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1. Extracellular vesicle neurofilament light is elevated within the first 12-months following traumatic brain injury in a U.S military population

Author

Guedes, Vivian A., Lange, Rael T., Lippa, Sara M., Lai, Chen, Greer, Kisha, Mithani, Sara, Devoto, Christina, A. Edwards, Katie, Wagner, Chelsea L., Martin, Carina A., Driscoll, Angela E., Wright, Megan M., Gillow, Kelly C., Baschenis, Samantha M., Brickell, Tracey A., French, Louis M., and Gill, Jessica M.

Published
2022
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2. Are EPB41 and alpha-synuclein diagnostic biomarkers of sport-related concussion?Findings from the NCAA and Department of Defense CARE Consortium

Author

Vorn, Rany, Devoto, Christina, Meier, Timothy B., Lai, Chen, Yun, Sijung, Broglio, Steven P., Mithani, Sara, McAllister, Thomas W., Giza, Christopher C., Kim, Hyung-Suk, Huber, Daniel, Harezlak, Jaroslaw, Cameron, Kenneth L., McGinty, Gerald, Jackson, Jonathan, Guskiewicz, Kevin M., Mihalik, Jason P., Brooks, Alison, Duma, Stefan, Rowson, Steven, Nelson, Lindsay D., Pasquina, Paul, McCrea, Michael A., and Gill, Jessica M.

Published
2022
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7. Plasma phosphorylated tau181 as a biomarker of mild traumatic brain injury: findings from THINC and NCAA-DoD CARE Consortium prospective cohorts

Author

Devoto, Christina, primary, Vorn, Rany, additional, Mithani, Sara, additional, Meier, Timothy B., additional, Lai, Chen, additional, Broglio, Steven P., additional, McAllister, Thomas, additional, Giza, Christopher C., additional, Huber, Daniel, additional, Harezlak, Jaroslaw, additional, Cameron, Kenneth L., additional, McGinty, Gerald, additional, Jackson, Jonathan, additional, Guskiewicz, Kevin, additional, Mihalik, Jason P., additional, Brooks, Alison, additional, Duma, Stefan, additional, Rowson, Steven, additional, Nelson, Lindsay D., additional, Pasquina, Paul, additional, Turtzo, Christine, additional, Latour, Lawrence, additional, McCrea, Michael A., additional, and Gill, Jessica M., additional

Published
2023
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8. 0734 Gender Differences in US Military Personnel with Insomnia, Obstructive Sleep Apnea & Comorbid Insomnia and Obstructive Sleep Apnea

Author

Mysliwiec, Vincent, primary, Brock, Matthew, additional, Matsangas, Panagiotis, additional, Pruiksma, Kristi, additional, Powell, Tyler, additional, Hansen, Shana, additional, Martin, Jennifer, additional, Taylor, Daniel, additional, Foster, Shannon, additional, Mithani, Sara, additional, Straud, Casey, additional, Young-McCaughan, Stacey, additional, Zwetzig, Sarah, additional, and Peterson, Alan, additional

Published
2023
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9. Mathematical Models of Sleep and Circadian Rhythms: A Case for Using the 2-Process Model in Neuroscience Nursing

Author

Mithani, Sara and Fink, Anne M.

Subjects
Circadian rhythms -- Research, Nursing -- Analysis, Health care industry
Abstract

Acute and chronic neurological disorders impair sleep. Despite the availability of theoretical/ mathematical frameworks about sleep, the nursing profession rarely incorporates these models. The purpose of this article was to analyze the 2-process model of sleep regulation using Fawcett and DeSanto-Madeya's method, a systematic approach for determining whether a theory is relevant to nursing. The 2-process model has 3 concepts: process S (sleep-dependent process), process C (circadian-timing-dependent process), and total sleep propensity (summation of processes S and C). Nonnursing theories do not explicitly incorporate nursing metaparadigm concepts--person, health, environment, and nursing--but the 2-process model is congruent with nursing's philosophy. The model guided studies quantifying sleep and circadian patterns in other fields, and nurses could use this framework to measure the impact of nursing interventions. Strengths of the 2-process model include parsimony (conciseness without oversimplification) and the ability to empirically test propositions related to processes S and C. The 2-process model is relevant to neuroscience nursing--by measuring sleep/circadian-related variables (electroencephalogram, core body temperature, salivary melatonin). Nurses have opportunities to design, test, and use interventions that improve sleep in patients with neurological conditions.Keywords: neuroscience, nursing interventions, sleep, theory, 2-process model of sleep regulation, Patients with neurological conditions experience a variety of sleep disturbances. Neuroscience nurses are knowledgeable about patients' sleep-related complaints--including insomnia and excessive sleepiness-- and use interventions to improve sleep quality. There [...]

Published
2019
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10. Latin American Trans-ancestry INitiative for OCD genomics (LATINO): Study Protocol

Author

Crowley, James J, Cappi, Carolina, Ochoa-Panaifo, Marcos E, Frederick, Renee M, Kook, Minjee, Wiese, Andrew D, Rancourt, Diana, Atkinson, Elizabeth G, Giusti-Rodriguez, Paola, Anderberg, Jacey L, Abramowitz, Jonathan S, Adorno, Victor R, Aguirre, Cinthia, Alves, Gustavo S, Alves, Gilberto S, Ancalade, NaEshia, Arellano Espinosa, Alejandro A, Arnold, Paul D, Ayton, Daphne M, Barbosa, Izabela G, Barón Castano, Laura Marcela, Barrera, Cynthia N, Belén Prieto, María, Berardo, María Celeste, Berrones, Dayan, Best, John R, Bigdeli, Tim B, Burton, Christie L, Callahan, Jennifer L, Carneiro, Maria Cecília B, Cepeda, Sandra L, Chazelle, Evelyn, Chire, Jessica M, Churruca Munoz, Macarena, Claisse Quiroz, Pamela, Cobite, Journa, Comer, Jonathan S, Costa, Daniel L, Crosbie, Jennifer, Cruz, Victor O, Dager, Guillermo, Daza, Luisa F, de la Rosa-Gómez, Anabel, del Río, Daniela, Delage, Fernanda Z, Dreher, Carolina B, Fay, Lucila, Fazio, Tomas, Ferrão, Ygor A, Ferreira, Gabriela M, Figueroa, Edith G, Fontenelle, Leonardo F, Forero, Diego A, Fragoso, Daniele TH, Gadad, Bharathi S, Garrison, Sheldon R, González, Andres, Gonzalez, Laura D, González, Marco A, Gonzalez-Barrios, Polaris, Goodman, Wayne, Guintivano, Jerry, Guttfreund, Daniel G, Guzick, Andrew G, Halvorsen, Matthew W, Hovey, Joseph D, Janssen-Aguilar, Reinhard, Jensen, Matias, Jimenez Reynolds, Alexandra Z, Juárez Lujambio, Joali Alexandra, Khalfe, Nasim, Knutsen, Madison A, Lack, Caleb, Lanzagorta, Nuria, Lima, Monicke O, Longhurst, Melanie O, Lozada Martinez, David A, Luna, Elba S, Marques, Andrea H, Martinez, Molly, Matos, Maria de Los Angeles, Maye, Caitlyn E, McGuire, Joseph F, Menezes, Gabriela, Minaya, Charlene, Miño, Tomás, Mithani, Sara M, Montes de Oca, Circe, Morales-Rivero, Alonso, Moreira-de-Oliveira, Maria E, Morris, Olivia J, Muñoz, Sandra I, Naqqash, Zainab, Núñez Bracho, Ambar A, Núñez Bracho, Belinda E, Ochoa Rojas, Maria Corina, Olavarria Castaman, Luis A, Ortega, Iliana, Patel, Darpan I, Patrick, Ainsley K, Paz y Mino, Mariel, Perales Orellana, Jose L, Perdigão Stumpf, Bárbara, Peregrina, Tamara, Pérez Duarte, Tania, Piacsek, Kelly L, Placencia, Maritza, Quarantini, Lucas C, Quarantini-Alvim, Yana, Ramos, Renato T, Ramos, Iaroslava C, Ramos, Vanessa R, Ramsey, Kesley A, Ray, Elise V, Richter, Margaret A, Riemann, Bradley C, Rivas, Juan C, Rosario, Maria C, Ruggero, Camilo J, Ruiz-Chow, Angel A, Ruiz-Velasco, Alejandra, Sampaio, Aline S, Saraiva, Leonardo C, Schachar, Russell J, Schneider, Sophie C, Schweissing, Ethan J, Seligman, Laura D, Shavitt, Roseli G, Soileau, Keaton J, Stewart, S. Evelyn, Storch, Shaina B, Strouphauer, Emily R, Timpano, Kiara R, Treviño-de la Garza, Beatriz, Vargas-Medrano, Javier, Vásquez, María I, Vidal Martinez, Guadalupe, Weinzimmer, Saira A, Yanez, Mauricio A, Zai, Gwyneth, Zapata-Restrepo, Lina M, Zappa, Luz M, Zepeda-Burgos, Raquel M, Zoghbi, Anthony W, Miguel, Euripedes C, Rodriguez, Carolyn I, Martinez Mallen, Mayra C, Moya, Pablo R, Borda, Tania, Moyano, María Beatriz, Mattheisen, Manuel, Pereira, Stacey, Lázaro-Muñoz, Gabriel, Martinez-Gonzalez, Karen G, Pato, Michele T, Nicolini, Humberto, and Storch, Eric A

Subjects
Article
Abstract

Obsessive-compulsive disorder (OCD) is a debilitating psychiatric disorder. Worldwide, its prevalence is ~2% and its etiology is mostly unknown. Identifying biological factors contributing to OCD will elucidate underlying mechanisms and might contribute to improved treatment outcomes. Genomic studies of OCD are beginning to reveal long-sought risk loci, but >95% of the cases currently in analysis are of homogenous European ancestry. If not addressed, this Eurocentric bias will result in OCD genomic findings being more accurate for individuals of European ancestry than other ancestries, thereby contributing to health disparities in potential future applications of genomics. In this study protocol paper, we describe the Latin American Trans-ancestry INitiative for OCD genomics (LATINO, www.latinostudy.org ). LATINO is a new network of investigators from across Latin America, the United States, and Canada who have begun to collect DNA and clinical data from 5,000 richly-phenotyped OCD cases of Latin American ancestry in a culturally sensitive and ethical manner. In this project, we will utilize trans-ancestry genomic analyses to accelerate the identification of OCD risk loci, fine-map putative causal variants, and improve the performance of polygenic risk scores in diverse populations. We will also capitalize on rich clinical data to examine the genetics of treatment response, biologically plausible OCD subtypes, and symptom dimensions. Additionally, LATINO will help elucidate the diversity of the clinical presentations of OCD across cultures through various trainings developed and offered in collaboration with Latin American investigators. We believe this study will advance the important goal of global mental health discovery and equity.

Published
2023

12. Are EPB41 and alpha-synuclein diagnostic biomarkers of sport-related concussion? Findings from the NCAA and Department of Defense CARE Consortium

Author

Vorn, Rany, primary, Devoto, Christina, additional, Meier, Timothy B., additional, Lai, Chen, additional, Yun, Sijung, additional, Broglio, Steven P., additional, Mithani, Sara, additional, McAllister, Thomas W., additional, Giza, Christopher C., additional, Kim, Hyung-Suk, additional, Huber, Daniel, additional, Harezlak, Jaroslaw, additional, Cameron, Kenneth L., additional, McGinty, Gerald, additional, Jackson, Jonathan, additional, Guskiewicz, Kevin M., additional, Mihalik, Jason P., additional, Brooks, Alison, additional, Duma, Stefan, additional, Rowson, Steven, additional, Nelson, Lindsay D., additional, Pasquina, Paul, additional, McCrea, Michael A., additional, and Gill, Jessica M., additional

Published
2022
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13. A comprehensive evaluation of insomnia, obstructive sleep apnea and comorbid insomnia and obstructive sleep apnea in US military personnel

Author

Mysliwiec, Vincent, primary, Brock, Matthew S, additional, Pruiksma, Kristi E, additional, Straud, Casey L, additional, Taylor, Daniel J, additional, Hansen, Shana, additional, Foster, Shannon N, additional, Mithani, Sara, additional, Zwetzig, Sarah, additional, Gerwell, Kelsi, additional, Young-McCaughan, Stacey, additional, Powell, Tyler, additional, Blue Star, John A, additional, Cassidy, Daniel G, additional, Mintz, Jim, additional, and Peterson, Alan L, additional

Published
2022
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14. Are EPB41 and alpha-synuclein diagnostic biomarkers of sport-related concussion? Findings from the NCAA and Department of Defense CARE Consortium.

Author

Vorn, Rany, Devoto, Christina, Meier, Timothy B., Lai, Chen, Yun, Sijung, Broglio, Steven P., Mithani, Sara, McAllister, Thomas W., Giza, Christopher C., Kim, Hyung-Suk, Huber, Daniel, Harezlak, Jaroslaw, Cameron, Kenneth L., McGinty, Gerald, Jackson, Jonathan, Guskiewicz, Kevin M., Mihalik, Jason P., Brooks, Alison, Duma, Stefan, and Rowson, Steven

Subjects
SYNUCLEINS, BIOMARKERS
Abstract

• Feasibility of multiplexed blood-based protein levels in sport-related concussion. • Identify novel blood-based biomarkers for concussed athletes. • Dysregulation of blood-based proteins provides a better understanding of human response to injury. • EPB41 and alpha synuclein distinguish concussed athletes from non-concussed athletes. Current protein biomarkers are only moderately predictive at identifying individuals with mild traumatic brain injury or concussion. Therefore, more accurate diagnostic markers are needed for sport-related concussion. This was a multicenter, prospective, case-control study of athletes who provided blood samples and were diagnosed with a concussion or were a matched non-concussed control within the National Collegiate Athletic Association–Department of Defense Concussion Assessment, Research, and Education Consortium conducted between 2015 and 2019. The blood was collected within 48 h of injury to identify protein abnormalities at the acute and subacute timepoints. Athletes with concussion were divided into 6 h post-injury (0–6 h post-injury) and after 6 h post-injury (7–48 h post-injury) groups. We applied a highly multiplexed proteomic technique that used a DNA aptamers assay to target 1305 proteins in plasma samples from athletes with and without sport-related concussion. A total of 140 athletes with concussion (79.3% males; aged 18.71 ± 1.10 years, mean ± SD) and 21 non-concussed athletes (76.2% males; 19.14 ± 1.10 years) were included in this study. We identified 338 plasma proteins that significantly differed in abundance (319 upregulated and 19 downregulated) in concussed athletes compared to non-concussed athletes. The top 20 most differentially abundant proteins discriminated concussed athletes from non-concussed athletes with an area under the curve (AUC) of 0.954 (95% confidence interval: 0.922‒0.986). Specifically, after 6 h of injury, the individual AUC of plasma erythrocyte membrane protein band 4.1 (EPB41) and alpha-synuclein (SNCA) were 0.956 and 0.875, respectively. The combination of EPB41 and SNCA provided the best AUC (1.000), which suggests this combination of candidate plasma biomarkers is the best for diagnosing concussion in athletes after 6 h of injury. Our data suggest that proteomic profiling may provide novel diagnostic protein markers and that a combination of EPB41 and SNCA is the most predictive biomarker of concussion after 6 h of injury. [Display omitted] [ABSTRACT FROM AUTHOR]

Published
2023
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15. Proteomic Profiling of Plasma Biomarkers Associated With Return to Sport Following Concussion: Findings From the NCAA and Department of Defense CARE Consortium

Author

Vorn, Rany, primary, Mithani, Sara, additional, Devoto, Christina, additional, Meier, Timothy B., additional, Lai, Chen, additional, Yun, Sijung, additional, Broglio, Steven P., additional, McAllister, Thomas W., additional, Giza, Christopher C., additional, Kim, Hyung-Suk, additional, Huber, Daniel, additional, Harezlak, Jaroslaw, additional, Cameron, Kenneth L., additional, McGinty, Gerald, additional, Jackson, Jonathan, additional, Guskiewicz, Kevin M., additional, Mihalik, Jason P., additional, Brooks, Alison, additional, Duma, Stefan, additional, Rowson, Steven, additional, Nelson, Lindsay D., additional, Pasquina, Paul, additional, McCrea, Michael A., additional, and Gill, Jessica M., additional

Published
2022
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19. Poor sleep quality is associated with elevated exosomal inflammatory cytokines in warfighters with chronic mild TBI (S1.006)

Author

Gottshall, Jackie, primary, Sheth, Phorum, additional, Pucci, Josephine, additional, Brooks, Daniel, additional, Watson, Nora, additional, Gabriel, Ainslee, additional, Mithani, Sara, additional, Leete, Jacqueline, additional, Lai, Chen, additional, Qu, Baioxi, additional, Devoto, Christina, additional, Gill, Jessica, additional, Kenney, Kimbra, additional, and Werner, J. Kent, additional

Published
2022
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21. Remote blast-related mild traumatic brain injury is associated with differential expression of exosomal microRNAs identified in neurodegenerative and immunological processes

Author

Devoto, Christina, primary, Guedes, Vivian A., additional, Lai, Chen, additional, Leete, Jacqueline J., additional, Mithani, Sara, additional, Edwards, Katie, additional, Vorn, Rany, additional, Qu, Bao-Xi, additional, Wilde, Elisabeth A., additional, Walker, William C., additional, Diaz-Arrastia, Ramon, additional, Werner, J Kent, additional, Kenney, Kimbra, additional, and Gill, Jessica M., additional

Published
2022
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22. Sleep quality: A common thread linking depression, post-traumatic stress, and post-concussive symptoms to biomarkers of neurodegeneration following traumatic brain injury

Author

Gottshall, Jackie L., primary, Agyemang, Amma A., additional, O’Neil, Maya, additional, Wei, Guo, additional, Presson, Angela, additional, Hewins, Bryson, additional, Fisher, Daniel, additional, Mithani, Sara, additional, Shahim, Pashtun, additional, Pugh, Mary Jo, additional, Wilde, Elisabeth A., additional, Devoto, Christina, additional, Yaffe, Kristine, additional, Gill, Jessica, additional, Kenney, Kimbra, additional, and Werner, J. Kent, additional

Published
2022
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23. Proteomic Profiling of Plasma Biomarkers Associated With Return to Sport Following Concussion: Findings From the NCAA and Department of Defense CARE Consortium

Author

Lai, Chen, Broglio, Steven P., Brooks, Alison, McCrea, Michael A., McGinty, Gerald, Mithani, Sara, Yun, Sijung, Meier, Timothy B., McAllister, Thomas W., Gill, Jessica M., Pasquina, Paul, Duma, Stefan, Nelson, Lindsay D., Guskiewicz, Kevin M., Jackson, Jonathan, Devoto, Christina, Mihalik, Jason P., Vorn, Rany, Kim, Hyung-Suk, CARE Consortium Investigators, Harezlak, Jaroslaw, Giza, Christopher C., Huber, Daniel, Cameron, Kenneth L., and Rowson, Steven

Abstract

ObjectiveTo investigate the plasma proteomic profiling in identifying biomarkers related to return to sport (RTS) following a sport-related concussion (SRC).MethodsThis multicenter, prospective, case-control study was part of a larger cohort study conducted by the NCAA-DoD Concussion Assessment, Research, and Education (CARE) Consortium, athletes (n = 140) with blood collected within 48 h of injury and reported day to asymptomatic were included in this study, divided into two groups: (1) recovery

Published
2022
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24. Poor Sleep Quality is Linked to Elevated Extracellular Vesicle-Associated Inflammatory Cytokines in Warfighters With Chronic Mild Traumatic Brain Injuries

Author

Gottshall, Jackie L., primary, Guedes, Vivian A., additional, Pucci, Josephine U., additional, Brooks, Daniel, additional, Watson, Nora, additional, Sheth, Phorum, additional, Gabriel, Ainslee, additional, Mithani, Sara, additional, Leete, Jacqueline J., additional, Lai, Chen, additional, Qu, Bao-Xi, additional, Devoto, Christina, additional, Gill, Jessica M., additional, Kenney, Kimbra, additional, and Werner, J. Kent, additional

Published
2022
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25. Sex Differences in Behavioral Symptoms and the Levels of Circulating GFAP, Tau, and NfL in Patients With Traumatic Brain Injury

Author

Sass, Dilorom, primary, Guedes, Vivian A., additional, Smith, Ethan G., additional, Vorn, Rany, additional, Devoto, Christina, additional, Edwards, Katie A., additional, Mithani, Sara, additional, Hentig, James, additional, Lai, Chen, additional, Wagner, Chelsea, additional, Dunbar, Kerri, additional, Hyde, David R., additional, Saligan, Leorey, additional, Roy, Michael J., additional, and Gill, Jessica, additional

Published
2021
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27. Extracellular Vesicle Proteins and MicroRNAs Are Linked to Chronic Post-Traumatic Stress Disorder Symptoms in Service Members and Veterans With Mild Traumatic Brain Injury

Author

Guedes, Vivian A., primary, Lai, Chen, additional, Devoto, Christina, additional, Edwards, Katie A., additional, Mithani, Sara, additional, Sass, Dilorom, additional, Vorn, Rany, additional, Qu, Bao-Xi, additional, Rusch, Heather L., additional, Martin, Carina A., additional, Walker, William C., additional, Wilde, Elisabeth A., additional, Diaz-Arrastia, Ramon, additional, Gill, Jessica M., additional, and Kenney, Kimbra, additional

Published
2021
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28. Latin American Trans‐ancestry INitiative for OCD genomics (LATINO): Study protocol

Author

Crowley, James J., Cappi, Carolina, Ochoa‐Panaifo, Marcos E., Frederick, Renee M., Kook, Minjee, Wiese, Andrew D., Rancourt, Diana, Atkinson, Elizabeth G., Giusti‐Rodriguez, Paola, Anderberg, Jacey L., Abramowitz, Jonathan S, Adorno, Victor R, Aguirre, Cinthia, Alves, Gilberto S, Alves, Gustavo S, Ancalade, NaEshia, Anderberg, Jacey L, Arellano Espinosa, Alejandro A, Arnold, Paul D, Atkinson, Elizabeth G, Ayton, Daphne M, Barbosa, Izabela G, Castano, Laura Marcela Barón, Barrera, Cynthia N, Berardo, María Celeste, Berrones, Dayan, Best, John R, Bigdeli, Tim B, Borda, Tania, Burton, Christie L, Buxbaum, Joseph D, Callahan, Jennifer L, Cappi, Carolina, Carneiro, Maria Cecília B, Cepeda, Sandra L, Chazelle, Evelyn, Chire, Jessica M, Munoz, Macarena Churruca, Quiroz, Pamela Claisse, Cobite, Journa, Comer, Jonathan S, Costa, Daniel L, Crosbie, Jennifer, Crowley, James J, Cruz, Victor O, Dager, Guillermo, Daza, Luisa F, Rosa‐Gómez, Anabel, Río, Daniela, Delage, Fernanda Z, Dreher, Carolina B, Fay, Lucila, Fazio, Tomas, Ferrão, Ygor A, Ferreira, Gabriela M, Figueroa, Edith G, Fontenelle, Leonardo F, Forero, Diego A, Fragoso, Daniele TH, Frederick, Renee M, Gadad, Bharathi S, Garrison, Sheldon R, Giusti‐Rodriguez, Paola, Gonzalez, Laura D, González, Andres, González, Marco A, Gonzalez‐Barrios, Polaris, Goodman, Wayne, Grice, Dorothy E, Guintivano, Jerry, Guttfreund, Daniel G, Guzick, Andrew G, Halvorsen, Matthew W, Hovey, Joseph D, Huang, Hailiang, Irreño‐Sotomonte, Jonathan, Janssen‐Aguilar, Reinhard, Jensen, Matias, Jimenez Reynolds, Alexandra Z, Lujambio, Joali Alexandra Juárez, Khalfe, Nasim, Knutsen, Madison A, Kook, Minjee, Lack, Caleb, Lanzagorta, Nuria, Lázaro‐Muñoz, Gabriel, Lima, Monicke O, Longhurst, Melanie O, Lozada Martinez, David A, Luna, Elba S, Marques, Andrea H, Martinez, Molly, Martinez Mallen, Mayra C, Martinez‐Gonzalez, Karen G, Los Angeles Matos, Maria, Mattheisen, Manuel, Maye, Caitlyn E, McGuire, Joseph F, Menezes, Gabriela, Miguel, Euripedes C, Minaya, Charlene, Miño, Tomás, Mithani, Sara M, Oca, Circe Montes, Morales‐Rivero, Alonso, Moreira‐de‐Oliveira, Maria E, Morris, Olivia J, Moya, Pablo R, Moyano, María Beatriz, Muñoz, Sandra I, Naqqash, Zainab, Nicolini, Humberto, Núñez Bracho, Ambar A, Núñez Bracho, Belinda E, Rojas, Maria Corina Ochoa, Ochoa‐Panaifo, Marcos E, Olavarria Castaman, Luis A, Balmaceda, Trinidad Olivos, Ortega, Iliana, Patel, Darpan I, Pato, Michele T, Patrick, Ainsley K, Mino, Mariel Paz y, Perales Orellana, Jose L, Stumpf, Bárbara Perdigão, Peregrina, Tamara, Pereira, Stacey, Duarte, Tania Pérez, Piacsek, Kelly L, Placencia, Maritza, Prieto, María Belén, Quarantini, Lucas C, Quarantini‐Alvim, Yana, Ramos, Iaroslava C, Ramos, Renato T, Ramos, Vanessa R, Ramsey, Kesley A, Rancourt, Diana, Ray, Elise V, Richter, Margaret A, Riemann, Bradley C, Rivas, Juan C, Rodriguez, Carolyn I, Rosario, Maria C, Ruggero, Camilo J, Ruiz‐Chow, Angel A, Ruiz‐Velasco, Alejandra, Sagarnaga, Melisa N, Sampaio, Aline S, Saraiva, Leonardo C, Schachar, Russell J, Schneider, Sophie C, Schweissing, Ethan J, Seligman, Laura D, Shavitt, Roseli G, Soileau, Keaton J, Stewart, S. Evelyn, Storch, Eric A, Storch, Shaina B, Strouphauer, Emily R, Cuevas, Vissente Tapia, Timpano, Kiara R, Garza, Beatriz Treviño‐de, Vallejo‐Silva, Alexie, Vargas‐Medrano, Javier, Vásquez, María I, Martinez, Guadalupe Vidal, Weinzimmer, Saira A, Wiese, Andrew D, Yanez, Mauricio A, Zai, Gwyneth, Zapata‐Restrepo, Lina M, Zappa, Luz M, Zepeda‐Burgos, Raquel M, Zoghbi, Anthony W, Sampaio, Aline Santos, Hounie, Ana Gabriela, Ribeiro, Ana Paula, Souza e Silva, Angela Rodrigues, Martinho, Ariane Fadel, Stumpf, Bárbara Luciane Perdigão, Melo Fadel, Bianca Torres Mendonça, Porto, Camila Vale, Chacur, Carina Freitas, Loureiro, Carla Pereira, Dreher, Carolina Blaya, Cappi, Carolina, Bortoncello, Cristiane Flôres, Conceição Costa, Daniel Lucas, Fragoso, Daniele Tamae Hashimoto, Miguel, Euripedes Constantino, Delage, Fernanda Zetola, Cervone, Flávia, Menezes, Gabriela Bezerra, Souza Barros, Gabriela Cirqueira, Ferreira, Gabriela Mourão, Alves, Gilberto Sousa, Alves, Gustavo Santiago, Caminha, Hugo, Barbosa, Izabela Guimarães, Cenci, Jaqueline, Muhlbauer, Julia Fernandes Eigenheer, Silva, Juliana Rigue, Saraiva, Leonardo Cardoso, Costa Fontenelle, Leonardo Franklin, Camba Lopez, Lígia S., Faro, Livi Ferreira Testoni, Moreira, Luan Pinheiro Domingues, Laurito, Luana Dumans, Castro Quarantini, Lucas, Samezima, Luciana Midori, Santos Martins, Luiz Felipe Guimarães, Oliveira, Marcos Vinícius Sousa, Mathis, Maria Alice, Lopes, Maria Carolina Paraíso, Carneiro, Maria Cecília, Rosário, Maria Conceição, Oliveira, Maria Eduarda Ismerio Moreira, Pinho, Marina Martorelli, Oliveira Lima, Monicke, Nagano, Nádia, Danna, Patrycia Chedid, Silva, Pedro Pereira Fortes, Jesus Cardoso, Raquel Fernandes, Christo, Renan Barbosa, Avila, Richard Chuquel Silveira, Radins, Rodrigo Bolsson, Shavitt, Roseli Gedanke, Santos Ribeiro, Samara, Silveira Meirelles, Tatiane Veríssimo, Aguiar, Thays Mendes, Silva Sousa, Theresa Kerolayne, Vieira, Thiago Blanco, Ramos, Vanessa Rogério, Vasconcellos, Veronica Huhne, Alvim, Yana Quarantini, Ferrão, Ygor Arzeno, Abramowitz, Jonathan S., Adorno, Victor R., Aguirre, Cinthia, Alves, Gilberto S., Alves, Gustavo S., Ancalade, NaEshia, Arellano Espinosa, Alejandro A., Arnold, Paul D., Ayton, Daphne M., Barbosa, Izabela G., Castano, Laura Marcela Barón, Barrera, Cynthia N., Berardo, María Celeste, Berrones, Dayan, Best, John R., Bigdeli, Tim B., Burton, Christie L., Buxbaum, Joseph D., Callahan, Jennifer L., Carneiro, Maria Cecília B., Cepeda, Sandra L., Chazelle, Evelyn, Chire, Jessica M., Munoz, Macarena Churruca, Quiroz, Pamela Claisse, Cobite, Journa, Comer, Jonathan S., Costa, Daniel L., Crosbie, Jennifer, Cruz, Victor O., Dager, Guillermo, Daza, Luisa F., Rosa‐Gómez, Anabel, Río, Daniela, Delage, Fernanda Z., Dreher, Carolina B., Fay, Lucila, Fazio, Tomas, Ferrão, Ygor A., Ferreira, Gabriela M., Figueroa, Edith G., Fontenelle, Leonardo F., Forero, Diego A., Fragoso, Daniele T. H., Gadad, Bharathi S., Garrison, Sheldon R., González, Andres, Gonzalez, Laura D., González, Marco A., Gonzalez‐Barrios, Polaris, Goodman, Wayne K., Grice, Dorothy E., Guintivano, Jerry, Guttfreund, Daniel G., Guzick, Andrew G., Halvorsen, Matthew W., Hovey, Joseph D., Huang, Hailiang, Irreño‐Sotomonte, Jonathan, Janssen‐Aguilar, Reinhard, Jensen, Matias, Jimenez Reynolds, Alexandra Z., Lujambio, Joali Alexandra Juárez, Khalfe, Nasim, Knutsen, Madison A., Lack, Caleb, Lanzagorta, Nuria, Lima, Monicke O., Longhurst, Melanie O., Lozada Martinez, David A., Luna, Elba S., Marques, Andrea H., Martinez, Molly S., Los Angeles Matos, Maria, Maye, Caitlyn E., McGuire, Joseph F., Menezes, Gabriela, Minaya, Charlene, Miño, Tomás, Mithani, Sara M., Oca, Circe Montes, Morales‐Rivero, Alonso, Moreira‐de‐Oliveira, Maria E., Morris, Olivia J., Muñoz, Sandra I., Naqqash, Zainab, Núñez Bracho, Ambar A., Núñez Bracho, Belinda E., Rojas, Maria Corina Ochoa, Olavarria Castaman, Luis A., Balmaceda, Trinidad Olivos, Ortega, Iliana, Patel, Darpan I., Patrick, Ainsley K., Paz y Mino, Mariel, Perales Orellana, Jose L., Stumpf, Bárbara Perdigão, Peregrina, Tamara, Duarte, Tania Pérez, Piacsek, Kelly L., Placencia, Maritza, Prieto, María Belén, Quarantini, Lucas C., Quarantini‐Alvim, Yana, Ramos, Renato T., Ramos, Iaroslava C., Ramos, Vanessa R., Ramsey, Kesley A., Ray, Elise V., Richter, Margaret A., Riemann, Bradley C., Rivas, Juan C., Rosario, Maria C., Ruggero, Camilo J., Ruiz‐Chow, Angel A., Ruiz‐Velasco, Alejandra, Sagarnaga, Melisa N., Sampaio, Aline S., Saraiva, Leonardo C., Schachar, Russell J., Schneider, Sophie C., Schweissing, Ethan J., Seligman, Laura D., Shavitt, Roseli G., Soileau, Keaton J., Stewart, S. Evelyn, Storch, Shaina B., Strouphauer, Emily R., Cuevas, Vissente Tapia, Timpano, Kiara R., Garza, Beatriz Treviño‐de, Vallejo‐Silva, Alexie, Vargas‐Medrano, Javier, Vásquez, María I., Martinez, Guadalupe Vidal, Weinzimmer, Saira A., Yanez, Mauricio A., Zai, Gwyneth, Zapata‐Restrepo, Lina M., Zappa, Luz M., Zepeda‐Burgos, Raquel M., Zoghbi, Anthony W., Miguel, Euripedes C., Rodriguez, Carolyn I., Martinez Mallen, Mayra C., Moya, Pablo R., Borda, Tania, Moyano, María Beatriz, Mattheisen, Manuel, Pereira, Stacey, Lázaro‐Muñoz, Gabriel, Martinez‐Gonzalez, Karen G., Pato, Michele T., Nicolini, Humberto, and Storch, Eric A.

Abstract

Obsessive‐compulsive disorder (OCD) is a debilitating psychiatric disorder. Worldwide, its prevalence is ~2% and its etiology is mostly unknown. Identifying biological factors contributing to OCD will elucidate underlying mechanisms and might contribute to improved treatment outcomes. Genomic studies of OCD are beginning to reveal long‐sought risk loci, but >95% of the cases currently in analysis are of homogenous European ancestry. If not addressed, this Eurocentric bias will result in OCD genomic findings being more accurate for individuals of European ancestry than other ancestries, thereby contributing to health disparities in potential future applications of genomics. In this study protocol paper, we describe the Latin American Trans‐ancestry INitiative for OCD genomics (LATINO, https://www.latinostudy.org). LATINO is a new network of investigators from across Latin America, the United States, and Canada who have begun to collect DNA and clinical data from 5000 richly phenotyped OCD cases of Latin American ancestry in a culturally sensitive and ethical manner. In this project, we will utilize trans‐ancestry genomic analyses to accelerate the identification of OCD risk loci, fine‐map putative causal variants, and improve the performance of polygenic risk scores in diverse populations. We will also capitalize on rich clinical data to examine the genetics of treatment response, biologically plausible OCD subtypes, and symptom dimensions. Additionally, LATINO will help elucidate the diversity of the clinical presentations of OCD across cultures through various trainings developed and offered in collaboration with Latin American investigators. We believe this study will advance the important goal of global mental health discovery and equity.

Published
2024
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32. Whole Blood Transcriptome Sequencing in Individuals with Insomnia

Author

Mithani, Sara

Subjects
Uncategorized
Abstract

The purpose of this dissertation was to identify a transcriptomic profile of individuals with insomnia and explore the role of the glymphatic system and sleep disturbances in neurodegenerative disease and traumatic brain injury. The first paper reports whole blood transcriptomic analysis in individuals with insomnia using RNA sequencing technology. The study incorporated innovative high throughput sequencing platform with extended pathway analysis using QIAGEN’s Ingenuity® Pathway Analysis software to identify differentially expressed genes and pathways in individuals with insomnia. The second paper provides a critical review of the sleep-wake process and the glymphatic system and how these processes contribute to neurodegenerative disorders and traumatic brain injury. The research addresses an important gap in knowledge about underlying mechanism of insomnia and how sleep disturbance, the glymphatic pathway and neurologic conditions may be interrelated.

Published
2020
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33. Circulating brain injury exosomal proteins following Moderate-to-Severe traumatic brain injury : temporal profile, outcome prediction and therapy implications

Author

Mondello, Stefania, Guedes, Vivian A., Lai, Chen, Czeiter, Endre, Amrein, Krisztina, Kobeissy, Firas, Mechref, Yehia, Jeromin, Andreas, Mithani, Sara, Martin, Carina, Wagner, Chelsea L., Czigler, András, Tóth, Luca, Fazekas, Bálint, Büki, Andras, Gill, Jessica, Mondello, Stefania, Guedes, Vivian A., Lai, Chen, Czeiter, Endre, Amrein, Krisztina, Kobeissy, Firas, Mechref, Yehia, Jeromin, Andreas, Mithani, Sara, Martin, Carina, Wagner, Chelsea L., Czigler, András, Tóth, Luca, Fazekas, Bálint, Büki, Andras, and Gill, Jessica

Abstract

Brain injury exosomal proteins are promising blood biomarker candidates in traumatic brain injury (TBI). A better understanding of their role in the diagnosis, characterization, and management of TBI is essential for upcoming clinical implementation. In the current investigation, we aimed to explore longitudinal trajectories of brain injury exosomal proteins in blood of patients with moderate-to-severe TBI, and to evaluate the relation with the free-circulating counterpart and patient imaging and clinical parameters. Exosomal levels of glial (glial fibrillary acidic protein (GFAP)) and neuronal/axonal (ubiquitin carboxy-terminal hydrolase L1 (UCH-L1), neurofilament light chain (NFL), and total-tau (t-tau)) proteins were measured in serum of 21 patients for up 5 days after injury using single molecule array (Simoa) technology. Group-based trajectory analysis was used to generate distinct temporal exosomal biomarker profiles. We found altered profiles of serum brain injury exosomal proteins following injury. The dynamics and levels of exosomal and related free-circulating markers, although correlated, showed differences. Patients with diffuse injury displayed higher acute exosomal NFL and GFAP concentrations in serum than those with focal lesions. Exosomal UCH-L1 profile characterized by acutely elevated values and a secondary steep rise was associated with early mortality (n = 2) with a sensitivity and specificity of 100%. Serum brain injury exosomal proteins yielded important diagnostic and prognostic information and represent a novel means to unveil underlying pathophysiology in patients with moderate-to-severe TBI. Our findings support their utility as potential tools to improve patient phenotyping in clinical practice and therapeutic trials., Funding Agency:Ministry of Health, Italy

Published
2020
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35. Circulating Brain Injury Exosomal Proteins following Moderate-to-Severe Traumatic Brain Injury: Temporal Profile, Outcome Prediction and Therapy Implications

Author

Mondello, Stefania, primary, Guedes, Vivian A., additional, Lai, Chen, additional, Czeiter, Endre, additional, Amrein, Krisztina, additional, Kobeissy, Firas, additional, Mechref, Yehia, additional, Jeromin, Andreas, additional, Mithani, Sara, additional, Martin, Carina, additional, Wagner, Chelsea L., additional, Czigler, András, additional, Tóth, Luca, additional, Fazekas, Bálint, additional, Buki, Andras, additional, and Gill, Jessica, additional

Published
2020
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36. Excessive daytime sleepiness is associated with altered gene expression in military personnel and veterans with posttraumatic stress disorder: an RNA sequencing study

Author

Pattinson, Cassandra L, primary, Guedes, Vivian A, additional, Edwards, Katie, additional, Mithani, Sara, additional, Yun, Sijung, additional, Taylor, Patricia, additional, Dunbar, Kerri, additional, Kim, Hyung-Suk, additional, Lai, Chen, additional, Roy, Michael J, additional, and Gill, Jessica M, additional

Published
2020
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40. Elevated tau and interleukin-6 concentrations in adults with obstructive sleep apnea

Author

Motamedi, Vida, Kanefsky, Rebekah, Matsangas, Panagiotis, Mithani, Sara, Jeromin, Andreas, Brock, Matthew S., Mysliwiec, Vincent, Gill, Jessica, Motamedi, Vida, Kanefsky, Rebekah, Matsangas, Panagiotis, Mithani, Sara, Jeromin, Andreas, Brock, Matthew S., Mysliwiec, Vincent, and Gill, Jessica

Abstract

Obstructive sleep apnea (OSA) is characterized by apneas and hypopneas that result in hypoxia, cerebral hypoperfusion, endothelial dysfunction, inflammation, and oxidative stress. These pathophysiologic processes likely contribute to neuronal damage. Tau is a protein that stabilizes microtubules and, along with amyloid beta (Ab), is associated with neurodegenerative processes. We sought to determine if tau and other biomarkers of inflammation were related to OSA severity. Concentrations of tau, Ab40, Ab42, c-reactive protein (CRP), TNF-a, interleukin (IL)-6, and IL-10 were measured in blood and compared between participants with moderate-severe OSA (n 1⁄4 28), those with mild OSA (n 1⁄4 22), and healthy controls (n 1⁄4 24). The cohort included relatively young, primarily male active duty military personnel without a history of traumatic brain injury or neurodegenerative disease. Total biomarker concentrations were determined from plasma samples using an ultra-sensitive detection method, SimoaTM, and CRP was assayed by ELISA. Total tau and IL-6 concentrations were elevated in participants with moderate-severe OSA, with a mean apnea-hypopnea index (AHI) of 26.1/h, compared to those with mild OSA (mean AHI 8.6/h) and healthy controls (mean AHI 2.1/h). Tau concentrations were also significantly correlated with the AHI (r 1⁄4 0.342, p 1⁄4 0.004). Our findings show that tau is elevated in the blood of young patients with moderate-severe OSA, suggesting that this degree of sleep-disordered breathing is a contributing factor in the development of neurodegenerative disorders. The finding of increased IL-6 further suggests that inflammatory biomarkers are present early in the course of this chronic disease.

Published
2017

41. Measurement of Cognitive Function in Exercise Oncology Studies in Patients Treated With Chemotherapy: A Scoping Review.

Author

Moon C, Wilson RL, Gonzalo-Encabo P, Kang DW, Mithani S, Dieli-Conwright CM, and Patel DI

Subjects
Humans, Exercise Therapy methods, Antineoplastic Agents adverse effects, Antineoplastic Agents therapeutic use, Patient Reported Outcome Measures, Cognition drug effects, Cognition physiology, Neoplasms drug therapy, Neoplasms psychology, Neoplasms complications, Exercise physiology, Exercise psychology
Abstract

Cancer-associated cognitive deficits following chemotherapy have received increased attention in clinical research. Exercise has been shown to preserve cognitive function in cancer patients, though the overall effect is mixed. Here we present a scoping review of the published literature summarizing methods used to assess cognitive function in exercise oncology trials. Methods: PubMed, PsycINFO and CINAHL databases were searched using keywords "cognition," "cancer" OR "neoplasm" OR "tumor," "chemotherapy" and "exercise" OR "physical activity." Studies eligible for inclusion include prospective studies that were published in English in peer-reviewed journals that include a method of assessing cognitive function in adult cancer patients, in which an exercise modality or method of quantifying exercise habits was evident. Studies were excluded if they included a pediatric population, patients that were not diagnosed with cancer, or were systematic/narrative/scoping reviews, protocol papers or dissertation/theses. Results: A total of 29 studies met the inclusion criteria. In total, 29 unique assessments were used to evaluate cognitive function, including patient-reported outcomes (PROs; n = 8) and objective (n = 21) methods. More than half (n = 17) of included studies relied on PROs while 12 studies utilized objective measures of cognitive function Cognitive domains of the PROs were limited in scope, focusing on memory and attention/concentration while the objective measures were broader and inclusive of multiple domains. Conclusion: The results of this review indicate that mixed approaches to evaluating cognitive function in cancer patients pose a major limitation to understanding the role of exercise as an integrative approach. The evidence demonstrates a need for more uniform assessment of cognitive function in exercise oncology trials., Competing Interests: Declaration of Conflicting InterestsThe author(s) declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article.

Published
2024
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42. Sex differences in US military personnel with insomnia, obstructive sleep apnea, or comorbid insomnia and obstructive sleep apnea.

Author

Mysliwiec V, Pruiksma KE, Matsangas P, Powell T, Straud CL, Taylor DJ, Hansen S, Foster SN, Mithani S, Zwetzig S, Martin J, Gerwell K, Young-McCaughan S, Blue Star JA, Cassidy DG, Gomes KD, Moore BA, Peterson AL, and Brock MS

Subjects
Humans, Female, Male, Adult, Sex Characteristics, Military Personnel, Sleep Initiation and Maintenance Disorders epidemiology, Sleep Apnea, Obstructive complications, Sleep Apnea, Obstructive epidemiology, Sleep Wake Disorders, Brain Injuries, Traumatic
Abstract

Study Objectives: The aim of this study was to evaluate sex-related differences in symptoms of sleep disorders, sleep-related impairment, psychiatric symptoms, traumatic brain injury, and polysomnographic variables in treatment-seeking military personnel diagnosed with insomnia, obstructive sleep apnea (OSA), or comorbid insomnia and OSA (COMISA)., Methods: Participants were 372 military personnel (46.2% women, 53.8% men) with an average age of 37.7 (standard deviation = 7.46) years and median body mass index of 28.4 (5.50) kg/m 2 . Based on clinical evaluation and video-polysomnography, participants were diagnosed with insomnia (n = 118), OSA (n = 118), or COMISA (n = 136). Insomnia severity, excessive daytime sleepiness, sleep quality, nightmare disorder, sleep impairment, fatigue, posttraumatic stress disorder, anxiety, depression symptoms, and traumatic brain injury were evaluated with validated self-report questionnaires. Descriptive statistics, parametric and nonparametric t -tests, and effect sizes were used to assess sex differences between men and women., Results: There were no significant differences between women and men with insomnia or OSA in sleep-related symptoms, impairment, or polysomnography-based apnea-hypopnea index. Military men with COMISA had a significantly greater apnea-hypopnea index as compared to military women with COMISA, but women had greater symptoms of nightmare disorder, posttraumatic stress disorder, and anxiety., Conclusions: In contrast to civilian studies, minimal differences were observed in self-reported sleep symptoms, impairment, and polysomnography metrics between men and women diagnosed with the most frequent sleep disorders in military personnel (ie, insomnia, OSA, or COMISA) except in those with COMISA. Military service may result in distinct sleep disorder phenotypes that differ negligibly by sex., Citation: Mysliwiec V, Pruiksma KE, Matsangas P, et al. Sex differences in US military personnel with insomnia, obstructive sleep apnea, or comorbid insomnia and obstructive sleep apnea. J Clin Sleep Med . 2024;20(1):17-30., (© 2024 American Academy of Sleep Medicine.)

Published
2024
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43. Latin American Trans-ancestry INitiative for OCD genomics (LATINO): Study Protocol.

Author

Crowley JJ, Cappi C, Ochoa-Panaifo ME, Frederick RM, Kook M, Wiese AD, Rancourt D, Atkinson EG, Giusti-Rodriguez P, Anderberg JL, Abramowitz JS, Adorno VR, Aguirre C, Alves GS, Alves GS, Ancalade N, Espinosa AAA, Arnold PD, Ayton DM, Barbosa IG, Castano LMB, Barrera CN, Prieto MB, Berardo MC, Berrones D, Best JR, Bigdeli TB, Burton CL, Callahan JL, Carneiro MCB, Cepeda SL, Chazelle E, Chire JM, Munoz MC, Quiroz PC, Cobite J, Comer JS, Costa DL, Crosbie J, Cruz VO, Dager G, Daza LF, de la Rosa-Gómez A, Del Río D, Delage FZ, Dreher CB, Fay L, Fazio T, Ferrão YA, Ferreira GM, Figueroa EG, Fontenelle LF, Forero DA, Fragoso DT, Gadad BS, Garrison SR, González A, Gonzalez LD, González MA, Gonzalez-Barrios P, Goodman W, Guintivano J, Guttfreund DG, Guzick AG, Halvorsen MW, Hovey JD, Janssen-Aguilar R, Jensen M, Reynolds AZJ, Lujambio JAJ, Khalfe N, Knutsen MA, Lack C, Lanzagorta N, Lima MO, Longhurst MO, Martinez DAL, Luna ES, Marques AH, Martinez M, de Los Angeles Matos M, Maye CE, McGuire JF, Menezes G, Minaya C, Miño T, Mithani SM, de Oca CM, Morales-Rivero A, Moreira-de-Oliveira ME, Morris OJ, Muñoz SI, Naqqash Z, Bracho AAN, Bracho BEN, Rojas MCO, Castaman LAO, Ortega I, Patel DI, Patrick AK, Mino MPY, Orellana JLP, Stumpf BP, Peregrina T, Duarte TP, Piacsek KL, Placencia M, Quarantini LC, Quarantini-Alvim Y, Ramos RT, Ramos IC, Ramos VR, Ramsey KA, Ray EV, Richter MA, Riemann BC, Rivas JC, Rosario MC, Ruggero CJ, Ruiz-Chow AA, Ruiz-Velasco A, Sampaio AS, Saraiva LC, Schachar RJ, Schneider SC, Schweissing EJ, Seligman LD, Shavitt RG, Soileau KJ, Stewart SE, Storch SB, Strouphauer ER, Timpano KR, Treviño-de la Garza B, Vargas-Medrano J, Vásquez MI, Martinez GV, Weinzimmer SA, Yanez MA, Zai G, Zapata-Restrepo LM, Zappa LM, Zepeda-Burgos RM, Zoghbi AW, Miguel EC, Rodriguez CI, Mallen MCM, Moya PR, Borda T, Moyano MB, Mattheisen M, Pereira S, Lázaro-Muñoz G, Martinez-Gonzalez KG, Pato MT, Nicolini H, and Storch EA

Abstract

Obsessive-compulsive disorder (OCD) is a debilitating psychiatric disorder. Worldwide, its prevalence is ~2% and its etiology is mostly unknown. Identifying biological factors contributing to OCD will elucidate underlying mechanisms and might contribute to improved treatment outcomes. Genomic studies of OCD are beginning to reveal long-sought risk loci, but >95% of the cases currently in analysis are of homogenous European ancestry. If not addressed, this Eurocentric bias will result in OCD genomic findings being more accurate for individuals of European ancestry than other ancestries, thereby contributing to health disparities in potential future applications of genomics. In this study protocol paper, we describe the Latin American Trans-ancestry INitiative for OCD genomics (LATINO, www.latinostudy.org). LATINO is a new network of investigators from across Latin America, the United States, and Canada who have begun to collect DNA and clinical data from 5,000 richly-phenotyped OCD cases of Latin American ancestry in a culturally sensitive and ethical manner. In this project, we will utilize trans-ancestry genomic analyses to accelerate the identification of OCD risk loci, fine-map putative causal variants, and improve the performance of polygenic risk scores in diverse populations. We will also capitalize on rich clinical data to examine the genetics of treatment response, biologically plausible OCD subtypes, and symptom dimensions. Additionally, LATINO will help elucidate the diversity of the clinical presentations of OCD across cultures through various trainings developed and offered in collaboration with Latin American investigators. We believe this study will advance the important goal of global mental health discovery and equity.

Published
2023
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