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Assessment and ascertainment in psychiatric molecular genetics: challenges and opportunities for cross-disorder research
No full textPsychiatric disorders are highly comorbid, heritable, and genetically correlated [1-4]. The primary objective of cross-disorder psychiatric genetics research is to identify and characterize both the shared genetic factors that contribute to convergent disease etiologies and the unique genetic factors that distinguish between disorders [4, 5]. This information can illuminate the biological mechanisms underlying comorbid presentations of psychopathology, improve nosology and prediction of illness risk and trajectories, and aid the development of more effective and targeted interventions. In this review we discuss how estimates of comorbidity and identification of shared genetic loci between disorders can be influenced by how disorders are measured (phenotypic assessment) and the inclusion or exclusion criteria in individual genetic studies (sample ascertainment). Specifically, the depth of measurement, source of diagnosis, and time frame of disease trajectory have major implications for the clinical validity of the assessed phenotypes. Further, biases introduced in the ascertainment of both cases and controls can inflate or reduce estimates of genetic correlations. The impact of these design choices may have important implications for large meta-analyses of cohorts from diverse populations that use different forms of assessment and inclusion criteria, and subsequent cross-disorder analyses thereof. We review how assessment and ascertainment affect genetic findings in both univariate and multivariate analyses and conclude with recommendations for addressing them in future research
Nucleus accumbens functional connectivity changes underlying alcohol expectancies in bipolar disorder and prospective alcohol outcomes: a within-subject randomized placebo-controlled alcohol administration fMRI study
No full textIntroduction: Alcohol use disorder (AUD) occurs at higher rates in individuals with bipolar disorder compared to the general population. A paucity of data are available on specific mechanisms that may contribute to bipolar and AUD co-occurrence. We recently reported differences in alcohol expectancies and placebo response during alcohol administration in early-stage bipolar disorder, compared to healthy young adults. This current report investigated subjective and neural response following placebo beverage consumption in young adults with bipolar disorder.
Methods: As part of a within-subject placebo-controlled alcohol administration study, 54 young adults (53% with bipolar disorder type I, age mean + SD = 23 + 2 years, 64% female) completed resting state functional MRI (rsfMRI) scans at baseline (pre-beverage) and following placebo and alcohol consumption (counter-balanced). Participants completed subjective response measures during placebo and alcohol beverage conditions. Between-group differences in subjective response and placebo-related changes in functional connectivity of the Nucleus Accumbens (NAc) with other brain regions, compared to a pre-beverage rsfMRI baseline condition, were investigated. Fisher-transformed correlation coefficients between ROIs and seed-to-clusters showing a significant group-by-condition (placebo, pre-beverage rsfMRI) interaction were calculated. Associations with prospective alcohol use and problems were explored in a subgroup with longitudinal data.
Results: Young adults with bipolar disorder reported greater intoxication during the placebo condition, compared to healthy young adults (main effects of group: p < 0.05). Compared to pre-beverage rsfMRI, the placebo condition related to increased connectivity between bilateral NAc and regions within the sensorimotor network in bipolar disorder. Comparison participants showed the opposite pattern of placebo-related changes in connectivity (group-by-condition, p-FDR < 0.05). Greater anxiolytic effects endorsed during placebo and associated increases in NAc functional connectivity related to greater alcohol use and alcohol problems at follow-up in bipolar disorder (p < 0.05).
Discussion: Results suggest differences in placebo response in bipolar disorder, including distinct neural correlates, that may relate to prospective alcohol use/problems. Given the theoretical association between placebo response and self-reported alcohol expectancies, findings could open the door to interventions aimed at changing expectancies
Regional Disparities in the Social Determinants of Stroke Severity
No full textSocial determinants of health (SDOH) are known factors of stroke risk and outcomes. We aim to gain a comprehensive understanding of the impact of stroke risk-specific SDOH on stroke severity by investigating the patient population served by a regional healthcare system. We conducted a retrospective bivariate analysis of data from patients’ American Heart Association Get With The Guidelines–Stroke (AHA GWTG-S) Case Record Forms collected at three stroke centers between January 2022 and May 2024. We compared the patient ordinal modified Rankin Scale (mRS) and the National Institutes of Health Stroke Scale (NIHSS) scores to the predictor variables of age, sex, race, Hispanic ethnicity, ZIP code, payment sources, and mode of arrival. When age-adjusted, Black or African American patients had higher mean NIHSS scores and higher rates of Minor Stroke Symptoms than White patients (p<0.01, p<0.01). ZIP Codes with higher mean NIHSS stroke scale scores correlated significantly with ZIP Codes defined by lower median household income (r=-0.61, p<0.01), lower education attainment (r=-0.71, p<0.001), and higher percentages of minority group populations (r=0.50, p<0.02). Patients with higher mean scores across all measures were those associated with using Medicare versus private insurance (p<0.0001) and those arriving at the hospital via EMS versus private transport (p<0.01). This research addresses the significance of surveying region-specific social determinants of health for insight into targeted interventions. Initiatives such as expanding stroke awareness education and increasing preventative screenings in the community may reduce disparities in stroke severity and improve outcomes in underserved areas.This Indiana University Medical Student Program for Research and Scholarship (IMPRS) project was funded, in part, with support from the Indiana Clinical and Translational Sciences Institute Grant funded, in part by UL1TR002529 from the National Institutes of Health
Childhood Cancer Awareness Program in Bungoma County, Kenya
No full textBackground: Awareness could play a key role in reducing underdiagnosis and accelerating referral of childhood cancer in low- and middle-income countries and ultimately improve outcomes. This study describes the implementation of a childhood cancer awareness program in Bungoma County in Kenya, containing five components: (1) baseline data collection of primary healthcare facilities; (2) live training session for healthcare providers (HCP); (3) early warning signs posters; (4) online SMS course for HCP; and (5) radio campaign.
Methods: This study was conducted between January and June 2023. All 144 primary healthcare facilities (level 2 and 3 health facilities) within Bungoma County were visited by the field team.
Results: All 125 level 2 (87%) and 19 level 3 (13%) facilities participated in the study. National Health Insurance Fund (NHIF) failed to cover services in 37 (26%) facilities. HCP were more often reported absent at level 3 (89%) than level 2 (64%) facilities (P = 0.034). The 144 live training sessions were attended by over 2000 HCP. Distribution of 144 early warning signs posters resulted in 50 phone calls about suspected childhood cancer cases. Sixteen children were later confirmed with childhood cancer and treated. Online SMS learning was completed by 890 HCP. Knowledge mean scores improved between pre-test (7.1) and post-test (8.1; P < 0.001). Finally, 540 radio messages about childhood cancer and a live question-and-answer session were broadcasted.
Conclusion: This study described the implementation of a childhood cancer awareness program in Kenya involving both HCP and the general public. The program improved HCP's knowledge and increased the number of referrals for children with cancer
Frequency and Predictors of Adolescent Worry for School Gun Violence In the United States: Findings from a Nationally Representative Study
No full textPurpose: While school gun violence (SGV) incidents in the United States (U.S.) have risen sharply over the past decade, limited research has examined adolescent worries about SGV. We examined the frequency and correlates of SGV worry in a U.S. nationally representative sample of adolescents.
Methods: Data were from adolescent participants (14-17 years; N = 1017) in the 2022 National Survey of Sexual Health and Behavior, a nationally representative study of sexual health experiences of people in the U.S. SGV worry was a single 5-point item (not at all worried - extremely worried). We used both weighted descriptive statistics to examine SGV frequency and random intercept mixed effects ordinal regression to examine demographic and background impact on SGV worry.
Results: Nearly 75% of adolescents reported some degree of SGV worry; of these, one in five were very or extremely worried. SGV worry was significantly higher for adolescents in younger grades and among racial/ethnic minority youth, as well as for cisgender female and gender minority teens. Adolescents in higher income homes were less worried about SGV. Both teens living in metropolitan locations and teens who reported higher anxiety in the past two weeks noted higher SGV worry.
Conclusions: U.S. adolescents have a substantial level of worry about school gun violence. Structural interventions are needed to reduce SGV itself. Moreover, because there are detrimental long-term impacts of prolonged worry, targeted interventions are important for reaching those who are at greatest worry risk, including lower income, race/ethnic minority and gender minority teens
Improving Early Dementia Detection Among Diverse Older Adults With Cognitive Concerns With the 5-Cog Paradigm: Protocol for a Hybrid Effectiveness-Implementation Clinical Trial
No full textBackground: The 5-Cog paradigm is a 5-minute brief cognitive assessment coupled with a clinical decision support tool designed to improve clinicians' early detection of cognitive impairment, including dementia, in their diverse older primary care patients. The 5-Cog battery uses picture- and symbol-based assessments and a questionnaire. It is low cost, simple, minimizes literacy bias, and is culturally fair. The decision support component of the paradigm helps nudge appropriate care provider response to an abnormal 5-Cog battery.
Objective: The objective of our study is to evaluate the effectiveness, implementation, and cost of the 5-Cog paradigm.
Methods: We will enroll 6600 older patients with cognitive concerns from 22 primary care clinics in the Bronx, New York, and in multiple locations in Indiana for this hybrid type 1 effectiveness-implementation trial. We will analyze the effectiveness of the 5-Cog paradigm to increase the rate of new diagnoses of mild cognitive impairment syndrome or dementia using a pragmatic, cluster randomized clinical trial design. The secondary outcome is the ordering of new tests, treatments, and referrals for cognitive indications within 90 days after the study visit. The 5-Cog's decision support component will be deployed as an electronic medical record feature. We will analyze the 5-Cog's implementation process, context, and outcomes through the Consolidated Framework for Implementation Research using a mixed methods design (surveys and interviews). The study will also examine cost-effectiveness from societal and payer (Medicare) perspectives by estimating the cost per additional dementia diagnosis.
Results: The study is funded by the National Institute of Neurological Disorders and Stroke of the National Institutes of Health (2U01NS105565). The protocol was approved by the Albert Einstein College of Medicine Institutional Review Board in September 2022. A validation study was completed to select cut scores for the 5-Cog battery. Among the 76 patients enrolled, the resulting clinical diagnoses were as follows: dementia in 32 (42%); mild cognitive impairment in 28 (37%); subjective cognitive concerns without objective cognitive impairment in 12 (16%); no cognitive diagnosis assigned in 2 (3%). The mean scores were Picture-Based Memory Impairment Screen 5.8 (SD 2.7), Symbol Match 27.2 (SD 18.2), and Subjective Motoric Cognitive Risk 2.4 (SD 1.7). The cut scores for an abnormal or positive result on the 5-Cog components were as follows: Picture-Based Memory Impairment Screen ≤6 (range 0-8), Symbol Match ≤25 (range 0-65), and Subjective Motoric Cognitive Risk >5 (range 0-7). As of December 2024, a total of 12 clinics had completed the onboarding processes, and 2369 patients had been enrolled.
Conclusions: The findings of this study will facilitate the rapid adaptation and dissemination of this effective and practical clinical tool across diverse primary care clinical settings
So you're new to library publishing... Me too!
No full textA birds of a feather chat at the 2025 Library Publishing Forum for people new to library publishing or new to working in libraries in general. The goal was to connect with fellow newbies and establish communication lines and relationships, share experiences and thoughts, and encourage each other as we move forward in our careers
Equivalence of electronic health record data for measuring hypertension prevalence: a retrospective comparison to BRFSS with data from two Indiana health systems, 2021
No full textBackground: Public health surveillance requires timely access to actionable data at every level. Current approaches for accessing chronic disease surveillance data are not sufficient, and health departments are increasingly looking to augment surveillance efforts using electronic health records (EHRs). While proven effective for acute syndromic surveillance, the utilization of EHR systems and health data networks for monitoring chronic conditions remains sparse. This study tested the generalizability of a previously validated hypertension computable phenotype.
Methods: A previously developed phenotype was used to estimate prevalence of hypertension in a geographically and clinically distinct region from its development. To test validity, the results were compared to available, statewide Behavioral Risk Factor Surveillance System (BRFSS) data using the two one-sided t-test (TOST) of equivalence between BRFSS- and EHR-based prevalence estimates. The TOST was performed at the overall level as well as stratified by age, gender, and race/ethnicity.
Results: Compared to statewide hypertension prevalence of 34.5% in the BRFSS, an EHR-based phenotype estimated an overall prevalence of 24.1%. Estimates were not equivalent overall or across most subpopulations. Like BRFSS, we observed higher prevalence among Black men and women as well as increasing prevalence with age.
Conclusion: With caveats, this study demonstrates that EHR-derived prevalence estimates may serve as a complement for population-based survey estimates. Utilizing available EHR data should increase timeliness of surveillance as well as enhance the ability of states and local health agencies to more readily address the burden of chronic disease in their respective jurisdictions
Covariate and Co-Structural Influences on Human Facial Morphology: Decoding the Structural Blueprint Behind Facial Shape
No full textIUIThe human face is one of the most intricate yet informative structures, serving as a key identifier in forensic investigations, an indicator of medical conditions, and a crucial factor in surgical planning. Over the past few decades, significant effort has been dedicated to understanding the genetic architecture underlying facial morphology. However, this focus often overlooks the substantial influence of covariates, such as biogeographic ancestry, and structural components like the skull. While these factors are acknowledged, their anthropological is frequently reduced to statistical models that bypass anatomical considerations. Furthermore, many of the complex models developed to reconstruct facial shape are not yet practically applicable.
This dissertation addresses these gaps by investigating how regional, rather than just global, biogeographic ancestry influences facial morphology and whether genetic models of biogeographic ancestry align with phenotypic expression. Our findings indicate that broad categorizations such as “European” do not fully capture ancestral variation, yet incorporating too many genetic principal components risks overcorrection. To address this, we introduce a novel standardized, phenotype-based approach using consensus faces.
Additionally, we present a validated, standardized method for efficiently masking and analyzing the human skull using over 6,000 quasi-landmarks. This methodology is further expanded to include a facial mask, where both the skull and face are intrinsically linked through anatomically corresponding quasi-landmarks. This innovation enables the simultaneous study of facial soft tissue thickness (FSTT), cranial shape, and facial morphology in a computationally efficient manner that has not been previously achieved. The use of correspondence masks permits modeling of the relationship between the skull and face, facilitating craniofacial reconstruction and laying the foundation for an open-source FSTT and facial measurement database.
Ultimately, this dissertation explores standardization, global applicability, with the aim of facilitating real-world applications of a scientifically transparent computational approach to facial image projection from skeletal remains. By integrating genetic, anthropological, and statistical approaches, it describes a streamlined methodology that can harness structural knowledge of facial variation to develop practical tools useful in forensic and medical applications. Moreover, it highlights the need for global large-scale collaborative research to further advance this field on both fundamental science and applied levels