38 results on '"Poloni E"'
Search Results
2. A Homogenizing Process of Selection Has Maintained an “Ultra-Slow” Acetylation NAT2 Variant in Humans
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Patillon, B., Luisi, P., Poloni, E. S., Boukouvala, S., Darlu, P., Genin, E., and Sabbagh, A.
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- 2015
3. Genetic history of the African Sahelian populations
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Černý, V., Kulichová, I., Poloni, E. S., Nunes, J. M., Pereira, L., Mayor, A., and Sanchez‐Mazas, A.
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- 2018
- Full Text
- View/download PDF
4. The molecular diversity of the Niokholo Mandenkalu from Eastern Senegal: an insight into West Africa genetic history
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Excoffier, L., primary, Poloni, E. S., additional, Santachiara-Benerecetti, S., additional, Semino, O., additional, and Langaney, A., additional
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- 1996
- Full Text
- View/download PDF
5. Heterogeneous distribution of amyotrophic lateral sclerosis patients with SOD-1 gene mutations: preliminary data on an Italian survey
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Malaspina, A., Zaman, R., Mazzini, L., Camana, C., Poloni, E., Curti, D., and Ceroni, Mauro
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- 1999
- Full Text
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6. Sopra un fenomeno dell’elettrolisi
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Bartoli, A. and Poloni, E. G.
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- 1871
- Full Text
- View/download PDF
7. Clinical factors associated with statins prescription in acute ischemic stroke patients: findings from the Lombardia Stroke Registry
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Canavero, I, Cavallini, A, Perrone, P, Magoni, M, Sacchi, L, Quaglini, S, Lanzola, G, Micieli, G, Adobbati, L, Silani, V, Agostoni, E, Scaccabarozzi, C, Arnaboldi, M, Vidale, S, Baietti, G, Bettoni, L, Balducci, U, Chia, F, Baron, P, Bresolin, N, Bassi, P, Bazzi, P, Crespi, V, Beretta, S, Bet, L, Meola, G, Bezzi, G, Boncoraglio, G, Parati, E, Bono, G, Delodovici, M, Bordo, B, Colombo, A, Borutti, G, Piccolo, G, Brusaferri, F, Prelle, A, Calloni, M, Camerlingo, M, Censori, B, Cerini, C, Turla, M, Checcarelli, N, Guidotti, M, Comi, G, Sessa, M, Costa, A, Donati, E, Ferrante, C, Frediani, F, Lattuada, P, Poloni, E, Gambaro, P, Mariani, C, Gomitoni, A, Grampa, G, Lanza, E, Magnoni, A, Marcheselli, S, Marsile, C, Molini, G, Sasanelli, F, Martignoni, A, Mattioli, M, Neromante, I, Porazzi, D, Poloni, M, Previdi, P, Silvestrelli, G, Riva, M, Zilioli, A, Romorini, A, Santilli, I, Tadeo, C, Zaccone, M, Zarcone, D., FERRARESE, CARLO, Canavero, I, Cavallini, A, Perrone, P, Magoni, M, Sacchi, L, Quaglini, S, Lanzola, G, Micieli, G, Adobbati, L, Silani, V, Agostoni, E, Scaccabarozzi, C, Arnaboldi, M, Vidale, S, Baietti, G, Bettoni, L, Balducci, U, Chia, F, Baron, P, Bresolin, N, Bassi, P, Bazzi, P, Crespi, V, Beretta, S, Ferrarese, C, Bet, L, Meola, G, Bezzi, G, Boncoraglio, G, Parati, E, Bono, G, Delodovici, M, Bordo, B, Colombo, A, Borutti, G, Piccolo, G, Brusaferri, F, Prelle, A, Calloni, M, Camerlingo, M, Censori, B, Cerini, C, Turla, M, Checcarelli, N, Guidotti, M, Comi, G, Sessa, M, Costa, A, Donati, E, Ferrante, C, Frediani, F, Lattuada, P, Poloni, E, Gambaro, P, Mariani, C, Gomitoni, A, Grampa, G, Lanza, E, Magnoni, A, Marcheselli, S, Marsile, C, Molini, G, Sasanelli, F, Martignoni, A, Mattioli, M, Neromante, I, Porazzi, D, Poloni, M, Previdi, P, Silvestrelli, G, Riva, M, Zilioli, A, Romorini, A, Santilli, I, Tadeo, C, Zaccone, M, and Zarcone, D
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TOAST Classification ,Registrie ,Male ,medicine.medical_specialty ,Neurology ,Statin ,medicine.drug_class ,Clinical Neurology ,Follow-Up Studie ,Brain Ischemia ,Brain ischemia ,Risk Factors ,Internal medicine ,medicine ,Humans ,cardiovascular diseases ,Registries ,Medical prescription ,Stroke ,Aged ,Aged, 80 and over ,Ischemic stroke ,business.industry ,Risk Factor ,Statins ,Adherence ,Classification tree ,Performance predictors ,nutritional and metabolic diseases ,General Medicine ,medicine.disease ,Performance predictor ,Italy ,Physical therapy ,Female ,Neurosurgery ,Hydroxymethylglutaryl-CoA Reductase Inhibitor ,Neurology (clinical) ,Hydroxymethylglutaryl-CoA Reductase Inhibitors ,business ,Dyslipidemia ,Human ,Research Article ,Follow-Up Studies - Abstract
Background: Statins, due to their well-established pleiotropic effects, have noteworthy benefits in stroke prevention. Despite this, a significant proportion of high-risk patients still do not receive the recommended therapeutic regimens, and many others discontinue treatment after being started on them. The causes of non-adherence to current guidelines are multifactorial, and depend on both physicians and patients. The aim of this study is to identify the factors influencing statin prescription at Stroke Unit (SU) discharge.Methods: This study included 12,750 patients enrolled on the web-based Lombardia Stroke Registry (LRS) from July 2009 to April 2012 and discharged alive, with a diagnosis of ischemic stroke or transient ischemic attack (TIA) and without contra-indication to statin therapy. By logistic regression analysis and classification trees, we evaluated the impact of demographic data, risk factors, tPA treatment, in-hospital procedures and complications on statin prescription rate at discharge.Results: We observed a slight increase in statins prescription during the study period (from 39.1 to 43.9%). Lower age, lower stroke severity and prestroke disability, the presence of atherothrombotic/lacunar risk factors, a diagnosis of non-cardioembolic stroke, tPA treatment, the absence of in-hospital complications, with the sole exception of hypertensive fits and hyperglycemia, were the patient-related predictors of adherence to guidelines by physicians. Overall, dyslipidemia appears as the leading factor, while TOAST classification does not reach statistical significance.Conclusions: In our region, Lombardia, adherence to guidelines in statin prescription at Stroke Unit discharge is very different from international goals. The presence of dyslipidemia remains the main factor influencing statin prescription, while the presence of well-defined atherosclerotic etiopathogenesis of stroke does not enhance statin prescription. Some uncertainties about the risk/benefit of statin therapy in stroke etiology subtypes (cardioembolism, other or undetermined causes) may partially justify the underuse of statin in ischemic stroke. The differences that exist between current international guidelines may prevent a more widespread use of statin and should be clarified in a consensus. © 2014 Canavero et al.; licensee BioMed Central Ltd
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- 2014
8. A clinal pattern of human Y chromosome diversity in North Africa
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Arredi, B, Poloni, E, Paracchini, S, Zerjal, T, Fathallah, D, Makrelouf, M, Novelletto, A, and Tyler-Smith, C
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- 2004
9. Contribution of genetic background, traditional risk factors, and HIV-related factors to coronary artery disease events in HIV-positive persons
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Rotger, M, Glass, T, Junier, T, Lundgren, J, Neaton, J, Poloni, E, Van 'T Wout, A, Lubomirov, R, Colombo, S, Martinez, R, Rauch, A, Günthard, H, Neuhaus, J, Wentworth, D, Van Manen, D, Gras, L, Schuitemaker, H, Albini, L, Torti, C, Jacobson, L, Li, X, Kingsley, L, Carli, F, Guaraldi, G, Ford, E, Sereti, I, Hadigan, C, Martinez, E, Arnedo, M, Egaña Gorroño, L, Gatell, J, Law, M, Bendall, C, Petoumenos, K, Rockstroh, J, Wasmuth, J, Kabamba, K, Delforge, M, De Wit, S, Berger, F, Mauss, S, De Paz Sierra, M, Losso, M, Belloso, W, Leyes, M, Campins, A, Mondi, A, De Luca, A, Bernardino, I, Barriuso Iglesias, M, Torrecilla Rodriguez, A, Gonzalez Garcia, J, Arribas, J, Fanti, I, Gel, S, Puig, J, Negredo, E, Gutierrez, M, Domingo, P, Fischer, J, Fätkenheuer, G, Alonso Villaverde, C, Macken, A, Woo, J, Mcginty, T, Mallon, P, Mangili, A, Skinner, S, Wanke, C, Reiss, P, Weber, R, Bucher, H, Fellay, J, Telenti, A, Tarr, P, Gori, A, MacKen, A, McGinty, T, GORI, ANDREA, Rotger, M, Glass, T, Junier, T, Lundgren, J, Neaton, J, Poloni, E, Van 'T Wout, A, Lubomirov, R, Colombo, S, Martinez, R, Rauch, A, Günthard, H, Neuhaus, J, Wentworth, D, Van Manen, D, Gras, L, Schuitemaker, H, Albini, L, Torti, C, Jacobson, L, Li, X, Kingsley, L, Carli, F, Guaraldi, G, Ford, E, Sereti, I, Hadigan, C, Martinez, E, Arnedo, M, Egaña Gorroño, L, Gatell, J, Law, M, Bendall, C, Petoumenos, K, Rockstroh, J, Wasmuth, J, Kabamba, K, Delforge, M, De Wit, S, Berger, F, Mauss, S, De Paz Sierra, M, Losso, M, Belloso, W, Leyes, M, Campins, A, Mondi, A, De Luca, A, Bernardino, I, Barriuso Iglesias, M, Torrecilla Rodriguez, A, Gonzalez Garcia, J, Arribas, J, Fanti, I, Gel, S, Puig, J, Negredo, E, Gutierrez, M, Domingo, P, Fischer, J, Fätkenheuer, G, Alonso Villaverde, C, Macken, A, Woo, J, Mcginty, T, Mallon, P, Mangili, A, Skinner, S, Wanke, C, Reiss, P, Weber, R, Bucher, H, Fellay, J, Telenti, A, Tarr, P, Gori, A, MacKen, A, McGinty, T, and GORI, ANDREA
- Abstract
Background Persons infected with human immunodeficiency virus (HIV) have increased rates of coronary artery disease (CAD). The relative contribution of genetic background, HIV-related factors, antiretroviral medications, and traditional risk factors to CAD has not been fully evaluated in the setting of HIV infection.Methods In the general population, 23 common single-nucleotide polymorphisms (SNPs) were shown to be associated with CAD through genome-wide association analysis. Using the Metabochip, we genotyped 1875 HIV-positive, white individuals enrolled in 24 HIV observational studies, including 571 participants with a first CAD event during the 9-year study period and 1304 controls matched on sex and cohort.Results A genetic risk score built from 23 CAD-associated SNPs contributed significantly to CAD (P = 2.9×10 -4). In the final multivariable model, participants with an unfavorable genetic background (top genetic score quartile) had a CAD odds ratio (OR) of 1.47 (95% confidence interval [CI], 1.05-2.04). This effect was similar to hypertension (OR = 1.36; 95% CI, 1.06-1.73), hypercholesterolemia (OR = 1.51; 95% CI, 1.16-1.96), diabetes (OR = 1.66; 95% CI, 1.10-2.49), ≥1 year lopinavir exposure (OR = 1.36; 95% CI, 1.06-1.73), and current abacavir treatment (OR = 1.56; 95% CI, 1.17-2.07). The effect of the genetic risk score was additive to the effect of nongenetic CAD risk factors, and did not change after adjustment for family history of CAD.Conclusions In the setting of HIV infection, the effect of an unfavorable genetic background was similar to traditional CAD risk factors and certain adverse antiretroviral exposures. Genetic testing may provide prognostic information complementary to family history of CAD. © 2013 The Author.
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- 2013
10. No longitudinal mitochondrial DNA sequence changes in HIV-infected individuals with and without lipoatrophy
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Ortiz, M, Poloni, E S, Furrer, H, Kovari, H, Martinez, R, Arnedo, M, Elzi, L, Bernasconi, E, Vernazza, P, Hirschel, B, Cavassini, M, Ledergerber, B, Günthard, H F, Telenti, A, Tarr, P E, Ortiz, M, Poloni, E S, Furrer, H, Kovari, H, Martinez, R, Arnedo, M, Elzi, L, Bernasconi, E, Vernazza, P, Hirschel, B, Cavassini, M, Ledergerber, B, Günthard, H F, Telenti, A, and Tarr, P E
- Abstract
The potential for mitochondrial (mt) DNA mutation accumulation during antiretroviral therapy (ART), and preferential accumulation in patients with lipoatrophy compared with control participants, remains controversial. We sequenced the entire mitochondrial genome, both before ART and after ART exposure, in 29 human immunodeficiency virus (HIV)-infected Swiss HIV Cohort Study participants initiating a first-line thymidine analogue-containing ART regimen. No accumulation of mtDNA mutations or deletions was detected in 13 participants who developed lipoatrophy or in 16 control participants after significant and comparable ART exposure (median duration, 3.3 and 3.7 years, respectively). In HIV-infected persons, the development of lipoatrophy is unlikely to be associated with accumulation of mtDNA mutations detectable in peripheral blood.
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- 2011
11. A predominantly neolithic origin for Y-chromosomal DNA variation in North Africa
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Arredi, Barbara, Poloni, E, Paracchini, S, Zerjal, Tatiana, Fathallah, Dm, Makrelouf, M, Pascali, Vincenzo Lorenzo, Novelletto, A, Tyler Smith, C., Poloni, Es, Pascali, Vincenzo Lorenzo (ORCID:0000-0001-6520-5224), Arredi, Barbara, Poloni, E, Paracchini, S, Zerjal, Tatiana, Fathallah, Dm, Makrelouf, M, Pascali, Vincenzo Lorenzo, Novelletto, A, Tyler Smith, C., Poloni, Es, and Pascali, Vincenzo Lorenzo (ORCID:0000-0001-6520-5224)
- Abstract
We have typed 275 men from five populations in Algeria, Tunisia, and Egypt with a set of 119 binary markers and 15 microsatellites from the Y chromosome, and we have analyzed the results together with published data from Moroccan populations. North African Y-chromosomal diversity is geographically structured and fits the pattern expected under an isolation-by-distance model. Autocorrelation analyses reveal an east-west cline of genetic variation that extends into the Middle East and is compatible with a hypothesis of demic expansion. This expansion must have involved relatively small numbers of Y chromosomes to account for the reduction in gene diversity towards the West that accompanied the frequency increase of Y haplogroup E3b2, but gene flow must have been maintained to explain the observed pattern of isolation-by-distance. Since the estimates of the times to the most recent common ancestor (TMRCAs) of the most common haplogroups are quite recent, we suggest that the North African pattern of Y-chromosomal variation is largely of Neolithic origin. Thus, we propose that the Neolithic transition in this part of the world was accompanied by demic diffusion of Afro-Asiatic-speaking pastoralists from the Middle East.
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- 2004
12. Rhesus polymorphism in New Caledonia. II. Genetic comparison with other Oceanians
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Alicia SANCHEZ-MAZAS, Pellegrini B, Poloni E, and Fj, Louis
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Polymorphism, Genetic ,Rh-Hr Blood-Group System ,New Caledonia ,Racial Groups ,Black People ,Humans ,Melanesia ,Polynesia ,White People - Abstract
Rhesus haplotype frequencies computed for 804 and 546 Wallisians from New Caledonia are compared to the data collected for 13 Oceanian samples belonging to the same Austronesian linguistic family. Genetic distances are computed between the 15 populations and used for a principal coordinate analysis. Kanaks are genetically close to Fidjians, while the Wallisian sample share a high genetic similarity with the Tonga islanders. The results obtained for the whole area including the Wallis homeland for the Wallisian sample indicate a tight relationship between geographical and genetic differentiations in the Pacific, supported by a high correlation coefficient between the two distance matrices. However, the observed patterns are better explained by the history of migrations reconstructed from archaeological and linguistic data than by a pure isolation-by-distance model.
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- 1994
13. Y-chromosome specific YCAII, DYS19 and YAP polymorphisms in human populations: a comparative study
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QUINTANA-MURCI, L., primary, SEMINO, O., additional, POLONI, E. S., additional, LIU, A., additional, GIJN, M., additional, PASSARINO, G., additional, BREGA, A., additional, NASIDZE, I. S., additional, MACCIONI, L., additional, COSSU, G., additional, AL-ZAHERY, N., additional, KIDD, J. R., additional, KIDD, K. K., additional, and SANTACHIARA-BENERECETTI, A. S., additional
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- 1999
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14. Nuclear DNA polymorphism in a Mandenka population from Senegal: Comparison with eight other human populations
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POLONI, E. S., primary, EXCOFFIER, L., additional, MOUNTAIN, J. L., additional, LANGANEY, A., additional, and CAVALLI-SFORZA, L. L., additional
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- 1995
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15. A homogenizing process of selection has maintained an 'ultra-slow' acetylation NAT2 variant in humans
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Patillon, B., Luisi, P., Poloni, E. S., Boukouvala, S., Darlu, P., Emmanuelle Genin, Sabbagh, A., Mère et enfant en milieu tropical : pathogènes, système de santé et transition épidémiologique (MERIT - UMR_D 216), Institut de Recherche pour le Développement (IRD)-Université Paris Descartes - Paris 5 (UPD5), Génétique épidémiologique et structures des populations humaines (Inserm U535), Epidémiologie, sciences sociales, santé publique (IFR 69), Université Paris 1 Panthéon-Sorbonne (UP1)-Université Paris-Sud - Paris 11 (UP11)-École des hautes études en sciences sociales (EHESS)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Paris 1 Panthéon-Sorbonne (UP1)-Université Paris-Sud - Paris 11 (UP11)-École des hautes études en sciences sociales (EHESS)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM), Institut de Recherche pour le Développement (IRD), Mère et enfant face aux infections tropicales (MERIT - UMR_D 216), Institut de Recherche pour le Développement (IRD) - Université Paris Descartes - Paris 5 (UPD5), Université Panthéon-Sorbonne (UP1) - Université Paris-Sud - Paris 11 (UP11) - École des hautes études en sciences sociales (EHESS) - Assistance publique - Hôpitaux de Paris (AP-HP) - Université Paris Descartes - Paris 5 (UPD5) - Institut National de la Santé et de la Recherche Médicale (INSERM) - Centre National de la Recherche Scientifique (CNRS) - Université Panthéon-Sorbonne (UP1) - Université Paris-Sud - Paris 11 (UP11) - École des hautes études en sciences sociales (EHESS) - Assistance publique - Hôpitaux de Paris (AP-HP) - Université Paris Descartes - Paris 5 (UPD5) - Institut National de la Santé et de la Recherche Médicale (INSERM) - Centre National de la Recherche Scientifique (CNRS) - Institut National de la Santé et de la Recherche Médicale (INSERM), and Université Panthéon-Sorbonne (UP1)-Université Paris-Sud - Paris 11 (UP11)-École des hautes études en sciences sociales (EHESS)-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Panthéon-Sorbonne (UP1)-Université Paris-Sud - Paris 11 (UP11)-École des hautes études en sciences sociales (EHESS)-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)
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Polymorphism, Genetic ,LINKAGE DISEQUILIBRIUM ,Arylamine N-Acetyltransferase ,Genome, Human ,Acetylation polymorphism ,Natural selection ,[SDV]Life Sciences [q-bio] ,Genetic Variation ,Acetylation ,NAT2 ,[SDV] Life Sciences [q-bio] ,ACETYLATION POLYMORPHISM ,Genetics, Population ,Phenotype ,ddc:590 ,Population differentiation ,Linkage disequilibrium ,Humans ,POPULATION DIFFERENTIATION ,Selection, Genetic ,rs1799930 ,Alleles ,NATURAL SELECTION - Abstract
International audience; N-Acetyltransferase 2 (NAT2) is an important enzyme involved in the metabolism of a wide spectrum of naturally occurring xenobiotics, including therapeutic drugs and common environmental carcinogens. Extensive polymorphism in NAT2 gives rise to a wide interindividual variation in acetylation capacity, which influences individual susceptibility to various drug-induced adverse reactions and cancers. Striking patterns of geographic differentiation have been described for the main slow acetylation variants of the NAT2 gene, suggesting the action of natural selection at this locus. In the present study, we took advantage of whole-genome sequence data available from the 1000 Genomes project to investigate the global patterns of population genetic differentiation at NAT2 and determine whether they are atypical compared with the remaining variation of the genome. The nonsynonymous substitution c.590G>A (rs1799930) defining the slow NAT2*6 haplotype cluster exhibited an unusually low FST value compared with the genome average (FST = 0.006, P = 0.016). It was indicated as the most likely target of a homogenizing process of selection promoting the same allelic variant in globally distributed populations. The rs1799930 A allele has been associated with the slowest acetylation capacity in vivo, and its substantial correlation with the subsistence strategy adopted by past human populations suggests that it may have conferred a selective advantage in populations shifting from foraging to agricultural and pastoral activities in the Neolithic period. Results of neutrality tests further supported an adaptive evolution of the NAT2 gene through either balancing selection or directional selection acting on multiple standing slow acetylation variants.
16. Contribution of Genetic Background, Traditional Risk Factors, and HIV-Related Factors to Coronary Artery Disease Events in HIV-Positive Persons
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Rotger, M., Glass, T. R., Junier, T., Lundgren, J., Neaton, J. D., Poloni, E. S., Van 'T Wout, A. B., Lubomirov, R., Colombo, S., Martinez, R., Rauch, Andri, Gunthard, H. F., Neuhaus, J., Wentworth, D., Van Manen, D., Gras, L. A., Schuitemaker, H., Albini, L., Torti, C., Jacobson, L. P., Li, X., Kingsley, L. A., Carli, F., Guaraldi, G., Ford, E. S., Sereti, I., Hadigan, C., Martinez, E., Arnedo, M., Egana-Gorrono, L., Gatell, J. M., Law, M., Bendall, C., Petoumenos, K., Rockstroh, J., Wasmuth, J.-C., Kabamba, K., Delforge, M., De Wit, S., Berger, F., Mauss, S., De Paz Sierra, M., Losso, M., Belloso, W. H., Leyes, M., Campins, A., Mondi, A., De Luca, A., Bernardino, I., Barriuso-Iglesias, M., Torrecilla-Rodriguez, A., Gonzalez-Garcia, J., Arribas, J. R., Fanti, I., Gel, S., Puig, J., Negredo, E., Gutierrez, M., Domingo, P., Fischer, J., Fatkenheuer, G., Alonso-Villaverde, C., Macken, A., Woo, J., McGinty, T., Mallon, P., Mangili, A., Skinner, S., Wanke, C. A., Reiss, P., Weber, R., Bucher, H. C., Fellay, J., Telenti, A., and Tarr, P. E.
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610 Medicine & health ,3. Good health - Abstract
Background Persons infected with human immunodeficiency virus (HIV) have increased rates of coronary artery disease (CAD). The relative contribution of genetic background, HIV-related factors, antiretroviral medications, and traditional risk factors to CAD has not been fully evaluated in the setting of HIV infection. Methods In the general population, 23 common single-nucleotide polymorphisms (SNPs) were shown to be associated with CAD through genome-wide association analysis. Using the Metabochip, we genotyped 1875 HIV-positive, white individuals enrolled in 24 HIV observational studies, including 571 participants with a first CAD event during the 9-year study period and 1304 controls matched on sex and cohort. Results A genetic risk score built from 23 CAD-associated SNPs contributed significantly to CAD (P = 2.9×10−4). In the final multivariable model, participants with an unfavorable genetic background (top genetic score quartile) had a CAD odds ratio (OR) of 1.47 (95% confidence interval [CI], 1.05–2.04). This effect was similar to hypertension (OR = 1.36; 95% CI, 1.06–1.73), hypercholesterolemia (OR = 1.51; 95% CI, 1.16–1.96), diabetes (OR = 1.66; 95% CI, 1.10–2.49), ≥1 year lopinavir exposure (OR = 1.36; 95% CI, 1.06–1.73), and current abacavir treatment (OR = 1.56; 95% CI, 1.17–2.07). The effect of the genetic risk score was additive to the effect of nongenetic CAD risk factors, and did not change after adjustment for family history of CAD. Conclusions In the setting of HIV infection, the effect of an unfavorable genetic background was similar to traditional CAD risk factors and certain adverse antiretroviral exposures. Genetic testing may provide prognostic information complementary to family history of CAD.
17. Human genetic differentiation across the Strait of Gibraltar
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Sanchez-Mazas Alicia, Poloni Estella S, and Currat Mathias
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Evolution ,QH359-425 - Abstract
Abstract Background The Strait of Gibraltar is a crucial area in the settlement history of modern humans because it represents a possible connection between Africa and Europe. So far, genetic data were inconclusive about the fact that this strait constitutes a barrier to gene flow, as previous results were highly variable depending on the genetic locus studied. The present study evaluates the impact of the Gibraltar region in reducing gene flow between populations from North-Western Africa and South-Western Europe, by comparing formally various genetic loci. First, we compute several statistics of population differentiation. Then, we use an original simulation approach in order to infer the most probable evolutionary scenario for the settlement of the area, taking into account the effects of both demography and natural selection at some loci. Results We show that the genetic patterns observed today in the region of the Strait of Gibraltar may reflect an ancient population genetic structure which has not been completely erased by more recent events such as Neolithic migrations. Moreover, the differences observed among the loci (i.e. a strong genetic boundary revealed by the Y-chromosome polymorphism and, at the other extreme, no genetic differentiation revealed by HLA-DRB1 variation) across the strait suggest specific evolutionary histories like sex-mediated migration and natural selection. By considering a model of balancing selection for HLA-DRB1, we here estimate a coefficient of selection of 2.2% for this locus (although weaker in Europe than in Africa), which is in line with what was estimated from synonymous versus non-synonymous substitution rates. Selection at this marker thus appears strong enough to leave a signature not only at the DNA level, but also at the population level where drift and migration processes were certainly relevant. Conclusions Our multi-loci approach using both descriptive analyses and Bayesian inferences lead to better characterize the role of the Strait of Gibraltar in the evolution of modern humans. We show that gene flow across the Strait of Gibraltar occurred at relatively high rates since pre-Neolithic times and that natural selection and sex-bias migrations distorted the demographic signal at some specific loci of our genome.
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- 2010
- Full Text
- View/download PDF
18. Worldwide distribution of NAT2 diversity: Implications for NAT2 evolutionary history
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Gérard Nathalie, Darlu Pierre, Langaney André, Sabbagh Audrey, Krishnamoorthy Rajagopal, and Poloni Estella S
- Subjects
Genetics ,QH426-470 - Abstract
Abstract Background The N-acetyltransferase 2 (NAT2) gene plays a crucial role in the metabolism of many drugs and xenobiotics. As it represents a likely target of population-specific selection pressures, we fully sequenced the NAT2 coding region in 97 Mandenka individuals from Senegal, and compared these sequences to extant data on other African populations. The Mandenka data were further included in a worldwide dataset composed of 41 published population samples (6,727 individuals) from four continental regions that were adequately genotyped for all common NAT2 variants so as to provide further insights into the worldwide haplotype diversity and population structure at NAT2. Results The sequencing analysis of the NAT2 gene in the Mandenka sample revealed twelve polymorphic sites in the coding exon (two of which are newly identified mutations, C345T and C638T), defining 16 haplotypes. High diversity and no molecular signal of departure from neutrality were observed in this West African sample. On the basis of the worldwide genotyping survey dataset, we found a strong genetic structure differentiating East Asians from both Europeans and sub-Saharan Africans. This pattern could result from region- or population-specific selective pressures acting at this locus, as further suggested in the HapMap data by extremely high values of FST for a few SNPs positions in the NAT2 coding exon (T341C, C481T and A803G) in comparison to the empirical distribution of FST values accross the whole 400-kb region of the NAT gene family. Conclusion Patterns of sequence variation at NAT2 are consistent with selective neutrality in all sub-Saharan African populations investigated, whereas the high level of population differentiation between Europeans and East Asians inferred from SNPs could suggest population-specific selective pressures acting at this locus, probably caused by differences in diet or exposure to other environmental signals.
- Published
- 2008
- Full Text
- View/download PDF
19. A Homogenizing Process of Selection Has Maintained an “Ultra-Slow” Acetylation NAT2 Variant in Humans
- Author
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Patillon, B., Luisi, P., Poloni, E. S., Boukouvala, S., Darlu, P., Genin, E., and Sabbagh, A.
- Published
- 2014
- Full Text
- View/download PDF
20. Inorganic/Inorganic Composites Through Emulsion Templating.
- Author
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Jiang T, Zhou S, Hong Y, Poloni E, Saiz E, and Bouville F
- Abstract
Inorganic/inorganic composites are found in multiple applications crucial for the energy transition, from nuclear reactors to energy storage devices. Their microstructures dictate their properties from mass transport to fracture resistance. Consequently, there has been a multitude of processes developed to control them, from powder mixing and the use of short or long fibers, to tape casting for laminates up to recent 3D printing. Here, emulsions and slip casting are combined into a simpler, broadly available, inexpensive processing platform that allows for in situ control of composite microstructure while also enabling complex 3D shaping. This study shows that slip casting of emulsions triggers a two-step solvent removal, opening the possibility for the conformal coating of pores. This process is showcased by producing strong and lightweight alumina scaffolds reinforced by a conformal zirconia coating. In addition, by manipulating magnetically responsive droplets, their distribution can be controlled, allowing for the formation of inorganic fibers inside an inorganic matrix in situ during slip casting. Using this approach, alumina has been reinforced with aligned metallic iron fibers to prepare composites with a work of fracture an order of magnitude higher than the pure ceramics., (© 2024 The Author(s). Advanced Materials published by Wiley‐VCH GmbH.)
- Published
- 2024
- Full Text
- View/download PDF
21. An open carbon-phenolic ablator for scientific exploration.
- Author
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Poloni E, Grigat F, Eberhart M, Leiser D, Sautière Q, Ravichandran R, Delahaie S, Duernhofer C, Hoerner I, Hufgard F, and Loehle S
- Abstract
Space exploration missions rely on ablative heat shields for the thermal protection of spacecraft during atmospheric entry flights. While dedicated research is needed for future missions, the scientific community has limited access to ablative materials typically used in aerospace. In this paper, we report the development of the HEFDiG Ablation-Research Laboratory Experiment Material (HARLEM), a carbon-phenolic ablator designed to supply the need for ablative materials in laboratory experiments. HARLEM is manufactured using polyacrylonitrile-based carbon fiber preforms and a simplified processing route for phenolic impregnation. We characterized the thermal protection performance of HARLEM in arcjet experiments conducted in the plasma wind tunnel PWK1 of the Institute of Space Systems at the University of Stuttgart. We assessed the performance of the new material by measuring surface recession rate and temperature using photogrammetry and thermography setups during the experiments, respectively. Our results show that HARLEM's thermal protection performance is comparable to legacy carbon-phenolic ablators that have been validated in different arcjet facilities or in-flight, as demonstrated by calculations of the effective heat of ablation and scanning electron microscopy of as-produced samples. In-house manufacturing of carbon-phenolic ablators enables the addition of embedded diagnostics to ablators, allowing for the acquisition of data on internal pressure and more sophisticated pyrolysis analysis techniques., (© 2023. Springer Nature Limited.)
- Published
- 2023
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22. Nacre-like composites with superior specific damping performance.
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Woigk W, Poloni E, Grossman M, Bouville F, Masania K, and Studart AR
- Subjects
- Minerals chemistry, Biomimetic Materials, Nacre
- Abstract
Biological materials such as nacre have evolved microstructural design principles that result in outstanding mechanical properties. While nacre's design concepts have led to bio-inspired materials with enhanced fracture toughness, the microstructural features underlying the remarkable damping properties of this biological material have not yet been fully explored in synthetic composites. Here, we study the damping behavior of nacre-like composites containing mineral bridges and platelet asperities as nanoscale structural features within its brick-and-mortar architecture. Dynamic mechanical analysis was performed to experimentally elucidate the role of these features on the damping response of the nacre-like composites. By enhancing stress transfer between platelets and at the brick/mortar interface, mineral bridges and nano-asperities were found to improve the damping performance of the composite to levels that surpass many biological and man-made materials. Surprisingly, the improved properties are achieved without reaching the perfect organization of the biological counterparts. Our nacre-like composites display a loss modulus 2.4-fold higher than natural nacre and 1.4-fold more than highly dissipative natural fiber composites. These findings shed light on the role of nanoscale structural features on the dynamic mechanical properties of nacre and offer design concepts for the manufacturing of bio-inspired composites for high-performance damping applications.
- Published
- 2022
- Full Text
- View/download PDF
23. Three-dimensional printing of photonic colloidal glasses into objects with isotropic structural color.
- Author
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Demirörs AF, Poloni E, Chiesa M, Bargardi FL, Binelli MR, Woigk W, de Castro LDC, Kleger N, Coulter FB, Sicher A, Galinski H, Scheffold F, and Studart AR
- Abstract
Structural color is frequently exploited by living organisms for biological functions and has also been translated into synthetic materials as a more durable and less hazardous alternative to conventional pigments. Additive manufacturing approaches were recently exploited for the fabrication of exquisite photonic objects, but the angle-dependence observed limits a broader application of structural color in synthetic systems. Here, we propose a manufacturing platform for the 3D printing of complex-shaped objects that display isotropic structural color generated from photonic colloidal glasses. Structurally colored objects are printed from aqueous colloidal inks containing monodisperse silica particles, carbon black, and a gel-forming copolymer. Rheology and Small-Angle-X-Ray-Scattering measurements are performed to identify the processing conditions leading to printed objects with tunable structural colors. Multimaterial printing is eventually used to create complex-shaped objects with multiple structural colors using silica and carbon as abundant and sustainable building blocks., (© 2022. The Author(s).)
- Published
- 2022
- Full Text
- View/download PDF
24. Sustainable wood electronics by iron-catalyzed laser-induced graphitization for large-scale applications.
- Author
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Dreimol CH, Guo H, Ritter M, Keplinger T, Ding Y, Günther R, Poloni E, Burgert I, and Panzarasa G
- Subjects
- Catalysis, Electronics, Lasers, Iron, Wood
- Abstract
Ecologically friendly wood electronics will help alleviating the shortcomings of state-of-art cellulose-based "green electronics". Here we introduce iron-catalyzed laser-induced graphitization (IC-LIG) as an innovative approach for engraving large-scale electrically conductive structures on wood with very high quality and efficiency, overcoming the limitations of conventional LIG including high ablation, thermal damages, need for multiple lasing steps, use of fire retardants and inert atmospheres. An aqueous bio-based coating, inspired by historical iron-gall ink, protects wood from laser ablation and thermal damage while promoting efficient graphitization and smoothening substrate irregularities. Large-scale (100 cm
2 ), highly conductive (≥2500 S m-1 ) and homogeneous surface areas are engraved single-step in ambient atmosphere with a conventional CO2 laser, even on very thin (∼450 µm) wood veneers. We demonstrate the validity of our approach by turning wood into highly durable strain sensors, flexible electrodes, capacitive touch panels and an electroluminescent LIG-based device., (© 2022. The Author(s).)- Published
- 2022
- Full Text
- View/download PDF
25. Stretchable Soft Composites with Strain-Induced Architectured Color.
- Author
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Poloni E, Rafsanjani A, Place V, Ferretti D, and Studart AR
- Subjects
- Humans, Optics and Photonics, Polymers chemistry, Robotics
- Abstract
Colors enable interaction and communication between living species in a myriad of biological and artificial environments. While living organisms feature low-power mechanisms to dynamically control color in soft tissues, man-made color-changing devices remain predominantly rigid and energy intensive. Here, architectured composites that display striking color changes when stretched in selective directions under ambient light with minimum power input are reported. The orientation-dependent color change results from the rotation of reflective coated platelets that are embedded in a soft polymer matrix and pre-aligned in a well-defined architecture. The light reflected by the platelets generates structural color defined by the oxide coating on the platelet surface. By magnetically programming the initial orientation and spatial distribution of selected platelets within the soft matrix, composites with strain-modulated color-changing effects that cannot be achieved using state-of-the-art technologies are created. The proposed concept of strain-induced architectured color can be harnessed to develop low-power smart stretchable displays, tactile synthetic skins, and autonomous soft robotic devices that undergo fast and reversible color changes through the mechano-optic coupling programmed within their soft composite architecture., (© 2021 The Authors. Advanced Materials published by Wiley-VCH GmbH.)
- Published
- 2022
- Full Text
- View/download PDF
26. Magnetic Manipulation of Nanowires for Engineered Stretchable Electronics.
- Author
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Llerena Zambrano B, Forró C, Poloni E, Hennig R, Sivananthaguru P, Renz AF, Studart AR, and Vörös J
- Abstract
Nanowires are often key ingredients of high-tech composite materials. The properties and performance of devices created using these, depend heavily on the structure and density of the embedded nanowires. Despite significant efforts, a process that can be adapted to different materials, compatible with current nanowire deposition methods, and that is able to control both variables simultaneously has not been achieved yet. In this work, we show that we can use low magnetic fields (80 mT) to manipulate nanowires by electrostatically coating them with superparamagnetic iron oxide nanoparticles in an aqueous solution. Monolayers, multilayers, and hierarchical structures of oriented nanowires were achieved in a highly ordered manner using vacuum filtration for two types of nanowires: silver and gold-coated titanium dioxide nanowires. The produced films were embedded in an elastomer, and the strain-dependent electrical properties of the resulting composites were investigated. The orientation of the assembly with respect to the tensile strain heavily impacts the performance of the composites. Composites containing nanowires perpendicular to the strain direction exhibit an extremely low gauge factor. On the other hand, when nanowires are arranged parallel to the strain direction, the composites have a high gauge factor. The possibility to orient nanowires during the processing steps is not only interesting for the shown strain sensing application but also expected to be useful in many other areas of material science.
- Published
- 2022
- Full Text
- View/download PDF
27. Programmable droplet manipulation and wetting with soft magnetic carpets.
- Author
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Demirörs AF, Aykut S, Ganzeboom S, Meier YA, and Poloni E
- Abstract
The ability to regulate interfacial and wetting properties is highly demanded in anti-icing, anti-biofouling, and medical and energy applications. Recent work on liquid-infused systems achieved switching wetting properties, which allow us to turn between slip and pin states. However, patterning the wetting of surfaces in a dynamic fashion still remains a challenge. In this work, we use programmable wetting to activate and propel droplets over large distances. We achieve this with liquid-infused soft magnetic carpets (SMCs) that consist of pillars that are responsive to external magnetic stimuli. Liquid-infused SMCs, which are sticky for a water droplet, become slippery upon application of a magnetic field. Application of a patterned magnetic field results in a patterned wetting on the SMC. A traveling magnetic field wave translates the patterned wetting on the substrate, which allows droplet manipulation. The droplet speed increases with an increased contact angle and with the droplet size, which offers a potential method to sort and separate droplets with respect to their contact angle or size. Furthermore, programmable control of the droplet allows us to conduct reactions by combining droplets loaded with reagents. Such an ability of conducting small-scale reactions on SMCs has the potential to be used for automated analytical testing, diagnostics, and screening, with a potential to reduce the chemical waste., Competing Interests: The authors declare no competing interest., (Copyright © 2021 the Author(s). Published by PNAS.)
- Published
- 2021
- Full Text
- View/download PDF
28. Amphibious Transport of Fluids and Solids by Soft Magnetic Carpets.
- Author
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Demirörs AF, Aykut S, Ganzeboom S, Meier YA, Hardeman R, de Graaf J, Mathijssen AJTM, Poloni E, Carpenter JA, Ünlü C, and Zenhäusern D
- Subjects
- Artificial Organs, Cilia physiology, Elasticity, Magnetic Fields, Robotics, Viscosity, Hydrodynamics, Magnetics
- Abstract
One of the major challenges in modern robotics is controlling micromanipulation by active and adaptive materials. In the respiratory system, such actuation enables pathogen clearance by means of motile cilia. While various types of artificial cilia have been engineered recently, they often involve complex manufacturing protocols and focus on transporting liquids only. Here, soft magnetic carpets are created via an easy self-assembly route based on the Rosensweig instability. These carpets can transport not only liquids but also solid objects that are larger and heavier than the artificial cilia, using a crowd-surfing effect.This amphibious transportation is locally and reconfigurably tunable by simple micromagnets or advanced programmable magnetic fields with a high degree of spatial resolution. Two surprising cargo reversal effects are identified and modeled due to collective ciliary motion and nontrivial elastohydrodynamics. While the active carpets are generally applicable to integrated control systems for transport, mixing, and sorting, these effects can also be exploited for microfluidic viscosimetry and elastometry., (© 2021 The Authors. Advanced Science published by Wiley-VCH GmbH.)
- Published
- 2021
- Full Text
- View/download PDF
29. Tough metal-ceramic composites with multifunctional nacre-like architecture.
- Author
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Poloni E, Bouville F, Dreimol CH, Niebel TP, Weber T, Biedermann AR, Hirt AM, and Studart AR
- Abstract
The brick-and-mortar architecture of biological nacre has inspired the development of synthetic composites with enhanced fracture toughness and multiple functionalities. While the use of metals as the "mortar" phase is an attractive option to maximize fracture toughness of bulk composites, non-mechanical functionalities potentially enabled by the presence of a metal in the structure remain relatively limited and unexplored. Using iron as the mortar phase, we develop and investigate nacre-like composites with high fracture toughness and stiffness combined with unique magnetic, electrical and thermal functionalities. Such metal-ceramic composites are prepared through the sol-gel deposition of iron-based coatings on alumina platelets and the magnetically-driven assembly of the pre-coated platelets into nacre-like architectures, followed by pressure-assisted densification at 1450 °C. With the help of state-of-the-art characterization techniques, we show that this processing route leads to lightweight inorganic structures that display outstanding fracture resistance, show noticeable magnetization and are amenable to fast induction heating. Materials with this set of properties might find use in transport, aerospace and robotic applications that require weight minimization combined with magnetic, electrical or thermal functionalities.
- Published
- 2021
- Full Text
- View/download PDF
30. Photonic response and temperature evolution of SiO 2 /TiO 2 multilayers.
- Author
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Christidis G, Fabrichnaya OB, Koepfli SM, Poloni E, Winiger J, Fedoryshyn YM, Gusarov AV, Ilatovskaia M, Saenko I, Savinykh G, Shklover V, and Leuthold J
- Abstract
The microstructural and optical reflectivity response of photonic SiO
2 /TiO2 nanomultilayers have been investigated as a function of temperature and up to the material system's melting point. The nanomultilayers exhibit high, broadband reflectivities up to 1350 °C with values that exceed 75% for a 1 μm broad wavelength range (600-1600 nm). The optimized nanometer sized, dielectric multilayers undergo phase transformations from anatase TiO2 and amorphous SiO2 to the thermodynamically stable phases, rutile and cristobalite, respectively, that alter their structural morphology from the initial multilayers to that of a scatterer. Nonetheless, they retain their photonic characteristics, when characterized on top of selected substrate foils. The thermal behavior of the nanometer sized multilayers has been investigated by differential thermal analysis (DTA) and compared to that of commercially available, mm-sized, annealed powders. The same melting reactions were observed, but the temperatures were lower for the nm-sized samples. The samples were characterized using X-ray powder diffraction before DTA and after annealing at temperatures of 1350 and 1700 °C. The microstructural evolution and phase compositions were investigated by scanning electron microscopy and energy-dispersive X-ray spectroscopy measurements. The limited mutual solubility of one material to another, in combination with the preservation of their optical reflectivity response even after annealing, makes them an interesting material system for high-temperature, photonic coatings, such as photovoltaics, aerospace re-entry and gas turbines, where ultra-high temperatures and intense thermal radiation are present., Supplementary Information: The online version contains supplementary material available at 10.1007/s10853-021-06557-y., Competing Interests: Conflict of interestAll authors declare that they have no competing financial interests or personal relationships that could have appeared to influence the work reported in this paper., (© The Author(s) 2021.)- Published
- 2021
- Full Text
- View/download PDF
31. Broadband, High-Temperature Stable Reflector for Aerospace Thermal Radiation Protection.
- Author
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Christidis G, Koch U, Poloni E, Leo E, Cheng B, Koepfli SM, Dorodnyy A, Bouville F, Fedoryshyn Y, Shklover V, and Leuthold J
- Abstract
A simple and thermally stable photonic heterostructure exhibiting high average reflectivity (⟨ R ⟩ ≈ 88.8%) across a broad wavelength range (920-1450 nm) is presented. The design combines a thin, highly reflective and broadband metallic substrate (Ta) with an optimized dielectric coating (10 layers) to create an enhanced reflector with improved optical and thermal properties compared to its constituents. The heterostructure exhibits temperature-reversible reflective properties up to 1000 °C. In order to take advantage of the high reflectivity and temperature stable properties of this coating, in a wide range of non-photonic composite materials, we have fabricated heterostructure platelets as additives. By impregnating these additives into other types of materials, their response can be photonically enhanced. Platelets of such a heterostructure have been introduced inside an organic matrix to increase its broadband reflection performance. The platelet-impregnated matrix displays an average reflectivity improvement from 5% to an average of 55% over a 1000 nm range, making it a suitable additive for next generation thermal protection systems (TPS).
- Published
- 2020
- Full Text
- View/download PDF
32. Active cargo transport with Janus colloidal shuttles using electric and magnetic fields.
- Author
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Demirörs AF, Akan MT, Poloni E, and Studart AR
- Abstract
Active colloids show non-equilibrium behavior that departs from classical Brownian motion, thus providing a platform for novel fundamental phenomena and for enticing possible applications ranging from water treatment to medicine and microrobotics. Although the physics, motion mechanisms and guidance have been extensively investigated, active colloids are rarely exploited to simultaneously guide and transport micron-sized objects in a controllable and reversible manner. Here, we use autonomous active Janus particles as colloidal shuttles to controllably transport cargo at the microscale using external electric and magnetic fields. The active motion arises from the metallodielectric characteristics of the Janus particles, which allows them to also trap, transport and release cargo particles through dielectrophoretic interactions induced by an AC electric field. The ferromagnetic nature of the nickel layer that forms the metallic hemisphere of the Janus colloids provides an additional mechanism to direct the motion of the shuttle using an external magnetic field. With this highly programmable colloidal system, we are able to harness active colloid motion and use it to transport cargo particles to specific destinations through a pre-defined route. A simple analytical model is derived to successfully describe the motion of the shuttle-cargo assembly in response to the applied electrical field. The high level of control on cargo pick-up, transport and release leads to a powerful delivery tool, which could eventually be used in microactuators, microfluidics or for controlled delivery within organ-on-a-chip devices.
- Published
- 2018
- Full Text
- View/download PDF
33. Maternal and paternal lineages in Albania and the genetic structure of Indo-European populations.
- Author
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Belledi M, Poloni ES, Casalotti R, Conterio F, Mikerezi I, Tagliavini J, and Excoffier L
- Subjects
- Albania epidemiology, Ethnicity classification, Europe epidemiology, Evolution, Molecular, Gene Frequency, Genetic Markers, Humans, Sequence Analysis, DNA, DNA, Mitochondrial genetics, Ethnicity genetics, Genetics, Population, Genomic Imprinting genetics, Language, White People genetics, Y Chromosome genetics
- Abstract
Mitochondrial DNA HV1 sequences and Y chromosome haplotypes (DYS19 STR and YAP) were characterised in an Albanian sample and compared with those of several other Indo-European populations from the European continent. No significant difference was observed between Albanians and most other Europeans, despite the fact that Albanians are clearly different from all other Indo-Europeans linguistically. We observe a general lack of genetic structure among Indo-European populations for both maternal and paternal polymorphisms, as well as low levels of correlation between linguistics and genetics, even though slightly more significant for the Y chromosome than for mtDNA. Altogether, our results show that the linguistic structure of continental Indo-European populations is not reflected in the variability of the mitochondrial and Y chromosome markers. This discrepancy could be due to very recent differentiation of Indo-European populations in Europe and/or substantial amounts of gene flow among these populations.
- Published
- 2000
- Full Text
- View/download PDF
34. Human genetic affinities for Y-chromosome P49a,f/TaqI haplotypes show strong correspondence with linguistics.
- Author
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Poloni ES, Semino O, Passarino G, Santachiara-Benerecetti AS, Dupanloup I, Langaney A, and Excoffier L
- Subjects
- DNA Probes, DNA, Mitochondrial genetics, Deoxyribonucleases, Type II Site-Specific metabolism, Female, Genetic Markers genetics, Genetics, Population, Geography, Humans, Linguistics, Male, Multivariate Analysis, Polymorphism, Restriction Fragment Length, Haplotypes genetics, Language, Polymorphism, Genetic genetics, Y Chromosome genetics
- Abstract
Numerous population samples from around the world have been tested for Y chromosome-specific p49a,f/TaqI restriction polymorphisms. Here we review the literature as well as unpublished data on Y-chromosome p49a,f/TaqI haplotypes and provide a new nomenclature unifying the notations used by different laboratories. We use this large data set to study worldwide genetic variability of human populations for this paternally transmitted chromosome segment. We observe, for the Y chromosome, an important level of population genetics structure among human populations (FST = .230, P < .001), mainly due to genetic differences among distinct linguistic groups of populations (FCT = .246, P < .001). A multivariate analysis based on genetic distances between populations shows that human population structure inferred from the Y chromosome corresponds broadly to language families (r = .567, P < .001), in agreement with autosomal and mitochondrial data. Times of divergence of linguistic families, estimated from their internal level of genetic differentiation, are fairly concordant with current archaeological and linguistic hypotheses. Variability of the p49a,f/TaqI polymorphic marker is also significantly correlated with the geographic location of the populations (r = .613, P < .001), reflecting the fact that distinct linguistic groups generally also occupy distinct geographic areas. Comparison of Y-chromosome and mtDNA RFLPs in a restricted set of populations shows a globally high level of congruence, but it also allows identification of unequal maternal and paternal contributions to the gene pool of several populations.
- Published
- 1997
- Full Text
- View/download PDF
35. Absence of the hemochromatosis gene Cys282Tyr mutation in three ethnic groups from Algeria (Mzab), Ethiopia, and Senegal.
- Author
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Roth M, Giraldo P, Hariti G, Poloni ES, Sanchez-Mazas A, Stefano GF, Dugoujon JM, and Coppin H
- Subjects
- Algeria, Ethiopia, Ethnicity, Humans, Point Mutation, Senegal, Hemochromatosis genetics
- Abstract
A Celtic origin for hemochromatosis, a common genetic iron metabolism disorder, has been postulated for a long time. To check whether the two mutations recently identified in the HLA-class I candidate gene for this disease were found only in Caucasians, we examined their frequencies in individuals originating from Algeria, Ethiopia, and Senegal. The presumably disease-causing mutation, responsible for the Cys282Tyr substitution, was not found in any member of these ethnic groups, although it was shown to be highly prevalent in populations of European ancestry. This geographic distribution supports the previously suggested Celtic origin for the disease. In contrast, the mutation responsible for the His63Asp substitution is not restricted to European populations. Although absent in the Senegalese, it was found on about 9% of the chromosomes of the Central Ethiopians and Algerians (Mzab) genotyped for this study. This second mutation, which probably represents a common variant unrelated to hemochromatosis, thus appears to have occurred earlier than that responsible for the Cys282Tyr substitution. More detailed population studies are needed to provide information on the age of these two mutations and eventually show how the hemochromatosis-causing mutation chronologically spread throughout Europe.
- Published
- 1997
- Full Text
- View/download PDF
36. Rhesus polymorphism in New Caledonia. II. Genetic comparison with other Oceanians.
- Author
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Sanchez-Mazas A, Pellegrini B, Poloni E, and Louis FJ
- Subjects
- Black People genetics, Humans, Melanesia, New Caledonia, Polynesia, White People genetics, Polymorphism, Genetic, Racial Groups genetics, Rh-Hr Blood-Group System genetics
- Abstract
Rhesus haplotype frequencies computed for 804 and 546 Wallisians from New Caledonia are compared to the data collected for 13 Oceanian samples belonging to the same Austronesian linguistic family. Genetic distances are computed between the 15 populations and used for a principal coordinate analysis. Kanaks are genetically close to Fidjians, while the Wallisian sample share a high genetic similarity with the Tonga islanders. The results obtained for the whole area including the Wallis homeland for the Wallisian sample indicate a tight relationship between geographical and genetic differentiations in the Pacific, supported by a high correlation coefficient between the two distance matrices. However, the observed patterns are better explained by the history of migrations reconstructed from archaeological and linguistic data than by a pure isolation-by-distance model.
- Published
- 1994
37. [Results of studying the adaptation of children in nurseries (proceedings)].
- Author
-
Poloni E
- Subjects
- Adaptation, Psychological physiology, Child, Preschool, Humans, Hungary, Nurseries, Infant, Social Adjustment
- Published
- 1979
38. [Clinical study on the use of chloramphenicol in typhoid].
- Author
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BALESTRERI G and POLONI E
- Subjects
- Humans, Biomedical Research, Chloramphenicol, Typhoid Fever, Typhoid-Paratyphoid Vaccines
- Published
- 1951
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