134 results on '"Jennifer L. Murphy"'
Search Results
2. Bi-allelic ATG4D variants are associated with a neurodevelopmental disorder characterized by speech and motor impairment
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Marie Morimoto, Vikas Bhambhani, Nour Gazzaz, Mariska Davids, Paalini Sathiyaseelan, Ellen F. Macnamara, Jennifer Lange, Anna Lehman, Patricia M. Zerfas, Jennifer L. Murphy, Maria T. Acosta, Camille Wang, Emily Alderman, Undiagnosed Diseases Network, Sara Reichert, Audrey Thurm, David R. Adams, Wendy J. Introne, Sharon M. Gorski, Cornelius F. Boerkoel, William A. Gahl, Cynthia J. Tifft, and May Christine V. Malicdan
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Medicine ,Genetics ,QH426-470 - Abstract
Abstract Autophagy regulates the degradation of damaged organelles and protein aggregates, and is critical for neuronal development, homeostasis, and maintenance, yet few neurodevelopmental disorders have been associated with pathogenic variants in genes encoding autophagy-related proteins. We report three individuals from two unrelated families with a neurodevelopmental disorder characterized by speech and motor impairment, and similar facial characteristics. Rare, conserved, bi-allelic variants were identified in ATG4D, encoding one of four ATG4 cysteine proteases important for autophagosome biogenesis, a hallmark of autophagy. Autophagosome biogenesis and induction of autophagy were intact in cells from affected individuals. However, studies evaluating the predominant substrate of ATG4D, GABARAPL1, demonstrated that three of the four ATG4D patient variants functionally impair ATG4D activity. GABARAPL1 is cleaved or “primed” by ATG4D and an in vitro GABARAPL1 priming assay revealed decreased priming activity for three of the four ATG4D variants. Furthermore, a rescue experiment performed in an ATG4 tetra knockout cell line, in which all four ATG4 isoforms were knocked out by gene editing, showed decreased GABARAPL1 priming activity for the two ATG4D missense variants located in the cysteine protease domain required for priming, suggesting that these variants impair the function of ATG4D. The clinical, bioinformatic, and functional data suggest that bi-allelic loss-of-function variants in ATG4D contribute to the pathogenesis of this syndromic neurodevelopmental disorder.
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- 2023
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3. Childhood Adversity Moderates Change in Latent Patterns of Psychological Adjustment during the COVID-19 Pandemic: Results of a Survey of U.S. Adults
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Kelly E. O’Connor, Camie A. Tomlinson, Shelby E. McDonald, Samantha Brown, Jennifer W. Applebaum, Jennifer L. Murphy, Angela Matijczak, Barbara A. Zsembik, and Stephen W. Porges
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COVID-19 ,latent transition analysis ,mental health ,family violence ,community violence ,Social Sciences - Abstract
Emerging evidence suggests that the consequences of childhood adversity impact later psychopathology by increasing individuals’ risk of experiencing difficulties in adjusting to stressful situations later in life. The goals of this study were to: (a) identify sociodemographic factors associated with subgroups of psychological adjustment prior to and after the onset of the COVID-19 pandemic and (b) examine whether and to what extent types of childhood adversity predict transition probabilities. Participants were recruited via multiple social media platforms and listservs. Data were collected via an internet-based survey. Our analyses reflect 1942 adults (M = 39.68 years); 39.8% reported experiencing at least one form of childhood adversity. Latent profile analyses (LPAs) and latent transition analyses (LTAs) were conducted to determine patterns of psychological adjustment and the effects of childhood adversity on transition probabilities over time. We identified five subgroups of psychological adjustment characterized by symptom severity level. Participants who were younger in age and those who endorsed marginalized identities exhibited poorer psychological adjustment during the pandemic. Childhood exposure to family and community violence and having basic needs met as a child (e.g., food, shelter) significantly moderated the relation between latent profile membership over time. Clinical and research implications are discussed.
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- 2023
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4. A virtual reality intervention for fear of movement for Veterans with chronic pain: protocol for a feasibility study
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Christopher A. Fowler, Lisa M. Ballistrea, Kerry E. Mazzone, Aaron M. Martin, Howard Kaplan, Kevin E. Kip, Jennifer L. Murphy, and Sandra L. Winkler
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Chronic pain ,Virtual reality ,Veterans ,Rehabilitation ,Fear of movement ,Kinesiophobia ,Medicine (General) ,R5-920 - Abstract
Abstract Background A key concern for people with chronic pain is experiencing increased pain and/or re-injury. Consequently, individuals with chronic pain can develop a maladaptive fear of movement that leads to adverse functional consequences. A primary goal of chronic pain rehabilitation is re-engagement in feared movements through exposure. This is often challenging since safe movement can be uncomfortable. Virtual environments provide a promising opportunity to safely and gradually expose Veterans to movements that are avoided in the real world. The current study will utilize multiple virtual reality (VR) applications (APPs) of varying the intensity levels ranging from passive distraction from pain to active exposure to feared movement. The primary aims of this pilot are to examine VR as an adjunctive nonpharmacological intervention to assist with the adoption and implementation of skills to decrease fear of movement and increase overall functioning among Veterans with chronic pain. Second, to build a hierarchy of VR APPs to assist in gradual exposure to feared movements. Methods This study will be conducted in the Chronic Pain Rehabilitation Program (CPRP) at the James A. Haley Veterans Hospital, a unique inpatient program within the VA system. Participants will include up to 20 Veterans who receive a VR intervention as part of their physical therapy. A rating form containing qualitative and quantitative experiences will be administered following each VR session to assess feasibility and to provide descriptive information for the proposed hierarchy. Effect sizes will be calculated from intake and discharge measures for the primary outcome fear of movement and secondary pain and functional outcomes. Discussion This study will inform the feasibility of a randomized controlled trial examining the clinical utility of using VR to reduce fear of movement and increase function among Veterans with chronic pain. VR has the advantage of being easily implemented both within VA healthcare settings as well as in Veterans’ own residences, where engagement in ongoing self-management approaches is often most challenging. Presumably, VR that is matched to patient needs, progresses in intensity, immerses Veterans in the applications, and is perceived positively by Veterans, will result in positive functional outcomes.
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- 2019
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5. The Link between Family Violence and Animal Cruelty: A Scoping Review
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Camie A. Tomlinson, Jennifer L. Murphy, Angela Matijczak, Allegra Califano, Jiaxin Santos, and Shelby E. McDonald
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animal cruelty ,family violence ,domestic violence ,intimate partner violence ,child maltreatment ,child abuse ,Social Sciences - Abstract
There is some evidence that family violence (intimate partner violence, child maltreatment, elder abuse) co-occurs with animal cruelty (i.e., threats to and/or actual harm of an animal), which is often referred to as “the link.” The aim of this scoping review was to comprehensively search the literature to determine the extent of empirical evidence that supports the co-occurrence of family violence and animal cruelty and that provides prevalence rates of the co-occurrence. We searched eight electronic databases (e.g., Academic Search Complete, PsycArticles, PubMed) for peer-reviewed articles published until September 2021. Articles were eligible for inclusion if they were written in English and included the empirical study of at least one form of family violence and animal cruelty. We identified 61 articles for inclusion. The majority of articles (n = 48) focused on co-occurring IPV and animal cruelty, and 20 articles examined child maltreatment and animal cruelty. No articles examining elder abuse and animal cruelty were found. Prevalence rates of “the link” ranged from 80%. Findings regarding the association between family violence and animal cruelty varied. Some studies found that family violence was significantly associated with animal cruelty (or vice versa), but there was also evidence that the association was not statistically significant. Associations between family violence and animal cruelty were not significant in most studies that adjusted for sociodemographic factors. This suggests that sociodemographic factors (e.g., exposure to multiple forms of violence, and income) may explain the co-occurrence of family violence and animal cruelty. Based on the results of our scoping review, we recommend that caution should be taken regarding assertions of “the link” without further research to better understand the co-occurrence of family violence and animal cruelty and the factors and mechanisms that influence their co-occurrence.
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- 2022
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6. An assessment of household water quality among Peace Corps volunteers in Guatemala
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Daniel E. Murphy, Scott A. Poe, Jennifer L. Murphy, Rennie W. Ferguson, Susan J. Henderson, and Paul Jung
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Peace Corps Volunteers ,Traveler ,Gastrointestinal illness ,Drinking water ,Guatemala ,Arctic medicine. Tropical medicine ,RC955-962 - Abstract
Abstract Background Gastrointestinal (GI) illness is the most commonly reported health concern among Peace Corps Volunteers (PCVs) serving in Guatemala. This project identified water types and treatment and storage practices used by PCVs and measured select water quality parameters in their household water. Methods A survey about water types and practices was conducted of PCVs in Guatemala. The water type most frequently consumed in the household (“primary drinking water”) and other water types present in the household (“secondary water”) were tested for free chlorine residual (FCR) and for the presence of Escherichia coli and total coliforms. A negative binomial regression model was used to analyze data on incidence of self-reported GI illness. Results Tambo (commercially purified water in a 5-gal bottle) was the water type most frequently (64%) reported as primary drinking water in 39 PCV households. Most (74%) PCVs reported drinking water other than primary drinking water ≥1 day per week; the incidence rate of GI illness per PCV per month was significantly lower among PCVs who reported never consuming water other than primary drinking water compared to those who did (0.4 and 1.6 GI illnesses per PCV per month, respectively) (p
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- 2019
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7. Attachment to Pets Moderates Transitions in Latent Patterns of Mental Health Following the Onset of the COVID-19 Pandemic: Results of a Survey of U.S. Adults
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Shelby E. McDonald, Kelly E. O’Connor, Angela Matijczak, Camie A. Tomlinson, Jennifer W. Applebaum, Jennifer L. Murphy, and Barbara A. Zsembik
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pets ,dogs ,cats ,mental health ,COVID-19 ,latent transition analysis ,Veterinary medicine ,SF600-1100 ,Zoology ,QL1-991 - Abstract
This cross-sectional study examined whether, and to what extent, attachment to pets was associated with changes in latent patterns of adults’ perceived mental health symptoms during the COVID-19 pandemic (n = 1942). We used latent transition analysis to determine the stability of subgroup membership pre- and post-COVID and the effect of attachment to pets on transition probabilities. Mental health before COVID-19 was measured retrospectively. Five subgroups were identified: low symptoms, mild symptoms, moderate symptoms, high symptoms, and severe symptoms. Among individuals in the moderate and high symptoms subgroups, those who reported high attachment to pets generally had greater odds of transitioning to a less severe symptom profile (OR = 2.12) over time than those with low attachment to pets (OR = 1.39). However, those who had a severe symptom profile and high attachment to pets had lower odds of transitioning to a less severe symptom profile (OR = 0.30) and higher odds of maintaining a severe symptom profile (OR = 3.33) than those with low attachment to pets. These findings suggest that the protective and risk effects of attachment to pets differ based on individuals’ psychological symptom patterns across multiple indicators. We discuss the implications of these findings for research, policy, and practice.
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- 2021
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8. The Moderating Effect of Comfort from Companion Animals and Social Support on the Relationship between Microaggressions and Mental Health in LGBTQ+ Emerging Adults
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Angela Matijczak, Shelby E. McDonald, Camie A. Tomlinson, Jennifer L. Murphy, and Kelly O’Connor
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LGBTQ ,microaggressions ,mental health ,companion animals ,social support ,minority stress ,Psychology ,BF1-990 - Abstract
LGBTQ+ (lesbian, gay, bisexual, transgender, queer, and other sexual/gender minority identities) individuals frequently report exposure to microaggressions, which are associated with deleterious mental health outcomes. Social support from humans has been found to be an important protective factor for LGBTQ+ emerging adults. However, an underexplored area of research is the protective role of interactions with companion animals for this population. We conducted simple and multiple moderation analyses to explore whether and to what extent emotional comfort from companion animals and human social support moderated the relationship between LGBTQ-related microaggressions and depressive and anxiety symptoms. Our sample included 134 LGBTQ+ emerging adults (mean age of 19.31). We found that social support moderated the relationship between microaggressions and depressive symptoms. The relationship between microaggressions and depressive symptoms was not significant at high levels of social support, indicating the protective nature of human social support. Comfort from companion animals also moderated the relationship between interpersonal microaggressions and depressive symptoms. For participants with high or medium levels of emotional comfort from companion animals, interpersonal microaggressions were positively associated with depressive symptoms. Our results highlight the need to further investigate the complex role of relationships with companion animals on mental health outcomes for LGBTQ+ emerging adults.
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- 2020
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9. HANDS-ON OCEANOGRAPHY | Ocean Acidification: The Role of CO2
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Jennifer L. Murphy and Christopher I. Measures
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ocean acidification ,laboratory activity ,ocean pH ,Oceanography ,GC1-1581 - Abstract
Purpose of Activity » Understand how the pH of water changes with the addition of CO2 » Understand why increasing the amount of CO2 in the atmosphere is decreasing the pH of the ocean » Learn how different human activities affect the concentration of CO2 in the atmosphere » Understand how temperature affects the solubility of CO2 in aqueous solutions
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- 2014
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10. School Psychologists' Experience of Identifying Students with Specific Learning Disabilities in Urban Schools
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Jennifer L. Murphy
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The largest group of students receiving special education services in the United States qualify under the category of Specific Learning Disability (SLD) (Cottrell & Barrett, 2015). The most recent reauthorization of the Individuals with Disabilities Education Improvement Act of 2004 (IDEA 2004) was the first time that federal special education law substantially changed the way in which Multidisciplinary Teams (MDTs) could identify students with SLDs. Because of their specialized training, school psychologists are considered to be the disability identification expert of the team (NASP, 2010). This instrumental case study investigated school psychologists' experience of identifying SLDs in urban schools and how they make sense of the process. This study was conducted with school psychologists who have at least five years of experience and currently work in an urban school in Cuyahoga County. Seven school psychologists from six districts consented to participate in this study. Participants completed a brief demographic questionnaire and two semi-structured interviews, answering interview questions to address the following primary research questions: (1) What resources and existing knowledge do school psychologists draw on in the processes of SLD identification; and (2) What challenges occur for them in the SLD identification process. Participants identified themes regarding resources and existing knowledge that they use during the identification process as well as challenges related to their training, professional development, team dynamics, school and community resources, the legal definition of SLD, inconsistent application of policy, and SLD guidance and policy during this study. These findings highlighted the need for changes to university-level educator training programs, professional development, and community outreach and inclusion, as well as the need to recommit to students' right to a Free Appropriate Public Education. [The dissertation citations contained here are published with the permission of ProQuest LLC. Further reproduction is prohibited without permission. Copies of dissertations may be obtained by Telephone (800) 1-800-521-0600. Web page: http://www.proquest.com/en-US/products/dissertations/individuals.shtml.]
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- 2020
11. Bi-allelic SNAPC4 variants dysregulate global alternative splicing and lead to neuroregression and progressive spastic paraparesis
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F. Graeme Frost, Marie Morimoto, Prashant Sharma, Lyse Ruaud, Newell Belnap, Daniel G. Calame, Yuri Uchiyama, Naomichi Matsumoto, Machteld M. Oud, Elise A. Ferreira, Vinodh Narayanan, Sampath Rangasamy, Matt Huentelman, Lisa T. Emrick, Ikuko Sato-Shirai, Satoko Kumada, Nicole I. Wolf, Peter J. Steinbach, Yan Huang, Barbara N. Pusey, Sandrine Passemard, Jonathan Levy, Séverine Drunat, Marie Vincent, Agnès Guet, Emanuele Agolini, Antonio Novelli, Maria Cristina Digilio, Jill A. Rosenfeld, Jennifer L. Murphy, James R. Lupski, Gilbert Vezina, Ellen F. Macnamara, David R. Adams, Maria T. Acosta, Cynthia J. Tifft, William A. Gahl, and May Christine V. Malicdan
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All institutes and research themes of the Radboud University Medical Center ,Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7] ,Genetics ,Genetics (clinical) - Abstract
Item does not contain fulltext The vast majority of human genes encode multiple isoforms through alternative splicing, and the temporal and spatial regulation of those isoforms is critical for organismal development and function. The spliceosome, which regulates and executes splicing reactions, is primarily composed of small nuclear ribonucleoproteins (snRNPs) that consist of small nuclear RNAs (snRNAs) and protein subunits. snRNA gene transcription is initiated by the snRNA-activating protein complex (SNAPc). Here, we report ten individuals, from eight families, with bi-allelic, deleterious SNAPC4 variants. SNAPC4 encoded one of the five SNAPc subunits that is critical for DNA binding. Most affected individuals presented with delayed motor development and developmental regression after the first year of life, followed by progressive spasticity that led to gait alterations, paraparesis, and oromotor dysfunction. Most individuals had cerebral, cerebellar, or basal ganglia volume loss by brain MRI. In the available cells from affected individuals, SNAPC4 abundance was decreased compared to unaffected controls, suggesting that the bi-allelic variants affect SNAPC4 accumulation. The depletion of SNAPC4 levels in HeLa cell lines via genomic editing led to decreased snRNA expression and global dysregulation of alternative splicing. Analysis of available fibroblasts from affected individuals showed decreased snRNA expression and global dysregulation of alternative splicing compared to unaffected cells. Altogether, these data suggest that these bi-allelic SNAPC4 variants result in loss of function and underlie the neuroregression and progressive spasticity in these affected individuals.
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- 2023
12. <scp>Pre‐implementation</scp> formative evaluation of <scp>cooperative</scp> pain education and <scp>self‐management</scp> expanding treatment for <scp>real‐world</scp> access: A pragmatic pain trial
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Kristin M. Mattocks, Kathryn M. LaChappelle, Sarah L. Krein, Lynn L. DeBar, Steve Martino, Sara Edmond, Brett Ankawi, R. Ross MacLean, Diana M. Higgins, Jennifer L. Murphy, Emily Cooper, and Alicia A. Heapy
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Anesthesiology and Pain Medicine - Published
- 2022
13. Relationships Between Emotional Comfort From Companion Animals and Victimization and Psychological Well-Being Among Sexual and Gender Minority Emerging Adults
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Shelby E. McDonald, Camie A. Tomlinson, Traci L. Wike, Kelly E. O’Connor, Jennifer W. Applebaum, Angela Matijczak, Shanna K. Kattari, and Jennifer L. Murphy
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Social support ,Sociology and Political Science ,Psychology ,Mental health ,Social Sciences (miscellaneous) ,Clinical psychology - Published
- 2022
14. Transgender and gender expansive emerging adults: the moderating role of thwarted belongingness on mental health
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Keith J. Watts, Angela Matijczak, Camie A. Tomlinson, M. Alex Wagaman, Jennifer L. Murphy, Kelly O’Connor, and Shelby E. McDonald
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Gender Studies ,Health (social science) ,Social Psychology ,Applied Psychology - Published
- 2022
15. A Decade of Trauma-Informed Care: An Organizational Case Study
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Aaron Muttillo, Jennifer L. Murphy, and Anne Galletta
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Psychiatry and Mental health ,Clinical Psychology ,Health Professions (miscellaneous) - Published
- 2022
16. Cognitive behavioral therapy for chronic pain in veterans: Evidence for clinical effectiveness in a model program
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Matthew J. Cordova, Jennifer L Murphy, and Eric A. Dedert
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medicine.medical_specialty ,medicine.medical_treatment ,Specialty ,PsycINFO ,Article ,03 medical and health sciences ,0302 clinical medicine ,Quality of life (healthcare) ,Humans ,Medicine ,Veterans Affairs ,Applied Psychology ,Depression (differential diagnoses) ,Veterans ,Cognitive Behavioral Therapy ,business.industry ,Chronic pain ,medicine.disease ,030227 psychiatry ,Cognitive behavioral therapy ,Clinical Psychology ,Treatment Outcome ,Quality of Life ,Physical therapy ,Pain catastrophizing ,Chronic Pain ,business - Abstract
The U.S. Department of Veterans Affairs (VA) has been training clinicians in its cognitive behavioral therapy for chronic pain (CBT-CP) structured protocol since 2012. The aim of this project was to review patient outcomes to determine the effectiveness of the VA's CBT-CP treatment. From 2012-2018, 1,331 Veterans initiated individual CBT-CP treatment as part of the training program. Patient outcomes were assessed with measures of patient-reported pain intensity, pain catastrophizing, depression, pain interference, and quality of life (physical, psychological, social, and environmental). Mixed models of the effects of time indicated significant changes across pretreatment, midtreatment, and treatment conclusion on all outcomes. There was a large effect size (Cohen's d = 0.78) for pain catastrophizing, and there were medium to large effect sizes (d > 0.60) for worst pain intensity, pain interference, depression, and physical quality of life. Systematic training of therapists and implementation of the VA's CBT-CP protocol yielded significant patient improvements across multiple domains. This offers strong support for the VA's CBT-CP as an effective, safe treatment for Veterans with chronic pain and highlights it as a model to increase the availability of training in standardized, pain-focused, evidence-based, behavioral interventions. The findings suggest that the broad dissemination of such training, including in routine, nonpain specialty settings, would improve patient access to effective, nonpharmacological treatment options in both the public and private sectors. (PsycInfo Database Record (c) 2020 APA, all rights reserved).
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- 2022
17. Positive Engagement with Pets Buffers the Impact of Intimate Partner Violence on Callous-Unemotional Traits in Children
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Jennifer W. Applebaum, Kelly E. O’Connor, Shelby E. McDonald, Frank R. Ascione, Angela Matijczak, Jennifer L. Murphy, James Herbert Williams, Camie A. Tomlinson, and Elizabeth E. Van Voorhees
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Conduct Disorder ,Exposure to Violence ,Callous unemotional ,Traumatic stress ,Intimate Partner Violence ,Odds ,Clinical Psychology ,Cross-Sectional Studies ,mental disorders ,Animals ,Humans ,Domestic violence ,Psychology ,Copper ,Applied Psychology ,Clinical psychology - Abstract
Childhood exposure to intimate partner violence (IPV) is associated with serious psychological outcomes including increased odds of developing callous-unemotional (CU) traits and behaviors. Recent studies suggest that concomitant exposure to animal cruelty (AC) may increase this risk. However, even under these circumstances, bonds with companion animals may still be a protective factor that buffers the deleterious impact of IPV on child adjustment. This cross-sectional study evaluates whether, and to what extent, the association between exposure to IPV and children’s CU and empathic-prosocial (EP) traits vary as a function of children’s positive engagement with pets and exposure to AC. Participants included 204 children (aged 7–12 years; 57% Latinx) and their maternal caregiver who were recruited from domestic violence agencies in a western US state. We conducted multiple moderation analyses to evaluate each outcome individually (i.e., CU traits, EP traits), adjusting for the effects of child age, gender, and Hispanic ethnicity. Positive engagement with pets significantly moderated the relationship between IPV and CU traits, ∇R = 0.03, F (1, 195) = 7.43, β = –0.17, t(195) = –2.73, p = .007. Specifically, when high levels of positive engagement with pets is present, IPV is negatively associated with CU traits, whereas the reverse was true at low levels of positive engagement with pets. Evidence of moderation by AC was not supported. Our findings suggest that children who form close relationships with their pets in the context of IPV appear to derive important support from these animals; safeguarding the well-being of these animals may be critical to their long-term emotional health.
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- 2021
18. 'He was like, my ride or die': Sexual and Gender Minority Emerging Adults’ Perspectives on Living With Pets During the Transition to Adulthood
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Ryan O’Ryan, Jennifer L. Murphy, Shelby E. McDonald, Shanna K. Kattari, Laura J. Booth, Angela Matijczak, Grace Natoli, Jennifer W. Applebaum, Nicole Nicotera, Liza Kremer, and Camie A. Tomlinson
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Coping (psychology) ,Transition (fiction) ,Developmental and Educational Psychology ,Experimental and Cognitive Psychology ,Life-span and Life-course Studies ,Psychology ,Minority stress ,Qualitative research ,Developmental psychology - Abstract
This qualitative study explores the benefits and risks associated with living with companion animals during the transition to adulthood among 117 sexual and gender minority (SGM) emerging adults living in the U.S. Interviews were transcribed and analyzed using template analysis. Thematic analysis identified several risks (caregiver burden, pets as barriers to relationships, animal-related psychological stress) and benefits (pets as a buffer to stress, pets as social capital, pets as a coping mechanism for mental health, and pets as identity and purpose) associated with living with pets. Our results suggest that pets may influence SGM emerging adult identity development and related wellbeing by facilitating feelings of belongingness, positive self-regard, and purpose; promoting social interactions; and providing emotional support and comfort to cope with stress. However, pets, and their associated care, were also a source of caregiving burden and psychological stress. We discuss practice and policy implications and directions for future research.
- Published
- 2021
19. Sequential and comparative evaluation of pain treatment effectiveness response (SCEPTER), a pragmatic trial for conservative chronic low back pain treatment
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J. David Clark, Matthew J. Bair, Ilana Belitskaya-Lévy, Colleen Fitzsimmons, Lisa M. Zehm, Paul E. Dougherty, Karleen F. Giannitrapani, Erik J. Groessl, Diana M. Higgins, Jennifer L. Murphy, Daniel L. Riddle, Grant D. Huang, and Mei-Chiung Shih
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Pharmacology (medical) ,General Medicine - Abstract
Chronic low back pain (cLBP) is a common and highly disabling problem world-wide. Although many treatment options exist, it is unclear how to best sequence the multitude of care options to provide the greatest benefit to patients.The Sequential and Comparative Evaluation of Pain Treatment Effectiveness Response (SCEPTER) trial uses a pragmatic, randomized, stepped design. Enrollment targets 2529 participants from 20 Veterans Affairs (VA) medical centers. Participants with chronic low back pain will first be randomized to one of three options: 1) an internet-based self-management program (Pain EASE); 2) a tailored physical therapy program (Enhanced PT); or 3) continued care with active monitoring (CCAM), a form of usual care. Participants not achieving a 30% or 2-point reduction on the study's primary outcome (Brief Pain Inventory Pain Interference (BPI-PI) subscale), 3 months after beginning treatment may undergo re-randomization in a second step to cognitive behavioral therapy for chronic pain, spinal manipulation therapy, or yoga. Secondary outcomes include pain intensity, back pain-related disability, depression, and others. Participants will be assessed every three months until 12 months after initiating their final trial therapy. Companion economic and implementation analyses are also planned.The SCEPTER trial is currently recruiting and enrolling participants.Trial results will inform treatment decisions for the stepped management of chronic low back pain - a common and disabling condition. Additional analyses will help tailor treatment selection to individual patient characteristics, promote efficient resource use, and identify implementation barriers of interventions.clinicaltrials.gov Identifier: NCT04142177.
- Published
- 2022
20. Relations Between Sexual and Gender Minority Stress, Personal Hardiness, and Psychological Stress in Emerging Adulthood: Examining Indirect Effects via Human-animal Interaction
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Jennifer W. Applebaum, Shanna K. Kattari, Shelby E. McDonald, Angela Matijczak, Traci L. Wike, Camie A. Tomlinson, and Jennifer L. Murphy
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Coping (psychology) ,Human animal ,Sociology and Political Science ,media_common.quotation_subject ,General Social Sciences ,medicine.disease_cause ,Minority stress ,Developmental psychology ,Hardiness (psychological) ,medicine ,Psychological stress ,Psychological resilience ,Psychology ,Social Sciences (miscellaneous) ,media_common - Abstract
This study examines the role of human-animal interaction (HAI) in relations between sexual and gender minority (SGM) stress, personal hardiness, and psychological stress during emerging adulthood. Data for the current sample reflect 136 SGM emerging adults between the ages of 18 to 21 years who reported living with a companion animal in the past year (37.5% racial/ethnic minority, 49.2% transgender or gender -expansive, 98.5% sexual minority). Mediation was tested using structural equation modeling with a bootstrapping approach. We found evidence of an indirect effect of microaggressions on personal hardiness. Specifically, increases in microaggressions were associated with increases in HAI; in turn, increases in HAI were associated with higher levels of personal hardiness. No other statistically significant indirect effects were identified in our model. We discuss the implications of these findings for enhancing community capacity to empower and facilitate successful coping among SGM emerging adults.
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- 2021
21. The Resurrection of Interdisciplinary Pain Rehabilitation: Outcomes Across a Veterans Affairs Collaborative
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Sarah A Palyo, Jennifer L. Murphy, Cynthia P Van Keuren, Irina A. Strigo, Lauren N Hollrah, Zachary S Schmidt, and Evangelia Banou
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medicine.medical_specialty ,medicine.medical_treatment ,Rehabilitation & Regenerative Medicine Section ,03 medical and health sciences ,0302 clinical medicine ,Quality of life (healthcare) ,Health care ,medicine ,Humans ,Pain Management ,030212 general & internal medicine ,Veterans Affairs ,Veterans ,Accreditation ,Rehabilitation ,business.industry ,Chronic pain ,General Medicine ,medicine.disease ,United States ,United States Department of Veterans Affairs ,Anesthesiology and Pain Medicine ,Quality of Life ,Physical therapy ,Pain catastrophizing ,Observational study ,Neurology (clinical) ,Chronic Pain ,business ,030217 neurology & neurosurgery - Abstract
Objective Despite empirical support for interdisciplinary pain rehabilitation programs improving functioning and quality of life, access to this treatment approach has decreased dramatically over the last 20 years within the United States but has grown significantly in the Department of Veterans Affairs (VA). Between 2009 and 2019, VA pain rehabilitation programs accredited by the Commission on Accreditation of Rehabilitation Facilities increased 10-fold in the VA, expanding from two to 20. The aim of this collaborative observational evaluation was to examine patient outcomes across a subset of six programs at five sites. Methods Outcomes were assessed using agreed-upon measures of patient-reported pain intensity, pain interference across various domains, pain catastrophizing, and sleep. Results A total of 931 patients enrolled in the selected VA interdisciplinary pain programs, with 84.1% of participants completing the full course of treatment. Overall, all programs showed significant improvements from pretreatment to posttreatment in nearly all patient-reported outcomes. The effect sizes ranged from medium to large. Notably, the results demonstrate that positive outcomes were typical despite differences in structure and resources across programs. Conclusions The adverse impacts of opioid use have highlighted the importance of chronic pain treatment approaches that emphasize team-based care focused on functional improvements. This study represents the first and largest analysis of outcomes across chronic pain rehabilitation programs and demonstrates the need for increased access to similar comprehensive approaches to pain management across the health care system. Further, it suggests that a variety of structures may be effective, encouraging flexibility in adopting this interdisciplinary approach.
- Published
- 2021
22. Ensuring Patient Protections When Tapering Opioids: Consensus Panel Recommendations
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W. Michael Hooten, Charles Argoff, Mark Sullivan, Penney Cowan, Halena M. Gazelka, Stefan G. Kertesz, Steven P. Stanos, Ajay Manhapra, Edward C. Covington, Jennifer L. Murphy, and Jane C. Ballantyne
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Biopsychosocial model ,medicine.medical_specialty ,education.field_of_study ,Unintended consequences ,business.industry ,Population ,Opioid use disorder ,General Medicine ,Opioid-Related Disorders ,medicine.disease ,Discontinuation ,Analgesics, Opioid ,Opioid ,Risk Factors ,Practice Guidelines as Topic ,Health care ,medicine ,Humans ,Intensive care medicine ,education ,business ,Adverse effect ,medicine.drug - Abstract
Long-term opioid therapy has the potential for serious adverse outcomes and is often used in a vulnerable population. Because adverse effects or failure to maintain benefits is common with long-term use, opioid taper or discontinuation may be indicated in certain patients. Concerns about the adverse individual and population effects of opioids have led to numerous strategies aimed at reductions in prescribing. Although opioid reduction efforts have had generally beneficial effects, there have been unintended consequences. Abrupt reduction or discontinuation has been associated with harms that include serious withdrawal symptoms, psychological distress, self-medicating with illicit substances, uncontrolled pain, and suicide. Key questions remain about when and how to safely reduce or discontinue opioids in different patient populations. Thus, health care professionals who reduce or discontinue long-term opioid therapy require a clear understanding of the associated benefits and risks as well as guidance on the best practices for safe and effective opioid reduction. An interdisciplinary panel of pain clinicians and one patient advocate formulated recommendations on tapering methods and ongoing pain management in primary care with emphasis on patient-centered, integrated, comprehensive treatment models employing a biopsychosocial perspective.
- Published
- 2020
23. A National Survey of Patient Completion of Cognitive Behavioral Therapy for Chronic Pain: The Role of Therapist Characteristics, Attempt Rates, and Modification
- Author
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Marina Kukla, Mindy E. Flanagan, Alan B. McGuire, Marianne S. Matthias, Matthew J. Bair, Jennifer L. Murphy, Jessica Carter, and Nancy Henry
- Subjects
Cognitive behavioral therapy ,Psychotherapist ,medicine.medical_treatment ,Chronic pain ,medicine ,medicine.disease ,Psychology ,behavioral disciplines and activities ,General Psychology ,Article ,Therapist characteristics - Abstract
The implementation of evidence-based psychotherapies, including patient-level measures such as penetration and rates of successfully completing a course of therapy, has received increasing attention. While much attention has been paid to the effect of patient-level factors on implementation, relatively little attention has been paid to therapist factors (e.g., professional training, experience). OBJECTIVE: The current study explores therapists’ decisions to offer a particular evidence-based psychotherapy (cognitive behavioral therapy for chronic pain; CBT-CP), whether and how they modify CBT-CP, and the relationship between these decisions and patient completion rates. METHODS: The study utilized survey responses from 141 Veterans Affairs therapists certified in CBT-CP. RESULTS: Therapists reported attempting CBT-CP with a little less than one half of their patients with chronic pain (mean = 48.8%, s.d.=35.7). Therapist were generally split between reporting modifying CBT-CP for either very few or most of their patients. After controlling for therapist characteristics and modification, therapist-reported percentage of patients with attempted CBT-CP was positively associated with completion rates, t (111) = 4.57, p
- Published
- 2022
24. Comparative Effectiveness of Cognitive Behavioral Therapy for Chronic Pain and Chronic Pain Self-Management within the Context of Voluntary Patient-Centered Prescription Opioid Tapering: The EMPOWER Study Protocol
- Author
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Ming-Chih J. Kao, Heather A Okvat, Brent Van Dorsten, Aram S. Mardian, Pamela Flood, Lu Tian, Kate Lorig, Luana Colloca, Matthias Cheung, Beth D. Darnall, Heather King, Mark P. McGovern, Luzmercy Perez, Jennifer L. Murphy, Richard L. Stieg, Korina DeBruyne, Joel Porter, Ting Pun, and Sean Mackey
- Subjects
medicine.medical_specialty ,Electronic data capture ,EMPOWER ,medicine.medical_treatment ,Comparative effectiveness research ,Context (language use) ,CHOIR ,Special Article ,Patient satisfaction ,Patient-Centered Care ,Humans ,Medicine ,taper ,Randomized Controlled Trials as Topic ,Self-management ,Cognitive Behavioral Therapy ,business.industry ,Self-Management ,Perspective & Commentary ,Chronic pain ,General Medicine ,Opioid-Related Disorders ,medicine.disease ,Analgesics, Opioid ,Opioids ,Cognitive behavioral therapy ,Prescriptions ,Anesthesiology and Pain Medicine ,Opioid ,Physical therapy ,Neurology (clinical) ,Chronic Pain ,AcademicSubjects/MED00010 ,business ,medicine.drug - Abstract
Objective. Evidence to date, while sparse, suggests that patients taking long-term opioids require special considerations and protections to prevent potential iatrogenic harms from opioid de-prescribing, such as increased pain or suffering. Following this study protocol, the EMPOWER study seeks to address multiple unmet needs of patients with chronic pain who desire to reduce long-term opioid therapy, and provide the clinical evidence on effective methodology. Methods. EMPOWER applies patient-centered methods for voluntary prescription opioid reduction conducted within a comprehensive, multi-state, 3-arm randomized controlled comparative effectiveness study of three study arms (1) group cognitive behavioral therapy for chronic pain; (2) group chronic pain self-management; and (3) usual care (taper only). Specialized electronic data capture systems collect patient reported symptoms and satisfaction data weekly and monthly during the taper, with real-time clinical alerts and electronic feedback loops informing, documenting, and steering needed care actions. Conclusion. The EMPOWER study seeks to provide granular evidence on patient response to voluntary opioid tapering, and will provide evidence to inform clinical systems changes, clinical care, patient satisfaction, and patient outcomes for opioid reduction.
- Published
- 2019
25. Shiga Toxin–Producing Escherichia coli Infections Associated With Romaine Lettuce—United States, 2018
- Author
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June Nash, Adiam Tesfai, Amanda Tiffany, Lyndsay Bottichio, Bozena M. Morawski, Amelia Keaton, Morgan N Schroeder, Amber Barnes, Deepam Thomas, Mark Otto, Anna Frick, Matthew E. Wise, Haley Martin, Kelly E. Kline, Laura Gieraltowski, Susan Lance, Jennifer L. Murphy, Colin Basler, Vincent R. Hill, Ian T. Williams, Kane Patel, Jeffrey Higa, Lori M. Gladney, Natasha Dowell, Wendy Taylor, Corinne Newhart, Angela Fields, Tara Fulton, Jennifer Fiddner, April Holland, Rachel Hinnenkamp, Francine Arroyo, Annabelle Salvatierra, Louise Francois Watkins, Sarah Correll, Laura Whitlock, Jeffrey Havens, Amy M. Kahler, Stic Harris, and Mia C Mattioli
- Subjects
0301 basic medicine ,Microbiology (medical) ,Veterinary medicine ,030106 microbiology ,Escherichia coli O157 ,medicine.disease_cause ,Disease cluster ,Disease Outbreaks ,Foodborne Diseases ,Food and drug administration ,03 medical and health sciences ,Humans ,Medicine ,Shiga toxin-producing Escherichia coli ,Escherichia coli ,Escherichia coli Infections ,Disease surveillance ,Shiga-Toxigenic Escherichia coli ,business.industry ,Pulsenet ,Outbreak ,Lettuce ,Pennsylvania ,United States ,030104 developmental biology ,Infectious Diseases ,Food Microbiology ,business ,National laboratory - Abstract
Background Produce-associated outbreaks of Shiga toxin–producing Escherichia coli (STEC) were first identified in 1991. In April 2018, New Jersey and Pennsylvania officials reported a cluster of STEC O157 infections associated with multiple locations of a restaurant chain. The Centers for Disease Control and Prevention (CDC) queried PulseNet, the national laboratory network for foodborne disease surveillance, for additional cases and began a national investigation. Methods A case was defined as an infection between 13 March and 22 August 2018 with 1 of the 22 identified outbreak-associated E. coli O157:H7 or E. coli O61 pulsed-field gel electrophoresis pattern combinations, or with a strain STEC O157 that was closely related to the main outbreak strain by whole-genome sequencing. We conducted epidemiologic and traceback investigations to identify illness subclusters and common sources. A US Food and Drug Administration–led environmental assessment, which tested water, soil, manure, compost, and scat samples, was conducted to evaluate potential sources of STEC contamination. Results We identified 240 case-patients from 37 states; 104 were hospitalized, 28 developed hemolytic uremic syndrome, and 5 died. Of 179 people who were interviewed, 152 (85%) reported consuming romaine lettuce in the week before illness onset. Twenty subclusters were identified. Product traceback from subcluster restaurants identified numerous romaine lettuce distributors and growers; all lettuce originated from the Yuma growing region. Water samples collected from an irrigation canal in the region yielded the outbreak strain of STEC O157. Conclusions We report on the largest multistate leafy greens–linked STEC O157 outbreak in several decades. The investigation highlights the complexities associated with investigating outbreaks involving widespread environmental contamination.
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- 2019
26. Testing the moderating role of victimization and microaggressions on the relationship between human-animal interaction and psychological adjustment among LGBTQ+ emerging adults
- Author
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Camie A. Tomlinson, Jennifer L. Murphy, Joanne M. Williams, Roxanne D. Hawkins, Angela Matijczak, Jennifer W. Applebaum, and Shelby E. McDonald
- Subjects
human-animal interaction ,psychological adjustment ,microaggressions ,LGBTQ ,education ,victimization ,behavior and behavior mechanisms ,companion animals ,minority stress ,social sciences ,humanities - Abstract
Human-animal interaction (HAI) is associated with positive psychological adjustment. Although these benefits are hypothesized to be most pronounced for individuals who experience adversity and compromised social relationships, such as LGBTQ+ (lesbian, gay, bisexual, transgender, queer, and other sexual/gender minority identities) individuals, this hypothesis has not been tested. The current, cross-sectional study examined whether the strength of the relationship between emotional comfort from companion animals and self-esteem and personal hardiness varies as a function of exposure to LGBTQ+ interpersonal stressors (i.e., victimization, microaggressions). Our sample included 155 LGBTQ+ emerging adults who lived with a dog and/or cat in the past year (Mage = 19.34 years, SD = 1.12 years). To test the hypothesis, we conducted simple and multiple moderation analyses. We found evidence that the magnitude of the association between comfort from companion animals and personal hardiness was greater for those who experienced high levels of interpersonal microaggressions. Similarly, victimization moderated the relation between comfort from companion animals and self-esteem. Including victimization and interpersonal microaggressions in the same model resulted in only one significant interaction effect: the relation between comfort from companion animals and self-esteem was positive at high levels of victimization and negative at low levels of victimization. Our results suggest that among LGBTQ+ emerging adults, the benefits of HAI on self-esteem were only present when high levels of victimization were reported. Future research should continue to examine factors that may influence the benefits and risks associated with HAI to identify for whom and under what circumstances HAI is beneficial.
- Published
- 2021
27. Psychometric Evaluation of the Comfort from Companion Animals Scale in a Sexual and Gender Minority Sample
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Jennifer L. Murphy, Angela Matijczak, Shelby E. McDonald, Camie A. Tomlinson, and Sarah K. Pittman
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animal structures ,Sociology and Political Science ,Veterinary (miscellaneous) ,virus diseases ,Sample (statistics) ,Popularity ,Article ,Education ,Human animal bond ,Anthropology ,Scale (social sciences) ,Animal Science and Zoology ,Psychology ,Inclusion (education) ,Clinical psychology - Abstract
Human–animal interaction research is growing in popularity and methodological rigor; however, there remains a need for psychometrically validated measures and inclusion of broader populations. This study addressed these gaps by reporting on the psychometric properties of the Comfort from Companion Animals Scale (CCAS) in a sample of sexual and gender minority emerging adults. Participants included 138 emerging adults between the ages of 18–21 years (M = 19.33 years, SD = 1.11; 38.4% racial/ethnic minority) who identified as a gender (48.6%) and/or sexual minority (98.6%) and who reported living with a companion animal in the past year. We utilized the following analytic methods: (a) confirmatory factor analyses to compare the unidimensional structure of the CCAS with the two alternative models, (b) multiple group analyses to test measurement invariance across demographic groups, and (c) structural equation models to evaluate construct validity. Preliminary analysis found that the majority of participants did not endorse the two lowest response options. To conduct invariance testing, we eliminated items 3, 5, and 8 from the CCAS and collapsed the lowest response options. The results of the confirmatory factor analysis supported the use of this revised unidimensional model. We found evidence of measurement invariance across gender identity, sexual orientation, and race/ethnicity groups. Construct validity was supported by comparing the CCAS with factors on the Pet Attachment and Life Impact Scale; the positive association between the CCAS and anxiety are discussed in the context of prior research. Overall, our findings highlight the importance of validating human–animal interaction measures across samples from diverse backgrounds. We recommend that future studies continue to test the CCAS and other measures of human–animal attachment among diverse samples to delineate which aspects of human–animal interaction may be most beneficial in promoting mental health in vulnerable populations.
- Published
- 2021
28. Patients' perspectives of brief cognitive behavioral therapy for chronic pain: Treatment satisfaction, perceived utility, and global assessment of change
- Author
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Wade R. Goldstein, Gregory P. Beehler, Paul R. King, Lisa K. Kearney, Jennifer L. Murphy, Travis A. Loughran, and Katherine M. Dollar
- Subjects
Biopsychosocial model ,medicine.medical_specialty ,Descriptive statistics ,Cognitive Behavioral Therapy ,business.industry ,medicine.medical_treatment ,Chronic pain ,PsycINFO ,Personal Satisfaction ,medicine.disease ,Brief psychotherapy ,Primary Care Behavioral health ,Cognitive behavioral therapy ,Psychiatry and Mental health ,Treatment Outcome ,Patient Satisfaction ,Intervention (counseling) ,medicine ,Physical therapy ,Humans ,Pain Management ,Chronic Pain ,business ,Applied Psychology - Abstract
Introduction: Brief Cognitive Behavioral Therapy for Chronic Pain (Brief CBT-CP) is a biopsychosocial treatment designed to improve access to nonpharmacological pain care in primary care. Results from a clinical demonstration project in Veterans Health Administration (VHA) clinics showed rapid improvement in pain outcomes following Brief CBT-CP treatment in Primary Care Behavioral Health (PCBH). As part of this larger project, the current work aimed to understand patients' perspectives of Brief CBT-CP via a self-report survey completed posttreatment. Method: Thirty-four primary care patients received Brief CBT-CP as part of their usual VHA care and subsequently completed an anonymous survey that included questions regarding treatment modality, intervention content, utility, and satisfaction, as well as global assessment of change in pain-related functioning. Results: Participants reported that Brief CBT-CP content was useful (91%) and that they were satisfied with the intervention overall (89%), including appointment length, frequency of encounters, and comprehensibility of content. On average (M = 4.50, SD = 1.71), participants reported "somewhat better" to "moderately better" pain-related functioning following treatment. Exploratory descriptive analysis indicated that self-reported change in function following treatment may vary by patient characteristics, including gender and opioid use history. Discussion: Patients were receptive to Brief CBT-CP, were satisfied with their experience during treatment, and reported benefit in pain-related functioning after treatment. Further development and evaluation of Brief CBT-CP as a feasible biopsychosocial treatment option for pain in primary care clinics using the PCBH model of integration is warranted. (PsycInfo Database Record (c) 2021 APA, all rights reserved).
- Published
- 2021
29. Functional analysis of a de novo variant in the neurodevelopment and generalized epilepsy disease gene NBEA
- Author
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Mark P. Gorman, Alice Leclercq-Blondel, Shino Shimada, Tim Schedl, Stephen C. Pak, Sonia El Mouridi, Thomas Boulin, Gary A. Silverman, Anika Lindsey, May Christine V. Malicdan, Marie Gendrel, Omar Itani, Ariane Soldatos, Darian Turner, Ellen Macnamara, Dustin Baldridge, Jennifer L. Murphy, Institut NeuroMyoGène (INMG), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM), Washington University School of Medicine in St. Louis, Washington University in Saint Louis (WUSTL), Institut de biologie de l'ENS Paris (IBENS), Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Département de Biologie - ENS Paris, École normale supérieure - Paris (ENS Paris), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-École normale supérieure - Paris (ENS Paris), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), National Institutes of Health [Bethesda] (NIH), Boston Children's Hospital, Harvard Medical School [Boston] (HMS), Undiagnosed Diseases Network, Boulin, Thomas, Université de Lyon-Université de Lyon-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Département de Biologie - ENS Paris, École normale supérieure - Paris (ENS-PSL), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-École normale supérieure - Paris (ENS-PSL), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), and Institut de biologie de l'ENS Paris (UMR 8197/1024) (IBENS)
- Subjects
Candidate gene ,Potassium Channels ,Endocrinology, Diabetes and Metabolism ,Nerve Tissue Proteins ,[SDV.BC.BC]Life Sciences [q-bio]/Cellular Biology/Subcellular Processes [q-bio.SC] ,Cell fate determination ,Biochemistry ,03 medical and health sciences ,Epilepsy ,0302 clinical medicine ,Endocrinology ,Genetics ,medicine ,[SDV.BC.BC] Life Sciences [q-bio]/Cellular Biology/Subcellular Processes [q-bio.SC] ,Missense mutation ,Animals ,Humans ,Generalized epilepsy ,Pathology, Molecular ,Caenorhabditis elegans ,Caenorhabditis elegans Proteins ,Child ,Molecular Biology ,ComputingMilieux_MISCELLANEOUS ,030304 developmental biology ,Gene Editing ,0303 health sciences ,biology ,Genetic Variation ,medicine.disease ,biology.organism_classification ,Null allele ,Neurodevelopmental Disorders ,Female ,Domain of unknown function ,Carrier Proteins ,030217 neurology & neurosurgery - Abstract
Neurobeachin (NBEA) was initially identified as a candidate gene for autism. Recently, variants in NBEA have been associated with neurodevelopmental delay and childhood epilepsy. Here, we report on a novel NBEA missense variant (c.5899G > A, p.Gly1967Arg) in the Domain of Unknown Function 1088 (DUF1088) identified in a child enrolled in the Undiagnosed Diseases Network (UDN), who presented with neurodevelopmental delay and seizures. Modeling of this variant in the Caenorhabditis elegans NBEA ortholog, sel-2, indicated that the variant was damaging to in vivo function as evidenced by altered cell fate determination and trafficking of potassium channels in neurons. The variant effect was indistinguishable from that of the reference null mutation suggesting that the variant is a strong hypomorph or a complete loss-of-function. Our experimental data provide strong support for the molecular diagnosis and pathogenicity of the NBEA p.Gly1967Arg variant and the importance of the DUF1088 for NBEA function.
- Published
- 2021
30. Progressive cerebellar atrophy in a patient with complex II and III deficiency and a novel deleterious variant in SDHA: A Counseling Conundrum
- Author
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Shannon K. Kruk, Eliza Gordon-Lipkin, Beattie R. H. Sturrock, Ivan Yang, Cyndi J. Tifft, Ellen Macnamara, Peter J. McGuire, and Jennifer L. Murphy
- Subjects
0301 basic medicine ,Male ,Ataxia ,Mitochondrial Diseases ,Cerebellar Ataxia ,Mitochondrial disease ,Cardiomyopathy ,SDHA ,Respiratory chain ,030105 genetics & heredity ,QH426-470 ,Clinical Reports ,03 medical and health sciences ,Electron Transport Complex III ,cerebellar atrophy ,Genetics ,Medicine ,Humans ,Child ,Molecular Biology ,Gene ,Genetics (clinical) ,Cells, Cultured ,Clinical Report ,complex II ,SHDA ,business.industry ,Electron Transport Complex II ,Fibroblasts ,medicine.disease ,Hypotonia ,mitochondrial disease ,030104 developmental biology ,Mutation ,Cerebellar atrophy ,medicine.symptom ,novel mutation ,business ,Metabolism, Inborn Errors - Abstract
Background Complex II is an essential component of the electron transport chain, linking it with the tricarboxylic acid cycle. Its four subunits are encoded in the nuclear genome, and deleterious variants in these genes, including SDHA (OMIM 600857), are associated with a wide range of symptoms including neurological disease, cardiomyopathy, and neoplasia (paraganglioma‐pheochromocytomas (PGL/PCC), and gastrointestinal stromal tumors). Deleterious variants of SDHA are most frequently associated with Leigh and Leigh‐like syndromes. Methods and Results Here, we describe a case of a 9‐year‐old boy with tremor, nystagmus, hypotonia, developmental delay, significant ataxia, and progressive cerebellar atrophy. He was found to have biallelic variants in SDHA, a known pathogenic variant (c.91C>T (p.R31*)), and a variant of unknown significance (c.454G>A (p.E152K)). Deficient activity of complexes II and III was detected in fibroblasts from the patient consistent with a diagnosis of a respiratory chain disorder. Conclusion We, therefore, consider whether c.454G>A (p.E152K) is, indeed, a pathogenic variant, and what implications it has for family members who carry the same variant., Progressive cerebellar atrophy in a patient with complexes II and III deficiency and SDHA compound heterozygous variants. These variants were considered pathogenic, given respiratory chain findings, and the family was counseled based on the presence of pathogenic variants.
- Published
- 2021
31. Brief Cognitive Behavioral Therapy For Chronic Pain
- Author
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Jennifer L. Murphy, Aaron K. Haslam, Katherine M. Dollar, Michael Wade, Gregory P. Beehler, Wade R. Goldstein, Paul R. King, and Lisa K. Kearney
- Subjects
Adult ,Male ,medicine.medical_specialty ,medicine.medical_treatment ,Treatment outcome ,Specialty ,MEDLINE ,Primary Care Behavioral health ,Care setting ,03 medical and health sciences ,0302 clinical medicine ,030202 anesthesiology ,Intervention (counseling) ,medicine ,Humans ,Cognitive Behavioral Therapy ,Primary Health Care ,business.industry ,Chronic pain ,Middle Aged ,medicine.disease ,Cognitive behavioral therapy ,Treatment Outcome ,Anesthesiology and Pain Medicine ,Physical therapy ,Female ,Neurology (clinical) ,Chronic Pain ,business ,030217 neurology & neurosurgery - Abstract
Although cognitive behavioral therapy is an effective intervention for chronic pain, it is a lengthy treatment typically applied only in specialty care settings. The aim of this project was to collect preliminary effectiveness data for Brief Cognitive Behavioral Therapy for Chronic Pain (Brief CBT-CP), an abbreviated, modular form of treatment designed for use in primary care.A clinical demonstration project was conducted in which Brief CBT-CP was delivered to primary care patients by 22 integrated care providers practicing in the Primary Care Behavioral Health model of Veterans Health Administration primary care clinics. Brief measures were used at each appointment to collect patient-reported clinical outcomes.One hundred eighteen patients provided sufficient data for analysis (male, 75%; mean age, 51.4 y). Multilevel modeling suggested that a composite measure of pain intensity and functional limitations showed statistically significant improvements by the third appointment (Cohen's d=0.65). Pain-related self-efficacy outcomes showed a similar pattern of results but of smaller effect size (Cohen's d=0.22). The exploratory analysis identified that Brief CBT-CP modules addressing psychoeducation and goal setting, pacing, and relaxation training were associated with the most significant gains in treatment outcomes.These findings provide early support for the effectiveness of Brief CBT-CP when delivered by providers in every day Primary Care Behavioral Health settings. Results are discussed in relation to the need for additional research regarding the potential value of employing safe, population-based, nonpharmacological approaches to pain management in primary care.
- Published
- 2019
32. Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay
- Author
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Keren Machol, Justine Rousseau, Sophie Ehresmann, Thomas Garcia, Thi Tuyet Mai Nguyen, Rebecca C. Spillmann, Jennifer A. Sullivan, Vandana Shashi, Yong-hui Jiang, Nicholas Stong, Elise Fiala, Marcia Willing, Rolph Pfundt, Tjitske Kleefstra, Megan T. Cho, Heather McLaughlin, Monica Rosello Piera, Carmen Orellana, Francisco Martínez, Alfonso Caro-Llopis, Sandra Monfort, Tony Roscioli, Cheng Yee Nixon, Michael F. Buckley, Anne Turner, Wendy D. Jones, Peter M. van Hasselt, Floris C. Hofstede, Koen L.I. van Gassen, Alice S. Brooks, Marjon A. van Slegtenhorst, Katherine Lachlan, Jessica Sebastian, Suneeta Madan-Khetarpal, Desai Sonal, Naidu Sakkubai, Julien Thevenon, Laurence Faivre, Alice Maurel, Slavé Petrovski, Ian D. Krantz, Jennifer M. Tarpinian, Jill A. Rosenfeld, Brendan H. Lee, Philippe M. Campeau, David R. Adams, Mercedes E. Alejandro, Patrick Allard, Mahshid S. Azamian, Carlos A. Bacino, Ashok Balasubramanyam, Hayk Barseghyan, Gabriel F. Batzli, Alan H. Beggs, Babak Behnam, Anna Bican, David P. Bick, Camille L. Birch, Devon Bonner, Braden E. Boone, Bret L. Bostwick, Lauren C. Briere, Donna M. Brown, Matthew Brush, Elizabeth A. Burke, Lindsay C. Burrage, Shan Chen, Gary D. Clark, Terra R. Coakley, Joy D. Cogan, Cynthia M. Cooper, Heidi Cope, William J. Craigen, Precilla D’Souza, Mariska Davids, Jyoti G. Dayal, Esteban C. Dell’Angelica, Shweta U. Dhar, Ani Dillon, Katrina M. Dipple, Laurel A. Donnell-Fink, Naghmeh Dorrani, Daniel C. Dorset, Emilie D. Douine, David D. Draper, David J. Eckstein, Lisa T. Emrick, Christine M. Eng, Ascia Eskin, Cecilia Esteves, Tyra Estwick, Carlos Ferreira, Brent L. Fogel, Noah D. Friedman, William A. Gahl, Emily Glanton, Rena A. Godfrey, David B. Goldstein, Sarah E. Gould, Jean-Philippe F. Gourdine, Catherine A. Groden, Andrea L. Gropman, Melissa Haendel, Rizwan Hamid, Neil A. Hanchard, Lori H. Handley, Matthew R. Herzog, Ingrid A. Holm, Jason Hom, Ellen M. Howerton, Yong Huang, Howard J. Jacob, Mahim Jain, Jean M. Johnston, Angela L. Jones, Isaac S. Kohane, Donna M. Krasnewich, Elizabeth L. Krieg, Joel B. Krier, Seema R. Lalani, C. Christopher Lau, Jozef Lazar, Hane Lee, Shawn E. Levy, Richard A. Lewis, Sharyn A. Lincoln, Allen Lipson, Sandra K. Loo, Joseph Loscalzo, Richard L. Maas, Ellen F. Macnamara, Calum A. MacRae, Valerie V. Maduro, Marta M. Majcherska, May Christine V. Malicdan, Laura A. Mamounas, Teri A. Manolio, Thomas C. Markello, Ronit Marom, Julian A. Martínez-Agosto, Shruti Marwaha, Thomas May, Allyn McConkie-Rosell, Colleen E. McCormack, Alexa T. McCray, Matthew Might, Paolo M. Moretti, Marie Morimoto, John J. Mulvihill, Jennifer L. Murphy, Donna M. Muzny, Michele E. Nehrebecky, Stan F. Nelson, J. Scott Newberry, John H. Newman, Sarah K. Nicholas, Donna Novacic, Jordan S. Orange, J. Carl Pallais, Christina G.S. Palmer, Jeanette C. Papp, Neil H. Parker, Loren D.M. Pena, John A. Phillips, Jennifer E. Posey, John H. Postlethwait, Lorraine Potocki, Barbara N. Pusey, Chloe M. Reuter, Amy K. Robertson, Lance H. Rodan, Jacinda B. Sampson, Susan L. Samson, Kelly Schoch, Molly C. Schroeder, Daryl A. Scott, Prashant Sharma, Rebecca Signer, Edwin K. Silverman, Janet S. Sinsheimer, Kevin S. Smith, Kimberly Splinter, Joan M. Stoler, David A. Sweetser, Cynthia J. Tifft, Camilo Toro, Alyssa A. Tran, Tiina K. Urv, Zaheer M. Valivullah, Eric Vilain, Tiphanie P. Vogel, Colleen E. Wahl, Nicole M. Walley, Chris A. Walsh, Patricia A. Ward, Katrina M. Waters, Monte Westerfield, Anastasia L. Wise, Lynne A. Wolfe, Elizabeth A. Worthey, Shinya Yamamoto, Yaping Yang, Guoyun Yu, Diane B. Zastrow, Allison Zheng, and Clinical Genetics
- Subjects
Male ,0301 basic medicine ,Hypertrichosis ,speech delay ,Bafopathy ,Developmental Disabilities ,CACNB4 ,0302 clinical medicine ,Neurodevelopmental disorder ,Intellectual disability ,Bafopathy, developmental delay, dysmorphisms, genotype-phenotype correlation, intellectual disability, neurodevelopmental disorder, speech delay, transcriptome ,Genetics(clinical) ,Child ,Genetics (clinical) ,Genetics ,Syndrome ,Hypotonia ,DNA-Binding Proteins ,developmental delay ,Corticogenesis ,intellectual disability ,Child, Preschool ,Speech delay ,Female ,medicine.symptom ,Hand Deformities, Congenital ,dysmorphisms ,Adolescent ,Micrognathism ,genotype-phenotype correlation ,Biology ,Chromatin remodeling ,03 medical and health sciences ,Journal Article ,medicine ,Humans ,Abnormalities, Multiple ,Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7] ,medicine.disease ,neurodevelopmental disorder ,Reelin Protein ,Renal disorders Radboud Institute for Molecular Life Sciences [Radboudumc 11] ,030104 developmental biology ,Face ,Mutation ,biology.protein ,transcriptome ,Neck ,030217 neurology & neurosurgery ,Transcription Factors - Abstract
Contains fulltext : 202800.pdf (Publisher’s version ) (Open Access) SMARCC2 (BAF170) is one of the invariable core subunits of the ATP-dependent chromatin remodeling BAF (BRG1-associated factor) complex and plays a crucial role in embryogenesis and corticogenesis. Pathogenic variants in genes encoding other components of the BAF complex have been associated with intellectual disability syndromes. Despite its significant biological role, variants in SMARCC2 have not been directly associated with human disease previously. Using whole-exome sequencing and a web-based gene-matching program, we identified 15 individuals with variable degrees of neurodevelopmental delay and growth retardation harboring one of 13 heterozygous variants in SMARCC2, most of them novel and proven de novo. The clinical presentation overlaps with intellectual disability syndromes associated with other BAF subunits, such as Coffin-Siris and Nicolaides-Baraitser syndromes and includes prominent speech impairment, hypotonia, feeding difficulties, behavioral abnormalities, and dysmorphic features such as hypertrichosis, thick eyebrows, thin upper lip vermilion, and upturned nose. Nine out of the fifteen individuals harbor variants in the highly conserved SMARCC2 DNA-interacting domains (SANT and SWIRM) and present with a more severe phenotype. Two of these individuals present cardiac abnormalities. Transcriptomic analysis of fibroblasts from affected individuals highlights a group of differentially expressed genes with possible roles in regulation of neuronal development and function, namely H19, SCRG1, RELN, and CACNB4. Our findings suggest a novel SMARCC2-related syndrome that overlaps with neurodevelopmental disorders associated with variants in BAF-complex subunits.
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- 2019
33. Detection and identification of Giardia species using real-time PCR and sequencing
- Author
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Jennifer L. Murphy, Vincent R. Hill, and Narayanan Jothikumar
- Subjects
Microbiology (medical) ,Giardiasis ,Genotype ,Giardia ,Sequence Analysis, DNA ,Biology ,biology.organism_classification ,Real-Time Polymerase Chain Reaction ,Microbiology ,DNA, Ribosomal ,18S ribosomal RNA ,Giardia species ,law.invention ,Feces ,Real-time polymerase chain reaction ,law ,parasitic diseases ,TaqMan ,RNA, Ribosomal, 18S ,GIARDIA SPP ,Molecular Biology ,Gene ,Polymerase chain reaction - Abstract
We report a specific region of Giardia spp. 18S ribosomal RNA (18S rDNA) that serves as an ideal target for quantitative PCR (qPCR) detection and sequencing to identify Giardia species, including the clinically-relevant G. duodenalis , in clinical and environmental samples. The presence of multiple copies of the 18S rDNA gene and variations in the selected 18S genomic region enabled the development of a rapid, sensitive qPCR screening method for the detection of Giardia spp. The analytical sensitivity of the Giardia qPCR assay was determined to be a cyst equivalent of 0.4 G. duodenalis cysts per PCR reaction. Amplicon sequencing of the PCR product confirmed Giardia spp. detection and among the 35 sequences obtained, 31, 3 and 1 isolates were classified as belonging to G. duodenalis, G. microti and G. muris , respectively. The TaqMan assay reported here may be useful for the detection of low levels of Giardia in clinical and environmental samples, and further enables the effective use of direct sequencing of the PCR product for Giardia confirmation and to identify major species of Giardia, including G. duodenalis.
- Published
- 2021
34. Attachment to Pets Moderates Transitions in Latent Patterns of Mental Health Following the Onset of the COVID-19 Pandemic: Results of a Survey of U.S. Adults
- Author
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Kelly E. O’Connor, Jennifer W. Applebaum, Jennifer L. Murphy, Shelby E. McDonald, Barbara A. Zsembik, Angela Matijczak, and Camie A. Tomlinson
- Subjects
2019-20 coronavirus outbreak ,dogs ,Coronavirus disease 2019 (COVID-19) ,Article ,Odds ,03 medical and health sciences ,0302 clinical medicine ,Pandemic ,lcsh:Zoology ,Medicine ,030212 general & internal medicine ,lcsh:QL1-991 ,lcsh:Veterinary medicine ,General Veterinary ,business.industry ,Risk effect ,cats ,COVID-19 ,latent transition analysis ,Mental health ,Mild symptoms ,Latent transition analysis ,lcsh:SF600-1100 ,Animal Science and Zoology ,pets ,business ,030217 neurology & neurosurgery ,mental health ,Clinical psychology - Abstract
Simple Summary The COVID-19 pandemic has contributed to elevated rates of mental health problems and distress among the U.S. population. Pets may be an important source of social support to combat social isolation. This cross-sectional study used latent profile analysis to identify subgroups of U.S. pet owners based on their perceived mental health symptoms prior to and after the onset of the pandemic. Latent transition analysis was used to determine the stability of subgroup membership and examine the effect of attachment to pets on transition probabilities. Five subgroups were identified: low symptoms, mild symptoms, moderate symptoms, high symptoms, and severe symptoms. Evidence of moderation was found, X2(16) = 41.47, p = 0.04. Specifically, results indicated that attachment to pets functioned as a protective factor for individuals exhibiting moderate and high levels of mental health symptoms, as above average attachment to pets was associated with greater odds of transitioning to a less severe symptom profile. However, individuals with severe symptom profiles and high attachment to pets fared worst in the context of COVID-19 restrictions. This study has important implications for future research investigating the role of pets on mental health and for those providing services to pet owners during the COVID-19 pandemic. Abstract This cross-sectional study examined whether, and to what extent, attachment to pets was associated with changes in latent patterns of adults’ perceived mental health symptoms during the COVID-19 pandemic (n = 1942). We used latent transition analysis to determine the stability of subgroup membership pre- and post-COVID and the effect of attachment to pets on transition probabilities. Mental health before COVID-19 was measured retrospectively. Five subgroups were identified: low symptoms, mild symptoms, moderate symptoms, high symptoms, and severe symptoms. Among individuals in the moderate and high symptoms subgroups, those who reported high attachment to pets generally had greater odds of transitioning to a less severe symptom profile (OR = 2.12) over time than those with low attachment to pets (OR = 1.39). However, those who had a severe symptom profile and high attachment to pets had lower odds of transitioning to a less severe symptom profile (OR = 0.30) and higher odds of maintaining a severe symptom profile (OR = 3.33) than those with low attachment to pets. These findings suggest that the protective and risk effects of attachment to pets differ based on individuals’ psychological symptom patterns across multiple indicators. We discuss the implications of these findings for research, policy, and practice.
- Published
- 2021
35. Removal and Inactivation of an Enveloped Virus Surrogate by Iron Conventional Coagulation and Electrocoagulation
- Author
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Anindito Sen, Kyungho Kim, Narayanan Jothikumar, Jennifer L. Murphy, and Shankararaman Chellam
- Subjects
Virus quantification ,Chemistry ,medicine.medical_treatment ,Iron ,Portable water purification ,General Chemistry ,010501 environmental sciences ,Wastewater ,medicine.disease_cause ,01 natural sciences ,Virus ,Electrocoagulation ,Water Purification ,Viral envelope ,Biophysics ,medicine ,Coagulation (water treatment) ,Environmental Chemistry ,Humans ,Virus Inactivation ,Water treatment ,0105 earth and related environmental sciences ,Coronavirus - Abstract
It is imperative to understand the behavior of enveloped viruses during water treatment to better protect public health, especially in the light of evidence of detection of coronaviruses in wastewater. We report bench-scale experiments evaluating the extent and mechanisms of removal and/or inactivation of a coronavirus surrogate (ϕ6 bacteriophage) in water by conventional FeCl3 coagulation and Fe(0) electrocoagulation. Both coagulation methods achieved ∼5-log removal/inactivation of ϕ6 in 20 min. Enhanced removal was attributed to the high hydrophobicity of ϕ6 imparted by its characteristic phospholipid envelope. ϕ6 adhesion to freshly precipitated iron (hydr)oxide also led to envelope damage causing inactivation in both coagulation techniques. Fourier transform infrared spectroscopy revealed oxidative damages to ϕ6 lipids only for electrocoagulation consistent with electro-Fenton reactions. Monitoring ϕ6 dsRNA by a novel reverse transcription quantitative polymerase chain reaction (RT-qPCR) method quantified significantly lower viral removal/inactivation in water compared with the plaque assay demonstrating that relying solely on RT-qPCR assays may overstate human health risks arising from viruses. Transmission electron microscopy and computationally generated electron density maps of ϕ6 showed severe morphological damages to virus' envelope and loss of capsid volume accompanying coagulation. Both conventional and electro- coagulation appear to be highly effective in controlling enveloped viruses during surface water treatment.
- Published
- 2021
36. Treatment approaches: The evidence
- Author
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Jennifer L. Murphy and Samantha Rafie
- Published
- 2021
37. Introduction
- Author
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Jennifer L. Murphy and Samantha Rafie
- Published
- 2021
38. The patient–provider relationship
- Author
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Samantha Rafie and Jennifer L. Murphy
- Subjects
Patient-provider relationship ,business.industry ,medicine ,Medical emergency ,medicine.disease ,business - Published
- 2021
39. Exchange expectations and address resistance
- Author
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Jennifer L. Murphy and Samantha Rafie
- Subjects
Resistance (ecology) ,Economics ,Monetary economics - Published
- 2021
40. Afterword: Conclusions
- Author
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Jennifer L. Murphy and Samantha Rafie
- Published
- 2021
41. Develop a maintenance plan
- Author
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Samantha Rafie and Jennifer L. Murphy
- Subjects
Maintenance plan ,Operations management ,Business - Published
- 2021
42. Develop goals and a treatment plan
- Author
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Jennifer L. Murphy and Samantha Rafie
- Subjects
Treatment plan ,Operations management ,Business - Published
- 2021
43. Address setbacks
- Author
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Jennifer L. Murphy and Samantha Rafie
- Published
- 2021
44. Chronic pain and opioids
- Author
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Jennifer L. Murphy and Samantha Rafie
- Subjects
business.industry ,Anesthesia ,Chronic pain ,medicine ,medicine.disease ,business - Published
- 2021
45. Chronic pain and opioid management: Strategies for integrated treatment
- Author
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Jennifer L. Murphy and Samantha Rafie
- Subjects
medicine.medical_specialty ,Opioid ,business.industry ,Chronic pain ,medicine ,medicine.disease ,Intensive care medicine ,business ,medicine.drug - Published
- 2021
46. Reinforce resources
- Author
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Jennifer L. Murphy and Samantha Rafie
- Published
- 2021
47. Address common barriers
- Author
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Samantha Rafie and Jennifer L. Murphy
- Published
- 2021
48. Monitor and manage symptoms
- Author
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Samantha Rafie and Jennifer L. Murphy
- Published
- 2021
49. Evaluate the patient’s functioning and well-being
- Author
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Jennifer L. Murphy and Samantha Rafie
- Subjects
medicine.medical_specialty ,business.industry ,Physical therapy ,medicine ,business - Published
- 2021
50. Practice helpful strategies
- Author
-
Samantha Rafie and Jennifer L. Murphy
- Published
- 2021
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