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Identification Of Candidate Cardiomyopathy Modifier Genes Through Genome Sequencing And Rna Profiling, Malene E Lindholm, Gerald W Dorn, Et Al.

2020-Current year OA Pubs

BACKGROUND: Phenotypic heterogeneity is apparent among individuals with putative monogenic disease, such as familial hypertrophic cardiomyopathy. Genome sequencing (GS) allows interrogation of the full spectrum of inborn genetic variation in an individual and RNA profiling provides a snapshot of the cardiac-specific pathogenic effects on gene expression.

OBJECTIVES: Identify candidate genetic modifiers of hypertrophic cardiomyopathy phenotype.

METHODS: We performed GS of 48 individuals with variants in

RESULTS: GS identified the

CONCLUSION: Evaluation of the whole genome, even in the case of alleged monogenic disease, leads to important new insights. The identified variants, regions, and genes are candidates to modify disease presentation …

"I Feel Like People Would Look At Me Like I'M Dirty Or Like I'M A Thief:" A Qualitative Exploration Of Interpersonal And Intrapersonal Experiences That Influence Recovery Among Adults At Risk Of Opioid-Related Overdose, Hannah S Szlyk, Sara Jones, Jordan Michener, Zhuoran Zhang, Nina Kaiser, Heidi Holtz, Melody Rachel Konadu Frempong, Husain Lateef, William Hutson, Patricia Cavazos-Rehg

2020-Current year OA Pubs

OBJECTIVE: Due to the nature of early termination of treatment and the transient lifestyles of many people who use substances, many providers are unaware of the factors that may have contributed to their client's engagement in treatment. Treatment providers and researchers need a better understanding of intrapersonal and interpersonal factors that impact recovery from the clients' perspective. This study uses qualitative methods to explore these factors.

METHODS: Eligible participants were adults who had used opioids and/or stimulants and were receiving treatment at a consenting facility. Participants completed one-month follow-up interviews after using a mobile health intervention. Transcripts were analyzed using …

Barriers And Facilitators To Implementing A Task-Sharing Mental Health Intervention For Sickle Cell Disease Populations In Low- And Middle-Income Countries: A Qualitative Analysis Using The Consolidated Framework For Implementation Research (Cfir), John Patena, Leah Elster, Tania Hameed, Sumedha Kulkarni, Alden Yuanhong Lai, Annika C Sweetland, Joyce Gyamfi, Temitope Ojo, Angela Odoms-Young, Charmaine Royal, Emmanuel Peprah

2020-Current year OA Pubs

BACKGROUND: People living with Sickle Cell Disease (SCD) experience higher rates of common mental disorders (CMD). There is an alarming treatment gap in the provision of adequate mental health services for CMDs in low- and middle-income countries (LMIC). One solution is the implementation of task-sharing interventions such as the Friendship Bench which utilizes concepts of problem-solving therapy (PST). This investigation uses a qualitative study design to evaluate the acceptability and feasibility of implementing a PST-based task-sharing mental health intervention for SCD populations in LMICs using the Consolidated Framework for Implementation Research (CFIR).

METHODS: Purposive, convenience, and snowball sampling strategies were …

Evaluating And Supporting Leadership, Management, And Mentoring: A Framework For Catalyzing Responsible Research And Healthy Research Environments, Tristan Mcintosh, Alison L Antes

2020-Current year OA Pubs

Those who lead research teams have myriad roles and responsibilities that are pivotal to both producing rigorous and responsible scientific work and creating a supportive research environment that cultivates this work. We begin by presenting a leadership, management, and mentoring (LMM) framework focused on three critical roles researchers must play that have direct impact on the scientific work, the work environment, and research team dynamics: the role of research leader, research manager, and research mentor. Research leadership involves fostering a healthy research culture by building relationships where team members feel respected and supported. Research management involves providing oversight and direction …

Perceptions Of Oral Corticosteroid Use For Children With Asthma In A Survey Of Us Caregivers, Nina C Ramirez, Vivian Hernandez-Trujillo, Kaharu Sumino, Dennis Williams, Mitu Patel, Donna D Gardner

2020-Current year OA Pubs

INTRODUCTION: Oral corticosteroids (OCS) are an essential component of asthma treatment, but their long-term effects can be serious and cumulative. Potentially serious effects include adrenal suppression and psychological effects. To mitigate side effects, OCS use should be minimized. A survey of caregivers in the US was conducted to determine their perceptions of OCS use for their child with asthma.

METHODS: Individuals who participated in US consumer research panels were invited to complete an online cross-sectional survey from October-November 2023. Eligible participants were caregivers of a child ages 6-17 years currently being treated for asthma by a healthcare provider and who …

Abdominal Myosteatosis Measured With Computed Tomography Predicts Poor Outcomes In Patients With Glioblastoma, Farzaneh Rahmani, David H Ballard, Tammie L S Benzinger, Sonika Dahiya, John Evans, Sara Hosseinzadeh Kassani, Cyrus A Raji, Marilyn J Siegel, Joseph E Ippolito, Et Al.

2020-Current year OA Pubs

BACKGROUND: Alterations in cellular metabolism affect cancer survival and can manifest in metrics of body composition. We investigated the effects of various body composition metrics on survival in patients with glioblastoma (GBM).

METHODS: We retrospectively analyzed patients who had an abdominal and pelvic computed tomography (CT) scan performed within 1 month of diagnosis of GBM (178 participants, 102 males, 76 females, median age: 62.1 years). Volumetric body composition metrics were derived using automated CT segmentation of adipose tissue, skeletal muscle, and aortic calcification from L1 to L5. Univariable and multivariable Cox proportional hazards models were performed separately in males and …

Prevention And Management Of Posterior Wound Complications Following Oncologic Spine Surgery: Narrative Review Of Available Evidence And Proposed Clinical Decision-Making Algorithm, Owen P Leary, Matthew L Goodwin, Et Al.

2020-Current year OA Pubs

STUDY DESIGN: Narrative Review.

OBJECTIVE: Contextualized by a narrative review of recent literature, we propose a wound complication prevention and management algorithm for spinal oncology patients. We highlight available strategies and motivate future research to identify optimal and individualized wound management for this population.

METHODS: We conducted a search of recent studies (2010-2022) using relevant keywords to identify primary literature in support of current strategies for wound complication prevention and management following spine tumor surgery. When primary literature specific to spine tumor cases was not available, data were extrapolated from studies of other spine surgery populations. Results were compiled into …