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The Iberian Roma Population Variant Server(IRPVS)

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

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Counting stripes:revision of the lipinia vittigera complex(Reptilia, Squamata, Scincidae) with description of two new species from Indochina

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Zoological Research 2019年第5期40卷 358-393页

作者： Nikolay A. Poyarkov jr. Peter Geissler Vladislav A. Gorin Evgeniy A. Dunayev Timo Hartmann Chatmongkon Suwannapoom Department of Vertebrate Zoology Biological Faculty Lomonosov Moscow State University Moscow 119991 Russia Joint Russian-Vietnamese Tropical Research and Technological Center Nghia Do Cau Giay Hanoi Vietnam Museum Natur und Mensch Freiburg 79098 Germany Zoological Museum Moscow State University Moscow 125009 Russia Zoological Research Museum Alexander Koenig Bonn 53113 Germany School of Agriculture and Natural Resources University of Phayao Phayao 56000 Thailand

we provide an integrative taxonomic analysis of the lipinia vittigera species complex from mainland Southeast Asia. Based on examination of external morphology, color pattern, and 681 base pairs of the cytochrome oxidase subunit I (COI) mitochondrial gene, we demonstrate the presence of four morphologically distinct lineages of lipinia in Vietnam, Cambodia, Thailand, and Malaysia, showing a sequence divergence ranging 15.5%–20.4%. All discovered lineages are discretely diagnosable from one another by a combination of scalation traits and color patterns. A review of the published distribution data and a re-examination of available type material revealed the following results:(1) distribution of l. vittigera (Boulenger, 1894) sensu stricto is restricted to Sundaland and the Thai-Malay Peninsula south of the Isthmus of Kra;(2) l. microcercus (Boettger, 1901) stat. nov. is elevated to full species rank;the species has a wide distribution from central and southern Vietnam across Cambodia to eastern Thailand;we regard lygosoma vittigerum kronfanum Smith, 1922 and leiolopisma pranensis Cochran, 1930 as its junior synonyms;(3) lipinia trivittata sp. nov. occurs in hilly areas of southern Vietnam, Cambodia, and eastern Thailand;and (4) lipinia vassilievi sp. nov. is currently known only from a narrow area along the Vietnamese-Cambodian border in the foothills of the central Annamite Mountain Range. we further provide an identification key for lipinia occurring in mainland Southeast Asia.

关键词： lipinia microcercus stat. nov. lipinia trivittata sp. nov. lipinia vassilievi sp. nov. Vietnam, Thailand, Cambodia Biogeography mtDNA COI-barcoding

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Osteoarticular lesions of the Shoulder Girdle by Hippopotamus Bite: Highly Septic lesion

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Open Journal of Orthopedics 2024年第2期14卷 114-121页

作者： jr.Pierre Germain Ochou Achié Jean Régis Akobe Yao Aboh Ganyn Robert Arnaud Assere Kouamé Jean-Eric Kouassi Adelaïde Aya Natacha Kouassi Ibrahim Soumahoro Zolopégué Marcel Soro Sédi loues De Randolphe Akpro Gbalé Yannick Blé Kouamé Innocent M’bra loukou Blaise Yao Bada Juste léopold NiaoréSery Koffi léopold Krah Michel Kodo Department of Orthopaedic and Traumatological Surgery Bouaké University Hospital Bouaké Ivory Coast Raoul Follereau Institute Manikro Centre Bouaké Ivory Coast

Hippopotamus bites are rare in medical consultations, despite several studies exposing their aggressive character. A case of a hippopotamus bite on the shoulder of a fisherman has been reported. In addition to the osteoarticular aspect representing a therapeutic problem, the infectious aspect was marked by sepsis, with a death in less than 48 hours. Based on this observation, a protocol for the initial management of large animal bites was submitted.

关键词： Bite Hippopotamus Septic Shock

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Real-Time Mesoscale Forecast Support During the ClAMS Field Campaign

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Advances in Atmospheric Sciences 2007年第4期24卷 599-605页

作者：王东海 P. MINNIS T. P. CHARlOCK D. K. ZHOU F. G. ROSE w. l. SMITH w. l. SMITH jr.l. NGUYEN State Key laboratory of Severe weather Chinese Academy of Meteorological Sciences Beijing 100081 Center for Atmospheric Sciences Hampton University Hampton Virginia langley Research Center National Aeronautics and Space Administration Hampton Virginia Analytical Services ＆ Materials Inc. Hampton Virginia

This paper reports the use of a specialized, mesoscale, numerical weather prediction （NwP） system and a satellite imaging and prediction system that were set up to support the ClAMS （Chesapeake lighthouse and Aircraft Measurements for Satellites） field campaign during the summer of 2001. The primary objective of ClAMS was to validate satellite-based retrievals of aerosol properties and vertical profiles of the radiative flux, temperature and water vapor. Six research aircraft were deployed to make detailed coincident measurements of the atmosphere and ocean surface with the research satellites that orbited overhead. The mesoscale weather modeling system runs in real-time to provide high spatial and temporal resolution for forecasts that are delivered via the world wide web along with a variety of satellite imagery and satellite location predictions. This system is a multi-purpose modeling system capable of both data analysis/assimilation and multi-scale NwP ranging from cloud-scale to larger than regional scale. This is a three-dimensional, non-hydrostatic compressible model in a terrain-following coordinate. The model employs advanced numerical techniques and contains detailed interactive physical processes. The utility of the forecasting system is illustrated throughout the discussion on the impact of the surface-wind forecast on BRDF （Bidirectional Reflectance Distribution Function） and the description of the cloud/moisture forecast versus the aircraft measurement.

关键词： ClAMS field campaign mesoscale numerical weather prediction forecast support

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Cytoplasm Has No Effect on the Yield and Quality of Biomass Sorghum Hybrids

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Journal of Sustainable Bioenergy Systems 2013年第2期3卷 129-134页

作者： leo Hoffmann jr. w.l.iam l. Rooney Department of Soil and Crop Sciences Texas A & M University College Station USA

The development of the biomass sorghum hybrid seed industry is contingent on the use of cytoplasmic male sterility. within sorghum, there are several different cytoplasmic male sterility systems and it is important to determine early in development if cytoplasm w.l. affect agronomic performance or composition characters. Thus, if there is a difference, then the best system can be deployed. The purpose of this study was to determine if cytoplasm per se influences agronomic performance of biomass sorghum using a set of iso-cytoplasmic hybrids. Three hybrid genotypes were produced in three different cytoplasms (A1, A2, and A3) for a total of nine hybrids. These hybrids were evaluated for plant height, biomass yield, and biomass composition in three Texas environments (weslaco, College Station, and Halfway) in 2010. Across environments, significant differences existed among hybrids for both agronomic and compositional traits, but cytoplasm per se had no effect on any measured trait. Since cytoplasm did not effect on hybrid performance, any of the tested cytoplasms (A1, A2, and A3) can be deployed in hybrid biomass sorghums.

关键词： Near Infrared Spectroscopy Photoperiod Sensitive Cytoplasm

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Racial/ethnic disparities in hepatocellular carcinoma treatment and survival in California, 1988-2012

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world Journal of Gastroenterology 2016年第38期22卷 8584-8595页

作者： Susan l Stewart Sandy l Kwong Christopher l Bowlus Tung T Nguyen Annette E Maxw.l. Roshan Bastani Eric w Chak Moon S Chen jr Division of Biostatistics Department of Public Health SciencesUniversity of CaliforniaDavis School of Medicine Sacramenio CA 95817 United States California Department of Public Health Sacramenio CA 95817 United States Tung Division of Gastroenterology and Hepatology Department of Internal MedicineUniversity of CaliforniaDavis School of Medicine Sacramenio CA 95817 United States Division of General Internal Medicine University of California San Francisco CA 94101 United States UClA Kaiser Permanente Center for Health Equity Fielding School of Public Health and Jonsson Comprehensive Cancer CenterUniversity of California Los Angeles CA 90095 United States Division of Hematology and Oncology Department of Internal MedicineUniversity of CaliforniaDavis School of MedicineSacramento CA 95817 United States Cancer Control/Cancer Health Disparities University of CaliforniaDavis Comprehensive Cancer CenterSacramento CA 95817 United States

AIM To describe racial/ethnic differences in treatment and survival among liver cancer patients in a populationbased cancer *** Invasive cases of primary hepatocellular carcinoma, n = 33270, diagnosed between January 1, 1988-December 31, 2012 and reported to the California Cancer Registry were analyzed by race/ethnicity, age, gender, geographical region, socio-economic status, time period of diagnosis, stage, surgical treatment, and survival. Patients were classified into 15 racial/ethnic groups: non-Hispanic white(white, n = 12710), Hispanic(n = 8500), Chinese(n = 2723), non-Hispanic Black(Black, n = 2609), Vietnamese(n = 2063), Filipino(n = 1479), Korean(n = 1099), Japanese(n = 658), American Indian/Alaskan Native(AIAN, n = 281), laotian/Hmong (n = 244), Cambodian(n = 233), South Asian(n = 190), Hawai`ian/Pacific Islander(n = 172), Thai(n = 95), and Other Asian(n = 214). The main outcome measures were receipt of surgical treatment, and cause-specific and all-cause *** After adjustment for socio-demographic characteristics, time period, and stage of disease, compared to whites, laotian/Hmong [odds ratio(OR) = 0.30, 95%CI: 0.17-0.53], Cambodian(OR = 0.65, 95%CI: 0.45-0.96), AIAN(OR = 0.66, 95%CI: 0.46-0.93), Black(OR = 0.76, 95%CI: 0.67-0.86), and Hispanic(OR = 0.78, 95%CI: 0.72-0.84) patients were less likely, whereas Chinese(OR = 1.58, 95%CI: 1.42-1.77), Koreans(OR = 1.45, 95%CI: 1.24-1.70), Japanese(OR = 1.41, 95%CI: 1.15-1.72), and Vietnamese(OR = 1.26, 95%CI: 1.12-1.42) were more likely to receive surgical treatment. After adjustment for the same covariates and treatment, cause-specific mortality was higher for laotian/Hmong [(hazard ratio(HR) = 1.50, 95%CI: 1.29-1.73)], Cambodians(HR = 1.35, 95%CI: 1.16-1.58), and Blacks(HR = 1.07, 95%CI: 1.01-1.13), and lower for Chinese(HR = 0.82, 95%CI: 0.77-0.86), Filipinos(HR = 0.84, 95%CI: 0.78-0.90), Vietnamese(HR = 0.85, 95%CI: 0.80-0.90), Koreans(HR = 0.90, 95%CI: 0.83-0.97), and Hispanics(H

关键词： Disparities Treatment Survival liver cancer Hepatocellular carcinoma

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Development of high-coercivity state in melt-spun Fe41Pd41B8Si6P4 ribbons

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Rare Metals 2020年第1期39卷 76-83页

作者： Oksana Aleksandrovna Golovnia Nina Ivanovna Vlasova Aleksandr Gervasievich Popov Vasiliy Semenovich Gaviko Vladimir Vladimirovich Popov jr. Andrey Vladimirovich Protasov Arti Kashyap M.N.Miheev Institute of Metal Physics of Ural Branch of Russian Academy of Sciences EkaterinburgRussia620990 Institute of Natural Sciences and Mathematics Ural Federal UniversityEkaterinburgRussia620002 Israel Institute of Metals Technion R&D FoundationTechnion City3200003HaifaIsrael Indian Institute of Technology Mandi KamandMandiHP175005India

The phase transformation and magnetic hysteresis properties of melt-spun Fe41 Pd41 B8 Si6 P4 ribbons subjected to the annealing at temperatures of 500-550℃were studied after holding for 0.1-60.0 h by transmission electron microscopy(TEM),X-ray diffraction(XRD)and thermomagnetic *** additions of P,B and Si to the FePd alloy allowed us to achieve the coercivity of124 kA·m-1,which is 2.6 times higher than that of the melt-spun ribbons of the binary equiatomic FePd *** high-coercivity Fe41Pd41B8 Si6 P4 alloy is nanocrystalline and is composed of the ordered l10-phase grains approximately 40 nm in size and inclusions of the Fe2(P,B)and Pd2(Si,B)*** coercivity kinetics is controlled by the phase transformation which can be divided into three stages:transformation from the bcc structure to nanosized regions of the fee and Fe2 P phases;transformation from the fee to l10 nanosized regions with somewhat different degrees of tetragonality and their ordering;and extensive growth of the weight fraction of l10 phase from the fee nanosized regions.P and B atoms occupy interstitial sites in the iron plane of l10 lattice,thus decreasing its Curie temperature(TC).

关键词： Fe-Pd-P-B-Si Melt spinning l10 Nanostructured materials Phase transformation Magnetic measurements

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Astigmatic correction with implantation of a light adjustable vs monofocal lens: a single site analysis of a randomized controlled trial

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International Journal of Ophthalmology(English edition) 2019年第7期12卷 1101-1107页

作者： Majid Moshirfar w.l.iam D.wagner Steven H.linn David F.Skanchy Tanner w.Brown Aaron T.Gomez Jackson l.Goldberg Yasmyne C.Ronquillo Phillip C.Hoopes jr. HDR Research Center Hoopes VisionDraper UT 84020USA John A. Moran Eye Center Department of Ophthalmology and Visual SciencesUniversity of Utah School of MedicineSalt Lake CityUT 84132USA Utah lions Eye Bank MurrayUT 84107USA Virginia Commonwealth University School of Medicine RichmondVA23298USA McGovem Medical School at the University of Texas Health Science Center HoustonTX77030USA The University of Texas Rio Grande Valley School of Medicine EdinburgTX78539USA

AIM: To evaluate the light adjustable lens(lAl) vs a standard monofocal lens in achieving target astigmatic refraction and improving postoperative uncorrected distance visual acuity(UDVA). METHODS: This randomized controlled clinical trial included 40 patients with pre-existing astigmatism and visually significant cataract. Twenty-eight patients received the lAl and 12 control patients received a monofocal intraocular lens(IOl) after cataract extraction at a single institution. The patients with the lAl underwent adjustment by ultraviolet(UV) light postoperatively plus subsequent lock-in procedures and all patients returned to clinic for follow up of study parameters at 6, 9, and 12 mo. Manifest refraction, distance visual acuity, and adverse events were recorded at each ***: The mean cylinder before adjustment in eyes with the lAl was-0.89±0.58 D(-2.00 to 0.00 D) and-0.34±0.34 D(-1.25 to 0.00 D) after lock-in(P=1.68 x10-8). The mean cylinder in patients with the monofocal lens was-1.00±0.32 D(-1.50 to-0.50 D) at 17-21 d postoperatively, which was statistically different from the lAl cylinder postlock-in(P=1.43 x10-6). UDVA in the lAl group was 20/20 or better in 79% of patients post lock-in with good stability over 12 mo compared with 33% of the control patients with UDVA of 20/20 or better. CONClUSION: These results demonstrate that the lAl is more effective in achieving target refractions and improving postoperative UDVA in patients with pre-existing corneal astigmatism than a standard monofocal lens.

关键词： light adjustable lens monofocal lens astigmatism cataract

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The　Enhancement　of　Fluorescence　of　The　Squaraine　Dye　lB　Films　by　Overcoating　of　Glycolipids

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Chinese Chemical letters 1996年第10期7卷 935-938页

作者： li, jr.Fan, CY li, BF Jiang, l ACAD SINICA INST PHOTOG CHEMBEIJING 100101PEOPLES R CHINA

The influence of overcoating layers of dialkylglycerylether-β-glucosides(A)1,2O-dialkylglycerylethers(B) and arachidic acid (C20) on the fluorescence of the squaraine dye(SQ) and C20 mixed film were investigated by fluorescence and time-resolved fluorescence measurements. An apparent increase in fluorescence intensity for three layer mixed film of SQ and C20 were obtained by overcoating A in comparison with the small change fluorescence intensity for SQ dye mixed film by overcoating B or C20.

关键词： SQUARYlIUM DYE

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Role of CFTR mutation analysis in the diagnostic algorithm for cystic fibrosis

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world Journal of Pediatrics 2017年第2期13卷 129-135页

作者： Michelle Ratkiewicz Matthew Pastore Karen Sharrock McCoy Rohan Thompson Don Hayes jr. Shahid Ijaz Sheikh Departments of Pediatrics the Ohio State University College of Medicine ColumbusOhioUSA Section of Pulmonary Medicine Nationwide Children's HospitalColumbusOhioUSA Departments of Pediatrics the Ohio State University College of Medicine ColumbusOhioUSA Section of Human and Molecular Genetics Nationwide Children's HospitalColumbusOhioUSA Departments of Pediatrics the Ohio State University College of Medicine ColumbusOhioUSA Internal Medicine the Ohio State University College of Medicine ColumbusOhioUSA Section of Pulmonary Medicine Nationwide Children's HospitalColumbusOhioUSA

Background:The cystic fibrosis transmembrane conductance regulator (CFTR) gene mutation identification is being used with increased frequency to aid in the diagnosis of cystic fibrosis (CF) in those suspected with *** of this study was to identify diagnostic outcomes when CFTR mutational analysis was used in CF *** mutational analysis results were also compared with sweat chloride ***:This study was done on all patients at our institution who had CFTR mutation analysis over a sevenyear period since August ***:A total of 315 patients underwent CFTR mutational ***-one (16.2%) patients had two mutations *** them 32 had positive sweat chloride levels (≥60 mmol/l),while seven had borderline sweat chloride levels (40-59 mmol/l).An additional 70 patients (22.3%) had only one mutation *** them eight had positive sweat chloride levels,and 17 had borderline sweat chloride ***-five patients (17.5%) without CFTR mutations had either borderline (n=45) or positive (n=10) sweat chloride *** patients with a CF phenotype had negative CFTR analysis but elevated sweat chloride *** eighty-three patients (26.4%) CFTR mutational analysis was done without corresponding sweat chloride ***:Although CFTR mutation analysis has improved the diagnostic capability for CF,its use either as the first step or the only test to diagnose CFTR dysfunction should be discouraged and CF diagnostic guidelines need to be followed.

关键词： CFTR cystic fibrosis sweat chloride

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