Search

Your search keyword '"Luzzi, Anna"' showing total 19 results
Start Over Author "Luzzi, Anna" Publication Year Range Last 10 years
19 results on '"Luzzi, Anna"'

1. Anakinra in Sanfilippo syndrome: a phase 1/2 trial.

Author

Polgreen, Lynda, Chen, Agnes, Pak, Youngju, Luzzi, Anna, Morales Garval, Adolfo, Acevedo, Jonathan, Bitan, Gal, Iacovino, Michelina, ONeill, Cara, and Eisengart, Julie

Subjects
Humans, Interleukin 1 Receptor Antagonist Protein, Child, Adolescent, Male, Adult, Female, Young Adult, Mucopolysaccharidosis III, Quality of Life, Treatment Outcome
Abstract

Sanfilippo syndrome is a fatal childhood neurodegenerative disorder involving neuroinflammation among multiple pathologies. We hypothesized that anakinra, a recombinant interleukin-1 receptor antagonist, could improve neurobehavioral and functional symptoms owing to its capacity to treat neuroinflammation. This phase 1/2 trial aimed to test the safety, tolerability and effects of anakinra on neurobehavioral, functional and quality-of-life outcomes in patients and their caregivers. The primary outcome was the percent of participants requiring a dose increase at week 8 or week 16. Secondary efficacy outcomes included a multi-domain responder index (MDRI). Twenty-three participants (6-26 years of age) were enrolled. Twenty continued treatment to week 8, and 15 (75%) required an increased dose at week 8 or week 16. There was an improvement in at least one domain in the MDRI in 18 of 21 (86%) at week 8 and in 15 of 16 (94%) at week 36. Seven participants withdrew (intolerability of daily injections and lost to follow-up) before week 36. Adverse events occurred in 22 of 23 (96%) participants, most commonly mild injection site reactions. No serious adverse events were related to anakinra. In conclusion, anakinra was safe and associated with improved neurobehavioral and functional outcomes, supporting continued investigation of anakinra in Sanfilippo syndrome and other mucopolysaccharidoses. ClinicalTrials.gov identifier: NCT04018755 .

Published
2024

5. Notch activation is required for downregulation of HoxA3-dependent endothelial cell phenotype during blood formation.

Author

Sanghez, Valentina, Luzzi, Anna, Clarke, Don, Kee, Dustin, Beuder, Steven, Rux, Danielle, Osawa, Mitsujiro, Madrenas, Joaquín, Chou, Tsui-Fen, Kyba, Michael, and Iacovino, Michelina

Subjects
Endothelial Cells, Animals, Mice, Homeodomain Proteins, Signal Transduction, Hematopoiesis, Down-Regulation, Receptors, Notch, Jagged-1 Protein, General Science & Technology
Abstract

Hemogenic endothelium (HE) undergoes endothelial-to-hematopoietic transition (EHT) to generate blood, a process that requires progressive down-regulation of endothelial genes and induction of hematopoietic ones. Previously, we have shown that the transcription factor HoxA3 prevents blood formation by inhibiting Runx1 expression, maintaining endothelial gene expression and thus blocking EHT. In the present study, we show that HoxA3 also prevents blood formation by inhibiting Notch pathway. HoxA3 induced upregulation of Jag1 ligand in endothelial cells, which led to cis-inhibition of the Notch pathway, rendering the HE nonresponsive to Notch signals. While Notch activation alone was insufficient to promote blood formation in the presence of HoxA3, activation of Notch or downregulation of Jag1 resulted in a loss of the endothelial phenotype which is a prerequisite for EHT. Taken together, these results demonstrate that Notch pathway activation is necessary to downregulate endothelial markers during EHT.

Published
2017

6. New blood-based biomarkers for Sanfilippo syndrome

Author

Bitan, Gal, primary, Taha, Hash Brown, additional, Siddique, Ibrar, additional, Chamoun, Lea M., additional, Mohseni, Kimia, additional, Morris, Alanna J., additional, Luzzi, Anna, additional, Acevedo, Jonathan, additional, Morales, Adolfo, additional, de la Garza, Giselle Perez, additional, Nour, Elabed, additional, Khijniak, Marie, additional, Fenwick, Leony, additional, Chen, Agnes, additional, Iacovino, Michelina, additional, O'Neill, Cara, additional, Eisengart, Julie B., additional, and Polgreen, Lynda, additional

Published
2024
Full Text
View/download PDF

12. Genetically corrected iPSC-derived Neural Stem Cell Grafts deliver NAGLU-IGFII fusion protein to affect CNS disease in Sanfilippo B Mice

Author

Pearse, Yewande, primary, Clarke, Don, additional, Kan, Shih-hsin, additional, Le, Steven Q, additional, Sanghez, Valentina, additional, Luzzi, Anna, additional, Pham, Ivy, additional, Nih, Lina R, additional, Cooper, Jonathan D, additional, Dickson, Patricia, additional, and Iacovino, Michelina, additional

Published
2022
Full Text
View/download PDF

15. Multi-ancestry genome-wide gene-smoking interaction study of 387,272 individuals identifies new loci associated with serum lipids

Author

Bentley, Amy R, Sung, Yun J, Brown, Michael R, Winkler, Thomas W, Kraja, Aldi T, Ntalla, Ioanna, Schwander, Karen, Chasman, Daniel I, Lim, Elise, Deng, Xuan, Guo, Xiuqing, Liu, Jingmin, Lu, Yingchang, Cheng, Ching-Yu, Sim, Xueling, Vojinovic, Dina, Huffman, Jennifer E, Musani, Solomon K, Li, Changwei, Feitosa, Mary F, Richard, Melissa A, Noordam, Raymond, Baker, Jenna, Chen, Guanjie, Aschard, Hugues, Bartz, Traci M, Ding, Jingzhong, Dorajoo, Rajkumar, Manning, Alisa K, Rankinen, Tuomo, Smith, Albert V, Tajuddin, Salman M, Zhao, Wei, Graff, Mariaelisa, Alver, Maris, Boissel, Mathilde, Chai, Jin Fang, Chen, Xu, Divers, Jasmin, Evangelou, Evangelos, Gao, Chuan, Goel, Anuj, Hagemeijer, Yanick, Harris, Sarah E, Hartwig, Fernando P, He, Meian, Horimoto, Andrea RVR, Hsu, Fang-Chi, Hung, Yi-Jen, Jackson, Anne U, Kasturiratne, Anuradhani, Komulainen, Pirjo, Kuehnel, Brigitte, Leander, Karin, Lin, Keng-Hung, Luan, Jian'an, Lyytikainen, Leo-Pekka, Matoba, Nana, Nolte, Ilja M, Pietzner, Maik, Prins, Bram, Riaz, Muhammad, Robino, Antonietta, Said, M Abdullah, Schupf, Nicole, Scott, Robert A, Sofer, Tamar, Stancakova, Alena, Takeuchi, Fumihiko, Tayo, Bamidele O, van der Most, Peter J, Varga, Tibor V, Wang, Tzung-Dau, Wang, Yajuan, Ware, Erin B, Wen, Wanqing, Xiang, Yong-Bing, Yanek, Lisa R, Zhang, Weihua, Zhao, Jing Hua, Adeyemo, Adebowale, Afaq, Saima, Amin, Najaf, Amini, Marzyeh, Arking, Dan E, Arzumanyan, Zorayr, Aung, Tin, Ballantyne, Christie, Barr, R Graham, Bielak, Lawrence F, Boerwinkle, Eric, Bottinger, Erwin P, Broeckel, Ulrich, Brown, Morris, Cade, Brian E, Campbell, Archie, Canouil, Mickael, Charumathi, Sabanayagam, Chen, Yii-Der Ida, Christensen, Kaare, Concas, Maria Pina, Connell, John M, de las Fuentes, Lisa, de Silva, H Janaka, de Vries, Paul S, Doumatey, Ayo, Duan, Qing, Eaton, Charles B, Eppinga, Ruben N, Faul, Jessica D, Floyd, James S, Forouhi, Nita G, Forrester, Terrence, Friedlander, Yechiel, Gandin, Ilaria, Gao, He, Ghanbari, Mohsen, Gharib, Sina A, Gigante, Bruna, Giulianini, Franco, Grabe, Hans J, Gu, C Charles, Harris, Tamara B, Heikkinen, Sami, Heng, Chew-Kiat, Hirata, Makoto, Hixson, James E, Ikram, M Arfan, Jia, Yucheng, Joehanes, Roby, Johnson, Craig, Jonas, Jost Bruno, Justice, Anne E, Katsuya, Tomohiro, Khor, Chiea Chuen, Kilpelainen, Tuomas O, Koh, Woon-Puay, Kolcic, Ivana, Kooperberg, Charles, Krieger, Jose E, Kritchevsky, Stephen B, Kubo, Michiaki, Kuusisto, Johanna, Lakka, Timo A, Langefeld, Carl D, Langenberg, Claudia, Launer, Lenore J, Lehne, Benjamin, Lewis, Cora E, Li, Yize, Liang, Jingjing, Lin, Shiow, Liu, Ching-Ti, Liu, Jianjun, Liu, Kiang, Loh, Marie, Lohman, Kurt K, Louie, Tin, Luzzi, Anna, Magi, Reedik, Mahajan, Anubha, Manichaikul, Ani W, McKenzie, Colin A, Meitinger, Thomas, Metspalu, Andres, Milaneschi, Yuri, Milani, Lili, Mohlke, Karen L, Momozawa, Yukihide, Morris, Andrew P, Murray, Alison D, Nalls, Mike A, Nauck, Matthias, Nelson, Christopher P, North, Kari E, O'Connell, Jeffrey R, Palmer, Nicholette D, Papanicolau, George J, Pedersen, Nancy L, Peters, Annette, Peyser, Patricia A, Polasek, Ozren, Poulter, Neil, Raitakari, Olli T, Reiner, Alex P, Renstrom, Frida, Rice, Treva K, Rich, Stephen S, Robinson, Jennifer G, Rose, Lynda M, Rosendaal, Frits R, Rudan, Igor, Schmidt, Carsten O, Schreiner, Pamela J, Scott, William R, Sever, Peter, Shi, Yuan, Sidney, Stephen, Sims, Mario, Smith, Jennifer A, Snieder, Harold, Starr, John M, Strauch, Konstantin, Stringham, Heather M, Tan, Nicholas YQ, Tang, Hua, Taylor, Kent D, Teo, Yik Ying, Tham, Yih Chung, Tiemeier, Henning, Turner, Stephen T, Uitterlinden, Andre G, van Heemst, Diana, Waldenberger, Melanie, Wang, Heming, Wang, Lan, Wang, Lihua, Wei, Wen Bin, Williams, Christine A, Sr, Wilson Gregory, Wojczynski, Mary K, Yao, Jie, Young, Kristin, Yu, Caizheng, Yuan, Jian-Min, Zhou, Jie, Zonderman, Alan B, Becker, Diane M, Boehnke, Michael, Bowden, Donald W, Chambers, John C, Cooper, Richard S, de Faire, Ulf, Deary, Ian J, Elliott, Paul, Esko, Tonu, Farrall, Martin, Franks, Paul W, Freedman, Barry I, Froguel, Philippe, Gasparini, Paolo, Gieger, Christian, Horta, Bernardo L, Juang, Jyh-Ming Jimmy, Kamatani, Yoichiro, Kammerer, Candace M, Kato, Norihiro, Kooner, Jaspal S, Laakso, Markku, Laurie, Cathy C, Lee, I-Te, Lehtimaki, Terho, Magnusson, Patrik KE, Oldehinkel, Albertine J, Penninx, Brenda WJH, Pereira, Alexandre C, Rauramaa, Rainer, Redline, Susan, Samani, Nilesh J, Scott, James, Shu, Xiao-Ou, van der Harst, Pim, Wagenknecht, Lynne E, Wang, Jun-Sing, Wang, Ya Xing, Wareham, Nicholas J, Watkins, Hugh, Weir, David R, Wickremasinghe, Ananda R, Wu, Tangchun, Zeggini, Eleftheria, Zheng, Wei, Bouchard, Claude, Evans, Michele K, Gudnason, Vilmundur, Kardia, Sharon LR, Liu, Yongmei, Psaty, Bruce M, Ridker, Paul M, van Dam, Rob M, Mook-Kanamori, Dennis O, Fornage, Myriam, Province, Michael A, Kelly, Tanika N, Fox, Ervin R, Hayward, Caroline, van Duijn, Cornelia M, Tai, E Shyong, Wong, Tien Yin, Loos, Ruth JF, Franceschini, Nora, Rotter, Jerome I, Zhu, Xiaofeng, Bierut, Laura J, Gauderman, W James, Rice, Kenneth, Munroe, Patricia B, Morrison, Alanna C, Rao, Dabeeru C, Rotimi, Charles N, Cupples, L Adrienne, Consortium, COGENT-Kidney, Consortium, EPIC-InterAct, Grp, Understanding Soc Sci, Cohort, Lifelines, National Institutes of Health [Bethesda] (NIH), Washington University School of Medicine in St. Louis, Washington University in Saint Louis (WUSTL), The University of Texas Health Science Center at Houston (UTHealth), Universität Regensburg (UR), Queen Mary University of London (QMUL), Brigham and Women's Hospital [Boston], Harvard Medical School [Boston] (HMS), School of Public Health [Boston], Boston University [Boston] (BU), Los Angeles Biomedical Research Institute (LA BioMed), Fred Hutchinson Cancer Research Center [Seattle] (FHCRC), Icahn School of Medicine at Mount Sinai [New York] (MSSM), Singapore Eye Research Institute [Singapore] (SERI), Duke-NUS Medical School [Singapore], National University of Singapore (NUS), Erasmus University Medical Center [Rotterdam] (Erasmus MC), University of Edinburgh, University of Mississippi Medical Center (UMMC), University of Georgia [USA], Leiden University Medical Center (LUMC), Centre de Bioinformatique, Biostatistique et Biologie Intégrative (C3BI), Institut Pasteur [Paris]-Centre National de la Recherche Scientifique (CNRS), Harvard T.H. Chan School of Public Health, University of Washington [Seattle], Wake Forest University, Genome Institute of Singapore (GIS), Massachusetts General Hospital [Boston], Pennington Biomedical Research Center, Louisiana State University (LSU), Icelandic Heart Association [Kopavogur, Iceland] (IHA), University of Iceland [Reykjavik], University of Michigan [Ann Arbor], University of Michigan System, University of North Carolina [Chapel Hill] (UNC), University of North Carolina System (UNC), University of Tartu, Metabolic functional (epi)genomics and molecular mechanisms involved in type 2 diabetes and related diseases - UMR 8199 - UMR 1283 (GI3M), Institut Pasteur de Lille, Réseau International des Instituts Pasteur (RIIP)-Réseau International des Instituts Pasteur (RIIP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lille-Centre National de la Recherche Scientifique (CNRS), Karolinska Institutet [Stockholm], Wake Forest School of Medicine [Winston-Salem], Wake Forest Baptist Medical Center, Imperial College London, University of Ioannina, University of Oxford [Oxford], University of Groningen [Groningen], Universidade Federal de Pelotas = Federal University of Pelotas (UFPel), University of Bristol [Bristol], Huazhong University of Science and Technology [Wuhan] (HUST), Universidade de São Paulo Medical School (FMUSP), Case Western Reserve University [Cleveland], University of Southern California (USC), This project was largely supported by a grant from the US National Heart, Lung, and Blood Institute of the National Institutes of Health (R01HL118305) and by the Intramural Research Program of the National Human Genome Research Institute of the National Institutes of Health through the Center for Research on Genomics and Global Health (CRGGH). The CRGGH is supported by the National Human Genome Research Institute, the National Institute of Diabetes and Digestive and Kidney Diseases, the Center for Information Technology, and the Office of the Director at the National Institutes of Health (Z01HG200362)., Bentley, Ar, Sung, Yj, Brown, Mr, Winkler, Tw, Kraja, At, Ntalla, I, Schwander, K, Chasman, Di, Lim, E, Deng, X, Guo, X, Liu, J, Lu, Y, Cheng, Cy, Sim, X, Vojinovic, D, Huffman, Je, Musani, Sk, Li, C, Feitosa, Mf, Richard, Ma, Noordam, R, Baker, J, Chen, G, Aschard, H, Bartz, Tm, Ding, J, Dorajoo, R, Manning, Ak, Rankinen, T, Smith, Av, Tajuddin, Sm, Zhao, W, Graff, M, Alver, M, Boissel, M, Chai, Jf, Chen, X, Divers, J, Evangelou, E, Gao, C, Goel, A, Hagemeijer, Y, Harris, Se, Hartwig, Fp, He, M, Horimoto, Arvr, Hsu, Fc, Hung, Yj, Jackson, Au, Kasturiratne, A, Komulainen, P, Kühnel, B, Leander, K, Lin, Kh, Luan, J, Lyytikäinen, Lp, Matoba, N, Nolte, Im, Pietzner, M, Prins, B, Riaz, M, Robino, A, Said, Ma, Schupf, N, Scott, Ra, Sofer, T, Stancáková, A, Takeuchi, F, Tayo, Bo, van der Most, Pj, Varga, Tv, Wang, Td, Wang, Y, Ware, Eb, Wen, W, Xiang, Yb, Yanek, Lr, Zhang, W, Zhao, Jh, Adeyemo, A, Afaq, S, Amin, N, Amini, M, Arking, De, Arzumanyan, Z, Aung, T, Ballantyne, C, Barr, Rg, Bielak, Lf, Boerwinkle, E, Bottinger, Ep, Broeckel, U, Brown, M, Cade, Be, Campbell, A, Canouil, M, Charumathi, S, Chen, Yi, Christensen, K, COGENT-Kidney, Consortium, Concas, Mp, Connell, Jm, de Las Fuentes, L, de Silva, Hj, de Vries, P, Doumatey, A, Duan, Q, Eaton, Cb, Eppinga, Rn, Faul, Jd, Floyd, J, Forouhi, Ng, Forrester, T, Friedlander, Y, Gandin, I, Gao, H, Ghanbari, M, Gharib, Sa, Gigante, B, Giulianini, F, Grabe, Hj, Gu, Cc, Harris, Tb, Heikkinen, S, Heng, Ck, Hirata, M, Hixson, Je, Ikram, Ma, EPIC-InterAct, Consortium, Jia, Y, Joehanes, R, Johnson, C, Jonas, Jb, Justice, Ae, Katsuya, T, Khor, Cc, Kilpeläinen, To, Koh, Wp, Kolcic, I, Kooperberg, C, Krieger, Je, Kritchevsky, Sb, Kubo, M, Kuusisto, J, Lakka, Ta, Langefeld, Cd, Langenberg, C, Launer, Lj, Lehne, B, Lewis, Ce, Li, Y, Liang, J, Lin, S, Liu, Ct, Liu, K, Loh, M, Lohman, Kk, Louie, T, Luzzi, A, Mägi, R, Mahajan, A, Manichaikul, Aw, Mckenzie, Ca, Meitinger, T, Metspalu, A, Milaneschi, Y, Milani, L, Mohlke, Kl, Momozawa, Y, Morris, Ap, Murray, Ad, Nalls, Ma, Nauck, M, Nelson, Cp, North, Ke, O'Connell, Jr, Palmer, Nd, Papanicolau, Gj, Pedersen, Nl, Peters, A, Peyser, Pa, Polasek, O, Poulter, N, Raitakari, Ot, Reiner, Ap, Renström, F, Rice, Tk, Rich, S, Robinson, Jg, Rose, Lm, Rosendaal, Fr, Rudan, I, Schmidt, Co, Schreiner, Pj, Scott, Wr, Sever, P, Shi, Y, Sidney, S, Sims, M, Smith, Ja, Snieder, H, Starr, Jm, Strauch, K, Stringham, Hm, Tan, Nyq, Tang, H, Taylor, Kd, Teo, Yy, Tham, Yc, Tiemeier, H, Turner, St, Uitterlinden, Ag, Understanding Society Scientific, Group, van Heemst, D, Waldenberger, M, Wang, H, Wang, L, Wei, Wb, Williams, Ca, Wilson, G Sr, Wojczynski, Mk, Yao, J, Young, K, Yu, C, Yuan, Jm, Zhou, J, Zonderman, Ab, Becker, Dm, Boehnke, M, Bowden, Dw, Chambers, Jc, Cooper, R, de Faire, U, Deary, Ij, Elliott, P, Esko, T, Farrall, M, Franks, Pw, Freedman, Bi, Froguel, P, Gasparini, P, Gieger, C, Horta, Bl, Juang, Jj, Kamatani, Y, Kammerer, Cm, Kato, N, Kooner, J, Laakso, M, Laurie, Cc, Lee, It, Lehtimäki, T, Lifelines, Cohort, Magnusson, Pke, Oldehinkel, Aj, Penninx, Bwjh, Pereira, Ac, Rauramaa, R, Redline, S, Samani, Nj, Scott, J, Shu, Xo, van der Harst, P, Wagenknecht, Le, Wang, J, Wang, Yx, Wareham, Nj, Watkins, H, Weir, Dr, Wickremasinghe, Ar, Wu, T, Zeggini, E, Zheng, W, Bouchard, C, Evans, Mk, Gudnason, V, Kardia, Slr, Liu, Y, Psaty, Bm, Ridker, Pm, van Dam, Rm, Mook-Kanamori, Do, Fornage, M, Province, Ma, Kelly, Tn, Fox, Er, Hayward, C, van Duijn, Cm, Tai, E, Wong, Ty, Loos, Rjf, Franceschini, N, Rotter, Ji, Zhu, X, Bierut, Lj, Gauderman, Wj, Rice, K, Munroe, Pb, Morrison, Ac, Rao, Dc, Rotimi, Cn, Cupples, La., Luan, Jian'an [0000-0003-3137-6337], Pietzner, Maik [0000-0003-3437-9963], Zhao, Jing Hua [0000-0003-4930-3582], Forouhi, Nita [0000-0002-5041-248X], Langenberg, Claudia [0000-0002-5017-7344], Wareham, Nicholas [0000-0003-1422-2993], Apollo - University of Cambridge Repository, Epidemiology, Neurology, Radiology & Nuclear Medicine, Internal Medicine, Life Course Epidemiology (LCE), Interdisciplinary Centre Psychopathology and Emotion regulation (ICPE), Cardiovascular Centre (CVC), Home Office, Action on Hearing Loss, Imperial College Healthcare NHS Trust- BRC Funding, Medical Research Council (MRC), Universiteit Leiden, Institut Pasteur [Paris] (IP)-Centre National de la Recherche Scientifique (CNRS), Metabolic functional (epi)genomics and molecular mechanisms involved in type 2 diabetes and related diseases - UMR 8199 - UMR 1283 (EGENODIA (GI3M)), University of Oxford, Psychiatry, Amsterdam Neuroscience - Complex Trait Genetics, APH - Mental Health, and APH - Digital Health

Subjects
Male, Linkage disequilibrium, Blood lipids, Genome-wide association study, VARIANTS, SUSCEPTIBILITY, Environment interaction, Genome, Linkage Disequilibrium, MESH: Genotype, 0302 clinical medicine, MESH: Aged, 80 and over, Genotype, NICOTINE METABOLISM, 11 Medical and Health Sciences, Genetics & Heredity, Aged, 80 and over, Genetics, MESH: Aged, 0303 health sciences, ARCHITECTURE, [STAT.AP]Statistics [stat]/Applications [stat.AP], Genotype imputation, MESH: Middle Aged, CHOLESTEROL, Smoking, MESH: Life Style, Lifelines Cohort, Middle Aged, Lipids, 3. Good health, ENVIRONMENT INTERACTION, GENOTYPE IMPUTATION, RISK LOCI, METAANALYSIS, CIGARETTES, Cholesterol, MESH: Linkage Disequilibrium, MESH: Young Adult, Meta-analysis, Genome-Wide Association Study/methods, Smoking/blood, Medical genetics, Female, EPIC-InterAct Consortium, Life Sciences & Biomedicine, [STAT.ME]Statistics [stat]/Methodology [stat.ME], Adult, Metaanalysi, Understanding Society Scientific Group, medicine.medical_specialty, MESH: Smoking, Adolescent, Genomics, COGENT-Kidney Consortium, Biology, Nicotine metabolism, Risk loci, Metaanalysis, Cigarettes, Article, Young Adult, 03 medical and health sciences, genomics, medicine, Humans, Linkage Disequilibrium/genetics, Life Style, Aged, 030304 developmental biology, MESH: Adolescent, Science & Technology, MESH: Humans, Lipids/blood, MESH: Adult, 06 Biological Sciences, MESH: Lipids, MESH: Male, cardiovascular diseases, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, genome-wide association studies, MESH: Genome-Wide Association Study, [SDV.SPEE]Life Sciences [q-bio]/Santé publique et épidémiologie, [INFO.INFO-BI]Computer Science [cs]/Bioinformatics [q-bio.QM], MESH: Female, 030217 neurology & neurosurgery, Developmental Biology, Genome-Wide Association Study
Abstract

The concentrations of high- and low-density lipoprotein cholesterol and triglycerides are influenced by smoking, but it is unknown whether genetic associations with lipids may be modified by smoking. We conducted a multi-ancestry genome-wide gene-smoking interaction study in 133,805 individuals with follow-up in an additional 253,467 individuals. Combined meta-analyses identified 13 novel loci, some of which were detected only because the association differed by smoking status. Additionally, we demonstrated the importance of including diverse populations, particularly in studies of interactions with lifestyle factors, where genomic and lifestyle differences by ancestry may contribute to novel findings., Editorial summary: A multi-ancestry genome-wide gene-smoking interaction study identifies 13 new loci associated with serum lipids.

Published
2019
Full Text
View/download PDF

16. An Intelligent Wired Capsule for the Treatment of Helicobacter pylori.

Author

Luzzi, Anna and Tortora, Giuseppe

Subjects
HELICOBACTER pylori, CAPSULE endoscopy, PHOTODYNAMIC therapy, GASTROINTESTINAL system, CAMCORDERS, LIGHT intensity
Abstract

Featured Application: An intelligent active actuation system for intelligent treatment of Helicobacter pylori with light. An endoscopic capsule is a miniaturized ingestible video camera used to acquire images of the gastrointestinal tract wirelessly. Being morphologically equivalent to any ingestible pill, they can be simply swallowed. Endoscopic capsules therefore present an inviting alternative to the traditional endoscope for the examination of the gastrointestinal tract as well for therapeutic purposes. Endoscopic capsules are considered a disruptive technology, as they have revolutionized the examination of the gastrointestinal tract in a relatively short time. The implementation of an active locomotion system can improve the performance of a capsule and, in the solution proposed in this paper, allows providing the capsule the needed power for therapeutic purposes. Alternative therapeutic solutions, based on optical solutions and capsule endoscopy can be applied to patients affected by Helicobacter pylori, a bacterium of the stomach that affects about half of the world population, mainly in developing countries. The infection can be asymptomatic or associated with slight symptomatology. In some cases, it can take to major pathologies or death. The literature reports results deriving from recent applications of photodynamic treatments to H. pylori. Specific wavelengths have been found to exhibit photo-killing capabilities toward the bacterium. Some solutions have been proposed based on the use of endoscopic devices and capsules capable of administering photodynamic therapy inside the stomach. The proposed treatments, however, are invasive and insufficient to achieve long-term eradication. In this work, the administration of photodynamic therapy is proposed, aimed at the eradication of H. pylori by means of an active endoscopic capsule with LED emission. The capsule design, in addition to the therapeutic module aimed at administering an appropriate light intensity at specific wavelengths already demonstrated in the literature, integrates an active locomotion system aimed at maximizing the efficiency of the treatment. [ABSTRACT FROM AUTHOR]

Published
2022
Full Text
View/download PDF

17. Multi-ancestry genome-wide gene-smoking interaction study of 387,272 individuals identifies new loci associated with serum lipids

Author

Bentley, Amy R., Sung, Yun J., Brown, Michael R., Winkler, Thomas W., Kraja, Aldi T., Ntalla, Ioanna, Schwander, Karen, Chasman, Daniel, I, Lim, Elise, Deng, Xuan, Guo, Xiuqing, Liu, Jingmin, Lu, Yingchang, Cheng, Ching-Yu, Sim, Xueling, Vojinovic, Dina, Huffman, Jennifer E., Musani, Solomon K., Li, Changwei, Feitosa, Mary F., Richard, Melissa A., Noordam, Raymond, Baker, Jenna, Chen, Guanjie, Aschard, Hugues, Bartz, Traci M., Ding, Jingzhong, Dorajoo, Rajkumar, Manning, Alisa K., Rankinen, Tuomo, Smith, Albert, V, Tajuddin, Salman M., Zhao, Wei, Graff, Mariaelisa, Alver, Maris, Boissel, Mathilde, Chai, Jin Fang, Chen, Xu, Divers, Jasmin, Evangelou, Evangelos, Gao, Chuan, Goel, Anuj, Hagemeijer, Yanick, Harris, Sarah E., Hartwig, Fernando P., He, Meian, Horimoto, Andrea R. V. R., Hsu, Fang-Chi, Hung, Yi-Jen, Jackson, Anne U., Kasturiratne, Anuradhani, Komulainen, Pirjo, Kuehnel, Brigitte, Leander, Karin, Lin, Keng-Hung, Luan, Jian'an, Lyytikainen, Leo-Pekka, Matoba, Nana, Nolte, Ilja M., Pietzner, Maik, Prins, Bram, Riaz, Muhammad, Robino, Antonietta, Said, M. Abdullah, Schupf, Nicole, Scott, Robert A., Sofer, Tamar, Stancakova, Alena, Takeuchi, Fumihiko, Tayo, Bamidele O., van der Most, Peter J., Varga, Tibor V., Wang, Tzung-Dau, Wang, Yajuan, Ware, Erin B., Wen, Wanqing, Xiang, Yong-Bing, Yanek, Lisa R., Zhang, Weihua, Zhao, Jing Hua, Adeyemo, Adebowale, Afaq, Saima, Amin, Najaf, Amini, Marzyeh, Arking, Dan E., Arzumanyan, Zorayr, Aung, Tin, Ballantyne, Christie, Barr, R. Graham, Bielak, Lawrence F., Boerwinkle, Eric, Bottinger, Erwin P., Broeckel, Ulrich, Brown, Morris, Cade, Brian E., Campbell, Archie, Canouil, Mickael, Charumathi, Sabanayagam, Chen, Yii-Der Ida, Christensen, Kaare, Concas, Maria Pina, Connell, John M., de las Fuentes, Lisa, de Silva, H. Janaka, de Vries, Paul S., Doumatey, Ayo, Duan, Qing, Eaton, Charles B., Eppinga, Ruben N., Faul, Jessica D., Floyd, James S., Forouhi, Nita G., Forrester, Terrence, Friedlander, Yechiel, Gandin, Ilaria, Gao, He, Ghanbari, Mohsen, Gharib, Sina A., Gigante, Bruna, Giulianini, Franco, Grabe, Hans J., Gu, C. Charles, Harris, Tamara B., Heikkinen, Sami, Heng, Chew-Kiat, Hirata, Makoto, Hixson, James E., Ikram, M. Arfan, Jia, Yucheng, Joehanes, Roby, Johnson, Craig, Jonas, Jost Bruno, Justice, Anne E., Katsuya, Tomohiro, Khor, Chiea Chuen, Kilpelainen, Tuomas O., Koh, Woon-Puay, Kolcic, Ivana, Kooperberg, Charles, Krieger, Jose E., Kritchevsky, Stephen B., Kubo, Michiaki, Kuusisto, Johanna, Lakka, Timo A., Langefeld, Carl D., Langenberg, Claudia, Launer, Lenore J., Lehne, Benjamin, Lewis, Cora E., Li, Yize, Liang, Jingjing, Lin, Shiow, Liu, Ching-Ti, Liu, Jianjun, Liu, Kiang, Loh, Marie, Lohman, Kurt K., Louie, Tin, Luzzi, Anna, Magi, Reedik, Mahajan, Anubha, Manichaikul, Ani W., McKenzie, Colin A., Meitinger, Thomas, Metspalu, Andres, Milaneschi, Yuri, Milani, Lili, Mohlke, Karen L., Momozawa, Yukihide, Morris, Andrew P., Murray, Alison D., Nalls, Mike A., Nauck, Matthias, Nelson, Christopher P., North, Kari E., O'Connell, Jeffrey R., Palmer, Nicholette D., Papanicolau, George J., Pedersen, Nancy L., Peters, Annette, Peyser, Patricia A., Polasek, Ozren, Poulter, Neil, Raitakari, Olli T., Reiner, Alex P., Renstrom, Frida, Rice, Treva K., Rich, Stephen S., Robinson, Jennifer G., Rose, Lynda M., Rosendaal, Frits R., Rudan, Igor, Schmidt, Carsten O., Schreiner, Pamela J., Scott, William R., Sever, Peter, Shi, Yuan, Sidney, Stephen, Sims, Mario, Smith, Jennifer A., Snieder, Harold, Starr, John M., Strauch, Konstantin, Stringham, Heather M., Tan, Nicholas Y. Q., Tang, Hua, Taylor, Kent D., Teo, Yik Ying, Tham, Yih Chung, Tiemeier, Henning, Turner, Stephen T., Uitterlinden, Andre G., van Heemst, Diana, Waldenberger, Melanie, Wang, Heming, Wang, Lan, Wang, Lihua, Wei, Wen Bin, Williams, Christine A., Wilson, Gregory, Sr., Wojczynski, Mary K., Yao, Jie, Young, Kristin, Yu, Caizheng, Yuan, Jian-Min, Zhou, Jie, Zonderman, Alan B., Becker, Diane M., Boehnke, Michael, Bowden, Donald W., Chambers, John C., Cooper, Richard S., de Faire, Ulf, Deary, Ian J., Elliott, Paul, Esko, Tonu, Farrall, Martin, Franks, Paul W., Freedman, Barry, I, Froguel, Philippe, Gasparini, Paolo, Gieger, Christian, Horta, Bernardo L., Juang, Jyh-Ming Jimmy, Kamatani, Yoichiro, Kammerer, Candace M., Kato, Norihiro, Kooner, Jaspal S., Laakso, Markku, Laurie, Cathy C., Lee, I-Te, Lehtimaki, Terho, Magnusson, Patrik K. E., Oldehinkel, Albertine J., Penninx, Brenda W. J. H., Pereira, Alexandre C., Rauramaa, Rainer, Redline, Susan, Samani, Nilesh J., Scott, James, Shu, Xiao-Ou, van der Harst, Pim, Wagenknecht, Lynne E., Wang, Jun-Sing, Wang, Ya Xing, Wareham, Nicholas J., Watkins, Hugh, Weir, David R., Wickremasinghe, Ananda R., Wu, Tangchun, Zeggini, Eleftheria, Zheng, Wei, Bouchard, Claude, Evans, Michele K., Gudnason, Vilmundur, Kardia, Sharon L. R., Liu, Yongmei, Psaty, Bruce M., Ridker, Paul M., van Dam, Rob M., Mook-Kanamori, Dennis O., Fornage, Myriam, Province, Michael A., Kelly, Tanika N., Fox, Ervin R., Hayward, Caroline, van Duijn, Cornelia M., Tai, E. Shyong, Wong, Tien Yin, Loos, Ruth J. F., Franceschini, Nora, Rotter, Jerome, I, Zhu, Xiaofeng, Bierut, Laura J., Gauderman, W. James, Rice, Kenneth, Munroe, Patricia B., Morrison, Alanna C., Rao, Dabeeru C., Rotimi, Charles N., Cupples, L. Adrienne, Bentley, Amy R., Sung, Yun J., Brown, Michael R., Winkler, Thomas W., Kraja, Aldi T., Ntalla, Ioanna, Schwander, Karen, Chasman, Daniel, I, Lim, Elise, Deng, Xuan, Guo, Xiuqing, Liu, Jingmin, Lu, Yingchang, Cheng, Ching-Yu, Sim, Xueling, Vojinovic, Dina, Huffman, Jennifer E., Musani, Solomon K., Li, Changwei, Feitosa, Mary F., Richard, Melissa A., Noordam, Raymond, Baker, Jenna, Chen, Guanjie, Aschard, Hugues, Bartz, Traci M., Ding, Jingzhong, Dorajoo, Rajkumar, Manning, Alisa K., Rankinen, Tuomo, Smith, Albert, V, Tajuddin, Salman M., Zhao, Wei, Graff, Mariaelisa, Alver, Maris, Boissel, Mathilde, Chai, Jin Fang, Chen, Xu, Divers, Jasmin, Evangelou, Evangelos, Gao, Chuan, Goel, Anuj, Hagemeijer, Yanick, Harris, Sarah E., Hartwig, Fernando P., He, Meian, Horimoto, Andrea R. V. R., Hsu, Fang-Chi, Hung, Yi-Jen, Jackson, Anne U., Kasturiratne, Anuradhani, Komulainen, Pirjo, Kuehnel, Brigitte, Leander, Karin, Lin, Keng-Hung, Luan, Jian'an, Lyytikainen, Leo-Pekka, Matoba, Nana, Nolte, Ilja M., Pietzner, Maik, Prins, Bram, Riaz, Muhammad, Robino, Antonietta, Said, M. Abdullah, Schupf, Nicole, Scott, Robert A., Sofer, Tamar, Stancakova, Alena, Takeuchi, Fumihiko, Tayo, Bamidele O., van der Most, Peter J., Varga, Tibor V., Wang, Tzung-Dau, Wang, Yajuan, Ware, Erin B., Wen, Wanqing, Xiang, Yong-Bing, Yanek, Lisa R., Zhang, Weihua, Zhao, Jing Hua, Adeyemo, Adebowale, Afaq, Saima, Amin, Najaf, Amini, Marzyeh, Arking, Dan E., Arzumanyan, Zorayr, Aung, Tin, Ballantyne, Christie, Barr, R. Graham, Bielak, Lawrence F., Boerwinkle, Eric, Bottinger, Erwin P., Broeckel, Ulrich, Brown, Morris, Cade, Brian E., Campbell, Archie, Canouil, Mickael, Charumathi, Sabanayagam, Chen, Yii-Der Ida, Christensen, Kaare, Concas, Maria Pina, Connell, John M., de las Fuentes, Lisa, de Silva, H. Janaka, de Vries, Paul S., Doumatey, Ayo, Duan, Qing, Eaton, Charles B., Eppinga, Ruben N., Faul, Jessica D., Floyd, James S., Forouhi, Nita G., Forrester, Terrence, Friedlander, Yechiel, Gandin, Ilaria, Gao, He, Ghanbari, Mohsen, Gharib, Sina A., Gigante, Bruna, Giulianini, Franco, Grabe, Hans J., Gu, C. Charles, Harris, Tamara B., Heikkinen, Sami, Heng, Chew-Kiat, Hirata, Makoto, Hixson, James E., Ikram, M. Arfan, Jia, Yucheng, Joehanes, Roby, Johnson, Craig, Jonas, Jost Bruno, Justice, Anne E., Katsuya, Tomohiro, Khor, Chiea Chuen, Kilpelainen, Tuomas O., Koh, Woon-Puay, Kolcic, Ivana, Kooperberg, Charles, Krieger, Jose E., Kritchevsky, Stephen B., Kubo, Michiaki, Kuusisto, Johanna, Lakka, Timo A., Langefeld, Carl D., Langenberg, Claudia, Launer, Lenore J., Lehne, Benjamin, Lewis, Cora E., Li, Yize, Liang, Jingjing, Lin, Shiow, Liu, Ching-Ti, Liu, Jianjun, Liu, Kiang, Loh, Marie, Lohman, Kurt K., Louie, Tin, Luzzi, Anna, Magi, Reedik, Mahajan, Anubha, Manichaikul, Ani W., McKenzie, Colin A., Meitinger, Thomas, Metspalu, Andres, Milaneschi, Yuri, Milani, Lili, Mohlke, Karen L., Momozawa, Yukihide, Morris, Andrew P., Murray, Alison D., Nalls, Mike A., Nauck, Matthias, Nelson, Christopher P., North, Kari E., O'Connell, Jeffrey R., Palmer, Nicholette D., Papanicolau, George J., Pedersen, Nancy L., Peters, Annette, Peyser, Patricia A., Polasek, Ozren, Poulter, Neil, Raitakari, Olli T., Reiner, Alex P., Renstrom, Frida, Rice, Treva K., Rich, Stephen S., Robinson, Jennifer G., Rose, Lynda M., Rosendaal, Frits R., Rudan, Igor, Schmidt, Carsten O., Schreiner, Pamela J., Scott, William R., Sever, Peter, Shi, Yuan, Sidney, Stephen, Sims, Mario, Smith, Jennifer A., Snieder, Harold, Starr, John M., Strauch, Konstantin, Stringham, Heather M., Tan, Nicholas Y. Q., Tang, Hua, Taylor, Kent D., Teo, Yik Ying, Tham, Yih Chung, Tiemeier, Henning, Turner, Stephen T., Uitterlinden, Andre G., van Heemst, Diana, Waldenberger, Melanie, Wang, Heming, Wang, Lan, Wang, Lihua, Wei, Wen Bin, Williams, Christine A., Wilson, Gregory, Sr., Wojczynski, Mary K., Yao, Jie, Young, Kristin, Yu, Caizheng, Yuan, Jian-Min, Zhou, Jie, Zonderman, Alan B., Becker, Diane M., Boehnke, Michael, Bowden, Donald W., Chambers, John C., Cooper, Richard S., de Faire, Ulf, Deary, Ian J., Elliott, Paul, Esko, Tonu, Farrall, Martin, Franks, Paul W., Freedman, Barry, I, Froguel, Philippe, Gasparini, Paolo, Gieger, Christian, Horta, Bernardo L., Juang, Jyh-Ming Jimmy, Kamatani, Yoichiro, Kammerer, Candace M., Kato, Norihiro, Kooner, Jaspal S., Laakso, Markku, Laurie, Cathy C., Lee, I-Te, Lehtimaki, Terho, Magnusson, Patrik K. E., Oldehinkel, Albertine J., Penninx, Brenda W. J. H., Pereira, Alexandre C., Rauramaa, Rainer, Redline, Susan, Samani, Nilesh J., Scott, James, Shu, Xiao-Ou, van der Harst, Pim, Wagenknecht, Lynne E., Wang, Jun-Sing, Wang, Ya Xing, Wareham, Nicholas J., Watkins, Hugh, Weir, David R., Wickremasinghe, Ananda R., Wu, Tangchun, Zeggini, Eleftheria, Zheng, Wei, Bouchard, Claude, Evans, Michele K., Gudnason, Vilmundur, Kardia, Sharon L. R., Liu, Yongmei, Psaty, Bruce M., Ridker, Paul M., van Dam, Rob M., Mook-Kanamori, Dennis O., Fornage, Myriam, Province, Michael A., Kelly, Tanika N., Fox, Ervin R., Hayward, Caroline, van Duijn, Cornelia M., Tai, E. Shyong, Wong, Tien Yin, Loos, Ruth J. F., Franceschini, Nora, Rotter, Jerome, I, Zhu, Xiaofeng, Bierut, Laura J., Gauderman, W. James, Rice, Kenneth, Munroe, Patricia B., Morrison, Alanna C., Rao, Dabeeru C., Rotimi, Charles N., and Cupples, L. Adrienne

Abstract

The concentrations of high- and low-density-lipoprotein cholesterol and triglycerides are influenced by smoking, but it is unknown whether genetic associations with lipids may be modified by smoking. We conducted a multi-ancestry genome-wide gene-smoking interaction study in 133,805 individuals with follow-up in an additional 253,467 individuals. Combined meta-analyses identified 13 new loci associated with lipids, some of which were detected only because association differed by smoking status. Additionally, we demonstrate the importance of including diverse populations, particularly in studies of interactions with lifestyle factors, where genomic and lifestyle differences by ancestry may contribute to novel findings.

Published
2019
Full Text
View/download PDF

18. Il «maraviglioso» e il «maravigliosissimo» dei tempi moderni

Author

Luzzi, Anna Chiara

Subjects
lcsh:French literature - Italian literature - Spanish literature - Portuguese literature, lcsh:PQ1-3999
Abstract

Au début du XXe siècle, le cinéma investit très largement le champ culturel ; se mêlant à la littérature, il produit des hybrides artistiques, dans une tendance qui se poursuivra tout au long du siècle. La dimension multimédia du cinéma trouve avec Cabiria, film muet de 1914 réalisé par Pastrone et écrit par D’Annunzio, son actualisation la plus réussie. Le film se présente comme une synthèse et une réécriture de topoi littéraires hérités en premier lieu du Flaubert de Salammbô, mais aussi d’auteurs comme Salgari dans Cartagine in fiamme, de peintres comme Sargent ou de musiciens comme Reyer, également influencés par le roman français. Cette étude se propose de retracer les étapes de la réalisation de ce film kolossal, en s’attachant aux motifs récurrents de l’œuvre cinématographique et en mettant en relief les analogies et les différences avec l’œuvre fondatrice de Flaubert. In the early 20th century cinema considerably pervaded the cultural field, and mingling with literature it created artistic hybrids, a trend that would continue throughout the century. With Cabiria, a silent movie directed by Pastrone and written by D’Annunzio, the multimedia dimension of film found its most successful expression. The movie is a synthesis and a rewriting of literary topoi inherited primarily from Flaubert’s Salammbô, but also from other writers such as Salgari and his Cartagine in fiamme, and of painters such as Sargent or musicians like Reyer, themselves influenced by the French novel. This article will go back over the stages of this colossal movie’s making, by studying the film’s recurrent motifs and highlighting the analogies and differences with Flaubert’s founding work. Nei primi anni del Novecento la novità del cinematografo investe prepotentemente il costume sociale e culturale dell’epoca e anche la letteratura irrompe nel grande schermo producendo ibridi artistici destinati a segnare una tendenza che durerà per tutto il secolo. La vocazione intermediale della settima arte trova in Cabiria, il film muto del 1914 frutto della potenza creativa del regista Pastrone e del poeta D’Annunzio, la sua più compiuta formulazione. La produzione si configura come sintesi e rielaborazione di topoi letterari trattati in primis da Flaubert, creatore del personaggio Salammbô, e successivamente da autori come il Salgari della Cartagine in Fiamme, pittori come Sargent o musicisti come Reyer che a lui si sono ispirati. In questo studio si è inteso ripercorrere le vicende che hanno accompagnato la realizzazione del kolossal prendendo in considerazione i motivi ricorrenti nell’opera filmica, eventuali analogie e differenze con l’opera originale di Flaubert, con la quale condivide le caratteristiche atmosfere, il gusto per una certa spettacolarità e alcuni aspetti diegetici.

Published
2015

Catalog

Books, media, physical & digital resources
See catalog results