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2,544 results on '"Schubach A"'

1. Comparison between colorimetric in Situ hybridization, histopathology, and immunohistochemistry for the diagnosis of new world cutaneous leishmaniasis in human skin samples

Author

Ferreira, Luiz Claudio, Quintella, Leonardo Pereira, de Oliveira Schubach, Armando, de Freitas Campos Miranda, Luciana, de Fatima Madeira, Maria, Pimentel, Maria Ines Fernandes, Ferreira e Vasconcellos, Erica de Camargo, Lyra, Marcelo Rosandiski, de Oliveira, Raquel de Vasconcellos Carvalhaes, and Menezes, Rodrigo Caldas

Published
2022

2. Descriptive analysis of the cases published in the Align® Global Gallery

Author

Luísa Schubach da Costa BARRETO, Rafael Cunha BITTENCOURT, Marcella Barreto FERREIRA, Sarah Braga Sayão de PAULA, Cláudia Trindade MATTOS, and José Augusto Mendes MIGUEL

Subjects
Clinical protocols, Orthodontic appliances, removable, Orthodontics, Dentistry, RK1-715
Abstract

ABSTRACT Introduction: Social media enhanced access to information, making it easier to share dental treatments. Objective: This study aimed to conduct a descriptive analysis of the clinical cases published on the Align® Global Gallery platform. Material and Methods: A retrospective cross-sectional study of 1,582 cases was conducted, data extracted referred to the following basic information: case number; patient’s age; reported gender; Invisalign® package modality; treatment time; aligner exchange protocol; total number of aligners per arch; type of retainers, and inclusion of initial and final panoramic and cephalometric radiographs. Results: The majority were young (mean age 24.6 years, SD = 11.6), female patients (69.1%) with Class I malocclusion (39.4%) and crowding (77.9%). Comprehensive treatment was common (66.5%), with an average treatment time of 18 months (SD = 8.56; 95% CI = 17.6-18.5), with the most frequently reported aligner exchange protocol being 7 days (49.5%), with an average of 50.6 aligners in the upper arch (SD = 26.9; 95% CI = 49.2-51.9), and 48.7 in the lower arch (SD = 26.1; 95% CI = 47.4-50.0). Arch expansion (66.9%) and interproximal reduction (59.7%) were common approaches, while extractions were rare (4.3%). In most cases, initial lateral cephalometric (80.4%) and panoramic (93.3%) radiographs were presented. However, the final radiograph count dropped, with lateral cephalometric at 69.2%, and panoramic at 82.2% of cases. Conclusion: Cases in the Align®Global Gallery mostly feature Class I patients with crowded teeth, treated with expansion and interproximal reduction. The absence of standardized information and post-treatment data restricts the applicability of these findings to broader Invisalign® treatment trends.

Published
2024
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4. Sobre a origem e dispersão das leishmanioses cutânea e mucosa com base em fontes históricas pré e pós-colombianas

Author

Altamirano-Enciso Alfredo J., Marzochi Mauro C. A., Moreira João S., Schubach Armando O., and Marzochi Keyla B. F.

Subjects
leishmaniose mucosa, história, Peru, Incas, Andes, Amazônia, History of medicine. Medical expeditions, R131-687
Abstract

A partir de quatro fontes do século XVI, são relatadas algumas ocorrências sugestivas de leishmaniose tegumentar americana (LTA) no território andino. A reinterpretação dessas fontes permite enfocar o velho tema da origem da espundia ou leishmaniose de forma mucosa (LM). O artigo reforça a hipótese de que a LM tenha se originado na área amazônica ocidental em tempos arqueológicos por intermédio de migrações humanas, depois ascendido à selva alta e, posteriormente, às terras quentes interandinas, pelos limites da Bolívia e do Peru com o Brasil. As migrações dos mitmaq ou mitimaes contribuíram para sua intensificação durante o império inca. Tais fatos se desenvolvem no contexto histórico e social da queda do império inca e da instalação da colônia espanhola.

Published
2003

5. Data-driven subclassification of ANCA-associated vasculitis: model-based clustering of a federated international cohort

Author

Tassoni, Adrian, Mohammad, Aladdin J, Bettiol, Alessandra, Tais, Arlette, White, Arthur, Vaglio, Augusto, Terrier, Benjamin, Yaman, Beyza, Armstrong, Cecil, O'Sullivan, Declan, Wandrei, Dagmar, Kalra, Dipak, Schubach, Fabian, Dradin, François, Emmi, Giacomo, Bagni, Giacomo, Ihorst, Gabriele, Aerts, Hannelore, Kardaoui, Hicham, Mattioli, Irene, Sengers, Iris, Musial, Jacek, Scott, Jennifer, Mills, John, Julie Power, Julie, Gisslander, Karl, Wawrzycka-Adamczyk, Katarzyna, McGlinn, Kris, Wójcik, Krzysztof, Aslett, Louis, Hederman, Lucy, Dunne, Margaret, Alba, Marco A, Christofidou, Maria, Little, Mark A, Segelmark, Mårten, Crnogorac, Matija, Rutherford, Matthew, Tesi, Michelangelo, Lea, Nathan, Basu, Neil, Lamprecht, Peter, Verhoeven, Peter, de Boer, Raïssa, Straka, Richard, Lichołai, Sabina, Arnold, Sabrina, Tesar, Vladimir, Puéchal, Xavier, Hruskova, Zdenka, Hrušková, Zdenka, Musiał, Jacek, Nazeer, Jamsheela, Ng, James, and Tesař, Vladimir

Published
2024
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7. Sporotrichosis: an emergent zoonosis in Rio de Janeiro

Author

Barros Mônica Bastos de Lima, Schubach Tânia Maria Pacheco, Gutierrez Galhardo Maria Clara, Schubach Armando de Oliveira, Monteiro Paulo Cezar Fialho, Reis Rosani Santos, Zancopé-Oliveira Rosely Maria, Lazéra Márcia dos Santos, Cuzzi-Maya Tullia, Blanco Tânia Cristina Moita, Marzochi Keyla Belizia Feldman, Wanke Bodo, and Valle Antonio Carlos Francesconi do

Subjects
Sporothrix schenckii, sporotrichosis, emergent zoonosis, Rio de Janeiro, Brazil, Microbiology, QR1-502, Infectious and parasitic diseases, RC109-216
Abstract

During the period from 1987 to 1998, 13 cases of human sporotrichosis were recorded at the Research Center Evandro Chagas Hospital (CPqHEC) in Rio de Janeiro. Two of these patients related scratch by a sick cat. During the subsequent period from July 1998 to July 2000, 66 human, 117 cats and 7 dogs with sporotrichosis were diagnosed at the CPqHEC. Fifty-two humans (78.8%) reported contact with cats with sporotrichosis, and 31 (47%) of them reporting a history of a scratch or bite. This epidemic, unprecedented in the literature, involving cats, dogs and human beings may have started insidiously before 1998.

Published
2001

8. Direct-to-Consumer Telemedicine Practices in the Health and Fertility of Men: A Systematic Review of the Literature

Author

Christopher Lim, Winston Wu, Justin La, Vincent Chan, Kathryn M. Schubach, Glenn Duns, Daniel Lantsberg, and Darren J. Katz

Subjects
direct-to-consumer advertising, erectile dysfunction, men’s health, telemedicine, Medicine, Diseases of the genitourinary system. Urology, RC870-923
Abstract

Purpose: Men are increasingly turning toward online direct-to-consumer (DTC) men’s health platforms to fulfill their health needs. Research surrounding these platforms is lacking and the motivations and predictors underlying this online healthseeking behavior is largely unknown. This review scopes the existing literature concerning DTC men’s health and identifies factors influencing engagement, as well as health outcomes of this platform. Materials and Methods: A structured search was performed following PRISMA guidelines. CINAHL via EBSCO, Embase, MEDLINE via Ovid, PsycINFO, PubMed and Web of Science were searched. Results: Peer-reviewed quantitative and qualitative studies with a focus on demographics and characteristics of those using DTC men’s health platforms, as well as studies related to patient outcomes using such platforms, were included. Ten of the 3,003 studies identified met the inclusion and exclusion criteria. Four cross-sectional descriptive studies evaluated the motivations behind men’s engagement with DTC platforms. Convenience, embarrassment and health motivation were identified as predominant factors associated with DTC platform use. The review identified a lack of qualitative studies, and major limitations were noted in the quantitative studies that impacted the accuracy of findings. Six further quantitative studies explored the quality of care provided by DTC platforms. DTC platforms were found to have a varying level of adherence to established clinical guidelines, but appeared to provide satisfactory patient outcomes with low levels of patient-reported side effects and adverse events. Conclusions: There is a lack of research within the DTC men’s health space given the infancy of the field. Important predictors and motivations underlying men’s choices in accessing these platforms have been noted across several studies. However, further studies need to be conducted to investigate the psychosocial underpinnings of this behavior. Studies across a wider variety of male health conditions treated by these platforms will also help to provide insights to guide patient-centered care within the DTC landscape.

Published
2024
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9. Thoracic Surgery

Author

Zohourian, Tirajeh, Harris, Randi, Schubach, Scott, Spier, Laurence, Ajouz, Hana, editor, Brathwaite, Collin E. M., editor, Cerfolio, Robert J., editor, and Pachter, Hersch Leon, editor

Published
2023
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11. Self-reporting of hearing loss and tinnitus in the diagnosis of ototoxicity by meglumine antimoniate in patients treated for American tegumentary Leishmaniasis

Author

Claudia Cristina Jardim Duarte, Tania Salgado de Sousa Torraca, Débora de Oliveira Bezerra, Renata de Barcelos Oliveira, Nayany Kerollyany Sousa Leite, Raquel de Vasconcellos Carvalhaes de Oliveira, Maria Helena Araújo-Melo, Maria Inês Fernandes Pimentel, Ananda Dutra da Costa, Érica de Camargo Ferreira Vasconcellos, Marcelo Rosandiski Lyra, Ester Cleisla dos Anjos Soares, Lúcia Regina do Nascimento Brahim Paes, Mariza Mattos Salgueiro, Armando de Oliveira Schubach, and Cláudia Maria Valete

Subjects
Medicine, Science
Published
2024

12. You want to sell this to me twice!? How perceptions of betrayal may undermine internal product upgrades

Author

Garbas, Janina, Schubach, Sebastian, Mende, Martin, Scott, Maura L., and Schumann, Jan H.

Subjects
Product life cycle -- Psychological aspects, Marketing research, Perception -- Research, Advertising, marketing and public relations, Business
Abstract

Physical products (e.g., cars, smartphones) increasingly evolve into dynamic service platforms that allow for customization through fee-based activation of restricted add-on features throughout their lifecycle. The authors refer to this emerging phenomenon as 'internal product upgrades'. Drawing on normative expectations literature, this research examines pitfalls of internal product upgrades that marketers need to understand. Six experimental studies in two different contexts (consumer-electronics, automotive) reveal that consumers respond less favorably to internal (vs. external) product upgrades. The analyses show that customer-perceived betrayal, which results from increased feature ownership perceptions, drives the effects. Moreover, this research identifies three boundary conditions: it shows that the negative effects are attenuated when (1) the company (vs. consumer) executes the upgrading, and (2) consumers upgrade an intangible (vs. tangible) feature. Finally, consumers react less negatively when (3) the base product is less relevant to their self-identity., Author(s): Janina Garbas [sup.1] [sup.2] , Sebastian Schubach [sup.2] , Martin Mende [sup.3] , Maura L. Scott [sup.3] , Jan H. Schumann [sup.2] Author Affiliations: (1) grid.1957.a, 0000 0001 0728 [...]

Published
2023
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13. Extracorporeal Life Support Organization Registry International Report 2022: 100,000 Survivors

Author

Tonna, Joseph E., Boonstra, Philip S., MacLaren, Graeme, Paden, Matthew, Brodie, Daniel, Anders, Marc, Hoskote, Aparna, Ramanathan, Kollengode, Hyslop, Rob, Fanning, Jeffrey J., Rycus, Peter, Stead, Christine, Barrett, Nicholas A., Mueller, Thomas, Gómez, Rene D., Malhotra Kapoor, Poonam, Fraser, John F., Bartlett, Robert H., Alexander, Peta M.A., Barbaro, Ryan P., Abbasi, Adeel, Said Abdalmohsen, Ahmad, Abdelbary, Akram M., Abecasis, Francisco, Abel, Peter, Abu-Omar, Yasir, Adams, Douglas R, Manuel Africano, Juan, Aganga, Devon, Agati, Salvatore, Agerstrand, Cara, Aguillon, Mario V., Akers, Crystal S., Akhtarekhavari, Julia, Alazzam, Mohammad Izzat Salah, Albert, Martin, Alberti, Angela, Al-Fares, Abdulrahman A., Alfoudri, Huda, Allaert, Silvie, Allbert, Keesha N., Allen, Christopher T., Lescano Alva, Miguel Ángel, Alwardt, Cory M., Amigoni, Angela, Anandamurthy, Balaram, Anastasiadis, Kyriakos, Anders, Nicholas R., Anderson, Scott A., Anderson, Patricia L., Andrijević, Ana, Annoni, Alice, Anselmi, Michael, Anstey, James R., Antonini, Marta V., Antonitsis, Polychronis, Stein Araujo, Tays, Arcalas, Rhodney, Areinamo, Igor, Martin Arias, Anibal, Armijo-Garcia, Veronica, Aronsky, Vladimir, Arora, Lovkesh, Arora, Madhur, Leigh Aspenleiter, Marit, Atik, Fernando A., AugustGeorg Auzinger, Erin Colleen, Azzam, Ismail, Bacchetta, Matthew, Bak, Erica I., Balcells, Joan, Sánchez Ballesteros, Jesús, Banjac, Igor S., Barbaria, Jacqueline M., Barrigoto, Cleide L., Bass, Stephanie D., Batranović, Uroš, Bauer, Matthew H., Fernando Bautista, Diego, Beck, Robert M., Giraldo Bejarano, Estefania, Belohlavek, Jan, Bembea, Melania M., Benes, Jan, Benharash, Peyman, Benish, Lynne A., Bennett, Suzanne, Bento, Luís F.N., Bermudez, Christian A., Bertini, Pietro, Best, Derek, Bharat, Ankit, Bhutta, Omar J., Bizzell, Samantha J., Blakeman, Stephanie A., Blanco-Schweizer, Pablo, Blanton, Jessica K., Blood, Peggy S., Bohlmann, Allison S., Kyle Bohman, John, Bombino, Michela, Kathleen Bonadonna, Desiree, Bond, Ashley, Borgmann, Kristina M., Bourgoin, Pierre, Boville, Brian M., Boza, Raquel, Brady, Heather L., Brady, Alison, Braunlich, Jessica M., Bridges, Brian C., Brinkley, Karen K., Brookshire, Robert S., Brozzi Nicole Brueggemann, Nicolas A., Buckley, Dwight P., Jr., Buckley, Klayton, Budhani, Irfan B., Bukamal, Nazar, Burgos, Lucrecia M, Burša, Filip, Busby, Landon K., Buscher, Hergen, Butler, Menoly, Butt, Warwick W., Byrnes, Jonathan W., Calaritis, Christos, Caldwell, Lisa R., Calligaro, Gregory L., Campbell, Patrick T., Camporota, Luigi, Fernando Caneo, Luiz, Jovo Carapic, Vladimir, Carrasco-Carrasco, Cristina, Ivan Carrizo, Nestor, Carrow, Heidi, Carton, Edmund G., Casabella, Christian, Gomez Casal, Vanesa, Casey, Francis L., III, Castillo, Andres, Castleberry, Anthony W., Alexandros Cavayas, Yiorgos, Cerqua, Karey, Ming Chan, Kai Man ChanWai, Brian Chapman, Jason, Brahma Chari, Hari, Cheifetz, Omair ChaudharyIra M., Chen, Robin H.S, Chen, Weiting, Cheung, Eva W., Cheung, Anson, Chico, Juan I., Chiletti, Roberto, Jin Cho, Hwa, Cholette, Jill M., Christensen, Steffen, Chui, Betty S., Circelli, Alessandro, Clement, Katherine C., Cleuziou, Julie, Clouse, Brian, Cole, Gwendolen, Coles, Garrett M., Collins, Monika F., Collins, Monika F., Connelly, James, Conrad, Steven A., Cook, Marlene, Copeland, Hannah, Copus, Scott C., Cox, Charles S., Jr, Craig, Lynne K., Crain, Natasha, Cremonese, Ricardo V., Criswell, Emily A., Cross, Lisa M., Crowley, Moira A., Crowley, Jerome C., Cruz, Leonora, Cypel, Marcelo, Czarnik, Tomasz, Czuczwa, Miroslaw E., Sica da Rocha, Taís, Daddow, Samuel, Dali, Dante C., Dalton, Heidi J., Daly, Kathleen J.R., Damuth, Emily, Daniel, Dennis A., Daniel IV, John M., Daniel, Josiane M., Danis, Max D., Danko, Melissa E., Rodrigues Dantas, Joao Alberto, Daoust, Isabelle, Dauwe, Dieter F., Davidson, Mark, Davis, Joel C., Davis, Mitchell, D’Cunha, Jonathan, de Arruda Bravim, Bruno, de BoodeKim T. De La Cruz, Willem P., Gray DeAngelis, Kathryn, Debeuckelaere, Gerdy, Deitemyer, Matthew A., DellaVolpe, Jeffrey, Deneau, Jamie L., DeNino, Walter F., Denmark, Christopher G., Denney, Derek, DeValeria, Patrick A., Dewulf, Petra, Di Nardo, Matteo, DiBardino, Daniel J., DiMartino, Joseph, Dimopoulos, Stavros, Domico, Michele B., Dominy, Meaghan E., Donker, Dirk W., Dresbach, Till, Droogh, Joep M., Dunlap, Tiffany W., Dupon, Allsion, Durham, Lucian A., III, Durward, Andrew, Dvorak, Anna, Dyett, John F., Dziedzina, Carol L., Eaken, Carmen L., Eaton, Jonathan S., Eberle, Christopher J., Edwards, Linda, Efseviou, Christakis, Eigner, Juliann M., Ahmed Elhamrawi, Hazem, Elhazmi, Alyaa M., Elizondo, Tammy, Ellersick, Beverly L., Emling, Jonathan A., Ernst, Andreas, Pablo Escalante, Juan, Espinoza, Otoniel, Evey, Lee W., Fan, Eddy, Fang, Gary, Faulkner, Gail M., Fauman, Karen R, Ferguson, Niall, Ferreira, Benigno, Fiane, Arnt E., Andrade Fierro, Dario, Martha Filippi, María, Findeisen, Michael C., Finlay, Katie, Finlayson, Gordon, Fischer, Gwenyth A., Fischer, Courtney D., Fischer, William J., III, Fisher, Caleb M., Fitriasari, Reni, Fitzgerald, Jillian, Fix, Melissa K., Fleming, Sarah B., Flynn, Brigid C., Forst, Beth A., Fortuna, Philip P., Foti, Giuseppe, Fox, Matthew P., Franco, Thais O., David Freeland, C., Fried, Justin A., Friedman, Matthew L., Furlanetto, Beatriz, Fux, Thomas, Gaião, Sérgio, Gale, Michael J., Garcia, Joann Kathleen G., Garcia-Montilla, Romel, Gardner, Eric R., Garg, Meena, Garrison, Lawrence L., Gavrilovic, Srdjan M., Gawda, Ryszard, Geer, Laura W., Gelandt, Elton A., Gelvin, Michael G., Genovese, Bradley M., George, Jeffrey A., George, Timothy J, George, Sangley, Ghimire, Anup, Giani, Marco, Gill, Baljit S., Glikes, Erin, Golecki, Michael, Gongora, Enrique, Govener, Sara, Graf, Amanda, Grasselli, Giacomo, Gray, Brian W., Greenlee, Joseph A., III, Gregoric, Igor D., Gregory, Melinda, Grins, Edgars, Volker Groesdonk, Heinrich, Group, Kimberly F., Guarracino, Fabio, Joy Guidi-Solloway, Alexandra, Gunn, Tyler M., Guru, Pramod K, Haddle, John C., Haft, Jonathan W., Haisz, Emma, Hall, Julie L., Hall, Cameron, Hamaguchi, Jun, Hammond, Terese C., Han, Peggy K., Hardison, Daphne C., Harischandra, Dickwelle T., Hart, Shaun M., Harting, Matthew T., Hartley, Louise, Harvey, Chris J., Hasan, Zubair, Fawzy Hassan, Ibrahim, Hastings, Jennifer R., Hatcher, Renee’, Hatton, Kevin W., Haught, Christopher K., Awori Hayanga, Jeremiah, Peter Haydon, Timothy, Healy, Aaron H., Heard, Micheal L., Heather, Beth M., Hendrix, Rik H.J., Hennig, Felix, Hermens, Greet HermansJeannine A.J., Hernandez, Deborah A., Hernandez-Montfort, Jaime, Herrera, Guillermo, Hickman, Keri, Hittel, Ashley, Hobbs, Crystal, Hoffman, Jordan R.H., Hollinger, Laura E., Homishak, Michael, Horigoshi, Nelson K., Hoshino, Kota, Huang, Shu-Chien, Huenges, Katharina, Hussey, Alexander D., Hyslop, Robert W., Ihle, Rayan E., Ingemansson, Ola, Ivulich, Daniel, Jackson, Amanda L., Garcia Jacques, Rogelio, Jain, Harsh, Jakobs, Sharon M., Jan, Robert, Janowiak, Lisa M., Jara, Claire B., Jarden, Angela M., Jarzembowski, Jamie L., Jaudon, Andrew, Kishore Jayanthi, Venkata Krishna, Jennings, Joseph A., Jeong, Inseok, Meza Jiménez, Rafael, Jimenez-Rodriguez, Gian M., Joachim, Sabrina, Joelsons, Daniel, Johnson, Caroline A., Johnson, Andrea L., Jones, Jeffry H., Joseph, Mark, Joseph, Sunimol, Joshi, Raja, Joyce, Christopher J., Seung Jung, Jae, Carone Junior, José, Kallas, Harry J., KamerkarPilje Kang, Asavari, Kar, Biswajit, Karapanagiotidis, Georgios T., Kattan, Javier, Kaufman, David A., Kawauchi, Akira, Keene, Sarah D., Keller, Norma M., Keller, Roberta, Kelley, Emily W., Kelley, Kellie, Kelly-Geyer, Janet F., Kenderessy, Peter, Kenny, Laura E., Keshavjee, Shaf, Kessel, D., Kessler, Heather, Keuler, Suzanne, Khicha, Sanjay, Wan Kim, Do, Kim, Richard Y., Maxwell Kime, Aaron, Kincade, Robert C., Kipfmueller, Florian, Kirk, Douglas A., Klein, Liviu, Knapp, Randall S., Knapp, Randall S., Kneyber, Martin C.J., Knowles, Andrea L., Koch, Jillian M., Koepke, Stephanie, Kogelmann, Klaus M., Elzo Kraemer, Carlos, Krauklis, Amanda, Krumroy, Samantha L., Kumar, Madhan, Kumar, Arun, Kumpf, Matthias E, Kyle, Kimberly, Laffin, Anna, Kees Lagrand, Wim, Lahiji, Parshawn A., Keung Lai, Peter Chi, Ka Lai, Cally Ho, Danielle Laird, Amanda, Landsberg, Michelle LaMarreDavid M., Lanmueller, Pia, Oude Lansink-Hartgring, Annemieke, Beth Larson, Sharon, Laufenberg, De’Ann M., Lavana, Jayshree, Layne, Tracie L., John Lazar, Michael, Ledoux, Matthew R., Lee, Raymond C., Leek, Thomas M., Lequier, Laurance, Lesbekov, Timur, Leslie, Robert, Anne Leung, Kit Hung, Lillie, Jon, Phang Lim, Yeong, Lim, Sang-Hyun, Lin, Ling, Lindsey, Thomas, Ho Ling, Steven Kin, Lingle, Kaitlyn J., Lipes, Jed, Liu, Songqiao, Llevadias, Judit, Lomas, Erin A., Longenecker, Robert D., Lorusso, Roberto, Ann Low, Tracy, Steven Lubinsky, Anthony, Lucas, Matthias LubnowMark T., Lucchini, Alberto, Luze, Lisa E., Lynch, William R., Manoj, M.C., Maas, Jacinta J., MacNamara, Vanessa, Madden, Jesse L., Maimone, Justin, Malhotra, Rajiv, Malone, Matthew P., Mangukia, Chirantan, Manzur-Sandoval, Daniel, Maráczi, Veronika, Marinaro, Jonathan L., Marinucci, Christina R., Marshall, Tammy, Martin, Mark, Marwali, Eva M., Maslach-Hubbard, Anna, Matijašević, Jovan, Mattke, Adrian, Mattucci, Joseph, Maul, Timothy M., Maybauer, Marc O., Mayette, Michael, Mayville, Joni R., McAllister, Catherine, McBride, Martha W., Scott McCaul, David, McClelland, Samantha L.S., Gregory McCloskey, Colin, McGregor, Randy, McKamie, Wesley A., McKee, Andrew D., McMahon, Chelsea M., McMullin, Kaye, McNicol, Jane, McNulty, John P., McRae, Thomas, Meade, Maureen E., Meersseman, Philippe, Mekeirele, Michael, Ito Mendes, Elisa, Menon, Anuradha P., Meyer, Jason P., Meyers, Jourdan E., Meyns, Bart, Mignone, John L., Miller, Brittany D., Miller, Malcolm G.A., Miller, Deborah, Mintak, Renee, Minter, Sarah M., Reis Miranda, Dinis, Mirza, Farrukh, Mishkin, Joseph D., Modelewski, Paul, Mohan, Rajeev C., Hui Mok, Yee, Money, Dustin, Monteagudo, Julie, Moores, Russell R., Jr., Moran, Patrick, Morelock, Shawn, Moreno, Marsha R., Blanco Morillo, Juan, Morrison, Tracy, Morton, John M., Morton, Brenda, Moscatelli, Andrea, Mosier, Jarrod M., Muellenbach, Ralf M., Mueller, Andreas, Mueller, Dale, Musca, Steven C., Nagpal, Dave, Najaf, Tasnim, Narasimhan, Mangala, Nater, Melissa, Natividad, Zynthia, Nedeljkov, Djordje, Nelson, Bryan D., Newman, Sally F., Newton, Debra E., Neyman, Jonathan L., George Ng, Wing Yiu, Nicholson, Meghan C., Nicolaas, Christine, Nix, Charlie, Nkwantabisa, Raymond, Nolan, Shirley, Norese, Mariano, Norton, Bridget M., Norton, Bridget M., O’Brien, Serena G., O’Callaghan, Maura, Oishi, Peter, O’Leary, Tony D., Olia, Salim E., O’Meara, Carlisle, Oppel, Emily E., Arias Ortiz, Julian, Oza, Pranay L., Ozment, Caroline P., Pacific, Marjorie, Pálizas, Fernando, Palmer, David, Paoletti, Luca, Pardo, Diego H., Paredes, Pablo, Patel, Thomas PasgaardMrunal G., Patel, Sandeep M., Patel, Vijay S., Patel, Brijesh V., PatelDrisya Paul, Sameer, Pawale, Amit A., Pearson, Nicole M., Renee Pearson, Crystal, Peek, Giles J., Pellecchia, Crescens M., Pellegrino, Vincent, Peperstraete, Harlinde, Perkins, Rebecca L., Perkins, Brandon, Peterec, Steven, Peterman, Claire, Phillips, Cooper W., Piekutowski, Richard R., Pilan, María L., Luisa Pilan, Maria, Mark Pincus, Jason, Pino, Melissa, Plambeck, Robert W., Plisco, Michael S., Plumley, Donald A., Plunkett, Mark D., Poffo, Robinson, Poh, Pei-Fen, Polito, Angelo, Pollema, Travis L, Pozzi, Matteo, Pozzi, Matteo, Pranikoff, Thomas, Prekker, Matthew E., Prossen, Erik F., Puligandla, Pramod S., Puslecki, Mateusz, Raheel Qureshi, Muhammad, Emilia Rabanal, Lily, Abdulhamid Rabie, Ahmed, Rackley, Craig R., Radovancevic, Rajko, Raes, Matthias, Allen Raff, Lauren Desiree, Rahban, Youssef, Raimer, Patricia L., Rajbanshi, Bijoy G., Ramanan, Raj, Rambaud, Jerome, Ramírez-Arce, Jorge A., Simões Ramos, Ana Carolina, Rao, Suresh G., Rector, Raymond, Redfors, Bengt, Regmi, Ashim, Alejandro Rey, Jose, Miguel Ribeiro, Joao, Richards, Chelsea E, Joan Richardson, C., Riddle, Christy C., Riera, Jordi, Ripardo, Marina, Rivas, Fernando M., Roan, Ronald M., Robertson, Elizabeth, Robinson, Megan, Röder, Daniel, Rodrigus, Inez E.R., Paul Roeleveld, Peter, Romano, Jennifer C., Rona, Roberto, Ann Rosenberg, Carol, Rosenow, Felix, Rowe, Robert J., Rower, Katy E., Rudolph, Kristina L., Fernando Rueda, Luis, Ruf, Bettina, Russell, Hyde M., Russell, Nichole, Ryan, Kathleen, Saberi, Asif A., Said, Ahmed S., Sailor, Caitlin, Sakal, Angela, Lujan Salas, Gisela, Salazar, Leonardo, Saleem, Kashif, Samoukovic, Gordan, Sanchez, Pablo G., Marie Santiago, Lian, Sargin, Murat, Miguel Sassine, Assad, Satou, Nancy L., Saunders, Paul C., Schachinger, Scott, Schaible, Thomas, Schellongowski, Peter, Schlager, Gerald W., Schmid, Christof, Schmitt, Joachim, Schnell, LeeAndra, Schnur, Janos, Schroeder, Lukas, Schubach, Scott, Schuetz, Michael T., Schwartz, Gary S., Schwarz, Patricia, Scriven, Nicole M., Seabrook, Ruth B., Seefeldt, Cassandra, Seelhammer, Troy G., Segura-Matute, Susana, Sen, Ayan, Adrian Seoane, Leonardo, Shaffer, Jamie, Shafi, Bilal M., Shambley, Shannon, Shankar, Shyam, Shapland, Amanda, Sharng, Yih, Shavelle, David, Sheldrake, Jayne, Mohan Shetty, Rajesh, Shiber, Joseph R., Shimzu, Naoki, Lou Short, Billie, Sichting, Kay A., Sidehamer, Keith E., Siebenaler, Teka, Silvestry, Scott C., Sinclair, Jennifer T, Sinclair, Andrew, Singh, Aalok R., Singh, Gurmeet, Skinner, Sean C., Smart, Alexandra, Smith, Reanna M., Smith, Adam, Smith, Karen, Sommer-Candelario, Sherri, Song, Seunghwan, Sorensen, Gro, Sousa, Eduardo, Sower, Christopher T., Spadea, Nicholas V, Spangle, April, Speicher, David G., Spieth, Peter M., Srivastava, Ankur, Srivastava, Neeraj, Stahl, Mark, Stallkamp, Eric D., Jr, Stanley, Vanessa J., Starr, Joanne P., Staudinger, Thomas, Stevens, Berkeley E., Stevens, Kimberly, Stocker, Christian, Strickland, Richard, Suarez, Erik E., Kumar Subramanian, Rakesh, Sudakevych, Serhii, Summerall, Charlene, Sundararajan, Santosh, Susupaus, Attapoom, Suzuki, Hiroyuki, Sweberg, Todd, Sydzyik, Troy, Anh Ta, Tuan, Tagliari, Luciana, Tanaka, Hiroyuki, Tanski, Christopher T., Tasset, Mark, Taylor, Donna M., Teman, Nicholas R., Ramesh Thangaraj, Paul, Thiagarajan, Ravi R., Thiruchelvam, Timothy, Thomas, James A., Thomas, Owain D., Thompson, Shaun L., Thomson, David A., Thukaram, Roopa, Todd, Mark L., Toeg, Hadi, Torres, Silvio F., Trautner, Simon, Trombino, Terry, Tuazon, Divina M., Tuel, Julie, Tukacs, Monika, Turner, April N., Tyree, Melissa M., Uchiyama, Prashant Vaijyanath, Makoto, van den Brule, Judith M.D., van Dyck, Marlice A., van Gijlswijk, Mascha, Van Meurs, Krisa P., VanDyck, Tyler J., Vardi, Amir, Vega, Alejandra, Ventetuolo, Corey E., Vera, Magdalena, Vercaemst, Leen, Vets, Philippe, Viamonte, Heather, Vidlund, Mårten, Vitali, Sally H., Vlaa, Alexander P.J., Vuylsteke, Alain, Loon Wan, Kah, Watkins, Reuben, Watson, Pia, Weast, Travis A., Weaver, Karen E., Welkovics, Norbert, Wellner, Heidi L., Wells, Jason C., Welter, Karen, Westpheling, Amber G., Whalen, Lesta D.S., Whebell, Stephen, Wiersema, Ubbo, Wiisanen, Matthew E., Eugene Wilcox, Bradley, Wille, Keith, Jan Will, Ellyne, Wilson, Brock J., Win, April M., Winearls, James R., Wise, Linda J., Witter, Tobias, Ruby Wong, Hoi Mei, Worku, Berhane, Wright, Tina M, Wu, James K., Yalon, Larissa A., Yantosh, Garrett, Yaranov, Dmitry M., Yee, Pat, Yi, Cassia, Yost, Christian C., Young, John, Younger, Katrina, Zaborowski, Steven, Zachmann, Brenda, Zainab, Asma, Zanai, Rosanna, Zhao, Ju, Zhou, Chengbin, and Zinger, Marcia

Published
2024
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15. Deep learning from wristband sensor data: towards wearable, non-invasive seizure forecasting

Author

Meisel, Christian, Atrache, Rima El, Jackson, Michele, Schubach, Sarah, Ufongene, Claire, and Loddenkemper, Tobias

Subjects
Quantitative Biology - Neurons and Cognition, Electrical Engineering and Systems Science - Signal Processing
Abstract

Seizure forecasting may provide patients with timely warnings to adapt their daily activities and help clinicians deliver more objective, personalized treatments. While recent work has convincingly demonstrated that seizure risk assessment is possible, these early approaches relied largely on complex, often invasive setups including intracranial electrocorticography, implanted devices and multi-channel EEG, which limits translation of these methods to broad clinical application. To facilitate broader adaptation of seizure forecasting in clinical practice, non-invasive, easily applicable techniques that reliably assess seizure risk, in combination with clinical information, are crucial. Wristbands that continuously record physiological parameters, including electrodermal activity, body temperature, blood volume pressure and actigraphy, may afford monitoring of autonomous nervous system function and movement relevant for such a task, hence minimizing potential complications associated with invasive monitoring, and avoiding stigma associated with bulky external monitoring devices on the head. Here, we use deep learning to analyze long-term, multi-modal wristband sensor data from 50 patients with epilepsy (total duration $>$1400 hours) to assess its capability to distinguish preictal from interictal states. Prediction performance is assessed using area under the receiver operating charateristic (AUC) and improvement over chance (IoC) based on F1 scores. Using one- and two-dimensional convolutional neural networks, we identified better-than-chance predictability in out-of-sample test data in 60\% of the patients in leave-one-out and 43\% of patients in pseudo-prospective approaches. These results provide a step towards developing easier to apply, non-invasive methods for seizure risk assessments in patients with epilepsy.

Published
2019

16. A novel Sporothrix brasiliensis genomic variant in Midwestern Brazil: evidence for an older and wider sporotrichosis epidemic.

Author

Eudes Filho, João, Santos, Isabele Barbieri Dos, Reis, Carmélia Matos Santiago, Patané, José Salvatore Leister, Paredes, Verenice, Bernardes, João Paulo Romualdo Alarcão, Poggiani, Sabrina Dos Santos Costa, Castro, Talita de Cássia Borges, Gomez, Oscar Mauricio, Pereira, Sandro Antonio, Schubach, Edvar Yuri Pacheco, Gomes, Kamila Peres, Mavengere, Heidi, Alves, Lucas Gomes de Brito, Lucas, Joaquim, Paes, Hugo Costa, Albuquerque, Patrícia, Cruz, Laurício Monteiro, McEwen, Juan G, Stajich, Jason E, Almeida-Paes, Rodrigo, Zancopé-Oliveira, Rosely Maria, Matute, Daniel R, Barker, Bridget M, Felipe, Maria Sueli Soares, Teixeira, Marcus de Melo, and Nicola, André Moraes

Subjects
Sporothrix, Sporothrix brasiliensis, Sporothrix schenckii, Brasília, sporotrichosis, zoonotic transmission, Sporothrix, Sporothrix brasiliensis, Sporothrix schenckii, Microbiology
Abstract

Sporotrichosis is a subcutaneous infection caused by fungi from the genus Sporothrix. It is transmitted by inoculation of infective particles found in plant-contaminated material or diseased animals, characterizing the classic sapronotic and emerging zoonotic transmission, respectively. Since 1998, southeastern Brazil has experienced a zoonotic sporotrichosis epidemic caused by S. brasiliensis, centred in the state of Rio de Janeiro. Our observation of feline sporotrichosis cases in Brasília (Midwestern Brazil), around 900 km away from Rio de Janeiro, led us to question whether the epidemic caused by S. brasiliensis has spread from the epicentre in Rio de Janeiro, emerged independently in the two locations, or if the disease has been present and unrecognized in Midwestern Brazil. A retrospective analysis of 91 human and 4 animal cases from Brasília, ranging from 1993 to 2018, suggests the occurrence of both sapronotic and zoonotic transmission. Molecular typing of the calmodulin locus identified S. schenckii as the agent in two animals and all seven human patients from which we were able to recover clinical isolates. In two other animals, the disease was caused by S. brasiliensis. Whole-genome sequence typing of seven Sporothrix spp. strains from Brasília and Rio de Janeiro suggests that S. brasiliensis isolates from Brasília are genetically distinct from those obtained at the epicentre of the outbreak in Rio de Janeiro, both in phylogenomic and population genomic analyses. The two S. brasiliensis populations seem to have separated between 2.2 and 3.1 million years ago, indicating independent outbreaks or that the zoonotic S. brasiliensis outbreak might have started earlier and be more widespread in South America than previously recognized.

Published
2020

17. lentiMPRA and MPRAflow for high-throughput functional characterization of gene regulatory elements.

Author

Gordon, M Grace, Inoue, Fumitaka, Martin, Beth, Schubach, Max, Agarwal, Vikram, Whalen, Sean, Feng, Shiyun, Zhao, Jingjing, Ashuach, Tal, Ziffra, Ryan, Kreimer, Anat, Georgakopoulos-Soares, Ilias, Yosef, Nir, Ye, Chun Jimmie, Pollard, Katherine S, Shendure, Jay, Kircher, Martin, and Ahituv, Nadav

Subjects
Lentivirus, Sequence Analysis, DNA, Base Sequence, Regulatory Sequences, Nucleic Acid, Workflow, Biotechnology, Human Genome, Genetics, Generic health relevance, Bioinformatics, Chemical Sciences, Biological Sciences, Medical and Health Sciences
Abstract

Massively parallel reporter assays (MPRAs) can simultaneously measure the function of thousands of candidate regulatory sequences (CRSs) in a quantitative manner. In this method, CRSs are cloned upstream of a minimal promoter and reporter gene, alongside a unique barcode, and introduced into cells. If the CRS is a functional regulatory element, it will lead to the transcription of the barcode sequence, which is measured via RNA sequencing and normalized for cellular integration via DNA sequencing of the barcode. This technology has been used to test thousands of sequences and their variants for regulatory activity, to decipher the regulatory code and its evolution, and to develop genetic switches. Lentivirus-based MPRA (lentiMPRA) produces 'in-genome' readouts and enables the use of this technique in hard-to-transfect cells. Here, we provide a detailed protocol for lentiMPRA, along with a user-friendly Nextflow-based computational pipeline-MPRAflow-for quantifying CRS activity from different MPRA designs. The lentiMPRA protocol takes ~2 months, which includes sequencing turnaround time and data processing with MPRAflow.

Published
2020

18. A novel Sporothrix brasiliensis genomic variant in Midwestern Brazil: evidence for an older and wider sporotrichosis epidemic

Author

Filho, João Eudes, dos Santos, Isabele Barbieri, Reis, Carmélia Matos Santiago, Patané, José Salvatore Leister, Paredes, Verenice, Bernardes, João Paulo Romualdo Alarcão, dos Santos Costa Poggiani, Sabrina, de Cássia Borges Castro, Talita, Gomez, Oscar Mauricio, Pereira, Sandro Antonio, Schubach, Edvar Yuri Pacheco, Gomes, Kamila Peres, Mavengere, Heidi, de Brito Alves, Lucas Gomes, Lucas, Joaquim, Paes, Hugo Costa, Albuquerque, Patrícia, Cruz, Laurício Monteiro, McEwen, Juan G, Stajich, Jason E, Almeida-Paes, Rodrigo, Zancopé-Oliveira, Rosely Maria, Matute, Daniel R, Barker, Bridget M, Felipe, Maria Sueli Soares, de Melo Teixeira, Marcus, and Nicola, André Moraes

Subjects
Microbiology, Biological Sciences, Biomedical and Clinical Sciences, Clinical Sciences, Infection, Good Health and Well Being, Adolescent, Adult, Aged, Aged, 80 and over, Animals, Brazil, Calmodulin, Cats, Child, Child, Preschool, Cross-Sectional Studies, Dogs, Evolution, Molecular, Female, Genome, Fungal, High-Throughput Nucleotide Sequencing, Humans, Infant, Male, Middle Aged, Molecular Typing, Phylogeny, Sporothrix, Sporotrichosis, Whole Genome Sequencing, Young Adult, Zoonoses, sporotrichosis, Sporothrix brasiliensis, Sporothrix schenckii, zoonotic transmission, Bras&#237, lia, Sporothrix, Sporothrix brasiliensis, Sporothrix schenckii, Brasília, Clinical sciences, Epidemiology
Abstract

Sporotrichosis is a subcutaneous infection caused by fungi from the genus Sporothrix. It is transmitted by inoculation of infective particles found in plant-contaminated material or diseased animals, characterizing the classic sapronotic and emerging zoonotic transmission, respectively. Since 1998, southeastern Brazil has experienced a zoonotic sporotrichosis epidemic caused by S. brasiliensis, centred in the state of Rio de Janeiro. Our observation of feline sporotrichosis cases in Brasília (Midwestern Brazil), around 900 km away from Rio de Janeiro, led us to question whether the epidemic caused by S. brasiliensis has spread from the epicentre in Rio de Janeiro, emerged independently in the two locations, or if the disease has been present and unrecognized in Midwestern Brazil. A retrospective analysis of 91 human and 4 animal cases from Brasília, ranging from 1993 to 2018, suggests the occurrence of both sapronotic and zoonotic transmission. Molecular typing of the calmodulin locus identified S. schenckii as the agent in two animals and all seven human patients from which we were able to recover clinical isolates. In two other animals, the disease was caused by S. brasiliensis. Whole-genome sequence typing of seven Sporothrix spp. strains from Brasília and Rio de Janeiro suggests that S. brasiliensis isolates from Brasília are genetically distinct from those obtained at the epicentre of the outbreak in Rio de Janeiro, both in phylogenomic and population genomic analyses. The two S. brasiliensis populations seem to have separated between 2.2 and 3.1 million years ago, indicating independent outbreaks or that the zoonotic S. brasiliensis outbreak might have started earlier and be more widespread in South America than previously recognized.

Published
2020

19. Psychological, social, and sexual challenges affecting men receiving male infertility treatment: a systematic review and implications for clinical care

Author

Winston Wu, Justin La, Kathryn M Schubach, Daniel Lantsberg, and Darren J Katz

Subjects
male infertility, male infertility treatment, patient experience, patient-centered care, psychosocial, sexual, Diseases of the genitourinary system. Urology, RC870-923
Abstract

In recent years, social research surrounding the consequences of infertility has increasingly focused on the male perspective; however, a gap exists in the understanding of men's experiences of male infertility treatment. This review aims to synthesize the existing evidence concerning the psychological, social, and sexual burden of male infertility treatment on men, as well as patient needs during clinical care. A systematic search identified 12 studies that are diverse in design, setting, and methods. Psychological evaluations have found that urological surgery may have a lasting impact on infertility-specific stress, and treatment failure can lead to feelings of depression, grief, and inadequacy. Men tended to have an avoidant coping mechanism throughout fertility treatment, and their self-esteem, relationship quality, and sexual functions can be tied to outcomes of treatment. Partner bonds can be strengthened by mutual support and enhanced communication; couple separation, however, has been noted as a predominant reason for discontinuing male infertility treatment and may be associated with difficult circumstances surrounding severe male infertility. Surgical treatments can affect the sexual functioning of infertile men; however, the impact of testicular sperm extraction outcomes appears to be psychologically driven whereas the improvements after microsurgical varicocelectomy are only evident in hypogonadal men. Clinically, there is a need for better inclusion, communication, education, and resource provision, to address reported issues of marginalization and uncertainty in men. Routine psychosocial screening in cases of severe male infertility and follow-up in cases of surgical treatment failure are likely beneficial.

Published
2023
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24. A Randomized Clinical Trial Comparing Itraconazole and a Combination Therapy with Itraconazole and Potassium Iodide for the Treatment of Feline Sporotrichosis

Author

Erica Guerino dos Reis, Sandro Antonio Pereira, Luisa Helena Monteiro de Miranda, Raquel de Vasconcellos Carvalhaes de Oliveira, Marcel de Souza Borges Quintana, Paula Gonçalves Viana, Anna Barreto Fernandes Figueiredo, Cindy Caroline dos Santos Honorato, Gabriela Reis Pereira-Oliveira, Jéssica Nunes Silva, Tânia Maria Pacheco Schubach, and Isabella Dib Ferreira Gremião

Subjects
sporotrichosis, Sporothrix, cats, itraconazole, potassium iodide, treatment, Biology (General), QH301-705.5
Abstract

Feline sporotrichosis is an endemic disease with high occurrence in Brazil. Itraconazole (ITZ) remains the drug of choice for treating this disease in cats, despite the increasing reports of therapeutic failure. A controlled, randomized clinical trial was performed on 166 naive cats with sporotrichosis to assess the effectiveness and safety of the combination therapy with ITZ and potassium iodide (KI) compared with ITZ monotherapy. Cats were randomly allocated into two treatment groups: G1—ITZ 100 mg/cat/day—and G2—ITZ 100 mg/cat/day + KI 2.5–20 mg/kg/day. Cats treated in G2 presented 77% more risk of reaching a clinical cure (a positive effect) than those treated in G1, even when controlled by negative predictors. The survival curves of the two treatment protocols indicate that a clinical cure was achieved faster in G2. An increase in the KI dose was necessary in 28 cats due to the persistence of clinical signs. Adverse reactions were equally frequent in both groups and manageable with a temporary drug suspension and/or a hepatoprotective therapy. The combination therapy was associated with a higher cure rate and a shorter treatment time, suggesting that ITZ+KI arises as a better option for treating feline sporotrichosis and should be considered the first-line treatment, especially in the presence of negative predictors.

Published
2024
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25. Leishmaniose tegumentar americana

Author

Schubach, Armando de Oliveira, primary, Rosalino, Cláudia Maria Valete, additional, Lyra, Marcelo Rosandiski, additional, Duque, Maria Cristina de Oliveira, additional, Pimentel, Maria Inês Fernandes, additional, and Marzochi, Mauro Célio de Almeida, additional

Published
2022
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26. Integration of multiple epigenomic marks improves prediction of variant impact in saturation mutagenesis reporter assay

Author

Shigaki, Dustin, Adato, Orit, Adhikari, Aashish N, Dong, Shengcheng, Hawkins‐Hooker, Alex, Inoue, Fumitaka, Juven‐Gershon, Tamar, Kenlay, Henry, Martin, Beth, Patra, Ayoti, Penzar, Dmitry D, Schubach, Max, Xiong, Chenling, Yan, Zhongxia, Boyle, Alan P, Kreimer, Anat, Kulakovskiy, Ivan V, Reid, John, Unger, Ron, Yosef, Nir, Shendure, Jay, Ahituv, Nadav, Kircher, Martin, and Beer, Michael A

Subjects
Biological Sciences, Bioinformatics and Computational Biology, Genetics, Human Genome, Aetiology, 2.1 Biological and endogenous factors, Generic health relevance, Binding Sites, Cell Line, Chromatin, DNA, Enhancer Elements, Genetic, Epigenomics, Genetic Predisposition to Disease, Humans, Machine Learning, Point Mutation, Promoter Regions, Genetic, Transcription Factors, enhancers, gene regulation, machine learning, MPRA, promoters, regulatory variation, Clinical Sciences, Genetics & Heredity, Clinical sciences
Abstract

The integrative analysis of high-throughput reporter assays, machine learning, and profiles of epigenomic chromatin state in a broad array of cells and tissues has the potential to significantly improve our understanding of noncoding regulatory element function and its contribution to human disease. Here, we report results from the CAGI 5 regulation saturation challenge where participants were asked to predict the impact of nucleotide substitution at every base pair within five disease-associated human enhancers and nine disease-associated promoters. A library of mutations covering all bases was generated by saturation mutagenesis and altered activity was assessed in a massively parallel reporter assay (MPRA) in relevant cell lines. Reporter expression was measured relative to plasmid DNA to determine the impact of variants. The challenge was to predict the functional effects of variants on reporter expression. Comparative analysis of the full range of submitted prediction results identifies the most successful models of transcription factor binding sites, machine learning algorithms, and ways to choose among or incorporate diverse datatypes and cell-types for training computational models. These results have the potential to improve the design of future studies on more diverse sets of regulatory elements and aid the interpretation of disease-associated genetic variation.

Published
2019

27. Saturation mutagenesis of twenty disease-associated regulatory elements at single base-pair resolution.

Author

Kircher, Martin, Xiong, Chenling, Martin, Beth, Schubach, Max, Inoue, Fumitaka, Bell, Robert JA, Costello, Joseph F, Shendure, Jay, and Ahituv, Nadav

Subjects
Cell Line, Humans, Disease, Cloning, Molecular, Computational Biology, Mutagenesis, Polymorphism, Single Nucleotide, Genomic Library, Genome, Human, Regulatory Elements, Transcriptional, High-Throughput Nucleotide Sequencing, Cloning, Molecular, Polymorphism, Single Nucleotide, Genome, Human, Regulatory Elements, Transcriptional
Abstract

The majority of common variants associated with common diseases, as well as an unknown proportion of causal mutations for rare diseases, fall in noncoding regions of the genome. Although catalogs of noncoding regulatory elements are steadily improving, we have a limited understanding of the functional effects of mutations within them. Here, we perform saturation mutagenesis in conjunction with massively parallel reporter assays on 20 disease-associated gene promoters and enhancers, generating functional measurements for over 30,000 single nucleotide substitutions and deletions. We find that the density of putative transcription factor binding sites varies widely between regulatory elements, as does the extent to which evolutionary conservation or integrative scores predict functional effects. These data provide a powerful resource for interpreting the pathogenicity of clinically observed mutations in these disease-associated regulatory elements, and comprise a rich dataset for the further development of algorithms that aim to predict the regulatory effects of noncoding mutations.

Published
2019

34. Gestaltungswissen und Werkzeuge: Betriebliche Erfahrungen mit Präventionsinstrumenten und überbetriebliche Konzepte

Author

Füchtenkötter, Manfred, Erfurth, Christian, Semm, Arlett, Wolf, Marcus, Lemanski, Sandra, Vitera, Jan, Muehlan, Holger, Drössler, Stephanie, Bretschneider, Maximilian, Magister, Selina, Zeiser, Maria, Kämpf, Daniel, Seidler, Andreas, Ehrlich, Martin, Engel, Thomas, Künzel, Laura, Haupold, Gitta, Schulze, Carola, Bauer, Thomas, Lerner, Peggy, Schubach, Jan, Hachmeister, Gisela, Schinke, Sylvio, Engel, Thomas, editor, Erfurth, Christian, editor, Drössler, Stephanie, editor, and Lemanski, Sandra, editor

Published
2021
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35. Sporotrichosis in the nasal mucosa: A single-center retrospective study of 37 cases from 1998 to 2020.

Author

Carlos Felipe Gomes Izoton, Antonio Xavier de Brito Sousa, Cláudia Maria Valete, Armando de Oliveira Schubach, Anna Carolina Procópio-Azevedo, Rosely Maria Zancopé-Oliveira, Priscila Marques de Macedo, Maria Clara Gutierrez-Galhardo, Julio Castro-Alves, Rodrigo Almeida-Paes, Ana Cristina da Costa Martins, and Dayvison Francis Saraiva Freitas

Subjects
Arctic medicine. Tropical medicine, RC955-962, Public aspects of medicine, RA1-1270
Abstract

BackgroundSporotrichosis is a subcutaneous or implantation mycosis caused by some species of the genus Sporothrix. Rio de Janeiro state, Brazil, experiences hyperendemic levels of zoonotic sporotrichosis, with increasing cases of disseminated disease, especially in people living with HIV (PLHIV). Involvement of the nasal mucosa is rare and occurs isolated or in disseminated cases, with a delayed resolution.Methodology/principal findingsThis study aimed to describe the epidemiological, clinical, and therapeutic profiles of 37 cases of sporotrichosis with involvement of the nasal mucosa treated at the ear, nose, and throat (ENT) outpatient clinic of the Instituto Nacional de Infectologia Evandro Chagas, Fundação Oswaldo Cruz, from 1998 to 2020. Data were reviewed from the medical records and stored in a database. The Mann-Whitney test was used to compare the means of quantitative variables, and Pearson chi-square and Fisher's exact tests were used to verify the association between qualitative variables (pConclusionsImmunosuppression was determinant to the outcome, with worse prognosis and lower probability of cure. Notably in this group, the systematization of the ENT examination for early identification of lesions is recommended to optimize the treatment and outcome of the disease.

Published
2023
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38. AB1263 THE JOINT VASCULITIS REGISTRY IN GERMAN-SPEAKING COUNTRIES (GEVAS) – SUBGROUP ANALYSIS OF 266 AAV-PATIENTS

Author

Arnold, S., primary, Wallmeier, P., additional, Tais, A., additional, Ihorst, G., additional, Janosche, M., additional, Schubach, F., additional, Aries, P. M., additional, Bergner, R., additional, Bremer, P., additional, Görl, N., additional, Gutdeutsch, E., additional, Hellmich, B., additional, Henes, J., additional, Hoyer, B., additional, Kangowski, A., additional, Kötter, I., additional, Krusche, M., additional, Magnus, T., additional, Metzler, C., additional, Müller-Ladner, U., additional, Petersen, J., additional, Reichelt de Tenorio, A., additional, Schaier, M., additional, Schirmer, J., additional, Schönermark, U., additional, Thiel, J., additional, Unger, L., additional, Venhoff, N., additional, Weinmann-Menke, J., additional, Iking-Konert, C., additional, and Lamprecht, P., additional

Published
2024
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39. The Joint Vasculitis Registry in German-speaking countries (GeVas): subgroup analysis of 195 GCA patients

Author

Wallmeier, Pia, primary, Arnold, Sabrina, additional, Tais, Arlette, additional, Ihorst, Gabriele, additional, Janoschke, Marco, additional, Schubach, Fabian, additional, Aries, Peer, additional, Bergner, Raoul, additional, Bremer, Jan Phillip, additional, Görl, Norman, additional, Gutdeutsch, Eva, additional, Hellmich, Bernhard, additional, Henes, Jörg, additional, Hoyer, Bimba Franziska, additional, Kangowski, Antje, additional, Kötter, Ina, additional, Krusche, Martin, additional, Magnus, Tim, additional, Metzler, Claudia, additional, Müller-Ladner, Ulf, additional, Schaier, Matthias, additional, Schönermarck, Ulf, additional, Thiel, Jens, additional, Unger, Leonore, additional, Venhoff, Nils, additional, Weinmann-Menke, Julia, additional, Petersen, Jana, additional, Lamprecht, Peter, additional, and Iking-Konert, Christof, additional

Published
2024
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40. What Is Rheumatoid Arthritis?

Author

Firestein, Gary S., primary, Gravallese, Ellen M., additional, Koscal, Natalie, additional, Ling, Emily, additional, Longo, Dan L., additional, Messenger, Lori A., additional, and Schubach, Abigail, additional

Published
2024
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43. Bayesian Optimization Improves Tissue-Specific Prediction of Active Regulatory Regions with Deep Neural Networks

Author

Cappelletti, Luca, Petrini, Alessandro, Gliozzo, Jessica, Casiraghi, Elena, Schubach, Max, Kircher, Martin, Valentini, Giorgio, Goos, Gerhard, Founding Editor, Hartmanis, Juris, Founding Editor, Bertino, Elisa, Editorial Board Member, Gao, Wen, Editorial Board Member, Steffen, Bernhard, Editorial Board Member, Woeginger, Gerhard, Editorial Board Member, Yung, Moti, Editorial Board Member, Rojas, Ignacio, editor, Valenzuela, Olga, editor, Rojas, Fernando, editor, Herrera, Luis Javier, editor, and Ortuño, Francisco, editor

Published
2020
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49. Is There Any Difference in the In Situ Immune Response in Active Localized Cutaneous Leishmaniasis That Respond Well or Poorly to Meglumine Antimoniate Treatment or Spontaneously Heal?

Author

Jéssica Leite-Silva, Carla Oliveira-Ribeiro, Fernanda Nazaré Morgado, Maria Inês Fernandes Pimentel, Marcelo Rosandiski Lyra, Aline Fagundes, Luciana Freitas Campos Miranda, Claudia Maria Valete-Rosalino, Armando Oliveira Schubach, and Fátima Conceição-Silva

Subjects
host-parasite interaction, immunopathology, cutaneous leishmaniasis, spontaneous healing, treatment relapse, in situ immune response, Biology (General), QH301-705.5
Abstract

Localized cutaneous leishmaniasis caused by Leishmania braziliensis can either respond well or poorly to the treatment or heal spontaneously; It seems to be dependent on the parasite and/or host factors, but the mechanisms are not fully understood. We evaluated the in situ immune response in eighty-two active lesions from fifty-eight patients prior to treatment classified as early spontaneous regression (SRL-n = 14); treatment responders (GRL-n = 20); and non-responders (before first treatment/relapse, PRL1/PRL2-n = 24 each). Immunohistochemistry was used to identify cell/functional markers which were correlated with the clinical characteristics. PRL showed significant differences in lesion number/size, clinical evolution, and positive parasitological examinations when compared with the other groups. SRL presented a more efficient immune response than GRL and PRL, with higher IFN-γ/NOS2 and a lower percentage of macrophages, neutrophils, NK, B cells, and Ki-67+ cells. Compared to SRL, PRL had fewer CD4+ Tcells and more CD163+ macrophages. PRL1 had more CD68+ macrophages and Ki-67+ cells but less IFN-γ than GRL. PRL present a less efficient immune profile, which could explain the poor treatment response, while SRL had a more balanced immune response profile for lesion healing. Altogether, these evaluations suggest a differentiated profile of the organization of the inflammatory process for lesions of different tegumentary leishmaniasis evolution.

Published
2023
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50. Descriptive analysis of the cases published in the Align® Global Gallery.

Author

da Costa BARRETO, Luísa Schubach, Cunha BITTENCOURT, Rafael, Barreto FERREIRA, Marcella, Sayão de PAULA, Sarah Braga, Trindade MATTOS, Cláudia, and Mendes MIGUEL, José Augusto

Subjects
ORTHODONTIC appliances, DENTAL care, MEDICAL protocols, WOMEN patients, ACCESS to information, MALOCCLUSION
Abstract

Copyright of Dental Press Journal of Orthodontics is the property of Dental Press International and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Published
2024
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