The FXII c.-4T > C Polymorphism as a Disease Modifier in Patients With Hereditary Angioedema Due to the FXII p.Thr328Lys Variant

Background: Hereditary angioedema due to the Thr328Lys variant in the coagulation factor XII (HAE-FXII) affects mainly women in whom the symptomatology is dependent on high estrogen levels. Clinical variability and incomplete penetrance are challenging features that hinder the diagnosis and management of HAE-FXII. The c.-4T>C Kozak polymorphism is the only common variation accounting for FXII plasma levels and was previously shown to modify the course of HAE due to C1-Inhibitor deficiency. Objectives: To assess the influence of the c.-4T>C polymorphism on disease expression in 39 Spanish HAE-FXII index patients. Methods: The c.-4T>C polymorphism was sequenced by the standard Sanger method, and HAE severity was calculated according to the score by Cumming et al. (2003) The activation of the contact system was quantified by the kallikrein-like activity of plasma in chromogenic assays upon activation with high-molecular-weight dextran sulfate. Results: The c.-4CC genotype was overrepresented in the studied cohort: 82% were CC-homozygous (expected frequency = 59%) and 18% were CT-heterozygous (expected frequency = 39%) (p = 0.001). Patients with a c.-4CC genotype exhibited higher kallikrein-like activity (0.9659 +/- 0.1136) than those with a c.-4TC genotype (0.7645 +/- 0.1235) (p = 0.024) or healthy donors. Moreover, the polymorphism influenced HAE-FXII severity score (c.-4CC = 4.43 +/- 2.28 vs c.-4TC = 2.0 +/- 1.15; p = 0.006) but not the degree of estrogen dependence or time until remission. Conclusion: The c.-4T>C polymorphism is overrepresented in a Spanish HAE-FXII cohort and significantly influences the degree of contact system activation and the clinical severity of the disease

Revista de Vertebrados de la Estación Biológica de Doñana

Página 298 con error de impresiónEstudio cariológico en dos especies de Serránidos del Mediterráneo (Peces: PerciformesRelaciones morfométricas de Atherina boyeri Risso (Pisces: Atherinidae) de la laguna de Zoñar (Córdoba, España)Contribución al conocimiento de la biometríay osteología de Barbus barbus bocagei, Steindachner, 1866 (Pisces: CyprinidaeLa actividad de la salamandra, Salamandra salamandra (L.), en Galicia.Estudios sobre el sapo corredor (Bufo calamita) en el Sur de España.1. BiometríaEstudios sobre el sapo corredor (Bufo calamita) en el Sur de España. II. AlimentaciónBiología de la reproducción de Rana iberica Boulenger 1879 en zonas simpátridas con Rana temporaria Linneo, 1758Nuevos datos sobre la distribución geográfica de Lacerta monticola cantabrica Mertens, 1929. (Sauria, lacertidae).Datos sobre Lacerta monticola Boulenger, 1905 (Saurio: lacertidae)en el oeste del Sistema Central.Nueva especie de Anolis (lacertilia, Iguanidae) para CubaEtograma cuantificado del cortejo en Falco naumannOntogénesis del comportamiento predador en Falco naumanniContaminación xenobiótica del Parque Nacional de Doñana. 1. Residuos de insecticidas organoclorados, bifenilos policlorados y mercurio en anseriformes y gruiformesReproducción del críalo (Clamator glandarius) en Sierra Morena CentraNidificación de Picus viridis en taludes de arcilla en Ramblas de Guadix (Granada)Comportamiento del calamón Porphyrio porphyrio (Linnaeus, 1758) en Doñana, Marismas del GuadalquiviBiología y ecología de la malvasía (Oxyura leucocephala) en Andalucía.On the differential diet of Carnivora in islands:a method for analysing it and a particular case.Notas sobre la distribución pasada y actual del meloncillo Herpestes ichneumon (L.) en la Península IbéricaEstructuración de las interacciones en una camada de lobos (Canís lupus)Nuevos datos sobre la distribución del Cottus gobio L. (pisces, cottidae) en EspañaSobre la alimentación de Callopistes maculatus (Reptilia,teiidaeObservación de Lacerta lepida depredando un nido de Alectoris rufaNueva cita del galápago leproso Mauremys leprosa (Scheigger, 1812) en los pirineosPrimera cita de Psammodromus hispanicus (Fitzinger) para GaliciaSobre la presencia de Gallotia (=Lacerta) atlantica (Peters y Doria, 1882) en Gran CanariaNota sobre las Lacerta monticola Boulenger, 1905 de las zonas del norte de GaliciaPrimeras notas herpetológicas de la provincia de Soria.Datos sobre selección de hábitat y ecología alimenticia del porrón pardo (Aythya nyroca)Probable nueva área de cría del pechiazul (Luscinia svecica cyanecula) en el sistema central. PerisPredación de Falco peregrinus y Falco subbuteo sobre quirópterosResultados de la producción de Oxyura leucocephala en el año 1981 en las lagunas de Zóñar y el rincónAnálisis de la dieta de Tyto alba en un medio árido antropógeno de los alrededores de Almería¿Son Eudocimus ruber y E. albus distintas especies?EL Estornino pinto (Sturnus vulgaris) en Canarias: nueva especie nidifiante en el archipiélagoDatos sobre la alimentación otoñal del cárabo (Strix aluco) en la sierra de CádizObservación primaveral de rapaces y otras aves en el páramo del estado de Mérida (Venezuela).Murciélago hematófago (Desmodus rotundus) parasitando a un chigüire (Hidrochoerus hydrochaeris)Observaciones sobre la reproducción del zacatuche o teporinho Romerolagus diazi (Mammalia: lagomorpha)Estudio electroforético de hemoglobinas y esterasas sanguíneas en Rhinolophus ferrumequinum (Chiroptera: rhinolophidae) y de hemoglobinas en Tadaria taeniotis (chiroptera: molossidae)Peer reviewe

An overview of lipodystrophy and the role of the complement system

The complement system is a major component of innate immunity playing essential roles in the destruction of pathogens, the clearance of apoptotic cells and immune complexes, the enhancement of phagocytosis, inflammation, and the modulation of adaptive immune responses. During the last decades, numerous studies have shown that the complement system has key functions in the biology of certain tissues. For example, complement contributes to normal brain and embryonic development and to the homeostasis of lipid metabolism. However, the complement system is subjected to the effective balance between activation-inactivation to maintain complement homeostasis and to prevent self-injury to cells or tissues. When this control is disrupted, serious pathologies eventually develop, such as C3 glomerulopathy, autoimmune conditions and infections. Another heterogeneous group of ultra-rare diseases in which complement abnormalities have been described are the lipodystrophy syndromes. These diseases are characterized by the loss of adipose tissue throughout the entire body or partially. Complement over-activation has been reported in most of the patients with acquired partial lipodystrophy (also called Barraquer-Simons Syndrome) and in some cases of the generalized variety of the disease (Lawrence Syndrome). Even so, the mechanism through which the complement system induces adipose tissue abnormalities remains unclear. This review focuses on describing the link between the complement system and certain forms of lipodystrophy. In addition, we present an overview regarding the clinical presentation, differential diagnosis, classification, and management of patients with lipodystrophy associated with complement abnormalities

Células solares fotoelectroquímicas basadas en esponjas fotónicas

Referencia OEPM: P200501420.-- Fecha de solicitud: 03/06/2005.-- Titulares: Universidad Politécnica de Valencia (UPV), Consejo Superior de Investigaciones Científicas (CSIC).La presente invención se refiere a un material fotosensible nanoparticulado con estructura de esponja fotónica, que comprende nanopartículas de uno o más óxidos de metales seleccionados entre: (a) óxidos de uno o más metales de transición, (b) óxidos de uno o más metales de transición interna, (c) óxidos mixtos de los metales anteriores, y (d) combinaciones de al menos dos de (a), (b) y (c), estando dichos óxidos metálicos dispuestos alrededor de cavidades micrométricas de distintos tamaños y distribuidas dichas cavidades al azar; así como a una célula solar fotoelectroquímica que comprende dicha esponja fotónica y al procedimiento de fabricación de la esponja fotónica.Peer reviewe

Groove-assisted solution growth of lead bromide perovskite aligned nanowires: A simple method towards photoluminescent materials with guiding light properties

High refractive index nanowires are very attractive because of their waveguiding properties and their multiple applications. In this sense, metal halide perovskites, an emerging and appealing optoelectronic material, have also been tailored into nanowire structures. Here, we present an easy, low-cost and versatile method that has made possible to achieve nanowires of controlled and uniform width. The method has been applied here to all-inorganic and hybrid lead bromide perovskite (CsPbBr and CHNHPbBr respectively) materials. The procedure is based on the spin coating of precursor solutions, at room temperature, on a PDMS replica of the periodic grooves and lands of commercially available Compact Disc (CD) or Digital Versatile Disc (DVD) polycarbonate plates. The method can be applied for the synthesis of other material nanowires before being transferred onto other substrates. The obtained CsPbBr and CHNHPbBr nanowires exhibit high photoluminescence and guiding light properties along the material.The authors would like to gratefully acknowledge the financial support from the Spanish Ministry of Economy and Competitiveness (MIMECO) (Severo Ochoa (SEV-2016-0683), MAT2015-69669-P projects) and Generalitat Valenciana (Prometeo II/2017/026 Excellency project). P. A. acknowledges the Fundación Ramón Areces (XVII Concurso Nacional para la adjudicación de Ayudas a la Investigación en Ciencias de la Vida y de la Materia) for its funding. F. R.-M. thanks the financial contribution of the Spanish Ministry of Economy and Competitiveness (MIMECO) through the program for young researchers support (TEC 2015 2015-74405-JIN). Finally, IR also thanks the Electron Microscopy Service of the Universitat Politècnica de València for their support in FESEM image acquisition and FIB milling, as well as Ana Moreno for her help in template preparationWe acknowledge support of the publication fee by the CSIC Open Access Support Initiative through its Unit of Information Resources for Research (URICI

Celulas solares fotoelectroquímicas basadas en esponjas fotónicas.

Fecha de presentación internacional:01.06.2006.- Titulares:Consejo Superior de Investigaciones Científicas CSIC).- Universidad Politécnoca de Valencia.[EN]The invention relates to a photosensitive nanoparticulate material having a photonic sponge structure and comprising nanoparticles of one or more metal oxides selected from among: (a) oxides of one or more transition metals, (b) oxides of one or more inner-transition metals, (c) mixed oxides of said metals, and (d) combinations of at least two of (a), (b) and (c), said metal oxides being disposed around micrometric cavities of different sizes and said cavities being randomly distributed. The invention also relates to a photoelectrochemical solar cell comprising the photonic sponge and to a method of producing said photonic sponge.[ES]La presente invención se refiere a un material fotosensible nanoparticulado con estructura de esponja fotónica, que comprende nanoparticulas de uno o más óxidos de metales seleccionados entre: (a) óxidos de uno o más metales de transición, (b) óxidos de uno o más metales de transición interna,(e) óxidos mixtos de los metales anteriores, y (d) combinaciones de al menos dos de (a), (b) y (e), estando dichos óxidos metálicos dispuestos alrededor de cavidades micrométricas de distintos tamaños y distribuidas dichas cavidades al azar; así como a una célula solar fotoelectroquímica que comprende dicha esponja fotónica y al procedimiento de fabricación de la esponja fotónica.Peer reviewe

Optical properties of organic/inorganic perovskite microcrystals through the characterization of Fabry-Pérot resonances

A precise knowledge of the optical properties, specifically the refractive index, of organic/inorganic perovskites, is essential for pushing forward the performance of the current photovoltaic devices that are being developed from these materials. Here we show a robust method for determining the real and the imaginary part of the refractive index of MAPbBrthin films and micrometer size single crystals with planar geometry. The simultaneous fit of both the optical transmittance and the photoluminescence spectra to theoretical models defines unambiguously the refractive index and the crystal thickness. Because the method relies on the optical resonance phenomenon occurring in these microstructures, it can be used to further develop optical microcavities from perovskites or from other optical materials.This work was supported by the Spanish ministry of Economy, Industry and Competitiveness (MINECO) through the projects TEC2015-74405-JIN, MAT2015-69669-P as well as the regional projects of both Provincia Autonoma di Trento (PAT) of Italy, through the call Grandi Progetti 2012: SIQURO and the Comunidad Valenciana of Spain project PrometeoII/2014/026

Double-wall carbon nanotube-porphyrin supramolecular hybrid: Synthesis and photophysical studies

Double-wall carbon nanotubes (DWCNTs) with pyridyl units covalently attached to the external wall through isoxazolino linkers and carboxylic groups that have been esterified by pentyl chains are synthesized. The properties of these modified DWCNTs are then compared with an analogous sample based on single-wall carbon nanotubes (SWCNTs). Raman spectroscopy shows the presence of characteristic radial breathing mode vibrations, confirming that the samples partly retain the integrity of the nanotubes in the case of DWCNTs, including the internal and external nanotubes. Quantification of the pyridyl content for both samples (DWCNT and SWCNT derivatives) is based on X-ray photoelectron spectroscopy and thermogravimetric profiles, showing very similar substituent load. Both pyridyl- containing nanotubes (DWCNTs and SWCNTs) form a complex with zinc porphyrin (ZnP), as evidenced by the presence of two isosbestic points in the absorption spectra of the porphyrin upon addition of the pyridyl-functionalized nanotubes. Supramolecular complexes based on pyridyl-substituted DWCNTs and SWCNTs quench the emission and the triplet excited state identically, through an energy-transfer mechanism based on pre-assembly of the ground state. Thus, the presence of the intact inner wall in DWCNTs does not influence the quenching behavior, with respect to SWCNTs, for energy-transfer quenching with excited ZnP. These results sharply contrast with previous ones referring to electron-transfer quenching, in which the double-wall morphology of the nanotubes has been shown to considerably reduce the lifetime of charge separation, owing to faster electron mobility in DWCNTs compared to SWCNTs.Financial support from the Ministry of Science and Innovation of Spain, (CTQ2010-17498, CTQ2012-32315, PLE2009-0038, as well as Consolider-Ingenio Projects HOPE CSD2007-00007 and MULTI-CAT) is gratefully acknowledged. Funding by the Generalidad Valenciana (Prometeo 2012-013) is also acknowledged. P. A. also thanks the Spanish Ministry of Science and Innovation for a Juan de la Cierva research associate contract. M. V. thanks a grant from the Junta de Comunidades de Castilla-La Mancha.Vizuete, M.; Gómez-Escalonilla, MJ.; García Fierro, JL.; Atienzar Corvillo, PE.; García Gómez, H.; Langa, F. (2014). Double-wall carbon nanotube-porphyrin supramolecular hybrid: Synthesis and photophysical studies. ChemPhysChem. 15(1):100-108. doi:10.1002/cphc.201300839S100108151Green, A. A., & Hersam, M. C. (2011). Properties and Application of Double-Walled Carbon Nanotubes Sorted by Outer-Wall Electronic Type. ACS Nano, 5(2), 1459-1467. doi:10.1021/nn103263bPeng, B., Locascio, M., Zapol, P., Li, S., Mielke, S. L., Schatz, G. C., & Espinosa, H. D. (2008). Measurements of near-ultimate strength for multiwalled carbon nanotubes and irradiation-induced crosslinking improvements. Nature Nanotechnology, 3(10), 626-631. doi:10.1038/nnano.2008.211Liu, K., Wang, W., Xu, Z., Bai, X., Wang, E., Yao, Y., … Liu, Z. (2009). Chirality-Dependent Transport Properties of Double-Walled Nanotubes Measured in Situ on Their Field-Effect Transistors. Journal of the American Chemical Society, 131(1), 62-63. doi:10.1021/ja808593vKim, Y. A., Muramatsu, H., Hayashi, T., Endo, M., Terrones, M., & Dresselhaus, M. S. (2004). Thermal stability and structural changes of double-walled carbon nanotubes by heat treatment. Chemical Physics Letters, 398(1-3), 87-92. doi:10.1016/j.cplett.2004.09.024Bouilly, D., Cabana, J., Meunier, F., Desjardins-Carrière, M., Lapointe, F., Gagnon, P., … Martel, R. (2011). Wall-Selective Probing of Double-Walled Carbon Nanotubes Using Covalent Functionalization. ACS Nano, 5(6), 4927-4934. doi:10.1021/nn201024uHayashi, T., Shimamoto, D., Kim, Y. A., Muramatsu, H., Okino, F., Touhara, H., … Endo, M. (2008). Selective Optical Property Modification of Double-Walled Carbon Nanotubes by Fluorination. ACS Nano, 2(3), 485-488. doi:10.1021/nn700391wPiao, Y., Chen, C.-F., Green, A. A., Kwon, H., Hersam, M. C., Lee, C. S., … Wang, Y. (2011). Optical and Electrical Properties of Inner Tubes in Outer Wall-Selectively Functionalized Double-Wall Carbon Nanotubes. The Journal of Physical Chemistry Letters, 2(13), 1577-1582. doi:10.1021/jz200687uHuang, J., Ng, A. L., Piao, Y., Chen, C.-F., Green, A. A., Sun, C.-F., … Wang, Y. (2013). 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Cycloaddition of benzyne to SWCNT: towards CNT-based paddle wheels. Chemical Communications, 46(37), 7028. doi:10.1039/c0cc01907kGómez-Escalonilla, M. J., Atienzar, P., Garcia Fierro, J. L., García, H., & Langa, F. (2008). Heck reaction on single-walled carbon nanotubes. Synthesis and photochemical properties of a wall functionalized SWNT-anthracene derivative. Journal of Materials Chemistry, 18(13), 1592. doi:10.1039/b717011dStankovich, S., Dikin, D. A., Piner, R. D., Kohlhaas, K. A., Kleinhammes, A., Jia, Y., … Ruoff, R. S. (2007). Synthesis of graphene-based nanosheets via chemical reduction of exfoliated graphite oxide. Carbon, 45(7), 1558-1565. doi:10.1016/j.carbon.2007.02.034Brozena, A. H., Moskowitz, J., Shao, B., Deng, S., Liao, H., Gaskell, K. J., & Wang, Y. (2010). Outer Wall Selectively Oxidized, Water-Soluble Double-Walled Carbon Nanotubes. Journal of the American Chemical Society, 132(11), 3932-3938. doi:10.1021/ja910626uFlavin, K., Lawrence, K., Bartelmess, J., Tasior, M., Navio, C., Bittencourt, C., … Giordani, S. (2011). Synthesis and Characterization of Boron Azadipyrromethene Single-Wall Carbon Nanotube Electron Donor−Acceptor Conjugates. ACS Nano, 5(2), 1198-1206. doi:10.1021/nn102831xBhyrappa, P., Krishnan, V., & Nethaji, M. (1993). Solvation and axial ligation properties of (2,3,7,8,12,13,17,18-octabromo-5,10,15,20-tetraphenylporphyrinato)zinc(II). Journal of the Chemical Society, Dalton Transactions, (12), 1901. doi:10.1039/dt9930001901Mizutani, T., Wada, K., & Kitagawa, S. (1999). Porphyrin Receptors for Amines, Amino Acids, and Oligopeptides in Water. Journal of the American Chemical Society, 121(49), 11425-11431. doi:10.1021/ja9922126D’Souza, F., Smith, P. M., Gadde, S., McCarty, A. L., Kullman, M. J., Zandler, M. E., … Ito, O. (2004). 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Chemical Communications, (10), 1130-1131. doi:10.1039/b301422cEl-Khouly, M. E., Ito, O., Smith, P. M., & D’Souza, F. (2004). Intermolecular and supramolecular photoinduced electron transfer processes of fullerene–porphyrin/phthalocyanine systems. Journal of Photochemistry and Photobiology C: Photochemistry Reviews, 5(1), 79-104. doi:10.1016/j.jphotochemrev.2004.01.003Kuciauskas, D., Lin, S., Seely, G. R., Moore, A. L., Moore, T. A., Gust, D., … Boyd, P. D. W. (1996). Energy and Photoinduced Electron Transfer in Porphyrin−Fullerene Dyads. The Journal of Physical Chemistry, 100(39), 15926-15932. doi:10.1021/jp961274