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Machine Learning to Detect Alzheimer’s Disease from Circulating Non-coding RNAs

Genomics, Proteomics & Bioinformatics 2019年第4期17卷 430-440页

作者： Nicole Ludwig Tobias Fehlmann Fabian Kern Manfred Gogol Walter Maetzler Stephanie Deutscher Simone Gurlit Claudia Schulte Anna-Katharina von Thaler Christian Deuschle Florian Metzger daniela berg Ulrike Suenkel Verena Keller Christina Backes Hans-Peter Lenhof Eckart Meese Andreas Keller Department of Human Genetics Saarland University66421 Homburg/SaarGermany Chair for Clinical Bioinformatics Saarland University66123 Saarbru¨ckenGermany Institut fur Gerontologie Universitat Heidelberg69047 HeidelbergGermany Department of Neurology Christian-Albrechts-University of Kiel24118 KielGermany Center for Neurology and Hertie Institute for Clinical Brain Research Department of NeurodegenerationUniversity of Tuebingen72074 TuebingenGermany German Center for Neurodegenerative Diseases(DZNE) 72076 TuebingenGermany Department of Anesthesiology and Intensive Care St.Franziskus Hospital Muenster48145 MuensterGermany Department of Psychiatry and Psychotherapy University Hospital Tuebingen72016 TuebingenGermany Department of Medicine II Saarland University Medical Center66421 Homburg/SaarGermany Center for Bioinformatics Saarland Informatics Campus66123 SaarbruckenGermany

Blood-borne small non-coding(snc RNAs)are among the prominent candidates for blood-based diagnostic ***,high-throughput approaches are applied to discover biomarker *** have to be validated in larger cohorts and evaluated by adequate statistical learning ***,we published high-throughput sequencing based microRNA(miRNA)signatures in Alzheimer’s disease(AD)patients in the United States(US)and ***,we determined abundance levels of 21 known circulating miRNAs in 465 individuals encompassing AD patients and controls by *** computed models to assess the relation between miRNA expression and phenotypes,gender,age,or disease severity(Mini-Mental State Examination;MMSE).Of the 21 miRNAs,expression levels of 20 miRNAs were consistently de-regulated in the US and German cohorts.18 miRNAs were significantly correlated with neurodegeneration(Benjamini-Hochberg adjusted Pberg adjusted P=4.8×10^-30).Machine learning models reached an area under the curve(AUC)value of 87.6%in differentiating AD patients from ***,ten miRNAs were significantly correlated with MMSE,in particular miR-26a/26b-5p(adjusted P=0.0002).Interestingly,the miRNAs with lower abundance in AD were enriched in monocytes and T-helper cells,while those up-regulated in AD were enriched in serum,exosomes,cytotoxic t-cells,and *** study represents the next important step in translational research for a miRNA-based AD test.

关键词： miRNAs Neurodegeneration Alzheimer’s disease Biomarker Non-coding RNAs Gene regulation

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No association between Parkinson disease and autoantibodies against NMDA-type glutamate receptors

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Translational Neurodegeneration 2019年第1期8卷 127-133页

作者： Franziska Hopfner Stefanie HMüller Dagmar Steppat Joanna Miller Nele Schmidt Klaus-Peter Wandinger Frank Leypoldt daniela berg Andre Franke Wolfgang Lieb Lukas Tittmann Monika Balzer-Geldsetzer Simon Baudrexel Richard Dodel Ruediger Hilker-Roggendorf Elke Kalbe Jan Kassubek Thomas Klockgether Inga Liepelt-Scarfone Brit Mollenhauer Petra Neuser Kathrin Reetz Oliver Riedel Claudia Schulte Jörg BSchulz Annika Spottke Alexander Storch Claudia Trenkwalder Hans-Ulrich Wittchen Karsten Witt Ullrich Wüllner Günther Deuschl Gregor Kuhlenbäumer Department of Neurology University Hospital Schleswig HolsteinArnold-Heller Str.324105 KielGermany Center of Blood Transfusion University Hospital Schleswig HolsteinKiel&LübeckGermany Department of Clinical Chemistry University Hospital Schleswig-HolsteinKielGermany Institute of Clinical Molecular Biology University Hospital Schleswig-HolsteinKielGermany Institute of Epidemiology University Hospital Schleswig-HolsteinKielGermany Chair of Geriatric Medicine University Hospital EssenEssenGermany Department of Neurology Philipps-University MarburgMarburgGermany Department of Neurology Goethe UniversityFrankfurt/MainGermany Brain Imaging Center Goethe UniversityFrankfurt/MainGermany Department of Medical Psychology|Neuropsychology and Gender Studies&Center for Neuropsychological Diagnostics and Intervention(CeNDI) University Hospital CologneCologneGermany Psychological Gerontology Institute of GerontologyUniversity of VechtaVechtaGermany Department of Neurology University of UlmUlmGermany Department of Neurology University of Bonnand German Center for Neurodegenerative Diseases(DZNE)BonnGermany Center for Neurology Hertie Institute for Clinical Brain ResearchDepartment of Neurodegenerative DiseasesUniversity of TübingenTübingenGermany DZNE German Center for Neurodegenerative DiseasesTübingenGermany Paracelsus-Elena-Klinik KasselGermany Institute of Neuropathology and Department of Neurosurgery University Medical Center GöttingenGöttingenGermany Coordinating Centre for Clinical Trials Philipps-UniversityMarburgGermany Department of Neurology RWTH Aachen UniversityAachenGermany JARA-BRAIN Institute of Molecular Neuroscience and Neuroimaging Forschungszentrum Jülich GmbH and RWTH Aachen UniversityAachenGermany Leibniz Institute for Prevention Research and Epidemiology-BIPS Achterstrasse 3028359 BremenGermany Department of Neurology Technische Universität Dresden01307 DresdenGermany German Center for Neurodegenerative Diseases(DZNE) Research Site Rostock18147 RostockGerma

Background:IgG-class autoantibodies to N-Methyl-D-Aspartate(NMDA)-type glutamate receptors define a novel entity of autoimmune *** examining the prevalence of NMDA IgA/IgM antibodies in patients with Parkinson disease with/without dementia produced conflicting *** measured NMDA antibodies in a large,well phenotyped sample of Parkinson patients without and with cognitive impairment(n=296)and controls(n=295)free of neuropsychiatric *** phenotyping and large numbers allowed statistically meaningful correlation of antibody status with diagnostic subgroups as well as quantitative indicators of disease severity and cognitive ***:NMDA antibodies were analysed in the serum of patients and controls using well established validated *** used anti-NMDA antibody positivity as the main independent variable and correlated it with disease status and phenotypic ***:The frequency of NMDA IgA/IgM antibodies was lower in Parkinson patients(13%)than in controls(22%)and higher than in previous studies in both *** IgA/IgM antibodies were neither significantly associated with diagnostic subclasses of Parkinson disease according to cognitive impairment,nor with quantitative indicators of disease severity and cognitive impairment.A positive NMDA antibody status was positively correlated with age in controls but not in Parkinson ***:It is unlikely albeit not impossible that NMDA antibodies play a significant role in the pathogenesis or progression of Parkinson disease *** Parkinson disease with dementia,while NMDA IgG antibodies define a separate disease of its own.

关键词： NMDA antibody NMDA IgA/IgM antibodies Parkinson disease Cognitive impairment

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Small extrachromosomal circular DNA in amyotrophic lateral sclerosis matter

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Neural Regeneration Research 2025年第5期20卷 1411-1413页

作者： Marcos J.Arauzo-Bravo daniela Gerovska Matthias Schwab Alexandra Kretz Computational Biology and Systems Biomedicine Biodonostia Health Research InstituteSan SebastianSpain Basque Foundation for Science IKERBASQUEBilbaoSpainMax Planck Institute for Molecular BiomedicineComputational Biology and Bioinformatics GroupMünsterNorth Rhine-WestphaliaGermany Department of Cell Biology and Histology Faculty of Medicine and NursingUniversity of Basque Country(UPV/EHU)LeioaSpain Department of Neurology Jena University HospitalJenaThuringiaGermany

Comprehensive studies identify motor neuron spectrum disorders including amyotrophic lateral sclerosis(ALS)as globally rising fatal disorders with the highest prevalence in aging populations,influenced by ethnicity and ancestry(GBD 2016 Motor Neuron Disease Colla borators,2018).While~10% of diagnoses involve a family history(fALS),most cases are considered sporadic(sALS).However,population-based studies suggest that even cases without a common index mutation impart heritability(Ryan et al.,2019),indicating a crucial role of rare and as yet unknown genetic denominators.

关键词： amyotrophic sclerosis

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Importance of neonatal screening:A case study of sickle cell disease and cystic fibrosis coexistence

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World Journal of Clinical Pediatrics 2025年第1期14卷 113-118页

作者： Nathalia Noyma Sampaio Magalhães Lucas Barra Mathiasi daniela de Oliveira Werneck Rodrigues Department of Pediatrics Faculdade de Ciências Médicas e da Saúde de Juiz de ForaJuiz de Fora 36033-003Brazil Department of Internal Medicine Rede D'Or Rio de JaneiroRio de Janeiro 22270-010Brazil Department of Hematology Fundação HemominasJuiz de Fora 36010-560MGBrazil Department of Internal Medicine Universidade Presidente Antônio Carlos-Faculdade de Medicina Juiz de ForaJuiz de Fora 36010-560Minas GeraisBrazil

BACKGROUND Neonatal screening(NS)is a public health policy to identify genetic pathologies such as cystic fibrosis(CF),sickle cell disease,and other *** cell disea-se is the comprehensive term for a group of hemoglobinopathies characterized by the presence of hemoglobin *** is an autosomal recessive multisystemic disease with pathophysiology involving deleterious mutations in the transmembrane re-gulatory gene that encodes a protein that regulates the activity of chloride and sodium channels in the cell surface *** is crucial for early diagnosis and management,which ensures a better quality of *** To report a case of the coexistence of sickle cell anemia(SCA)and CF and perform an integrative literature *** This is an observational study and a review of the literature focusing on two rare genetic pathologies identified simultaneously in NS from the perspective of a clinical *** authors identified only 5 cases of SCA associated with *** clinical trials or review articles were identified considering the rarity of the coexistence of these two *** Herein,the authors reported the case of a girl who after undergoing NS on day 8 of life was diagnosed with SCA with an alteration in the dosage of immunoreactive *** diagnosis of CF was confirmed by the Coulometry Sweat *** rarity of the co-occurrence of these two severe genetic pathologies(CF and SCA)is a challenge for medical *** This study adds to the few case reports present in the literature that highlight the identification of two severe diseases via NS.

关键词： Sickle cell disease Sickle cell anemia Children Cystic fibrosis Neonatal Screening Case reports

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Nano-confinement of biomolecules： Hydrophilic confinement promotes structural order and enhances mobility of water molecules

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Nano Research 2016年第2期9卷 273-281页

作者： Bachir Aoun daniela Russo Argonne National Laboratory Chicago IL 60439 USA CNR-IOM c/o Institut Laue-Langevin 38400 Grenoble France Institut Lumiere Matiere Universite de Lyon 69622 Lyon France

Molecular dynamics simulations have been used to investigate the confinement packing characteristics of small hydrophilic （N-acetyl-glycine-methylamide, Nagma） and hydrophobic （N-acetyl-leucine-methylamide, Nalma） biomolecules in large diameter single-wall carbon nanotubes （SWCNTs）. We find that hydrophilic biomolecules easily fill the nanotube and self organize into a geometrical configuration which reminds the water structural organization under SWCNT confinement. The packing of hydrophilic biomolecules inside the cylinder confines all water molecules in its core, which enhances their mobility. Conversely, hydrophobic biomolecules accommodate into the nanotubes with a trend for homogeneous filling, which generate unstable small pockets of water and drive toward a state of dehydration. These results shed light on key parameters important for the encapsulation of biomolecules with direct relevance for long-term storage and prevention of degradation.

关键词： nano-confinement protein folding hydration water carbon nanotube drug delivery

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Characterising populations living close to intensive farming and composting facilities in England

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Frontiers of Environmental Science & Engineering 2021年第3期15卷 97-109页

作者： Philippa Douglas daniela Fecht Deborah Jarvis National Heart and Lung Institute MRC Centre for Environment and HealthImperial College LondonLondonSW36LZUK Centre for Radiation Chemical and Environmental HazardsPublic Health EnglandHarwell CampusDidcotOxfordshireOX 11 ORQUK UK Small Area Health Statistics Unit MRC Centre for Environment and HealthSchool of Public HealthImperial College LondonLondonW2 IPGUK

Bioaerosol exposure has been linked to adverse respiratory *** farming and composting facilities are important anthropogenic sources of *** aimed to characterise populations living close to intensive farming and composting *** also infer whether the public are becoming more concerned about anthropogenic bioaerosol emissions,using reports of air pollution related incidents attributed to *** mapped the location of 1,257 intensive farming and 310 composting facilities in England in relation to the resident population and its characteristics(sex and age),area characteristics(deprivation proxy and rural/urban classification)and school locations stratified by pre-defined distance bands from these bioaerosol *** also calculated the average number of air pollution related incidents per year per *** found that more than 16%of the population and 15%of schools are located within 4,828 m of an intensive farming facility or 4,000 m of a composting facility;few people(0.01%)live very close to these sites and tend to be older *** to composting facilities,populations are more likely to be urban and more *** number of incidents were attributed to a small proportion of facilities;population characteristics around these facilities were *** indicate that populations living near composting facilities(particularly>250 to≤4,000 m)are mostly located in ur6an areas(80188%of the population),which supports the need for more community health studies to be *** could also be used to inform risk management strategies at facilities with higher numbers of incidents.

关键词： Composting Intensive farming Bioaerosol Population characteristics Public health

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Breaking the brain barrier:cell competition in neural development and disease

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Neural Regeneration Research 2024年第9期19卷 1863-1864页

作者： Patrizia Morciano daniela Grifoni Department of“Life Health and Environmental Sciences”University of L’AquilaItaly “INFN-Laboratori Nazionali del Gran Sasso” AssergiItaly

General information on cell competition:Social behaviors are the basis of biological *** species and populations,cell communities experience Darwinian ecological interactions,and in case space and nutrient availabilit... 详细信息

关键词： neural barrier throughout

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fFabrication of three-dimensional proteinaceous micro- and nano-structures by femtosecond laser cross-linking

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Opto-Electronic Advances 2018年第4期1卷 12-29页

作者： daniela Serien Koji Sugioka Advanced Laser Processing Research Team RIKEN Center for Advanced Photonics 2-1 Hirosawa Wako Saitama 351-0198 Japan

Proteins are a class of biomaterials having a vast array of functions, including the catalysis of metabolic reactions, DNA replication, stimuli response and transportation of molecules. Recent progress in laser-based fabrication technologies has enabled the formation of three-dimensional （3D） proteinaceous micro- and nano-structures by femtosecond laser cross-linking, which has expanded the possible applications of proteins. This article reviews the current knowledge andrecent advancements in the femtosecond laser cross-linking of proteins. An overview of previous studies related to fabri-cation using a variety of proteins and detailed discussions of the associated mechanisms are provided. In addition, ad-vances and applications utilizing specific protein functions are introduced. This review thus provides a valuable summaryof the 3D micro- and nano-fabrication of proteins for biological and medical applications.

关键词： laser direct write femtosecond laser cross-linking protein 3D fabrication microfluidics actuation scaffold

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Disaster Risk Governance as Assemblage: The Chilean Framework of the 1985 San Antonio Earthquake

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International Journal of Disaster Risk Science 2022年第6期13卷 878-889页

作者： daniela P.González Architecture and Urban Studies Pontifcal Catholic University of Chile7520245 SantiagoChile

The purpose of this article is to analyze disaster risk governance through assemblage theory, identifying how-during the altered political context of a military regime with a centralized disaster risk management as in the case of Chile in 1985-new actors emerge during the disaster response phase as a de/reterritorialization effect that is influenced by their agencies and relationships, disfiguring the edges of the assemblage. Based on this conceptualization, it is possible to investigate the interactions between the different actors, their power relations, and their reconfigurations in the governance exercise. For this purpose, we reviewed the response phase of the 1985 San Antonio earthquake that affected the central zone of Chile, where strategic functions, institutions, and forms of power are *** describe and visualize the actors during the response phase in the disaster risk governance framework, a map of actors was developed that identifies the existing relationships and their different weights. The central scale proved to be dominant and occupied a political space that was transfigured by its overrepresentation-enforced by allies such as the banking system and business associations-enhancing a neoliberal agenda. The leaps in scale from the central scale to the local scale cancel agency of the last, destabilizing its capacity to deal with the effects of the earthquake and isolating it from the decision-making processes. Consequently,delays in providing aid demonstrate that authoritarian governments do not provide better management in the disaster response phase.

关键词： Assemblage Chile Disaster response phase Disaster risk governance San Antonio earthquake

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Influence of Doping Ions on the Antibacterial Activity of Biomimetic Coating on CoCrMo Alloy

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Journal of Bionic Engineering 2015年第4期12卷 583-591页

作者： Georgeta Totea daniela Ionita Ioana Demetrescu Faculty of Applied Chemistry and Materials Science Department of General Chemistry University Politehnica of Bucharest 1-7 Polizu district 1 Bucharest Ro-O 11061 Romania

In this study biomimetic fluoridated phosphate doped hydrophilic coatings with various ions on CoCrMo alloy were pre- pared by electrodeposition. Cu and Zn ions were chosen for doping because of their well known antibacterial activity. The struc^xes of the coatings were identified using Fourier-transform Infrared （FTIR） analysis. X-ray Diffraction （XRD） analysis was performed to evaluate crystallite dimensions of the specimen surface. The contact angle was measured in order to establish the hydrophilic/hydrophobic balance and to compute surface energy. All studied samples have a hydrophilic character which is weaken after doping. The time evolution of ions releasing from the coatings was evaluated with an inductively plasma mass spectrometer after immersion in saline phosphate. The hemolytic experiments indicate that except the fluoridated coatings doped with Zn which is slightly hemolytic, all other samples are non hemolytic. The test for antibacterial activity for Staphy- lococcus aureus and Pseudomonas aeruginosa indicated that the fluoridated biomimetic coating doped with various positive ions increases bacterial growth inhibition level significantly. Fluoridated phosphate coating doped with Cu has best antibacterial activity

关键词： phosphate coating electrodeposition CoCrMo alloy doping ions antibacterial activity

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