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

Long range superconducting proximity effect in YBa2Cu3O7 La0.7Ca0.3MnO3 weak link arrays

The interplay between ferromagnetism and superconductivity has attracted substantial interest due to its potential for exotic quantum phenomena and advanced electronic devices. Although ferromagnetism and superconductivity are antagonistic phenomena, ferromagnets F can host spin triplet superconductivity induced via proximity with superconductors S . To date, most of the experimental effort has been focused on single S F S junctions. Here, we have found the fingerprints of long range superconducting proximity effect in micrometric weak link arrays, formed by embedding YBa2Cu3O7 superconducting islands in a half metallic ferromagnet La0.7Ca0.3MnO3 film. These arrays show magnetoresistance oscillations that appear at temperatures below the critical temperature of YBa2Cu3O7 for currents below a threshold, indicating their superconducting origin. This realization paves the way for device architectures displaying macroscopic quantum interference effects, which are of interest for field sensing applications, among other

Large Magnetoresistance of Isolated Domain Walls in La2/3Sr1/3MnO3 Nanowires

Generation, manipulation, and sensing of magnetic domain walls are cornerstones in the design of efficient spintronic devices. Half-metals are amenable for this purpose as large low field magnetoresistance signals can be expected from spin accumulation at spin textures. Among half metals, La1−xSrxMnO3 (LSMO) manganites are considered as promising candidates for their robust half-metallic ground state, Curie temperature above room temperature (Tc = 360 K, for x = 1/3), and chemical stability. Yet domain wall magnetoresistance is poorly understood, with large discrepancies in the reported values and conflicting interpretation of experimental data due to the entanglement of various source of magnetoresistance, namely, spin accumulation, anisotropic magnetoresistance, and colossal magnetoresistance. In this work, the domain wall magnetoresistance is measured in LSMO cross-shape nanowires with single-domain walls nucleated across the current path. Magnetoresistance values above 10% are found to be originating at the spin accumulation caused by the mistracking effect of the spin texture of the domain wall by the conduction electrons. Fundamentally, this result shows the importance on non-adiabatic processes at spin textures despite the strong Hund coupling to the localized t2g electrons of the manganite. These large magnetoresistance values are high enough for encoding and reading magnetic bits in future oxide spintronic sensors. © 2023 The Authors. Advanced Materials published by Wiley-VCH GmbH.G.O. and D.S.-M. contributed equally to this work. The authors ac-knowledge received funding from the project To2Dox of FlagERA ERA-NET Cofund in Quantum Technologies implemented within the Euro-pean Union’s Horizon 2020 Program. This work was supported by Span-ish AEI through grants, PID2020-118078RB-I00, PID2020-11556RB-100and PID2020-117024GB-C43 and by Regional Government of MadridCAM through SINERGICO project Y2020/NMT-6661 CAIRO-CM. S.R.-G.also gratefully acknowledges the financial support of the Alexander vonHumboldt foundation. Work at CNRS/Thales supported by French ANR-22CE30-0020 "SUPERFAST". J.J.R was supported by the CSIC program forthe Spanish Recovery, Transformation and Resilience Plan funded by the Recovery and Resilience EU Facility EU regulation 2020/2094. The authorsthank the Helmholtz-Zentrum Berlin für Materialien und Energie for theallocation of synchrotron radiation beamtime.Open access funding enabled and organized by Projekt DEAL.Supporting InformationPeer reviewe

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