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1. Internalized Heterosexism Magnifies the Association of Hazardous or Harmful Alcohol Use on Intimate Partner Violence Perpetration Rates of Sexual Minority and Same-Sex-Attracted Men.

Author

Schramm, Andrew T., Swan, Suzanne C., Lambdin, Nell, deRoon-Cassini, Terri A., Srivastava, Pranjal, and Shorey, Ryan C.

Subjects
INTIMATE partner violence, SEXUAL minority men, ALCOHOL drinking, HETEROSEXISM, MINORITY stress, SEXUAL orientation
Abstract

Objective: To test whether internalized heterosexism, a form of minority stress, heightens the effect of hazardous or harmful alcohol use on frequency of intimate partner violence (IPV) perpetration among sexual minority and same-sex-attracted men. Method: We recruited participants online via Amazon Mechanical Turk (MTurk). Inclusion criteria were adult cisgender men living in the United States who identified as a sexual minority (i.e., gay, bisexual) or who endorsed being sexually attracted to men and who reported a male partner in the preceding year. Participants (N = 198) completed self-report questionnaires measuring sexual orientation and attraction, internalized heterosexism, IPV perpetration (sexual, physical, and psychological), and hazardous or harmful alcohol use. Results: Hazardous or harmful alcohol use and internalized heterosexism were associated with frequency of IPV perpetration. Internalized heterosexism moderated the effect of hazardous or harmful alcohol use on IPV perpetration, such that greater hazardous or harmful alcohol use and higher levels of internalized heterosexism were associated with the greatest rates of IPV perpetration. Results were consistent for each type of IPV (sexual, physical, and psychological). Conclusions: Our findings highlight the association between high levels of internalized heterosexism, magnified by the presence of hazardous or harmful alcohol use, and physical, sexual, and psychological IPV. Alleviating internalized heterosexism is a potential target for decreasing IPV in this at-risk population. [ABSTRACT FROM AUTHOR]

Published
2024
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5. Examining the association between posttraumatic stress disorder and disruptions in cortical networks identified using data-driven methods

Author

Yang, Jin, Huggins, Ashley A., Sun, Delin, Baird, C. Lexi, Haswell, Courtney C., Frijling, Jessie L., Olff, Miranda, van Zuiden, Mirjam, Koch, Saskia B. J., Nawijn, Laura, Veltman, Dick J., Suarez-Jimenez, Benjamin, Zhu, Xi, Neria, Yuval, Hudson, Anna R., Mueller, Sven C., Baker, Justin T., Lebois, Lauren A. M., Kaufman, Milissa L., Qi, Rongfeng, Lu, Guang Ming, Říha, Pavel, Rektor, Ivan, Dennis, Emily L., Ching, Christopher R. K., Thomopoulos, Sophia I., Salminen, Lauren E., Jahanshad, Neda, Thompson, Paul M., Stein, Dan J., Koopowitz, Sheri M., Ipser, Jonathan C., Seedat, Soraya, du Plessis, Stefan, van den Heuvel, Leigh L., Wang, Li, Zhu, Ye, Li, Gen, Sierk, Anika, Manthey, Antje, Walter, Henrik, Daniels, Judith K., Schmahl, Christian, Herzog, Julia I., Liberzon, Israel, King, Anthony, Angstadt, Mike, Davenport, Nicholas D., Sponheim, Scott R., Disner, Seth G., Straube, Thomas, Hofmann, David, Grupe, Daniel W., Nitschke, Jack B., Davidson, Richard J., Larson, Christine L., deRoon-Cassini, Terri A., Blackford, Jennifer U., Olatunji, Bunmi O., Gordon, Evan M., May, Geoffrey, Nelson, Steven M., Abdallah, Chadi G., Levy, Ifat, Harpaz-Rotem, Ilan, Krystal, John H., Morey, Rajendra A., and Sotiras, Aristeidis

Abstract

Posttraumatic stress disorder (PTSD) is associated with lower cortical thickness (CT) in prefrontal, cingulate, and insular cortices in diverse trauma-affected samples. However, some studies have failed to detect differences between PTSD patients and healthy controls or reported that PTSD is associated with greater CT. Using data-driven dimensionality reduction, we sought to conduct a well-powered study to identify vulnerable networks without regard to neuroanatomic boundaries. Moreover, this approach enabled us to avoid the excessive burden of multiple comparison correction that plagues vertex-wise methods. We derived structural covariance networks (SCNs) by applying non-negative matrix factorization (NMF) to CT data from 961 PTSD patients and 1124 trauma-exposed controls without PTSD. We used regression analyses to investigate associations between CT within SCNs and PTSD diagnosis (with and without accounting for the potential confounding effect of trauma type) and symptom severity in the full sample. We performed additional regression analyses in subsets of the data to examine associations between SCNs and comorbid depression, childhood trauma severity, and alcohol abuse. NMF identified 20 unbiased SCNs, which aligned closely with functionally defined brain networks. PTSD diagnosis was most strongly associated with diminished CT in SCNs that encompassed the bilateral superior frontal cortex, motor cortex, insular cortex, orbitofrontal cortex, medial occipital cortex, anterior cingulate cortex, and posterior cingulate cortex. CT in these networks was significantly negatively correlated with PTSD symptom severity. Collectively, these findings suggest that PTSD diagnosis is associated with widespread reductions in CT, particularly within prefrontal regulatory regions and broader emotion and sensory processing cortical regions.

Published
2024
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6. Genome-wide association analyses identify 95 risk loci and provide insights into the neurobiology of post-traumatic stress disorder

Author

Nievergelt, Caroline M., Maihofer, Adam X., Atkinson, Elizabeth G., Chen, Chia-Yen, Choi, Karmel W., Coleman, Jonathan R. I., Daskalakis, Nikolaos P., Duncan, Laramie E., Polimanti, Renato, Aaronson, Cindy, Amstadter, Ananda B., Andersen, Soren B., Andreassen, Ole A., Arbisi, Paul A., Ashley-Koch, Allison E., Austin, S. Bryn, Avdibegoviç, Esmina, Babić, Dragan, Bacanu, Silviu-Alin, Baker, Dewleen G., Batzler, Anthony, Beckham, Jean C., Belangero, Sintia, Benjet, Corina, Bergner, Carisa, Bierer, Linda M., Biernacka, Joanna M., Bierut, Laura J., Bisson, Jonathan I., Boks, Marco P., Bolger, Elizabeth A., Brandolino, Amber, Breen, Gerome, Bressan, Rodrigo Affonseca, Bryant, Richard A., Bustamante, Angela C., Bybjerg-Grauholm, Jonas, Bækvad-Hansen, Marie, Børglum, Anders D., Børte, Sigrid, Cahn, Leah, Calabrese, Joseph R., Caldas-de-Almeida, Jose Miguel, Chatzinakos, Chris, Cheema, Sheraz, Clouston, Sean A. P., Colodro-Conde, Lucía, Coombes, Brandon J., Cruz-Fuentes, Carlos S., Dale, Anders M., Dalvie, Shareefa, Davis, Lea K., Deckert, Jürgen, Delahanty, Douglas L., Dennis, Michelle F., Desarnaud, Frank, DiPietro, Christopher P., Disner, Seth G., Docherty, Anna R., Domschke, Katharina, Dyb, Grete, Kulenović, Alma Džubur, Edenberg, Howard J., Evans, Alexandra, Fabbri, Chiara, Fani, Negar, Farrer, Lindsay A., Feder, Adriana, Feeny, Norah C., Flory, Janine D., Forbes, David, Franz, Carol E., Galea, Sandro, Garrett, Melanie E., Gelaye, Bizu, Gelernter, Joel, Geuze, Elbert, Gillespie, Charles F., Goleva, Slavina B., Gordon, Scott D., Goçi, Aferdita, Grasser, Lana Ruvolo, Guindalini, Camila, Haas, Magali, Hagenaars, Saskia, Hauser, Michael A., Heath, Andrew C., Hemmings, Sian M. J., Hesselbrock, Victor, Hickie, Ian B., Hogan, Kelleigh, Hougaard, David Michael, Huang, Hailiang, Huckins, Laura M., Hveem, Kristian, Jakovljević, Miro, Javanbakht, Arash, Jenkins, Gregory D., Johnson, Jessica, Jones, Ian, Jovanovic, Tanja, Karstoft, Karen-Inge, Kaufman, Milissa L., Kennedy, James L., Kessler, Ronald C., Khan, Alaptagin, Kimbrel, Nathan A., King, Anthony P., Koen, Nastassja, Kotov, Roman, Kranzler, Henry R., Krebs, Kristi, Kremen, William S., Kuan, Pei-Fen, Lawford, Bruce R., Lebois, Lauren A. M., Lehto, Kelli, Levey, Daniel F., Lewis, Catrin, Liberzon, Israel, Linnstaedt, Sarah D., Logue, Mark W., Lori, Adriana, Lu, Yi, Luft, Benjamin J., Lupton, Michelle K., Luykx, Jurjen J., Makotkine, Iouri, Maples-Keller, Jessica L., Marchese, Shelby, Marmar, Charles, Martin, Nicholas G., Martínez-Levy, Gabriela A., McAloney, Kerrie, McFarlane, Alexander, McLaughlin, Katie A., McLean, Samuel A., Medland, Sarah E., Mehta, Divya, Meyers, Jacquelyn, Michopoulos, Vasiliki, Mikita, Elizabeth A., Milani, Lili, Milberg, William, Miller, Mark W., Morey, Rajendra A., Morris, Charles Phillip, Mors, Ole, Mortensen, Preben Bo, Mufford, Mary S., Nelson, Elliot C., Nordentoft, Merete, Norman, Sonya B., Nugent, Nicole R., O’Donnell, Meaghan, Orcutt, Holly K., Pan, Pedro M., Panizzon, Matthew S., Pathak, Gita A., Peters, Edward S., Peterson, Alan L., Peverill, Matthew, Pietrzak, Robert H., Polusny, Melissa A., Porjesz, Bernice, Powers, Abigail, Qin, Xue-Jun, Ratanatharathorn, Andrew, Risbrough, Victoria B., Roberts, Andrea L., Rothbaum, Alex O., Rothbaum, Barbara O., Roy-Byrne, Peter, Ruggiero, Kenneth J., Rung, Ariane, Runz, Heiko, Rutten, Bart P. F., de Viteri, Stacey Saenz, Salum, Giovanni Abrahão, Sampson, Laura, Sanchez, Sixto E., Santoro, Marcos, Seah, Carina, Seedat, Soraya, Seng, Julia S., Shabalin, Andrey, Sheerin, Christina M., Silove, Derrick, Smith, Alicia K., Smoller, Jordan W., Sponheim, Scott R., Stein, Dan J., Stensland, Synne, Stevens, Jennifer S., Sumner, Jennifer A., Teicher, Martin H., Thompson, Wesley K., Tiwari, Arun K., Trapido, Edward, Uddin, Monica, Ursano, Robert J., Valdimarsdóttir, Unnur, Van Hooff, Miranda, Vermetten, Eric, Vinkers, Christiaan H., Voisey, Joanne, Wang, Yunpeng, Wang, Zhewu, Waszczuk, Monika, Weber, Heike, Wendt, Frank R., Werge, Thomas, Williams, Michelle A., Williamson, Douglas E., Winsvold, Bendik S., Winternitz, Sherry, Wolf, Christiane, Wolf, Erika J., Xia, Yan, Xiong, Ying, Yehuda, Rachel, Young, Keith A., Young, Ross McD, Zai, Clement C., Zai, Gwyneth C., Zervas, Mark, Zhao, Hongyu, Zoellner, Lori A., Zwart, John-Anker, deRoon-Cassini, Terri, van Rooij, Sanne J. H., van den Heuvel, Leigh L., Stein, Murray B., Ressler, Kerry J., and Koenen, Karestan C.

Abstract

Post-traumatic stress disorder (PTSD) genetics are characterized by lower discoverability than most other psychiatric disorders. The contribution to biological understanding from previous genetic studies has thus been limited. We performed a multi-ancestry meta-analysis of genome-wide association studies across 1,222,882 individuals of European ancestry (137,136 cases) and 58,051 admixed individuals with African and Native American ancestry (13,624 cases). We identified 95 genome-wide significant loci (80 new). Convergent multi-omic approaches identified 43 potential causal genes, broadly classified as neurotransmitter and ion channel synaptic modulators (for example, GRIA1, GRM8and CACNA1E), developmental, axon guidance and transcription factors (for example, FOXP2, EFNA5and DCC), synaptic structure and function genes (for example, PCLO, NCAM1and PDE4B) and endocrine or immune regulators (for example, ESR1, TRAF3and TANK). Additional top genes influence stress, immune, fear and threat-related processes, previously hypothesized to underlie PTSD neurobiology. These findings strengthen our understanding of neurobiological systems relevant to PTSD pathophysiology, while also opening new areas for investigation.

Published
2024
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7. To close, not to close, or to act bigger? Managing the defect of large direct inguinal hernia to reduce the risk of recurrence during laparoscopic TAPP repair: a retrospective cohort study

Author

Brucchi, F., Ferraina, F., Masci, E., Ferrara, D., Cassini, D., and Faillace, G.

Abstract

Hernia recurrence is a common complication after inguinal hernia repair. Recent studies suggest that laparoscopic mesh repair with closure of direct hernia defects can reduce recurrence rates. Our study examines the effectiveness of this approach. A retrospective, multi-center cohort study was conducted on cases performed from January 2013 to April 2021. Patients with direct inguinal hernias (M3 according to EHS classification) undergoing TAPP were included. Three groups were present: closed-defect group, non-closed placing a standard-sized mesh group or non-closed placing an XL-sized mesh group. A 2-year follow-up was recorded. A total of 158 direct M3 inguinal hernias in 110 patients who underwent surgery were present. After propensity score matching at a 1:1 ratio, 22 patients for each group were analyzed. The mean age of patients was 62 years (41–84); with the majority being male (84.8%). 22 patients (40 hernias) underwent closure of the defect; 22 patients (39 hernias) did not undergo closure and used a standard-sized mesh; 22 patients (27 hernias) did not undergo closure and used an XL-sized mesh. There were 5 recurrences at 1 year post-operatively: all in the non-closure group with standard-sized mesh. This difference was statistically significant (p= 0.044). There were 7 recurrences (6.6%) at 2 years post-operatively: 6 in the non-closure group with standard-sized mesh and 1 in the non-closure group with XL-sized mesh (p= 0.007). Closing large direct inguinal hernia defects has shown promise in reducing early recurrence rates. However, conducting larger RCTs in the future could provide more conclusive evidence that might impact the way we approach laparoscopic inguinal hernia repair.

Published
2024
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8. Smaller total and subregional cerebellar volumes in posttraumatic stress disorder: a mega-analysis by the ENIGMA-PGC PTSD workgroup

Author

Huggins, Ashley A., Baird, C. Lexi, Briggs, Melvin, Laskowitz, Sarah, Hussain, Ahmed, Fouda, Samar, Haswell, Courtney, Sun, Delin, Salminen, Lauren E., Jahanshad, Neda, Thomopoulos, Sophia I., Veltman, Dick J., Frijling, Jessie L., Olff, Miranda, van Zuiden, Mirjam, Koch, Saskia B. J., Nawjin, Laura, Wang, Li, Zhu, Ye, Li, Gen, Stein, Dan J., Ipser, Jonathan, Seedat, Soraya, du Plessis, Stefan, van den Heuvel, Leigh L., Suarez-Jimenez, Benjamin, Zhu, Xi, Kim, Yoojean, He, Xiaofu, Zilcha-Mano, Sigal, Lazarov, Amit, Neria, Yuval, Stevens, Jennifer S., Ressler, Kerry J., Jovanovic, Tanja, van Rooij, Sanne J. H., Fani, Negar, Hudson, Anna R., Mueller, Sven C., Sierk, Anika, Manthey, Antje, Walter, Henrik, Daniels, Judith K., Schmahl, Christian, Herzog, Julia I., Říha, Pavel, Rektor, Ivan, Lebois, Lauren A. M., Kaufman, Milissa L., Olson, Elizabeth A., Baker, Justin T., Rosso, Isabelle M., King, Anthony P., Liberzon, Isreal, Angstadt, Mike, Davenport, Nicholas D., Sponheim, Scott R., Disner, Seth G., Straube, Thomas, Hofmann, David, Qi, Rongfeng, Lu, Guang Ming, Baugh, Lee A., Forster, Gina L., Simons, Raluca M., Simons, Jeffrey S., Magnotta, Vincent A., Fercho, Kelene A., Maron-Katz, Adi, Etkin, Amit, Cotton, Andrew S., O’Leary, Erin N., Xie, Hong, Wang, Xin, Quidé, Yann, El-Hage, Wissam, Lissek, Shmuel, Berg, Hannah, Bruce, Steven, Cisler, Josh, Ross, Marisa, Herringa, Ryan J., Grupe, Daniel W., Nitschke, Jack B., Davidson, Richard J., Larson, Christine L., deRoon-Cassini, Terri A., Tomas, Carissa W., Fitzgerald, Jacklynn M., Blackford, Jennifer Urbano, Olatunji, Bunmi O., Kremen, William S., Lyons, Michael J., Franz, Carol E., Gordon, Evan M., May, Geoffrey, Nelson, Steven M., Abdallah, Chadi G., Levy, Ifat, Harpaz-Rotem, Ilan, Krystal, John H., Dennis, Emily L., Tate, David F., Cifu, David X., Walker, William C., Wilde, Elizabeth A., Harding, Ian H., Kerestes, Rebecca, Thompson, Paul M., and Morey, Rajendra

Abstract

Although the cerebellum contributes to higher-order cognitive and emotional functions relevant to posttraumatic stress disorder (PTSD), prior research on cerebellar volume in PTSD is scant, particularly when considering subregions that differentially map on to motor, cognitive, and affective functions. In a sample of 4215 adults (PTSD n= 1642; Control n= 2573) across 40 sites from the ENIGMA-PGC PTSD working group, we employed a new state-of-the-art deep-learning based approach for automatic cerebellar parcellation to obtain volumetric estimates for the total cerebellum and 28 subregions. Linear mixed effects models controlling for age, gender, intracranial volume, and site were used to compare cerebellum volumes in PTSD compared to healthy controls (88% trauma-exposed). PTSD was associated with significant grey and white matter reductions of the cerebellum. Compared to controls, people with PTSD demonstrated smaller total cerebellum volume, as well as reduced volume in subregions primarily within the posterior lobe (lobule VIIB, crus II), vermis (VI, VIII), flocculonodular lobe (lobule X), and corpus medullare (all p-FDR< 0.05). Effects of PTSD on volume were consistent, and generally more robust, when examining symptom severity rather than diagnostic status. These findings implicate regionally specific cerebellar volumetric differences in the pathophysiology of PTSD. The cerebellum appears to play an important role in higher-order cognitive and emotional processes, far beyond its historical association with vestibulomotor function. Further examination of the cerebellum in trauma-related psychopathology will help to clarify how cerebellar structure and function may disrupt cognitive and affective processes at the center of translational models for PTSD.

Published
2024
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10. Suicide Data in Trauma Centers: Implications of Imprecision.

Author

Cronn, Susan E., Kant, Jacey M., Brandolino, Amber, Kohlbeck, Sara, deRoon-Cassini, Terri, Emerson, Nathan, and Schramm, Andrew

Subjects
DATA quality, RESEARCH evaluation, ACADEMIC medical centers, TRAUMA centers, RETROSPECTIVE studies, SELF-injurious behavior, SUICIDAL behavior, DESCRIPTIVE statistics, INTENTION, WOUNDS & injuries, TRAUMA registries, MEDICAL coding, SELF-mutilation
Abstract

BACKGROUND: Trauma registries exist to provide data for evaluating the quality of care of trauma patients. These data facilitate research and can be used for outreach, planning, and improvement in trauma patient outcomes. However, the accuracy of registry data related to suicide has not been well studied. OBJECTIVE: This study sought to evaluate the accuracy of current trauma registry coding practices related to labeling injury as a suicide attempt among patients presenting to a Level I trauma center after self-inflicted injury. METHODS: We conducted a single-center, retrospective cohort analysis of a Level I trauma center trauma registry on all patients with self-inflicted injuries from 2011 to 2021. Manual chart review was used to identify cases wherein patients' injuries were categorized as suicidal despite the absence of suicidal intent. RESULTS: During this 11-year period, 537 patients were identified as having presented to the trauma center for traumatic self-inflicted injuries. Manual chart review revealed that 16% of these patients were incorrectly categorized as having attempted suicide despite their self-inflicted injury lacking suicidal intent (e.g., accidents, nonsuicidal self-harm). CONCLUSION: We found that 16% of trauma registry patients were overcategorized as having attempted suicide. Trauma registry data are an important source of information for activities related to injury prevention in trauma centers. Imprecise coding of self-inflicted injury may lead to poorly targeted programs and interventions due to incorrectly represented injury causes and patterns in trauma patient populations, including suicide prevention. [ABSTRACT FROM AUTHOR]

Published
2023
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12. Disparities in disposition from trauma centers to inpatient psychiatric treatment in a national sample of patients with self-inflicted injury.

Author

Schramm, Andrew T., "Libby" Schroeder, Mary E., Brandolino, Amber M., Kant, Jacey M., Kohlbeck, Sara A., Bergner, Carisa, Milia, David J., and deRoon-Cassini, Terri A.

Abstract

Surgery providers are integral to the treatment of patients with self-inflicted injuries. Patient disposition (eg, home, inpatient psychiatric treatment, rehabilitation) is important to long-term outcomes, but little is known about factors influencing disposition after discharge following traumatic self-inflicted injury. We tested whether patient or injury characteristics were associated with disposition after treatment for self-inflicted injury. National Trauma Data Bank query for self-inflicted injuries from 2010 to 2018. There were 77,731 patients treated for self-inflicted injuries during the study period. Discharge home was the most common disposition (45%), and those without insurance were less likely to discharge to inpatient psychiatric treatment than those with insurance. Racial minority patients were less likely to discharge to inpatient psychiatric treatment (18.9%) than nonminority patients (23.8%, P <.001). Additionally, patients discharged to inpatient psychiatric treatment had significantly lower injury severity score (7.24 ± 7.5) than those who did not (8.69 ± 9.1, P <.001). Racial/ethnic minority patients and those without insurance were significantly less likely to discharge to an inpatient psychiatric facility after treatment at a trauma center for self-inflicted injury. Future research is needed to evaluate the internal factors (eg, trauma center practices) and external factors (eg, inpatient psychiatric facilities not accepting patients with wound care needs) driving disposition variability. [ABSTRACT FROM AUTHOR]

Published
2023
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13. Addressing the educational gap in the role of law enforcement personnel in the resuscitation bay.

Author

Schroeder, Mary E., Brandolino, Amber, Williams, Kathleen, McIntosh, Brady, Pilarski, Alicia M., Milia, David J., and deRoon-Cassini, Terri

Abstract

Health care workers are often uncertain of the role of law enforcement personnel in the resuscitation bay. A cross-sectional, quality improvement project was designed with an educational intervention to address the knowledge gaps. There were 2 sessions for trauma surgery and emergency medicine faculty, residents, and staff. The first was a formal presentation by hospital risk management and security focused on answering questions generated by real-life scenarios. After reviewing feedback from the first session, the second session was designed as a panel discussion led by attending physicians who reviewed various clinical scenarios. A pre/postsurvey was administered, including potential clinical scenarios with multiple-choice answers and open feedback. There were 64 presurvey and 31 postsurvey respondents from the first session (48.4%). Significantly more questions were answered correctly from pre to postsurvey (5.5 vs 6.7/16 questions; U = 798.0, P =.048). Of the 14 (45.2%) respondents who provided open-ended feedback, 50% indicated confusion, and 21.4% expressed strong, negative emotions. In the second session, there were 39 presurvey and 18 postsurvey respondents (46.2%). Again, significantly more questions were answered correctly after the second session (2.2 vs 4.5/7 questions; U = 115.0, P ≤.001). Feedback highlighted that the panel format was considered more helpful than the formal didactic of the first session. Confusion about the role of law enforcement personnel in the clinical environment can be partially addressed using multidisciplinary joint conferences that should be led by clinicians to ensure real-life clinical applicability. Further education and law enforcement personnel role clarification for health care workers are critical to protect patient rights. [ABSTRACT FROM AUTHOR]

Published
2023
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14. Comprehensive Framework of Firearm Violence Survivor Care: A Review

Author

Timmer-Murillo, Sydney C., Schroeder, Mary E., Trevino, Colleen, Geier, Timothy J., Schramm, Andrew T., Brandolino, Amber M., Hargarten, Stephen, Holena, Daniel, de Moya, Marc, Milia, David, and deRoon-Cassini, Terri A.

Abstract

IMPORTANCE: Firearm violence is a public health crisis placing significant burden on individuals, communities, and health care systems. After firearm injury, there is increased risk of poor health, disability, and psychopathology. The newest 2022 guidelines from the American College of Surgeons Committee on Trauma require that all trauma centers screen for risk of psychopathology and provide referral to intervention. Yet, implementing these guidelines in ways that are responsive to the unique needs of communities and specific patient populations, such as after firearm violence, is challenging. OBSERVATIONS: The current review highlights important considerations and presents a model for trauma centers to provide comprehensive care to survivors of firearm injury. This model highlights the need to enhance standard practice to provide patient-centered, trauma-informed care, as well as integrate inpatient and outpatient psychological services to address psychosocial needs. Further, incorporation of violence prevention programming better addresses firearm injury as a public health concern. CONCLUSIONS AND RELEVANCE: Using research to guide a framework for trauma centers in comprehensive care after firearm violence, we can prevent complications to physical and psychological recovery for this population. Health systems must acknowledge the socioecological context of firearm violence and provide more comprehensive care in the hospital and after discharge, to improve long-term recovery and serve as a means of tertiary prevention of firearm violence.

Published
2023
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15. Developing a National Trauma Research Action Plan: Results from the long-term outcomes research gap Delphi survey.

Author

Herrera-Escobar, Juan P., Reidy, Emma, Phuong, Jimmy, Brasel, Karen J., Cuschieri, Joseph, Fallat, Mary, Potter, Benjamin K., Price, Michelle A., Bulger, Eileen M., Haider, Adil H., Bonne, Stephanie, de Roon-Cassini, Terri, Dicker, Rochelle A., Ficke, James R., Gabbe, Belinda, Gibran, Nicole S., Heinemann, Allen W., Ho, Vanessa, Kao, Lillian S., and Kellam, James F.

Published
2022
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16. Minimally invasive vs. open segmental resection of the splenic flexure for cancer: a nationwide study of the Italian Society of Surgical Oncology-Colorectal Cancer Network (SICO-CNN)

Author

Degiuli, Maurizio, Ortenzi, Monica, Tomatis, Mariano, Puca, Lucia, Cianflocca, Desiree, Rega, Daniela, Maroli, Annalisa, Elmore, Ugo, Pecchini, Francesca, Milone, Marco, La Mendola, Roberta, Soligo, Erica, Deidda, Simona, Spoletini, Domenico, Cassini, Diletta, Aprile, Alessandra, Mineccia, Michela, Nikaj, Herald, Marchegiani, Francesco, Maiello, Fabio, Bombardini, Cristina, Zuolo, Michele, Carlucci, Michele, Ferraro, Luca, Falato, Armando, Biondi, Alberto, Persiani, Roberto, Marsanich, Patrizia, Fusario, Daniele, Solaini, Leonardo, Pollesel, Sara, Rizzo, Gianluca, Coco, Claudio, Di Leo, Alberto, Cavaliere, Davide, Roviello, Franco, Muratore, Andrea, D’Ugo, Domenico, Bianco, Francesco, Bianchi, Paolo Pietro, De Nardi, Paola, Rigamonti, Marco, Anania, Gabriele, Belluco, Claudio, Polastri, Roberto, Pucciarelli, Salvatore, Gentilli, Sergio, Ferrero, Alessandro, Scabini, Stefano, Baldazzi, Gianandrea, Carlini, Massimo, Restivo, Angelo, Testa, Silvio, Parini, Dario, De Palma, Giovanni Domenico, Piccoli, Micaela, Rosati, Riccardo, Spinelli, Antonino, Delrio, Paolo, Borghi, Felice, Guerrieri, Marco, and Reddavid, Rossella

Abstract

Background: Evidence on the efficacy of minimally invasive (MI) segmental resection of splenic flexure cancer (SFC) is not available, mostly due to the rarity of this tumor. This study aimed to determine the survival outcomes of MI and open treatment, and to investigate whether MI is noninferior to open procedure regarding short-term outcomes. Methods: This nationwide retrospective cohort study included all consecutive SFC segmental resections performed in 30 referral centers between 2006 and 2016. The primary endpoint assessing efficacy was the overall survival (OS). The secondary endpoints included cancer-specific mortality (CSM), recurrence rate (RR), short-term clinical outcomes (a composite of Clavien-Dindo > 2 complications and 30-day mortality), and pathological outcomes (a composite of lymph nodes removed ≧12, and proximal and distal free resection margins length ≧ 5 cm). For these composites, a 6% noninferiority margin was chosen based on clinical relevance estimate. Results : A total of 606 patients underwent either an open (208, 34.3%) or a MI (398, 65.7%) SFC segmental resection. At univariable analysis, OS and CSM were improved in the MI group (log-rank test p= 0.004 and Gray’s tests p= 0.004, respectively), while recurrences were comparable (Gray’s tests p= 0.434). Cox multivariable analysis did not support that OS and CSM were better in the MI group (p= 0.109 and p= 0.163, respectively). Successful pathological outcome, observed in 53.2% of open and 58.3% of MI resections, supported noninferiority (difference 5.1%; 1-sided 95%CI − 4.7% to ∞). Successful short-term clinical outcome was documented in 93.3% of Open and 93.0% of MI procedures, and supported noninferiority as well (difference − 0.3%; 1-sided 95%CI − 5.0% to ∞). Conclusions: Among patients with SFC, the minimally invasive approach met the criterion for noninferiority for postoperative complications and pathological outcomes, and was found to provide results of OS, CSM, and RR comparable to those of open resection.

Published
2023
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17. Results from part A of the multi-center, double-blind, randomized, placebo-controlled NefIgArd trial, which evaluated targeted-release formulation of budesonide for the treatment of primary immunoglobulin A nephropathy

Author

Barratt, Jonathan, Lafayette, Richard, Kristensen, Jens, Stone, Andrew, Cattran, Daniel, Floege, Jürgen, Tesar, Vladimir, Trimarchi, Hernán, Zhang, Hong, Eren, Necmi, Paliege, Alexander, Rovin, Brad H., Fragale, Guillermo, Karl, Alejandra, Losisolo, Patricia, Trimarchi, Hernán, Hoyos, Ivan Gonzalez, Lampo, Mauro Guillermo, Monkowski, Matias, De La Fuente, Jorge, Alvarez, Magdalena, Stoppa, Daniela, Chiurchiu, Carlos, Novoa, Pablo Antonio, Orias, Marcelo, Barron, Maria Belen, Giotto, Ana, Arriola, Mariano, Cassini, Evelin, Maldonado, Rafael, Dionisi, Maria Paula, Ryan, Jessica, Toussaint, Nigel, Luxton, Grant, Peh, Chen Au, Levidiotis, Vicki, Francis, Ross, Phoon, Richard, Fedosiuk, Elena, Toropilov, Dmitry, Yakubtsevich, Ruslan, Mikhailova, Elena, Bovy, Christophe, Demoulin, Nathalie, Hougardy, Jean-Michel, Maes, Bart, Speeckaert, Marijn, Laurin, Louis-Philippe, Barbour, Sean, Masse, Melanie, Hladunewich, Michelle, Reich, Heather, Cournoyer, Serge, Tennankore, Karthik, Barbour, Sean, Lv, Jicheng, Liu, Zhangsuo, Wang, Caili, Li, Shaomei, Luo, Qun, Ni, Zhaohui, Yan, Tiekun, Fu, Ping, Cheng, Hong, Liu, Bicheng, Lu, Wanhong, Wang, Jianqin, Chen, Qinkai, Wang, DeGuang, Xiong, Zuying, Chen, Menghua, Xu, Yan, Wei, Jiali, Pai, Pearl, Chen, Lianhua, Rehorova, Jitka, Maixnerova, Dita, Safranek, Roman, Rychlik, Ivan, Hruby, Miroslav, Makela, Satu, Vaaraniemi, Kati, Ortiz, Fernanda, Alamartine, Eric, Daroux, Maite, Cartery, Claire, Vrtovsnik, Francois, Serre, Jean-Emmanuel, Stamellou, Eleni, Vielhauer, Volker, Hugo, Christian, Budde, Klemens, Otte, Britta, Nitschke, Martin, Ntounousi, Evangelia, Boletis, Ioannis, Papagianni, Aikaterini, Goumenos, Dimitrios, Stylianou, Konstantinos, Zermpala, Synodi, Esposito, Ciro, Cozzolino, Mario Gennaro, Viganò, Sara Maria, Gesualdo, Loreto, Nowicki, Michal, Stompor, Tomasz, Kurnatowska, Ilona, Kim, Sung Gyun, Kim, Yong-Lim, Na, Ki-Ryang, Kim, Dong Ki, Kim, Su-Hyun, Porras, Luis Quintana, Garcia, Eva Rodriguez, Pamplona, Irene Agraz, Segarra, Alfons, Goicoechea, Marian, Fellstrom, Bengt, Lundberg, Sigrid, Hemmingsson, Peter, Guron, Gregor, Sandell, Anna, Chen, Cheng-Hsu, Tokgoz, Bulent, Duman, Soner, Altiparmak, Mehmet Riza, Ergul, Metin, Maxwell, Peter, Mark, Patrick, McCafferty, Kieran, Khwaja, Arif, Cheung, Chee Kay, Hall, Matthew, Power, Albert, Kanigicherla, Durga, Baker, Richard, Moriarty, Jim, Mohamed, Amr, Aiello, Joseph, Canetta, Pietro, Ayoub, Isabelle, Robinson, Derrick, Thakar, Surabhi, Mottl, Amy, Sachmechi, Isaac, Fischbach, Bernard, Singh, Harmeet, Mulhern, Jeffrey, Kamal, Fahmeedah, Linfert, Douglas, Rizk, Dana, Wadhwani, Shikha, Sarav, Menaka, Campbell, Kirk, Coppock, Gaia, Luciano, Randy, Sedor, John, Avasare, Rupali, and Lau, Wai Lang

Abstract

The therapeutic potential of a novel, targeted-release formulation of oral budesonide (Nefecon) for the treatment of IgA nephropathy (IgAN) was first demonstrated by the phase 2b NEFIGAN trial. To verify these findings, the phase 3 NefigArd trial tested the efficacy and safety of nine months of treatment with Nefecon (16 mg/d) versus placebo in adult patients with primary IgAN at risk of progressing to kidney failure (ClinicalTrials.gov: NCT03643965). NefIgArd was a multicenter, randomized, double-blind, placebo-controlled two-part trial. In Part A, 199 patients with IgAN were treated with Nefecon or placebo for nine months and observed for an additional three months. The primary endpoint for Part A was 24-hour urine protein-to-creatinine ratio (UPCR) after nine months. Secondary efficacy outcomes evaluated included estimated glomerular filtration rate (eGFR) at nine and 12 months and the UPCR at 12 months. At nine months, UPCR was 27% lower in the Nefecon group compared with placebo, along with a benefit in eGFR preservation corresponding to a 3.87 ml/min/1.73 m2difference versus placebo (both significant). Nefecon was well-tolerated, and treatment-emergent adverse events were mostly mild to moderate in severity and reversible. Part B is ongoing and will be reported on later. Thus, NefIgArd is the first phase 3 IgA nephropathy trial to show clinically important improvements in UPCR and eGFR and confirms the findings from the phase 2b NEFIGAN study.

Published
2023
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18. Association of Gender, Race, Mechanism of Injury on Alcohol Use, Posttraumatic Stress Disorder, and Depression in Trauma.

Author

Trevino, Colleen M., Shorey, Ryan C., Bergner, Carisa, Brandolino, Amber, deRoon-Cassini, Terri, and France, Christopher R.

Subjects
GUNSHOT wounds, ALCOHOLISM, TRAFFIC accidents, RACE, POST-traumatic stress disorder, RETROSPECTIVE studies, CONTINUING education units, SEX distribution, RISK assessment, MENTAL depression, QUESTIONNAIRES, CHI-squared test, DESCRIPTIVE statistics, ACCIDENTAL falls, WOUNDS & injuries, LOGISTIC regression analysis, COVID-19 pandemic
Abstract

BACKGROUND: There is a paucity of literature documenting whether trauma patients with different mechanisms of injury have different rates of hazardous alcohol use and/or risk for depression and posttraumatic stress disorder. OBJECTIVE: The purpose of this article is to determine whether there are associations between mechanism of injury, hazardous drinking, depression, and posttraumatic stress disorder. Secondary objectives were to examine associations prior to and after the onset of the COVID-19 pandemic. METHODS: This is a retrospective cohort study of 5 years of trauma registry data of adult trauma patients (older than 18 years) admitted to a Midwestern Level I trauma center conducted from January 2016 to November 2020. Multivariable logistic regression analyses were performed to explore the association of gender, race, and mechanism of injury on hazardous drinking and posttraumatic stress disorder and depression. RESULTS: A total of 9,392 trauma patients completed the Alcohol Use Disorders Identification Test—Consumption Items to identify hazardous drinking, and 5,012 completed the Injured Trauma Survivor Screen to identify risk for developing posttraumatic stress disorder and/or depression. The proportion of patients screening positive for hazardous drinking was higher for motor vehicle collisions (21.9%) than for gunshot wounds (17.6%) or falls (18.8%; χ2(2) = 14.311, p <.001). Those involved in motor vehicle collisions were also at a higher risk for the development of depression and posttraumatic stress disorder (54.5%) relative to falls (33.5%) but not gunshot wounds (50.7%; χ2(2) = 200.185, p <.001). The impact of COVID-19 revealed increased hazardous drinking, depression, and posttraumatic stress disorder in patients with falls and motor vehicle collisions but not gunshot wounds. CONCLUSIONS: Motor vehicle collision patients are at most risk for hazardous drinking concomitant with risk for depression and posttraumatic stress disorder. These results help focus future research efforts toward interventions that can reduce these risks. [ABSTRACT FROM AUTHOR]

Published
2022
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20. History of Racial Discrimination by Police Contributes to Worse Physical and Emotional Quality of Life in Black Americans After Traumatic Injury

Author

Geier, Timothy J., Timmer-Murillo, Sydney C., Brandolino, Amber M., Piña, Isela, Harb, Farah, and deRoon-Cassini, Terri A.

Abstract

Background: Black Americans are more likely than their White counterparts to experience traumatic injury and worse functional outcomes. Unfair police treatment has been identified as one specific form of racial discrimination potentially driving these deleterious outcomes. The aim of the investigation was to better understand the relationship between experiences of discrimination by police and trauma-specific quality of life outcomes, including PTSD symptom severity, in Black Americans following traumatic injury. Method: Traumatically injured Black American adults (N= 53) presenting to a level 1 trauma center completed a measure of police and law enforcement discrimination at baseline, and quality of life and PTSD were assessed 6 months later. Results: Stepwise regressions results showed more frequent discrimination by police and law enforcement significantly predicted lower emotional and physical well-being 6 months after injury. Further, more frequent police discrimination resulted in more severe PTSD symptoms by 6 months after injury. Conclusions: Findings underscore that following an injury not specifically related to discrimination by police, patients’ historical, negative police experiences contributed to worse physical and emotional recovery in the present. These findings, in unison with prior investigations, reveal the need to consider patients’ history of negative police experiences as a social determinant of health in their recovery.

Published
2023
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21. Risk of retinal vein occlusion following COVID-19 vaccination: a self-controlled case series

Author

Pellegrini, Marco, Carnevali, Adriano, Fiore, Tito, Cagini, Carlo, De Palma, Antonella, Fontana, Luigi, Lupardi, Enrico, Cassini, Federico, Bacherini, Daniela, Giansanti, Fabrizio, Giannaccare, Giuseppe, Scorcia, Vincenzo, Vaccaro, Sabrina, Ciarmatori, Nicolò, D’Angelo, Sergio, Parmeggiani, Francesco, and Mura, Marco

Abstract

Background: To evaluate the association between COVID-19 vaccination and retinal vein occlusion (RVO). Methods: This multicentre self-controlled case series included patients with RVO seen in five tertiary referral centres in Italy. All adults who received at least one dose of the BNT162b2, ChAdOx1 nCoV-19, mRNA-1273 or Ad26.COV2.S vaccine and had a first diagnosis of RVO between January 01, 2021, and December 31, 2021 were included. Incidence rate ratios (IRRs) of RVO were estimated using Poisson regression, comparing rates of events in a 28-day period following each dose of vaccination and in the unexposed control periods. Results: 210 patients were included in the study. No increased risk of RVO was observed after the first dose (1–14 days IRR: 0.87, 95% CI: 0.41–1.85; 15–28 days IRR: 1.01, 95% CI: 0.50–2.04; 1–28 days IRR: 0.94, 95% CI: 0.55–1.58) and second dose of vaccination (1–14 days IRR: 1.21, 95% CI: 0.62–2.37; 15–28 days IRR: 1.08, 95% CI: 0.53–2.20; 1–28 days IRR: 1.16, 95% CI: 0.70–1.90). No association between RVO and vaccination was found in subgroup analyses by type of vaccine, gender and age. Conclusions: This self-controlled case series found no evidence of an association between RVO and COVID-19 vaccination.

Published
2023
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22. Developing a National Trauma Research Action Plan: Results from the long-term outcomes research gap Delphi survey

Author

Herrera-Escobar, Juan P., Reidy, Emma, Phuong, Jimmy, Brasel, Karen J., Cuschieri, Joseph, Fallat, Mary, Potter, Benjamin K., Price, Michelle A., Bulger, Eileen M., Haider, Adil H., Bonne, Stephanie, Brasel, Karen J., Cuschieri, Joseph, de Roon-Cassini, Terri, Dicker, Rochelle A., Fallat, Mary, Ficke, James R., Gabbe, Belinda, Gibran, Nicole S., Heinemann, Allen W., Ho, Vanessa, Kao, Lillian S., Kellam, James F., Kurowski, Brad G., Levy-Carrick, Nomi C., Livingston, David, Mandell, Samuel P., Manley, Geoffrey T., Michetti, Christopher P., Miller, Anna N., Newcomb, Anna, Okonkwo, David, Potter, Benjamin K., Seamon, Mark, Stein, Deborah, Wagner, Amy K., Whyte, John, Yonclas, Peter, Zatzick, Douglas, and Zielinski, Martin D.

Abstract

Research on long-term trauma outcomes is scant and must be prioritized as a whole. In this consensus-driven Delphi survey, the most prevalent topic areas among high priority research questions are mental health, post-discharge health services, and the geriatric population.

Published
2022
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26. The Undiagnosed Diseases Network: Characteristics of solvable applicants and diagnostic suggestions for nonaccepted ones

Author

Mulvihill, John J., Findley, Laura, Ni, Weihong, Sinsheimer, Janet S., Cole, F. Session, Esteves, Cecilia, Bernstein, Jonathan A., Newman, John H., Wheeler, Matthew T., Mokry, Jill R., Acosta, Maria T., Adams, David R., Afzali, Ben, Al-Beshri, Ali, Allworth, Aimee, Alvarez, Raquel L., Alvey, Justin, Andrews, Ashley, Ashley, Euan A., Bacino, Carlos A., Bademci, Guney, Balasubramanyam, Ashok, Baldridge, Dustin, Bale, Jim, Bamshad, Michael, Barbouth, Deborah, Bayrak-Toydemir, Pinar, Beck, Anita, Beggs, Alan H., Behrens, Edward, Bejerano, Gill, Bellen, Hugo J., Bennett, Jimmy, Bernstein, Jonathan A., Berry, Gerard T., Bican, Anna, Bivona, Stephanie, Blue, Elizabeth, Bohnsack, John, Bonner, Devon, Borja, Nicholas, Botto, Lorenzo, Briere, Lauren C., Burke, Elizabeth A., Burrage, Lindsay C., Butte, Manish J., Byers, Peter, Byrd, William E., Callaway, Kaitlin, Carey, John, Carvalho, George, Cassini, Thomas, Chanprasert, Sirisak, Chao, Hsiao-Tuan, Chinn, Ivan, Clark, Gary D., Coakley, Terra R., Cobban, Laurel A., Cogan, Joy D., Coggins, Matthew, Cole, F. Sessions, Corner, Brian, Corona, Rosario I., Craigen, William J., Crouse, Andrew B., Cuddapah, Vishnu, Cunningham, Michael, D’Souza, Precilla, Dai, Hongzheng, Dasari, Surendra, Davis, Joie, Delgado, Margaret, Dell’Angelica, Esteban C., Dipple, Katrina, Doherty, Daniel, Dorrani, Naghmeh, Douglas, Jessica, Douine, Emilie D., Earl, Dawn, Emrick, Lisa T., Eng, Christine M., Ezell, Kimberly, Fieg, Elizabeth L., Fisher, Paul G., Fogel, Brent L., Fu, Jiayu, Gahl, William A., Ganetzky, Rebecca, Glanton, Emily, Glass, Ian, Goddard, Page C., Gonzalez, Joanna M., Gropman, Andrea, Halley, Meghan C., Hamid, Rizwan, Hanchard, Neal, Hassey, Kelly, Hayes, Nichole, High, Frances, Hing, Anne, Hisama, Fuki M., Holm, Ingrid A., Hom, Jason, Horike-Pyne, Martha, Huang, Alden, Huang, Yan, Hurst, Anna, Introne, Wendy, Jarvik, Gail P., Jarvik, Jeffrey, Jayadev, Suman, Marie, Orpa Jean-, Jobanputra, Vaidehi, Kaitryn, Emerald, Kanca, Oguz, Karasozen, Yigit, Ketkar, Shamika, Kiley, Dana, Kilich, Gonench, Kobren, Shilpa N., Kohane, Isaac S., Kohler, Jennefer N., Korf, Bruce, Korrick, Susan, Krakow, Deborah, Kravets, Elijah, Lalani, Seema R., Lam, Christina, Lanpher, Brendan C., Lanza, Ian R., Latchman, Kumarie, LeBlanc, Kimberly, Lee, Brendan H., Lewis, Richard A., Liu, Pengfei, Longo, Nicola, Loscalzo, Joseph, Maas, Richard L., Macnamara, Ellen F., MacRae, Calum A., Maduro, Valerie V., Maghiro, Audrey Stephannie, Mahoney, Rachel, Malicdan, May Christine V., Mao, Rong, Marom, Ronit, Marth, Gabor, Martin, Beth A., Martin, Martin G., Martínez-Agosto, Julian A., Marwaha, Shruti, McConkie-Rosell, Allyn, McCray, Alexa T., Might, Matthew, Mikati, Mohamad, Miller, Danny, Mirzaa, Ghayda, Morava, Eva, Moretti, Paolo, Morimoto, Marie, Mulvihill, John J., Nakano-Okuno, Mariko, Nelson, Stanley F., Neumann, Serena, Novacic, Donna, Oglesbee, Devin, Orengo, James P., Pace, Laura, Pak, Stephen, Pallais, J. Carl, Parker, Neil H., Peart, LéShon, Petcharet, Leoyklang, Phillips, John A., Posey, Jennifer E., Potocki, Lorraine, Pusey Swerdzewski, Barbara N., Quinlan, Aaron, Rajagopalan, Ramakrishnan, Rao, Deepak A., Raper, Anna, Raskind, Wendy, Rebelo, Adriana, Reuter, Chloe M., Rives, Lynette, Robertson, Amy K., Rodan, Lance H., Rodriguez, Martin, Rosenfeld, Jill A., Rosenthal, Elizabeth, Rossignol, Francis, Ruzhnikov, Maura, Sabaii, Marla, Sampson, Jacinda B., Schedl, Timothy, Schoch, Kelly, Scott, Daryl A., Seto, Elaine, Shashi, Vandana, Shelkowitz, Emily, Sheppeard, Sam, Shin, Jimann, Silverman, Edwin K., Sisco, Kathy, Skelton, Tammi, Skraban, Cara, Smith, Carson A., Smith, Kevin S., Solnica-Krezel, Lilianna, Solomon, Ben, Spillmann, Rebecca C., Stergachis, Andrew, Stoler, Joan M., Sullivan, Kathleen, Sutton, Shirley, Sweetser, David A., Sybert, Virginia, Tabor, Holly K., Tan, Queenie K.-G., Tan, Amelia L.M., Tarakad, Arjun, Taylor, Herman, Tekin, Mustafa, Thorson, Willa, Tifft, Cynthia J., Toro, Camilo, Tran, Alyssa A., Ungar, Rachel A., Vanderver, Adeline, Velinder, Matt, Viskochil, Dave, Vogel, Tiphanie P., Wahl, Colleen E., Walker, Melissa, Walley, Nicole M., Wambach, Jennifer, Wangler, Michael F., Ward, Patricia A., Wegner, Daniel, Hubshman, Monika Weisz, Wener, Mark, Wenger, Tara, Westerfield, Monte, Wheeler, Matthew T., Whitlock, Jordan, Wolfe, Lynne A., Wood, Heidi, Worley, Kim, Yamamoto, Shinya, Zhang, Zhe, and Zuchner, Stephan

Abstract

Can certain characteristics identify as solvable some undiagnosed patients who seek extensive evaluation and thorough record review, such as by the Undiagnosed Diseases Network (UDN)?

Published
2024
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27. Dominant missense variants in SREBF2are associated with complex dermatological, neurological, and skeletal abnormalities

Author

Moulton, Matthew J., Atala, Kristhen, Zheng, Yiming, Dutta, Debdeep, Grange, Dorothy K., Lin, Wen-Wen, Wegner, Daniel J., Wambach, Jennifer A., Duker, Angela L., Bober, Michael B., Kratz, Lisa, Wise, Carol A., Oxendine, Ila, Khanshour, Anas, Bacino, Carlos A., Balasubramanyam, Ashok, Burrage, Lindsay C., Chao, Hsiao-Tuan, Chinn, Ivan, Clark, Gary D., Craigen, William J., Dai, Hongzheng, Emrick, Lisa T., Ketkar, Shamika, Lalani, Seema R., Lee, Brendan H., Lewis, Richard A., Marom, Ronit, Orengo, James P., Posey, Jennifer E., Potocki, Lorraine, Rosenfeld, Jill A., Seto, Elaine, Scott, Daryl A., Tarakad, Arjun, Tran, Alyssa A., Vogel, Tiphanie P., Hubshman, Monika Weisz, Worley, Kim, Bellen, Hugo J., Wangler, Michael F., Yamamoto, Shinya, Kanca, Oguz, Eng, Christine M., Liu, Pengfei, Ward, Patricia A., Behrens, Edward, Falk, Marni, Hassey, Kelly, Izumi, Kosuke, Kilich, Gonench, Sullivan, Kathleen, Vanderver, Adeline, Zhang, Zhe, Raper, Anna, Jobanputra, Vaidehi, Mikati, Mohamad, McConkie-Rosell, Allyn, Schoch, Kelly, Shashi, Vandana, Spillmann, Rebecca C., Tan, Queenie K.-G., Walley, Nicole M., Beggs, Alan H., Berry, Gerard T., Briere, Lauren C., Cobban, Laurel A., Coggins, Matthew, Fieg, Elizabeth L., High, Frances, Holm, Ingrid A., Korrick, Susan, Loscalzo, Joseph, Maas, Richard L., MacRae, Calum A., Pallais, J. Carl, Rao, Deepak A., Rodan, Lance H., Silverman, Edwin K., Stoler, Joan M., Sweetser, David A., Walker, Melissa, Douglas, Jessica, Glanton, Emily, Kobren, Shilpa N., Kohane, Isaac S., LeBlanc, Kimberly, Maghiro, Audrey Stephannie C., Mahoney, Rachel, McCray, Alexa T., Tan, Amelia L.M., Dasari, Surendra, Lanpher, Brendan C., Lanza, Ian R., Morava, Eva, Oglesbee, Devin, Bademci, Guney, Barbouth, Deborah, Bivona, Stephanie, Borja, Nicholas, Gonzalez, Joanna M., Latchman, Kumarie, Peart, LéShon, Rebelo, Adriana, Smith, Carson A., Tekin, Mustafa, Thorson, Willa, Zuchner, Stephan, Taylor, Herman, Colley, Heather A., Dayal, Jyoti G., Doss, Argenia L., Eckstein, David J., Hutchison, Sarah, Krasnewich, Donna M., Mamounas, Laura A., Manolio, Teri A., Urv, Tiina K., Acosta, Maria T., D'Souza, Precilla, Gropman, Andrea, Macnamara, Ellen F., Maduro, Valerie V., Mulvihill, John J., Novacic, Donna, Pusey Swerdzewski, Barbara N., Toro, Camilo, Wahl, Colleen E., Adams, David R., Afzali, Ben, Burke, Elizabeth A., Davis, Joie, Delgado, Margaret, Fu, Jiayu, Gahl, William A., Hanchard, Neil, Huang, Yan, Introne, Wendy, Jean-Marie, Orpa, Malicdan, May Christine V., Morimoto, Marie, Petcharet, Leoyklang, Rossignol, Francis, Sabaii, Marla, Solomon, Ben, Tifft, Cynthia J., Wolfe, Lynne A., Wood, Heidi, Allworth, Aimee, Bamshad, Michael, Beck, Anita, Bennett, Jimmy, Blue, Elizabeth, Byers, Peter, Chanprasert, Sirisak, Cunningham, Michael, Dipple, Katrina, Doherty, Daniel, Earl, Dawn, Glass, Ian, Hing, Anne, Hisama, Fuki M., Horike-Pyne, Martha, Jarvik, Gail P., Jarvik, Jeffrey, Jayadev, Suman, Kaitryn, Emerald, Lam, Christina, Miller, Danny, Mirzaa, Ghayda, Raskind, Wendy, Rosenthal, Elizabeth, Shelkowitz, Emily, Sheppeard, Sam, Stergachis, Andrew, Sybert, Virginia, Wener, Mark, Wenger, Tara, Alvarez, Raquel L., Bejerano, Gill, Bernstein, Jonathan A., Bonner, Devon, Coakley, Terra R., Fisher, Paul G., Goddard, Page C., Halley, Meghan C., Hom, Jason, Kohler, Jennefer N., Kravets, Elijah, Martin, Beth A., Marwaha, Shruti, Reuter, Chloe M., Ruzhnikov, Maura, Sampson, Jacinda B., Smith, Kevin S., Sutton, Shirley, Tabor, Holly K., Ungar, Rachel A., Wheeler, Matthew T., Ashley, Euan A., Byrd, William E., Crouse, Andrew B., Might, Matthew, Nakano-Okuno, Mariko, Whitlock, Jordan, Butte, Manish J., Corona, Rosario, Dell'Angelica, Esteban C., Dorrani, Naghmeh, Douine, Emilie D., Fogel, Brent L., Huang, Alden, Krakow, Deborah, Loo, Sandra K., Martin, Martin G., Martínez-Agosto, Julian A., McGee, Elisabeth, Nelson, Stanley F., Nieves-Rodriguez, Shirley, Papp, Jeanette C., Parker, Neil H., Renteria, Genecee, Sinsheimer, Janet S., Wan, Jijun, Alvey, Justin, Andrews, Ashley, Bale, Jim, Bohnsack, John, Botto, Lorenzo, Carey, John, Longo, Nicola, Moretti, Paolo, Pace, Laura, Quinlan, Aaron, Velinder, Matt, Viskochil, Dave, Marth, Gabor, Bayrak-Toydemir, Pinar, Mao, Rong, Westerfield, Monte, Bican, Anna, Cassini, Thomas, Corner, Brian, Hamid, Rizwan, Neumann, Serena, Phillips, John A., Rives, Lynette, Robertson, Amy K., Ezell, Kimberly, Cogan, Joy D., Hayes, Nichole, Kiley, Dana, Sisco, Kathy, Wambach, Jennifer, Wegner, Daniel, Baldridge, Dustin, Cole, F. Sessions, Pak, Stephen, Schedl, Timothy, Shin, Jimann, Solnica-Krezel, Lilianna, Wangler, Michael F., Yamamoto, Shinya, Cole, F. Sessions, Rios, Jonathan, and Bellen, Hugo J.

Abstract

We identified 2 individuals with de novo variants in SREBF2that disrupt a conserved site 1 protease (S1P) cleavage motif required for processing SREBP2 into its mature transcription factor. These individuals exhibit complex phenotypic manifestations that partially overlap with sterol regulatory element binding proteins (SREBP) pathway-related disease phenotypes, but SREBF2-related disease has not been previously reported. Thus, we set out to assess the effects of SREBF2variants on SREBP pathway activation.

Published
2024
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28. Loss of function of FAM177A1, a Golgi complex localized protein, causes a novel neurodevelopmental disorder

Author

Kohler, Jennefer N., Legro, Nicole R., Baldridge, Dustin, Shin, Jimann, Bowman, Angela, Ugur, Berrak, Jackstadt, Madelyn M., Shriver, Leah P., Patti, Gary J., Zhang, Bo, Feng, Wenjia, McAdow, Anthony R., Goddard, Pagé, Ungar, Rachel A., Jensen, Tanner, Smith, Kevin S., Fresard, Laure, Alvarez, Raquel, Bonner, Devon, Reuter, Chloe M., McCormack, Colleen, Kravets, Elijah, Marwaha, Shruti, Holt, James M., Acosta, Maria T., Adam, Margaret, Adams, David R., Alvarez, Raquel L., Alvey, Justin, Amendola, Laura, Andrews, Ashley, Ashley, Euan A., Bacino, Carlos A., Bademci, Guney, Balasubramanyam, Ashok, Baldridge, Dustin, Bale, Jim, Bamshad, Michael, Barbouth, Deborah, Bayrak-Toydemir, Pinar, Beck, Anita, Beggs, Alan H., Behrens, Edward, Bejerano, Gill, Bellen, Hugo J., Bennett, Jimmy, Berg-Rood, Beverly, Bernstein, Jonathan A., Berry, Gerard T., Bican, Anna, Bivona, Stephanie, Blue, Elizabeth, Bohnsack, John, Bonner, Devon, Botto, Lorenzo, Boyd, Brenna, Briere, Lauren C., Burke, Elizabeth A., Burrage, Lindsay C., Butte, Manish J., Byers, Peter, Byrd, William E., Carey, John, Carrasquillo, Olveen, Cassini, Thomas, Chang, Ta Chen Peter, Chanprasert, Sirisak, Chao, Hsiao-Tuan, Chinn, Ivan, Clark, Gary D., Coakley, Terra R., Cobban, Laurel A., Cogan, Joy D., Coggins, Matthew, Sessions Cole, F., Colley, Heather A., Cope, Heidi, Corner, Brian, Corona, Rosario, Craigen, William J., Crouse, Andrew B., Cunningham, Michael, D’Souza, Precilla, Dai, Hongzheng, Dasari, Surendra, Davis, Joie, Dayal, Jyoti G., Dell’Angelica, Esteban C., Dickson, Patricia, Dipple, Katrina, Doherty, Daniel, Dorrani, Naghmeh, Doss, Argenia L., Douine, Emilie D., Earl, Dawn, Eckstein, David J., Emrick, Lisa T., Eng, Christine M., Ezell, Kimberly, Falk, Marni, Fieg, Elizabeth L., Fisher, Paul G., Fogel, Brent L., Forghani, Irman, Gahl, William A., Glass, Ian, Gochuico, Bernadette, Goddard, Page C., Godfrey, Rena A., Golden-Grant, Katie, Grajewski, Alana, Hadley, Don, Hahn, Sihoun, Halley, Meghan C., Hamid, Rizwan, Hassey, Kelly, Hayes, Nichole, High, Frances, Hing, Anne, Hisama, Fuki M., Holm, Ingrid A., Hom, Jason, Horike-Pyne, Martha, Huang, Alden, Hutchison, Sarah, Introne, Wendy, Isasi, Rosario, Izumi, Kosuke, Jamal, Fariha, Jarvik, Gail P., Jarvik, Jeffrey, Jayadev, Suman, Jean-Marie, Orpa, Jobanputra, Vaidehi, Karaviti, Lefkothea, Ketkar, Shamika, Kiley, Dana, Kilich, Gonench, Kobren, Shilpa N., Kohane, Isaac S., Kohler, Jennefer N., Korrick, Susan, Kozuira, Mary, Krakow, Deborah, Krasnewich, Donna M., Kravets, Elijah, Lalani, Seema R., Lam, Byron, Lam, Christina, Lanpher, Brendan C., Lanza, Ian R., LeBlanc, Kimberly, Lee, Brendan H., Levitt, Roy, Lewis, Richard A., Liu, Pengfei, Liu, Xue Zhong, Longo, Nicola, Loo, Sandra K., Loscalzo, Joseph, Maas, Richard L., Macnamara, Ellen F., MacRae, Calum A., Maduro, Valerie V., Maghiro, AudreyStephannie, Mahoney, Rachel, Malicdan, May Christine V., Mamounas, Laura A., Manolio, Teri A., Mao, Rong, Maravilla, Kenneth, Marom, Ronit, Marth, Gabor, Martin, Beth A., Martin, Martin G., Martínez-Agosto, Julian A., Marwaha, Shruti, McCauley, Jacob, McConkie-Rosell, Allyn, McCray, Alexa T., McGee, Elisabeth, Mefford, Heather, Lawrence Merritt, J., Might, Matthew, Mirzaa, Ghayda, Morava, Eva, Moretti, Paolo, Mulvihill, John, Nakano-Okuno, Mariko, Nelson, Stanley F., Neumann, Serena, Newman, John H., Nicholas, Sarah K., Nickerson, Deborah, Nieves-Rodriguez, Shirley, Novacic, Donna, Oglesbee, Devin, Orengo, James P., Pace, Laura, Pak, Stephen, Carl Pallais, J., Palmer, Christina G.S., Papp, Jeanette C., Parker, Neil H., Phillips, John A., Posey, Jennifer E., Potocki, Lorraine, Pusey Swerdzewski, Barbara N., Quinlan, Aaron, Rao, Deepak A., Raper, Anna, Raskind, Wendy, Renteria, Genecee, Reuter, Chloe M., Rives, Lynette, Robertson, Amy K., Rodan, Lance H., Rosenfeld, Jill A., Rosenwasser, Natalie, Rossignol, Francis, Ruzhnikov, Maura, Sacco, Ralph, Sampson, Jacinda B., Saporta, Mario, Schaechter, Judy, Schedl, Timothy, Schoch, Kelly, Scott, Daryl A., Ron Scott, C., Seto, Elaine, Shashi, Vandana, Shin, Jimann, Silverman, Edwin K., Sinsheimer, Janet S., Sisco, Kathy, Smith, Edward C., Smith, Kevin S., Solnica-Krezel, Lilianna, Solomon, Ben, Spillmann, Rebecca C., Stoler, Joan M., Sullivan, Kathleen, Sullivan, Jennifer A., Sun, Angela, Sutton, Shirley, Sweetser, David A., Sybert, Virginia, Tabor, Holly K., Tan, Queenie K.-G., Tan, Amelia L.M., Tarakad, Arjun, Tekin, Mustafa, Telischi, Fred, Thorson, Willa, Tifft, Cynthia J., Toro, Camilo, Tran, Alyssa A., Ungar, Rachel A., Urv, Tiina K., Vanderver, Adeline, Velinder, Matt, Viskochil, Dave, Vogel, Tiphanie P., Wahl, Colleen E., Walker, Melissa, Wallace, Stephanie, Walley, Nicole M., Wambach, Jennifer, Wan, Jijun, Wangler, Michael F., Ward, Patricia A., Wegner, Daniel, Hubshman, Monika Weisz, Wener, Mark, Wenger, Tara, Westerfield, Monte, Wheeler, Matthew T., Whitlock, Jordan, Wolfe, Lynne A., Worley, Kim, Xiao, Changrui, Yamamoto, Shinya, Yang, John, Zhang, Zhe, Zuchner, Stephan, Worthey, Elizabeth A., Ashley, Euan A., Montgomery, Stephen B., Fisher, Paul G., Postlethwait, John, De Camilli, Pietro, Solnica-Krezel, Lila, Bernstein, Jonathan A., and Wheeler, Matthew T.

Abstract

The function of FAM177A1and its relationship to human disease is largely unknown. Recent studies have demonstrated FAM177A1to be a critical immune-associated gene. One previous case study has linked FAM177A1to a neurodevelopmental disorder in 4 siblings.

Published
2024
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29. BTLA+CD200+B cells dictate the divergent immune landscape and immunotherapeutic resistance in metastatic vs. primary pancreatic cancer

Author

Diskin, Brian, Adam, Salma, Soto, Gustavo Sanchez, Liria, Miguel, Aykut, Berk, Sundberg, Belen, Li, Eric, Leinwand, Joshua, Chen, Ruonan, Kim, Mirhee, Salas, Ruben D., Cassini, Marcelo F., Buttar, Chandan, Wang, Wei, Farooq, Mohammad Saad, Shadaloey, Sorin A. A., Werba, Gregor, Fnu, Amreek, Yang, Fan, Hirsch, Carolina, Glinski, John, Panjwani, Angilee, Weitzner, Yael, Cohen, Deirdre, and Miller, George

Abstract

Response to cancer immunotherapy in primary versus metastatic disease has not been well-studied. We found primary pancreatic ductal adenocarcinoma (PDA) is responsive to diverse immunotherapies whereas liver metastases are resistant. We discovered divergent immune landscapes in each compartment. Compared to primary tumor, liver metastases in both mice and humans are infiltrated by highly anergic T cells and MHCIIloIL10+macrophages that are unable to present tumor-antigen. Moreover, a distinctive population of CD24+CD44−CD40−B cells dominate liver metastases. These B cells are recruited to the metastatic milieu by Muc1hiIL18hitumor cells, which are enriched >10-fold in liver metastases. Recruited B cells drive macrophage-mediated adaptive immune-tolerance via CD200 and BTLA. Depleting B cells or targeting CD200/BTLA enhanced macrophage and T-cell immunogenicity and enabled immunotherapeutic efficacy of liver metastases. Our data detail the mechanistic underpinnings for compartment-specific immunotherapy-responsiveness and suggest that primary PDA models are poor surrogates for evaluating immunity in advanced disease.

Published
2022
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34. A novel DPH5-related diphthamide-deficiency syndrome causing embryonic lethality or profound neurodevelopmental disorder

Author

Shankar, Suma P., Grimsrud, Kristin, Lanoue, Louise, Egense, Alena, Willis, Brandon, Hörberg, Johanna, AlAbdi, Lama, Mayer, Klaus, Ütkür, Koray, Monaghan, Kristin G., Krier, Joel, Stoler, Joan, Alnemer, Maha, Shankar, Prabhu R., Schaffrath, Raffael, Alkuraya, Fowzan S., Brinkmann, Ulrich, Eriksson, Leif A., Lloyd, Kent, Rauen, Katherine A., Acosta, Maria T., Adam, Margaret, Adams, David R., Alvey, Justin, Amendola, Laura, Andrews, Ashley, Ashley, Euan A., Azamian, Mahshid S., Bacino, Carlos A., Bademci, Guney, Balasubramanyam, Ashok, Baldridge, Dustin, Bale, Jim, Bamshad, Michael, Barbouth, Deborah, Bayrak-Toydemir, Pinar, Beck, Anita, Beggs, Alan H., Behrens, Edward, Bejerano, Gill, Bennet, Jimmy, Berg-Rood, Beverly, Bernstein, Jonathan A., Berry, Gerard T., Bican, Anna, Bivona, Stephanie, Blue, Elizabeth, Bohnsack, John, Bonner, Devon, Botto, Lorenzo, Boyd, Brenna, Briere, Lauren C., Brokamp, Elly, Brown, Gabrielle, Burke, Elizabeth A., Burrage, Lindsay C., Butte, Manish J., Byers, Peter, Byrd, William E., Carey, John, Carrasquillo, Olveen, Cassini, Thomas, Peter Chang, Ta Chen, Chanprasert, Sirisak, Chao, Hsiao-Tuan, Clark, Gary D., Coakley, Terra R., Cobban, Laurel A., Cogan, Joy D., Coggins, Matthew, Cole, F. Sessions, Colley, Heather A., Cooper, Cynthia M., Cope, Heidi, Craigen, William J., Crouse, Andrew B., Cunningham, Michael, D'Souza, Precilla, Dai, Hongzheng, Dasari, Surendra, Davis, Joie, Dayal, Jyoti G., Deardorff, Matthew, Dell'Angelica, Esteban C., Dipple, Katrina, Doherty, Daniel, Dorrani, Naghmeh, Doss, Argenia L., Douine, Emilie D., Duncan, Laura, Earl, Dawn, Eckstein, David J., Emrick, Lisa T., Eng, Christine M., Esteves, Cecilia, Falk, Marni, Fernandez, Liliana, Fieg, Elizabeth L., Fisher, Paul G., Fogel, Brent L., Forghani, Irman, Gahl, William A., Glass, Ian, Gochuico, Bernadette, Godfrey, Rena A., Golden-Grant, Katie, Goldrich, Madison P., Grajewski, Alana, Gutierrez, Irma, Hadley, Don, Hahn, Sihoun, Hamid, Rizwan, Hassey, Kelly, Hayes, Nichole, High, Frances, Hing, Anne, Hisama, Fuki M., Holm, Ingrid A., Hom, Jason, Horike-Pyne, Martha, Huang, Alden, Huang, Yong, Introne, Wendy, Isasi, Rosario, Izumi, Kosuke, Jamal, Fariha, Jarvik, Gail P., Jarvik, Jeffrey, Jayadev, Suman, Jean-Marie, Orpa, Jobanputra, Vaidehi, Karaviti, Lefkothea, Kennedy, Jennifer, Ketkar, Shamika, Kiley, Dana, Kilich, Gonench, Kobren, Shilpa N., Kohane, Isaac S., Kohler, Jennefer N., Krakow, Deborah, Krasnewich, Donna M., Kravets, Elijah, Korrick, Susan, Koziura, Mary, Lalani, Seema R., Lam, Byron, Lam, Christina, LaMoure, Grace L., Lanpher, Brendan C., Lanza, Ian R., LeBlanc, Kimberly, Lee, Brendan H., Levitt, Roy, Lewis, Richard A., Liu, Pengfei, Liu, Xue Zhong, Longo, Nicola, Loo, Sandra K., Loscalzo, Joseph, Maas, Richard L., Macnamara, Ellen F., MacRae, Calum A., Maduro, Valerie V., Mak, Bryan C., Malicdan, May Christine V., Mamounas, Laura A., Manolio, Teri A., Mao, Rong, Maravilla, Kenneth, Marom, Ronit, Marth, Gabor, Martin, Beth A., Martin, Martin G., Martínez-Agosto, Julian A., Marwaha, Shruti, McCauley, Jacob, McConkie-Rosell, Allyn, McCray, Alexa T., McGee, Elisabeth, Mefford, Heather, Merritt, J. Lawrence, Might, Matthew, Mirzaa, Ghayda, Morava, Eva, Moretti, Paolo M., Nakano-Okuno, Mariko, Nelson, Stan F., Newman, John H., Nicholas, Sarah K., Nickerson, Deborah, Nieves-Rodriguez, Shirley, Novacic, Donna, Oglesbee, Devin, Orengo, James P., Pace, Laura, Pak, Stephen, Pallais, J. Carl, Palmer, Christina G.S., Papp, Jeanette C., Parker, Neil H., Phillips, John A., Posey, Jennifer E., Potocki, Lorraine, Pusey, Barbara N., Quinlan, Aaron, Raskind, Wendy, Raja, Archana N., Rao, Deepak A., Raper, Anna, Renteria, Genecee, Reuter, Chloe M., Rives, Lynette, Robertson, Amy K., Rodan, Lance H., Rosenfeld, Jill A., Rosenwasser, Natalie, Rossignol, Francis, Ruzhnikov, Maura, Sacco, Ralph, Sampson, Jacinda B., Saporta, Mario, Scott, C. Ron, Schaechter, Judy, Schedl, Timothy, Schoch, Kelly, Scott, Daryl A., Shashi, Vandana, Shin, Jimann, Silverman, Edwin K., Sinsheimer, Janet S., Sisco, Kathy, Smith, Edward C., Smith, Kevin S., Solem, Emily, Solnica-Krezel, Lilianna, Solomon, Ben, Spillmann, Rebecca C., Stoler, Joan M., Sullivan, Jennifer A., Sullivan, Kathleen, Sun, Angela, Sutton, Shirley, Sweetser, David A., Sybert, Virginia, Tabor, Holly K., Tan, Amelia L.M., Queenie, K.-G., Tan, Tekin, Mustafa, Telischi, Fred, Thorson, Willa, Tifft, Cynthia J., Toro, Camilo, Tran, Alyssa A., Tucker, Brianna M., Urv, Tiina K., Vanderver, Adeline, Velinder, Matt, Viskochil, Dave, Vogel, Tiphanie P., Wahl, Colleen E., Wallace, Stephanie, Walley, Nicole M., Walker, Melissa, Wambach, Jennifer, Wan, Jijun, Wang, Lee-kai, Wangler, Michael F., Ward, Patricia A., Wegner, Daniel, Weisz-Hubshman, Monika, Wener, Mark, Wenger, Tara, Perry, Katherine Wesseling, Westerfield, Monte, Wheeler, Matthew T., Whitlock, Jordan, Wolfe, Lynne A., Worley, Kim, Xiao, Changrui, Yamamoto, Shinya, Yang, John, Zastrow, Diane B., Zhang, Zhe, Zhao, Chunli, Zuchner, Stephan, Bellen, Hugo, and Mahoney, Rachel

Abstract

Diphthamide is a post-translationally modified histidine essential for messenger RNA translation and ribosomal protein synthesis. We present evidence for DPH5as a novel cause of embryonic lethality and profound neurodevelopmental delays (NDDs).

Published
2022
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35. Life threat during assaultive trauma: Critical posttraumatic stress disorder risk factors for injured patients

Author

Timmer-Murillo, Sydney C., Schramm, Andrew, and deRoon-Cassini, Terri A.

Abstract

Individuals with assaultive traumas who experienced life threat represent a high-risk group for PTSD development. This suggests a need to assess this group during hospitalization and provide intervention targeting avoidance and intrusive symptoms in this group.

Published
2022
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36. Applicability of Geographic Information Systems (GIS) in Tracking COVID-19: A Systematic Review

Author

Costa, Gizely Azevedo, Cassini, Sérvio Tulio Alves, and Keller, Regina

Abstract

This article aimed to assess, through a systematic review, the applicability of geographic information systems (GIS) as an alert tool for coronavirus disease 2019 (COVID-19). The methods followed the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) statement. A total of 25 articles published between 2020 and 2024 were included in the review. Portfolio analysis and meta-syntheses were performed to answer specific guiding questions. It was possible to identify the main methods used for mapping COVID-19 cases and assess associations with demographic, socioeconomic, environmental, and urban mobility data, namely spatiotemporal analysis and geostatistical modeling. Spatiotemporal analysis was widely used to understand the spatial dynamics and impact of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), particularly in the first months of the pandemic. GIS has proven to be a valuable tool for collecting, analyzing, and sharing real-time data and assisting health authorities in identifying priority clusters. The main limitation pointed out by the studies was the lack of standardization of COVID-19 case data. It should be noted that spatial models that require training may underestimate correlations between variables as compared with more robust techniques, such as Markov chain and autoregressive geostatistical models. It was possible to conclude that no one method is equally suitable for all analyses and that the choice of an adequate model is crucial to achieve good results.

Published
2024
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37. Loss-of-function in RBBP5results in a syndromic neurodevelopmental disorder associated with microcephaly

Author

Huang, Yue, Jay, Kristy L., Yen-Wen Huang, Alden, Wan, Jijun, Jangam, Sharayu V., Chorin, Odelia, Rothschild, Annick, Barel, Ortal, Mariani, Milena, Iascone, Maria, Xue, Han, Acosta, Maria T., Adams, David R., Raquel, Alvarez, L., Alvey, Justin, Allworth, Aimee, Andrews, Ashley, Ashley, Euan A., Bacino, Carlos A., Bademci, Guney, Balasubramanyam, Ashok, Baldridge, Dustin, Bale, Jim, Bamshad, Michael, Barbouth, Deborah, Bayrak-Toydemir, Pinar, Beck, Anita, Beggs, Alan H., Behrens, Edward, Bejerano, Gill, Bellen, Hugo J., Bennett, Jimmy, Bernstein, Jonathan A., Berry, Gerard T., Bican, Anna, Bivona, Stephanie, Blue, Elizabeth, Bohnsack, John, Bonner, Devon, Botto, Lorenzo, Briere, Lauren C., Brown, Gabrielle, Burke, Elizabeth A., Burrage, Lindsay C., Butte, Manish J., Byers, Peter, Byrd, William E., Carey, John, Carrasquillo, Olveen, Carvhalo Neto, George D., Cassini, Thomas, Peter Chang, Ta Chen, Chanprasert, Sirisak, Chao, Hsiao-Tuan, Chinn, Ivan, Clark, Gary D., Coakley, Terra R., Cobban, Laurel A., Cogan, Joy D., Coggins, Matthew, Cole, F. Sessions, Colley, Heather A., Cope, Heidi, Corona, Rosario, Craigen, William J., Crouse, Andrew B., Cunningham, Michael, D’Souza, Precilla, Dai, Hongzheng, Dasari, Surendra, Davis, Joie, Dayal, Jyoti G., Dell'Angelica, Esteban C., Dipple, Katrina, Doherty, Daniel, Dorrani, Naghmeh, Doss, Argenia L., Douine, Emilie D., Earl, Dawn, Eckstein, David J., Emrick, Lisa T., Eng, Christine M., Falk, Marni, Fieg, Elizabeth L., Fisher, Paul G., Fogel, Brent L., Forghani, Irman, Gahl, William A., Glass, Ian, Gochuico, Bernadette, Goddard, Page C., Godfrey, Rena A., Grajewski, Alana, Hadley, Don, Halley, Meghan C., Hamid, Rizwan, Hassey, Kelly, Hayes, Nichole, High, Frances, Hing, Anne, Hisama, Fuki M., Holm, Ingrid A., Hom, Jason, Horike-Pyne, Martha, Huang, Alden, Hutchison, Sarah, Introne, Wendy, Isasi, Rosario, Izumi, Kosuke, Jarvik, Gail P., Jarvik, Jeffrey, Jayadev, Suman, Jean-Marie, Orpa, Jobanputra, Vaidehi, Kaitryn, Emerald, Ketkar, Shamika, Kiley, Dana, Kilich, Gonench, Kobren, Shilpa N., Kohane, Isaac S., Kohler, Jennefer N., Korrick, Susan, Krakow, Deborah, Krasnewich, Donna M., Kravets, Elijah, Lalani, Seema R., Lam, Byron, Lam, Christina, Lanpher, Brendan C., Lanza, Ian R., LeBlanc, Kimberly, Lee, Brendan H., Levitt, Roy, Lewis, Richard A., Liu, Pengfei, Liu, Xue Zhong, Longo, Nicola, Loo, Sandra K., Loscalzo, Joseph, Maas, Richard L., Macnamara, Ellen F., MacRae, Calum A., Maduro, Valerie V., Maghiro, Audrey Stephannie, Mahoney, Rachel, Malicdan, May Christine V., Mamounas, Laura A., Manolio, Teri A., Mao, Rong, Marom, Ronit, Marth, Gabor, Martin, Beth A., Martin, Martin G., Martínez-Agosto, Julian A., Marwaha, Shruti, McCauley, Jacob, McConkie-Rosell, Allyn, McCray, Alexa T., McGee, Elisabeth, Might, Matthew, Miller, Danny, Mirzaa, Ghayda, Moore, Ryan M., Morava, Eva, Moretti, Paolo, Mulvihill, John J., Nakano-Okuno, Mariko, Nelson, Stanley F., Nieves-Rodriguez, Shirley, Novacic, Donna, Oglesbee, Devin, Orengo, James P., Pace, Laura, Pak, Stephen, Pallais, J. Carl, Palmer, Christina G.S., Papp, Jeanette C., Parker, Neil H., Phillips, John A., Posey, Jennifer E., Potocki, Lorraine, Pusey Swerdzewski, Barbara N., Quinlan, Aaron, Rao, Deepak A., Raper, Anna, Raskind, Wendy, Renteria, Genecee, Reuter, Chloe M., Rives, Lynette, Robertson, Amy K., Rodan, Lance H., Rosenfeld, Jill A., Rosenthal, Elizabeth, Rossignol, Francis, Ruzhnikov, Maura, Sacco, Ralph, Sampson, Jacinda B., Saporta, Mario, Schaechter, Judy, Schedl, Timothy, Schoch, Kelly, Scott, Daryl A., Seto, Elaine, Shashi, Vandana, Shelkowitz, Emily, Sheppeard, Sam, Shin, Jimann, Silverman, Edwin K., Sinsheimer, Janet S., Sisco, Kathy, Smith, Edward C., Smith, Kevin S., Solnica-Krezel, Lilianna, Solomon, Ben, Spillmann, Rebecca C., Stergachis, Andrew, Stoler, Joan M., Sullivan, Kathleen, Sullivan, Jennifer A., Sutton, Shirley, Sweetser, David A., Sybert, Virginia, Tabor, Holly K., Tan, Queenie K.-G., Tan, Amelia L.M., Tarakad, Arjun, Tekin, Mustafa, Telischi, Fred, Thorson, Willa, Tifft, Cynthia J., Toro, Camilo, Tran, Alyssa A., Ungar, Rachel A., Urv, Tiina K., Vanderver, Adeline, Velinder, Matt, Viskochil, Dave, Vogel, Tiphanie P., Wahl, Colleen E., Walker, Melissa, Walley, Nicole M., Wambach, Jennifer, Wan, Jijun, Wang, Lee-kai, Wangler, Michael F., Ward, Patricia A., Wegner, Daniel, Hubshman, Monika Weisz, Wener, Mark, Wenger, Tara, Westerfield, Monte, Wheeler, Matthew T., Whitlock, Jordan, Wolfe, Lynne A., Worley, Kim, Xiao, Changrui, Yamamoto, Shinya, Yang, John, Zhang, Zhe, Zuchner, Stephan, Huang, Jing, Mignot, Cyril, Keren, Boris, Saillour, Virginie, Mah-Som, Annelise Y., Sacharow, Stephanie, Rajabi, Farrah, Costin, Carrie, Yamamoto, Shinya, Kanca, Oguz, Bellen, Hugo J., Rosenfeld, Jill A., Palmer, Christina G.S., Nelson, Stanley F., Wangler, Michael F., and Martinez-Agosto, Julian A.

Abstract

Epigenetic dysregulation has been associated with many inherited disorders. RBBP5(HGNC:9888) encodes a core member of the protein complex that methylates histone 3 lysine-4 and has not been implicated in human disease.

Published
2024
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38. The decline of quantitative EEG goes along with neuropathology in Alzheimer's Disease.

Author

Poloni, Tino Emanuele, Negro, Giulia, Cassini, Paola, Profka, Xhulja, Rossi, Michele, Davin, Annalisa, Ferrari, Riccardo Rocco, Terzoli, Valeria, Guaita, Antonio, Ceroni, Mauro, and Medici, Valentina

Abstract

Background: Few studies investigate the correlation between the quantitative EEG (QEEG) and the neuropathological picture. The purpose of this study is to explore how QEEG can recognize the type and extent of neuropathological changes. Method: The EEG traces and brains belonging to 14 donors of the Abbiategrasso Brain Bank were analyzed. The subjects suffered from neurocognitive disorders due to AD, LBD or AD/vascular lesions (mixed dementia‐MD), with different stages of clinical and neuropathological severity. Clinical and neuropathological characterization was performed according to our protocol; biochemical measurements to determine the amount of proteinopathies are in runtime on frozen samples. QEEG analysis considered the relative power distribution (RPD) of the frequency bands (β, α, θ, δ) and the peak frequency (PF), i.e. the most represented frequency considering all the leads. The PF was measured every 2 seconds for 200‐400 samples, and then averaged. The Kruskall‐Wallis test was used for the comparison between groups. Result: The clinical diagnosis included: 2 MCI, 4 AD, 6 MD, and 2 LBD. The neuropathological definite diagnosis demonstrated frequent co‐pathologies, and some discrepancies compared to the clinical diagnosis. The neuropathological characterization identified 2 cases with low AD pathology (corresponding to the 2 MCI), 8 cases with intermediate or high AD pathology (4 MD with concomitant cerebrovascular disease), and 4 cases with prevalent LBD pathology. Considering both clinical and neuropathological diagnoses, the comparison between groups revealed no significant differences in QEEG parameters. Nonetheless, a trend emerges towards a lower β‐RPD and a higher θ‐RPD in cases with prevalent LBD pathology. Grouping based on the severity of AD pathology (2 low, 4 intermediate, 4 high) demonstrated significant differences depending upon the neuropathological scoring with a progressive decrease of α‐RPD (p = 0.029) and PF (p = 0.019), and an increase of δ‐RPD (p = 0.020). Conclusion: RPD and PF show low discriminatory capacity on etiology. Nonetheless, the presence of LBD seems to boost the EEG slowing. The PF slowing down parallels the increase of AD pathology, representing an indicator for the degenerative load. PF is a simple QEEG parameter, easily obtainable through standard digital EEG; it can be useful for monitoring neurodegenerative burden and disease evolution. [ABSTRACT FROM AUTHOR]

Published
2023
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39. Prediction of posttraumatic stress and depression one-month post-injury: A comparison of two screening instruments.

Author

Ennis, Naomi, Anton, Margaret, Bravoco, Olivia, Ridings, Leigh, Hunt, Josh, deRoon-Cassini, Terri A., Davidson, Tatiana, and Ruggiero, Kenneth

Abstract

Objective: To examine the combined and individual utility of 2 screening tools in prediction of depression and PTSD one-month post traumatic injury. Method: 484 Level I Trauma Center patients were administered the Peritraumatic Distress Inventory (PDI) and Injured Trauma Survivor Screen (ITSS). Approximately 30 days post-injury, patients completed the Posttraumatic Stress Disorder Checklist for DSM-5 (PCL-5) and Patient Health Questionnaire (PHQ-8). Results: Receiver operating characteristic curve (ROC) curves for the PDI suggested a cutoff score of 17.5 predicting PTSD (Sensitivity = 70%; Specificity = 62%) and depression (Sensitivity = 74%; Specificity = 64%). For the ITSS, ROC curves suggested a cutoff score of 1.5 to predict PTSD (Sensitivity = 72%; Specificity = 60%) and depression (Sensitivity = 67%; Specificity = 62%). Inclusion of both instruments in regression analyses accounted for 2.4%-6.8% greater variance than 1 measure alone in predicting PCL-5 and PHQ-8 scores. Conclusions: The ITSS and PDI each demonstrated significant clinical utility in practice. Use of both measures, versus either alone, likely does not produce sufficient added clinical benefit. Follow-up screening and/or ongoing symptom monitoring is recommended as an adjunct to brief bedside screening. [ABSTRACT FROM AUTHOR]

Published
2021
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40. Trajectories of anhedonia symptoms after traumatic injury

Author

Piña, Isela G., Timmer-Murillo, Sydney C., Larson, Christine L., deRoon-Cassini, Terri A., and Tomas, Carissa W.

Abstract

Anhedonia describes the inability or difficulty of experiencing or seeking pleasure. Previous research has demonstrated a relationship between posttraumatic stress disorder (PTSD) or experiencing trauma and anhedonia symptoms; however, little to no work has been done to understand the evolution of anhedonia symptoms after trauma. We aimed to identify anhedonia trajectories following traumatic injury. One hundred ninety-five participants were recruited from the emergency department of a Level-1 Trauma Center after experiencing a traumatic injury. To measure anhedonia symptoms, participants completed the Snaith-Hamilton Pleasure Scale (SHAPS) at 2-weeks, 3-months, and 6-months post-injury. Using latent class mixture modeling, we ran a trajectory analysis with three timepoints of SHAPS scores and compared mental and physical health outcomes across trajectories. Most of the sample fell in the resilient trajectory (85 %), while the remainder were in a remitting trajectory (7 %) where symptoms decreased over time, and a delayed (6 %) trajectory where symptoms did not emerge until 3-months after injury. In the resilient trajectory, there was consistently low levels of PTSD, pain, depression, and anxiety relative to the other trajectories. In the delayed trajectory, depression and PTSD were chronically elevated and pain levels were consistent but mild. In the remitting trajectory, PTSD and depression symptoms decreased over time. Identified anhedonia trajectories mirrored trajectories commonly reported for PTSD symptoms after injury. Evaluating anhedonia trajectories and how they relate to mental health outcomes may inform targeted interventions for traumatic injury patients.

Published
2024
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42. Hippocampal Resting-State Functional Connectivity Forecasts Individual Posttraumatic Stress Disorder Symptoms: A Data-Driven Approach

Author

Fitzgerald, Jacklynn M., Webb, Elisabeth Kate, Weis, Carissa N., Huggins, Ashley A., Bennett, Ken P., Miskovich, Tara A., Krukowski, Jessica L., deRoon-Cassini, Terri A., and Larson, Christine L.

Abstract

Posttraumatic stress disorder (PTSD) is a debilitating disorder, and there is no current accurate prediction of who develops it after trauma. Neurobiologically, individuals with chronic PTSD exhibit aberrant resting-state functional connectivity (rsFC) between the hippocampus and other brain regions (e.g., amygdala, prefrontal cortex, posterior cingulate), and these aberrations correlate with severity of illness. Previous small-scale research (n< 25) has also shown that hippocampal rsFC measured acutely after trauma is predictive of future severity using a region-of-interest–based approach. While this is a promising biomarker, to date, no study has used a data-driven approach to test whole-brain hippocampal FC patterns in forecasting the development of PTSD symptoms.

Published
2022
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44. Microalgae cell wall hydrolysis using snailase and mechanical sand milling.

Author

Sampaio, Igor Carvalho Fontes, Maestrello, Chadia Chahud, de Moura, Isabela Viana Lopes, Estevam, Renata, de Morais, Etiele Greque, Ferrer, Ivet, de Oliveira, Jairo Pinto, and Cassini, Servio Tulio Alves

Abstract

The extraction of intracellular constituents from recalcitrant microalgae strains stands as a significant challenge and a crucial bottleneck in microalgae processing. This study presents a novel enzymatic approach coupling mechanical lysis through sand milling without commercial glass or zirconium beads, with subsequent snailase treatment, resulting in improved cell wall breakdown and increased release of valuable constituents. The selected microalga was Chlorella sp. L06, renowned for its sturdy cell wall structure. Initial experiments involving sand milling unveiled substantial release of proteins (1.19 mg/mL) and chlorophyll (1.80 of absorbance at 680 nm), underscoring effective cell disruption. Remarkably, the application of snailase after sand milling produced noteworthy outcomes, fostering enhanced cell wall degradation and liberating a spectrum of constituents, encompassing soluble reducing sugars (1.13 mg/mL), proteins (2.28 mg/mL), and chlorophyll (2.83 of absorbance at 680 nm). The process was optimized by applying the Box-Behnken design, which revealed distinct operational parameters that significantly improved the release of soluble sugars and proteins by 46 % and 12.7 %, respectively. Moreover, the presence of snailase also showcased a protective antioxidant effect on chlorophyll during the hydrolysis, shedding light on its multifaceted role in the hydrolysis process. This study introduces an advantageous strategy for efficiently valorizing microalgae biomass using the synergistic potential of mechanical lysis and enzymatic treatment. Furthermore, the developed method contributes achieving promising, sustainable microalgae-based biorefineries. [Display omitted] • Beadmilling with sand releases proteins and pigments. • Snailase enhances the extraction of soluble sugars. • Optimization amplifies the release of soluble sugars and proteins. • Snailase enhances the preservation of chlorophyll. [ABSTRACT FROM AUTHOR]

Published
2024
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45. Effects of different thermal and thermochemical pretreatments on the anaerobic digestion of algal biomass cultivated in urban wastewater and collected with and without chemical coagulants.

Author

Estevam, Renata, Franci Gonçalves, Ricardo, Oss, Rodrigo Nunes, Sampaio, Igor Carvalho Fontes, and Cassini, Sérvio Túlio

Abstract

Algal biomass cultivated in wastewater treatment systems is a promising feedstock for biogas production through anaerobic digestion. However, its rigid cell wall inhibits the hydrolysis of intracellular substances and limits its anaerobic digestibility. To improve anaerobic biodegradability, this study investigated the effects of different thermal and thermochemical pretreatments on the performance of anaerobic digestion of the obtained biomass. High-rate algal ponds fed with UASB effluent treating domestic sewage were used to grow algal biomass. Two methods were used for biomass harvesting: a physical method, through filtration, and a physico-chemical method, using coagulants, Tanfloc SL and Aluminum Sulfate (Al 2 (SO 4) 3). Three types of biomasses were obtained, one without coagulant (AB-P), one with Tanfloc (AB-T), and one with Al 2 (SO 4) 3 (AB-AS), which were subjected to different thermal and thermochemical pretreatments. Fourier-transform infrared spectroscopy analysis confirmed the effectiveness of the pretreatment methods, showing modifications in the structures of proteins, carbohydrates, and lipids in the microalgae cells. The alkaline thermochemical pretreatment (90 °C-3 h-pH 11) of AB-AS resulted in higher organic matter solubilization, with a 32 % increase in soluble COD. This pretreatment also resulted in the highest biogas yield, producing 460.64 mL CH 4.gVS−1, with a 229 % increase, and the highest maximum production rate, with Rmax = 78.98 mL CH 4.gVS−1.day−1. Acidic thermochemical pretreatments that resulted in biomass with pH ≤ 4.2 inhibited biogas production. In terms of energy, the best pretreatment was 78 °C-7 h on AB-P, with an EROI of 2.20, which demonstrates a surplus of energy. These findings underscore the potential for optimizing the anaerobic digestibility of algal biomass, thus contributing to more efficient and sustainable biogas production. [Display omitted] • The thermochemical pretreatment of biomass harvested with Al 2 (SO 4)3 was the most efficient. • The maximum biogas yield was achieved with such biomass treated at 90 °C for 3 h at pH 11. • The thermal pretreatment of microalgae without coagulants was the most energy-efficient. • Successful interpretation of the anaerobic digestion using kinetic models was obtained. [ABSTRACT FROM AUTHOR]

Published
2024
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46. Copper-induced exopolysaccharide production by Lelliottia amnigena strain LABEM.

Author

Carvalho Fontes Sampaio, Igor, Viana Lopes de Moura, Isabela, Louro Crugeira, Pedro Jorge, Widmer, Luiz Fernando, Pinto de Oliveira, Jairo, Alves Cassini, Servio Tulio, and Fernando de Almeida, Paulo

Subjects
MICROBIAL exopolysaccharides, FOOD additives, FOURIER transform infrared spectroscopy, HIGH performance liquid chromatography, DRILLING fluids, COPPER
Abstract

Exopolysaccharide (EPS) prodcution is a general mechanism employed by bacteria to thrive under stressful conditions. We report an increase in the production of EPS by Lelliottia amnigena strain LABEM through CuSO 4 exposure along with the use of low-cost carbon sources, namely sucrose (SUC) and crude glycerin (CG). The production of EPS was analyzed in relation to yield, and characterized by Fourier transform infrared spectroscopy (FTIR), scanning electron microscopy (SEM), energy-dispersive X-ray spectroscopy (EDS), and thermogravimetric analysis. L. amnigena grew in up to 1.0 mM CuSO 4 , with a maximum EPS yield of 51.8% at 0.6 mM CuSO 4. The absence of copper detection in the enhanced EPS batches is innovative, indicating a potential reduction in purification steps and heavy metal removal from the produced EPS. This suggests a possible low copper affinity of the produced EPS until the production of 0.8 mM CuSO 4. Microbial supplementation with CuSO 4 also enhanced EPS thermostability and surface roughness, showcasing intriguing properties applicable to drilling fluids and pharmaceutical uses. High-performance liquid chromatography (HPLC) and FTIR showed the polysaccharide nature of the products and the presence of the highly valuable EPS constituent fucose. The results illustrate the relationship between exopolysaccharide and heavy metal exposure, with a focus on enhancing bioprocesses. This expands our understanding and applications beyond heavy metal adsorption and removal. EPS properties and composition suggest diverse applications, such as food additives and in other processes that employ fucose polymer. Future experiments should explore the various applications of this exopolysaccharide and the scale-up of the technology. [Display omitted] • It was valorized sucrose and crude glyceirn into Fucose containing EPS. • Lelliotia amnigena increased the EPS yield in 51.8% in response to CuSO 4 exposure. • The metal exposition reduced cell weight. • The resulted EPS showed differences in elemental and molecular composition. • It was reached a higher thermostability and roughness using CuSO 4. [ABSTRACT FROM AUTHOR]

Published
2024
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48. Determinants of introduction success in alien mammals

Author

Labaronnie, Aurelia and Cassini, Marcelo H.

Abstract

Despite intensive research on colonization by non-native species, ecologists still cannot accurately predict their invasive abilities and likely ecosystem impacts. This study was set out to analyze the determinants of the success of mammal introductions. We applied several types of phylogenetic linear and logistic multiple regression methods. Determinants of success were divided into external (introduction-specific) factors, principally introduction effort (measured as the number of introductions per species), and the proportion of introductions to islands/mainland; and intrinsic (species-specific) factors, including life history (litter size, body mass), ecological (diet breadth, activity breadth, trophic level), biogeographical (latitudinal range), and neuro-behavioral (brain size and sociality) traits. We found that the main determinants of introduction success are introduction-specific factors (i.e., introduction effort and island/mainland proportion) and not those of the species itself. A species’ neuro-cognitive traits are the exception, and these probably play a key role in the ability of founder individuals to recognize and utilize the resources available in novel environments and thus survive the bottleneck imposed by low initial population numbers.

Published
2022
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49. Correction to: Delphi-Based Expert Consensus Statements for the Management of Percutaneous Radiofrequency Neurotomy in the Treatment of Lumbar Facet Joint Syndrome.

Author

Occhigrossi, Felice, Carpenedo, Roberta, Leoni, Matteo Luigi Giuseppe, Varrassi, Giustino, Chinè, Elisabetta, Cascella, Marco, Compain Research Group, Francesco, Amato, Ezio, Amorizzo, Lucia, Angelini, Carlo, Angelini, Marco, Baciarello, Claudio, Baldi, Massimo, Barbieri, Alberto, Bellelli, Laura, Bertini, Cesare, Bonezzi, Pasquale, Buonanno, Giuseppe, Calcarella, and Fabrizio, Cassini

Published
2023
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50. Cortical volume abnormalities in posttraumatic stress disorder: an ENIGMA-psychiatric genomics consortium PTSD workgroup mega-analysis

Author

Wang, Xin, Xie, Hong, Chen, Tian, Cotton, Andrew S., Salminen, Lauren E., Logue, Mark W., Clarke-Rubright, Emily K., Wall, John, Dennis, Emily L., O’Leary, Brian M., Abdallah, Chadi G., Andrew, Elpiniki, Baugh, Lee A., Bomyea, Jessica, Bruce, Steven E., Bryant, Richard, Choi, Kyle, Daniels, Judith K., Davenport, Nicholas D., Davidson, Richard J., DeBellis, Michael, deRoon-Cassini, Terri, Disner, Seth G., Fani, Negar, Fercho, Kelene A., Fitzgerald, Jacklynn, Forster, Gina L., Frijling, Jessie L., Geuze, Elbert, Gomaa, Hassaan, Gordon, Evan M., Grupe, Dan, Harpaz-Rotem, Ilan, Haswell, Courtney C., Herzog, Julia I., Hofmann, David, Hollifield, Michael, Hosseini, Bobak, Hudson, Anna R., Ipser, Jonathan, Jahanshad, Neda, Jovanovic, Tanja, Kaufman, Milissa L., King, Anthony P., Koch, Saskia B. J., Koerte, Inga K., Korgaonkar, Mayuresh S., Krystal, John H., Larson, Christine, Lebois, Lauren A. M., Levy, Ifat, Li, Gen, Magnotta, Vincent A., Manthey, Antje, May, Geoffrey, McLaughlin, Katie A., Mueller, Sven C., Nawijn, Laura, Nelson, Steven M., Neria, Yuval, Nitschke, Jack B., Olff, Miranda, Olson, Elizabeth A., Peverill, Matthew, Phan, K. Luan, Rashid, Faisal M., Ressler, Kerry, Rosso, Isabelle M., Sambrook, Kelly, Schmahl, Christian, Shenton, Martha E., Sierk, Anika, Simons, Jeffrey S., Simons, Raluca M., Sponheim, Scott R., Stein, Murray B., Stein, Dan J., Stevens, Jennifer S., Straube, Thomas, Suarez-Jimenez, Benjamin, Tamburrino, Marijo, Thomopoulos, Sophia I., van der Wee, Nic J. A., van der Werff, Steven J. A., van Erp, Theo G. M., van Rooij, Sanne J. H., van Zuiden, Mirjam, Varkevisser, Tim, Veltman, Dick J., Vermeiren, Robert R. J. M., Walter, Henrik, Wang, Li, Zhu, Ye, Zhu, Xi, Thompson, Paul M., Morey, Rajendra A., and Liberzon, Israel

Abstract

Studies of posttraumatic stress disorder (PTSD) report volume abnormalities in multiple regions of the cerebral cortex. However, findings for many regions, particularly regions outside commonly studied emotion-related prefrontal, insular, and limbic regions, are inconsistent and tentative. Also, few studies address the possibility that PTSD abnormalities may be confounded by comorbid depression. A mega-analysis investigating all cortical regions in a large sample of PTSD and control subjects can potentially provide new insight into these issues. Given this perspective, our group aggregated regional volumes data of 68 cortical regions across both hemispheres from 1379 PTSD patients to 2192 controls without PTSD after data were processed by 32 international laboratories using ENIGMA standardized procedures. We examined whether regional cortical volumes were different in PTSD vs. controls, were associated with posttraumatic stress symptom (PTSS) severity, or were affected by comorbid depression. Volumes of left and right lateral orbitofrontal gyri (LOFG), left superior temporal gyrus, and right insular, lingual and superior parietal gyri were significantly smaller, on average, in PTSD patients than controls (standardized coefficients = −0.111 to −0.068, FDR corrected Pvalues < 0.039) and were significantly negatively correlated with PTSS severity. After adjusting for depression symptoms, the PTSD findings in left and right LOFG remained significant. These findings indicate that cortical volumes in PTSD patients are smaller in prefrontal regulatory regions, as well as in broader emotion and sensory processing cortical regions.

Published
2021
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