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The Iberian Roma Population Variant Server(IRPVS)

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Journal of Genetics and Genomics 2024年第7期51卷 769-773页

作者： Fabiola Mavillard Javier Perez-Florido Francisco M.Ortuño Amador Valladares Miren L.Álvarez-Villegas Gema Roldán Rosario Carmona Manuel Soriano Santiago Susarte Pilar Fuentes Daniel López-López Ana María Nuñez-Negrillo Alejandra Carvajal Yolanda Morgado Daniel Arteaga Rosa Ufano Pablo Mir Juan F.Gamella Joaquín Dopazo Carmen Paradas Macarena Cabrera-Serrano instituto de Biomedicina de Sevilla(IBiS) Hospital Universitario Virgen del Rocío/CSIC/Universidad de SevillaSevillaSpain Centro Investigación Biomédica en Red Enfermedades Neurodegenerativas(CIBERNED) Instituto de Salud CarlosⅢSevillaSpain Plataforma Andaluza de Medicina computacional Fundación Progreso y Salud(FPS)Hospital Virgen del RocíoSevillaSpain Grupo de medicina computacional de sistemas Instituto de Biomedicina de Sevilla(IBiS)Hospital Virgen del RocíoSevillaSpain Nodo de Genómica Funcional (INB-ELIXIR-es)Fundación Progreso y Salud(FPS)Hospital Virgen del RocíoSevilla 41013Spain Bioinformática en Enfermedades raras(BiER) Centro de Investigación Biomédica en Red de Enfermedades Raras(CIBERER)Instituto de salud CarlosⅢSevillaSpain departamento de Ingeniería de computadores Automática y RobóticaUniversidad de GranadaGranadaSpain Servicio de Urgencias de Atención Primaria Distrito SevillaSevillaSpain Centro de Servicios Sociales Negociado de Servicios EspecializadosAyuntamiento de SevillaSevillaSpain departamento de Enfermería Facultad de Ciencias de la SaludUniversidad de GranadaGranadaSpain departamento de Neurología Hospital Virgen de las NievesGranadaSpain departamento de Neurología Hospital Virgen de ValmeSevillaSpain Centro de Salud Utrera Sur SevillaSpain Centro de Salud Polígono Sur SevillaSpain Unidad de Trastornos del Movimiento Servicio de Neurología y Neurofisiología ClínicaHospital Universitario Virgen del RocíoSevillaSpain departamento de Medicina Facultad de MedicinaUniversidad de SevillaSevilleSpain departamento de Antropología Social Universidad de GranadaSpain Unidad Enfermedades Neuromusculares Servicio de Neurología y Neurofisiología ClínicaHospital Universitario Virgen del RocíoSevillaSpain

In recent years,the number of known disease genes has exponentially grown due to the widespread adoption of cost-effective massive parallel *** identify new disease variants,especially in monogenic disorders,a frequen... 详细信息

关键词： Server filtering massive

Super modules-based active QR codes for smart trackability and IoT:a responsive-banknotes case study

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npj Flexible Electronics 2020年第1期4卷 93-101页

作者： João F.C.B.Ramalho Sandra F.H.correia Lianshe Fu Lília M.S.Dias Pedro Adão Paulo Mateus Rute A.S.Ferreira Paulo S.André department of Physics and CICEco-Aveiro Institute of Materials University of Aveiro3810-193 AveiroPortugal department of computer Science and Engineering and instituto de telecomunicações Instituto Superior TécnicoUniversidade de Lisboa1049-001 LisbonPortugal department of Mathematics and instituto de telecomunicações Instituto Superior TécnicoUniversidade de Lisboa1049-001 LisbonPortugal department of Electrical and computer Engineering and instituto de telecomunicações Instituto Superior TécnicoUniversidade de Lisboa1049-001 LisbonPortugal

The general use of smartphones assigns additional relevance to QR codes as a privileged tool to the Internet of Things(IoT).Crucial for QR codes is the evolution to IoT-connected smart tags with enhanced storage capacity and secure *** the concept of super-modules(s-modules)built from adjacent spatial multiplexed modules with regular geometrical shapes,assisted by colour multiplexing,we modelled and design a single QR code with,at least,the triple storage capacity of an analogous size black/white QR code,acting as a smart-tag ensuring restrict access and *** s-modules are printed using luminescent low-cost and eco-friendly inks based on organic-inorganic hybrids modified by lanthanides with multiplexed colour emission in the orthogonal RGB *** access to the restrict information is attained only under UV irradiation and encrypted for secure *** concept of active QR codes for smart trackability and IoT was materialised through the development of a free friendly-user mobile app.

关键词： IoT smart modules

Alpha-1 antitrypsin deficiency and Pi*Z allele as important co-factors in the development of liver fibrosis

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World Journal of Hepatology 2024年第8期16卷 1099-1110页

作者： Ana Isabel Ferreira Catarina Guimarães Vitor Macedo Silva Sofia Xavier Joana Magalhães Josécotter department of Gastroenterology Hospital da Senhora da Oliveira-GuimarãesGuimarães 4835-044Portugal Life and Health Sciences Research Institute School of MedicineUniversity of MinhoBraga 4710-057Portugal Life and Health Sciences Research Institute/3B’s PT Government Associate LaboratoryBraga 4710-057Portugal department of Pulmonology Hospital Senhora da Oliveira-GuimarãesGuimarães 4835-044Portugal

BACKGROUND Alpha-1 antitrypsin deficiency(AATD)is a codominant autosomal hereditary condition that predisposes patients to the development of lung and/or liver disease,and Pi*Z allele is the most clinically relevant *** To evaluate the impact of clinical parameters and AATD phenotypes,particularly the Pi*Z allele,in liver *** Cross-sectional cohort study including consecutive patients with AATD followed in Pulmonology or Hepatology *** Included 69 patients,49.3%had Pi*MZ phenotype and 10.1%Pi**** age≥55 years,age at diagnosis≥41 years and AAT at diagnosiscoholic fatty liver disease fibrosis score(NFS)not excluding advanced fibrosis[area under the curve(AUC)=0.840,Pdex of moderate to advanced fibrosis(AUC=0.831,Pes mellitus(DM),dyslipidaemia,metabolic syndrome,and regular alcohol consumption were more likely to have a NFS not excluding advanced fibrosis(Pes more likely to have liver stiffness measurement≥7.1 kPa(P=0.040).coNCLUSION Risk factors for liver disease in AATD included an age≥50 years,age at diagnosis≥41 years,metabolic risk factors,regular alcohol consumption,at least one Pi*Z allele,and AAT value at diagnosisconsultation.

关键词： Alpha-1 antitrypsin deficiency Liver fibrosis Nonalcoholic fatty liver disease fibrosis score Fibrosis-4 index Liver stiffness measurement

碳基材料的Z型和S型异质结光催化清洁能源综述

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新型炭材料（中英文） 2024年第3期39卷 458-482页

作者： Sahil Rana Amit Kumar WANG Tong-tong Gaurav Sharma Pooja Dhiman Alberto García-Penas International Research Centre of Nanotechnology for Himalayan Sustainability(IRCNHS) Shoolini UniversitySolan173229India 西安建筑科技大学交叉创新研究院西安710055 departamento de Ciencia e Ingeniería de Materiales e Ingeniería Química(IAAB) Universidad Carlos Ⅲ de MadridLegan'es28911Spain

碳纳米管/纳米纤维、石墨烯、氧化石墨烯、还原氧化石墨烯、石墨炔、碳量子点和富勒烯等炭材料因具有高导电性、优异的稳定性和生物相容性等独特性能,近年来受到广泛关注。在炭材料中构建Z型和S型异质结已成为在能量转换应用中提高光催... 详细信息

碳纳米管/纳米纤维、石墨烯、氧化石墨烯、还原氧化石墨烯、石墨炔、碳量子点和富勒烯等炭材料因具有高导电性、优异的稳定性和生物相容性等独特性能,近年来受到广泛关注。在炭材料中构建Z型和S型异质结已成为在能量转换应用中提高光催化效率的一种有效策略。本文综述了光催化制氢和co_(2)还原等清洁能源的基本原理,阐述了它们各自的机理和优势。此外,还讨论了不同类型的炭材料以及其中Z型和S型异质结的合成和构建,强调了它们在促进电荷分离、减少光生载流子复合损失和扩大光谱响应范围方面的作用。以太阳能燃料生产为重点,讨论和总结了碳基Z型和S型异质结在光催化制氢和还原co_(2)方面的最新进展。最后,讨论了目前碳基光催化剂领域的瓶颈和挑战,并对该领域的未来发展提出了有价值的见解。

关键词：炭材料异质结 Z型 S型光催化氢能材料

OFDM-WDM LR-PON with ultra-bendable fiber for last-mile distribution of quintuple-play service

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Chinese Optics Letters 2013年第8期11卷 18-23页

作者： Tiago M. F. Alves Rakesh Sambaraju Adolfo V. T. Cartaxo Anthony Ng'oma instituto de telecomunicao es Department of Electrical and Computer Engineering Instituto Superior Tcnico Technical University of Lisbon1049-001 Lisbon Portugal Science and Technology department Corning Incorporated One Riverfront PlazaCorning NY 14831 USA

The provision of quintuple-play services along wavelength division multiplexed （WDM） long-reach passive optical networks （LR-PONs） employing an ultra-bendable fiber in last-mile distribution is demonstrated experimentally. Particularly, the simultaneous transmission of three 100-GHz-spaced optical channels for the provision of double sideband orthogonal frequency-division multiplexing （OFDM） wireless and wired quintuple-play services to the premises of users located at 75, 85, and 100 km away from the central office is demonstrated. The OFDM-WDM LR-PON is tested considering the last-mile fiber distribution suffering from severe bending conditions without optical dispersion compensation. The experiments are performed for a worst last-mile fiber bending case emulated by considering a corning ClearCurve fiber experiencing 20 bends and a bend radius of 7.5 mm. All the OFDM signals received at the premises of users present error vector magnitude （EVM） levels compliant with the EVM thresholds of the corresponding standards. An EVM degradation in the OFDM signals received by each user not exceeding 0.8 dB due to the last-mile distribution fiber is achieved.

关键词： WDM PON OFDM-WDM LR-PON with ultra-bendable fiber for last-mile distribution of quintuple-play service LR

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Real-time ultra-wideband video streaming in long-reach passive optical networks with wireless radiation in the 10 and 60 GHz bands

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Chinese Optics Letters 2013年第10期11卷 33-38页

作者： Tiago M.F.Alves Maria Morant Adolfo V.T.Cartaxo Roberto Llorente Pierre Cluzeaud Rakesh Sambaraju instituto de telecomunica co es Department of Electrical and Computer EngineeringInstituto Superior T'ecnico Universidade de Lisboa 1049-001 Lisbon Portugal Nanophotonics Technology Centre Universitat Polit`ecnica de Val`encia 46022 Valencia Spain THALes communications Gennevilliers France Science and Technology department Corning Incorporated One Riverfront Plaza Corning NY 14831 USA

Real-time video streaming using ultra-wideband(UWB) technology is experimentally demonstrated along long-reach passive optical networks(LR-PONs) with different wired and wireless reaches. Experimental tests using external and direct modulation with UWB wireless radiation in the 10- and 60-GHz bands are performed. An ultra-bendable fiber is also considered for a last-mile distribution. The video quality at the output of the optical fiber infrastructure of the LR-PON is assessed using the error vector magnitude(EVM), and the link quality indicator(LQI) is used as a figure of merit after wireless radiation. An EVM below –17 dB is achieved for both externally and directly modulated LR-PONs comprising up to 125 km of optical fiber. EVM improvement is observed for longer LR-PONs when directly modulated lasers(DMLs) are used because of the amplitude gain provided by the combined effect of dispersion and DML's chirp. compared with optical back-to-back operation, the LQI level degrades to the maximum around 20% for LR-PONs ranging between 75 and 125 km of fiber reach and with a wireless coverage of 2 m in the 10-GHz UWB band. The same level of LQI degradation is observed using the 60-GHz UWB band with a LR-PON integrating 101 km of access network, a last-mile distribution using ultra-bendable fiber, and a 5.2-m wireless link.

关键词： PON LR LQI Real-time ultra-wideband video streaming in long-reach passive optical networks with wireless radiation in the 10 and 60 GHz bands EVM UWB OFDM time

Gain and ultrafast optical switching in PMMA optical fibers and films doped with luminescent conjugated polymers and oligomers

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Frontiers of Optoelectronics 2010年第1期3卷 45-53页

作者： Ana CHARAS Ana L.MENDON?A Jenny CLARK Juan CABANILLAS-GONZALEZ Luca BAZZANA Alessandro NOCIVELLI Guglielmo LANZANI Jorge MORGADO instituto de telecomunica??es department of Chemical and Biological Engineering Instituto Superior Técnico department of Physics Politecnico di Milano Luceat S.p.A.

conjugated luminescent polymers and oligomers, exhibiting stimulated emission(SE), are dispersed in polymethylmethacrylate(PMMA), films and optical fibers,either by blending or upon copolymerisation. With this PMMA doping, we aim to achieve gain and ultrafast optical switching. The modification of the dopant's chemical structure allows the tuning of the SE spectral region. Furthermore, we aim to achieve dopant chain isolation while maximising their concentration. In this paper, we present an overview of the research done in this area in the context of the European Union(EU)-funded research project “plastic optical fibers with embedded active polymers for data communications——POLYcoM”.

关键词： plastic optical fibers optical gain and switching conjugated luminescent polymers dopants

Uniform-velocity spacetime crystals

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Advanced Photonics 2019年第5期1卷 17-42页

作者： Zoé-Lise deck-Léger Nima Chamanara Maksim Skorobogatiy Mário G.Silveirinha Christophe Caloz Polytechnique Montréal Department of Electrical EngineeringMontréalQuebecCanada Polytechnique Montréal Department of Engineering PhysicsMontréalQuebecCanada Universidade de Lisboa-instituto Superior Técnico and instituto de telecomunicações Department of Electrical EngineeringLisbonPortugal

We perform a comprehensive analysis of uniform-velocity bilayer spacetime crystals,combining concepts of conventional photonic crystals and special *** that a spacetime crystal consists of a sequence of spacetime discontinuities,we do this by solving the following sequence of problems:(1)the spacetime interface,(2)the double spacetime interface,or spacetime slab,(3)the unbounded crystal,and(4)the truncated *** these problems,we present the following results:(1)an extension of the Stokes principle to spacetime interfaces,(2)an interference-based analysis of the interference phenomenology,(3)a quick linear approximation of the dispersion diagrams,a description of simultaneous wavenumber and frequency bandgaps,and(4)the explanation of the effects of different types of spacetime crystal truncations and the corresponding scattering *** work may constitute the foundation for a virtually unlimited number of novel canonical spacetime media and metamaterial problems.

关键词： crystals special relativity Lorentz transformations spacetime bandgap structures

Performance Evaluation of Wavelength Division Multiplexing Photonic Analogue-to-Digital converters for High-Resolution Radar Systems

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Optics and Photonics Journal 2019年第12期9卷 219-234页

作者： Pedro E. D. Cruz Tiago M. F. Alves Adolfo V. T. Cartaxo instituto de telecomunicações Lisboa Portugal instituto Universitário de Lisboa (ISCTE-IUL) Lisboa Portugal

The performance of the wavelength division multiplexing (WDM) photonic analogue-to-digital converter (ADC) used for digitization of high-resolution radar systems is evaluated numerically by using the peak signal-to-noise ratio (SNR) metric. Two different WDM photonic ADC architectures are considered for the digitization of radar signals with 5 GHz of bandwidth (spatial resolution of 3 cm), in order to provide a comprehensive study of the compromises present when deploying radar signals with high-resolution: 1) a four-channel architecture with each channel employing an ADC with 5 GSamples/s, and 2) an eight-channel architecture with each channel employing an ADC with 2.5 GSamples/s. For peak powers of the pulsed source between 10 and 20 dBm and a distance between the radar antenna and the sensing object of 2.4 meters, peak SNR levels between 29 and 39 dB are achieved with the eight-channel architecture, which shows higher peak SNR levels when compared with the four-channel architecture. For the eight-channel architecture and for the same peak powers of the pulsed source, peak SNR levels between 11 and 16 dB are obtained when the distance increases to 13.5 meters. With this evaluation using the peak SNR, it is possible to assess the performance limits when choosing a specific radar range, while keeping the same resolution.

关键词： Analogue-to-Digital converter Radar Signal-to-Noise Ratio Wavelength Division Multiplexing