Author: "A, Manunta" / Topic: female - Searchworks@Jio Institute Digital Library Search Results

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1. Robotic female artificial urinary sphincter implantation vs. male artificial urinary sphincter implantation for non-neurogenic stress urinary incontinence

Author: Dubois, Alexandre, Lethuillier, Valentine, Richard, Claire, Haudebert, Camille, Bentellis, Imad, EL-Akri, Mehdi, Freton, Lucas, Manunta, Andrea, Hascoet, Juliette, and Peyronnet, Benoit
Published: 2024
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2. Comparison of early loosening vs delayed section of mid-urethral slings for postoperative voiding dysfunction

Author: Pinsard, Marion, Fauconnier, Arnaud, D’Halluin, François, Broux, Pierre-Louis, Guerin, Sonia, Gasmi, Anis, Harlicot, Jean-Philippe, Lavoue, Vincent, Leveque, Jean, Manunta, Andrea, Nyangoh Timoh, Krystel, and Peyronnet, Benoit
Published: 2023
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3. Cross-disorder genome-wide analyses suggest a complex genetic relationship between Tourette's syndrome and OCD.

Author: Yu, Dongmei, Mathews, Carol A, Scharf, Jeremiah M, Neale, Benjamin M, Davis, Lea K, Gamazon, Eric R, Derks, Eske M, Evans, Patrick, Edlund, Christopher K, Crane, Jacquelyn, Fagerness, Jesen A, Osiecki, Lisa, Gallagher, Patience, Gerber, Gloria, Haddad, Stephen, Illmann, Cornelia, McGrath, Lauren M, Mayerfeld, Catherine, Arepalli, Sampath, Barlassina, Cristina, Barr, Cathy L, Bellodi, Laura, Benarroch, Fortu, Berrió, Gabriel Bedoya, Bienvenu, O Joseph, Black, Donald W, Bloch, Michael H, Brentani, Helena, Bruun, Ruth D, Budman, Cathy L, Camarena, Beatriz, Campbell, Desmond D, Cappi, Carolina, Silgado, Julio C Cardona, Cavallini, Maria C, Chavira, Denise A, Chouinard, Sylvain, Cook, Edwin H, Cookson, MR, Coric, Vladimir, Cullen, Bernadette, Cusi, Daniele, Delorme, Richard, Denys, Damiaan, Dion, Yves, Eapen, Valsama, Egberts, Karin, Falkai, Peter, Fernandez, Thomas, Fournier, Eduardo, Garrido, Helena, Geller, Daniel, Gilbert, Donald L, Girard, Simon L, Grabe, Hans J, Grados, Marco A, Greenberg, Benjamin D, Gross-Tsur, Varda, Grünblatt, Edna, Hardy, John, Heiman, Gary A, Hemmings, Sian MJ, Herrera, Luis D, Hezel, Dianne M, Hoekstra, Pieter J, Jankovic, Joseph, Kennedy, James L, King, Robert A, Konkashbaev, Anuar I, Kremeyer, Barbara, Kurlan, Roger, Lanzagorta, Nuria, Leboyer, Marion, Leckman, James F, Lennertz, Leonhard, Liu, Chunyu, Lochner, Christine, Lowe, Thomas L, Lupoli, Sara, Macciardi, Fabio, Maier, Wolfgang, Manunta, Paolo, Marconi, Maurizio, McCracken, James T, Mesa Restrepo, Sandra C, Moessner, Rainald, Moorjani, Priya, Morgan, Jubel, Muller, Heike, Murphy, Dennis L, Naarden, Allan L, Nurmi, Erika, Ochoa, William Cornejo, Ophoff, Roel A, Pakstis, Andrew J, Pato, Michele T, Pato, Carlos N, Piacentini, John, Pittenger, Christopher, and Pollak, Yehuda
Subjects: Humans, Tourette Syndrome, Severity of Illness Index, Obsessive-Compulsive Disorder, Psychiatric Status Rating Scales, Comorbidity, Polymorphism, Single Nucleotide, Adult, Female, Male, Genome-Wide Association Study, Human Genome, Genetics, Brain Disorders, Serious Mental Illness, Neurodegenerative, Prevention, Anxiety Disorders, Mental Health, Neurosciences, 2.1 Biological and endogenous factors, Aetiology, Mental health, Medical and Health Sciences, Psychology and Cognitive Sciences, Psychiatry
Abstract: ObjectiveObsessive-compulsive disorder (OCD) and Tourette's syndrome are highly heritable neurodevelopmental disorders that are thought to share genetic risk factors. However, the identification of definitive susceptibility genes for these etiologically complex disorders remains elusive. The authors report a combined genome-wide association study (GWAS) of Tourette's syndrome and OCD.MethodThe authors conducted a GWAS in 2,723 cases (1,310 with OCD, 834 with Tourette's syndrome, 579 with OCD plus Tourette's syndrome/chronic tics), 5,667 ancestry-matched controls, and 290 OCD parent-child trios. GWAS summary statistics were examined for enrichment of functional variants associated with gene expression levels in brain regions. Polygenic score analyses were conducted to investigate the genetic architecture within and across the two disorders.ResultsAlthough no individual single-nucleotide polymorphisms (SNPs) achieved genome-wide significance, the GWAS signals were enriched for SNPs strongly associated with variations in brain gene expression levels (expression quantitative loci, or eQTLs), suggesting the presence of true functional variants that contribute to risk of these disorders. Polygenic score analyses identified a significant polygenic component for OCD (p=2×10(-4)), predicting 3.2% of the phenotypic variance in an independent data set. In contrast, Tourette's syndrome had a smaller, nonsignificant polygenic component, predicting only 0.6% of the phenotypic variance (p=0.06). No significant polygenic signal was detected across the two disorders, although the sample is likely underpowered to detect a modest shared signal. Furthermore, the OCD polygenic signal was significantly attenuated when cases with both OCD and co-occurring Tourette's syndrome/chronic tics were included in the analysis (p=0.01).ConclusionsPrevious work has shown that Tourette's syndrome and OCD have some degree of shared genetic variation. However, the data from this study suggest that there are also distinct components to the genetic architectures of these two disorders. Furthermore, OCD with co-occurring Tourette's syndrome/chronic tics may have different underlying genetic susceptibility compared with OCD alone.
Published: 2015

4. Effects of valsartan, benazepril and their combination in overt nephropathy of type 2 diabetes: A prospective, randomized, controlled trial

Author: Olimpia Diadei, Eleonora Riccio, Paolo Manunta, Giovanni Giorgio Battaglia, Antonio Bossi, Fabiola Carrara, Aneliya Parvanova, Nadia Stucchi, Francesco Peraro, Antonio Belviso, Andrea Satta, Piero Ruggenenti, Annalisa Perna, Nadan Gregorič, Maria Carolina Aparicio, Salvatore David, Barbara Ruggiero, Matias Trillini, Davide Martinetti, Ilian Iliev, Stefano Rota, Roberto Trevisan, Antonio Pisani, Filippo Aucella, Monica Cortinovis, Giuseppe Remuzzi, Flavio Gaspari, Andrej Janez, Drazenka Pongrac Barlovic, Ruggenenti, P., Trillini, M., P. Barlovic, D., Cortinovis, M., Pisani, A., Parvanova, A., Iliev, I. P., Ruggiero, B., Rota, S., Aparicio, M. C., Perna, A., Peraro, F., Diadei, O., Gaspari, F., Carrara, F., Stucchi, N., Martinetti, D., Janez, A., Gregoric, N., Riccio, E., Bossi, A. C., Trevisan, R., Manunta, P., Battaglia, G., David, S., Aucella, F., Belviso, A., Satta, A., Remuzzi, G., Ruggenenti, P, Trillini, M, P. Barlovic, D, Cortinovis, M, Pisani, A, Parvanova, A, Iliev, I, Ruggiero, B, Rota, S, Aparicio, M, Perna, A, Peraro, F, Diadei, O, Gaspari, F, Carrara, F, Stucchi, N, Martinetti, D, Janez, A, Gregoric, N, Riccio, E, Bossi, A, Trevisan, R, Manunta, P, Battaglia, G, David, S, Aucella, F, Belviso, A, Satta, A, and Remuzzi, G
Subjects: Adult, Male, medicine.medical_specialty, Combination therapy, Endocrinology, Diabetes and Metabolism, Slovenia, Urology, Benazepril, Blood Pressure, 030209 endocrinology & metabolism, Type 2 diabetes, 030204 cardiovascular system & hematology, Kidney Function Tests, Nephropathy, Diabetic nephropathy, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Endocrinology, Internal Medicine, medicine, Humans, Diabetic Nephropathies, Aged, type 2 diabete, Creatinine, business.industry, diabetic nephropathy, Benzazepines, Middle Aged, diabetic nephropathy, phase III study, type 2 diabetes, Adult, Aged, Benzazepines, Biomarkers, Blood Pressure, Diabetes Mellitus, Type 2, Diabetic Nephropathies, Drug Therapy, Combination, Female, Humans, Italy, Kidney Function Tests, Male, Middle Aged, Slovenia, Treatment Outcome, Valsartan, medicine.disease, phase III study, Treatment Outcome, Diabetes Mellitus, Type 2, Italy, chemistry, Valsartan, ACE inhibitor, Drug Therapy, Combination, Female, type 2 diabetes, business, Biomarkers, medicine.drug
Abstract: Aims: To evaluate whether angiotensin-converting enzyme (ACE) inhibitor and angiotensin II receptor blocker (ARB) combination therapy is more nephroprotective than ACE inhibitor or ARB monotherapy in people with type 2 diabetes and overt nephropathy. Materials and methods: In this prospective, randomized, open, blind-endpoint phase III trial sponsored by the Italian Drug Agency, 103 consenting patients with type 2 diabetes, aged >40 years, with serum creatinine levels 159 to 309 μmol/L, spot morning urinary albumin–creatinine ratio > 1000 mg/g (or > 500 mg/g in those on ACE inhibitor or ARB therapy at inclusion) were stratified by centre and randomized to 4.5-year treatment with valsartan 320 mg/d (n = 36), benazepril 20 mg/d (n = 34) or halved doses of both medications (n = 33). The primary endpoint was end-stage renal disease (ESRD). Modified intention-to-treat analyses were performed. Results: Recruitment took place between June 2007 and February 2013 at 10 centres in Italy and one in Slovenia. A total of 77 participants completed the study and 26 were prematurely withdrawn. During a median (interquartile range) of 41 (18–54) months, 12 participants on benazepril (35.3%) and nine on combination therapy (27.3%) progressed to ESRD, versus five on valsartan (13.9%). Differences between benazepril (hazard ratio [HR] 3.59, 95% confidence interval [CI] 1.25–10.30; P = 0.018) or combination therapy (HR 3.28, 95% CI 1.07–10.0; P = 0.038) and valsartan were significant, even after adjustment for age, gender and baseline serum creatinine, systolic blood pressure and 24-hour proteinuria (HR 5.16, 95% CI 1.50–17.75, P = 0.009 and HR 4.75, 95% CI 1.01–22.39, P = 0.049, respectively). Adverse events were distributed similarly among the groups. Conclusions: In people with type 2 diabetes with nephropathy, valsartan (320 mg/d) safely postponed ESRD more effectively than benazepril (20 mg/d) or than halved doses of both medications.
Published: 2019
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5. Association of colorectal cancer with genetic and epigenetic variation in PEAR1-A population-based cohort study

Author: Yang, Wen-Yi, Izzi, Benedetta, Bress, Adam P., Thijs, Lutgarde, Citterio, Lorena, Wei, Fang-Fei, Salvi, Erika, Delli Carpini, Simona, Manunta, Paolo, Cusi, Daniele, Hoylaerts, Marc F., Luttun, Aernout, Verhamme, Peter, Hardikar, Sheetal, NAWROT, Tim, Staessen, Jan A., Zhang , Zhen-Yu, Mischak, Harald, Citterio, Lorena/0000-0001-6455-2291, Hoylaerts, Marc/0000-0002-6474-3933, Zhenyu/0000-0002-3785-7417, Cusi, Daniele/0000-0002-1006-7597, Yang, Wen-Yi, Izzi, Benedetta, Bress, Adam P, Thijs, Lutgarde, Citterio, Lorena, Wei, Fang-Fei, Salvi, Erika, Delli Carpini, Simona, Manunta, Paolo, Cusi, Daniele, Hoylaerts, Marc F, Luttun, Aernout, Verhamme, Peter, Hardikar, Sheetal, Nawrot, Tim S, Staessen, Jan A, and Zhang, Zhen-Yu
Subjects: Adult, Cohort Studies, Male, Multidisciplinary, Humans, Female, Genetic Predisposition to Disease, Receptors, Cell Surface, DNA Methylation, Colorectal Neoplasms, Epigenesis, Genetic
Abstract: Platelet Endothelial Aggregation Receptor 1 (PEAR1) modulates angiogenesis and platelet contact-induced activation, which play a role in the pathogenesis of colorectal cancer. We therefore tested the association of incident colorectal cancer and genetic and epigenetic variability in PEAR1 among 2532 randomly recruited participants enrolled in the family-based Flemish Study on Environment, Genes and Health Outcomes (51.2% women; mean age 44.8 years). All underwent genotyping of rs12566888 located in intron 1 of the PEAR1 gene; in 926 participants, methylation at 16 CpG sites in the PEAR1 promoter was also assessed. Over 18.1 years (median), 49 colorectal cancers occurred, all in different pedigrees. While accounting for clustering of risk factors within families and adjusting for sex, age, body mass index, the total-to-HDL cholesterol ratio, serum creatinine, plasma glucose, smoking and drinking, use of antiplatelet and nonsteroidal anti-inflammatory drug, the hazard ratio of colorectal cancer contrasting minor-allele (T) carriers vs. major-allele (GG) homozygotes was 2.17 (95% confidence interval, 1.18-3.99; P = 0.013). Bootstrapped analyses, from which we randomly excluded from two to nine cancer cases, provided confirmatory results. In participants with methylation data, we applied partial least square discriminant analysis (PLS-DA) and identified two methylation sites associated with higher colorectal cancer risk and two with lower risk. In-silico analysis suggested that methylation of the PEAR1 promoter at these four sites might affect binding of transcription factors p53, PAX5, and E2F-1, thereby modulating gene expression. In conclusion, our findings suggest that genetic and epigenetic variation in PEAR1 modulates the risk of colorectal cancer in white Flemish. To what extent, environmental factors as exemplified by our methylation data, interact with genetic predisposition and modulate penetrance of colorectal cancer risk is unknown. The European Union (HEALTH-F7-305507 HOMAGE), the European Research Council (Advanced Researcher Grant 2011-294713-EPLORE and Proof-of-Concept Grant 713601-uPROPHET), the European Research Area Net for Cardiovascular Diseases (JTC2017-046-PROACT), and the Research Foundation Flanders, Ministry of the Flemish Community, Brussels, Belgium (G.0881.13, G.0A65.14N, 1508715N, and 12M2715N) supported FLEMENGHO; grants 1508715N and 12M2715N supported the epigenetic analyses. The data for external replication analyses in the current publication were obtained from the dbGaP web site, under phs001078.v1.p1 (https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs001078.v1.p1). Funding for Genetics & Epidemiology of Colorectal Cancer Consortium (GECCO), PHS, and DALS was provided by the National Institutes of Health of the United States of America (NIH, U01 CA137088, R01 CA059045, R01 CA042182, R01 CA137178, P50 CA127003, and R01 CA48998). The study also receives funding from Science and Technology Commission of Shanghai Municipality, Shanghai, China (21TS1400300 and Shanghai Pujiang Program-20PJ1412700). The funding sources had no role in study design, data extraction, data analysis, data interpretation, or writing of the report. The corresponding author had full access to all the data in the study and had responsibility for the decision to submit for publication.The authors gratefully acknowledge the approval of Drs. Ulrike Peters and Martha Slattery for the access to the PHS and DALS data and the clerical assistance of Renilde Wolfs.
Published: 2022

6. Artificial urinary sphincter implantation in women with stress urinary incontinence: preliminary comparison of robot-assisted and open approaches

Author: Peyronnet, Benoit, Vincendeau, Sébastien, Tondut, Lauranne, Bensalah, Karim, Damphousse, Mireille, and Manunta, Andréa
Published: 2016
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7. A multi-country test of brief reappraisal interventions on emotions during the COVID-19 pandemic

Author: IJzerman, Hans, Ropovik, Ivan, Ebersole, Charles, Tidwell, Natasha, Markiewicz, Łukasz, de Lima, Tiago Jessé Souza, Wolf, Daniel, Novak, Sarah, Collins, W. Matthew, Menon, Madhavi, de Souza, Luana Elayne Cunha, Sawicki, Przemysław, Boucher, Leanne, Białek, Michał, Idzikowska, Katarzyna, Razza, Timothy, Kraus, Sue, Weissgerber, Sophia, Baník, Gabriel, Kołodziej, Sabina, Babincak, Peter, Schütz, Astrid, Sternglanz, R. Weylin, Gawryluk, Katarzyna, Sullivan, Gavin Brent, Day, Chris, Sparacio, Alessandro, Tops, Mattie, Quirin, Markus, Lewis, Neil, Przybylski, Andrew, Weinstein, Netta, DeBruine, Lisa, Ritchie, Stuart, Vazire, Simine, Forscher, Patrick, Morey, Richard, Ivory, James, Anvari, Farid, Jones, Benedict, Flake, Jessica, Liuzza, Marco Tullio, Antfolk, Jan, Arinze, Nwadiogo, Ndukaihe, Izuchukwu, Bloxsom, Nicholas, Lewis, Savannah, Foroni, Francesco, Willis, Megan, Cubillas, Carmelo, Vadillo, Miguel, Turiegano, Enrique, Gilead, Michael, Simchon, Almog, Saribay, S. Adil, Owsley, Nicholas, Jang, Chaning, Mburu, Georgina, Calvillo, Dustin, Wlodarczyk, Anna, Qi, Yue, Ariyabuddhiphongs, Kris, Jarukasemthawee, Somboon, Manley, Harry, Suavansri, Panita, Taephant, Nattasuda, Stolier, Ryan, Evans, Thomas, Bonick, Judson, Lindemans, Jan, Ashworth, Logan, Hahn, Amanda, Chevallier, Coralie, Kapucu, Aycan, Karaaslan, Aslan, Leongómez, Juan David, Sánchez, Oscar, Valderrama, Eugenio, Vásquez-Amézquita, Milena, Hajdu, Nandor, Aczel, Balazs, Szecsi, Peter, Andreychik, Michael, Musser, Erica, Batres, Carlota, Hu, Chuan-Peng, Liu, Qing-Lan, Legate, Nicole, Vaughn, Leigh Ann, Barzykowski, Krystian, Golik, Karolina, Schmid, Irina, Stieger, Stefan, Artner, Richard, Mues, Chiel, Vanpaemel, Wolf, Jiang, Zhongqing, Wu, Qi, Marcu, Gabriela, Stephen, Ian, Lu, Jackson, Philipp, Michael, Arnal, Jack, Hehman, Eric, Xie, Sally, Chopik, William, Seehuus, Martin, Azouaghe, Soufian, Belhaj, Abdelkarim, Elouafa, Jamal, Wilson, John, Kruse, Elliott, Papadatou-Pastou, Marietta, De La Rosa-Gómez, Anabel, Barba-Sánchez, Alan, González-Santoyo, Isaac, Hsu, Tsuyueh, Kung, Chun-Chia, Wang, Hsiao-Hsin, Freeman, Jonathan, Oh, Dong Won, Schei, Vidar, Sverdrup, Therese, Levitan, Carmel, Cook, Corey, Chandel, Priyanka, Kujur, Pratibha, Parganiha, Arti, Parveen, Noorshama, Pati, Atanu Kumar, Pradhan, Sraddha, Singh, Margaret, Pande, Babita, Bavolar, Jozef, Kačmár, Pavol, Zakharov, Ilya, Álvarez-Solas, Sara, Baskin, Ernest, Thirkettle, Martin, Schmidt, Kathleen, Christopherson, Cody, Leonis, Trinity, Suchow, Jordan, Olofsson, Jonas, Jernsäther, Teodor, Lee, Ai-Suan, Beaudry, Jennifer, Gogan, Taylor, Oldmeadow, Julian, Balas, Benjamin, Stevens, Laura, Colloff, Melissa, Flowe, Heather, Gülgöz, Sami, Brandt, Mark, Hoyer, Karlijn, Jaeger, Bastian, Ren, Dongning, Sleegers, Willem, Wissink, Joeri, Kaminski, Gwenaël, Floerke, Victoria, Urry, Heather, Chen, Sau-Chin, Pfuhl, Gerit, Vally, Zahir, Basnight-Brown, Dana, Jzerman, Hans, Sarda, Elisa, Neyroud, Lison, Badidi, Touhami, Van der Linden, Nicolas, Tan, Chrystalle, Kovic, Vanja, Sampaio, Waldir, Ferreira, Paulo, Santos, Diana, Burin, Debora, Gardiner, Gwendolyn, Protzko, John, Schild, Christoph, Ścigała, Karolina, Zettler, Ingo, O’Mara Kunz, Erin, Storage, Daniel, Wagemans, Fieke, Saunders, Blair, Sirota, Miroslav, Sloane, Guyan, Lima, Tiago, Uittenhove, Kim, Vergauwe, Evie, Jaworska, Katarzyna, Stern, Julia, Ask, Karl, van Zyl, Casper, Körner, Anita, Boudesseul, Jordane, Ruiz-Dodobara, Fernando, Ritchie, Kay, Michalak, Nicholas, Blake, Khandis, White, David, Gordon-Finlayson, Alasdair, Anne, Michele, Janssen, Steve, Lee, Kean Mun, Nielsen, Tonje, Tamnes, Christian, Zickfeld, Janis, Rosa, Anna Dalla, Vianello, Michelangelo, Kocsor, Ferenc, Kozma, Luca, Putz, Ádám, Tressoldi, Patrizio, Irrazabal, Natalia, Chatard, Armand, Lins, Samuel, Pinto, Isabel, Lutz, Johannes, Adamkovic, Matus, Coetzee, Vinet, Dixson, Barnaby, Ribeiro, Gianni, Peters, Kim, Steffens, Niklas, Tan, Kok Wei, Thorstenson, Christopher, Fernandez, Ana Maria, Hsu, Rafael, Valentova, Jaroslava, Varella, Marco, Corral-Frías, Nadia, Frías-Armenta, Martha, Hatami, Javad, Monajem, Arash, Sharifian, MohammadHasan, Frohlich, Brooke, Lin, Hause, Inzlicht, Michael, Alaei, Ravin, Rule, Nicholas, Lamm, Claus, Pronizius, Ekaterina, Voracek, Martin, Olsen, Jerome, Giolla, Erik Mac, Akgoz, Aysegul, Özdoğru, Asil, Crawford, Matthew, Bennett-Day, Brooke, Koehn, Monica, Okan, Ceylan, Gill, Tripat, Miller, Jeremy, Dunham, Yarrow, Yang, Xin, Alper, Sinan, Borras-Guevara, Martha Lucia, Cai, Sun Jun, Tiantian, Dong, Danvers, Alexander, Feinberg, David, Armstrong, Marie, Gilboa-Schechtman, Eva, McCarthy, Randy, Muñoz-Reyes, Jose Antonio, Polo, Pablo, Shiramazu, Victor, Yan, Wen-Jing, Carvalho, Lilian, Chartier, Christopher, Coles, Nicholas, Klein, Richard, Dujols, Olivier, van de Ven, Niels, Pich, Olivia, Schubert, Thomas, Berkessel, Jana, Pizarro, José, Bhushan, Braj, Mateo, Nino Jose, Barbosa, Sergio, Sharman, Leah, Kökönyei, Gyöngyi, Schrover, Elke, Kardum, Igor, Aruta, John Jamir Benzon, Lazarevic, Ljiljana, Escobar, María Josefina, Stadel, Marie, Arriaga, Patrícia, Dodaj, Arta, Shankland, Rebecca, Majeed, Nadyanna, Li, Yansong, Lekkou, Eleimonitria, Hartanto, Andree, del Carmen Espinoza, Maria, Caballero, Amparo, Kolen, Anouk, Karsten, Julie, Maeura, Nao, Eşkisu, Mustafa, Shani, Yaniv, Chittham, Phakkanun, Ferreira, Diogo, Konova, Irina, Sato, Wataru, Morvinski, Coby, Carrera, Pilar, Villar, Sergio, Ibanez, Agustin, Hareli, Shlomo, Garcia, Adolfo, Kremer, Inbal, Götz, Friedrich, Schwerdtfeger, Andreas, Estrada-Mejia, Catalina, Nakayama, Masataka, Ng, Wee Qin, Sesar, Kristina, Orjiakor, Charles, Dumont, Kitty, Allred, Tara Bulut, Gračanin, Asmir, Rentfrow, Peter, Schönefeld, Victoria, Peltola, Henna-Riikka, Tcherkassof, Anna, Haque, Shamsul, Śmieja, Magdalena, Su-May, Terri Tan, Vatakis, Argiro, Ong, Chew Wei, Choi, Eunsoo, Schorch, Sebastian, Páez, Darío, Malik, Sadia, Bobowik, Magdalena, Jose, Paul, Vuoskoski, Jonna, Basabe, Nekane, Doğan, Uğur, Ebert, Tobias, Uchida, Yukiko, Zheng, Michelle Xue, Mefoh, Philip, Šebeňa, René, Stanke, Franziska, Ballada, Christine Joy, Blaut, Agata, Wu, Yang, Daniels, Judith, Kocsel, Natália, Burak, Elif Gizem Demirag, Balt, Nina, Vanman, Eric, Stewart, Suzanne L.K., Verschuere, Bruno, Sikka, Pilleriin, Martins, Diogo, Nussinson, Ravit, Ito, Kenichi, Mentser, Sari, Çolak, Tuğba Seda, Martinez-Zelaya, Gonzalo, Vingerhoets, Ad, Wang, Ke, Goldenberg, Amit, Dorison, Charles, Uusberg, Andero, Lerner, Jennifer, Gross, James, Agesin, Bamikole Bamikole, Bernardo, Márcia, Campos, Olatz, Eudave, Luis, Grzech, Karolina, Ozery, Daphna Hausman, Jackson, Emily, Garcia, Elkin Oswaldo Luis, Drexler, Shira Meir, Jurković, Anita Penić, Rana, Kafeel, Wilson, John Paul, Antoniadi, Maria, Desai, Kermeka, Gialitaki, Zoi, Kushnir, Elizaveta, Nadif, Khaoula, Bravo, Olalla Niño, Nauman, Rafia, Oosterlinck, Marlies, Pantazi, Myrto, Pilecka, Natalia, Szabelska, Anna, van Steenkiste, I., Filip, Katarzyna, Bozdoc, Andreea Ioana, Marcu, Gabriela Mariana, Agadullina, Elena, Roczniewska, Marta, Reyna, Cecilia, Kassianos, Angelos, Westerlund, Minja, Ahlgren, Lina, Pöntinen, Sara, Adetula, Gabriel Agboola, Dursun, Pinar, Arinze, Azuka Ikechukwu, Arinze, Nwadiogo Chisom, Ogbonnaya, Chisom Esther, Dalgar, Ilker, Akkas, Handan, Macapagal, Paulo Manuel, Metin-Orta, Irem, Santos, Anabela Caetano, Mokady, Aviv, Reggev, Niv, Kurfali, Merve, Vasilev, Martin, Nock, Nora, Parzuchowski, Michal, Espinoza Barría, Mauricio, Vranka, Marek, Kohlová, Markéta Braun, Harutyunyan, Mikayel, Wang, Chunhui, Yao, Elvin, Becker, Maja, Manunta, Efisio, Marko, Dafne, Evans, Kortnee, Lewis, David, Findor, Andrej, Landry, Anais Thibault, Ortiz, Manuel, Grinberg, Maurice, Li, Ranran, Valentova, Jaroslava Varella, Mioni, Giovanna, Cellini, Nicola, Moon, Karis, Azab, Habiba, Levy, Neil, Karababa, Alper, Todsen, Anna Louise, van Schie, Kevin, Vintr, Jáchym, Kaliska, Lada, Križanić, Valerija, Samojlenko, Lara, Pourafshari, Razieh, Geiger, Sandra, Beitner, Julia, Warmelink, Lara, Ross, Robert, Hostler, Thomas, Szala, Anna, Grano, Caterina, Solorzano, Claudio Singh, Anjum, Gulnaz, Jimenez-Leal, William, Bradford, Maria, Pérez, Laura Calderón, Cruz Vásquez, Julio, Galindo-Caballero, Oscar, Vargas-Nieto, Juan Camilo, Kácha, Ondřej, Arvanitis, Alexios, Xiao, Qinyu, Cárcamo, Rodrigo, Zorjan, Saša, Tajchman, Zuzanna, Vilares, Iris, Pavlacic, Jeffrey, Kunst, Jonas, von Bastian, Claudia, Atari, Mohammad, Hricova, Monika, Schrötter, Jana, Rahal, Rima-Maria, Cohen, Noga, FatahModarres, Saiedeh, Zrimsek, Miha, Esteban-Serna, Celia, Calin-Jageman, Robert, Krafnick, Anthony, Štrukelj, Eva, Isager, Peder Mortvedt, Urban, Jan, Silva, Jaime, Martončik, Marcel, Očovaj, Sanja Batić, Šakan, Dušana, Kuzminska, Anna, Djordjevic, Jasna Milosevic, Almeida, Inês, Ferreira, Ana, Ricaurte, Danilo Zambrano, Monteiro, Renan, Etabari, Zahra, Dunleavy, Daniel, Chou, Weilun, Godbersen, Hendrik, Ruiz-Fernández, Susana, Reeck, Crystal, Kirgizova, Komila, Muminov, Abdumalik, Azevedo, Flavio, Alvarez, Daniela Serrato, Butt, Muhammad Mussaffa, Lee, Jeong Min, Chen, Zhang, Verbruggen, Frederick, Ziano, Ignazio, Tümer, Murat, Charyate, Abdelilah, Dubrov, Dmitrii, Tejada Rivera, María del Carmen M. C., Aberson, Christopher, Pálfi, Bence, Maldonado, Mónica Alarcón, Hubena, Barbora, Sacakli, Asli, Ceary, Chris, Richard, Karley, Singer, Gage, Perillo, Jennifer, Ballantyne, Tonia, Cyrus-Lai, Wilson, Fedotov, Maksim, Du, Hongfei, Wielgus, Magdalena, Pit, Ilse, Hruška, Matej, Sousa, Daniela, Szaszi, Barnabas, Adamus, Sylwia, Micheli, Leticia, Schmidt, Nadya-Daniela, Zsido, Andras, Paruzel-Czachura, Mariola, Bialek, Michal, Kowal, Marta, Sorokowska, Agnieszka, Misiak, Michal, Mola, Débora, Ortiz, María Victoria, Correa, Pablo Sebastián, Belaus, Anabel, Muchembled, Fany, Ribeiro, Rafael, Oliveira, Raquel, Szwed, Paulina, Kossowska, Małgorzata, Czarnek, Gabriela, Kielińska, Julita, Antazo, Benedict, Betlehem, Ruben, Nilsonne, Gustav, Simonovic, Nicolle, Taber, Jennifer, Gourdon-Kanhukamwe, Amélie, Domurat, Artur, Ihaya, Keiko, Yamada, Yuki, Urooj, Anum, Čadek, Martin, Bylinina, Lisa, Messerschmidt, Johanna, Kurfalı, Murathan, Adetula, Adeyemi, Baklanova, Ekaterina, Albayrak-Aydemir, Nihan, Kappes, Heather, Gjoneska, Biljana, House, Thea, Jones, Marc, Çoksan, Sami, Khaoudi, Ahmed, Bokkour, Ahmed, El Arabi, Kanza Ait, Djamai, Ikhlas, Iyer, Aishwarya, Parashar, Neha, Adiguzel, Arca, Kocalar, Halil Emre, Bundt, Carsten, Norton, James, Ankushev, Vladislav, Bogatyreva, Natalia, Grigoryev, Dmitry, Ivanov, Aleksandr, Prusova, Irina, Romanova, Marina, Sarieva, Irena, Terskova, Maria, Hristova, Evgeniya, Kadreva, Veselina Hristova, Janak, Allison, Askelund, Adrian Dahl, Pineda, Lina Maria Sanabria, Krupić, Dajana, Johannes, Niklas, Ouherrou, Nihal, Say, Nicolas, Sinkolova, Sladjana, Janjić, Kristina, Stojanovska, Marija, Stojanovska, Dragana, Khosla, Meetu, Thomas, Andrew, Kung, Franki, Bijlstra, Gijsbert, Mosannenzadeh, Farnaz, Balci, Busra Bahar, Reips, Ulf-Dietrich, Ishkhanyan, Byurakn, Czamanski-Cohen, Johanna, Dixson, Barnaby James Wyld, Moreau, David, Sutherland, Clare, Chuan-Peng, Hu, Noone, Chris, Topor, Marta, Kunisato, Yoshihiko, Yu, Karen, Daches, Shimrit, Vdovic, Milica, Anton-Boicuk, Lisa, Forbes, Paul, Kamburidis, Julia, Marinova, Evelina, Nedelcheva-Datsova, Mina, Rachev, Nikolay, Stoyanova, Alina, Koptjevskaja-Tamm, Maria, Bialobrzeska, Olga, Marszalek, Magdalena, Tatachari, Srinivasan, Afhami, Reza, Law, Wilbert, Žuro, Barbara, Van Doren, Natalia, Soto, Jose, Searston, Rachel, Miranda, Jacob, Damnjanović, Kaja, Yeung, Siu Kit, Krupić, Dino, Klevjer, Kristoffer, Lucas, Marc, Torres, Adriana Olaya, Toro, Mónica, Delgado, Lady Grey Javela, Vega, Diego, Solas, Sara Álvarez, Vilar, Roosevelt, Massoni, Sébastien, Frizzo, Thomas, Bran, Alexandre, Vaidis, David, Vieira, Luc, Paris, Bastien, Capizzi, Mariagrazia, Coelho, Gabriel Lins de Holanda, Greenburgh, Anna, Whitt, Cassie, Tullett, Alexa, Du, Xinkai, Volz, Leonhard, Bosma, Minke Jasmijn, Karaarslan, Cemre, Sarıoğuz, Eylül, Korbmacher, Max, Ribeiro, Matheus Fernando Felix, Verharen, Jeroen, Karekla, Maria, Karashiali, Christiana, Sunami, Naoyuki, Jaremka, Lisa, Habib, Sumaiya, Studzinska, Anna, Hanel, Paul, Holford, Dawn Liu, Wolfe, Kelly, Chiu, Faith, Theodoropoulou, Andriana, Ahn, El Rim, Lin, Yijun, Westgate, Erin, Brohmer, Hilmar, Hofer, Gabriela, Vezirian, Kevin, Feldman, Gilad, Travaglino, Giovanni, Ahmed, Afroja, Li, Manyu, Bosch, Jasmijn, Torunsky, Nathan, Bai, Hui, Manavalan, Mathi, Song, Xin, Walczak, Radoslaw, Zdybek, Przemysław, Friedemann, Maja, Alves, Sara, Correia, Rita, Rojas-Berscia, Luis Miguel, Uttley, Jim, Beshears, Julie, Thommesen, Katrine Krabbe, Behzadnia, Behzad, Geniole, Shawn, Silan, Miguel, Maturan, Princess Lovella G., Vilsmeier, Johannes, Tran, Ulrich, Izquierdo, Sara Morales, Mensink, Michael, Sorokowski, Piotr, Groyecka-Bernard, Agata, Radtke, Theda, Adoric, Vera Cubela, Carpentier, Joelle, Özdoğru, Asil Ali, Joy-Gaba, Jennifer, Hedgebeth, Mattie, Ishii, Tatsunori, Wichman, Aaron, Röer, Jan Philipp, Ostermann, Thomas, Davis, William, Suter, Lilian, Papachristopoulos, Konstantinos, Zabel, Chelsea, Mallik, Peter, Buchanan, Erin, Primbs, Maximilian, Moshontz, Hannah, Clinical Psychology, Medical Oncology, Laboratoire Inter-universitaire de Psychologie : Personnalité, Cognition, Changement Social (LIP-PC2S), Université Pierre Mendès France - Grenoble 2 (UPMF)-Université Savoie Mont Blanc (USMB [Université de Savoie] [Université de Chambéry]), Akdemir KurfalI, Merve, Cognition, Langues, Langage, Ergonomie (CLLE-LTC), École pratique des hautes études (EPHE), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Université Toulouse - Jean Jaurès (UT2J)-Centre National de la Recherche Scientifique (CNRS), Organizational Psychology, Medical and Clinical Psychology, Department of Social Psychology, Repositório da Universidade de Lisboa, Faculdade de Psicologia e de Ciências da Educação, and PDF ist zur Bearb. im Hiwi-Ordner, Sperre bis 28.02.2022, rechtl. Bedingungen: postprint, 6 Monate Embargo (Sherpa), 26.01.2022 bo
Subjects: Male, STRESS, Emotions, Psychological intervention, Social Sciences, [SHS.PSY]Humanities and Social Sciences/Psychology, REAPPRAISAL INTERVENTIONS, Behavioral neuroscience, NEGATIVE AND POSITIVE EMOTIONS, Behavioral Neuroscience, 0302 clinical medicine, ddc:150, [STAT.ML]Statistics [stat]/Machine Learning [stat.ML], Pandemic, Psychology, ANXIETY, Covid-19, reappraisal, emotions, R PACKAGE, purl.org/becyt/ford/5.1 [https], ComputingMilieux_MISCELLANEOUS, Repurposing, media_common, purl.org/becyt/ford/5 [https], 05 social sciences, DIVERGENT ASSOCIATIONS, POSITIVE EMOTIONS, 3. Good health, [SCCO.PSYC]Cognitive science/Psychology, MULTI-COUNTRY TEST, adult, COVID-19, female, humans, male, emotional regulation, emotions, Anxiety, Female, COGNITIVE REAPPRAISAL, Psychological resilience, medicine.symptom, [STAT.ME]Statistics [stat]/Methodology [stat.ME], Clinical psychology, Adult, Social Psychology, media_common.quotation_subject, Experimental and Cognitive Psychology, Article, 050105 experimental psychology, Cognitive reappraisal, 03 medical and health sciences, SDG 3 - Good Health and Well-being, Human behaviour, medicine, Humans, 0501 psychology and cognitive sciences, METAANALYSIS, Behaviour Change and Well-being, pandemic, reappraisal, RESILIENCE, NEGATIVE AFFECT, Mental health, Emotional Regulation, REGULATION STRATEGIES, 030217 neurology & neurosurgery
Abstract: © The Author(s), under exclusive licence to Springer Nature Limited 2021, corrected publication 2022, The COVID-19 pandemic has increased negative emotions and decreased positive emotions globally. Left unchecked, these emotional changes might have a wide array of adverse impacts. To reduce negative emotions and increase positive emotions, we tested the effectiveness of reappraisal, an emotion-regulation strategy that modifies how one thinks about a situation. Participants from 87 countries and regions (n = 21,644) were randomly assigned to one of two brief reappraisal interventions (reconstrual or repurposing) or one of two control conditions (active or passive). Results revealed that both reappraisal interventions (vesus both control conditions) consistently reduced negative emotions and increased positive emotions across different measures. Reconstrual and repurposing interventions had similar effects. Importantly, planned exploratory analyses indicated that reappraisal interventions did not reduce intentions to practice preventive health behaviours. The findings demonstrate the viability of creating scalable, low-cost interventions for use around the world., This project was supported by funds from: the Amazon Web Services (AWS) Imagine Grant (to E.M.B.); the Japan Society for the Promotion of Science Grants-in-Aid for Scientific Research (JSPS KAKENHI; 16h03079, 17h00875, 18k12015, and 20h04581 to Y.Y.); the research programme Dipartimenti di Eccellenza from the Ministry of Education University and Research (MIUR to N. Cellini and G.M. and the Department of General Psychology of the University of Padua); statutory funds of the University of Wroclaw (to A. Sorokowska); the Charles University Research Programme PROGRES (Q18 to M. Vranka); the Knut and Alice Wallenberg Foundation (2016:0229 to J.K.O.); the Rubicon Grant (019.183sg.007 to K.v.S.) from the Netherlands Organisation for Scientific Research; the Australian Research Council (dp180102384 to R.M.R.); the US National Institutes of Health (NIMH111640 to M.N.-D.), the Huo Family Foundation to N.J.; the NSF Directorate for Social, Behavioral and Economic Sciences, Division of Social and Economic Sciences (1559511 to J.S.L.); the US National Institutes of Health (RO1-CA-224545 to J.S.L.); Eesti Teadusagentuur–Estonian Research Council (PSG525 to A. Uusberg); the J. William Fulbright Program (to F. Azevedo); the HSE Basic Research Program (to D. Dubrov); Dominican University (a Faculty Development Grant to A. Krafnick); and the French National Research Agency Investissements d’avenir supporting PSF (ANR-15-IDEX-02 to H.I.); the Slovak Research and Development Agency (project no. APVV-20-0319 to M. Adamkovič); the programme FUTURE LEADER of Lorraine Université d’Excellence within the French National Research Agency Investissements d’avenir (ANR-15-IDEX-04-LUE to S.M.). Computation for this research was assisted by: the Harvard Business School compute cluster (HBSGrid); and the Open Science Grid. The Open Science Grid is supported by the National Science Foundation award 1148698 and the US Department of Energy’s Office of Science, as well as by the compute resources and assistance of the UW-Madison Center For High Throughput Computing (CHTC) in the Department of Computer Sciences. The CHTC is supported by UW-Madison, the Advanced Computing Initiative, the Wisconsin Alumni Research Foundation, the Wisconsin Institutes for Discovery, and the National Science Foundation, and is an active member of the Open Science Grid, which is supported by the National Science Foundation and the U.S. Department of Energy’s Office of Science.
Published: 2021
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8. Hypertension in High School Students: Genetic and Environmental Factors: The HYGEF Study

Author: Laura Zagato, Giada Santini, Cristiano Magnaghi, Simona Delli Carpini, Chiara Lanzani, Marco Simonini, Gualtiero Ivanoe Colombo, Valeria Mezzolla, Giovanni Pertosa, Francesca Nistri, Simone Fontana, Salvatore Lenti, Filippo Cellai, Elisabetta Messaggio, Loreto Gesualdo, Roberto Bigazzi, Maria Teresa Rocchetti, Elena Brioni, Maria Pina Concas, Stefano Bianchi, Vito M. Campese, Paolo Manunta, Massimo Papale, Lorena Citterio, Bigazzi, R., Zagato, L., Lanzani, C., Fontana, S., Messaggio, E., Delli Carpini, S., Citterio, L., Simonini, M., Brioni, E., Magnaghi, C., Colombo, G. I., Santini, G., Nistri, F., Cellai, F., Lenti, S., Bianchi, S., Pertosa, G. B., Rocchetti, M. T., Papale, M., Mezzolla, V., Gesualdo, L., Pina Concas, M., Campese, V., Manunta, P., Bigazzi, Roberto, Zagato, Laura, Lanzani, Chiara, Fontana, Simone, Messaggio, Elisabetta, Delli Carpini, Simona, Citterio, Lorena, Simonini, Marco, Brioni, Elena, Magnaghi, Cristiano, Ivanoe Colombo, Gualtiero, Santini, Giada, Nistri, Francesca, Cellai, Filippo, Lenti, Salvatore, Bianchi, Stefano, Battista Pertosa, Giovanni, Teresa Rocchetti, Maria, Papale, Massimo, Mezzolla, Valeria, Gesualdo, Loreto, Concas, MARIA PINA, Campese, Vito, and Manunta, Paolo
Subjects: 0301 basic medicine, Male, Candidate gene, medicine.medical_specialty, hypertension, Adolescent, Genotype, Urinary system, Single-nucleotide polymorphism, Blood Pressure, adolescents, blood pressure, genetics, human, sodiuria, 030204 cardiovascular system & hematology, Polymorphism, Single Nucleotide, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, Internal Medicine, medicine, Humans, Genetic Predisposition to Disease, Endothelial dysfunction, Klotho, Alleles, business.industry, medicine.disease, 030104 developmental biology, Blood pressure, ADD1, Endocrinology, Pathophysiology of hypertension, Hypertension, Female, Gene-Environment Interaction, genetic, business
Abstract: Hypertension and obesity in the young population are major risk factors for renal and cardiovascular events, which could arise in adulthood. A candidate-gene approach was applied in a cohort observational study, in which we collected data from 2638 high school adolescent students. Participants underwent anthropometric and blood pressure (BP) measurements, as well as saliva and urine sample collection for genomic DNA extraction and renal function evaluation, respectively. We tested whether candidate genes previously implicated in salt-sensitive hypertension in adults impact BP also among adolescents. Since inflammatory mechanisms may be involved in pathophysiology of hypertension and in endothelial dysfunction and atherosclerosis through reactive oxygen species, the baseline urinary excretion of inflammatory and oxidative stress markers in a subgroup of adolescents stratified according to ADD1 (alpha adducin) rs4961 genotypes was assessed. Regression analysis of BP values with genetic polymorphisms, highlighted an association with a missense variant of LSS (lanosterol synthase, rs2254524), a gene coding for an enzyme involved in endogenous ouabain synthesis. Higher diastolic and systolic BP were associated with LSS A allele ( P =0.011 and P =0.023, respectively). BP resulted associated with 5 more SNPs. The KL (klotho) rs9536314 missense variant was associated with 24 hour urinary Na + excretion ( P =0.0083). Urinary protein tests showed a greater excretion of IL1β (interleukin 1β) and interleukin 10 ( P ADD1 rs4961 T allele. In conclusion, 3 missense gene variants already implicated in adult hypertension impact BP or Na + excretion among adolescents, and, together with activated pro-inflammatory pathways, might predispose to early cardiovascular damage.
Published: 2020

9. Repeatability of ultrasound examination of the optic nerve sheath diameter in the adult cat: comparison between healthy cats and cats suffering from presumed intracranial hypertension

Author: Maria Luisa Pinna Parpaglia, I. Ballocco, Giovanni Pietro Burrai, Antonella Puggioni, Francesca Cubeddu, Giovanni Carta, Maria Lucia Manunta, and Maria Antonietta Evangelisti
Subjects: Male, medicine.medical_specialty, Optic nerve sheath, 040301 veterinary sciences, Cat Diseases, Ultrasonographic examination, 0403 veterinary science, 03 medical and health sciences, 0302 clinical medicine, Ophthalmology, medicine, Animals, Prospective Studies, Small Animals, CATS, business.industry, Ultrasound, Optic Nerve, 04 agricultural and veterinary sciences, Repeatability, Cross-Sectional Studies, Cats, Female, Intracranial Hypertension, business, 030217 neurology & neurosurgery
Abstract: Objectives The objectives of this study were to test: (1) the repeatability of ultrasonographic examination of the optic nerve sheath diameter (ONSD) in the cat; (2) the association between the ONSD and age, sex and body weight in healthy cats; and (3) the difference in the ONSD between healthy cats and those suffering from presumed intracranial hypertension (ICH). Methods This study had a prospective, blinded, observational cross-sectional study design. Two groups of animals were considered: healthy cats (group A) and cats with a diagnosis of presumed ICH (group B). The ONSD was evaluated, measured and compared between the two groups via an ultrasonographic transpalpebral approach. Repeatability of the procedure was evaluated through the intraclass correlation coefficient (ICC). Data were statistically compared using the Student’s t-test and linear regression analysis. Results A strong inter- and intraobserver ICC indicating good repeatability was observed. The interobserver ICC was 0.965 ( P Conclusions and relevance The transpalpebral ultrasonographic technique is a non-invasive, feasible and reproducible method to measure ONSD both in healthy cats and in cats suffering from suspected ICH.
Published: 2020
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10. [Autologous fascia pubovaginal slings in women with stress urinary incontinence at high risk of mesh/device-related complications]

Author: C, Haudebert, C, Richard, H, Common, J, Hascoet, I, Bentellis, L, Freton, C, Voiry, E, Samson, A, Manunta, B, Brucker, and B, Peyronnet
Subjects: Suburethral Slings, Urinary Incontinence, Stress, Humans, Female, Fascia, Surgical Mesh, Retrospective Studies
Abstract: Very popular in many parts of the world, autologous fascial pubovaginal sling (AFPVS) remains marginally used in France. However, it may be of particular interest in patients carrying a high risk of mesh-related or device-related related complications. The aim of the present series was to report the outcomes of AFPVS in this high-risk population.The charts of all female patients who underwent a fascial sling for SUI at a single academic center between April 2019 and May 2021 were reviewed retrospectively. Only patients deemed at high-risk of device/mesh related complications were included in the present analysis: female with a neurological condition who were doing clean intermittent catheterization (CIC), female with SUI after radical cystectomy and ileal neobladder, female with urethral/bladder extrusion of any synthetic material placed for SUI. Success was defined as complete resolution of SUI at 3 months.Sixteen patients were included in this study: 13 rectus fascia slings and 3 fascia lata slings. The success rate was 56.3% (9/16 patients). Four patients were improved but not completely dry (25%). Two patients had major postoperative complications (i.e. Clavien grade 3 or higher, 11.2%). Two patients had a persisting significant post-void residual (PVR) postoperatively, managed by self-catheterization (transition to self-catheterization at 3 months: 2/8, 25%).The use of autologous fascia pubovaginal sling is an interesting option in female SUI patients with high risk of device/mesh related complications with satisfactory functional outcomes.4.
Published: 2022

11. Clinical risk scores for the early prediction of severe outocomes in patients hospitalized for COVID-19: comment

Author: Rossio R., Tettamanti M., Nobili A., Harari S., Mannucci P. M., Bandera A., Peyvandi F., Bosari S., Scudeller L., Fusetti G., Rusconi L., Dell'Orto S., Prati D., Valenti L., Giovannelli S., Manunta M., Lamorte G., Ferrari F., Gori A., Muscatello A., Mangioni D., Alagna L., Bozzi G., Lombardi A., Ungaro R., Ancona G., Zuglian G., Bolis M., Iannotti N., Ludovisi S., Comelli A., Renisi G., Biscarini S., Castelli V., Palomba E., Fava M., Fortina V., Peri C. A., Saltini P., Viero G., Itri T., Ferroni V., Pastore V., Massafra R., Liparoti A., Muheberimana T., Giommi A., Bianco R., De Azevedo R. M., Chitani G. E., Gualtierotti R., Ferrari B., Boasi N., Pagliaro E., Massimo C., De Caro M., Giachi A., Montano N., Vigone B., Bellocchi C., Carandina A., Fiorelli E., Melli V., Tobaldini E., Blasi F., Aliberti S., Spotti M., Terranova L., Misuraca S., D'Adda A., Fiore S. D., Di Pasquale M., Mantero M., Contarini M., Ori M., Morlacchi L., Rossetti V., Gramegna A., Pappalettera M., Cavallini M., Buscemi A., Vicenzi M., Rota I., Costantino G., Solbiati M., Furlan L., Mancarella M., Colombo G., Fanin A., Passarella M., Monzani V., Canetta C., Rovellini A., Barbetta L., Billi F., Folli C., Accordino S., Maira D., Hu C. M., Motta I., Scaramellini N., Fracanzani A. L., Lombardi R., Cespiati A., Cesari M., Lucchi T., Proietti M., Calcaterra L., Mandelli C., Coppola C., Cerizza A., Pesenti A. M., Grasselli G., Galazzi A., Monti I., Galbussera A. A., Crisafulli E., Girelli D., Maroccia A., Gabbiani D., Busti F., Vianello A., Biondan M., Sartori F., Faverio P., Pesci A., Zucchetti S., Bonfanti P., Rossi M., Beretta I., Spolti A., Elia D., Cassandro R., Caminati A., Cipollone F., Guagnano M. T., D'Ardes D., Rossi I., Vezzani F., Spanevello A., Cherubino F., Visca D., Contoli M., Papi A., Morandi L., Battistini N., Moreo G. L., Iannuzzi P., Fumagalli D., Leone S., Rossio, R, Tettamanti, M, Nobili, A, Harari, S, Mannucci, P, Bandera, A, Peyvandi, F, Bosari, S, Scudeller, L, Fusetti, G, Rusconi, L, Dell'Orto, S, Prati, D, Valenti, L, Giovannelli, S, Manunta, M, Lamorte, G, Ferrari, F, Gori, A, Muscatello, A, Mangioni, D, Alagna, L, Bozzi, G, Lombardi, A, Ungaro, R, Ancona, G, Zuglian, G, Bolis, M, Iannotti, N, Ludovisi, S, Comelli, A, Renisi, G, Biscarini, S, Castelli, V, Palomba, E, Fava, M, Fortina, V, Peri, C, Saltini, P, Viero, G, Itri, T, Ferroni, V, Pastore, V, Massafra, R, Liparoti, A, Muheberimana, T, Giommi, A, Bianco, R, De Azevedo, R, Chitani, G, Gualtierotti, R, Ferrari, B, Boasi, N, Pagliaro, E, Massimo, C, De Caro, M, Giachi, A, Montano, N, Vigone, B, Bellocchi, C, Carandina, A, Fiorelli, E, Melli, V, Tobaldini, E, Blasi, F, Aliberti, S, Spotti, M, Terranova, L, Misuraca, S, D'Adda, A, Fiore, S, Di Pasquale, M, Mantero, M, Contarini, M, Ori, M, Morlacchi, L, Rossetti, V, Gramegna, A, Pappalettera, M, Cavallini, M, Buscemi, A, Vicenzi, M, Rota, I, Costantino, G, Solbiati, M, Furlan, L, Mancarella, M, Colombo, G, Fanin, A, Passarella, M, Monzani, V, Canetta, C, Rovellini, A, Barbetta, L, Billi, F, Folli, C, Accordino, S, Maira, D, Hu, C, Motta, I, Scaramellini, N, Fracanzani, A, Lombardi, R, Cespiati, A, Cesari, M, Lucchi, T, Proietti, M, Calcaterra, L, Mandelli, C, Coppola, C, Cerizza, A, Pesenti, A, Grasselli, G, Galazzi, A, Monti, I, Galbussera, A, Crisafulli, E, Girelli, D, Maroccia, A, Gabbiani, D, Busti, F, Vianello, A, Biondan, M, Sartori, F, Faverio, P, Pesci, A, Zucchetti, S, Bonfanti, P, Rossi, M, Beretta, I, Spolti, A, Elia, D, Cassandro, R, Caminati, A, Cipollone, F, Guagnano, M, D'Ardes, D, Rossi, I, Vezzani, F, Spanevello, A, Cherubino, F, Visca, D, Contoli, M, Papi, A, Morandi, L, Battistini, N, Moreo, G, Iannuzzi, P, Fumagalli, D, and Leone, S
Subjects: Male, Outcome Assessment, Disease, 030204 cardiovascular system & hematology, Respiratory failure, 0302 clinical medicine, Risk Factors, Epidemiology, Early prediction, Outcome Assessment, Health Care, 030212 general & internal medicine, Framingham Risk Score, Respiration, Area under the curve, Middle Aged, Hospitalization, Survival Rate, Italy, Artificial, Emergency Medicine, Female, Clinical risk factor, 2019-20 coronavirus outbreak, medicine.medical_specialty, Coronavirus disease 2019 (COVID-19), Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), Ce - Letter to the Editor, MEDLINE, Risk Assessment, 03 medical and health sciences, Predictive Value of Tests, Internal medicine, Internal Medicine, medicine, Intubation, Intratracheal, Humans, In patient, Derivation, COVID-19, Risk prediction model, SARS-CoV 2, Selection (genetic algorithm), Aged, Retrospective Studies, SARS-CoV-2, business.industry, Retrospective cohort study, Respiration, Artificial, Im - Original, Health Care, Intratracheal, ROC Curve, Intubation, business
Abstract: Coronavirus disease of 2019 (COVID-19) is associated with severe acute respiratory failure. Early identification of high-risk COVID-19 patients is crucial. We aimed to derive and validate a simple score for the prediction of severe outcomes. A retrospective cohort study of patients hospitalized for COVID-19 was carried out by the Italian Society of Internal Medicine. Epidemiological, clinical, laboratory, and treatment variables were collected at hospital admission at five hospitals. Three algorithm selection models were used to construct a predictive risk score: backward Selection, Least Absolute Shrinkage and Selection Operator (LASSO), and Random Forest. Severe outcome was defined as the composite of need for non-invasive ventilation, need for orotracheal intubation, or death. A total of 610 patients were included in the analysis, 313 had a severe outcome. The subset for the derivation analysis included 335 patients, the subset for the validation analysis 275 patients. The LASSO selection identified 6 variables (age, history of coronary heart disease, CRP, AST, D-dimer, and neutrophil/lymphocyte ratio) and resulted in the best performing score with an area under the curve of 0.79 in the derivation cohort and 0.80 in the validation cohort. Using a cut-off of 7 out of 13 points, sensitivity was 0.93, specificity 0.34, positive predictive value 0.59, and negative predictive value 0.82. The proposed score can identify patients at low risk for severe outcome who can be safely managed in a low-intensity setting after hospital admission for COVID-19.
Published: 2021

12. Daprodustat for the treatment of anemia in patients not undergoing dialysis

Author: Singh A. K., Carroll K., McMurray J. J. V., Solomon S., Jha V., Johansen K. L., Lopes R. D., Macdougall I. C., Obrador G. T., Waikar S. S., Wanner C., Wheeler D. C., Wiecek A., Blackorby A., Cizman B., Cobitz A. R., Davies R., DiMino T. L., Kler L., Meadowcroft A. M., Taft L., Perkovic V., Manunta P., Singh, A. K., Carroll, K., Mcmurray, J. J. V., Solomon, S., Jha, V., Johansen, K. L., Lopes, R. D., Macdougall, I. C., Obrador, G. T., Waikar, S. S., Wanner, C., Wheeler, D. C., Wiecek, A., Blackorby, A., Cizman, B., Cobitz, A. R., Davies, R., Dimino, T. L., Kler, L., Meadowcroft, A. M., Taft, L., Perkovic, V., and Manunta, P.
Subjects: Male, Glycine, Myocardial Infarction, Anemia, General Medicine, Middle Aged, Hypoxia-Inducible Factor-Proline Dioxygenases, Intention to Treat Analysis, Stroke, Hemoglobins, Cardiovascular Diseases, Barbiturates, Hematinics, Humans, Darbepoetin alfa, Female, Renal Insufficiency, Chronic, Aged
Abstract: Background: \ud Daprodustat is an oral hypoxia-inducible factor prolyl hydroxylase inhibitor. In patients with chronic kidney disease (CKD) who are not undergoing dialysis, the efficacy and safety of daprodustat, as compared with the conventional erythropoiesis-stimulating agent darbepoetin alfa, are unknown.\ud \ud Methods:\ud In this randomized, open-label, phase 3 trial with blinded adjudication of cardiovascular outcomes, we compared daprodustat with darbepoetin alfa for the treatment of anemia in patients with CKD who were not undergoing dialysis. The primary outcomes were the mean change in the hemoglobin level from baseline to weeks 28 through 52 and the first occurrence of a major adverse cardiovascular event (MACE; a composite of death from any cause, nonfatal myocardial infarction, or nonfatal stroke).\ud \ud Results: \ud Overall, 3872 patients were randomly assigned to receive daprodustat or darbepoetin alfa. The mean (±SD) baseline hemoglobin levels were similar in the two groups. The mean (±SE) change in the hemoglobin level from baseline to weeks 28 through 52 was 0.74±0.02 g per deciliter in the daprodustat group and 0.66±0.02 g per deciliter in the darbepoetin alfa group (difference, 0.08 g per deciliter; 95% confidence interval [CI], 0.03 to 0.13), which met the prespecified noninferiority margin of −0.75 g per deciliter. During a median follow-up of 1.9 years, a first MACE occurred in 378 of 1937 patients (19.5%) in the daprodustat group and in 371 of 1935 patients (19.2%) in the darbepoetin alfa group (hazard ratio, 1.03; 95% CI, 0.89 to 1.19), which met the prespecified noninferiority margin of 1.25. The percentages of patients with adverse events were similar in the two groups.\ud \ud Conclusions: \ud Among patients with CKD and anemia who were not undergoing dialysis, daprodustat was noninferior to darbepoetin alfa with respect to the change in the hemoglobin level from baseline and with respect to cardiovascular outcomes. (Funded by GlaxoSmithKline; ASCEND-ND ClinicalTrials.gov number, NCT02876835.
Published: 2021

13. Antihypertensive treatment guided by genetics: PEARL-HT, the randomized proof-of-concept trial comparing rostafuroxin with losartan

Author: Mara Ferrandi, Daniele Cusi, Tzung-Dau Wang, Patrizia Ferrari, Roberto Bigazzi, Jan A. Staessen, Lit Fui Lau, Kang Ling Wang, Chern En Chiang, Giuseppe A. Scioli, Giuseppe Bianchi, Nicola Glorioso, Li Xiaoyi, Chiara Lanzani, Silvio Cavuto, Paolo Manunta, Lorena Citterio, Citterio, L., Bianchi, G., Scioli, G. A., Glorioso, N., Bigazzi, R., Cusi, D., Staessen, J. A., Cavuto, S., Ferrandi, M., Lanzani, C., Li, X., Lau, L. -F., Chiang, C. -E., Wang, T. -D., Wang, K. -L., Ferrari, P., and Manunta, P.
Subjects: 0301 basic medicine, Male, Blood Pressure, 030204 cardiovascular system & hematology, 0302 clinical medicine, Clinical endpoint, Pharmacology & Pharmacy, Ouabain, Genetics & Heredity, Genetics, Disease genetics, Middle Aged, Asians, Losartan, ADD1, Cardiovascular diseases, Treatment Outcome, Italy, ADD3, Hypertension, Molecular Medicine, Female, Life Sciences & Biomedicine, medicine.drug, Adult, Taiwan, Predictive markers, White People, Article, 03 medical and health sciences, Asian People, Double-Blind Method, medicine, Humans, Androstanols, Genetic Testing, OSBP, Antihypertensive Agents, Genetic association study, Pharmacology, Science & Technology, Genetic heterogeneity, business.industry, Whites, Gene Expression Profiling, 030104 developmental biology, Blood pressure, Pharmacogenetics, Pharmacogenomics, business
Abstract: We compared a standard antihypertensive losartan treatment with a pharmacogenomics-guided rostafuroxin treatment in never-treated Caucasian and Chinese patients with primary hypertension. Rostafuroxin is a digitoxigenin derivative that selectively disrupts the binding to the cSrc-SH2 domain of mutant α-adducin and of the ouabain-activated Na-K pump at 10–11 M. Of 902 patients screened, 172 were enrolled in Italy and 107 in Taiwan. After stratification for country and genetic background, patients were randomized to rostafuroxin or losartan, being the difference in the fall in office systolic blood pressure (OSBP) after 2-month treatment the primary endpoint. Three pharmacogenomic profiles (P) were examined, considering: P1, adding to the gene variants included in the subsequent P2, the variants detected by post-hoc analysis of a previous trial; P2, variants of genes encoding enzymes for endogenous ouabain (EO) synthesis (LSS and HSD3B1), EO transport (MDR1/ABCB1), adducin (ADD1 and ADD3); P3, variants of the LSS gene only. In Caucasians, the group differences (rostafuroxin 50 μg minus losartan 50 mg in OSBP mmHg) were significant both in P2 adjusted for genetic heterogeneity (P2a) and P3 LSS rs2254524 AA [9.8 (0.6–19.0), P = 0.038 and 13.4 (25.4–2.5), P = 0.031, respectively]. In human H295R cells transfected with LSS A and LSS C variants, the EO production was greater in the former (P = 0.038); this difference was abolished by rostafuroxin at 10–11 M. Chinese patients had a similar drop in OSBP to Caucasians with losartan but no change in OSBP with rostafuroxin. These results show that genetics may guide drug treatment for primary hypertension in Caucasians.
Published: 2021

14. Role of blood pressure dysregulation on kidney and mortality outcomes in COVID-19. Kidney, blood pressure and mortality in SARS-CoV-2 infection

Author: Chiara, Lanzani, Marco, Simonini, Teresa, Arcidiacono, Elisabetta, Messaggio, Romina, Bucci, Paolo, Betti, Monica, Avino, Giulia, Magni, Chiara, Maggioni, Caterina, Conte, Patrizia Rovere, Querini, Fabio, Ciceri, Antonella, Castagna, Giuseppe, Vezzoli, Paolo, Manunta, Federica, Morselli, Lanzani, Chiara, Simonini, Marco, Arcidiacono, Teresa, Messaggio, Elisabetta, Bucci, Romina, Betti, Paolo, Avino, Monica, Magni, Giulia, Maggioni, Chiara, Conte, Caterina, Querini, Patrizia Rovere, Ciceri, Fabio, Castagna, Antonella, Vezzoli, Giuseppe, and Manunta, Paolo
Subjects: Nephrology, Male, medicine.medical_specialty, 030232 urology & nephrology, Blood Pressure, 030204 cardiovascular system & hematology, 03 medical and health sciences, 0302 clinical medicine, AKI, Risk Factors, Internal medicine, Severity of illness, medicine, Humans, Hospital Mortality, Prospective Studies, Mortality, Prospective cohort study, Aged, Retrospective Studies, Respiratory distress, business.industry, SARS-CoV-2 infection, Acute kidney injury, COVID-19, Retrospective cohort study, Odds ratio, Acute Kidney Injury, medicine.disease, Survival Rate, Intensive Care Units, Blood pressure, Italy, Hypertension, Original Article, Female, business, Follow-Up Studies
Abstract: Background In February 2020 the corona virus disease 2019 (COVID-19) infection started spreading throughout Italy, hitting the Lombardy region very hard. Despite the high diffusion, only a subset of patients developed severe COVID-19: around 25% of them developed acute kidney injury (AKI) and one-third of them died. Elderly patients and patients with high comorbidities were identified as being at higher risk of severe COVID-19. Methods Our prospective observational cohort study includes 392 consecutive patients hospitalized for COVID-19 in Milan (median age 67 years, 75% male). We evaluated the relationship between blood pressure at presentation, presence of AKI at Emergency Department admission and during hospitalization, and total in-hospital mortality (24%). Results Although 58% of our study patients reported a history of hypertension (HYP) (86% on treatment), 30% presented with low blood pressure levels. Only 5.5% were diagnosed with AKI on admission; 75% of hypertensive patients discontinued therapy during hospitalization (only 20% were on treatment at discharge). Gender and hypertension were strongly associated with AKI at admission (odds ratio 11). Blood pressure was inversely correlated with increased risk of AKI upon admission, regardless of the severity of respiratory distress. Age over 65, history of hypertension, and severity of respiratory distress were the main predictors of AKI, which developed in 34.7% of cases during hospitalization. AKI was associated with increased in-hospital mortality. Hypertension and low blood pressure at presentation were the main predictors of in-hospital mortality, together with age over 65, baseline pulmonary involvement, and severity of illness. Conclusions In patients hospitalized for COVID-19, hypertension and low blood pressure at presentation are important risk factors for AKI and mortality. Early reduction of antihypertensive therapy may improve outcomes in patients with SARS-CoV-2 infection.
Published: 2020

15. The TRPC6 intronic polymorphism, associated with the risk of neurological disorders in systemic lupus erythematous, influences immune cell function

Author: Giuseppe A. Ramirez, Lavinia A. Coletto, Lorena Citterio, Laura Zagato, Clara Sciorati, Simona Delli Carpini, Paolo Manunta, Chiara Lanzani, Patrizia Rovere-Querini, Angelo A. Manfredi, Enrica Bozzolo, Ramirez, Giuseppe A, Coletto, Lavinia A, Bozzolo, Enrica P, Citterio, Lorena, Delli Carpini, Simona, Zagato, Laura, Rovere-Querini, Patrizia, Lanzani, Chiara, Manunta, Paolo, Manfredi, Angelo A, and Sciorati, Clara
Subjects: Adult, Male, 0301 basic medicine, Adolescent, Systemic lupus erythematou, Immunology, TRPC6, Neuropsychiatric, Single-nucleotide polymorphism, Disease, Polymorphism, Single Nucleotide, Peripheral blood mononuclear cell, Young Adult, 03 medical and health sciences, Genetic, Genotype, TRPC6 Cation Channel, Humans, Lupus Erythematosus, Systemic, Immunology and Allergy, Medicine, SNP, Genetic Predisposition to Disease, skin and connective tissue diseases, Cytokine, Immunity, Cellular, business.industry, Apoptosi, 030104 developmental biology, Neurology, Apoptosis, Leukocytes, Mononuclear, Calcium, Female, Cytokine secretion, Neurology (clinical), Nervous System Diseases, business
Abstract: Patients with systemic lupus erythematosus (SLE) carrying a TT genotype for the rs7925662 single nucleotide polymorphism (SNP) in the transient receptor potential canonical channel 6 (TRPC6) gene are more likely to develop neuropsychiatric manifestations (NPSLE). We functionally characterised the effects of TRPC6 on peripheral blood mononuclear cells from 18 patients with SLE and 8 healthy controls with a known genotype. TRPC6 influenced calcium currents, apoptosis rates and cytokine secretion in a disease- and genotype-dependent manner. Cells from TT patients with NPSLE were more dependent on TRPC6 for the generation of calcium currents.
Published: 2018
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16. Claudin-14 Gene Polymorphisms and Urine Calcium Excretion

Author: Cristina Barlassina, Teresa Arcidiacono, Daniele Cusi, Marco Simonini, Giuseppe Vezzoli, Paolo Manunta, Erika Salvi, Chiara Lanzani, Lorena Citterio, Donatella Spotti, Arcidiacono, Teresa, Simonini, Marco, Lanzani, Chiara, Citterio, Lorena, Salvi, Erika, Barlassina, Cristina, Spotti, Donatella, Cusi, Daniele, Manunta, Paolo, and Vezzoli, Giuseppe
Subjects: Male, 0301 basic medicine, medicine.medical_specialty, Genotype, Cations, Divalent, Epidemiology, Sodium, chemistry.chemical_element, Urine, Sodium Chloride, Calcium, Critical Care and Intensive Care Medicine, Polymorphism, Single Nucleotide, Permeability, Excretion, Kidney Calculi, 03 medical and health sciences, Retrospective Studie, Internal medicine, Humans, Medicine, Hypercalciuria, Retrospective Studies, hypercalciuria, Transplantation, claudin-16, business.industry, Reabsorption, claudin-14, Computational Biology, Middle Aged, medicine.disease, Claudin, Calcium, Dietary, Antihypertensive Agent, 030104 developmental biology, Endocrinology, chemistry, Nephrology, Paracellular transport, Claudins, Female, claudin-19, Kidney stones, business, Genome-Wide Association Study
Abstract: BACKGROUND AND OBJECTIVES Claudin-16 and -19 are proteins forming pores for the paracellular reabsorption of divalent cations in the ascending limb of Henle loop; conversely, claudin-14 decreases ion permeability of these pores. Single-nucleotide polymorphisms in gene coding for claudin-14 were associated with kidney stones and calcium excretion. This study aimed to explore the association of claudin-14, claudin-16, and claudin-19 single-nucleotide polymorphisms with calcium excretion. DESIGN, SETTING, PARTICIPANTS, & MEASUREMENTS We performed a retrospective observational study of 393 patients with hypertension who were naive to antihypertensive drugs, in whom we measured 24-hour urine calcium excretion; history of kidney stones was ascertained by interview; 370 of these patients underwent an intravenous 0.9% sodium chloride infusion (2 L in 2 hours) to evaluate the response of calcium excretion in three different 2-hour urine samples collected before, during, and after saline infusion. Genotypes of claudin-14, claudin-16, and claudin-19 were obtained from data of a previous genome-wide association study in the same patients. RESULTS Thirty-one single-nucleotide polymorphisms of the 3' region of the claudin-14 gene were significantly associated with 24-hour calcium excretion and calcium excretion after saline infusion. The most significant associated single-nucleotide polymorphism was rs219755 (24-hour calcium excretion in GG, 225±124 mg/24 hours; 24-hour calcium excretion in GA, 194±100 mg/24 hours; 24-hour calcium excretion in AA, 124±73 mg/24 hours; P
Published: 2018
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17. The risk of nephrolithiasis is causally related to inactive matrix Gla protein, a marker of vitamin K status

Author: Lotte Jacobs, Yan Li, Nicholas Cauwenberghs, Lorena Citterio, Paolo Manunta, Azusa Hara, Wen-Yi Yang, Nadja E.A. Drummen, Erika Salvi, Karel Allegaert, Fang Fei Wei, Jan A. Staessen, Cees Vermeer, Zhenyu Zhang, Tatiana Kuznetsova, Peter Verhamme, Lutgarde Thijs, Daniele Cusi, RS: CARIM - R1.02 - Vascular aspects thrombosis and haemostasis, RS: CARIM - R3.02 - Hypertension and target organ damage, Wei, Fang Fei, Thijs, Lutgarde, Zhang, Zhen Yu, Jacobs, Lotte, Yang, Wen Yi, Salvi, Erika, Citterio, Lorena, Cauwenberghs, Nichola, Kuznetsova, Tatiana, E. A. Drummen, Nadja, Hara, Azusa, Manunta, Paolo, Li, Yan, Verhamme, Peter, Allegaert, Karel, Cusi, Daniele, Vermeer, Cee, and Staessen, Jan A.
Subjects: Male, 030232 urology & nephrology, BLOOD-PRESSURE, 030204 cardiovascular system & hematology, Gastroenterology, DISEASE, nephrolithiasi, calcification, matrix Gla protein, nephrolithiasis, population science, vitamin K, 0302 clinical medicine, Belgium, KIDNEY-STONES, Matrix gla protein, OSTEOPONTIN, Phosphorylation, Extracellular Matrix Proteins, education.field_of_study, biology, Incidence, Hazard ratio, INHIBITOR, Mendelian Randomization Analysis, Middle Aged, Prognosis, 3. Good health, Nephrology, CRYSTAL-FORMATION, Female, Adult, EXPRESSION, medicine.medical_specialty, RENAL-FUNCTION, Genotype, Population, UNITED-STATES, ATHEROSCLEROSIS RISK, Young Adult, 03 medical and health sciences, Internal medicine, Mendelian randomization, medicine, Humans, education, Transplantation, Proportional hazards model, business.industry, Calcium-Binding Proteins, Odds ratio, Endocrinology, Relative risk, biology.protein, Vitamin K Deficiency, business, Biomarkers
Abstract: BACKGROUND: Vitamin K (VK)-dependent γ-glutamate carboxylation and serine phosphorylation activate matrix Gla protein (MGP) to a potent locally acting inhibitor of calcification. Nephrolithiasis represents a process of unwanted calcification associated with substantial mortality and high recurrence rates. We hypothesized that the risk of nephrolithiasis increases with VK shortage, as exemplified by higher plasma levels of desphospho-uncarboxylated MGP (dp-ucMGP). METHODS: In 1748 randomly recruited Flemish individuals (51.1% women; mean age 46.8 years), we determined dp-ucMGP and the prevalence of nephrolithiasis at baseline (April 1996-February 2015) and its incidence during follow-up until March 2016. We estimated the multivariable-adjusted relative risk associated with the doubling of dp-ucMGP, using logistic or Cox regression. We did a Mendelian randomization analysis using four MGP genotypes as instrumental variables. RESULTS: With adjustments applied for sex, age and 24-h urinary volume and calcium excretion, the odds of having prevalent nephrolithiasis [n = 144 (8.2%)] associated with dp-ucMGP was 1.31 [95% confidence interval (CI) 1.04-1.64; P = 0.022]. dp-ucMGP levels were associated (P ≤ 0.001) with MGP variants rs2098435, rs4236 and rs2430692. In the Mendelian analysis, the causal odds ratio was 3.82 (95% CI 1.15-12.7; P = 0.029). The incidence of nephrolithiasis over 12.0 years (median) was 37 cases (0.2%). With similar adjustments as before, the hazard ratio in relation to dp-ucMGP was 2.48 (95% CI 1.71-3.61; P
Published: 2018
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18. Comparison of early loosening vs delayed section of mid-urethral slings for postoperative voiding dysfunction

Author: Pinsard, Marion, Fauconnier, Arnaud, D’halluin, François, Broux, Pierre Louis, Guerin, Sonia, Gasmi, Anis, Harlicot, Jean Philippe, Lavoue, Vincent, Leveque, Jean Marc, Manunta, Andréa, Nyangoh Timoh, Krystel, Peyronnet, Benoît, Université de Rennes - Faculté de Médecine (UR Médecine), Université de Rennes (UR), Université de Versailles Saint-Quentin-en-Yvelines - UFR Sciences de la santé Simone Veil (UVSQ Santé), and Université de Versailles Saint-Quentin-en-Yvelines (UVSQ)
Subjects: Treatment, Sling, Urinary retention, Urology, Bladder outlet obstruction, Obstetrics and Gynecology, Female, Women, [SDV.MHEP.GEO]Life Sciences [q-bio]/Human health and pathology/Gynecology and obstetrics
Abstract: International audience; Introduction and hypothesis: Bladder outlet obstruction (BOO) is a common occurrence after midurethral sling (MUS) insertion and can result in acute or chronic urinary retention or de novo lower urinary tract symptoms (LUTS). However, the management of BOO after MUS is not standardised. The objective of this study was to compare two therapeutic strategies for suspected BOO after MUS. Methods: Patients who had surgical revision for voiding dysfunction with a post-void residual (PVR) ≥100 ml after MUS in five centres between 2005 and 2020 were included in a retrospective study. Patients were divided into two groups: early sling loosening (EL) vs delayed section/excision of the sling (DS). Results: Seventy patients were included: 38 in the EL group and 32 in the DS group. The postoperative complication rate was comparable in both groups (10.5% vs 12.5%; p = 0.99). At 3 months, the rate of withdrawal from self-catheterisation was similar in the two groups (92.1% vs 100%; p = 0.25) as was the PVR (57.5 vs 63.5 ml; p = 0.09). After a median follow-up of 9 months, there were significantly more patients with resolved voiding dysfunction in the EL group (63.2% vs 31.3%; p = 0.01). The rate of persistent/recurrent stress urinary incontinence (SUI) was higher in the DS group (21% vs 43.7%; p = 0.04). In multivariate analysis, the main predictive factor of recurrent SUI was DS (OR 2.87, 95% CI 1.01–8.60, p = 0.048). Conclusions: Early loosening of MUS in the case of postoperative voiding dysfunction offers better efficacy than DS of the sling, with a lower risk of recurrent/persistent SUI.
Published: 2021
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19. Red cell–bound antibodies and transfusion requirements in hospitalized patients with COVID-19

Author: Laura Porretti, Luca Valenti, Giuliana Gregato, Giuseppe Lamorte, Alessandra Bandera, Maria Manunta, Giacomo Grasselli, Nicoletta Revelli, Alberto Zanella, Francesco Bertolini, Stefania Villa, Alessandra Cattaneo, Daniele Prati, Cinzia Paccapelo, Francesca Truglio, Cristiana Bianco, Alessandra Berzuini, Elisa Erba, and Andrea Gori
Subjects: Male, Blood transfusion, Erythrocytes, Hospitalized patients, medicine.medical_treatment, 030204 cardiovascular system & hematology, Biochemistry, Immunoglobulin G, 0302 clinical medicine, Coombs test, Medicine, Letter to Blood, Aged, 80 and over, medicine.diagnostic_test, biology, Anemia, Hematology, Middle Aged, Coombs Test, 030220 oncology & carcinogenesis, Female, Antibody, Coronavirus Infections, Erythrocyte Transfusion, medicine.medical_specialty, Coronavirus disease 2019 (COVID-19), Patients, Immunology, Pneumonia, Viral, Antibodies, 03 medical and health sciences, Betacoronavirus, Internal medicine, mental disorders, Humans, Blood Transfusion, Pandemics, Aged, Autoantibodies, Red Cell, business.industry, SARS-CoV-2, COVID-19, Cell Biology, medicine.disease, biology.protein, business
Abstract: Berzuini et al report the observation that nearly half of patients with COVID-19 tested at their blood center had a positive direct antiglobulin test (DAT). However, eluates did not react with any test cells but did react with red cells from other patients with COVID-19 that were DAT negative. This suggests that COVID-19 may modulate the red cell membrane and present novel antigenic epitopes.
Published: 2020

20. Urinary biomarkers profiles in patients with neurogenic detrusor overactivity according to their neurological condition

Author: C. Voiry, C. Richard, Laurent Siproudhis, Benoit Peyronnet, Quentin Alimi, Zine-Eddine Khene, Charlène Brochard, Juliette Hascoet, Andrea Manunta, Claude Bendavid, Jacques Kerdraon, Xavier Gamé, and Guillaume Bouguen
Subjects: Adult, Male, Nephrology, medicine.medical_specialty, Multiple Sclerosis, Urology, Urinary system, 030232 urology & nephrology, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Internal medicine, medicine, Humans, Prospective Studies, Urinary Bladder, Neurogenic, Spinal Dysraphism, Spinal cord injury, Spinal Cord Injuries, Aged, Creatinine, Urinary bladder, Urinary Bladder, Overactive, business.industry, Spina bifida, Multiple sclerosis, Middle Aged, medicine.disease, Pathophysiology, medicine.anatomical_structure, chemistry, 030220 oncology & carcinogenesis, Female, business, Biomarkers
Abstract: The aim of this study was to investigate the disease-specific urinary levels variations of neurotrophins (NGF, BDNF), mediators of inflammation (TGFβ-1, PGE-2) and markers of extracellular matrix alterations (TIMP-2) in patients with multiple sclerosis (MS) spinal cord injury (SCI), or spina bifida (SB), and neurogenic detrusor overactivity (NDO). A prospective single-center study was conducted between March 2015 and March 2017. Patients aged over 18 years old, with neurological disease, with a urodynamic diagnosis of NDO were included. The urinary levels of NGF, BDNF, TIMP-2, PGE 2, and TGF-β1 were measured using dedicated ELISA kits. Forty-one patients were included: 6 with MS, 20 with SCI, and 15 with spina bifida. The average urinary level of NGF/Cr was significantly higher in MS patients compared to other neurologic populations (8 vs. 0.56 vs. 1.25 pg/mg of creatinine; p = 0.001) as well for the average urinary level of BDNF (88.3 vs. 5 vs. 4.8 pg/mg of creatinine; p
Published: 2019
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21. Pelvic fracture triggering symptoms of an underlying primary hypoparathyroidism in an adult spayed bitch: A case report

Author: Elias Pirari, Giovanni Carta, I. Ballocco, Maria Grazia Cappai, Maria Lucia Manunta, and Maria Antonietta Evangelisti
Subjects: medicine.medical_specialty, Calcitriol, Hypoparathyroidism, 040301 veterinary sciences, Reference range, Gastroenterology, 0403 veterinary science, Dogs, Food Animals, Oral administration, Internal medicine, medicine, Animals, Hypocalcaemia, Dog Diseases, Calcium metabolism, Hypocalcemia, business.industry, 0402 animal and dairy science, Limb fracture, 04 agricultural and veterinary sciences, Venous blood, medicine.disease, 040201 dairy & animal science, Parathyroid Hormone, Calcium, Female, Animal Science and Zoology, business, medicine.drug, Primary Hypoparathyroidism
Abstract: A 7-year-old mixed breed spayed bitch (body weight: 10.6 kg) was presented with a history of intermittent episodes of seizures and untreated limb fracture. Appetite loss, nervousness, lateral recumbency, fasciculations, ataxia and poor nutritional condition were found. Venous blood gas analysis highlighted normal acid-base balance and severe low ionized calcium (0.58 mEq/L [range 1.13-1.32 mEq/L]). Marked total hypocalcaemia (6.4 mg/dL [range 8-10] or 1.6 mM [range: 2-2.5]) associated with hyperphosphoraemia (9.3 mg/dl [range 3.5-6.5 mg/dl]) displayed inverted ratio between minerals. ECG showed sinus arrhythmias. Circulating levels of Mg and Cu were within physiological range (1.97 mg/dl and 128 μg/dl respectively) and effects from interactions were excluded. Oral administration of calcitriol at 40 ng/kg/day led to clinical improvement within 48 hours, but circulating iCa levels were still below the lower limit of the reference range. Baseline levels of circulating parathormone (PTH) were 3 pg/ml, along with normal values of circulating vitamin D. Primary hypoparathyroidism was diagnosed as a chronic underlying condition triggered by pelvic fracture.
Published: 2019
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22. Botulinum Toxin Type A Injection After Failure of Augmentation Enterocystoplasty Performed for Neurogenic Detrusor Overactivity: Preliminary Results of a Salvage Strategy. The ENTEROTOX Study

Author: Brigitte Perrouin-Verbe, Loïc Le Normand, Marianne de Sèze, Xavier Gamé, Benjamin Bernuz, Alexia Even, Alain Ruffion, Romain Boissier, Brigitte Schurch, Gilles Karsenty, Carine Ciceron, F. Michel, Hubert Tournebise, Philippe Grise, Pierre Denys, Emmanuel Chartier-Kastler, Andrea Manunta, Véronique Forin, Christian Saussine, and Sarah Gaillet
Subjects: Adult, Male, Adolescent, Side effect, Urology, Urinary Bladder, 030232 urology & nephrology, Enlarged bladder, Injections, Botulinum toxin a, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Humans, Medicine, In patient, Treatment Failure, Clinical efficacy, Botulinum Toxins, Type A, Urinary Bladder, Neurogenic, Retrospective Studies, Salvage Therapy, Respiratory distress, Urinary Bladder, Overactive, business.industry, Retrospective cohort study, Neuromuscular Agents, 030220 oncology & carcinogenesis, Anesthesia, Urologic Surgical Procedures, Detrusor pressure, Female, business
Abstract: Objective To evaluate the clinical efficacy, urodynamic effect and safety of Botulinum Toxin A (BTXA) injections after failure of augmentation enterocystoplasty (AE) performed for neurogenic detrusor overactivity. Patients and Methods We performed a multicenter retrospective study that included patients who had AE and at least one injection of BTXA after AE in 15 GENULF (French Speaking Neuro-Urology Study Group) centers. Clinical and urodynamic data were collected from medical files according to a standardized questionnaire and colligated in an anonymous database. Results Thirty-three patients with an injection of BTXA after AC in 9 out of 15 centers were included. Mean age at the time of AE was 24 ± 15 years. Overall efficacy (defined by clinical efficacy associated with a request by the patient for reinjection) was observed in 58% of the patients. Mean maximum cystomanometric capacity increased by 28% (333 ± 145 vs 426 ± 131 mL; P = .007) and maximum detrusor pressure (Pdet max) decreased by 43% (44 ± 37 vs 25 ± 18 cm H2O; P = .02) after BTXA. Only one side effect was recorded out of the 152 procedures (transient generalized muscle weakness without respiratory distress). Conclusion In patients with failure after AE performed for neurogenic detrusor overactivity, injection of BTXA in the enlarged bladder was effective in over half of the cases with low morbidity. If this therapeutic approach were confirmed, it could be proposed as an alternative to AE surgical revision.
Published: 2019
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23. Impact of SARS-CoV-2 infection on the recovery of peripheral blood mononuclear cells by density gradient

Author: Maria D. I. Manunta, Giuseppe Lamorte, Francesca Ferrari, Elena Trombetta, Mario Tirone, Cristiana Bianco, Alessandra Cattaneo, Luigi Santoro, Guido Baselli, Manuela Brasca, Mahnoosh Ostadreza, Elisa Erba, Andrea Gori, Alessandra Bandera, Laura Porretti, Luca V. C. Valenti, and Daniele Prati
Subjects: 0301 basic medicine, Adult, Male, Multidisciplinary, SARS-CoV-2, Science, Biological techniques, COVID-19, Cell Separation, Middle Aged, Article, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Medical research, 030220 oncology & carcinogenesis, Centrifugation, Density Gradient, Leukocytes, Mononuclear, Medicine, Humans, Female
Abstract: SARS-CoV-2 virus infection is responsible for coronavirus disease (COVID-19), which is characterised by a hyperinflammatory response that plays a major role in determining the respiratory and immune-mediated complications of this condition. While isolating peripheral blood mononuclear cells (PBMCs) from whole blood of COVID-19 patients by density gradient centrifugation, we noticed some changes in the floating properties and in the sedimentation of the cells on density medium. Investigating this further, we found that in early phase COVID-19 patients, characterised by reduced circulating lymphocytes and monocytes, the PBMC fraction contained surprisingly high levels of neutrophils. Furthermore, the neutrophil population exhibited alterations in the cell size and in the internal complexity, consistent with the presence of low density neutrophils (LDNs) and immature forms, which may explain the shift seen in the floating abilities and that may be predictive of the severity of the disease. The percentage of this subset of neutrophils found in the PBMC band was rather spread (35.4 ± 27.2%, with a median 28.8% and IQR 11.6–56.1, Welch’s t-test early phase COVID-19 versus blood donor healthy controls P
Published: 2021

24. Complement activation and endothelial perturbation parallel COVID-19 severity and activity

Author: Giuseppe Lamorte, Paola Adele Lonati, Massimo Cugno, Cristina Novembrino, Maria Manunta, Giorgio Costantino, Alessandra Bandera, Flora Peyvandi, Sara Colonia Uceda Renteria, Daniele Prati, Pier Luigi Meroni, Antonio Pesenti, Maria Orietta Borghi, Adriana Torri, Samantha Griffini, Andrea Gori, Francesco Blasi, Claudia Grossi, Roberta Gualtierotti, Francesco Tedesco, Luca Valenti, Massimo Anzoletti Boscolo, and Elena Grovetti
Subjects: Adult, Male, 0301 basic medicine, medicine.medical_specialty, Endothelium, Immunology, Disease, medicine.disease_cause, Cohort Studies, 03 medical and health sciences, 0302 clinical medicine, Von Willebrand factor, Internal medicine, medicine, Humans, Immunology and Allergy, Complement Activation, Aged, Coronavirus, Aged, 80 and over, 030203 arthritis & rheumatology, biology, SARS-CoV-2, business.industry, COVID-19, Middle Aged, Pathophysiology, Complement system, 030104 developmental biology, Endocrinology, medicine.anatomical_structure, biology.protein, Female, Endothelium, Vascular, business, Plasminogen activator, Biomarkers, Selectin
Abstract: Background Animal models and few clinical reports suggest the involvement of the complement system in the onset of severe manifestations of coronavirus disease-2019 (COVID-19). However, complement contribution to endotheliopathy and hypercoagulability has not been elucidated yet. Objective To evaluate the association among complement activation, endothelial damage and disease severity or activity in COVID-19 patients. Methods In this single-centre cohort study, 148 patients with COVID-19 of different severity were evaluated upon hospital admission and 30 days later. Markers of complement activation (SC5b-9 and C5a) and endothelial perturbation (von Willebrand factor [vWF], tissue-type plasminogen activator [t-PA], plasminogen activator inhibitor-1 [PAI-1], soluble thrombomodulin [sTM], and soluble endothelial selectin [sE-selectin]) were measured in plasma. Results The patients had high plasma levels of SC5b-9 and C5a (p = 0.0001 for both) and vWF, t-PA and PAI-1 (p = 0.0001 for all). Their SC5b-9 levels correlated with those of vWF (r = 0.517, p = 0.0001) and paralleled disease severity (severe vs mild p = 0.0001, severe vs moderate p = 0.026 and moderate vs mild p = 0.001). The levels of sE-selectin were significantly increased only in the patients with severe disease. After 30 days, plasma SC5b-9, C5a and vWF levels had significantly decreased (p = 0.0001 for all), and 43% of the evaluated patients had normal levels. Conclusions Complement activation is boosted during the progression of COVID-19 and dampened during remission, thus indicating its role in the pathophysiology of the disease. The association between complement activation and the biomarkers of endothelial damage suggests that complement may contribute to tissue injury and could be the target of specific therapy.
Published: 2021
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25. Genetic association study of exfoliation syndrome identifies a protective rare variant at LOXL1 and five new susceptibility loci

Author: Daniele Cusi, Etsuo Chihara, Leyla Al-Jasim, Ya Xing Wang, Tero Kivelä, Jinghong Sang, Adeyinka O. Ashaye, Bowen Zhao, Tan Do, Susanne Moebus, Ursula Schlötzer-Schrehardt, Shamira A. Perera, Augustine W O Cheong, Afsaneh Naderi Beni, Francisco A. Escudero-Domínguez, Yoshiaki Kiuchi, Tomomi Higashide, DS Klobassa, Friedrich E. Kruse, Nicole Weisschuh, Chunyan Qiao, Muhammad Imran Khan, Martin L. Hibberd, Arthur J. Sit, Jamie E Craig, Akitoshi Yoshida, Periasamy Sundaresan, Humaira Ayub, Kathryn P. Burdon, Jonathan G Crowston, Kazunori Miyata, Marisa Cruz-Aguilar, Markus M. Nöthen, Hasnaa Lamari, Michael A. Hauser, Louis R. Pasquale, Anneke I. den Hollander, Eija Vesti, Ursula Hoja, Raphael Q Soh, Burcu Kasım, Adeola O Onakoya, Rachel W. Kuchtey, Eugeny L. Akopov, Liang Xu, Juan Carlos Zenteno, Chaiwat Teekhasaenee, Saleh A. Al-Obeidan, Eleftherios Anastasopoulos, Anita S Y Chan, Nagahisa Yoshimura, John Kuchtey, Naris Kitnarong, Yaan Fun Chong, Boonsong Wanichwecharugruang, R.R. Fayzrakhmanov, Paul Mitchell, N Kalpana, Unnur Thorsteinsdottir, Kei Tashiro, Rajesh Kumar, Jin Wook Jeoung, Deepak P. Edward, Frederico Martinon-Torres, Bilge Batu, Anavaj Sakuntabhai, Robert N. Weinreb, Héctor González-Iglesias, Sasan Moghimi, Jia Nee Foo, Nkechi J Uche, Karen Curtin, Kenji Inoue, Lingam Vijaya, Makoto Aihara, Dilek Aktas, Norimoto Gotoh, Wasu Supakontanasan, Laura Dallorto, Takako Sugimoto, Jonathan L. Haines, Olusola Olawoye, Janey L. Wiggs, Sripriya Sarangapani, Craig J. Chaya, Theofanis Pappas, Fotis Topouzis, Eranga N. Vithana, Steffen Heegaard, Fridbert Jonasson, Kazuhiko Mori, Idakwo Ugbede, Hongyan Jia, Anthi Chatzikyriakidou, Robert P. Igo, Soon Cheol Cha, Yueming Chen, Su-Ling Ho, Zhenglin Yang, Jost B. Jonas, Francesca Pasutto, Ken Hayashi, Rahat Husain, Georg Mossböck, S Fabian Lerner, R. Rand Allingham, Priti Sahay, Fumihiko Matsuda, Yanin Suwan, Teresa Rolle, Robert Ritch, Peter Kraft, Trevor R. Carmichael, Kar Seng Sim, Raheel Qamar, Gordana Sunaric Megevand, Tomasz Zarnowski, Shazia Micheal, Scott Thomas, Paolo Frezzotti, Vera Vysochinskaya, Linda M. Zangwill, Alina Popa Cherecheanu, Tin Aung, Jessica N. Cooke Bailey, Kyu Hyung Park, Edward Dervan, Suhanya Okeke, Pablo Fornero, Sidi M Ezzouhairi, Pascal Reynier, Gudmar Thorleifsson, Michael V. Dubina, Kazuhisa Sugiyama, Sylvain Roy, Per Kappelgaard, Mineo Ozaki, Vijayan Saravanan, Carlo Lavia, Wenda L. Greer, Takanori Mizoguchi, Alireza Lashay, A. Binder, Daniel Berner, Su Qin Peh, Balram Chowbay, Nino Kobakhidze, Ifeoma N. Asimadu, Delia Sivori, Gopalakrishnan Prakadeeswari, Alexandros Lambropoulos, Michael Coote, Sergei Y. Astakhov, Shahin Yazdani, Dan Milea, Montserrat García, Lydia Álvarez, Kenji Yamashiro, Soumya Raychaudhuri, Pratap Challa, Aparna Rao, Jae H. Kang, Khai Koon Heng, Richard K. Lee, Tien Yin Wong, Alex W. Hewitt, Yoko Ikeda, Kessara Pathanapitoon, Panayiota Founti, Daniella Bach-Holm, Emmanuelle Souzeau, Margaret A. Pericak-Vance, Michèle Ramsay, Nkiru Kizor-Akaraiwe, Yosai Mori, Antonio Maria Fea, Chandrashekaran Shivkumar, Xiao Yu Ng, Jie Jin Wang, Erika Salvi, Giang T T Nguyn, Steffen Uebe, Tamara Zompa, Anne L. Coleman, Werner Zenz, Min Sagong, Luis Fernández-Vega Cueto, Farah Akhtar, Susan Williams, Sarah C. Nelson, Bradford J. Shingleton, Ryuichi Ideta, Leon W. Herndon, Zheng Li, Murat Irkec, M. Roy Wilson, Ewa Kosior-Jarecka, Christian Y. Mardin, Mozhgan Rezaei Kanavi, Tsutomu Ohashi, Abderrahman Rafei, Rengaraj Venkatesh, Stefan Herms, George Chichua, Mohammad Pakravan, Robyn M. Rautenbach, Shi Qi Mok, Trình V Nguyn, Patricio G. Schlottmann, Nassim Khatibi, Daniel Gaston, Masaru Inatani, Morio Ueno, Mukharram M. Bikbov, Eoin Silke, Homa Naderifar, Linda Hansapinyo, Paolo Manunta, Z. Xie, Urszula Lukasik, Eray Atalay, Lulin Huang, Xuyang Liu, Chie Sotozono, Shuang Ru Goh, John H. Fingert, Richard A. Mills, Khaled K. Abu-Amero, Xiao Yin Chen, Matthias Zenkel, Sergo Tabagari, Irma Järvelä, Xueyi Chen, Stéphanie Leruez, Yury S. Astakhov, Sonia Davila, Yildirim Nilgün, Ronnie George, Shin-ichi Manabe, Miguel Coca-Prados, Masahiro Miyake, Ignacio Lischinsky, Rogelio González-Sarmiento, Arkasubhra Ghosh, A. Emelyanov, Çilingir Oguz, Masakazu Nakano, Rohit Shetty, Karen Bedard, Toshiya Sakurai, Yutao Liu, Barbara M Wirostko, Hui Zhang, Ulrich-Christoph Welge-Luessen, Toshiaki Kubota, Vania Castro, Hip X Nguyn, Liyun Jia, Ari Ziskind, Hideki Chuman, Andrew C. Orr, Satoko Nakano, Daniela Paoli, Masahide Yanagi, Aravind Haripriya, Kari Stefansson, Pedro Pablo Rodríguez-Calvo, Hui Meng Soo, Chiea Chuen Khor, Gyulli M. Kazakbaeva, Osvaldo Cuello, Mei Chin Lee, Ki Ho Park, Natalia Porporato, Lourdes de Juan Marcos, Ching-Yu Cheng, Shigeyasu Kazama, Shigeru Kinoshita, Axel M. Hillmer, Alan S. Crandall, Victor H. K. Yong, Ohoud Owaidhah, Rodolfo Perez Grossmann, Jeeyun Ahn, André Reis, Nevbahar Tamçelik, Satoshi Ishiko, Antonio Salas, Ningli Wang, Singapore Eye Research Institute [Singapore] (SERI), Ozaki Eye Hospital [Miyazaki], Friedrich-Alexander Universität Erlangen-Nürnberg (FAU), deCODE genetics [Reykjavik], Mizoguchi Eye Hospital [Sasebo], Case Western Reserve University [Cleveland], Aravind Eye Hospital [Madurai, India], University of the Witwatersrand [Johannesburg] (WITS), Pavlov First Saint Petersburg State Medical University [St. Petersburg], Dalhousie University [Halifax], Flinders University [Adelaide, Australia], Kyoto Prefectural University of Medicine [Kyoto, Japon], King Saud University [Riyadh] (KSU), Genome Institute of Singapore (GIS), Aravind Medical Research Foundation (AMRF), Université de Médecine Carol Davila, Harvard Medical School [Boston] (HMS), University of Washington [Seattle], Hayashi Eye Hospital [Fukuoka], Shinjo Eye Clinic [Nagoya], Medical University of Lublin, Inoue Eye Hospital [Tokyo], Hacettepe University = Hacettepe Üniversitesi, Universidad de Oviedo [Oviedo], Kanazawa University (KU), Department of Medical and Clinical Genetics [Helsinki], Haartman Institute [Helsinki], Faculty of Medecine [Helsinki], Helsingin yliopisto = Helsingfors universitet = University of Helsinki-Helsingin yliopisto = Helsingfors universitet = University of Helsinki-Faculty of Medecine [Helsinki], Helsingin yliopisto = Helsingfors universitet = University of Helsinki-Helsingin yliopisto = Helsingfors universitet = University of Helsinki, Organizacion Medica de Investigacion (OMI BUENOS AIRES), Fundacion para el Estudio del Glaucoma [Buenos Aires], Chercheur indépendant, Eskisehir Osmangazi University, Ufa Eye Research Institute [Bashkortostan], Seoul National University Hospital, Yeungnam University [South Korea], Kyoto University, Universidad Nacional Autónoma de México = National Autonomous University of Mexico (UNAM), Universität Heidelberg [Heidelberg] = Heidelberg University, Birla Institute of Scientific Research (BISR), B. M. Birla Science and Technology Center, Faculty of Computer Science, Department of Pathology and Immunology, Geneva University Hospital (HUG), Key Laboratory for Information System Security, ministry of education, Numerical modeling and high performance computing for evolution problems in complex domains and heterogeneous media (NACHOS), Inria Sophia Antipolis - Méditerranée (CRISAM), Institut National de Recherche en Informatique et en Automatique (Inria)-Institut National de Recherche en Informatique et en Automatique (Inria)-Laboratoire Jean Alexandre Dieudonné (LJAD), Université Nice Sophia Antipolis (1965 - 2019) (UNS), COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-Centre National de la Recherche Scientifique (CNRS)-Université Côte d'Azur (UCA)-Université Nice Sophia Antipolis (1965 - 2019) (UNS), COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-Centre National de la Recherche Scientifique (CNRS)-Université Côte d'Azur (UCA), Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM), Institute of Human Genetics [Erlangen, Allemagne], Department of Ophthalmology, School of Medicine [Thessaloniki, Grèce], Aristotle University of Thessaloniki, Università degli Studi di Siena = University of Siena (UNISI), Department of Medicine, Surgery, and Dentistry, University of Milano, Japan Advanced Institute of Science and Technology (JAIST), Etudes génomiques trans-ethniques des maladies multifactorielles, Kyoto University-Institut National de la Santé et de la Recherche Médicale (INSERM), Fondation Ophtalmologique Adolphe de Rothschild [Paris], Archaeogenetics Laboratory, Génétique fonctionnelle des Maladies infectieuses - Functional Genetics of Infectious Diseases, Institut Pasteur [Paris] (IP)-Centre National de la Recherche Scientifique (CNRS), Rheinische Friedrich-Wilhelms-Universität Bonn, University of Kentucky (UK), Helsinki University Eye Hospital, Turku University Hospital, Turku, Finland, COMSATS Institute of Information Technology (CIIT), Department of Epidemiology, Harvard School of Public Health, University of Miami Leonard M. Miller School of Medicine (UMMSM), Brigham and Women's Hospital [Boston], Department of Neuroscience and Pharmacology, Section of Eye Pathology, University of Copenhagen, University of Copenhagen = Københavns Universitet (UCPH), Helsingin yliopisto = Helsingfors universitet = University of Helsinki, University of California [San Diego] (UC San Diego), University of California (UC), University of Iceland [Reykjavik], New York Eye and Ear Infirmary of Mount Sinai [New York] (NYEE), Oita University Faculty of Medicine [Oita, Japon], Radboud University Medical Center [Nijmegen], Oogheelkunde, RS: FHML non-thematic output, Kyoto University [Kyoto], Universidad Nacional Autónoma de México (UNAM), Universität Heidelberg [Heidelberg], Institut National de Recherche en Informatique et en Automatique (Inria)-Institut National de Recherche en Informatique et en Automatique (Inria)-Laboratoire Jean Alexandre Dieudonné (JAD), Dipartimento di Scienze oftalmologiche e Neurochirurgiche, Universita' degli Studi di Siena, Siena, Kyoto University [Kyoto]-Institut National de la Santé et de la Recherche Médicale (INSERM), Rothschild Hospital, Institut Pasteur [Paris]-Centre National de la Recherche Scientifique (CNRS), University of Kentucky, University of Copenhagen = Københavns Universitet (KU), University of California, Aung, Tin, Ozaki, Mineo, Lee, Mei Chin, Schlötzer Schrehardt, Ursula, Thorleifsson, Gudmar, Mizoguchi, Takanori, Igo, Robert P, Haripriya, Aravind, Williams, Susan E, Astakhov, Yury S, Orr, Andrew C, Burdon, Kathryn P, Nakano, Satoko, Mori, Kazuhiko, Abu Amero, Khaled, Hauser, Michael, Li, Zheng, Prakadeeswari, Gopalakrishnan, Bailey, Jessica N. Cooke, Cherecheanu, Alina Popa, Kang, Jae H, Nelson, Sarah, Hayashi, Ken, Manabe, Shin Ichi, Kazama, Shigeyasu, Zarnowski, Tomasz, Inoue, Kenji, Irkec, Murat, Coca Prados, Miguel, Sugiyama, Kazuhisa, Järvelä, Irma, Schlottmann, Patricio, Lerner, S. Fabian, Lamari, Hasnaa, Nilgün, Yildirim, Bikbov, Mukharram, Park, Ki Ho, Cha, Soon Cheol, Yamashiro, Kenji, Zenteno, Juan C, Jonas, Jost B, Kumar, Rajesh S, Perera, Shamira A, Chan, Anita S. Y, Kobakhidze, Nino, George, Ronnie, Vijaya, Lingam, Do, Tan, Edward, Deepak P, de Juan Marcos, Lourde, Pakravan, Mohammad, Moghimi, Sasan, Ideta, Ryuichi, Bach Holm, Daniella, Kappelgaard, Per, Wirostko, Barbara, Thomas, Samuel, Gaston, Daniel, Bedard, Karen, Greer, Wenda L, Yang, Zhenglin, Chen, Xueyi, Huang, Lulin, Sang, Jinghong, Jia, Hongyan, Jia, Liyun, Qiao, Chunyan, Zhang, Hui, Liu, Xuyang, Zhao, Bowen, Wang, Ya Xing, Xu, Liang, Leruez, Stéphanie, Reynier, Pascal, Chichua, George, Tabagari, Sergo, Uebe, Steffen, Zenkel, Matthia, Berner, Daniel, Mossböck, Georg, Weisschuh, Nicole, Hoja, Ursula, Welge Luessen, Ulrich Christoph, Mardin, Christian, Founti, Panayiota, Chatzikyriakidou, Anthi, Pappas, Theofani, Anastasopoulos, Eleftherio, Lambropoulos, Alexandro, Ghosh, Arkasubhra, Shetty, Rohit, Porporato, Natalia, Saravanan, Vijayan, Venkatesh, Rengaraj, Shivkumar, Chandrashekaran, Kalpana, Narendran, Sarangapani, Sripriya, Kanavi, Mozhgan R, Beni, Afsaneh Naderi, Yazdani, Shahin, Lashay, Alireza, Naderifar, Homa, Khatibi, Nassim, Fea, Antonio, Lavia, Carlo, Dallorto, Laura, Rolle, Teresa, Frezzotti, Paolo, Paoli, Daniela, Salvi, Erika, Manunta, Paolo, Mori, Yosai, Miyata, Kazunori, Higashide, Tomomi, Chihara, Etsuo, Ishiko, Satoshi, Yoshida, Akitoshi, Yanagi, Masahide, Kiuchi, Yoshiaki, Ohashi, Tsutomu, Sakurai, Toshiya, Sugimoto, Takako, Chuman, Hideki, Aihara, Makoto, Inatani, Masaru, Miyake, Masahiro, Gotoh, Norimoto, Matsuda, Fumihiko, Yoshimura, Nagahisa, Ikeda, Yoko, Ueno, Morio, Sotozono, Chie, Jeoung, Jin Wook, Sagong, Min, Park, Kyu Hyung, Ahn, Jeeyun, Cruz Aguilar, Marisa, Ezzouhairi, Sidi M, Rafei, Abderrahman, Chong, Yaan Fun, Ng, Xiao Yu, Goh, Shuang Ru, Chen, Yueming, Yong, Victor H. K, Khan, Muhammad Imran, Olawoye, Olusola O, Ashaye, Adeyinka O, Ugbede, Idakwo, Onakoya, Adeola, Kizor Akaraiwe, Nkiru, Teekhasaenee, Chaiwat, Suwan, Yanin, Supakontanasan, Wasu, Okeke, Suhanya, Uche, Nkechi J, Asimadu, Ifeoma, Ayub, Humaira, Akhtar, Farah, Kosior Jarecka, Ewa, Lukasik, Urszula, Lischinsky, Ignacio, Castro, Vania, Grossmann, Rodolfo Perez, Megevand, Gordana Sunaric, Roy, Sylvain, Dervan, Edward, Silke, Eoin, Rao, Aparna, Sahay, Priti, Fornero, Pablo, Cuello, Osvaldo, Sivori, Delia, Zompa, Tamara, Mills, Richard A, Souzeau, Emmanuelle, Mitchell, Paul, Wang, Jie Jin, Hewitt, Alex W, Coote, Michael, Crowston, Jonathan G, Astakhov, Sergei Y, Akopov, Eugeny L, Emelyanov, Anton, Vysochinskaya, Vera, Kazakbaeva, Gyulli, Fayzrakhmanov, Rinat, Al Obeidan, Saleh A, Owaidhah, Ohoud, Aljasim, Leyla Ali, Chowbay, Balram, Foo, Jia Nee, Soh, Raphael Q, Sim, Kar Seng, Xie, Zhicheng, Cheong, Augustine W. O, Mok, Shi Qi, Soo, Hui Meng, Chen, Xiao Yin, Peh, Su Qin, Heng, Khai Koon, Husain, Rahat, Ho, Su Ling, Hillmer, Axel M, Cheng, Ching Yu, Escudero Domínguez, Francisco A, González Sarmiento, Rogelio, Martinon Torres, Frederico, Salas, Antonio, Pathanapitoon, Kessara, Hansapinyo, Linda, Wanichwecharugruang, Boonsong, Kitnarong, Nari, Sakuntabhai, Anavaj, Nguyn, Hip X, Nguyn, Giang T. T, Nguyn, Trình V, Zenz, Werner, Binder, Alexander, Klobassa, Daniela S, Hibberd, Martin L, Davila, Sonia, Herms, Stefan, Nöthen, Markus M, Moebus, Susanne, Rautenbach, Robyn M, Ziskind, Ari, Carmichael, Trevor R, Ramsay, Michele, Álvarez, Lydia, García, Montserrat, González Iglesias, Héctor, Rodríguez Calvo, Pedro P, Cueto, Luis Fernández Vega, Oguz, Çilingir, Tamcelik, Nevbahar, Atalay, Eray, Batu, Bilge, Aktas, Dilek, Kasım, Burcu, Wilson, M. Roy, Coleman, Anne L, Liu, Yutao, Challa, Pratap, Herndon, Leon, Kuchtey, Rachel W, Kuchtey, John, Curtin, Karen, Chaya, Craig J, Crandall, Alan, Zangwill, Linda M, Wong, Tien Yin, Nakano, Masakazu, Kinoshita, Shigeru, den Hollander, Anneke I, Vesti, Eija, Fingert, John H, Lee, Richard K, Sit, Arthur J, Shingleton, Bradford J, Wang, Ningli, Cusi, Daniele, Qamar, Raheel, Kraft, Peter, Pericak Vance, Margaret A, Raychaudhuri, Soumya, Heegaard, Steffen, Kivelä, Tero, Reis, André, Kruse, Friedrich E, Weinreb, Robert N, Pasquale, Louis R, Haines, Jonathan L, Thorsteinsdottir, Unnur, Jonasson, Fridbert, Allingham, R. Rand, Milea, Dan, Ritch, Robert, Kubota, Toshiaki, Tashiro, Kei, Vithana, Eranga N, Micheal, Shazia, Topouzis, Foti, Craig, Jamie E, Dubina, Michael, Sundaresan, Periasamy, Stefansson, Kari, Wiggs, Janey L, Pasutto, Francesca, Khor, Chiea Chuen, University of Helsinki-University of Helsinki-Faculty of Medecine [Helsinki], University of Helsinki-University of Helsinki, Université Côte d'Azur (UCA)-Université Nice Sophia Antipolis (... - 2019) (UNS), COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-Centre National de la Recherche Scientifique (CNRS)-Université Côte d'Azur (UCA)-Université Nice Sophia Antipolis (... - 2019) (UNS), COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-Centre National de la Recherche Scientifique (CNRS), Centre National de la Recherche Scientifique (CNRS)-Institut Pasteur [Paris], and University of Helsinki
Subjects: 0301 basic medicine, Male, Calcium Channels/genetics, Messenger, Medizin, PSEUDOEXFOLIATION SYNDROME, Genome-wide association study, BLOOD-PRESSURE, Disease, Exfoliation Syndrome, Eye, Exfoliation Syndrome/ethnology/genetics, Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12], 0302 clinical medicine, PARKINSONS-DISEASE, 80 and over, ta319, Missense mutation, Genetics, Aged, 80 and over, Amino Acid Oxidoreductases/genetics/physiology, Alleles, Amino Acid Oxidoreductases, Amino Acid Substitution, Asian Continental Ancestry Group, Calcium Channels, Cell Adhesion, Extracellular Matrix, Female, Gene Expression Profiling, Genetic Predisposition to Disease, Haplotypes, Humans, Molecular Chaperones, RNA, Messenger, Spheroids, Cellular, Genome-Wide Association Study, Mutation, Missense, Point Mutation, Metaanalysis, [SDV.BIBS]Life Sciences [q-bio]/Quantitative Methods [q-bio.QM], 3. Good health, ALZHEIMERS-DISEASE, [SDV.MP.VIR]Life Sciences [q-bio]/Microbiology and Parasitology/Virology, Molecular Chaperones/biosynthesis/genetics, Biology, SYNONYMOUS MUTATIONS, ta3111, Article, 03 medical and health sciences, Asian People, Asian Continental Ancestry Group/genetics, [SDV.MP.PAR]Life Sciences [q-bio]/Microbiology and Parasitology/Parasitology, Allele, Risk factor, GENOME-WIDE ASSOCIATION, Eye/metabolism, Aged, Genetic association, [SDV.GEN.GPO]Life Sciences [q-bio]/Genetics/Populations and Evolution [q-bio.PE], Haplotype, Individuals, Glaucoma, Odds ratio, Extracellular Matrix/metabolism, RNA, Messenger/biosynthesis, MACULAR DEGENERATION, RISK LOCI, eye diseases, COMMON SEQUENCE VARIANTS, 030104 developmental biology, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Mutation, 030221 ophthalmology & optometry, RNA, [SDV.SPEE]Life Sciences [q-bio]/Santé publique et épidémiologie, Cellular, Spheroids, Missense, [INFO.INFO-BI]Computer Science [cs]/Bioinformatics [q-bio.QM], Polymorphisms, purl.org/pe-repo/ocde/ford#1.06.07 [https], INFLAMMATORY-BOWEL-DISEASE
Abstract: International audience; Exfoliation syndrome (XFS) is the commonest known risk factor for secondary glaucoma and a significant cause of blindness worldwide. Variants in two genes, LOXL1 and CACNA1A have been previously associated with XFS. To further elucidate the genetic basis of XFS, we collected a global sample of XFS cases to refine the association at LOXL1, which previously showed inconsistent results between populations,and to identify new variants associated with XFS. We identified a rare, protective allele at LOXL1 (p.407Phe, OR= 25, P=2.9 x 10-14) through deep resequencing of XFS cases and controls from 9 countries. This variant results in increased cellular adhesion strength compared to the wild-type (p.407Tyr) allele. A genome-wide association study (GWAS) of XFS cases and controls from 24 countries followed by replication in 18 countries identified seven genome-wide significant loci (P < 5 x 10-8). Index variants at the new loci map to chromosomes 13q12 (POMP), 11q23.3 (TMEM136), 6p21 (AGPAT1), 3p24 (RBMS3) and 5q23 (near SEMA6A). These findings provide biological insights into the pathology of XFS, and highlight a potential role for naturally occurring rare LOXL1 variants in disease biology.
Published: 2017
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26. Na+, K+-ATPase activity in children with autism spectrum disorder: Searching for the reason(s) of its decrease in blood cells

Author: Bolotta A, Visconti P, Fedrizzi G, Ghezzo A, Marini M, Manunta P, Messaggio E, Posar A, Vignini A, Abruzzo PM, Bolotta, A., Visconti, P., Fedrizzi, G., Ghezzo, A., Marini, M., Manunta, P., Messaggio, E., Posar, A., Vignini, A., Abruzzo, P. M., and Bolotta A, Visconti P, Fedrizzi G, Ghezzo A, Marini M, Manunta P, Messaggio E, Posar A, Vignini A, Abruzzo PM
Subjects: Male, metal, Autism Spectrum Disorder, autism spectrum disorders, Na+, K+-ATPase, erythrocyte membrane, metals, autism spectrum disorder, K, +, beta-actin, NRF2, mental disorders, oxidative stress, Humans, Na, Child, Genetics (clinical), oxidative stre, ATPase, Neuroscience (all), membrane lipids, respiratory system, membrane lipid, Child, Preschool, Female, Neurology (clinical), Sodium-Potassium-Exchanging ATPase, endogenous ouabain
Abstract: Na+, K+-ATPase (NKA) activity, which establishes the sodium and potassium gradient across the cell membrane and is instrumental in the propagation of the nerve impulses, is altered in a number of neurological and neuropsychiatric disorders, including autism spectrum disorders (ASD). In the present work, we examined a wide range of biochemical and cellular parameters in the attempt to understand the reason(s) for the severe decrease in NKA activity in erythrocytes of ASD children that we reported previously. NKA activity in leukocytes was found to be decreased independently from alteration in plasma membrane fluidity. The different subunits were evaluated for gene expression in leukocytes and for protein expression in erythrocytes: small differences in gene expression between ASD and typically developing children were not apparently paralleled by differences in protein expression. Moreover, no gross difference in erythrocyte plasma membrane oxidative modifications was detectable, although oxidative stress in blood samples from ASD children was confirmed by increased expression of NRF2 mRNA. Interestingly, gene expression of some NKA subunits correlated with clinical features. Excess inhibitory metals or ouabain-like activities, which might account for NKA activity decrease, were ruled out. Plasma membrane cholesterol, but not phosphatidylcholine and phosphatidlserine, was slighty decreased in erythrocytes from ASD children. Although no compelling results were obtained, our data suggest that alteration in the erytrocyte lipid moiety or subtle oxidative modifications in NKA structure are likely candidates for the observed decrease in NKA activity. These findings are discussed in the light of the relevance of NKA in ASD. Autism Research 2018. © 2018 The Authors. Autism Research published by International Society for Autism Research and Wiley Periodicals, Inc. Lay Summary: The activity of the cell membrane enzyme NKA, which is instrumental in the propagation of the nerve impulses, is severely decreased in erythrocytes from ASD children and in other brain disorders, yet no explanation has been provided for this observation. We strived to find a biological/biochemical cause of such alteration, but most queries went unsolved because of the complexity of NKA regulation. As NKA activity is altered in many brain disorders, we stress the relevance of studies aimed at understanding its regulation in ASD.
Published: 2018

27. Klotho Gene in Human Salt-Sensitive Hypertension

Author: Marco Simonini, Simone Fontana, Elena Brioni, Lorena Citterio, Laura Zagato, Elisabetta Messaggio, Chiara Lanzani, Simona Delli Carpini, Daniele Cusi, Paolo Manunta, Cristina Barlassina, Sara Lupoli, Citterio, L., Carpini, S. D., Lupoli, S., Brioni, E., Simonini, M., Fontana, S., Zagato, L., Messaggio, E., Barlassina, C., Cusi, D., Manunta, P., and Lanzani, C.
Subjects: Male, Time Factors, Epidemiology, genotype, medicine.medical_treatment, 030232 urology & nephrology, Blood Pressure, Critical Care and Intensive Care Medicine, Kidney, 0302 clinical medicine, cohort studies, single nucleotide polymorphism, Polymorphism (computer science), Medicine, humans, Infusions, Intravenous, Klotho, Saline, Glucuronidase, 0303 health sciences, dietary sodium chloride, blood pressure, Middle Aged, animals, Nephrology, alleles, sodium chloride, Hypertension, Female, Saline Solution, Glomerular Filtration Rate, Adult, kidney, medicine.medical_specialty, hypertension, mice, natriuresis, Renal function, saline solution, Single-nucleotide polymorphism, genetics and development, transgenic mice, Polymorphism, Single Nucleotide, Natriuresis, 03 medical and health sciences, Internal medicine, Humans, Genetic Predisposition to Disease, Salt intake, Klotho Proteins, 030304 developmental biology, Transplantation, genome-wide association study, business.industry, Original Articles, Blood pressure, Endocrinology, business, Biomarkers, Genome-Wide Association Study
Abstract: BACKGROUND AND OBJECTIVES: Hypertension is a common aging-related disorder. Salt intake is one of the main environmental factors contributing to the development of hypertension. Transgenic mice with one-half Klotho deficiency displayed a spontaneous BP increase and salt-sensitive hypertension in response to high sodium intake. Usually circulating levels of α-Klotho decrease with age, and this reduction may be stronger in patients with several aging-related diseases. This study aimed at exploring the association of Klotho with salt sensitivity in humans. DESIGN, SETTING, PARTICIPANTS, & MEASUREMENTS: The role of Klotho polymorphisms and α-Klotho serum levels was evaluated in patients with hypertension who were treatment naive and underwent an acute salt-sensitivity test (discovery n=673, intravenous 2 L of 0.9% saline in 2 hours). Salt sensitivity was defined as a mean BP increase of >4 mm Hg at the end of the infusion. A total of 32 single nucleotide polymorphisms in the Klotho gene (KL), previously identified with a genome-wide association study, were used in the genetic analysis and studied for a pressure-natriuresis relationship. RESULTS: Of the patients with hypertension, 35% were classified as salt sensitive. The most relevant polymorphism associated with pressure natriuresis was the common missense single nucleotide polymorphism rs9536314, and the GG and GT genotypes were more represented among patients who were salt sensitive (P=0.001). Those carrying the G allele showed a less steep pressure-natriuresis relationship, meaning that a significant increase in mean BP was needed to excrete the same quantity of salt compared with patients who were salt resistant. KL rs9536314 also replicated the pressure-natriuresis association in an independent replication cohort (n=193) and in the combined analysis (n=866). There was an inverse relationship between circulating Klotho and mean BP changes after the saline infusion (r=−0.14, P=0.03). Moreover, circulating α-Klotho was directly related to kidney function at baseline eGFR (r=0.22, P
Published: 2019

28. Lanosterol Synthase Genetic Variants, Endogenous Ouabain, and Both Acute and Chronic Kidney Injury

Author: Elisabetta Messaggio, Elena Bignami, Nunzia Casamassima, Simona Delli Carpini, Giacomo Dell'Antonio, Ottavio Alfieri, Lorena Citterio, Marco Simonini, John M. Hamlyn, Alberto Zangrillo, Simone Fontana, Lorenza Macrina, Roberta Meroni, Chiara Lanzani, Rossella Iatrino, Elena Brioni, Paolo Manunta, Laura Zagato, Iatrino, Rossella, Lanzani, Chiara, Bignami, Elena, Casamassima, Nunzia, Citterio, Lorena, Meroni, Roberta, Zagato, Laura, Zangrillo, Alberto, Alfieri, Ottavio, Fontana, Simone, Macrina, Lorenza, Delli Carpini, Simona, Messaggio, Elisabetta, Brioni, Elena, Dell'Antonio, Giacomo, Manunta, Paolo, Hamlyn, John M., and Simonini, Marco
Subjects: Male, 030232 urology & nephrology, endogenous ouabain (EO), renal damage, single-nucleotide polymorphism (SNP), Essential hypertension, Gastroenterology, Postoperative Complications, 0302 clinical medicine, Prospective Studies, 030212 general & internal medicine, acute kidney injury (AKI), Ouabain, Prospective cohort study, Intramolecular Transferases, Kidney, cardiovascular surgery, estimated glomerular filtration rate (eGFR), Acute Kidney Injury, Middle Aged, medicine.anatomical_structure, risk factor, Nephrology, Cohort, genetic mutation, Biomarker (medicine), biomarker, Female, Cohort study, Adult, medicine.medical_specialty, hypertension, Adolescent, Radioimmunoassay, Renal function, Young Adult, 03 medical and health sciences, Internal medicine, medicine, Humans, Renal Insufficiency, Chronic, Risk factor, Aged, Lanosterol synthase (LSS), urogenital system, business.industry, Cardiovascular Surgical Procedures, Genetic Variation, medicine.disease, Cross-Sectional Studies, business, Follow-Up Studies
Abstract: Rationale & Objective: Studies of humans and animals have suggested that endogenous ouabain (EO) and related genes are mediators of acute (AKI) and chronic kidney injury. We sought to examine the relationship among EO levels, genetic variants in lanosterol synthase (LSS; an enzyme that catalyzes synthesis of cholesterol, a precursor of EO), and both AKI and chronic kidney injury. Study Design: 2 prospective observational cohort studies and a cross-sectional study of kidney tissue. Setting & Participants: (1) A prospective cohort study of patients undergoing cardiovascular surgery, (2) measurement of EO concentration in kidney tissue removed because of an adjacent tumor, and (3) a prospective cohort study of patients with newly diagnosed essential hypertension. Exposure: Missense variant in LSS (A instead of C allele at rs2254524), which leads to a valine to leucine substitution at amino acid 642. Outcomes: Development of postoperative AKI in the cardiovascular surgery cohort, EO concentration in kidney tissue, and estimated glomerular filtration rate (eGFR) reductions in the essential hypertension cohort. Analytical Approach: Logistic regression for analysis of postoperative AKI, analysis of variance for EO concentration in kidney tissue, and generalized linear models for changes in eGFR over time. Results: AKI incidence following cardiovascular surgery was greater among those with the LSS rs2254524 AA genotype (30.7%) than in those with the CC genotype (17.4%; P = 0.001). LSS rs2254524 AA kidneys had higher EO concentrations than CC kidneys (2.14 ± 0.29 vs 1.25 ± 0.08 ng/g; P < 0.001). In the longitudinal study of patients with essential hypertension (median follow-up, 4 years; range, 1-15 years), eGFR decline was greater among the LSS rs2254524 AA genotype group (−4.39 ± 1.18 mL/min/1.73 m2 per year) than in the AC or CC genotype groups (−1.07 ± 0.55 and −2.00 ± 0.45 mL/min/1.73 m2 per year respectively; P = 0.03). Limitations: These associations do not necessarily represent causal relationships; LSS rs2254524 variants may have effects on other steroid hormones. Conclusions: These findings support the potential value of LSS rs2254524 genotype–based risk stratification to identify patients at high risk for AKI before cardiovascular surgery, as well as predict accelerated eGFR in the setting of hypertension. These findings also suggest that LSS may in part drive EO-mediated kidney damage. EO may represent a new potential therapeutic target for the prevention of AKI and slowing of kidney damage in the setting of hypertension.
Published: 2019

29. [Psychological Assessment of a sample of women with ADPKD: quality of life, body image, anxiety and depression]

Author: Delli Zotti, Giulia Bruna, Sangiovanni, Eleonora, Brioni, Elena, Ratti, Maria Monica, Sciarrone Aliprandi, Maria Teresa, Spotti, Donatella, Manunta, Paolo, Sarno, Lucio, Delli Zotti, Giulia Bruna, Sangiovanni, Eleonora, Brioni, Elena, Ratti, Maria Monica, Sciarrone Aliprandi, Maria Teresa, Spotti, Donatella, Manunta, Paolo, and Sarno, Lucio
Subjects: Adult, hypertension, quality of life, body image, Depression, Humans, Female, psychological assessment, Anxiety, Middle Aged, Polycystic Kidney, Autosomal Dominant, ADPKD
Abstract: The Autosomal Dominant Polycystic Kidney Disease (ADPKD) is a chronic renal disease that has not yet been the subject of psychological research. There are only a few studies related to the consequences and complications of this pathology on female patients, although women affected by this disease present serious problems.
Published: 2019

30. Prospective multicentre observational study assessing the tolerance and perception of patients using the Liquick Base catheter with an Ergothan tip

Author: P. Costa, X. Gamé, François Marcelli, D. Goossens, Evelyne Castel-Lacanal, Brigitte Perrouin-Verbe, Laurent Guy, Kathleen Charvier, M.-J. Scribe, S. Rouleaud, Jacques Kerdraon, L. Gania, N. Wolff, Andrea Manunta, Service d'Urologie - Transplantation Rénale - Andrologie, CHU Toulouse [Toulouse]-Hôpital de Rangueil, CHU Toulouse [Toulouse], Service de Médecine Physique et Réadaptation, CHU Bordeaux [Bordeaux], Centre Hospitalier Universitaire de Nîmes (CHU Nîmes), Centre Mutualiste de Rééducation et de Réadaptation Fonctionnelles de KERPAPE [Ploemeur] (CMRRF), Centre Mutualiste de Rééducation et de Réadaptation Fonctionnelles de Kerpape, Service d'urologie [Rennes] = Urology [Rennes], Hôpital Pontchaillou-CHU Pontchaillou [Rennes], Service d'Urologie [CHU Clermont-ferrand], CHU Gabriel Montpied [Clermont-Ferrand], CHU Clermont-Ferrand-CHU Clermont-Ferrand, Service de médecine physique et de réadaptation (MPR), and Fondation Sainte Marie
Subjects: Adult, Male, medicine.medical_specialty, Urology, [SDV]Life Sciences [q-bio], 030232 urology & nephrology, Urinary Catheters, 03 medical and health sciences, 0302 clinical medicine, Humans, Medicine, Prospective Studies, Urinary Bladder, Neurogenic, 10. No inequality, Aged, Medical attention, business.industry, Patient Preference, Equipment Design, Evidence-based medicine, Middle Aged, 3. Good health, Surgery, Catheter, Patient perceptions, Female, Observational study, Self Report, False passage, Urinary Catheterization, business, Attitude to Health
Abstract: Summary Introduction Intermittent self-catheterisation has revolutionised the management of neurogenic bladder-sphincter dysfunctions. The Liquick Base catheter is characterised by a streamlined Ergothan tip. The purpose of this study is to assess the tolerance and perception of patients using this catheter. Materials and methods A French prospective multicentre observational study was conducted on patients with neurogenic bladder-sphincter dysfunctions. Upon inclusion in the study, the doctor completed a questionnaire on the patient's pathology. After 3 and 6 months, the doctor checked for neurogenic developments or observations and looked for any complications relating to intermittent self-catheterisation. The patient completed a questionnaire to assess his or her perception of using the catheter. Results Out of 42 patients included in the study, two were excluded. Out of the 40 assessed patients (30 males, 10 females) with an average age of 50.1 ± 14.9 years, there were no reported cases of false passage. Bleeding occurred at least once in 10 patients (25%) in the first three months and in three out of 20 patients (15%) between 3 and 6 months. Two (5%) patients sought medical attention in the first three months for complications related to the catheter and 4 patients sought medical attention (10%) between 3 and 6 months. After 3 months 90% of patients were still using the catheter and after 6 months 90% of patients were still using the catheter. Conclusion The Liquick Base catheter is well tolerated. Patient perception is positive for all parameters being examined, leading to the continued use of the catheter in 90% of cases. Level of evidence 2.
Published: 2020
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31. Prognostic factors after adrenalectomy for adrenal metastasis

Author: E. Huyghe, Matthieu Thoulouzan, François-Xavier Nouhaud, Andrea Manunta, R. Betari, S. Oumakhlouf, Mathieu Roumiguié, Fabien Saint, N. Schoentgen, A. Rammal, A. Goujon, Georges Fournier, V. Vanalderwerelt, P. Grise, Karim Bensalah, Vincent Joulin, Franck Bruyère, N. Brichart, Benoit Peyronnet, Benjamin Pradere, and Michel Soulié
Subjects: Nephrology, Oncology, Male, medicine.medical_specialty, Urology, medicine.medical_treatment, 030232 urology & nephrology, Adrenal Gland Neoplasms, 030204 cardiovascular system & hematology, Disease-Free Survival, Metastasis, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, medicine, Humans, Aged, Retrospective Studies, Univariate analysis, Proportional hazards model, business.industry, Adrenalectomy, Metastasectomy, Retrospective cohort study, Kidney Neoplasm, Middle Aged, medicine.disease, Prognosis, Primary tumor, Survival Rate, Female, business
Abstract: Very few studies have sought prognostic factors after adrenalectomy for metastasis. The aim of this study was to assess prognostic factors for oncological outcomes after adrenalectomy for adrenal metastasis. All adrenalectomies for metastases performed in seven centers between 2006 and 2016 were included in a retrospective study. Recurrence-free survival (RFS) and cancer-specific survival (CSS) were estimated using the Kaplan–Meier method. Prognostic factors for CSS and RFS were sought by Cox regression analyses. 106 patients were included. The primary tumors were mostly renal (47.7%) and pulmonary (32.3%). RFS and CSS estimated rates at 5 years were 20.7% and 63.7%, respectively. In univariate analysis, tumor size (HR 3.83; p = 0.04) and the metastasis timing (synchronous vs. metachronous; HR 0.47; p = 0.02) were associated with RFS. In multivariate analysis, tumor size (HR 8.28; p = 0.01) and metastasis timing (HR 18.60; p = 0.002) were significant factors for RFS. In univariate analysis, the renal origin of the primary tumor (HR 0.1; p
Published: 2020

32. Risk of prolapse and urinary complications in adult spina bifida patients with neurogenic acontractile detrusor using clean intermittent catheterization versus Valsalva voiding

Author: C. Richard, Charlène Brochard, Jacques Kerdraon, Laurent Siproudhis, Xavier Gamé, Zine-Eddine Khene, Isabelle Bonan, Quentin Alimi, M. Jezequel, Andrea Manunta, Juliette Hascoet, Mehdi El Akri, B. Peyronnet, CHU Pontchaillou [Rennes], Foie, métabolismes et cancer, Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), Centre d'Investigation Clinique [Rennes] (CIC), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Hôpital Pontchaillou-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre Mutualiste de Rééducation et de Réadaptation Fonctionnelles de Kerpape, CHU Toulouse [Toulouse], Université de Rennes (UR)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), Université de Rennes (UR)-Hôpital Pontchaillou-Institut National de la Santé et de la Recherche Médicale (INSERM), and Centre Hospitalier Universitaire de Toulouse (CHU Toulouse)
Subjects: Adult, Male, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, [SDV]Life Sciences [q-bio], Urology, Urinary system, 030232 urology & nephrology, acontractile, urologic and male genital diseases, 03 medical and health sciences, 0302 clinical medicine, Risk Factors, Uterine Prolapse, Intussusception (medical disorder), Urinary Bladder, Underactive, Clinical endpoint, Humans, Medicine, Intermittent Urethral Catheterization, Urinary Complication, Urinary Bladder, Neurogenic, Spinal Dysraphism, Retrospective Studies, valsalva pelvic organ prolapse, 030219 obstetrics & reproductive medicine, Urinary bladder, business.industry, Spina bifida, clean-intermittent catheterization, medicine.disease, spina bifida, body regions, Rectal prolapse, medicine.anatomical_structure, 030220 oncology & carcinogenesis, Relative risk, Urinary Tract Infections, Female, Neurology (clinical), urinary tract infection, business, urinary bladder, rectal prolapse
Abstract: International audience; Aims - To assess the relative risks of pelvic organ prolapse (POP) and urinary complications in adult spina bifida patients with neurogenic acontractile detrusor voiding with Valsalva versus those using clean-intermittent catheterization (CIC). Methods - We conducted a retrospective analysis including all spina bifida patients with neurogenic acontractile detrusor with a minimum follow-up of 12 months. Patients were then divided in two groups according to their bladder management: voiding with Valsalva versus CIC. The primary endpoint was any de novo or worsened rectal and/or pelvic organ prolapse (POP) diagnosed during follow-up. The secondary outcome was urinary complications defined as febrile urinary tract infections (UTI) and/or urolithiasis and/or renal failure. Results - Fifty-five patients (50.9% were males) met the inclusion/exclusion criteria: 28 voiding with Valsalva and 27 performing CIC. At baseline, the rates of vaginal prolapse (44.4% vs 50%; P = 0.99), and rectal prolapse/intussusception (25.9% vs 21.4%; P = 0.76) were similar in both groups. After a median follow-up of 80.6 and 65.6 months, respectively (P = 0.29), the rate of de novo or worsened rectal prolapse/intussusception was higher in the Valsalva voiding group than in the CIC group (32.1% vs 3.7%; P = 0.01). De novo or worsened vaginal prolapses were also more common in the Valsalva voiding group, but it did not reach statistical significance (33.3% vs 11.1%; P = 0.29). Conclusions - Valsalva voiding might be harmful in adult spina bifida patients with neurogenic acontractile detrusor as it may increase the risk of rectal prolapse/intussusception. Overall, the prevalence of POP and rectal prolapse was high in both groups.
Published: 2018
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33. Intradetrusor Injections of Botulinum Toxin A in Adults with Spinal Dysraphism

Author: Marie-Aimée Perrouin-Verbe, Xavier Biardeau, Pierre Denys, Loic Lenormand, Maximilien Baron, Jean-Nicolas Cornu, Christian Saussine, Emmanuel Chartier-Kastler, Xavier Gamé, Gilles Karsenty, Marianne de Sèze, Brigitte Schurch, Véronique Phé, Genulf, Jean-Michel Boutin, Gérard Amarenco, Alexia Even, Benoit Peyronnet, Grégoire Capon, Andrea Manunta, Juliette Hascoet, CHU Pontchaillou [Rennes], Hôpital Raymond Poincaré [AP-HP], service d'urologie [CHU Bordeaux], CHU Bordeaux [Bordeaux], Clinique Saint Augustin, Service d'Urologie, andrologie et transplantation rénale [CHRU Lille], Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Service d'urologie [Rouen], CHU Rouen, Normandie Université (NU)-Normandie Université (NU)-Université de Rouen Normandie (UNIROUEN), Normandie Université (NU), Université de Nantes (UN), Service d'urologie [Tours], Centre Hospitalier Régional Universitaire de Tours (CHRU Tours)-Hôpital Bretonneau, Université de Strasbourg (UNISTRA), Service d'Urologie [CHU Pitié-Salpêtrière], CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Service d'urologie [CHU Tenon], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Tenon [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Nutrition, inflammation et dysfonctionnement de l'axe intestin-cerveau (ADEN), Université de Rouen Normandie (UNIROUEN), Normandie Université (NU)-Normandie Université (NU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Institute for Research and Innovation in Biomedicine (IRIB), Normandie Université (NU)-Normandie Université (NU)-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM), UNIROUEN - UFR Santé (UNIROUEN UFR Santé), Normandie Université (NU)-Normandie Université (NU), Chirurgie urologique et transplantation rénale [Hôpital de la Conception - APHM], Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)-Hôpital de la Conception [CHU - APHM] (LA CONCEPTION), Université de Lausanne (UNIL), Service de médecine physique et réadaptation [CHU Raymond-Poincaré], Physiologie et physiopathologie de la motricité chez l'homme, Université Pierre et Marie Curie - Paris 6 (UPMC)-IFR70-Institut National de la Santé et de la Recherche Médicale (INSERM), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Université Fédérale Toulouse Midi-Pyrénées, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), CHU Tenon [AP-HP], Normandie Université (NU)-Normandie Université (NU)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Université de Lausanne = University of Lausanne (UNIL), and Université de Toulouse (UT)
Subjects: Male, medicine.medical_specialty, type A, Multivariate analysis, Spinal dysraphism, Urology, 030232 urology & nephrology, overactive, Urinary incontinence, Injections, Intralesional, Severity of Illness Index, [SDV.MHEP.UN]Life Sciences [q-bio]/Human health and pathology/Urology and Nephrology, Botulinum toxin a, Cohort Studies, 03 medical and health sciences, 0302 clinical medicine, Predictive Value of Tests, medicine, Clinical endpoint, Humans, Botulinum Toxins, Type A, Retrospective Studies, Analysis of Variance, 030219 obstetrics & reproductive medicine, Urinary bladder, Urinary Bladder, Overactive, business.industry, Spina bifida, adult, Prognosis, botulinum toxins, medicine.disease, 3. Good health, Treatment Outcome, medicine.anatomical_structure, Multivariate Analysis, Quality of Life, spinal dysraphism, Patient Compliance, Detrusor pressure, Female, medicine.symptom, business, urinary bladder, urodynamics
Abstract: International audience; Purpose:The aim of the current study was to determine the outcomes of botulinum toxin A intradetrusor injections in adult patients with spina bifida.Materials and methods:All patients with spinal dysraphism who underwent intradetrusor injections of botulinum toxin A from 2002 to 2016 at a total of 14 centers were retrospectively included in analysis. The primary end point was the global success of injections, defined subjectively as the combination of urgency, urinary incontinence and detrusor overactivity/low bladder compliance resolution. Univariate and multivariate analysis was performed to seek predictors of global success.Results:A total of 125 patients were included in study. The global success rate of the first injection was 62.3% with resolution of urinary incontinence in 73.5% of patients. All urodynamic parameters had improved significantly by 6 to 8 weeks compared to baseline, including maximum detrusor pressure (–12 cm H 2O, p
Published: 2018
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34. Effect of Monacolin K and COQ10 supplementation in hypertensive and hypercholesterolemic subjects with metabolic syndrome

Author: Salvatore Lenti, Ezio Di Giacomo, Roberto Manunta, Danyelle M. Townsend, Laura Schiavon, Gioia Torin, Monica Tomasi, Domenico Rubello, and Alberto Mazza
Subjects: Blood Glucose, Male, medicine.medical_specialty, Ubiquinone, Hypercholesterolemia, Diastole, 030204 cardiovascular system & hematology, Diet, Mediterranean, Article, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Nutraceutical, Internal medicine, medicine, Red yeast rice, Humans, Lovastatin, 030212 general & internal medicine, Triglycerides, Aged, Metabolic Syndrome, Pharmacology, Coenzyme Q10, Cholesterol, business.industry, Anticholesteremic Agents, Cholesterol, HDL, Cholesterol, LDL, General Medicine, Middle Aged, medicine.disease, Treatment Outcome, Endocrinology, Blood pressure, chemistry, Hypertension, Dietary Supplements, Female, Analysis of variance, Hydroxymethylglutaryl-CoA Reductase Inhibitors, Metabolic syndrome, business
Abstract: Metabolic syndrome (MetS) is a world-wide epidemic disease with an increased risk of morbidity and mortality. Treatment strategies of MetS include pharmacologic and non-pharmacologic interventions and in this respect a relevant role has been shown for nutraceutical compounds (NCs). The aim of this study was to investigate the efficacy and safety of NCs incorporated with diet and lifestyle management versus diet alone, in lowering blood pressure (BP) values and improving lipid and glucose profile, in a group of hypertensives and hyper-cholesterolemic patients with MetS.104 subjects with MetS (mean age 57.4 ± 8.8 years, 51% males) without history of cardio-vascular (CV) diseases were enrolled in the study. 52 subjects were treated with a once-daily oral formulation of a NCs containing red yeast rice and coenzyme Q10 added to their diet for 2 months and were compared with the 52 patients following a diet program. Differences in BP, serum total cholesterol (TC), low- and high-density-lipoprotein cholesterol (LDLC and HDLC), triglycerides (TG) and glucose values were compared by analysis of variance.A significant reduction of BP, TC, TG, LDLC and glucose levels was observed in both treatment groups. However, a greater reduction of systolic BP (-5.2 vs. -3.0 mmHg), diastolic BP (-4.9 vs. 2.9 mmHg), total cholesterol (-17.2%), LDLC (-21.8%), TG (-16.0%) and serum glucose (-3.4%) was observed in the treatment group relative to the control (p 0.001 for all); HDLC remained unchanged (p = N.S.). Gender difference was not found in either group (p = N.S.).In patients with MetS, NC supplementation was safe, well tolerated and effective in improving clinic BP, lipid and glucose profile.
Published: 2018
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35. Traditional knowledge about plant, animal, and mineral-based remedies to treat cattle, pigs, horses, and other domestic animals in the Mediterranean island of Sardinia

Author: Maria Manunta, Giovanni Antonio Re, Giovanna Piluzza, and Simonetta Maria Bullitta
Subjects: Male, 0106 biological sciences, Mediterranean climate, Health (social science), Swine, Biodiversity, Distribution (economics), 01 natural sciences, Mediterranean ethno-veterinary, Poultry, Animal Diseases, lcsh:Botany, Plant remedies, Socioeconomics, Aged, 80 and over, 2. Zero hunger, Minerals, Traditional therapeutics, food and beverages, Zoo-therapy, Pets, lcsh:Other systems of medicine, Middle Aged, lcsh:QK1-989, Knowledge, Geography, Italy, Animals, Domestic, Female, Livestock, General Agricultural and Biological Sciences, Cultural Studies, Mediterranean Islands, Animals, Humans, Horses, Traditional knowledge, Aged, Plants, Medicinal, business.industry, Research, lcsh:RZ201-999, 0104 chemical sciences, 010404 medicinal & biomolecular chemistry, Complementary and alternative medicine, Domestic animal, Cattle, Medicine, Traditional, Rural area, business, Phytotherapy, 010606 plant biology & botany
Abstract: Background Mediterranean farmers traditionally utilized plants, animals, and minerals sourced locally to treat their animals. Research is needed to understand at what extent such knowledge of domestic animal care still survives and to document such traditions for further developments. Methods We carried out our field study to recover ancient ethno-veterinary practices by means of questionnaires and interviews to farmers in rural areas of the Mediterranean island of Sardinia (Italy). Quantitative indices were used to evaluate the distribution and diversity of the acquired information. Results We report here 98 sources (42 plant taxa, 14 animal-based substances, 15 minerals, and 27 other materials of various origin) emerged from the survey for the care of 41 ailments of cattle, pigs, and horses. Ethno-veterinary treatments, detailed in their formulations and applications, were used against ecto- and endo-parasites, gastrointestinal diseases, heart diseases, viral and bacterial diseases, wounds, sprains, and bruises. Conclusion Our survey can be useful to implement the use of phyto-therapeutics and other remedies of non-herbal origin for diseased animals, and, as elderly farmers held most of the knowledge, it can contribute to the conservation of Mediterranean ethno-veterinary knowledge.
Published: 2018
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36. Genetics of ion homeostasis in Ménière’s Disease

Author: Roberto Albera, Claudia Cassandro, Chiara Lanzani, Paolo Manunta, Lorena Citterio, Simona Delli Carpini, Jan A. Staessen, Roberto Teggi, Laura Zagato, Wen-Yi Yang, Mario Bussi, Teggi, Roberto, Zagato, Laura, Delli Carpini, Simona, Citterio, Lorena, Cassandro, Claudia, Albera, Roberto, Yang, Wen Yi, Staessen, Jan A., Bussi, Mario, Manunta, Paolo, and Lanzani, Chiara
Subjects: Male, ATPase, 0302 clinical medicine, Homeostasis, Genetics, Ionic transporters, Ménière’s Disease, Na+-Ca++ exchanger 1 (SLC8A1), Salt inducible kinase 1 (SIK1), Otorhinolaryngology2734 Pathology and Forensic Medicine, 030223 otorhinolaryngology, education.field_of_study, biology, General Medicine, Middle Aged, Vertigo, Female, Case-Control Studie, Human, Adult, medicine.medical_specialty, Genotype, European Continental Ancestry Group, Population, Single-nucleotide polymorphism, Polymorphism, Single Nucleotide, White People, 03 medical and health sciences, Genetic, Internal medicine, Homeostasi, medicine, Humans, Ion, education, Gene, Meniere Disease, Ions, business.industry, medicine.disease, Ionic transporter, Genotype frequency, Endocrinology, Ion homeostasis, Otorhinolaryngology, Migraine, Case-Control Studies, biology.protein, business, 030217 neurology & neurosurgery, Meniere's disease
Abstract: Aim of this work was to assess the role of polymorphisms belonging to genes involved in the regulation of ionic homeostasis in Caucasian patients with Ménière Disease (MD). We recruited 155 patients with definite Ménière Disease and 186 controls (Control Group 1) without a lifetime history of vertigo, overlapping with patients for age and rate of hypertension. We validated the positive results on 413 Caucasian subjects selected from a European general population (Control Group 2). The clinical history for migraine and hypertension was collected; genomic DNA was characterized for a panel of 33 SNPs encoding proteins involved in ionic transport. We found a higher rate of migraineurs in MD subjects compared to Group 1 (46.8 vs 15.5%, p = 0.00005). Four SNPs displayed differences in MD patients compared to Group 1 controls: rs3746951 and rs2838301 in SIK1 gene, rs434082 and rs487119 in SLC8A1; the p values of Chi-squared test for genotype frequencies are 0.009, 0.023, 0.009 and 0.048, respectively. SLC8A1 gene encodes for Na(+)-Ca(++) exchanger, while SIK1 gene encodes for Salt Inducible Kinase 1, an enzyme associated with Na(+)-K(+) ATPase function. The validation with Control Group 2 displayed that only rs3746951 and rs487119 are strongly associated to MD (p = 0.001 and p = 0.0004, respectively). These data support the hypothesis that a genetically induced dysfunction of ionic transport may act as a predisposing factors to develop MD. ispartof: European Archives of Oto-Rhino-Laryngology vol:274 issue:2 pages:757-763 ispartof: location:Germany status: published
Published: 2016
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37. Bowel Dysfunction Related to Spina Bifida: Keep It Simple

Author: Guillaume Bouguen, Charlène Brochard, H. Menard, Laurent Siproudhis, Michel Neunlist, Andrea Manunta, Alain Ropert, Anne Dariel, Benoit Peyronnet, CHU Pontchaillou [Rennes], Institut des Maladies de l'Appareil Digestif, Université de Nantes (UN), Centre d'Investigation Clinique [Rennes] (CIC), Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Hôpital Pontchaillou-Institut National de la Santé et de la Recherche Médicale (INSERM), Foie, métabolismes et cancer, Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), Université de Rennes (UR)-Hôpital Pontchaillou-Institut National de la Santé et de la Recherche Médicale (INSERM), The Enteric Nervous System in gut and brain disorders [U1235] (TENS), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Nantes - UFR de Médecine et des Techniques Médicales (UFR MEDECINE), Université de Nantes (UN)-Université de Nantes (UN), and Université de Rennes (UR)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique )
Subjects: Adult, Male, congenital, hereditary, and neonatal diseases and abnormalities, Pediatrics, medicine.medical_specialty, Constipation, [SDV]Life Sciences [q-bio], Population, 030232 urology & nephrology, complication, Urinary incontinence, Severity of Illness Index, 03 medical and health sciences, 0302 clinical medicine, Neurogenic Bowel, Risk Factors, Severity of illness, Prevalence, medicine, Humans, Fecal incontinence, human, Prospective Studies, education, Prospective cohort study, Spinal Dysraphism, education.field_of_study, Spina bifida, business.industry, Gastroenterology, General Medicine, medicine.disease, 3. Good health, Intestinal Diseases, risk factor, Female, 030211 gastroenterology & hepatology, France, medicine.symptom, business, Fecal Incontinence, prospective study
Abstract: International audience; BACKGROUND: Although care of urological disorders in spina bifida is well established, there is yet no agreement on a standardized approach to bowel dysfunction in this population.OBJECTIVE: The purpose of this study was to assess bowel dysfunction using validated instruments and the risk factors in adults with spina bifida.DESIGN: A multidisciplinary team prospectively collected patient data, focusing on anorectal and urological symptoms.SETTINGS: The study was conducted with data from a French referral center for spina bifida.PATIENTS: A total of 228 adults with spina bifida (sex ratio men:women, 92 (40%):136 (60%)) with a median age of 34.7 years (range, 26.8-44.7 y) were assessed.MAIN OUTCOMES MEASURES: Factors associated with severe fecal incontinence (Cleveland Clinic Incontinence Score ≥9) and severe bowel dysfunction (Neurogenic Bowel Dysfunction score ≥14) were assessed in a multivariate analysis model.RESULTS: The prevalence rates of severe fecal incontinence and severe bowel dysfunction were 60% (130/217) and 42% (71/168). Bowel dysfunction was the second most common major concern of patients after lower urinary tract dysfunction. Male sex, obesity, urinary incontinence, and a Knowles-Eccersley-Scott symptom constipation score ≥10 were independently associated with severe fecal incontinence. Patients with soft stools had significantly less severe bowel dysfunction. Neither neurologic level nor other neurologic features of spina bifida were associated with severe fecal incontinence or severe bowel dysfunction.LIMITATIONS: The recruitment of patients with spina bifida through a national referral center might have resulted in selection bias, and some data were missing especially regarding BMI and Neurogenic Bowel Dysfunction score (21% and 26% of missing data).CONCLUSIONS: The prevalence rates of severe fecal incontinence and severe bowel dysfunction in adults with spina bifida were high and were adequately perceived by the patients. The present study emphasized the association of bowel dysfunction and fecal incontinence with obesity, urologic disorders, and stool consistency rather than neurologic features. See Video Abstract at http://links.lww.com/DCR/A394.
Published: 2017
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38. Fecal incontinence in patients with spina bifida: The target is the rectum

Author: Guillaume Bouguen, Laurent Siproudhis, Alain Ropert, Andrea Manunta, Michel Neunlist, Charlène Brochard, H. Menard, Benoit Peyronnet, Service des Maladies de l'Appareil Digestif, Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Hôpital Pontchaillou-CHU Pontchaillou [Rennes], Centre d'Investigation Clinique [Rennes] (CIC), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Hôpital Pontchaillou-Institut National de la Santé et de la Recherche Médicale (INSERM), CHU Pontchaillou [Rennes], Service d'urologie [Rennes] = Urology [Rennes], Hôpital Pontchaillou-CHU Pontchaillou [Rennes], U1235, Neuropathies du système nerveux entérique et pathologies digestives (TENS), Institut National de la Santé et de la Recherche Médicale (INSERM), Nutrition, Métabolismes et Cancer (NuMeCan), Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES), Service des Maladies de l'Appareil Digestif [CHU Rennes], Université de Rennes (UR)-Hôpital Pontchaillou-Institut National de la Santé et de la Recherche Médicale (INSERM), The Enteric Nervous System in gut and brain disorders [U1235] (TENS), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Nantes - UFR de Médecine et des Techniques Médicales (UFR MEDECINE), Université de Nantes (UN)-Université de Nantes (UN), and Institut National de la Recherche Agronomique (INRA)-Université de Rennes (UR)-Institut National de la Santé et de la Recherche Médicale (INSERM)
Subjects: Adult, Male, medicine.medical_specialty, Multivariate analysis, Manometry, [SDV]Life Sciences [q-bio], Urology, Sensation, 030232 urology & nephrology, Prevalence, Anal Canal, Rectum, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, Humans, Medicine, Fecal incontinence, Spinal Dysraphism, Gynecology, rectal sensitivity, business.industry, Spina bifida, Anorectal manometry, Middle Aged, Anal canal, medicine.disease, spina bifida, fecal incontinence, medicine.anatomical_structure, Latex allergy, Female, 030211 gastroenterology & hepatology, Neurology (clinical), medicine.symptom, business
Abstract: International audience; Aims - The prevalence rate of severe fecal incontinence (FI) in adults with spina bifida (SB) is high. The physiological basis of FI in SB has not been clearly established, which contributes to inadequate care. The aim was to better characterize a large cohort of adults with special consideration of anorectal physiology.Methods - A multidisciplinary team from a French referral centre for SB prospectively collected data on patients who had an anorectal manometry. Factors associated with severe FI (Cleveland clinical incontinence score ≥ 9) were assessed in a multivariate analysis model.Results - A total of 132 adults with SB (sex ratio M/F: 55 [41.7%]/77 [58.3%]; mean age of 38.2 [11.6] years old) were assessed. Among these patients, 83/132 (62.9%) suffered from severe FI. Rectal perception was not evaluable among 17 patients who had a latex allergy. Overall, 29/115 (25.2%) had maximal tolerable volume (MTV) > 330 mL or no sensation. The absence of anal canal sensitivity, MVT > 330 mL and the amplitude of the recto-anal inhibitory reflex (RAIR) >75% after a rectal isovolumic inflation of 50 mL were significantly associated with severe FI in the multivariate analysis model. Neither neurological level nor other neurological features were associated with severe FI.Conclusions - This study showed that FI in patients with SB is mainly associated with rectal abnormalities. This should be taken into consideration to improve incontinence management of patients with SB.
Published: 2017
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39. Urologic Disorders are Still the Leading Cause of In-hospital Death in Patients With Spina Bifida

Author: Jacques Kerdraon, B. Peyronnet, F. Gao, Quentin Alimi, Camille Olivari, Xavier Gamé, Emmanuel Oger, Laurent Siproudhis, Sahar Bayat, Lucie-Marie Scailteux, Zine-Eddine Khene, Juliette Hascoet, Charlène Brochard, Guillaume Bouguen, C. Voiry, Frédéric Balusson, Andrea Manunta, M. Jezequel, CHU Pontchaillou [Rennes], Nutrition, Métabolismes et Cancer (NuMeCan), Université de Rennes (UR)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), Centre d'Investigation Clinique [Rennes] (CIC), Université de Rennes (UR)-Hôpital Pontchaillou-Institut National de la Santé et de la Recherche Médicale (INSERM), École des Hautes Études en Santé Publique [EHESP] (EHESP), Recherche en Pharmaco-épidémiologie et Recours aux Soins (REPERES), Université de Rennes (UR)-École des Hautes Études en Santé Publique [EHESP] (EHESP), Département Méthodes quantitatives en santé publique (METIS), Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), Jonchère, Laurent, Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Hôpital Pontchaillou-Institut National de la Santé et de la Recherche Médicale (INSERM), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-École des Hautes Études en Santé Publique [EHESP] (EHESP), and CHU Toulouse [Toulouse]
Subjects: Adult, Male, Urologic Diseases, congenital, hereditary, and neonatal diseases and abnormalities, Pediatrics, medicine.medical_specialty, Cross-sectional study, Epidemiology, Urology, Bladder, [SDV]Life Sciences [q-bio], Population, 030232 urology & nephrology, MEDLINE, [SDV.MHEP.UN]Life Sciences [q-bio]/Human health and pathology/Urology and Nephrology, 03 medical and health sciences, 0302 clinical medicine, Cause of Death, Medicine, Humans, Urinary, Hospital Mortality, Longitudinal Studies, Mortality, education, Spina bifida, Spinal Dysraphism, Cause of death, education.field_of_study, business.industry, medicine.disease, Urological disorder, [SDV.MHEP.UN] Life Sciences [q-bio]/Human health and pathology/Urology and Nephrology, nervous system diseases, 3. Good health, Hydrocephalus, Death, [SDV] Life Sciences [q-bio], Hospitalization, Cross-Sectional Studies, 030220 oncology & carcinogenesis, Needs assessment, Observational study, Female, France, business, Needs Assessment
Abstract: International audience; Objective - To assess and analyze the contemporary causes of in-hospital deaths of spina bifida patients. Methods - It was a cross-sectional observational study of the longitudinal national cohort of all patients hospitalized in French public and private hospitals. We analyzed the data from the French hospital discharge database (Programme de Médicalisation des Systemes d'Information, PMSI) from 2009 to 2014. The number of in-hospital deaths was extracted using the combination of the ICD-10 codes "Q05" or "Q760" and a discharge code = 9. Results - There were 138 in-hospital deaths of spina bifida patients over the 6-year study period. The median age at death was 41 years (IQR: 25-52). The median age at death was significantly lower in patients with vs without hydrocephalus (26.6 vs 45.5 years; P
Published: 2019
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40. AMS‐800 Artificial urinary sphincter in female patients with stress urinary incontinence: A systematic review

Author: Sascha Ahyai, Grégoire Capon, David Waltregny, Xavier Gamé, Victor W. Nitti, Benjamin M. Brucker, Rose Khavari, Marta Allué, Jean Nicolas Cornu, Andrea Manunta, Eabhann O’Connor, Luis Castro-Sader, Benoit Peyronnet, Jason Gilleran, Juliette Hascoet, Georges Fournier, Eric Chung, Daniel S. Elliott, Service d'urologie [Rennes], Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Hôpital Pontchaillou-CHU Pontchaillou [Rennes], Department of Urology, Galway University Hospital, Galway, Ireland., Department of Urology, Houston Methodist Hospital, Houston, Texas., service d'urologie [CHU Bordeaux], CHU Bordeaux [Bordeaux], CHU Pontchaillou [Rennes], Department of Urology, Vall d'Hebron University Hospital, Barcelona, Spain., Department of Urology, New York University, New York, Service d'Urologie - Transplantation Rénale - Andrologie, CHU Toulouse [Toulouse]-Hôpital de Rangueil, CHU Toulouse [Toulouse], Department of Urology, William Beaumont Hospital, Royal Oak, Michigan., Service d'urologie [Rouen], CHU Rouen, Normandie Université (NU)-Normandie Université (NU)-Université de Rouen Normandie (UNIROUEN), Normandie Université (NU), Nutrition, inflammation et dysfonctionnement de l'axe intestin-cerveau (ADEN), Université de Rouen Normandie (UNIROUEN), Normandie Université (NU)-Normandie Université (NU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Institute for Research and Innovation in Biomedicine (IRIB), Normandie Université (NU)-Normandie Université (NU)-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM), UNIROUEN - UFR Santé (UNIROUEN UFR Santé), Normandie Université (NU)-Normandie Université (NU), Department of Urology, University Hospital of Liege, Liege, Belgium., Department of Urology, University Medical Center Göttingen, Göttingen, Germany., Department of Urology, The University of Queensland, Brisbane, Australia., Department of Urology, Mayo Clinic, Rochester, Minnesota., CHRU de Brest, service de chirurgie urologique et de la transplantation reinale (CHU - BREST - Urologie), Centre Hospitalier Régional Universitaire de Brest (CHRU Brest), New York University Langone Medical Center (NYU Langone Medical Center), NYU System (NYU), Service d'urologie [Rennes] = Urology [Rennes], and Hôpital Pontchaillou-CHU Pontchaillou [Rennes]
Subjects: medicine.medical_specialty, Urology, Urinary Incontinence, Stress, 030232 urology & nephrology, MEDLINE, Urinary incontinence, [SDV.MHEP.UN]Life Sciences [q-bio]/Human health and pathology/Urology and Nephrology, Artificial urinary sphincter, 03 medical and health sciences, High morbidity, 0302 clinical medicine, Female patient, medicine, Humans, ComputingMilieux_MISCELLANEOUS, 030219 obstetrics & reproductive medicine, business.industry, Urethral sphincter, Vaginal injury, Surgery, Neck of urinary bladder, Urinary Sphincter, Artificial, Urologic Surgical Procedures, Female, Neurology (clinical), medicine.symptom, business
Abstract: Aims: To perform a systematic review of studies reporting the outcomes of AMS-800 artificial urinary sphincter (AUS) implantation in female patients with stress urinary incontinence (SUI) resulting from intrinsic sphincter deficiency (ISD). Methods: A systematic literature search of the Medline and Embase databases was performed in June 2018 in accordance with the PRISMA statement. No time limit was used. The protocol was registered in PROSPERO (CRD42018099612). Study selection and data extraction were performed by two independent reviewers. Results: Of 886 records screened, 17 were included. All were retrospective or prospective non-comparative case series. One study reported on vaginal AUS implantation, 11 on open AUS implantation, two on laparoscopic AUS implantation, two on robot-assisted AUS implantation and one compared open and robot-assisted implantations. The vast majority of patients had undergone at least one anti-incontinence surgical procedure prior to AUS implantation (69.1-100%). The intraoperative bladder neck injury rates ranged from 0% to 43.8% and the intraoperative vaginal injury rates ranged from 0 to 25%. After mean follow-up periods ranging from 5 to 204 months, the complete continence rates ranged from 61.1% to 100%. The rates of explantation, erosion and mechanical failure varied from 0% to 45.3%, 0% to 22.2% and 0% to 44.1%, respectively. Conclusions: AMS-800 AUS can provide excellent functional outcomes in female patients with SUI resulting from ISD but at the cost of a relatively high morbidity. High level of evidence studies are needed to help better define the role of AUS in the female SUI armamentarium.
Published: 2019
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41. [Psychological Assessment of a sample of women with ADPKD: quality of life, body image, anxiety and depression]

Author: Giulia Bruna, Delli Zotti, Eleonora, Sangiovanni, Elena, Brioni, Maria Monica, Ratti, Maria Teresa, Sciarrone Aliprandi, Donatella, Spotti, Paolo, Manunta, and Lucio, Sarno
Subjects: Adult, Depression, Hypertension, Body Image, Quality of Life, Humans, Female, Anxiety, Middle Aged, Polycystic Kidney, Autosomal Dominant
Abstract: The Autosomal Dominant Polycystic Kidney Disease (ADPKD) is a chronic renal disease that has not yet been the subject of psychological research. There are only a few studies related to the consequences and complications of this pathology on female patients, although women affected by this disease present serious problems.The purpose of this study is to perform a psychological assessment (quality of life, anxiety, depression, body image) on a sample of 37 women with ADPKD.The assessment is based on ad hoc social and personal record, KDQOL-SF (to evaluate health-related quality of life), HADS (for anxiety and depression) and BUT (for perceived body image). This assessment is administrated in a specific outpatient clinic.Results show that kidney disease has a negative impact on health-related quality of life. Concerns about body image are linked to anxious and depressive symptomatology: an increase in these concerns is related to a worsening of anxiety and depressive symptoms in patients. Moreover, a higher psychological malaise emerges in hypertensive ADPKD patients, in terms of mood and quality of life, compared to those without this concomitant pathology. Finally, it is important to note that social support, real or perceived, is of paramount importance in maintaining psychological well-being.The psychological evaluation of ADPKD patients can be used in clinical practice as a supplemental model in multidisciplinary Nephrology team.
Published: 2019

42. Long-Term Discontinuation of Botulinum Toxin A Intradetrusor Injections for Neurogenic Detrusor Overactivity: A Multicenter Study

Author: Annabelle Auble, Andrea Manunta, Xavier Gamé, Evelyne Castel-Lacanal, Benoit Peyronnet, Juliette Hascoet, Jean-Nicolas Cornu, Maximilien Baron, Thomas Prudhomme, Gabriel Miget, Sabine Le Doze, Service d'urologie [Rouen], CHU Rouen, Normandie Université (NU)-Normandie Université (NU)-Université de Rouen Normandie (UNIROUEN), Normandie Université (NU), Service d'urologie [Rennes], Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Hôpital Pontchaillou-CHU Pontchaillou [Rennes], Service de Médecine Physique et Réadaptation, CHU Toulouse [Toulouse]-Hôpital de Rangueil, CHU Toulouse [Toulouse], Département de Médecine Physique et Réadaptation Rouen, Departement de Médecine Physique et Rehabilitation Caen, Service d'Urologie [Toulouse], Nutrition, inflammation et dysfonctionnement de l'axe intestin-cerveau (ADEN), Université de Rouen Normandie (UNIROUEN), Normandie Université (NU)-Normandie Université (NU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Institute for Research and Innovation in Biomedicine (IRIB), Normandie Université (NU)-Normandie Université (NU)-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM), UNIROUEN - UFR Santé (UNIROUEN UFR Santé), Normandie Université (NU)-Normandie Université (NU), Service d'Urologie - Transplantation Rénale - Andrologie, Service d'urologie [Rennes] = Urology [Rennes], and Hôpital Pontchaillou-CHU Pontchaillou [Rennes]
Subjects: Adult, Male, Patient Dropouts, Time Factors, Urology, 030232 urology & nephrology, Urinary incontinence, [SDV.MHEP.UN]Life Sciences [q-bio]/Human health and pathology/Urology and Nephrology, Botulinum toxin a, 03 medical and health sciences, 0302 clinical medicine, medicine, Humans, Botulinum Toxins, Type A, Urinary Bladder, Neurogenic, Spinal cord injury, ComputingMilieux_MISCELLANEOUS, Retrospective Studies, Urinary bladder, business.industry, Spina bifida, Urinary Bladder, Overactive, Multiple sclerosis, medicine.disease, Botulinum toxin, 3. Good health, Discontinuation, medicine.anatomical_structure, Administration, Intravesical, Neuromuscular Agents, Anesthesia, Female, medicine.symptom, business, medicine.drug, Follow-Up Studies
Abstract: Data are lacking on long-term outcomes of intradetrusor injections of botulinum toxin A for neurogenic detrusor overactivity. The aim of this study was to assess the outcomes of intradetrusor injections of botulinum toxin A for neurogenic detrusor overactivity after more than 10 years of followup.We retrospectively reviewed the charts of all consecutive neurological patients who had received onabotulinumtoxin A or abobotulinumtoxin A intradetrusor injections for neurogenic detrusor overactivity between January 2002 and November 2007 at a total of 3 academic centers. The primary outcome measure was the 10-year discontinuation rate. Other outcomes of interest were failure, reasons for discontinuation and subsequent treatments of neurogenic detrusor overactivity. Discontinuation-free and failure-free survival was estimated by Kaplan-Meier analyses.A total of 140 patients were included in study. The 10-year discontinuation-free and failure-free survival rates were 49.1% and 73%, respectively. The most common reason for discontinuation was failure in 43.7% of cases, which was primary and secondary in 17.2% and 26.5%, respectively. Secondary failure occurred after a median of 8 injections and a median of 80.1 months from the first injection. Other reasons for discontinuation were patient decision in 28.1% of patients, nonbotulinum toxin A related improvement of urinary incontinence in 14.1%, neurological condition progression in 12.5% and an adverse event in 1.6%. Discontinuation-free survival was significantly poorer in patients with spina bifida than in patients with multiple sclerosis or spinal cord injury (p = 0.02).More than half of the patients with neurogenic detrusor overactivity discontinued intradetrusor botulinum toxin A within the first 10 years after the initial injection. Patients with spina bifida are at high risk for discontinuation.
Published: 2019
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43. Impact of routine imaging in the diagnosis of recurrence for patients with localized and locally advanced renal tumor treated with nephrectomy

Author: Baptiste Gires, Karim Bensalah, Pierre Bigot, Quentin Alimi, Benoit Peyronnet, Andrea Manunta, Gregory Verhoest, Romain Mathieu, Zine-Eddine Khene, CHU Pontchaillou [Rennes], Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM), Institut de recherche en santé, environnement et travail (Irset), Université d'Angers (UA)-Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-École des Hautes Études en Santé Publique [EHESP] (EHESP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), and Université d'Angers (UA)-Université de Rennes (UR)-École des Hautes Études en Santé Publique [EHESP] (EHESP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique )
Subjects: Male, Nephrology, medicine.medical_specialty, Survival, Abdominal ultrasound, Urology, medicine.medical_treatment, [SDV]Life Sciences [q-bio], 030232 urology & nephrology, Locally advanced, Renal tumor, Nephrectomy, Academic institution, 03 medical and health sciences, 0302 clinical medicine, Recurrence, Internal medicine, Cox proportional hazards regression, medicine, Humans, Staging system, Tomography, Aged, Neoplasm Staging, Retrospective Studies, business.industry, Follow-up, Middle Aged, Prognosis, Kidney Neoplasms, 3. Good health, Population Surveillance, 030220 oncology & carcinogenesis, Female, Radiology, Neoplasm Recurrence, Local, business
Abstract: International audience; Objective - Modalities of surveillance to detect recurrence after nephrectomy for localized or locally advanced renal tumor are not standardized. The aim was to assess the impact of surveillance scheme on oncological outcomes. Methods - Patients treated for localized or locally advanced renal tumor with total or partial nephrectomy between 2006 and 2010 in an academic institution were included retrospectively. According to the University of California Los Angeles Integrated Staging System (UISS) protocol, follow-up was considered adequate or not. Symptoms, location and number of lesions at recurrence diagnosis were collected. Recurrence-free, cancer-specific and overall survivals were estimated using the Kaplan-Meier method and compared with the log-rank test. Cox proportional hazards regression models were calculated to identify prognostic factors. Results - A total of 267 patients were included. Median follow-up was 72 months. Recurrence rate was 23.2% (62/267 patients). Recurrences were local (16%), single metastatic (23%), oligo-metastatic (15%) or multi-metastatic (46%). 72.6% of the recurrences occurred within the 3 years after surgery. No recurrence was diagnosed by chest X-ray or abdominal ultrasound. One hundred and twenty-one patients had inadequate follow-up. They had similar recurrence-free survival, cancer-specific survival and overall survival as patients with adequate follow-up. In multivariable analysis, the presence of multi-metastatic lesions was an independent prognostic factor of worse cancer-specific mortality after recurrence diagnosis (HR = 10.15, 95% CI: 2.29-44.82, p = 0.002). Conclusion - Role of chest X-ray and abdominal ultrasound for the detection of recurrences is limited. Rigorous follow-up according to the UISS protocol does not improve oncological outcomes. Follow-up schedules with less frequent imaging should be discussed.
Published: 2019
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44. Defecation disorders in Spina Bifida Realistic goals and best therapeutic approaches

Author: Raphael Olivier, M. Jezequel, Juliette Hascoet, Benoit Peyronnet, Quentin Alimi, Alain Ropert, Andrea Manunta, Laurent Siproudhis, Charlène Brochard, Guillaume Bouguen, Michel Neunlist, CHU Pontchaillou [Rennes], The Enteric Nervous System in gut and brain disorders [U1235] (TENS), Université de Nantes - UFR de Médecine et des Techniques Médicales (UFR MEDECINE), Université de Nantes (UN)-Université de Nantes (UN)-Institut National de la Santé et de la Recherche Médicale (INSERM), U1235, Neuropathies du système nerveux entérique et pathologies digestives (TENS), Institut National de la Santé et de la Recherche Médicale (INSERM), Nutrition, Métabolismes et Cancer (NuMeCan), Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Nantes - UFR de Médecine et des Techniques Médicales (UFR MEDECINE), Université de Nantes (UN)-Université de Nantes (UN), and Institut National de la Recherche Agronomique (INRA)-Université de Rennes (UR)-Institut National de la Santé et de la Recherche Médicale (INSERM)
Subjects: Adult, Male, Spina Bifida, Pediatrics, medicine.medical_specialty, Adolescent, Urology, [SDV]Life Sciences [q-bio], 030232 urology & nephrology, Transanal irrigation, law.invention, 03 medical and health sciences, Therapeutic approach, Young Adult, 0302 clinical medicine, Defecation disorders, Randomized controlled trial, law, Medicine, Fecal incontinence, Fecal continence, Humans, neurological disease, Defecation, Spinal Dysraphism, transanal irrigation, 030219 obstetrics & reproductive medicine, business.industry, Spina bifida, Disease Management, Middle Aged, medicine.disease, 3. Good health, fecal incontinence, therapeutic, Female, Neurology (clinical), medicine.symptom, business, Goals
Abstract: International audience; Aims - Spina Bifida (SB) is a rare congenital condition that frequently impairs the neurological control of both fecal continence and defecation. Several therapeutic strategies have been proposed but impact assessment is lacking. Our objectives were to quantify the symptomatic improvement and to determine the optimal strategy in this rare condition where randomized controlled trials are difficult to conduct. Methods - Data were extracted from a prospective database. The present analysis focused on patients having undergone at least two gastroenterological assessments. A standardized therapeutic approach was used from the first visit. Improvement was quantified by the variation of quantified symptomatic scores. Results - The data of of 57 adults with SB (gender F/M: 30/27 [52.6/47.4%]; mean age: 33.8 [18.5] years) were extracted. After a mean follow-up of 46 months, 23/57 patients (40.4%) had at least improvement of one point of the Cleveland Clinic Incontinence score (CCIS); 13/57 (22.8%) reported a significant improvement of continence (delta score >50%). Five of the twelve patients (41.6%) with CCIS
Published: 2019
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45. Urinary TIMP-2 and MMP-2 are significantly associated with poor bladder compliance in adult patients with spina bifida

Author: Zine-Eddine Khene, Anne Corlu, C. Richard, Jacques Kerdraon, Laurent Siproudhis, Xavier Gamé, Nelly Senal, M. Jezequel, Guillaume Bouguen, Charlène Brochard, Claude Bendavid, Florian Naudet, Quentin Alimi, B. Peyronnet, Andrea Manunta, Juliette Hascoet, Bruno Clément, CHU Pontchaillou [Rennes], Centre d'Investigation Clinique [Rennes] (CIC), Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Hôpital Pontchaillou-Institut National de la Santé et de la Recherche Médicale (INSERM), Nutrition, Métabolismes et Cancer (NuMeCan), Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES), Centre Mutualiste de Rééducation et de Réadaptation Fonctionnelles de Kerpape, CHU Toulouse [Toulouse], Université de Rennes (UR)-Hôpital Pontchaillou-Institut National de la Santé et de la Recherche Médicale (INSERM), Institut National de la Recherche Agronomique (INRA)-Université de Rennes (UR)-Institut National de la Santé et de la Recherche Médicale (INSERM), and Centre Hospitalier Universitaire de Toulouse (CHU Toulouse)
Subjects: Male, [SDV]Life Sciences [q-bio], 030232 urology & nephrology, Hydronephrosis, Urine, Kidney, chemistry.chemical_compound, 0302 clinical medicine, Nerve Growth Factor, Medicine, Prospective Studies, Spinal Dysraphism, ComputingMilieux_MISCELLANEOUS, Upper urinary tract, Urinary bladder, medicine.diagnostic_test, Area under the curve, Middle Aged, uroydnamics, spina bifida, medicine.anatomical_structure, 030220 oncology & carcinogenesis, Matrix Metalloproteinase 2, Urodynamic testing, Female, urinary bladder, Adult, medicine.medical_specialty, Urology, Urinary system, neurogenic, compliance, Dinoprostone, Transforming Growth Factor beta1, Young Adult, 03 medical and health sciences, Humans, Urinary Bladder, Neurogenic, Tissue Inhibitor of Metalloproteinase-2, Creatinine, business.industry, Spina bifida, Brain-Derived Neurotrophic Factor, medicine.disease, Urodynamics, chemistry, Neurology (clinical), Atrophy, business, Biomarkers
Abstract: Aims To assess the predictive values of six urinary markers (nerve growth factor [NGF], brain-derived neurotrophic factor [BDNF], matrix metalloproteinase 2 [MMP-2], tissue inhibitor metalloproteinase 2 [TIMP-2], transformation growth factor β-1 [TGF-B1], and prostaglandin 2 [PGE2]) for adverse urodynamic features and for upper urinary tract damage in adult patients with spina bifida. Materials and methods A single-center prospective trial was conducted from March 2015 to March 2017 including all consecutive adult patients with spina bifida seen for urodynamic testing. The urine was collected and stored at -80°C. A urodynamic and an upper urinary tract were systematically performed. At the end of the inclusion period, urines were defrosted and urinary nerve growth factor, BDNF, TIMP-2, and TGF-B1 were assessed using validated ELISA kits. The urinary markers levels were adjusted on the urinary creatinine level. Urinary MMP-2 levels were assessed by zymography. Results Fourty patients were included. Only TIMP-2 and MMP-2 were significantly associated with poor bladder compliance (P = .043 and P = .039, respectively). TIMP-2 was also the only urinary marker significantly associated with upper urinary tract damage on imaging (OR = 19.81; P = .02). Of all urodynamic parameters, bladder compliance and maximum detrusor pressure were the only ones associated with upper urinary tract damage on imaging (P = .01 and P = .02), The diagnostic performances of urinary TIMP-2 for upper urinary tract damage were slightly superior to PdetMax and bladder compliance with an area under the curve of 0.72. Conclusion Urinary TIMP-2 and MMP-2 were significantly associated with poor bladder compliance and urinary TIMP-2 was significantly associated with upper urinary tract damage. These findings support a pathophysiological role of extracellular matrix remodeling in poor bladder compliance of adult patients with spina bifida.
Published: 2019
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46. Contrast-enhanced CT texture parameters as predictive markers of high-risk urodynamic features in adult patients with spina bifida

Author: Anna Goujon, Quentin Alimi, B. Peyronnet, C. Richard, Andrea Manunta, Juliette Hascoet, A. Gasmi, Guillaume Bouguen, Zine-Eddine Khene, M. Jezequel, Romain Mathieu, Jacques Kerdraon, Charlène Brochard, Xavier Gamé, L. Siprouhdis, CHU Pontchaillou [Rennes], Centre d'Investigation Clinique [Rennes] (CIC), Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Hôpital Pontchaillou-Institut National de la Santé et de la Recherche Médicale (INSERM), Nutrition, Métabolismes et Cancer (NuMeCan), Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES), CHU Toulouse [Toulouse], Jonchère, Laurent, Université de Rennes (UR)-Hôpital Pontchaillou-Institut National de la Santé et de la Recherche Médicale (INSERM), Institut National de la Recherche Agronomique (INRA)-Université de Rennes (UR)-Institut National de la Santé et de la Recherche Médicale (INSERM), and Centre Hospitalier Universitaire de Toulouse (CHU Toulouse)
Subjects: Male, Multivariate analysis, Enhanced ct, [SDV]Life Sciences [q-bio], 030232 urology & nephrology, lcsh:RC870-923, Logistic regression, 0302 clinical medicine, Contrast (vision), Prospective Studies, Spinal Dysraphism, Computed tomography, texture analysis, media_common, Urinary bladder, medicine.diagnostic_test, lcsh:Neoplasms. Tumors. Oncology. Including cancer and carcinogens, [SDV] Life Sciences [q-bio], Radiographic Image Enhancement, spina bifida, medicine.anatomical_structure, 030220 oncology & carcinogenesis, Kurtosis, Urodynamic testing, Female, Radiology, France, urinary bladder, Adult, medicine.medical_specialty, media_common.quotation_subject, Urology, neurogenic, Texture (geology), lcsh:RC254-282, 03 medical and health sciences, medicine, Humans, urodynamic, Adult patients, business.industry, Spina bifida, Urinary Bladder, Overactive, Odds ratio, lcsh:Diseases of the genitourinary system. Urology, medicine.disease, Confidence interval, Urodynamics, business, Tomography, X-Ray Computed
Abstract: International audience; OBJECTIVE : To investigate computed tomography (CT) texture analysis of the bladder wall as a predictor of urodynamics findings in adult patient with spina bifida.METHODS : A single-center prospective trial was conducted from March 2015 to March 2017 including all consecutive adult spina bifida patients seen for urodynamic testing. A contrast-enhanced abdominal CT was systematically performed in all patients during the same visit. Texture features of the bladder wall related to the gray-level histogram and gray-level co-occurrence were evaluated on CT images. Multivariate analysis was performed to identify independent predictors of poor bladder compliance and detrusor overactivity among clinical and texture parameters.RESULTS : Fourty patients were included. The Lasso penalized logistic regression analysis identified 2 texture parameters as potential predictors of poor bladder compliance: Skewness (coefficient weight, -1.81) and S.1.1.SumVarnc (coefficient weight, -3.52). Multivariate logistic regression analysis confirmed skewness (odds ratio [confidence interval 95%] = 0.40 [0.14, 0.97], P = .04) as an independent predictor of poor bladder compliance. The Lasso penalized logistic regression analysis identified one texture parameters as potential predictor of detrusor overactivity: Kurtosis (coefficient weight, -3.52), which was confirmed in multivariate logistic regression analysis (odds ratio [confidence interval 95%] = 1.12 [1.01, 1.55], P = .02).CONCLUSION : Our findings demonstrate that CT texture analysis of the bladder wall might be an interesting tool to identify spina bifida patients with high risk urodynamic features.
Published: 2019
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47. Urinary neutrophil gelatinase-associated lipocalin time course during cardiac surgery

Author: Paolo Manunta, Roberta Meroni, Elena Bignami, Alberto Zangrillo, Ambra Licia Di Prima, Elena Frati, Marco Simonini, Bignami, E, Frati, E, Meroni, R, Simonini, M, Di Prima, Al, Manunta, Paolo, and Zangrillo, Alberto
Subjects: Male, lcsh:Diseases of the circulatory (Cardiovascular) system, law.invention, Airway, dexmedetomidine, radiographic assessment, Postoperative pain, Postoperative Complications, law, Prospective Studies, sternotomy, Hemodilution, Cardiopulmonary Bypass, Neutrophil gelatinase-associated lipocalin, Acute kidney injury, General Medicine, Middle Aged, Cardiac surgery, Atrial fibrillation, Diastolic dysfunction, Diastolic function, Postoperative, Lipocalins, Anesthesia, Mitral Valve, Biomarker (medicine), Original Article, Female, Cardiology and Cardiovascular Medicine, Adult, Risk, medicine.medical_specialty, Urinary system, Cardiac resynchronization therapy, coronary artery bypass, heart failure, lcsh:RD78.3-87.3, Lipocalin-2, Proto-Oncogene Proteins, Cardiopulmonary bypass, medicine, Humans, Cardiac Surgical Procedures, Aged, Aprotinin, Bleeding, Paediatric open-heart surgery, Tranexamic acid, business.industry, Perioperative, medicine.disease, Surgery, Anesthesiology and Pain Medicine, lcsh:Anesthesiology, lcsh:RC666-701, Time course, Observational study, presternal bupivacaine infusion, business, Biomarkers, Acute-Phase Proteins
Abstract: Background: NGAL is one of the most promising AKI biomarkers in cardiac surgery. However, the best timing to dose it and the reference values are still matter of discussion. Aim of the Study: We performed a uNGAL perioperative time course, to better understand its perioperative kinetics and its role in AKI diagnosis. Setting of the Study: San Raffaele University Hospital, cardiac surgery department. Material and Methods: We enrolled in this prospective observational study 19 patients undergoing cardiac surgery with cardiopulmonary bypass (CPB). Based on preoperative characteristics, they were divided in low-risk and high-risk patients. uNGAL measurements were collected at pre-defined times before, during, and up to 24 hours after surgery. Statistical Analysis: Data were analysed by use of SAS 1999-2001 program or IBM SPSS Statistics. Results: In low-risk patients, uNGAL had the highest value immediately after general anesthesia induction (basal dosage: uNGAL: 12.20ng×ml -1 , IQR 14.00). It later decreased significantly (3.40 ng×ml -1 , IQR 4.80; P = 0.006) during CPB, and finally return to its original value 24 hours after surgery. In high-risk patients, uNGAL increased immediately after surgery; it had the highest value on ICU arrival (38,20 ng×ml -1 ; IQR 133,10) and remained high for several hours. A difference in uNGAL levels between the two groups was already observed at the end of surgery, but it became statistically significant on ICU arrival (P = 0.002). Conclusion: This study helps to better understand the different kinetics of this new biomarker in low-risk and high-risk cardiac patients.
Published: 2015

48. Genetic susceptibility variants for lung cancer: replication study and assessment as expression quantitative trait loci

Author: Lorena Citterio, Matteo Dugo, Chiara E. Cotroneo, Tommaso A. Dragani, Paolo Manunta, Matteo Incarbone, Francesca Colombo, Luigi Santambrogio, Simona Delli Carpini, Giulia Pintarelli, Antonella Galvan, Davide Tosi, Sara Noci, Pintarelli, Giulia, Cotroneo, Chiara Elisabetta, Noci, Sara, Dugo, Matteo, Galvan, Antonella, Delli Carpini, Simona, Citterio, Lorena, Manunta, Paolo, Incarbone, Matteo, Tosi, Davide, Santambrogio, Luigi, Dragani, Tommaso A, and Colombo, Francesca
Subjects: Adult, Male, 0301 basic medicine, Proteasome Endopeptidase Complex, Lung Neoplasms, Quantitative Trait Loci, SNP, Adenocarcinoma of Lung, Single-nucleotide polymorphism, Adenocarcinoma, Biology, Polymorphism, Single Nucleotide, survival, Article, 03 medical and health sciences, 0302 clinical medicine, lung adenocarcinoma risk, medicine, Genetic predisposition, Humans, Genetic Predisposition to Disease, Allele, Lung cancer, Iron Regulatory Protein 2, Gene, Aged, Aged, 80 and over, Genetics, Multidisciplinary, Middle Aged, Endonucleases, medicine.disease, DNA-Binding Proteins, Gene Expression Regulation, Neoplastic, 030104 developmental biology, 030220 oncology & carcinogenesis, Expression quantitative trait loci, differential allelic expression, Female, ERCC1, Genome-Wide Association Study
Abstract: Many single nucleotide polymorphisms (SNPs) have been associated with lung cancer but lack confirmation and functional characterization. We retested the association of 56 candidate SNPs with lung adenocarcinoma risk and overall survival in a cohort of 823 Italian patients and 779 healthy controls, and assessed their function as expression quantitative trait loci (eQTLs). In the replication study, eight SNPs (rs401681, rs3019885, rs732765, rs2568494, rs16969968, rs6495309, rs11634351, and rs4105144) associated with lung adenocarcinoma risk and three (rs9557635, rs4105144, and rs735482) associated with survival. Five of these SNPs acted as cis-eQTLs, being associated with the transcription of IREB2 (rs2568494, rs16969968, rs11634351, rs6495309), PSMA4 (rs6495309) and ERCC1 (rs735482), out of 10,821 genes analyzed in lung. For these three genes, we obtained experimental evidence of differential allelic expression in lung tissue, pointing to the existence of in-cis genomic variants that regulate their transcription. These results suggest that these SNPs exert their effects on cancer risk/outcome through the modulation of mRNA levels of their target genes.
Published: 2017
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49. Evidence for three genetic loci involved in both anorexia nervosa risk and variation of body mass index

Author: Hinney, A., Kesselmeier, M., Huckins, Laura M, Hauser, Joanna, Karhunen, Leila, Meulenbelt, Ingrid, Slagboom, P Eline, Tortorella, Alfonso, Maj, Mario, Dedoussis, George, Dikeos, Dimitris, Gonidakis, Fragiskos, Tziouvas, Konstantinos, Southam, Lorraine, Tsitsika, Artemis, Papezova, Hana, Slachtova, Lenka, Martaskova, Debora, Kennedy, James L, Levitan, Robert D, Yilmaz, Zeynep, Huemer, Julia, Koubek, Doris, Merl, Elisabeth, Rayner, N William, Wagner, Gudrun, Lichtenstein, Paul, Breen, Gerome, Cohen-Woods, Sarah, Farmer, Anne, McGuffin, Peter, Cichon, Sven, Giegling, Ina, Herms, Stefan, Rujescu, Dan, Tachmazidou, Ioanna, Schreiber, Stefan, Wichmann, H-Erich, Dina, Christian, Sladek, Rob, Gambaro, Giovanni, Soranzo, Nicole, Julia, Antonio, Marsal, Sara, Rabionet, Raquel, Gaborieau, Valerie, Klump, Kelly L, Dick, Danielle M, Palotie, Aarno, Ripatti, Samuli, Widén, Elisabeth, Andreassen, Ole A, Espeseth, Thomas, Lundervold, Astri, Reinvang, Ivar, Steen, Vidar M, Hellard, Stephanie Le, Treasure, Janet, Mattingsdal, Morten, Ntalla, Ioanna, Bencko, Vladimir, Foretova, Lenka, Janout, Vladimir, Navratilova, Marie, Gallinger, Steven, Pinto, Dalila, Scherer, Stephen W, Aschauer, Harald, Lewis, Cathryn M, Carlberg, Laura, Schosser, Alexandra, Alfredsson, Lars, Ding, Bo, Klareskog, Lars, Padyukov, Leonid, Finan, Chris, Kalsi, Gursharan, Roberts, Marion, Logan, Darren W, Schmidt, Ulrike, Peltonen, Leena, Ritchie, Graham R S, Barrett, Jeff C, Estivill, Xavier, Hinney, Anke, Sullivan, Patrick F, Collier, David A, Zeggini, Eleftheria, Bulik, Cynthia M, Anderson, Carl A, Tozzi, Federica, Barrett, Jeffrey C, Floyd, James A B, Franklin, Christopher S, McGinnis, Ralph, Sambrook, Jennifer, Stephens, Jonathan, Ouwehand, Willem H, McArdle, Wendy L, iezebrink, Kirsty, Ring, Susan M, Strachan, David P, Alexander, Graeme, Conlon, Peter J, Dominiczak, Anna, Duncanson, Audrey, Hill, Adrian, Langford, Cordelia, Jall, S., Hebebrand, Johannes, Lord, Graham, Maxwell, Alexander P, Morgan, Linda, Sandford, Richard N, Sheerin, Neil, Vannberg, Frederik O, Blackburn, Hannah, Chen, Wei-Min, Edkins, Sarah, Gorwood, Philip, Gillman, Mathew, Gray, Emma, Hunt, Sarah E, Nengut-Gumuscu, Suna, Potter, Simon, Rich, Stephen S, Simpkin, Douglas, Whittaker, Pamela, Heid, I. M., Winkler, T. W., Adan, Roger A H, de Bakker, P., Bültmann, U., Geleijnse, M., Harst, P. V., Koppelman, G., Rosmalen, J. G., van Rossum, L., Smidt, H., Swertz, M. A., Stolk, R. P., Kas, Martien J H, Alizadeh, B., de Boer, R., Boezen, H. M., Bruinenberg, M., Franke, L., van der Harst, P., Hillege, H., van der Klauw, M., Navis, G., Ormel, J., Favaro, Angela, Postma, D., Rosmalen, J., Slaets, J., Snieder, H., Stolk, R., Wolffenbuttel, B., Wijmenga, C., Berg, J., Blackwood, D., Campbell, H., Santonastaso, Paolo, Cavanagh, J., Connell, J., Connor, M., Cunningham-Burley, S., Deary, I., Dominiczak, A., Ellis, P., FitzPatrick, B., Ford, I., Gertz, R., Fernández-Aranda, Fernando, Grau, A., Haddow, G., Jackson, C., Kerr, S., Lindsay, R., McGilchrist, M., McIntyre, D., Morris, A., Morton, R., Muir, W., Gratacos, Monica, Murray, G., Palmer, C., Pell, J., Philp, A., Porteous, D., Porteous, M., Procter, R., Ralston, S., Reid, D., Sinnott, R., Rybakowski, Filip, Smith, B., Clair, D. S., Sullivan, F., Sweetland, M., Ure, J., Watt, G., Wolf, R., Wright, A., Berndt, S. I., Gustafsson, S., Dmitrzak-Weglarz, Monika, Mägi, R., Ganna, A., Wheeler, E., Feitosa, M. F., Justice, A. E., Monda, K. L., Croteau- Chonka, D. C., Day, F. R., Esko, T., Fall, T., Volckmar, A-L, Kaprio, Jaakko, Ferreira, T., Gentilini, D., Jackson, A. U., Luan, J., Randall, J. C., Vedantam, S., Willer, C. J., Wood, A. R., Workalemahu, T., Keski-Rahkonen, Anna, Hu, Y. J., Lee, S. H., Liang, L., Lin, D. Y., Min, J. L., Neale, B. M., Thorleifsson, G., Yang, J., Albrecht, E., Amin, N., Raevuori-Helkamaa, Anu, Bragg-Gresham, J. L., Cadby, G., den Heijer, M., Eklund, N., Fischer, K., Goel, A., Hottenga, J. J., Huffman, J. E., Jarick, I., Johansson, A., Van Furth, Eric F, Johnson, T., Kanoni, S., Kleber, M. E., König, I. R., Kristiansson, K., Kutalik, Z., Lamina, C., Lecoeur, C., Li, G., Mangino, M., Slof-Op't Landt, Margarita C T, McArdle, W. L., Medina-Gomez, C., Müller-Nurasyid, M., Ngwa, J. S., Nolte, I. M., Paternoster, L., Pechlivanis, S., Perola, M., Peters, M. J., Preuss, M., Hudson, James I, Rose, L. M., Shi, J., Shungin, D., Smith, A. V., Strawbridge, R. J., Surakka, I., Teumer, A., Trip, M. D., Tyrer, J., Van Vliet- Ostaptchouk, J. V., Reichborn-Kjennerud, Ted, Vandenput, L., Waite, L. L., Zhao, J. H., Absher, D., Asselbergs, F. W., Atalay, M., Attwood, A. P., Balmforth, A. J., Basart, H., Beilby, J., Knudsen, Gun Peggy S, Bonnycastle, L. L., Brambilla, P., Chasman, D. I., Chines, P. S., Collins, F. S., Connell, J. M., Cookson, W., de Faire, U., Monteleone, Palmiero, de Vegt, F., Dei, M., Dimitriou, M., Edkins, S., Estrada, K., Evans, D. M., Farrall, M., Ferrario, M. M., Ferrières, J., Kaplan, Allan S, Frau, F., Gejman, P. V., Grallert, H., Grönberg, H., Gudnason, V., Hall, A. S., Hall, P., Hartikainen, A. L., Hayward, C., Heard-Costa, N. L., Föcker, M., Karwautz, Andreas, Heath, A. C., Hebebrand, J., Homuth, G., Hu, F. B., Hunt, S. E., Hyppönen, E., Iribarren, C., Jacobs, K. B., Jansson, J. O., Jula, A., Hakonarson, Hakon, Kähönen, M., Kathiresan, S., Kee, F., Khaw, K. T., Kivimaki, M., Koenig, W., Kraja, A. T., Kumari, M., Kuulasmaa, K., Kuusisto, J., Berrettini, Wade H, Laitinen, J. H., Lakka, T. A., Langenberg, C., Launer, L. J., Lind, L., Lindström, J., Liu, J., Liuzzi, A., Lokki, M. L., Lorentzon, M., Guo, Yiran, Madden, P. A., Magnusson, P. K., Manunta, P., Marek, D., März, W., Mateo Leach, I., McKnight, B., Medland, S. E., Mihailov, E., Milani, L., Li, Dong, Montgomery, G. W., Mooser, V., Mühleisen, T. W., Munroe, P. B., Musk, A. W., Narisu, N., Nicholson, G., Nohr, E. A., Ong, K. K., Schork, Nicholas J, Oostra, B. A., Palmer, C. N., Palotie, A., Peden, J. F., Pedersen, N., Peters, A., Polasek, O., Pouta, A., Pramstaller, P. P., Prokopenko, I., Komaki, Gen, Pütter, C., Radhakrishnan, A., Raitakari, O., Rendon, A., Rivadeneira, F., Rudan, I., Saaristo, T. E., Sambrook, J. G., Sanders, A. R., Sanna, S., Ando, Tetsuya, Saramies, J., Schipf, S., Schreiber, S., Schunkert, H., Shin, S. Y., Signorini, S., Sinisalo, J., Skrobek, B., Soranzo, N., Stancakova, A., Inoko, Hidetoshi, Stark, K., Stephens, J. C., Stirrups, K., Stumvoll, M., Swift, A. J., Theodoraki, E. V., Thorand, B., Tregouet, D. A., Tremoli, E., Esko, Tõnu, Van der Klauw, M. M., van Meurs, J. B., Vermeulen, S. H., Viikari, J., Virtamo, J., Vitart, V., Waeber, G., Wang, Z., Widen, E., Wild, S. H., Antel, J., Fischer, Krista, Willemsen, G., Winkelmann, B. R., Witteman, J. C., Wolffenbuttel, B. H., Wong, A., Wright, A. F., Zillikens, M., Amouyel, P., Boehm, B. O., Boerwinkle, E., Männik, Katrin, Boomsma, D. I., Caulfield, M. J., Chanock, S. J., Cupples, L., Cusi, D., Dedoussis, G. V., Erdmann, J., Eriksson, J. G., Franks, P. W., Froguel, P., Metspalu, Andres, Gieger, C., Gyllensten, U., Hamsten, A., Harris, T. B., Hengstenberg, C., Hicks, A. A., Hingorani, A., Hofman, A., Hovingh, K. G., Baker, Jessica H, Hveem, K., Illig, T., Jarvelin, M. R., Jöckel, K. H., Keinanen-Kiukaanniemi, S. M., Kiemeney, L. A., Kuh, D., Laakso, M., Lehtimäki, T., Levinson, D. F., Cone, Roger D, Martin, N. G., Metspalu, A., Morris, A. D., Nieminen, M. S., Njølstad, I., Ohlsson, C., Oldehinkel, A. J., Ouwehand, W. H., Palmer, L. J., Penninx, B., Dackor, Jennifer, Power, C., Province, M. A., Psaty, B. M., Qi, L., Rauramaa, R., Ridker, P. M., Ripatti, S., Salomaa, V., Samani, N. J., DeSocio, Janiece E, Sørensen, T. I., Spector, T. D., Stefansson, K., Tönjes, A., Tuomilehto, J., Uitterlinden, A. G., Uusitupa, M., Vollenweider, P., Wallaschofski, H., Hilliard, Christopher E, Wareham, N. J., Watkins, H., Wichmann, H, Wilson, J. F., Abecasis, G. R., Assimes, T. L., Barroso, I., Boehnke, M., Borecki, I. B., Deloukas, P., O'Toole, Julie K, Fox, C. S., Frayling, T., Groop, L. C., Haritunian, T., Hunter, D., Kaplan, R. C., Karpe, F., Moffatt, M., Mohlke, K. L., Pantel, Jacques, O'Connell, J. R., Pawitan, Y., Schadt, E. E., Schlessinger, D., Steinthorsdottir, V., Strachan, D. P., Thorsteinsdottir, U., van Duijn, C. M., Visscher, P. M., Di Blasio, A. M., Perica, Vesna Boraska, Szatkiewicz, Jin P, Hirschhorn, J. N., Lindgren, C. M., Morris, A. P., Meyre, D., Scherag, A., McCarthy, M. I., Speliotes, E. K., North, K. E., Loos, R. J., Grant, S. F. A., Taico, Chrysecolla, Adair, L. S., Ang, W., van Beijsterveldt, T., Bergen, N., Benke, K., Berry, D. J., Bradfield, J. P., Charoen, P., Zerwas, Stephanie, Coin, L., Cooper, C., Cousminer, D. L., Das, S., Davis, O. S., Elliott, P., Estivill, X., Feenstra, B., Trace, Sara E, Flexeder, C., Freathy, R. M., Gaillard, R., Geller, F., Gillman, M., Grant, S. F., Groen-Blokhuis, M., Goh, L. K., Guxens, M., Davis, Oliver S P, Hakonarson, H., Hattersley, A. T., Haworth, C. M., Hadley, D., Heinrich, J., Hocher, B., Holloway, J. W., Helder, Sietske, Holst, C., Horikoshi, M., Huikari, V., Hypponen, E., Iñiguez, C., Jaddoe, V. W., Kaakinen, M., Kilpeläinen, T. O., Bühren, Katharina, Kirin, M., Kowgier, M., Lakka, H. M., Lange, L. A., Lawlor, D. A., Lewin, A., Lindgren, C., Lindi, V., Burghardt, Roland, Maggi, R., Marsh, J., Melbye, M., Middeldorp, C., Millwood, I., Mook-Kanamori, D. O., Murray, J. C., Nivard, M., de Zwaan, Martina, Ntalla, I., Oken, E., O'Reilly, P. F., Panoutsopoulou, K., Pararajasingham, J., Pearson, E. R., Pennell, C. E., Egberts, Karin, Price, T. S., Raitakari, O. T., Rodriguez, A., Salem, R. M., Saw, S. M., Sebert, S., Siitonen, N., Ehrlich, Stefan, Simell, O., Sovio, U., Pourcain, B. S., Sunyer, J., Taal, H. R., Teo, Y. Y., Thiering, E., Tiesler, C., Herpertz-Dahlmann, Beate, Timpson, N. J., Valcárcel, B., Warrington, N. M., White, S., Widén, E., Yaghootkar, H., Zeggini, E., Herzog, Wolfgang, Elks, C. E., Perry, J. R., Sulem, P., Franceschini, N., He, C., Lunetta, K. L., Visser, J. A., Byrne, E. M., Imgart, Hartmut, Gudbjartsson, D. F., Koller, D. L., Lin, P., Marongiu, M., McArdle, P. F., Scherag, André, Stolk, L., van Wingerden, S. H., Corre, T., Ingelsson, E., Smith, E. N., Scherag, Susann, Ulivi, S., Warrington, M., Zgaga, L., Alavere, H., Aspelund, T., Bandinelli, S., Berenson, G. S., Bergmann, S., Zipfel, Stephan, Blackburn, H., Buring, J. E., Busonero, F., Chen, W., Cornelis, M. C., Couper, D., Coviello, A. D., Boni, Claudette, d'Adamo, P., de Geus, E. J., Döring, A., Davey Smith, G., Easton, D. F., Eiriksdottir, G., Emilsson, V., Eriksson, J., Ramoz, Nicolas, Ferrucci, L., Folsom, A. R., Foroud, T., Garcia, M., Gasparini, P., Hankinson, S. E., Versini, Audrey, Ferreli, L., Hernandez, D. G., Järvelin, M. R., Johnson, A. D., Karasik, D., Brandys, Marek K, Kiel, D. P., Kolcic, I., Kraft, P., Laven, J. S., Li, S., Levy, D., Danner, Unna N, Murray, S. S., Nalls, M. A., Navarro, P., Nelis, M., Ness, A. R., Northstone, K., de Kove, Carolien, Peacock, M., Paré, G., Parker, A. N., Pedersen, N. L., Peltonen, L., Pharoah, P., Hendriks, Judith, Plump, A. S., Porcu, E., Rafnar, T., Rice, J. P., Ring, S. M., Sala, C., Koeleman, Bobby P C, Schork, N. J., Scuteri, A., Segrè, A. V., Shuldiner, A. R., Srinivasan, S. R., Ophoff, Roel A, Tammesoo, M. L., Tikkanen, E., Toniolo, D., Tsui, K., Tryggvadottir, L., Uda, M., van Dam, R. M., Strengman, Eric, Waterworth, D. M., Weedon, M. N., Wichmann, H. E., Young, L., van Elburg, Annemarie A, Zhai, G., Zhuang, W. V., Bierut, L. J., Boyd, H. A., Crisponi, L., Demerath, E. W., Econs, M. J., Hunter, D. J., Bruson, Alice, Streeten, E. A., Clementi, Maurizio, Murabito, J. M., Murray, A., Guo, Y., Bergen, A. W., Kaye, W., Berrettini, W., Brandt, Harry, Crawford, Steve, Thornton, Laura M, Degortes, Daniela, Crow, Scott, Fichter, Manfred M, Halmi, Katherine A, Johnson, Craig, Via, Maria La, Mitchell, James, Strober, Michael, Rotondo, Alessandro, Forzan, Monica, Woodside, D Blake, Keel, Pamela, Lilenfeld, Lisa, Plotnicov, Kathy, Bergen, Andrew W, Berrettini, Wade, Kaye, Walter, Tenconi, Elena, Magistretti, Pierre, Herpertz-Dahlmann, B., de Zwaan, M., Herzog, W., Ehrlich, S., Zipfel, S., Egberts, K. M., Adan, R., Brandys, M., van Elburg, A., Docampo, Elisa, Boraska Perica, V., Franklin, C. S., Tschöp, M. H., Bulik, C. M., Collier, D., Müller, T. D., Escaramí, Geòrgia, Jiménez-Murcia, Susana, Lissowska, Jolanta, Rajewski, Andrzej, Szeszenia-Dabrowska, Neonila, Slopien, Agnieszka, Hinney, A., Kesselmeier, M., Jall, S., Volckmar, A. -L., Focker, M., Antel, J., Heid, I. M., Winkler, T. W., Grant, S. F. A., Guo, Y., Bergen, A. W., Kaye, W., Berrettini, W., Hakonarson, H., Herpertz-Dahlmann, B., De Zwaan, M., Herzog, W., Ehrlich, S., Zipfel, S., Egberts, K. M., Adan, R., Brandys, M., Van Elburg, A., Boraska Perica, V., Muller, T. D., Tschop, M. H., Zeggini, E., Bulik, C. M., Collier, D., Scherag, A., Hebebrand, J., Perica, V. B., Floyd, J. A. B., Thornton, L. M., Huckins, L. M., Southam, L., Rayner, N. W., Tachmazidou, I., Klump, K. L., Treasure, J., Lewis, C. M., Schmidt, U., Tozzi, F., Iezebrink, K., Gorwood, P., Kas, M. J. H., Favaro, A., Santonastaso, P., Fernandez-Aranda, F., Gratacos, M., Rybakowski, F., Dmitrzak-Weglarz, M., Kaprio, J., Keski-Rahkonen, A., Raevuori-Helkamaa, A., Van Furth, E. F., Slof-Op't Landt, M. C. T., Hudson, J. I., Reichborn-Kjennerud, T., Knudsen, G. P. S., Monteleone, P., Kaplan, A. S., Karwautz, A., Li, D., Komaki, G., Ando, T., Inoko, H., Esko, T., Fischer, K., Mannik, K., Metspalu, A., Baker, J. H., Cone, R. D., Dackor, J., Desocio, J. E., Hilliard, C. E., O'Toole, J. K., Pantel, J., Szatkiewicz, J. P., Taico, C., Zerwas, S., Trace, S. E., Davis, O. S. P., Helder, S., Buhren, K., Burghardt, R., Imgart, H., Scherag, S., Boni, C., Ramoz, N., Versini, A., Danner, U. N., de Kove, C., Hendriks, J., Koeleman, B. P. C., Ophoff, R. A., Strengman, E., Bruson, A., Clementi, M., Degortes, D., Forzan, M., Tenconi, E., Docampo, E., Jimenez-Murcia, G. E. S., Lissowska, J., Rajewski, A., Szeszenia-Dabrowska, N., Slopien, A., Hauser, J., Karhunen, L., Meulenbelt, I., Slagboom, P. E., Tortorella, A., Maj, M., Dedoussis, G., Dedoussis, G. V., Dikeos, D., Gonidakis, F., Tziouvas, K., Tsitsika, A., Papezova, H., Slachtova, L., Martaskova, D., Kennedy, J. L., Levitan, R. D., Yilmaz, Z., Huemer, J., Koubek, D., Merl, E., Wagner, G., Lichtenstein, P., Breen, G., Cohen-Woods, S., Farmer, A., Mcguffin, P., Cichon, S., Giegling, I., Herms, S., Rujescu, D., Schreiber, S., Wichmann, H. -E., Christian, D., Sladek, R., Gambaro, G., Soranzo, N., Julia, A., Marsal, S., Rabionet, R., Gaborieau, V., Dick, D. M., Palotie, A., Ripatti, S., Widen, E., Andreassen, O. A., Espeseth, T., Lundervold, A., Reinvang, I., Steen, V. M., Le Hellard, S., Mattingsdal, M., Ntalla, I., Bencko, V., Foretova, L., Janout, V., Navratilova, M., Gallinger, S., Pinto, D., Scherer, S. W., Aschauer, H., Carlberg, L., Schosser, A., Alfredsson, L., Ding, B., Klareskog, L., Padyukov, L., Finan, C., Kalsi, G., Roberts, M., Logan, D. W., Peltonen, L., Ritchie, G. R. S., Barrett, J. C., Estivill, X., Sullivan, P. F., Anderson, C. A., Mcginnis, R., Sambrook, J., Stephens, J., Ouwehand, W. H., Mcardle, W. L., Mcardle, P. F., Ring, S. M., Strachan, D. P., Alexander, G., Conlon, P. J., Dominiczak, A., Duncanson, A., Hill, A., Langford, C., Lord, G., Maxwell, A. P., Morgan, L., Sandford, R. N., Sheerin, N., Vannberg, F. O., Chen, W. -M., Edkins, S., Gillman, M., Gray, E., Hunt, S. E., Nengut, S. -G., Potter, S., Rich, S. S., Simpkin, D., Whittaker, P., Adair, L. S., Ang, W., Atalay, M., van Beijsterveldt, T., Bergen, N., Benke, K., Berry, D. J., Boomsma, D. I., Bradfield, J. P., Charoen, P., Coin, L., Cooper, C., Cousminer, D. L., Das, S., Elliott, P., Evans, D. M., Feenstra, B., Flexeder, C., Frayling, T., Freathy, R. M., Gaillard, R., Geller, F., Groen-Blokhuis, M., Goh, L. K., Guxens, M., Hattersley, A. T., Haworth, C. M., Hadley, D., Heinrich, J., Hirschhorn, J. N., Hocher, B., Holloway, J. W., Holst, C., Hottenga, J. J., Horikoshi, M., Huikari, V., Hypponen, E., Iniguez, C., Jaddoe, V. W., Jarvelin, M. R., Kaakinen, M., Kilpelainen, T. O., Kirin, M., Kowgier, M., Lakka, H. M., Lakka, T. A., Lange, L. A., Lawlor, D. A., Lehtimaki, T., Lewin, A., Lindgren, C., Lindi, V., Maggi, R., Marsh, J., Mccarthy, M. I., Melbye, M., Middeldorp, C., Millwood, I., Mohlke, K. L., Mook-Kanamori, D. O., Murray, J. C., Nivard, M., Nohr, E. A., Oken, E., Ong, K. K., O'Reilly, P. F., Palmer, L. J., Panoutsopoulou, K., Pararajasingham, J., Pearson, E. R., Pennell, C. E., Power, C., Price, T. S., Prokopenko, I., Raitakari, O. T., Rodriguez, A., Salem, R. M., Saw, S. M., Sebert, S., Siitonen, N., Simell, O., Sorensen, T. I., Sovio, U., Pourcain, B. S., Sunyer, J., Taal, H. R., Teo, Y. Y., Thiering, E., Tiesler, C., Timpson, N. J., Uitterlinden, A. G., Valcarcel, B., Warrington, N. M., White, S., Willemsen, G., Wilson, J. F., Yaghootkar, H., Elks, C. E., Perry, J. R., Sulem, P., Chasman, D. I., Franceschini, N., He, C., Lunetta, K. L., Visser, J. A., Byrne, E. M., Gudbjartsson, D. F., Koller, D. L., Kutalik, Z., Lin, P., Mangino, M., Marongiu, M., Smith, A. V., Stolk, L., van Wingerden, S. H., Zhao, J. H., Albrecht, E., Corre, T., Ingelsson, E., Hayward, C., Magnusson, P. K., Smith, E. N., Ulivi, S., Warrington, M., Zgaga, L., Alavere, H., Amin, N., Aspelund, T., Bandinelli, S., Barroso, I., Berenson, G. S., Bergmann, S., Boerwinkle, E., Buring, J. E., Busonero, F., Campbell, H., Chanock, S. J., Cornelis, M. C., Couper, D., Coviello, A. D., D'Adamo, P., de Faire, U., de Geus, E. J., Deloukas, P., Doring, A., Davey Smith, G., Easton, D. F., Eiriksdottir, G., Emilsson, V., Eriksson, J., Ferrucci, L., Folsom, A. R., Foroud, T., Garcia, M., Gasparini, P., Gieger, C., Gudnason, V., Hall, P., Hankinson, S. E., Ferreli, L., Heath, A. C., Hernandez, D. G., Hofman, A., Hu, F. B., Illig, T., Karasik, D., Khaw, K. T., Kiel, D. P., Kolcic, I., Kraft, P., Launer, L. J., Laven, J. S., Li, S., Liu, J., Levy, D., Martin, N. G., Mooser, V., Murray, S. S., Nalls, M. A., Navarro, P., Nelis, M., Ness, A. R., Northstone, K., Oostra, B. A., Peacock, M., Pare, G., Parker, A. N., Pedersen, N. L., Pharoah, P., Polasek, O., Plump, A. S., Pouta, A., Porcu, E., Rafnar, T., Rice, J. P., Rivadeneira, F., Rudan, I., Sala, C., Salomaa, V., Sanna, S., Schlessinger, D., Scuteri, A., Segre, A. V., Shuldiner, A. R., Srinivasan, S. R., Tammesoo, M. L., Tikkanen, E., Toniolo, D., Tsui, K., Tryggvadottir, L., Tyrer, J., Uda, M., van Dam, R. M., van Meurs, J. B., Vollenweider, P., Waeber, G., Wareham, N. J., Waterworth, D. M., Weedon, M. N., Wright, A. F., Young, L., Zhai, G., Zhuang, W. V., Bierut, L. J., Boyd, H. A., Crisponi, L., Demerath, E. W., van Duijn, C. M., Econs, M. J., Harris, T. B., Hunter, D. J., Loos, R. J., Ridker, P. M., Spector, T. D., Streeten, E. A., Stefansson, K., Thorsteinsdottir, U., Murabito, J. M., Murray, A., Brandt, H., Crawford, S., Crow, S., Fichter, M. M., Halmi, K. A., Johnson, C., La Via, M., Mitchell, J., Strober, M., Rotondo, A., Woodside, D. B., Keel, P., Lilenfeld, L., Plotnicov, K., Magistretti, P., Montgomery, G. W., Blackburn, H., Schork, N. J., Hinney, Anke, Kesselmeier, Miriam, Jall, Sigrid, Volckmar, Anna-Lena, Föcker, Manuel, Hebebrand, J, GCAN, WTCCC3, GIANT, EGG, Price Foundation Collaborative Group, Children’s Hospital of Philadelphia/Price Foundation, Cardiology, Vascular Medicine, ACS - Amsterdam Cardiovascular Sciences, ACS - Atherosclerosis & ischemic syndromes, Hinney, A, Kesselmeier, M, Jall, S, Volckmar, Al, Focker, M, Antel, J, Gcan, Wtccc3, Heid, Im, Winkler, Tw, Grant, Sfa, Giant, Manunta, P, Sfa, Grant, Egg, Guo, Y, Bergen, Aw, Kaye, W, Berrettini, W, Hakonarson, H, Price Foundation Collaborative, Group, Children’s Hospital of Philadelphia/Price, Foundation, Herpertz-Dahlmann, B, de Zwaan, M, Herzog, W, Ehrlich, S, Zipfel, S, Egberts, Km, Adan, R, Brandys, M, van Elburg, A, Perica, Vb, Franklin, C, Tschop, Mh, Zeggini, E, Bulik, Cm, Collier, D, Scherag, A, Muller, Td, Animal Ecology, Biological Psychology, APH - Health Behaviors & Chronic Diseases, APH - Personalized Medicine, Amsterdam Neuroscience - Mood, Anxiety, Psychosis, Stress & Sleep, APH - Mental Health, APH - Methodology, Volckmar, A-L, Föcker, M, Gcan, Wtccc, Gasparini, P, D'Adamo, A, Children’S Hospital of Philadelphia/Price, Foundation, Boraska Perica, V, Tschöp, Mh, and Müller, Td
Subjects: Netherlands Twin Register (NTR), Male, Anorexia Nervosa, Genome-wide association study, Cardiovascular, Linkage Disequilibrium, Body Mass Index, 0302 clinical medicine, Databases, Genetic, WTCCC3, Aetiology, Cancer, 0303 health sciences, Loci, Genetic Predisposition to Disease/genetics, Cross-disorder, Anorèxia nerviosa, anorexia nervosa (AN), Shared, 3. Good health, Psychiatry and Mental health, Urological cancers Radboud Institute for Health Sciences [Radboudumc 15], Human, Alleles, Body Weight, Female, Gene Frequency, Genetic Loci, Genetic Predisposition to Disease, Genetic Variation, Genome-Wide Association Study, Humans, Obesity, Polymorphism, Single Nucleotide, Risk Factors, Molecular Biology, Psychiatry and Mental Health, Cellular and Molecular Neuroscience, medicine.medical_specialty, Locus (genetics), Single-nucleotide polymorphism, ta3111, Article, 03 medical and health sciences, Genetic, SDG 3 - Good Health and Well-being, Genetics, EGG, Polymorphism, Children’s Hospital of Philadelphia/Price Foundation, body mass index (BMI), genome-wide association meta-analysis (GWAMA), Prevention, ta1184, medicine.disease, 030104 developmental biology, Endocrinology, diagnostic markers, Body mass index, Genètica, 030217 neurology & neurosurgery, 0301 basic medicine, Linkage disequilibrium, GIANT, Medizin, Obesity/genetics, Overweight, Medical and Health Sciences, Oral and gastrointestinal, Anorexia Nervosa/genetics, 2.1 Biological and endogenous factors, Psychiatry, 2. Zero hunger, Allele, Eating disorder, Single Nucleotide, Biological Sciences, Polymorphism, Single Nucleotide/genetics, Price Foundation Collaborative Group, Stroke, psychiatric disorders, Gene Frequency/genetics, medicine.symptom, Databases, Internal medicine, Body Weight/genetics, medicine, Journal Article, Linkage Disequilibrium/genetics, ddc:610, Metabolic and endocrine, Nutrition, 030304 developmental biology, GCAN, business.industry, Risk Factor, Human Genome, Psychology and Cognitive Sciences, Bulimia nervosa, business
Abstract: The maintenance of normal body weight is disrupted in patients with anorexia nervosa (AN) for prolonged periods of time. Prior to the onset of AN, premorbid body mass index (BMI) spans the entire range from underweight to obese. After recovery, patients have reduced rates of overweight and obesity. As such, loci involved in body weight regulation may also be relevant for AN and vice versa. Our primary analysis comprised a cross-trait analysis of the 1000 single-nucleotide polymorphisms (SNPs) with the lowest P-values in a genome-wide association meta-analysis (GWAMA) of AN (GCAN) for evidence of association in the largest published GWAMA for BMI (GIANT). Subsequently we performed sex-stratified analyses for these 1000 SNPs. Functional ex vivo studies on four genes ensued. Lastly, a look-up of GWAMA-derived BMI-related loci was performed in the AN GWAMA. We detected significant associations (P-values
Published: 2017
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50. Pseudoexfoliation syndrome-associated genetic variants affect transcription factor binding and alternative splicing of LOXL1

Author: Shin-ichi Manabe, Friedrich E. Kruse, Christian Gieger, Paolo Frezzotti, Heinz-Erich Wichmann, Daniele Cusi, Takanori Mizoguchi, Panah Liravi, Daniel Berner, Francesca Pasutto, Fulvia Ferrazzi, Satoko Nakano, Tin Aung, André Reis, Mineo Ozaki, Ursula Schlötzer-Schrehardt, Steffen Uebe, Ursula Hoja, Daniela Paoli, Chiea Chuen Khor, Matthias Zenkel, Johannes Schödel, Toshiaki Kubota, Erika Salvi, Paolo Manunta, Pasutto, Francesca, Zenkel, Matthia, Hoja, Ursula, Berner, Daniel, Uebe, Steffen, Ferrazzi, Fulvia, Schödel, Johanne, Liravi, Panah, Ozaki, Mineo, Paoli, Daniela, Frezzotti, Paolo, Mizoguchi, Takanori, Nakano, Satoko, Kubota, Toshiaki, Manabe, Shinichi, Salvi, Erika, Manunta, Paolo, Cusi, Daniele, Gieger, Christian, Wichmann, Heinz Erich, Aung, Tin, Khor, Chiea Chuen, Kruse, Friedrich E, Reis, André, and Schlötzer Schrehardt, Ursula
Subjects: Male, 0301 basic medicine, General Physics and Astronomy, Genome-wide association study, Exfoliation Syndrome, 0302 clinical medicine, Japan, Germany, 80 and over, Transversion, Aged, 80 and over, Genetics, Multidisciplinary, Single Nucleotide, Middle Aged, Chromatin, Enhancer Elements, Genetic, Italy, Aged, Alleles, Amino Acid Oxidoreductases, Case-Control Studies, Female, Genome-Wide Association Study, Genotype, Glaucoma, Humans, Introns, Polymorphism, Single Nucleotide, Protein Binding, Retinoid X Receptor alpha, Alternative Splicing, Genetic Predisposition to Disease, Enhancer Elements, Science, Pseudoexfoliation syndrome, Biology, Article, General Biochemistry, Genetics and Molecular Biology, 03 medical and health sciences, Genetic, medicine, Polymorphism, Allele, Transcription factor, Retinoid X receptor alpha, Alternative splicing, Intron, General Chemistry, medicine.disease, eye diseases, 030104 developmental biology, 030221 ophthalmology & optometry
Abstract: Although lysyl oxidase-like 1 (LOXL1) is known as the principal genetic risk factor for pseudoexfoliation (PEX) syndrome, a major cause of glaucoma and cardiovascular complications, no functional variants have been identified to date. Here, we conduct a genome-wide association scan on 771 German PEX patients and 1,350 controls, followed by independent testing of associated variants in Italian and Japanese data sets. We focus on a 3.5-kb four-component polymorphic locus positioned spanning introns 1 and 2 of LOXL1 with enhancer-like chromatin features. We find that the rs11638944:C>G transversion exerts a cis-acting effect on the expression levels of LOXL1, mediated by differential binding of the transcription factor RXRα (retinoid X receptor alpha) and by modulating alternative splicing of LOXL1, eventually leading to reduced levels of LOXL1 mRNA in cells and tissues of risk allele carriers. These findings uncover a functional mechanism by which common noncoding variants influence LOXL1 expression., LOXL1 is a genetic risk factor for pseudoexfoliation syndrome of the eye but a causal variant has not been identified. Here, Pasutto et al., find intronic LOXL1 risk variants influence transcription factor binding and alternative splicing of LOXL1 in affected tissues reducing levels of LOXL1 mRNA.
Published: 2017
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