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Phenotypical Aspects of a Familial Syndromic Retinitis Pigmentosa

Open Journal of Ophthalmology 2024年第2期14卷 168-173页

作者： Irma Eneida dos santos Joseph Matar Mass Ndiaye Mariama Diambone Badji Alioune Abdoulaye Ndongo Gerauld Akpo Jean Pierre Diagne Gabriel Karold Mendy Mouhamed Attye Aboubacry Sadikh Sow Elhadji Amadou Ba Paule Aida Ndoye Roth Ophthalmology Department of Aristide Le Dantec Hospital Dakar Senegal Pediatric Department of Aristide Le Dantec Hospital Dakar Senegal Radiological Imaging Department of Aristide Le Dantec Hospital Dakar Senegal Ophthalmology Department of Abass Ndao Hospital Dakar Senegal

Aim: To report a familial case of syndromic retinitis pigmentosa identified at Aristide Le Dantec Hospital in Dakar and to describe their clinical characteristics ophthalmic. Observation: We report a sibling group of nine children, four died at a young age from unknown causes. Three children were affected by retinitis pigmentosa, two cases were syndromic. A history of nyctalopia was found in all three affected children. The mean age of onset of decreased visual acuity was 6.6 years. Patient 1 affected by syndromic retinitis pigmentosa had an extraocular sign of cystic dilation of the main bile duct. Patient 2 had myoclonic epilepsy, psychomotor retardation, and the molar tooth sign on cerebral MRI (highly suggestive of Joubert syndrome). The third child had isolated retinitis pigmentosa. Ophthalmological examinations (fundus examination, electroretinogram, and visual evoked potentials) and pediatric examinations in the remaining two children were normal. Discussion and Conclusion: Retinitis pigmentosa is a rare degenerative disease that can be associated with several other malformations, highlighting the importance of screening for associated conditions. It presents a grim functional prognosis and a life prognosis dependent on extraocular manifestations. Molecular biology (karyotyping, next-generation sequencing) could have identified the implicated genes and allowed for a formal diagnosis and genetic counseling.

关键词： Retinitis Pigmentosa Syndromic Heredity Ciliopathy

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Is magnesium deficiency the major cause of needle chlorosis of Pinus taeda in Brazil?

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Journal of Forestry Research 2024年第2期 213-225页

作者： Ant?nio Carlos Vargas Motta Shizuo Maeda Valdécio dos santos dos santos Rodrigues Tamires Maiara Ercole Stephen Arthur Prior Ana Elisa Lyra Brumat Amanda Pacheco Cardoso Moura Julierme Zimmer Barbosa Jo?o Bosco Vasconcellos Gomes Department of Soil Sciences and Agriculture Engineering Federal University of Paraná Brazilian Agricultural Research Company Embrapa Florestas 3. United States Department of Agriculture-Agricultural Research Service USDA-ARS National Soil Dynamics Laboratory 4. Reforestation Remasa 5. Federal Institute of Southeast of Minas Gerais

Needle chlorosis(NC) in Pinus taeda L. systems in Brazil becomes more frequent after second and third harvest rotation cycles. In a study to identify factors contributing to yellowing needle chorosis(YNC), trees were grown in soils originating from contrasting parent materials, and soils and needles(whole, green and chlorotic portions) from 1-and 2-year-old branches and the first and second needle flush release at four sites with YNC on P. taeda were analyzed for various elements and properties. All soils had very low base levels(Ca2+, Mg2+and K+) and P, suggesting a possible lack of multiple elements. YNC symptoms started at needle tips, then extended toward the needle base with time. First flush needles had longer portions with YNC than second flush needles did. Needles from the lower crown also had more symptoms along their length than those higher in the canopy. Symptoms were similar to those reported for Mg. In chlorotic portions, Mg and Ca concentrations were well below critical values; in particular, Mg levels were only one third of the critical value of 0.3 g kg-1. Collectively, results suggest that Mg deficiency is the primary reason for NC of P. taeda in various parent soils in Brazil.

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Building Expertise on FAIR Through Evolving Bring Your Own Data(BYOD) Workshops: Describing the Data, Software, and Management-focused Approaches and Their Evolution

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Data Intelligence 2024年第2期6卷 429-456页

作者： César H.Bernabé Lieze Thielemans Rajaram Kaliyaperumal Claudio Carta Shuxin Zhang Celia W.G.van Gelder Nirupama Benis Luiz Olavo Bonino da Silva santos Ronald Cornet Bruna dos santos Vieira Nawel Lalout Ines Henriques Alberto Camara Ballesteros Kees Burger Martijn G.Kersloot Friederike Ehrhart Esther van Enckevort Chris T.Evelo Alasdair J.G.Gray Marc Hanauer Kristina Hettne Joep de Ligt Arnaldo Pereira Nuria Queralt-Rosinach Erik Schultes Domenica Taruscio Andra Waagmeester Mark D.Wilkinson Egon L.Willighagen Mascha Jansen Barend Mons Marco Roos Annika Jacobsen Biosemantics Group Department of Human GeneticsLeiden University Medical CentreLeidenThe Netherlands NIHR Academic Fellow in General Practice University College London and The Royal Free NHS Foundation Trust National Centre for Rare Diseases Istituto Superiore di SanitaRomeItaly Department of Medical Informatics Amsterdam UMC location University of AmsterdamMeibergdreef 9AmsterdamThe Netherlands Amsterdam Public Health Methodology&Digital HealthAmsterdamThe Netherlands Health-Rl UtrechtThe Netherlands Semantics Services and Cybersecurity groupUniversity of TwenteEnschedeThe Netherlands Department of Medical Imaging Radboud Institute for Health SciencesRadboud University Medical CenterNijmegenThe Netherlands Department of Medical BioSciences Radboud University Medical CenterNijmegenThe Netherlands The Duchenne Parent Project VeneendaalThe Netherlands Departamento de Biotecnologia-Biologia Vegetal Escuela Tecnica Superior de Ingenieria AgronomicaAlimentaria y de BiosistemasCentro de Biotecnologia y Genomica de PlantasUniversidad Politecnica de Madrid(UPM)-Instituto Nacional de Investigacion y Tecnologia Agraria y Alimentaria-CSIC(INIA-CSIC).Campus MontegancedoPozuelo de Alarcon(Madrid)Spain Castor AmsterdamThe Netherlands Department of Bioinformatics-BiGCaT Maastricht UniversityMaastrichtThe Netherlands University Medical Center Groningen University of GroningenGroningenThe Netherlands Maastricht Centre for Systems Biology(MaCSBio) Maastricht UniversityMaastrichtThe Netherlands Department of Computer Science Heriot-Watt UniversityEdinburghUK INSERM US14-OrphanetPlateforme Maladies RaresParisFrance Centre for Digital Scholarship Leiden University LibrariesThe Netherlands Center for Molecular Medicine Cancer Genomics NetherlandsDepartment of GeneticsUniversity Medical Center UtrechtUniversity UtrechtThe Netherlands University of Aveiro DETI/IEETAAveiroPortugal GO FAIR Foundation LeidenThe Netherlands The Leiden Academic Center for Drug Research LeidenThe Netherlands Micel

Since 2014,"Bring Your Own Data"workshops(BYODs)have been organised to inform people about the process and benefits of making resources Findable,Accessible,Interoperable,and Reusable(FAIR,and the FAIRification process).The BYOD workshops'content and format differ depending on their goal,context,and the background and needs of ***-focused BYODs educate domain experts on how to make their data FAIR to find new answers to research ***-focused BYODs promote the benefits of making data FAIR and instruct project managers and policy-makers on the characteristics of FAIRification ***-focused BYODs gather software developers and experts on FAIR to implement or improve software resources that are used to support ***,these BYODs intend to foster collaboration between different types of stakeholders involved in data management,curation,and reuse(*** experts,trainers,developers,data owners,data analysts,FAIR experts).The BYODs also serve as an opportunity to learn what kind of support for FAIRification is needed from different communities and to develop teaching materials based on practical examples and *** this paper,we detail the three different structures of the BYODs and describe examples of early BYODs related to plant breeding data,and rare disease registries and biobanks,which have shaped the structure of the *** discuss the latest insights into making BYODs more productive by leveraging our almost ten years of training experience in these workshops,including successes and encountered ***,we examine how the participants'feedback has motivated the research on FAIR,including the development of workflows and software.

关键词： FAIR FAIRification FAIR expertise Bring Your Own Data Workshop BYOD

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ProTSA: A Testing Process for Automotive Software Domain

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Journal of Software Engineering and Applications 2024年第7期17卷 571-615页

作者： Renato Rafael Arcanjo Luiz Eduardo Galvão Martins Dirceu Lavoiser fernandes Graci Department of Inovation and Science Federal University of Sao Paulo (UNIFESP) Sao Jose dos Campos Brazil Department of Automotive Electronics Faculty of Technology of Sao Paulo (Fatec) Santo Andre Brazil

This study evaluates the development of a testing process for the automotive software domain, highlighting challenges stemming from the absence of adequate processes. The research demonstrates the application of Design Science Research methodology in developing, an automotive software testing process—ProTSA, using six functional testing modules. Additionally, the study evaluates the benefits of implementing ProTSA in a specific Original Equipment Manufacturer (OEM) using an experimental single-case approach with industry professionals’ participation through a survey. The study concludes that combining testing techniques with effective communication and alignment is crucial for enhancing software quality. Furthermore, survey data indicates that implementing ProTSA leads to productivity gains by initiating tests early, resulting in time savings in the testing program and increased productivity for the testing team. Future work will explore implementing ProTSA in cybersecurity, over-the-air software updates, and autonomous vehicle testing processes. .

关键词： Verification and Validation Automotive Software Automotive Systems

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Antimicrobial and synergistic effects of lemongrass and geranium essential oils against Streptococcus mutans,Staphylococcus aureus,and Candida spp.

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World Journal of Critical Care Medicine 2024年第3期13卷 63-74页

作者： Patrícia Michelle Nagai de Lima Thaís Cristine Pereira Lara Steffany de Carvalho Letícia Ferreira dos santos Carlos Eduardo Rocha Oliveira Lucas de Paula Ramos Maria Cristina Marcucci Amjad Abu Hasna Luciane Dias de Oliveira Department of Biosciences and Oral Diagnosis Institute of Science and TechnologySão Paulo State UniversitySão Josédos Campos 12245000SPBrazil Anhembi Morumbi University School of MedicineSão Josédos Campos 12230-002SPBrazil Department of Restorative Dentistry Endodontics DivisionInstitute of Science and TechnologySão Paulo State UniversitySão Josédos Campos 12245000São PauloBrazil

BACKGROUND The oral cavity harbors more than 700 species of bacteria,which play crucial roles in the development of various oral diseases including caries,endodontic infection,periodontal infection,and diverse oral *** To investigate the antimicrobial action of Cymbopogon Schoenanthus and Pelargonium graveolens essential oils against Streptococcus mutans,Staphylococcus aureus,Candida albicans,***,and *** Minimum microbicidal concentration was determined following Clinical and Laboratory Standards Institute *** synergistic antimicrobial activity was evaluated using the Broth microdilution checkerboard method,and the antibiofilm activity was evaluated with the 3-[4,5-dimethylthiazol-2-yl]-2,5 diphenyl tetrazolium bromide *** were analyzed by one-way analysis of variance followed by the Tukey post-hoc test(P≤0.05).RESULTS *** and *** essential oils were as effective as 0.12%chlorhexidine against *** and *** monotypic biofilms after 24 *** 24 h *** essential oil at 0.25%was more effective than the nystatin group,and *** essential oil at 0.25%was as effective as the nystatin *** *** and *** essential oils are effective against ***,***,***,***,and *** at different concentrations after 5 min and 24 h.

关键词： Antifungal effect Lemongrass Geranium Candida albicans Candida dubliniensis Candida krusei Staphylococcus aureus Streptococcus mutans

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全球生活用纸设备供需变化:可持续性、能源节约和数字化

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生活用纸 2024年第5期24卷 43-51页

作者： Jenny Lahti Samuelsson Paolo Raffaelli Shinji Goda Marcelo Marlon Silveira dos santos 彭伟东 Roy Vincent Valter Canelli 维美德生活用纸拓斯克川之江设计部 Hergen工程应用技术部门宝索机械制造有限公司安德里茨北美生活用纸亚赛利纸业

在当前的经济环境下,设备高度灵活性已成为全球产业供应链应对生产时的特点,主要体现为对生产环节的持续监测和先进诊断技术、高效的数据储存、智能自动化、热电联产,以及减碳采购等措施。Tissue World杂志对全球领先的卫生纸机供应商... 详细信息

在当前的经济环境下,设备高度灵活性已成为全球产业供应链应对生产时的特点,主要体现为对生产环节的持续监测和先进诊断技术、高效的数据储存、智能自动化、热电联产,以及减碳采购等措施。Tissue World杂志对全球领先的卫生纸机供应商进行了专访,请他们分别就全球生活用纸市场的可持续能源利用及智能化设备生产技术等话题发表独到见解。

关键词：供需变化可持续能源智能自动化智能化设备数据储存生活用纸卫生纸机能源节约

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Boll weevils in dry bolls:is there a performance disadvantage?

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Journal of Cotton Research 2024年第3期7卷 243-252页

作者： COELHO Beatriz S. LEITE Suzany A. santos Mateus P.dos MATES Eloito C.de MORAES Beatriz M.L.de BASTOS Cristina S. GUEDES Raul N.C. MOREIRA Aldenise A. CASTELLANI Maria A. Departamento de Fitotecnia e Zootecnia Universidade Estadual do Sudoeste da BahiaVitória da ConquistaBA 45031‑900Brazil Faculdade de Agronomia e Veterinária Universidade de BrasíliaBrasíliaDF 70910‑900Brazil Departamento de Entomologia Universidade Federal de ViçosaViçosaMG 36570‑900Brazil Pós‑GraduaCão em Agronomia(Fitotecnia) Universidade Estadual do Sudoeste da BahiaVitória da ConquistaBA 45031‑900Brazil

Background Anthonomus grandis grandis is the main cotton pest in the Americas,with the potential to become a pest in other *** insect uses the plant's reproductive organs for feeding,oviposition,and survival strategies in the off-season,sheltering in dry *** study aimed to know the reproductive potential,feeding,longevity,and morphometric characteristics of boll weevils from dry bolls,squares,and *** were obtained from infested squares,dry bolls,and traps installed in cotton fields and the Caatinga *** weevil pairs were maintained in the laboratory to assess the oviposition,feeding holes,longevity,and morphometric measurements of the parental and F_(1) *** In the parental generation,boll weevils from traps(the Caatinga area and cotton cultivation)showed greater reproductive *** weevils from squares and the Caatinga area showed greater feeding activity compared with those from cotton *** rostrum length,thorax+abdomen length,and abdomen width were observed in boll weevils from cotton cultivation and dry *** origin of boll weevils parental generation did not affect progeny emergence *** F_(1) generation of boll weevils showed significant differences in average longevity depending on the origin of different ***,differences in rostrum lengths were observed,with the boll weevils coming from traps installed in cotton cultivation,the Caatinga area,and dry bolls being the *** thorax+abdomen length and abdomen width,the highest values were observed in those from the Caatinga area and cotton *** It was proven that dry bolls did not affect the reproductive,feeding,and longevity performance of boll weevils,enabling better insect fitness(reproduction and size)in relation to those coming from *** use of dry bolls as off-season shelter is an important survival strategy for the boll weevil.

关键词： Anthonomus grandis grandis Gossypium hirsutum Off-season Survival

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Analysis of 12 variants in the development of gastric and colorectal cancers

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World Journal of Gastroenterology 2017年第48期23卷 8533-8543页

作者： Giovanna C Cavalcante Marcos AT Amador Andre M Ribeiro dos santos Darlen C Carvalho Roberta B Andrade Esdras EB Pereira Marianne R fernandes Danielle F Costa Ney PC santos Paulo P Assumpcao Andrea Ribeiro dos santos Sidney santos Laboratório de Genética Humana e Médica Universidade Federal do Pará Núcleo de Pesquisas em Oncologia Universidade Federal do Pará

AIM To evaluate the relation between 12 polymorphisms and the development of gastric cancer(GC) and colorectal cancer(CRC).METHODS In this study,we included 125 individuals with GC diagnosis,66 individuals with CRC diagnosis and 475 cancer-free individuals. All participants resided in the North region of Brazil and authorized the use of their samples. The 12 polymorphisms(in CASP8,CYP2 E1,CYP19 A1,IL1 A,IL4,MDM2,NFKB1,PAR1,TP53,TYMS,UGT1 A1 and XRCC1 genes) were genotyped in a single PCR for each individual,followed by fragment analysis. To avoid misinterpretation due to population substructure,we applied a previously developed set of 61 ancestryinformative markers that can also be genotyped by multiplex PCR. The statistical analyses were performed in Structure v.2.3.4,R environment and SPSS *** After statistical analyses with the control of confounding factors,such as genetic ancestry,three markers(rs79071878 in IL4,rs3730485 in MDM2 and rs28362491 in NFKB1) were positively associated with the development of GC. One of these markers(rs28362491) and the marker in the UGT1 A1 gene(rs8175347) were positively associated with the development of CRC. Therefore,we investigated whether the joint presence of the deleterious alleles of each marker could affect the development of cancer and we obtained positive results in all analyses. Carriers of the combination of alleles RP1 + DEL(rs79071878 and rs28361491,respectively) are at 10-times greater risk of developing GC than carriers of other combinations. Similarly,carriers of the combination of DEL + RARE(rs283628 and rs8175347) are at about 12-times greater risk of developing CRC than carriers of other *** These findings are important for the comprehension of gastric and CRC development,particularly in highly admixed populations,such as the Brazilian population.

关键词： Inflammatory processes Immune response Genomic and cellular stability Gastric cancer Colorectal cancer Amazon

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Saturated anisotropic hydraulic conductivity of a compacted lateritic soil

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Journal of Rock Mechanics and Geotechnical Engineering 2018年第5期10卷 986-991页

作者： Roberto Aguiar dos santos Edmundo Rogerio Esquivel Varzea Grande Institute of Engineering Federal University of Mato Grosso Cuiaba Mato Grosso Brazil Sao Carlos School of Engineering University of Sao Paulo Sao Carlos Sao Paulo Brazil

This study focuses on the saturated anisotropic hydraulic conductivity of a compacted lateritic clayey sandy soil. The effects of the molding water content and the confining stress on the anisotropic hydraulic conductivity are investigated. The hydraulic conductivity is measured with a flexible-wall permeameter. Samples are dynamically compacted into the three compaction states of a standard Proctor compaction curve： the dry branch, optimum water content and wet branch. Depending on the molding water content and confining stress, the hydraulic conductivity may increase or decrease. In addition, the results indicate that, when the samples are compacted to the optimum water content, lower hydraulic conductivity is obtained, except at a confining stress equal to 50 kPa. The increase of the confining stress decreases the hydraulic conductivity for each of the evaluated compaction states. In the wet branch, horizontal hy- draulic conductivity is about 8 times higher than the vertical value. The anisotropic hydraulic conduc- tivities of the dry and wet branches decrease when the confining stress increases, and the opposite is observed in the optimum water content state.

关键词： Hydraulic conductivity Anisotropic behavior Lateritic soil Tropical soil Compacted soil

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Evaluation of hypoxia inducible factor targeting pharmacological drugs as antileishmanial agents

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Asian Pacific Journal of Tropical Medicine 2016年第7期9卷 633-638页

作者： Marina Dal’Bo Pelegrini juliana Biar Pereira Solange dos santos Costa Myriam Janeth Salazar Terreros Adriana Degrossoli Selma Giorgio Department of Animal Biology Biology InstituteUniversidade Estadual de CampinasCampinasSao PauloBrazil

Objective:To evaluate whether hypoxia inducible factor(HIF-1α) targeting pharmacological drugs,echinomycin,resveratrol and CdCl_2 which inhibit HIF-1α stimulation,and mimosine,which enhances the stability of HIF-1α present antileishmanial ***:The leishmanicidal effect of drugs was evaluated in mouse macrophages and Balb/c mouse model for cutaneous ***:Resveratrol and CdCl_2 reduced the parasite load [IC50,(27.3±2.25) μM and(24.8±0.95) μM,respectively].The IC50 value of echinomycin was(22.7±7.36) nM and mimosine did not alter the parasite load in primary *** macrophage viability IC50 values for resveratrol,echinomycin and CdCl_2 and mimosine were >40 μM,>100 nM,> 200 μM and>2 000 μM,*** vivo no differences between cutaneous lesions from control,resveratrol-and echinomycin-treated Balb/c mice were ***:Resveratrol,echinomycin and CdCl_2 reduce parasite survival in *** HIF-1α targeting pharmacological drugs require further study to more fully determine their anti-Leishmania potential and their role in therapeutic strategies.

关键词： Leishmaniosis Hypoxia inducible factor Resveratrol Echinomycin CdCl2 Mimosine

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