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Genomic Analysis of 727 Patients with Ehlers-Danlos Syndrome I: Clinical Perspective Relates 23 Genes to a Maternally Influenced Arthritis-Adrenaline Disorder

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Journal of Biosciences and Medicines 2019年第12期7卷 181-204页

作者： Golder n. Wilson Texas Tech University Health Science Center Lubbock and Kinder Genome Genetics Private Practice Dallas TX USA

A novel medical approach for qualifying DnA variants found by whole exome sequencing (WES) facilitates discovery of new gene-disease relationships and emphasizes that DnA change must be correlated with clinical findings before having utility for diagnosis. Delineation of an arthritis-adrenaline disorder (AAD) process qualified variants in 23 genes as diagnostically useful in 727 patients having WES among 1656 with Ehlers-Danlos syndrome (eds);these results distinguished them from 102 patients who had qualified gene variants among 728 with developmental disability. Excess maternal transmission of AAD by pedigree analysis plus 167 maternally versus 111 paternally transmitted DnA variants and 75 patients with only mitochondrial DnA variants suggest maternal influence on inheritance of AAD and its subsumed eds types. Genes grouped by impact on different connective tissue elements showed variation in similar numbers of patients with hypermobile or classical eds, benign joint hypermobility, or predominant dysautonomia: COL7A1, FLG acting on skin in 21 patients;SCn9A/10A/11A, POLG on nerve in 24;COL6A1/A2/A3, COL12 on muscle in 19;COL5A1/A2, FBn1, TGFB2/3, TGFBR1/2 on tissue matrix in 51;COL3A1, VWF on vessel in 18;COL1A1/A2, COL11A1/A2 acting on bone in 15 patients. Each gene group acts through a postulated articulo-autonomic dysplasia cycle to produce reciprocal tissue laxity and dysautonomia findings that transcend eds types. This same tissue laxity-dysautonomia cycle acts to produce secondary complications in disorders ranging from distinctive connective tissue dysplasias to developmental disorders with hypotonia and acquired conditions with autonomic imbalance. Several altered genes were previously associated with neuromuscular disorders, foreshadowing a large myopathic eds category that will incorporate many patients with hypermobility. The importance of muscle for joint constraint supports present exercise and future mesenchymal stem cell therapies, whether AAD is g

关键词： Ehlers-Danlos Syndrome Connective Tissue Dysplasia Arthritis-Adrenaline Disorder Articulo-Autonomic Dysplasia Whole Exome Sequencing Collagen Genes

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Clinical Analysis Supports Articulo-Autonomic Dysplasia as a Unifying Pathogenic Mechanism in Ehlers-Danlos Syndrome and Related Conditions

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Journal of Biosciences and Medicines 2019年第6期7卷 149-168页

作者： Golder n. Wilson Texas Tech University Health Science Center Lubbock and KinderGenome Medical Genetics Private Practice Dallas TX USA

Findings in 1656 patients referred for evaluation of Ehlers-Danlos syndrome, 710 evaluated systematically using novel history and physical forms, defined a characteristic clinical pattern termed arthritis-adrenaline disorder, a genus that provides immediate therapy while delineation of particular tissue laxity/dysautonomia species is underway. Preliminary diagnoses, clinical findings, and laboratory results were entered into an MS Excel? database with IRB approval and correlations or statistical significance analyzed using Excel? functions. Frequencies of 80 findings by history and 40 on physical were similar among eds groups, females paralleling males with more total history (35 versus 23) and physical (18 versus 15) findings. Finding frequencies in joint-skeletal (6.2 of 15) and dysautonomia (11 of 20) subcategories were substantial regardless of age, eds diagnosis, or referral source, the latter was shown by 6.4 and 13 average findings for cardiology, 5.3 and 8.3 for orthopedic referrals. Early affliction evidenced by history findings averaging 19.5 in those under 12 increased dramatically to 25 for teens and 32 for adults with plateauing at older ages arguing against degenerative disease. Frequent neuromuscular symptoms in females emphasize surrounding muscle support and protection of joint-connective tissue as a key factor in decreased male severity. The congruent clinical profile suggests operation of an articulo-autonomic dysplasia cycle where lax vessels and lower body pooling elicit sympathetic response, autonomic imbalance in turn affecting small nerve fibers and enhancing connective tissue laxity. Recognition of this arthritis-adrenalin disorder can guide management strategies while underlying causes are pursued, among them, physical therapy, exercise, and vitamin D to build muscle/bone strength;lower gluten/dairy and antihistamine protocols for low bowel motility/mast-cell activation;hydration, salt, and exercise for postural orthostatic tachycardia synd

关键词： Ehlers-Danlos Syndrome Arthritis-Adrenaline Disorder Connective Tissue Dysplasia Hypermobility Dysautonomia Joint Laxity Skin Elasticity IBS POTS MCAD

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Failure Analysis of Austenitic Stainless Steel Implant Screws and Prospection of Chemical Composition Using Artificial Intelligence

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World Journal of Engineering and Technology 2022年第1期10卷 98-118页

作者： Alfonso Monzamodeth Román-Sedano Bernardo Campillo Fermín Castillo Osvaldo Flores Facultad de Química Universidad Nacional Autónoma de México Ciudad de México México Instituto de Ciencias Físicas Universidad Nacional Autónoma de México Cuernavaca Morelos México

In this work, austenitic stainless steel screws employed in a locking compression plate for veterinarian use were investigated. These types of implants are widely utilized in bone fractures healing. Two surgical screws were extracted due to the observation of slight superficial red rust colorizing on one of the screw implants, visual evidence of probable screw rusting. From the same implant, another screw was extracted simultaneously without visual evidence of rusting. In order to characterize and analyze the different behavior of both screws, the chemical composition was characterized by atomic absorption and energy dispersive X-ray spectroscopy (eds) coupled to a scanning electron microscope (SEM). Also, the screws were studied by metallography, optical microscopy (OM), Vickers microhardness tests, and SEM analysis. On the other hand, a prospection for alloy chemical composition limits of these types of implants was performed based on the Schaeffler-Delong diagram and the ASTM F-138 standard. To analyze the effect of the chemical composition, heat treatment, microstructure, pitting resistance equivalent number (PRE) and stacking fault energy (SFE), a genetic algorithm (GA) and an artificial neural network (Ann) were used. In accordance with the elemental analysis, the surgical screws do not fulfill the ranges of the chemical composition established by the ASTM F-138 standard. Furthermore, there were found differences between the microstructures of the screws. In regard to the prospection, the results of GA and Ann support the proposed chemical composition region on the Schaeffler-Delong diagram. The corrosion failure was associated with severe plastic deformation and the presence of precipitates. The proposal can minimize the cause of failures in these types of austenitic stainless steel implants.

关键词： Implant Screw Failure Analysis Genetic Algorithm Artificial neural network Austenitic Stainless Steel

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硼硅酸盐生物玻璃表面多层结构的形成机理(英文)

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无机化学学报 2008年第7期24卷 1132-1136页

作者：姚爱华林健段祥黄文旵 Rahaman Mohamed n 同济大学材料科学与工程学院上海200092 Missouri University of Science and Technology MOUSA65409

描述了硼硅酸盐生物活性玻璃在体外含磷溶液中的转变过程,并采用XRD、SEM和eds对反应产物的微观结构、形貌和成分进行了分析。结果显示,产物为多层结构,由羟基磷灰石和无定型SiO2层交替排列而成。此外,提出了一个定性模型来解释层状结... 详细信息

描述了硼硅酸盐生物活性玻璃在体外含磷溶液中的转变过程,并采用XRD、SEM和eds对反应产物的微观结构、形貌和成分进行了分析。结果显示,产物为多层结构,由羟基磷灰石和无定型SiO2层交替排列而成。此外,提出了一个定性模型来解释层状结构的形成机制。研究证实,反应动力学及反应产物的微观结构主要取决于生物活性玻璃的成分和含磷溶液的浓度。

关键词：硼硅酸盐玻璃羟基磷灰石形成机理生物活性玻璃

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Synthesis and Characterization of Green Potassium nanoparticles from Sideroxylon Capiri and Evaluation of Their Potential Antimicrobial

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Journal of Renewable Materials 2021年第10期9卷 1699-1706页

作者： Judith Constantino-Alcazar Miguel Abud-Archila Benjamín Valdez-Salas Federico Gutierrez-Miceli Carlos Ceceña-Duran Blanca López-Valenzuela Daniel Gonzalez-Mendoza Tecnológico nacional de México Instituto Tecnológico de Tuxtla GutiérrezTuxtlaGutiérrezC.P.03940México Instituto de Ciencias Agrícolas de la Universidad Autónoma de Baja California(ICA-UABC) Ejido Nuevo LeónC.P.21705México Instituto de Ingeniería de la Universidad Autónoma de Baja California Mexicali21100México

In the present study,the green synthesis of potassium nanoparticles(K-nPs)was assessed using aqueous extract of Sideroxylon *** potassium nanoparticles were analyzed by UV-visible spectroscopic techniques,X-ray spectrometers of energy dispersive(SEM-eds)and dynamic light *** results showed high values at 3.5 keV confirming the formation of potassium nanoparticles and the SEM analysis showed an agglomerated particles size between 360 to 200 nm with a spherical *** K-nPs showed an effective antibacterial activity against the test organisms mainly with Bacillus cereus,Enterobacter aerogenes,Fusarium solani and Botrytis *** further studies about nanotoxicity of K-nPs are needed to confirm their potential in the control of the pathogen microorganisms under field conditions.

关键词： Antimicrobial effect green synthesis Sideroxylon capiri biocontrol

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Floristic Composition and Community Structure of Epiphytic Angiosperms in an Urban Forest Fragment in the Eastern Amazon

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Research in Ecology 2021年第4期3卷 1-8页

作者： Josélia Rozanny Vieira pacheco Felipe Fajardo Villela Antolin Barberena Herbário HCP Universidade Federal Rural da Amazônia-campus Capitão PoçoRua Professora Antônia Cunha de Oliveira s.n.Vila NovaCEP 68650-000Capitão PoçoParáBrazil Programa de Pós-graduação em Botânica Tropical Museu Paraense Emílio GoeldiAvenida Perimetral 1901Terra FirmeCEP 66077-830BelémParáBrazil

Vascular epiphytes are one of the most important forest components,contributing to microclimatic *** plants find ideal conditions for development in the Amazon due to the spatial heterogeneity and high temperature and humidity typical of this *** recent years,the Brazilian Amazon has undergone dramatic changes in its landscape,mainly due to the increase in deforestation and fire *** present here the floristic composition and analyze the community structure of epiphytic angiosperms of an urban forest fragment in Eastern Amazon.A total of 71 epiphytic individuals were recorded belonging to eight species and four *** was the most representative family,corroborating the pattern for surveys of epiphytic diversity in the neotropical *** species were found on 24 individuals of 10 tree *** epiphytic importance value(IVe)was low for all species,except for Aechmea tocantina and Rhipsalis *** was the family with the highest *** epiphytes were found in the crown of trees(83.1%).The diversity index of the fragment was H’=1.80 and the equity index was J=0.87,reflecting the absence of highly dominant *** of urban forest fragments is necessary for the maintenance of epiphytic flora and ecosystem services.

关键词： Amazon rainforest Cactaceae Crown Diversity index Epiphyte ecology Forest remnant Orchidaceae Vertical distribution

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Synthesis and Characterization of WS_(2) Inorganic nanotubes with Encapsulated/Intercalated CsI

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nano Research 2010年第3期3卷 170-173页

作者： Sung You Hong Ronit Popovitz-Biro Gerard Tobias Belén Ballesteros Benjamin G.Davis Malcolm L.H.Green Reshef Tenne Department of Chemistry Chemistry Research LaboratoryUniversity of OxfordMansfield RoadOxfordOX13TAUK Electron Microscopy Unit Weizmann Institute of ScienceRehovot 76100Israel Inorganic Chemistry Laboratory University of OxfordSouth Parks RoadOxfordOX13QRUK Department of Materials and Interfaces Weizmann Institute of ScienceRehovot 76100Israel

WS2 nanotubes have been filled and intercalated by molten phase caesium *** presence of caesium iodide inside the WS_(2) nanotubes has been determined using high-resolution transmission electron microscopy(HRTEM)coupled with electron energy-loss spectroscopy(EELS)and energy-dispersive X-ray spectroscopy(eds).noticeably,a Moirépattern was observed due to the interference between encapsulated CsI and WS_(2) *** intercalation of CsI into the host concentric WS2 lattices resulted in an increase in the interplanar spacing.

关键词： Inorganic nanotubes transmission electron microscopy intercalation encapsulation

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Characterization of functionalized multiwalled carbon nanotubes and application as an effective filter for heavy metal removal from aqueous solutions

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Chinese Journal of Chemical Engineering 2016年第12期24卷 1695-1702页

作者： Emad.M.Elsehly n.G.Chechenin A.V.Makunin H.A.Motaweh E.A.Vorobyeva K.A.Bukunov E.G.Leksina A.B.Priselkova Skobeltsyn Institute of nuclear Physics Lomonosov Moscow State University Faculty of Science Damanhour University Faculty of Physics Lomonosov Moscow State University

Filtration efficiency of ni(II) from aqueous solution using pristine and modified MWCnTs filters was investigated as a function of ni(II) ion concentration, p H, and filter mass. MWCnTs were synthesized by CVD method and modified using two complementary treatments, purification(using a mixture of hydrochloric acid and hydrogen peroxide) and functionalization(using nitric acid). The effect and mechanism of each treatment on the structural integrity of pristine MWCnTs has been studied. Morphology of the pristine and modified filters was investigated by Raman Spectrometry(RS), Scanning Electron Microscopy(SEM), Energy Dispersive X-ray Spectroscopy(eds),Fourier Transform Infrared(FTIR) spectrometry and Thermogravimetric analysis. It was found from Raman spectra that the ratio of the intensity of D-band to that of G-band decreased by purification process, and increased by functionalization process. The adsorption mechanism of ni(II) onto the surface functional groups of modified MWCnTs was confirmed by FTIR spectrum. The filtration results showed that the removal efficiency of ni(II) is strongly dependent on pH and could reach 85% at pH = 8. Also, modified MWCnT filters can be reused through many cycles of regeneration with high performance. Functionalized MWCnTs filters may be a promising adsorbent candidate for heavy metal removal from wastewater.

关键词： MWCnTs filters Functionalization nickel removal Filtration Raman spectrometry Purification

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Influence of niobium and molybdenum addition on microstructure and wear behavior of laser-borided layers produced on nimonic 80A-alloy

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Transactions of nonferrous Metals Society of China 2019年第2期29卷 322-337页

作者： n.MAKUCH P.DZIARSKI M.KULKA A.PIASECKI M.TULI?SKI R.MAJCHROWSKI Institute of Materials Science and Engineering Poznan University of Technology Institute of Mechanical Technology Poznan University of Technology

Laser alloying was used for production of thick layers on surface of nimonic *** laser surface modification,three types of pre-coated pastes were applied:with amorphous boron,with amorphous boron and molybdenum as well as with amorphous boron and *** microstructure,hardness and wear resistance of produced layers were studied in *** presence of different types of borides in re-melted zone depended on the paste composition and caused an increase in hardness up to about HV *** wear resistance was evaluated by calculation of mass wear intensity factor Imw and relative mass loss of specimen and *** wear behavior of the tested frictional pairs was determined by 3D interference microscopy,scanning electron microscopy equipped with eds *** significant increase in abrasive wear resistance was observed in comparison to untreated nimonic *** lowest mass loss intensity factor was characteristic of laser-alloyed nimonic 80A-alloy with boron and niobium(Imw=1.234 mg/(cm2?h)).Laser alloyed-layers indicated abrasive wear mechanism with clearly visible *** alloying with boron and niobium resulted in the additional oxidative wear *** this case,eds patterns revealed presence of oxygen on the worn surface of specimen.

关键词： laser alloying surface topography wear testing surface analysis wear mechanism nickel alloy

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InFLUEnCE OF SO_4^(2-) AnD Cl-On THE CORROSIOn BEHAVIOR OF COPPER TUBE In AIR-COnDITIOnInG SYSTEM

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Acta Metallurgica Sinica(English Letters) 2004年第1期17卷 92-96页

作者： C.S.Wu Z.Zhang F.H.Cao J.Q.Zhang J.M.Wang C.n.Cao Department of Chemistry Yuquan CampusZhejiang University Hangzhou 310027ChinaDepartment of Chemistry Yuquan CampusZhejiang University Hangzhou 310027ChinaDepartment of Chemistry Yuquan CampusZhejiang University Hangzhou 310027ChinaDepartment of Chemistry Yuquan CampusZhejiang University Hangzhou 310027China State Key Laboratory for Corrosion and Protection of Metals Shenyang 110016 ChinaDepartment of ChemistryYuquan Campus Zhejiang University Hangzhou 310027ChinaDepartment of ChemistryYuquan Campus Zhejiang University Hangzhou 310027China State Key Laboratory for Corrosion and Protection of MetalsShenyang 110016 China

The influence of chloride or sulphur dioxide on the corrosion behavior of copper tube in the air-conditioning system was studied using scanning electron microscope (SEM), energy dispersion spectrometer (eds) and cyclic polarization techniques. The results showed that the corrosion of copper tube are mainly caused by the SO42- and Cl- ions in the circulating water, and the former is mainly responsible for the general corrosion of the copper tube whilst the latter for the pitting corrosion. The different influences of SG42- and Cl- ions on the corrosion type of copper tube may be attributed to that the radius of SO42- ion is much larger than that of Cl- ion. Meanwhile the results also indicated that SO42- inhibits the pitting corrosion caused by Cl- and Cl- inhibits the general corrosion initiated by SO42- due to their competitive adsorption on the copper matrix.

关键词： copper corrosion behavior influence SO42- ion Cl- ion

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