Digital Commons Network^™

Lyplal1 Rare Loss-Of-Function Variants In Humans And Deletion In Human Hepatoma Cells Protect Against Masld, Rawdat Hussain, Chinmay Raut, Ponnandy Prabhu, Akram Irshaid, Yash Hegde, Yue Chen, Asmita Pant, Antonino Oliveri, Xiaochao Wei, Lishi Yin, Tiffany L Russell, Brian Halligan, Clay F Semenkovich, Elizabeth K Speliotes

2020-Current year OA Pubs

Genetic variants near LYPLAL1 are associated with Metabolic dysfunction-Associated Steatotic Liver Disease (MASLD) in humans, but their impact on LYPLAL1 function is unknown. We identified LYPLAL1 loss-of-function variants from UK BioBank (UKBB) whole-exome sequencing data that had AlphaMissense or GPN-MSA scores in the top 20% of LYPLAL1 variants for being disruptive. We aggregated these variants and carried out burden analysis for effects on MRI Proton Density-Fat Fraction (MRI-PDFF) and ICD-based MASLD in UKBB. Rare loss-of-function LYPLAL1 variants were associated with reduced MRI-PDFF and ICD diagnosed MASLD across sexes. We used CRISPR to knockout and overexpress LYPLAL1 in human hepatoma cells …

Alterations In Ascending Aortic Hemodynamics And Aortic Length Correlate With Sex-Specific Thoracic Aortic Aneurysm Dilation And Lifespan In A Mouse Model Of Severe Marfan Syndrome, Krashn Kr Dwivedi, Yufan Wu, Marisa S Bazzi, Hadi Wiputra, Jacob Rother, James D Quirk, Victor H Barocas, Jessica E Wagenseil

2020-Current year OA Pubs

Thoracic aortic aneurysm (TAA) is a dilation of the aorta that may eventually dissect and/or rupture. It is associated with genetic disorders such as Marfan syndrome (MFS) and is a life-threatening cardiovascular condition if left untreated. Current clinical guidelines for TAA management are primarily based on maximum diameter thresholds that are often inadequate, particularly in MFS patients. Moreover, the diameter thresholds are not sex-specific, despite growing evidence that TAA outcomes in MFS are influenced by sex. The aim of this study was to identify non-invasive biomarkers for better management of TAA using male and female mice that are a genetic …

Promoting Community And Social Participation In Chronic Stroke: A Pilot Study Of The Engage Intervention, Elizabeth Skidmore, Carolyn Baum, Jessica Kersey, Emily Kringle, Kelsey Voltz-Poremba, Sular Gordon, Tina Harris, Heidi Fischer, Maureen Gecht, Michelle Furman, Joy Hammel

2020-Current year OA Pubs

BACKGROUND: Survivors of stroke report low levels of community and social participation, even years after stroke. ENGAGE is a community-based intervention that merges social learning, guided problem solving, and supervised practice to collaboratively identify, generate, and apply solutions to challenges with community and social participation after stroke.

OBJECTIVE: We examined the feasibility, acceptability, and safety of ENGAGE and characterized within group changes in community and social participation outcomes.

METHODS: Community-dwelling survivors of stroke, occupational therapy providers, and occupational therapy scientists partnered to co-design the essential and structural elements of ENGAGE, as well as to evaluate ENGAGE using a multi-site single-arm …

De Novo Heterozygous Variants Of The Rsf1 Gene Are Responsible For A Syndromic Neurodevelopmental Disorder, Céline Jost, Daniel Wegner, Marwan Shinawi, Kathleen Sisco, Alexander J Paul, Et Al.

2020-Current year OA Pubs

Neurodevelopmental disorders (NDD) are a wide and heterogenous group of conditions due to impaired brain development, orchestrated by the crosstalk between genome and environment. Dynamic chromatin regulation during cortical development is fundamental, and chromatin remodelers are critical determinants of this process. Recently, numerous chromatin remodeling genes have been implicated in NDDs. By altering genes' epigenetic state, mutated chromatin remodelers disrupt the spatiotemporal regulation of gene expression during development, potentially leading to severe consequences. The Remodeling and Spacing Factor 1 (RSF1) gene encodes a ubiquitous nuclear protein involved in chromatin remodeling, crucial for processes such as DNA transcription, replication, and repair. …

Sialidosis Type I: How To Alleviate Disabling Myoclonic Seizures? - A Multicenter Analysis Of Eight Cases And Review Of The Literature, Janina Gburek-Augustat, Shao Ching Tu, Marwan Shinawi, Isabel Alfradique-Dunham, Manouela Valtcheva, Et Al.

2020-Current year OA Pubs

OBJECTIVE: Sialidosis type I (ST-1) is an autosomal-recessive, very rare, progressive lysosomal storage disorder caused by pathogenic variants in NEU1. It is clinically characterized by progressive ataxia, myoclonic seizures (MS), bilateral tonic-clonic seizures (BTCS), and distinctive ophthalmological findings. Given the lack of curative options, in this study, we investigated symptomatic treatment strategies, with a particular focus on the efficacy of antiseizure medications (ASMs).

METHODS: We describe the clinical course of a patient followed from diagnosis to 18 years of age, and review seven additional cases from our cohort. In parallel, we conducted a narrative review of the literature (PubMed, January …

Neuropsychiatric Symptoms Mimicking Dementia In A Patient Treated With Imatinib, Ashley Jones, Samuele Bonomi, Keith E Stockerl-Goldstein, Randall J Bateman

2020-Current year OA Pubs

Tyrosine kinase inhibitors are the cornerstone of chronic myeloid leukemia treatment. Newer agents have more potency and a broader spectrum of action, but also a higher potential for neuropsychiatric side effects. We present a case of a patient on imatinib who developed progressive cognitive, mood, and behavioral alterations. He was investigated for dementia and psychiatric disorders but ultimately improved only after discontinuing imatinib. His decompensation years after therapy start, followed by complete and rapid remission, is atypical. We also review the most recent neurobiological findings on the role of tyrosine kinase alterations in dementia and their importance for mood regulation.

Apoe-Stratified Proteomic And Metabolomic Analysis Reveals Mitochondrial Dysfunction Inflammation And Lipid Dysregulation In Alzheimer's Disease, Fuhai Li, Yike Chen, Daniel Western, Muhammad Ali, Menghan Liu, Katherine Gong, Ying Xu, Joseph Lowery, David M Holtzman, Carlos Cruchaga, Et Al.

2020-Current year OA Pubs

Apolipoprotein E (APOE) ε4 is the strongest genetic risk factor for Alzheimer's disease (AD). However, it is known that other pathways independent of APOE also play a role in AD. Disentangling APOE-dependent and independent effects is instrumental for understanding the biology of AD. We conducted an APOE-stratified multi-omic analysis in multiple large datasets to identify AD-associated plasma proteins and metabolites. More than 64% of the identified proteins were not found in non-APOE stratified studies, and 17% of the proteins showed APOE-specific trends. Mitochondrial dysfunction was associated in AD independently of APOE and was accompanied by disruptions in glucose and lipid …

The Femoral Head Edema Zone: A Novel Classification Scheme To Better Predict Osteonecrosis Progression, Deniz C Ince, Vivek P Shah, Kenichi Kikuchi, Kyle P O'Connor, Elizabeth L Yanik, John C Clohisy, Cecilia Pascual-Garrido

2020-Current year OA Pubs

BACKGROUND: This study proposed a new classification, the Edema Zone classification, that uses magnetic resonance imaging images to grade the extent of edema in osteonecrosis of the femoral head. The purpose of the study was (1) to examine how the Edema Zone classification compared to the Japanese Investigation Committee (JIC) classification's prognostic ability for early conversion to total hip arthroplasty (THA), and (2) to determine how accurately and reliably the Edema Zone classification performed as a classification system.

METHODS: This was a retrospective study of hips that converted to THA from a core decompression within 26 months compared to hips …

Developing A Novel Index For Neighborhood Social Determinants Of Cardiovascular Diseases In The Cardia Study, Tao Gao, Yinan Zheng, Brian T Joyce, Lei Liu, Lili Liu, Catarina Kiefe, Sarah Forrester, Penny Gordon-Larsen, Chunyu Liu, Donald Lloyd-Jones, Kai Zhang, Lifang Hou

2020-Current year OA Pubs

Neighborhood social determinants of health have been shown to influence cardiovascular risk and the development of cardiovascular disease, but few studies have been done about early-life exposure as well as the combined effect of multiple neighborhood social determinants of health measures. Each 1-standard-deviation increase in the neighborhood social determinants of health index is associated with increased risk of coronary artery calcification at the year 7, year 15, and year 20 visits (Odds Ratios range from 1.15 to 1.17). The area under the Receiver Operating Characteristics curve ranges between 0.718 (year 7) and 0.719 (year 20). Compared to White participants, Black …

Free Versus In Situ Right Internal Mammary Artery As A Conduit In Coronary Artery Bypass Surgery: A Meta-Analysis, Yuta Kikuchi, Tomoki Sakata, Tomonari Shimoda, Shinichi Fukuhara, Junichi Shimamura, Makoto Hibino, Tsuyoshi Kaneko, Hiroo Takayama, Hisato Takagi, Michel Pompeu Sa, Toshiki Kuno

Department of Medicine Faculty Papers

OBJECTIVES: There is debate regarding the optimal choice for a second conduit in coronary artery bypass grafting. The right internal mammary artery (RIMA) is commonly employed as a second conduit; however, it is unclear whether the free (fRIMA) or in situ (isRIMA) configuration yields superior outcomes. We performed a systematic review and meta-analysis to compare clinical outcomes between fRIMA and isRIMA as the second conduit.

METHODS: A comprehensive search of PubMed (MEDLINE), EMBASE, and CENTRAL was performed through May 2025 to identify studies comparing outcomes in patients undergoing coronary artery bypass grafting with either fRIMA or isRIMA as a second …

Ketone Body Supplementation Exerts Renoprotective Effects Against Adenine-Induced Kidney Injury Via Oxct1-Mediated Ketolysis In Mice, Shoji Omachi, Sho Sugahara, Junya Horiguchi, Mako Yasuda-Yamahara, Shogo Kuwagata, Kosuke Yamahara, Yuki Tanaka-Sasaki, Shogo Ida, Tetsuro Kusaba, Benjamin D Humphreys, Kenji Kufukihara, Jin Nakahara, Masami Chin-Kanasaki, Shinji Kume

2020-Current year OA Pubs

Ketone bodies have traditionally been recognized as glucose-sparing energy sources, with hepatic ketogenesis and peripheral ketolysis serving pivotal functions in maintaining energy homeostasis during fasting. Although they are commonly seen as harmful due to their link with ketoacidosis, recent studies emphasize their roles in organ protection. This has sparked interest in their possible use as a treatment for chronic kidney disease (CKD). In this study, we examined both exogenous and endogenous ketone body supplementation in adenine-induced kidney injury in mice. Supplementation with the ketone body precursor 1,3-butanediol significantly improved adenine-induced renal fibrosis, inflammation, and apoptotic cell death. However, genetically deleting …

Post-Hemorrhagic Hydrocephalus Of Prematurity Is Associated With Disruption Of Tight Junctions And Increased Macrophage Activity In The Choroid Plexus, Maria Garcia-Bonilla, Rajiv Swarup, Owen W Limbrick, Habeebah Z Vohra, Ayodamola Otun, Konrad Mckalip, William Bernhardt, Kirill Shumilov, Marie Michenkova, Jayne Crouthamel, Mackenzie Newman, Krikor Dikranian, James P Mcallister Ii, David D Limbrick

2020-Current year OA Pubs

BACKGROUND: Previous studies on intraventricular hemorrhage (IVH), a common and severe complication of preterm birth, and subsequent post-hemorrhagic hydrocephalus (PHH), have predominantly concentrated on the secretory function of the choroid plexus (ChP), with considerably less emphasis on its barrier function. We hypothesized that PHH is associated with immune-related alterations in the junction biology of ChP. METHODS: We examined differences in tight junctions and macrophages using a neonatal mouse model of PHH (n = 40) and in vitro ChP explants (n = 22), as well as human post-mortem samples (n = 6). To test our hypothesis, we employed histology, immunofluorescence, magnetic …

Provider And Caregiver Perspectives On Vision Services For Childhood Cancer Survivors: A Qualitative Study, Asha Parvathaneni, Luke Zabotka, Jacob Strelnikov, Allison J L'Hotta, Matthew J Ehrhardt, Maria Montoya, Kyathi Thallapureddy, Robert J Hayashi, Margaret Reynolds, Sara Malone

2020-Current year OA Pubs

PURPOSE: This study qualitatively explored barriers and facilitators to accessing supportive vision services for childhood cancer survivors with vision deficits and identified current service-delivery contexts from the perspectives of community professionals and caregivers. METHODS: Participants included caregivers and professionals who completed semi-structured interviews. Provider questions focused on patient identification and assessment, follow-up protocols, and available resources, while caregiver questions addressed navigating survivorship care, academic needs, and goals for their children. Transcripts were thematically analyzed following inductive and deductive coding. RESULTS: Six caregivers and 10 professionals completed interviews. Thematic analysis resulted in three contexts for barriers and facilitators: school settings, community …

Pathogenic Variants In The Cohesin Loader Subunit Mau2 Underlie A Distinct Cornelia De Lange Syndrome Subtype., Ilaria Parenti, Alina Hesters, Marta Gil-Salvador, Laura Duffy, Deniz Kanber, Jasmin Beygo, Jennifer Kerkhof, Laura Steenpaß, Elsa Leitão, Julia Woestefeld, Philip M. Boone, Emeline M. Kao, Lama Alabdi, Hesham M. Aldhalaan, Fowzan S. Alkuraya, Muneera J. Alshammari, Stylianos E. Antonarakis, Donald Basel, Kevin Cassinari, Laurana De Polli Cellin, Amanda R. Clause, Alexander Augusto De Lima Jorge, Andréa De Castro Leal, Stephan C. Collins, Benjamin Durand, Juliane Eckhold, Mais O. Hashem, Parul Jayakar, Arif O. Khan, Kohji Kato, Regina Kubica, Gholson J. Lyon, Elaine Marchi, Julie Mccarrier, Lara K. Kimmig, Seiji Mizuno, Gael Nicolas, Yosuke Nishio, Tomoo Ogi, Juan Pié, Jordyn Prell, Beatriz Puisac, Feliciano J. Ramos, Emmanuelle Ranza, Claire Redin, Eric T. Rush, Shinji Saitoh, Hanan E. Shamseldin, Susan Starling, Esteban Astiazaran-Symonds, Sara H. Eltahir, Alma Kuechler, Bekim Sadikovic, Binnaz Yalcin, Kerstin S. Wendt, Frank J. Kaiser

Manuscripts, Articles, Book Chapters and Other Papers

The role of the cohesin complex depends on the cohesin loader proteins NIPBL and MAU2. While NIPBL variants are a major cause of Cornelia de Lange Syndrome (CdLS), the role of MAU2 in disease is unclear. We describe 18 individuals carrying 15 heterozygous MAU2 variants and demonstrate pathogenicity through functional analyses. In-frame MAU2 variants predominantly impair NIPBL-MAU2 interaction, whereas truncating variants cause MAU2 haploinsufficiency and lead to NIPBL reduction. Most individuals exhibit a DNA methylation profile compatible with the CdLS episignature. We also describe two MAU2-specific episignatures that reflect variant-dependent molecular consequences. Affected individuals display a wide range of phenotypes, …

Physical Rehabilitation For Older Patients With Acute Hfpef (Rehab-Hfpef) Trial: Design And Rationale, Amy M. Pastva, Gordon R. Reeves, David J. Whellan, Robert J. Mentz, Haiying Chen, Alain G. Bertoni, Pamela W. Duncan, Mark A. Espeland, Shelby D. Reed, M. Benjamin Nelson, Christopher M. O'Connor, Dalane W. Kitzman

Department of Medicine Faculty Papers

RATIONALE: Older patients hospitalized for acute decompensated heart failure with preserved ejection fraction (HFpEF) experience persistently poor outcomes, including physical disability, cognitive impairment, depression, impaired health-related quality of life (HRQOL), rehospitalizations, loss of independence, and mortality. In our previous phase 2 REHAB-HF trial, an innovative physical rehabilitation intervention, delivered across three phases-inpatient, 12-week outpatient, and 3-month home-based maintenance-produced large improvements in physical function and HRQOL, with signals of reduced clinical events among patients with acute HFpEF. These findings provide a compelling rationale for a definitive, event-powered trial to evaluate clinical outcomes.

HYPOTHESIS: Targeting physical frailty and multisystem functional impairments using …

Cilia Dynamics In Primary Ciliary Dyskinesia: A Biophysical Characterization Of The Rsph4a Founder Variant, Gabriel Rosario-Ortiz, José Muñiz-Hernández, Natalia M Ortiz-Pérez, Marcos J Ramos-Benitez, Ricardo A Mosquera, Wilfredo De Jesús-Rojas

Faculty, Staff and Student Publications

Primary ciliary dyskinesia (PCD) is a rare ciliopathy resulting in chronic oto-sino-pulmonary disease. PCD diagnosis can be achieved by a combination of different diagnostic and adjuvant tools, including high-speed video-microscopy analysis (HSVA). A founder variant has been described in Puerto Rico as the most common cause of PCD in the island. Background/Objectives: In HSVA, objective parameters such as ciliary beat frequency (CBF) and subjective parameters such as ciliary beat pattern (CBP) shed light on the biophysical properties of cilia. However, the subjective nature of CBP creates a gap in knowledge; characteristics such as the length, angle, and bending index of …

Associations Between Caregiver-Provider Communication Quality And Unmet Care Needs Among Older Adults, Jiaming Liang, Rafael Samper-Ternent, Brian Downer, Zhigang Xie

Faculty, Staff and Student Publications

BACKGROUND: Unmet care needs (lack of assistance with daily activities) among older adults are common and linked to adverse health outcomes, greater healthcare utilization, and caregiver burden. While effective patient-provider communication is known to improve care quality, less is understood about the role of caregiver-provider communication, particularly across sociodemographic, health, and caregiving contexts. METHODS: We conducted a cross-sectional secondary analysis of pooled 2021–2023 National Health and Aging Trends Study (NHATS) and National Study of Caregiving (NSOC) data, restricted to community-dwelling older adults (65 + years) who received assistance from caregivers due to difficulty with daily activities, and had at least …

Social Isolation And Firearm Secure Storage In The Usa: Results From The 2022 Brfss, Alexander Testa, Daniel Semenza, Dylan B Jackson, Karyn Fu, Sandra Mckay, Kyle T Ganson, Jason M Nagata, Jack Tsai

Faculty, Staff and Student Publications

Background: Firearm secure storage (ie, storing firearms unloaded and locked) is recommended to reduce unintentional injuries and suicides. However, the relationship between psychological states, such as social isolation, and firearm secure storage practices is under-researched.

Methods: Data are from 7136 individuals with firearms in their households from the 2022 Behavioral Risk Factor Surveillance System. Multinomial logistic regression was used to explore the relationship between social isolation and firearm storage.

Results: Among respondents, 71.6% reported storing firearms unloaded, 14.2% stored firearms loaded and locked and 14.2% stored firearms loaded and unlocked. Most respondents reported feeling 'never' (40.7%) or 'rarely' (33.3%) socially …

Energetic Diversity In Retinal Ganglion Cells Is Modulated By Neuronal Activity And Correlates With Resilience To Degeneration, Zelun Wang, Christopher Zhao, Shelly Xu, Minglei Zhao, Sean Mccracken, Rajendra S Apte, Philip R Williams

2020-Current year OA Pubs

Neuronal function requires high energy expenditure that is likely customized to meet specific signaling demands. However, little is known about diversity of metabolic homeostasis among divergently-functioning types of neurons. To this end, we examined retinal ganglion cells (RGCs), a population of closely related, yet electrophysiologically distinct excitatory projection neurons. Using in vivo 2-photon imaging to measure ATP with single cell resolution, we identified differential homeostatic energy maintenance in the RGC population that correspond to distinct RGC types. In the presence of circuit activity, the most active RGC type (Alpha RGCs), had lower homeostatic ATP levels than other types and exhibited …

Impact Of Who Aware Antibiotic Handbook Training On Antibiotics Prescribing Knowledge Among Private Primary Care Providers: A Vignette-Based, Prep-Post Pilot Study In Patna, India, Poshan Thapa, Prachi Shukla, Chandrashekhar Joshi, Sena Sayood, Pradeep Kumar Sinha, Diwash Timilsina, Mili Dutta, Madhukar Pai, Samira Abbasgholizadeh Rahimi, Sumanth Gandra

2020-Current year OA Pubs

INTRODUCTION: Inappropriate antibiotic prescribing is a major concern in low- and middle-income countries (LMICs), particularly at the primary care level. The WHO AWaRe Antibiotic Handbook was introduced to promote rational antibiotic use, yet its real-world feasibility and potential impact remain underexplored. Our study evaluated the impact and usefulness of the WHO AWaRe Handbook training among private primary care providers (PCPs) in Patna, India.

METHODS: We conducted a pre-post pilot study among 145 private PCPs (40 formal PCPs (FPs) and 105 informal PCPs (IPs) in Patna, India. Participants received training from an infectious disease physician on the WHO AWaRe Antibiotic Handbook. …

A Scoping Review Of Gender-Based Violence Interventions Conducted In Afghanistan, Wahiba Abu-Ras, Basil H. Aboul-Enein, Patricia J. Kelly, Dilshod Achilov

College of Nursing Faculty Papers & Presentations

BACKGROUND: Gender-based violence (GBV) remains one of the most pervasive human rights and public health challenges worldwide, with disproportionate impacts on women and girls in conflict-affected and fragile states. Afghanistan represents one of the most restrictive environments for women's rights, where structural, cultural, and political barriers severely limit the implementation and evaluation of GBV-prevention programs. This scoping review aims to identify and critically appraise GBV prevention and response interventions implemented in Afghanistan and assess their contribution to advancing gender and health equity.

METHODS: Following PRISMA-ScR guidelines and the PICOS framework, nine databases were systematically searched for studies published between 2010 …

Fasting-Based Dietary Interventions In Cancer Patients And Survivors: A Scoping Review, Kuang-Yi Wen, Julianne Freedman, Abenezer Melaku Tafese, William Kevin Kelly, Nicole L Simone

Department of Medical Oncology Faculty Papers

Background: Fasting-based interventions are increasingly investigated as adjuncts to cancer treatment for the potential to reduce therapy-related toxicities, improve metabolic health, and enhance quality of life. However, clinical evidence regarding their efficacy, tolerability, and acceptability remains limited and fragmented. This scoping review aimed to systematically map the current evidence on fasting-based interventions in cancer patients and survivors.

Methods: A literature search was conducted in PubMed, Scopus, Web of Science, and CINAHL up to 10 June 2025. Eligible interventional studies included cancer patients or survivors and evaluated fasting-based interventions, such as time-restricted eating, intermittent fasting, short-term fasting, or fasting-mimicking …

Randomized Controlled Trial Outcomes For Homestyles-2, An Online Obesity Prevention Program For Families With Children In Middle Childhood, Carol Byrd-Bredbenner, Angelica A. Pozzoli, Kaitlyn M. Eck, John Worobey, Karla Pagan Shelnutt, Melissa D. Olfert, Virginia Quick

College of Health Professions Faculty Papers

Background: Parents are children’s primary role models, are food and physical activity gatekeepers, and create the home structure/lifestyle environment. Thus, parents strongly influence children’s weight-related behaviors and have the opportunity to cultivate a “culture of health” within the home. Methods: The aim of the HomeStyles-2 (also called HomeStyles-Child) RCT was to determine whether this online, novel, age-appropriate, family intervention enabled and motivated the 131 systematically randomly assigned by computer parents of children in middle childhood (ages 6 to 11) in the experimental condition to shape home environments and healthy weight-related lifestyle practices to be more supportive of optimal health and …

Cystic Fibrosis And Sickle Cell Disease Associated With Nonadministration Of Vte Prophylaxis In Hospitalized Adults, Kiera Caparon, Matthew J. Lankiewicz, Jessica Crow, Jennifer C. Yui, John Lindsley, Brandyn D. Lau, Michael B. Streiff, Rakhi P. Naik, Sophie Lanzkron, Lydia H. Pecker, Peggy Kraus, Elliott R. Haut, Jiangxia Wang, Kathryn E. Dane

Cardeza Foundation for Hematologic Research

Cystic fibrosis (CF) and sickle cell disease (SCD) are associated with an increased risk of venous thromboembolism (VTE), and this risk is exacerbated by hospitalization. VTE prophylaxis nonadministration is a VTE risk factor. The objective of this study was to characterize VTE prophylaxis nonadministration among patients with either CF or SCD compared with medically ill patients without CF or SCD. We conducted a single-center retrospective cohort study of hospitalized patients who were prescribed at least 2 doses of pharmacologic VTE prophylaxis. The primary outcome was the proportion of nonadministered VTE prophylaxis doses by cohort. Multivariable logistic regression was used to …

Perceived Partner Substance Use, Genetic Predispositions, And Their Associations With Problematic Alcohol Use, Emotional Well-Being, And Relationship Quality, Megan E Cooke, Kathleen K Bucholz, Vivia V. Mccutcheon, Et Al.

2020-Current year OA Pubs

BACKGROUND: Romantic relationships are important contexts for substance use and emotional well-being. We tested the hypotheses that (i) genetic predispositions for alcohol consumption would be positively associated with partner substance use, (ii) partner substance use would moderate genetic influences on one's own alcohol outcomes, and (iii) partner discordance in substance use would be associated with lower emotional well-being and relationship quality.

METHODS: Analyses included 2,357 participants (M

RESULTS: Participant PGS

CONCLUSIONS: The results highlight the importance of partner substance use in etiological models of alcohol use, emotional health outcomes, and relationship quality.

Clinical Characteristics, Management, And Hematopoietic Cell Transplantation Of Patients With Tlr8 Gain-Of-Function, Danielle E Arnold, Jahnavi Aluri, Sarah S Mehta, Joshua M Tobin, Laura G Schuettpelz, Nermina Saucier, Elizabeth G Schmitz, Jeffrey J Bednarski, Megan A Cooper, Et Al.

2020-Current year OA Pubs

Toll-like receptor 8 (TLR8) gain-of-function (GOF) somatic variants were recently identified as causing severe neutropenia, lymphoproliferation, and immune dysregulation. We report the expanded clinical and laboratory phenotype and management of 10 patients, including the original cohort of 6 male patients. We identify the first female patient with TLR8 GOF who presented during infancy with pure red cell aplasia due to a germ line TLR8 variant, and 2 new disease-causing somatic variants in male patients. Eight patients had somatic mosaicism with peripheral blood variant allele fractions of 7% to 26%, and age of disease onset of 9 months to 28 years. …

Molecular Characterization Of Humanized Apoe Mouse Models Reveals Source And Genotype Dependent Differences, Na Wang, David M Holtzman, Et Al.

2020-Current year OA Pubs

BACKGROUND: Humanized APOE targeted-replacement (TR) mice are essential tools for studying apoE isoform effects in Alzheimer’s disease (AD) and other apoE-related disorders. Despite their widespread use, existing APOE mouse models, generated with different gene targeting strategies, have not been directly compared in terms of apoE isoform expression, lipid profiles, and transcriptomic signatures. Such differences could impact how we interpret APOE genotype-related outcomes, as well as related underlying molecular mechanisms. METHODS: We conducted a comprehensive molecular comparison of humanized APOE mouse models from three sources: Taconic Biosciences (TAC), the Cure Alzheimer’s Fund (CAF), and The Jackson Laboratory (JAX). We assessed apoE …

Association Between Charcoal Cooking Fuel And Cardiovascular Disease Prevalence In Haiti: A Cross-Sectional Analysis, Lily D Yan, Mark D Huffman, Et Al.

2020-Current year OA Pubs

BACKGROUND: There is little evidence on the association between cooking with polluting fuels, particularly charcoal, and heart disease from low- and middle-income countries, which have the highest burdens of polluting fuels and cardiovascular disease (CVD). We sought to assess the relationship between self-reported primary home cooking with charcoal and prevalent cardiovascular disease in the low-income country Haiti. METHODS: Demographic and clinical data were collected from 3,005 adults in the Haiti Cardiovascular Disease Cohort, recruited from Port-au-Prince using multistage random sampling from 2019 to 2021. Primary cooking fuel was self-reported in the household: charcoal orliquified petroleum gas (LPG). Prevalent CVD (heart …

Associations Between Reported Use Of Nutritional Labels And Calorie Intake In Us Adults: Findings From Nhanes 2017–2020, Ariana M. Chao, Nancy Greene, Alexandra Paul, Paule V. Joseph

College of Nursing Faculty Papers & Presentations

Objective: Caloric information is commonly displayed on nutritional fact labels and food menus. Yet evidence is limited on whether label use is associated with a reduced-calorie diet. This study examined the associations between the use of caloric information on nutritional facts and menu labels and daily caloric intake. Methods: We used data from adults in the National Health and Nutrition Examination Survey (NHANES) 2017–2020 to conduct a cross-sectional study. Calorie label use on nutritional labels and menus was assessed using the Flexible Consumer Behavior Survey telephone interview. Caloric intake was evaluated using the mean of two 24-h diet recalls implemented …

Eligibility For Amyloid Targeting Therapies Among Primary Care Patients With Cognitive Symptoms, Beata Borgström Bolmsjö, Josef Barbosa Djärf, Danielle Van Westen, Suzanne E Schindler, Ayesha Fawad, Lyduine Collij, Ruben Smith, Niklas Mattsson-Carlgren, Erik Stomrud, Pontus Tideman, Oskar Hansson, Sebastian Palmqvist

2020-Current year OA Pubs

BACKGROUND: Alzheimer’s disease (AD) is the most common cause of dementia and a growing healthcare challenge. Amyloid-targeting therapies (ATT) may slow progression, but implementation is limited by logistical and economic barriers. As primary care is the first contact for most patients with cognitive concerns, quantifying treatment eligibility in this setting is essential. The purpose of this study was to estimate the proportion of primary care patients presenting with cognitive symptoms who are eligible for ATT. METHODS: This cohort study included patients presenting with cognitive symptoms in primary care across the region Skåne, in southern Sweden, recruited between January 2020 and …