubiaceae Stipule and colleter anatomy of Psychotria carthagenensis Jacq. (Rubiaceae

    Directory of Open Access Journals (Sweden)

    Narah Costa Vitarelli

    2009-12-01

    Full Text Available Psychotria carthagenensis (Rubiaceae pode ser identificada pela presença de estípulas apicais lanceoladas. Muitos gêneros da família têm estípulas com estruturas secretoras, denominadas coléteres. Sobre a estrutura de estípulas e coléteres pouco é conhecido. O objetivo do presente trabalho foi caracterizar anatomicamente estípulas e coléteres de indivíduos de P. carthagenensis ocorrentes no Estado de Santa Catarina (Brasil. Amostras de estípulas apicais dos ramos foram coletadas, fixadas e processadas para estudos em microscopias óptica e eletrônica de varredura. Testes histoquímicos foram aplicados em material in vivo. As estípulas são fundidas pela base e separadas na porção apical. Na face adaxial ocorrem tricomas multicelulares, entre os quais estão os coléteres. Estes têm base constricta, poros na superfície cuticular e epiderme em paliçada envolvendo um parênquima axial, o qual pode conter ráfides. Os coléteres secretam substâncias mucilaginosas. Esta secreção é muito importante para proteger o meristema apical caulinar e as folhas jovens.Psychotria carthagenensis (Rubiaceae is identified by the presence of lanceolate apical stipules. Several Rubiaceae genera have stipules with secretory structures called colleters. Little is known about the structures of stipules and colleters. This work aimed to characterize anatomically the stipules and the colleters of Psychotria carthagenensis from Santa Catarina state (Brazil. Apical shoot stipule samples were collected, fixed, and processed for light and scanning electron microscopy studies. Histochemical tests were made on in vivo material. The bases of stipules are connected and the apices are separate. On the adaxial surface, there are multicellular trichomes and the colleters are found among these. They have a constricted base, pores on the cuticle surface, parenchymatic middle axis surrounded by a layer of palisade-like epidermal cells, in which may have

  16. SIRT1 deacetylates RFX5 and antagonizes repression of collagen type I (COL1A2) transcription in smooth muscle cells

    Energy Technology Data Exchange (ETDEWEB)

    Xia, Jun [Department of Respiratory Medicine, The First Affiliated Hospital of Nanjing Medical University (China); Department of Respiratory Medicine, Jiangsu Provincial Hospital of Chinese Traditional Medicine (China); Wu, Xiaoyan; Yang, Yuyu; Zhao, Yuhao [Atherosclerosis Research Center, Key Laboratory of Cardiovascular Disease and Molecular Intervention, Department of Pathophysiology, Nanjing Medical University (China); Fang, Mingming [Jiangsu Jiankang Vocational Institute (China); Xie, Weiping, E-mail: wpxienjmu@gmail.com [Department of Respiratory Medicine, The First Affiliated Hospital of Nanjing Medical University (China); Wang, Hong, E-mail: hwangnjmu@gmail.com [Department of Respiratory Medicine, The First Affiliated Hospital of Nanjing Medical University (China); Xu, Yong [Atherosclerosis Research Center, Key Laboratory of Cardiovascular Disease and Molecular Intervention, Department of Pathophysiology, Nanjing Medical University (China)

    2012-11-16

    Highlights: Black-Right-Pointing-Pointer SIRT1 interacts with and deacetylates RFX5. Black-Right-Pointing-Pointer SIRT1 activation attenuates whereas SIRT1 inhibition enhances collagen repression by RFX5 in vascular smooth muscle cells. Black-Right-Pointing-Pointer SIRT1 promotes cytoplasmic localization and proteasomal degradation of RFX5 and cripples promoter recruitment of RFX5. Black-Right-Pointing-Pointer IFN-{gamma} represses SIRT1 expression in vascular smooth muscle cells. Black-Right-Pointing-Pointer SIRT1 agonist alleviates collagen repression by IFN-{gamma} in vascular smooth muscle cells. -- Abstract: Decreased expression of collagen by vascular smooth muscle cells (SMCs) within the atherosclerotic plaque contributes to the thinning of the fibrous cap and poses a great threat to plaque rupture. Elucidation of the mechanism underlying repressed collagen type I (COL1A2) gene would potentially provide novel solutions that can prevent rupture-induced complications. We have previously shown that regulatory factor for X-box (RFX5) binds to the COL1A2 transcription start site and represses its transcription. Here we report that SIRT1, an NAD-dependent, class III deacetylase, forms a complex with RFX5. Over-expression of SIRT1 or NAMPT, which synthesizes NAD+ to activate SIRT1, or treatment with the SIRT1 agonist resveratrol decreases RFX5 acetylation and disrupts repression of the COL1A2 promoter activity by RFX5. On the contrary, knockdown of SIRT1 or treatment with SIRT1 inhibitors induces RFX5 acetylation and enhances the repression of collagen transcription. SIRT1 antagonizes RFX5 activity by promoting its nuclear expulsion and proteasomal degradation hence dampening its binding to the COL1A2 promoter. The pro-inflammatory cytokine IFN-{gamma} represses COL1A2 transcription by down-regulating SIRT1 expression in SMCs. Therefore, our data have identified as novel pathway whereby SIRT1 maintains collagen synthesis in SMCs by modulating RFX5 activity.

  17. 类人胶原蛋白基因COL6A2的克隆及其在大肠杆菌中的表达%Cloning of Human-like Collagen Gene COL6A2 and Its Expression in E . coli

    Institute of Scientific and Technical Information of China (English)

    王皓; 徐立群; 陈欢; 孙旸; 王刚; 陈光

    2014-01-01

    根据GenBank上查到的人胶原蛋白序列COL6A2(NM058175.2),利用Primer 5设计特异性引物,以吉林农业大学生物物理实验室构建的重组质粒pCMV-Sport6-COL6A2为模板进行目的基因的克隆,获得目的基因COL6A2,然后用双酶切的方法连接目的基因COL6A2和表达载体pET32a,将连接产物转化到大肠杆菌中构建原核表达载体pET32a-COL6A2。再将鉴定成功的重组质粒pET32a-COL6A2分别转化到大肠杆菌BL21、BL21(DE3)、BL21(BE3)plysS及Rosetta(DE3)中,采用1 mmol/L的异丙基-β-D-硫代半乳糖苷(IPTG)诱导重组蛋白表达,经12%SDS-PAGE电泳分析并筛选出重组蛋白表达量最高的菌株。利用Ni Sepharose 6 Fast Flow琼脂糖树脂亲和层析柱纯化重组蛋白。结果表明:获得了大小为570 bp的COL6A2片段,经测序鉴定序列正确;成功构建了pET32a-COL6A2原核表达载体并表达出约30 kD的目的蛋白;筛选出BL21(DE3)作为高效表达菌株,其重组蛋白表达量占菌体总蛋白的23.9%;经镍离子亲和层析纯化获得了纯度>90%的目的蛋白。%According to the sequence of COL6A2 gene(NM0581 75.2)from GenBank of NCBI,specific DNA primers were designed by primer 5 .Target gene COL6A2 was obtained by PCR from the recombi-nant plasmid of pCMV-Sport6-COL6A2 structured by laboratory,gene COL6A2 and pET32a vector were connected by restriction endonuclease digestion assay .The recombinant plasmids of pET32a-COL6A2 were transformed into E .coli BL21 ,BL21 (DE3),BL21 (BE3)plysS and Rosetta(DE3)respectively and induced by IPTG .Then the best efficient strain was selected by SDS-PAGE assay .The recombinant protein was purified by Ni Sepharose 6 Fast Flow.The results show that cDNA sequence of COL6A2 was cloned correctly .The vector of pET32a-COL6A2 was constructed and the target protein about 30 kD was expressed successfully .E .coli BL21 (DE3)was screened as efficient expression strain and the

  18. A survey of veterinary antimicrobial prescribing practices, Washington State 2015.

    Science.gov (United States)

    Fowler, H; Davis, M A; Perkins, A; Trufan, S; Joy, C; Buswell, M; McElwain, T F; Moore, D; Worhle, R; Rabinowitz, P M

    2016-12-24

    Antimicrobial resistance is a growing global health issue. It is also a recognised problem in veterinary medicine. Between September and December 2015 the authors administered a cross-sectional survey to licensed veterinarians in Washington State to assess factors affecting antimicrobial prescribing practices among veterinarians in Washington State. Two hundred and three veterinarians completed the survey. The majority of respondents (166, 82 per cent) were engaged in small animal or exotic animal practice. 24 per cent of respondents reported not ordering culture and sensitivity (C/S) testing in practice. Of the 76 per cent of veterinarians who reported ordering C/S tests, 36 per cent reported ordering such testing 'often' or 'always' when treating presumptive bacterial infections. Most respondents (65 per cent) mentioned cost as the most common barrier to ordering a C/S test. Only 16 (10 per cent) respondents reported having access to or utilising a clinic-specific antibiogram. This survey demonstrated that while antimicrobials are commonly used in veterinary practice, and veterinarians are concerned about antimicrobial resistance, cost is a barrier to obtaining C/S tests to guide antimicrobial therapy. Summaries of antimicrobial resistance patterns are rarely available to the practising veterinarian. Efforts to promote antimicrobial stewardship in a 'One Health' manner should address barriers to the judicious use of antimicrobials in the veterinary practice setting. British Veterinary Association.

  19. Deep long-period earthquakes beneath Washington and Oregon volcanoes

    Science.gov (United States)

    Nichols, M.L.; Malone, S.D.; Moran, S.C.; Thelen, W.A.; Vidale, J.E.

    2011-01-01

    Deep long-period (DLP) earthquakes are an enigmatic type of seismicity occurring near or beneath volcanoes. They are commonly associated with the presence of magma, and found in some cases to correlate with eruptive activity. To more thoroughly understand and characterize DLP occurrence near volcanoes in Washington and Oregon, we systematically searched the Pacific Northwest Seismic Network (PNSN) triggered earthquake catalog for DLPs occurring between 1980 (when PNSN began collecting digital data) and October 2009. Through our analysis we identified 60 DLPs beneath six Cascade volcanic centers. No DLPs were associated with volcanic activity, including the 1980-1986 and 2004-2008 eruptions at Mount St. Helens. More than half of the events occurred near Mount Baker, where the background flux of magmatic gases is greatest among Washington and Oregon volcanoes. The six volcanoes with DLPs (counts in parentheses) are Mount Baker (31), Glacier Peak (9), Mount Rainier (9), Mount St. Helens (9), Three Sisters (1), and Crater Lake (1). No DLPs were identified beneath Mount Adams, Mount Hood, Mount Jefferson, or Newberry Volcano, although (except at Hood) that may be due in part to poorer network coverage. In cases where the DLPs do not occur directly beneath the volcanic edifice, the locations coincide with large structural faults that extend into the deep crust. Our observations suggest the occurrence of DLPs in these areas could represent fluid and/or magma transport along pre-existing tectonic structures in the middle crust. ?? 2010 Elsevier B.V.

  20. Museo Nacional Aeroespacial Washington» (EE.UU.

    Directory of Open Access Journals (Sweden)

    Hellmuth, George

    1977-11-01

    Full Text Available The building described in this article was finished last year and ít is located in a privileged area of Washington, near the Capitol and the National Art Gallery. It has a total of 26 exhibition rooms, with a series of galleries, three of which are open and glass-enclosed. The majority of the structure consists of refractory steel and the walls are covered with marble panels. The building has 2 special rooms: a theater-auditorium and a space room; this unique modern building is well-designed, functional and it also offers plastic beauty.El año pasado se terminó el edificio que describe este artículo, situado en un emplazamiento privilegiado, en Washington, cerca del Capitolio y de la Galería Nacional de Arte. Tiene un total de 26 salas de exposiciones con una serie de galerías, tres de las cuales son abiertas y acristaladas. La estructura se ha realizado, en su mayor parte, a base de acero refractario, y las paredes están recubiertas con paneles de mármol. Dispone de dos salas especiales: teatro-auditorio y espaciarlo, constituyendo un moderno edificio de rasgos singulares, resuelto con acierto, funcionalidad y belleza plástica.

  1. Washington State pediatricians' attitudes toward alternative childhood immunization schedules.

    Science.gov (United States)

    Wightman, Aaron; Opel, Douglas J; Marcuse, Edgar K; Taylor, James A

    2011-12-01

    To determine the frequency of parents' requests for alternative childhood immunization schedules (ACISs) and pediatricians' comfort with and willingness to use ACISs. Washington State primary care pediatricians were asked to complete an Internet-based survey on ACISs. The main outcome measures were the frequency of parents' requests for ACISs, pediatricians' comfort with their use, and pediatricians' willingness to use ACISs for individual vaccines. In addition, respondents were asked to characterize their practices and to provide demographic information. Of the 311 respondents (response rate: 65%), 209 met inclusion criteria and were included in analyses. Overall, 77% of eligible respondents reported that parents sometimes or frequently requested ACISs, and 61% were comfortable using an ACIS if requested by a parent. Pediatricians were least willing to consider using ACISs for diphtheria-tetanus toxoids-acellular pertussis vaccine, Haemophilus influenzae type b vaccine, and pneumococcal conjugate vaccine. Pediatricians who practiced in a neighborhood or community clinic were less comfortable using ACISs than were those in a 1- or 2-physician practice (odds ratio: 0.10). Washington State pediatricians are regularly being asked to use ACISs, and most of them are comfortable using them if requested. Pediatricians are least willing to delay H influenzae type b vaccine, diphtheria-tetanus toxoids-acellular pertussis vaccine, and pneumococcal conjugate vaccine, which suggests prioritization of immunizations that protect against potentially devastating bacterial infections of infancy and early childhood.

  2. Focus on: Washington Hospital Center, Biomedical Engineering Department.

    Science.gov (United States)

    Hughes, J D

    1995-01-01

    The Biomedical Engineering Department of the Washington Hospital Center provides clinical engineering services to an urban 907-bed, tertiary care teaching hospital and a variety of associated healthcare facilities. With an annual budget of over $3,000,000, the 24-person department provides cradle-to-grave support for a host of sophisticated medical devices and imaging systems such as lasers, CT scanners, and linear accelerators as well as traditional patient care instrumentation. Hallmarks of the department include its commitment to customer service and patient care, close collaboration with clinicians and quality assurance teams throughout the hospital system, proactive involvement in all phases of the technology management process, and shared leadership in safety standards with the hospital's risk management group. Through this interactive process, the department has assisted the Center not only in the acquisition of 11,000 active devices with a value of more than $64 million, but also in becoming one of the leading providers of high technology healthcare in the Washington, DC metropolitan area.

  3. 高校教务管理队伍建设现状分析和对策%Present Situation Analysis and Countermeasures of Col ege Educational Administration Team Construction

    Institute of Scientific and Technical Information of China (English)

    陶靖

    2015-01-01

    quality of col ege educational administration team construction is a key part related to whether the work of col eges can carry out. Now many col eges and universities are strengthening their own educational administration team construction, but a lot of work is not very satisfactory. col ege educational administration team construction has become one of bottleneck factors which col eges and universities need to address in the future development. This paper approaches from the pre-sent situation of the educational administration team construction in col eges and universities, find out existing problems, and puts forward countermeasures.%高校教务管理队伍建设好坏是关系到高校正常工作能否开展关键组成部分。目前许多高校都在加强高校自身的教务管理队伍建设,但是诸多建设不太理想,高校教务管理队伍建设俨然成为高校未来发展瓶颈性因素之一,亟待加以解决。本论文正是从高校未来教务管理队伍建设现状入手,找出存在问题,并提出应对对策。

  4. BioColBolsas

    OpenAIRE

    Vásquez Suárez, Nicolás; Perdomo Porras, Karen

    2013-01-01

    Este proyecto presenta un modelo de negocio enfocado a la comercialización de bolsas plásticas biodegradables ayudando a disminuir el impacto negativo que generan al planeta las bolsas plásticas tradicionales debido a su uso indiscriminado. La propuesta del negocio ofrece no sólo un producto que brinda una solución amigable sino también la posibilidad de construir, gestionar, y transmitir conocimiento, conciencia y responsabilidad frente al medio ambiente. Se quiere implementar un nuevo...

  5. Porous polymer monolithic col

    Directory of Open Access Journals (Sweden)

    Lydia Terborg

    2015-05-01

    Full Text Available A new approach has been developed for the preparation of mixed-mode stationary phases to separate proteins. The pore surface of monolithic poly(glycidyl methacrylate-co-ethylene dimethacrylate capillary columns was functionalized with thiols and coated with gold nanoparticles. The final mixed mode surface chemistry was formed by attaching, in a single step, alkanethiols, mercaptoalkanoic acids, and their mixtures on the free surface of attached gold nanoparticles. Use of these mixtures allowed fine tuning of the hydrophobic/hydrophilic balance. The amount of attached gold nanoparticles according to thermal gravimetric analysis was 44.8 wt.%. This value together with results of frontal elution enabled calculation of surface coverage with the alkanethiol and mercaptoalkanoic acid ligands. Interestingly, alkanethiols coverage in a range of 4.46–4.51 molecules/nm2 significantly exceeded that of mercaptoalkanoic acids with 2.39–2.45 molecules/nm2. The mixed mode character of these monolithic stationary phases was for the first time demonstrated in the separations of proteins that could be achieved in the same column using gradient elution conditions typical of reverse phase (using gradient of acetonitrile in water and ion exchange chromatographic modes (applying gradient of salt in water, respectively.

  6. Combattimenti col cane nero

    Directory of Open Access Journals (Sweden)

    Mario Bruno

    2015-07-01

    Full Text Available La depressione è stata definita in svariati modi: una volta si chiamava esaurimento nervoso, oggi è “il male oscuro”, “il male di vivere”, “umor nero” o, come l’aveva soprannominata Winston Churchill, “black dog”, un “cane nero” che ci divora. Sia come sia, oggi la depressione è riconosciuta come vera e propria malattia, una patologia subdola che colpisce a tradimento. Arriva silenziosa e devastante, preceduta o meno dai micidiali attacchi di panico, e taglia le gambe, chiude la persona sofferente in un limbo di silenzio e apatia; fa vedere tutto grigio, opaco, annienta interessi, desideri e, non di rado, la voglia di vivere. Tanti sono stati vittime della depressione. Anche fra le persone più note e di successo.

  7. Clinical study of molecular markers and COL1A1/PDGFB fusion gene in dermatofibrosarcoma protuberans%隆突性皮肤纤维肉瘤免疫表型和COL1A1/PDGFB融合基因的临床应用研究

    Institute of Scientific and Technical Information of China (English)

    叶新青; 邝晓聪; 韦常宏; 黄俊琪; 叶洪涛

    2015-01-01

    目的:探讨隆突性皮肤纤维肉瘤(dermatofibrosarcoma protuberans,DFSP)诊断中免疫表型和荧光原位杂交(fluores⁃cence in situ hybridization,FISH)检测COL1A1/PDGFB融合基因的应用价值。方法:观察73例DFSP中免疫组织化学标记物vimen⁃tin、CD34、CD99、S100、desmin、SMA和FISH检测COL1A1/PDGFB融合基因的表达。选取85例非DFSP作为免疫组织化学的对照组,10例非DFSP作为FISH检测COL1A1/PDGFB融合基因的对照组。结果:vimentin、CD34、CD99、S100、desmin、SMA在73例DF⁃SP中阳性率分别是100%、91.78%、61.64%、0、0、6.85%,在对照组中不同程度表达,其中CD34的表达在鉴别诊断中有意义。COL1A1/PDGFB融合基因在DFSP的阳性率为86.96%(60/69),对照组均阴性。结论:在DFSP的诊断中,COL1A1/PDGFB融合基因是DFSP较为特异性、敏感性的标记,而CD34是DFSP相对理想的标记。%Objective:To investigate the values of immunophenotype and the Collagen type1 alpha1/Proto-oncogene Proteins c-sis (COL1A1/PDGFB) fusion gene in the diagnosis of dermatofibrosarcoma protuberans (DFSP). Methods:IHC markers and the COL1A1/PDGFB fusion gene were detected by IHC staining and interphase fluorescence in situ hybridization (FISH) in 73 cases previously diagnosed as DFSP. A total of 85 and 10 non-DFSP cases were also included as controls for IHC staining and FISH, respectively. Results:In the 73 DFSP cases, the positive detection rates for immunohistochemical marker vimentin, CD34, CD99, S100, desmin and SMA were 100%, 91.78%, 61.64%, 0, 0, and 6.85%, correspondingly. Protein expression levels in these cases varied from the control group, and CD34 ex-pression was significantly different among the differential diagnoses. The positive detection rate for the COL1A1/PDGFB fusion gene was 86.96%(60/69), whereas the gene expression in the control group was negative. Conclusion:The COL1A1/PDGFB fusion gene is a highly specific and

  8. General George Washington; Exemplar-in-Chief: A Historical Analysis of George Washington’s Influence on the Early Continental Army and Civil Military Relations

    Science.gov (United States)

    2009-03-01

    Reprieve! Reprieve! Not every soldier sentenced to death wound up in a coffin.32 Washington used this method to insure the message "serious crimes...serious crimes. The death penalty was required as just punishment and to maintain discipline.... His steely resolve, but merciful nature, was evident in 21...profound belief Washington has in the still unborn republic. " ... if you have any regard for your Country, concern for yourself or posterity, or

  9. Factors Affecting Navy Working Capital Funding (NWCF) Net Operating Result: A Case Study of Naval Facilities Engineering Command Washington, Washington D.C.

    Science.gov (United States)

    2009-12-01

    deployed to Iraq as a Individual Augmentee (IA) for six months in the role of a FOB engineer of Multi- National Security Transition Command—Iraq... National Force—Iraq Comptroller office in Baghdad, Iraq as the budget and execution officer for xxi the period of one year. Capt Johnson returned to...separate organizations—Engineering Field Activity ( EFA ) Chesapeake, Public Works Center (PWC) Washington and Naval District Washington Regional

  10. 77 FR 72742 - Approval and Promulgation of State Implementation Plans: State of Washington; Regional Haze State...

    Science.gov (United States)

    2012-12-06

    ... for NO X for the TransAlta Centralia Generation LLC coal-fired power plant in Centralia, Washington... containing the BART determination for NO X at TransAlta. The TransAlta power plant, located in Centralia, Washington, is a two unit coal-fired power plant rated at 702.5 MW each, when burning coal from the...

  11. 78 FR 29615 - Establishment of Area Navigation (RNAV) Routes; Washington, DC

    Science.gov (United States)

    2013-05-21

    ... (RNAV) Routes; Washington, DC AGENCY: Federal Aviation Administration (FAA), DOT. ACTION: Final rule. SUMMARY: This action establishes five new RNAV routes in support of the Washington, DC, Optimization of..., DC Metropolitan area airports. DATES: Effective date 0901 UTC, August 22, 2013. The Director of...

  12. 78 FR 1753 - Security Zone, Potomac and Anacostia Rivers; Washington, DC

    Science.gov (United States)

    2013-01-09

    ..., DC AGENCY: Coast Guard, DHS. ACTION: Temporary final rule. SUMMARY: The Coast Guard is establishing a..., 1200 New Jersey Avenue SE., Washington, DC 20590, between 9 a.m. and 5 p.m., Monday through Friday...-ranking United States officials is expected to take place at the U. S. Capitol Building in Washington,...

  13. 77 FR 70964 - Security Zone, Potomac and Anacostia Rivers; Washington, DC

    Science.gov (United States)

    2012-11-28

    ..., DC AGENCY: Coast Guard, DHS. ACTION: Supplemental notice of proposed rulemaking. SUMMARY: This action... with the Presidential Inauguration in Washington, DC from January 15, 2013 through January 24, 2013 (77... Ground Floor, Room W12-140, 1200 New Jersey Avenue SE., Washington, DC 20590-0001. Deliveries...

  14. 77 FR 2450 - Security Zone; Potomac and Anacostia Rivers, Washington, DC

    Science.gov (United States)

    2012-01-18

    ..., DC AGENCY: Coast Guard, DHS. ACTION: Temporary final rule. SUMMARY: The Coast Guard is establishing a...., Washington, DC 20590, between 9 a.m. and 5 p.m., Monday through Friday, except Federal holidays. FOR FURTHER... officials will take place at the U.S. Capitol Building in Washington, DC, in close proximity to...

  15. 33 CFR 165.508 - Security Zone; Georgetown Channel, Potomac River, Washington, DC.

    Science.gov (United States)

    2010-07-01

    ... 33 Navigation and Navigable Waters 2 2010-07-01 2010-07-01 false Security Zone; Georgetown Channel, Potomac River, Washington, DC. 165.508 Section 165.508 Navigation and Navigable Waters COAST GUARD... § 165.508 Security Zone; Georgetown Channel, Potomac River, Washington, DC. (a) Definitions. (1)...

  16. 77 FR 64943 - Security Zone, Potomac and Anacostia Rivers; Washington, DC

    Science.gov (United States)

    2012-10-24

    ..., DC AGENCY: Coast Guard, DHS. ACTION: Notice of proposed rulemaking. SUMMARY: The Coast Guard proposes... the Presidential Inauguration in Washington, DC from January 15, 2013 through January 24, 2013. This... W12-140, 1200 New Jersey Avenue SE., Washington, DC 20590-0001. Deliveries accepted between 9 a.m....

  17. 76 FR 73663 - Notice of Intent To Repatriate Cultural Items: Washington State University, Museum of...

    Science.gov (United States)

    2011-11-29

    ... the cultural items should contact Mary Collins, Director of the Museum of Anthropology at Washington... National Park Service Notice of Intent To Repatriate Cultural Items: Washington State University, Museum of Anthropology, Pullman, WA AGENCY: National Park Service, Interior. ACTION: Notice. SUMMARY: The...

  18. 40 CFR 81.187 - Olympic-Northwest Washington Intrastate Air Quality Control Region.

    Science.gov (United States)

    2010-07-01

    ...: Clallam County, Grays Harbor County, Island County, Jefferson County, Mason County, Pacific County, San... 40 Protection of Environment 17 2010-07-01 2010-07-01 false Olympic-Northwest Washington... Designation of Air Quality Control Regions § 81.187 Olympic-Northwest Washington Intrastate Air...

  19. The Impact of Interstate Migration on Human Capital Development in Washington

    Science.gov (United States)

    Spaulding, Randy

    2010-01-01

    Washington State is a leader in the innovation economy largely due to the combination of aerospace, software, and biomedical industries centered in the greater Seattle area; and, the state's high level of international trade. Despite Washington's national ranking, the state is overly reliant on importing educated workers from other states and…

  20. 78 FR 19261 - Safe Drinking Water Act Sole Source Aquifer Program; Designation of Bainbridge Island, Washington...

    Science.gov (United States)

    2013-03-29

    ... AGENCY Safe Drinking Water Act Sole Source Aquifer Program; Designation of Bainbridge Island, Washington.... SUMMARY: Notice is hereby given that pursuant to Section 1424(e) of the Safe Drinking Water Act, the... Aquifer System located in Kitsap County, Washington is the sole or principle source of drinking water...