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Outcomes After Elective Total Aortic Arch Replacement: Does Obesity Matter?, Vicente Orozco-Sevilla, Michael Tyler Guinn, Ivan Murrieta-Alvarez, Veronica A Glover, Susan Y Green, Subhasis Chatterjee, Scott A Lemaire, Marc R Moon, Joseph S Coselli Jun 2026

Outcomes After Elective Total Aortic Arch Replacement: Does Obesity Matter?, Vicente Orozco-Sevilla, Michael Tyler Guinn, Ivan Murrieta-Alvarez, Veronica A Glover, Susan Y Green, Subhasis Chatterjee, Scott A Lemaire, Marc R Moon, Joseph S Coselli

Faculty, Staff and Students Publications

Objective: Obesity is a chronic disease linked to high mortality and morbidity after cardiac procedures, but its relationship to outcomes after total aortic arch replacement (TAR) remains unclear. We examined TAR data to determine whether obesity is associated with greater perioperative risk.

Methods: Among 787 TARs performed from 1990 to 2023, we excluded patients who lacked body mass index (BMI) data, had nonelective or nonstandard repairs, or were underweight (BMI < 18.5 kg/m2). The remaining 521 patients did not have obesity (18.5 ≤BMI < 30; n = 389) or did (BMI ≥30; n = 132). Patients with obesity were class 1 (30 ≤ BMI < 35), class 2 (35 ≤ BMI < 40), or class 3 (BMI ≥40). We compared preoperative and perioperative variables for BMI ≥30 (obesity) versus BMI < 30. Adverse events were operative mortality, persistent stroke, spinal cord deficit, and renal failure. We performed multivariable logistic regression and Kaplan-Meier survival analysis.

Results: Patients with obesity had greater rates of obstructive sleep apnea, transient spinal cord deficit, and acute renal dysfunction than patients with normal weight. During repair, the use of antegrade …


The American Association For Thoracic Surgery Medical Student Opportunity Scholarship In Its Fifth Year: Are We Making Progress?, Marc R Moon Jun 2026

The American Association For Thoracic Surgery Medical Student Opportunity Scholarship In Its Fifth Year: Are We Making Progress?, Marc R Moon

Faculty, Staff and Students Publications

No abstract provided.


A Trans-Omics Gene-Smoking Interaction Study Of Lung Cancer Based On Consortium Data, Ning Xie, Xiaowen Xu, Yanru Wang, Aoxuan Wang, Xiang Wang, Xuan Wang, Mengsheng Zhao, Jiacheng Zhou, Yongyue Wei, Manel Esteller, Zhibin Hu, Hongbing Shen, Rayjean J Hung, Christopher I Amos, Yi Li, David C Christiani, Feng Chen, Yang Zhao, Ruyang Zhang Jun 2026

A Trans-Omics Gene-Smoking Interaction Study Of Lung Cancer Based On Consortium Data, Ning Xie, Xiaowen Xu, Yanru Wang, Aoxuan Wang, Xiang Wang, Xuan Wang, Mengsheng Zhao, Jiacheng Zhou, Yongyue Wei, Manel Esteller, Zhibin Hu, Hongbing Shen, Rayjean J Hung, Christopher I Amos, Yi Li, David C Christiani, Feng Chen, Yang Zhao, Ruyang Zhang

Faculty, Staff and Students Publications

Rationale: Genetically predicted molecular traits provide a cost-effective approach for identifying biomarkers and uncovering underlying biological mechanisms. We extended this framework to investigate gene-smoking interactions in lung cancer susceptibility.

Objectives: To identify trans-omics gene-smoking interactions affecting lung cancer risk and to assess how biomarkers modify effect of smoking.

Methods: We conducted the first trans-omics gene-smoking interaction study of lung cancer by integrating consortium-scale individual genotype data (27 737 cases vs 449 910 noncases) from the International Lung Cancer OncoArray Consortium (ILCCO-OncoArray), Transdisciplinary Research Into Cancer of the Lung (TRICL), Prostate, Lung, Colorectal, and Ovarian Cancer Screening Trial (PLCO), and the …


Malaria In Children At 9 Us Hospitals: 2016-2023, Sesh Alexander Sundararaman, Brianne Roper, Amy K F Davis, Karen L Hanze Villavicencio, Jonathan A Mayhew, Michelle L Wang, Nina L Tang, Vijaya L Soma, Ziyi Wang, Margaret E Feeney, Indi Trehan, Jill E Weatherhead, Chandy C John, Jeffrey S Gerber, Audrey R Odom John Jun 2026

Malaria In Children At 9 Us Hospitals: 2016-2023, Sesh Alexander Sundararaman, Brianne Roper, Amy K F Davis, Karen L Hanze Villavicencio, Jonathan A Mayhew, Michelle L Wang, Nina L Tang, Vijaya L Soma, Ziyi Wang, Margaret E Feeney, Indi Trehan, Jill E Weatherhead, Chandy C John, Jeffrey S Gerber, Audrey R Odom John

Faculty, Staff and Students Publications

Objectives: This study set out to describe imported pediatric malaria in the United States over an 8-year period, including patient demographics, clinical outcomes, and risk factors for severe disease.

Methods: A retrospective descriptive study of pediatric patients treated for malaria at 9 hospitals in the United States from 2016 to 2023 was conducted to analyze patient demographics, clinical outcomes, and risk factors for severe malaria.

Results: A total of 171 children were treated across the 9 US hospitals included in this study from 2016 to 2023. Most patients had traveled to West Africa to visit friends and relatives. Fever was …


Identification Of A Persistent Ascaris-Derived Kalirin Epitope Associated With Chronic T Cell Activation In The Lung, Yifan Wu, Leroy Versteeg, Meng-Chih Wu, Jill E Weatherhead Jun 2026

Identification Of A Persistent Ascaris-Derived Kalirin Epitope Associated With Chronic T Cell Activation In The Lung, Yifan Wu, Leroy Versteeg, Meng-Chih Wu, Jill E Weatherhead

Faculty, Staff and Students Publications

Ascariasis remains a dominant global health burden due to its vast prevalence and associated morbidity. The obligatory migration of Ascaris larvae through pulmonary tissue triggers intense type-2 inflammation which typically presents as acute allergic airway disease. Even after the parasite is eliminated, a single episode of larval migration can result in chronic lung damage and dysfunction, which may be driven by the long-term retention of helminth antigens in macrophages. However, the molecular identity of these retained antigens, and the mechanisms by which they sustain chronic T cell responses, remain unknown. In this study, we utilized immunopeptidomics to identify a retained …


Steroid Receptor Coactivators In Immunity – From Function To Emerging Translational Opportunities, Yosef Gilad, David M Lonard Jun 2026

Steroid Receptor Coactivators In Immunity – From Function To Emerging Translational Opportunities, Yosef Gilad, David M Lonard

Faculty, Staff and Students Publications

Steroid Receptor Coactivators (SRCs) comprise a family of three paralogous proteins. As transcriptional coactivators SRCs are essential for enabling the full transcriptional output of nuclear receptors (NRs). They regulate the transcriptional activity of nearly all NRs as well as a wide range of non-NR transcription factors. The central role of SRCs in gene regulation is reflected in their broad impact on major physiological and pathological processes, such as development, reproduction, metabolism, immunity and cancer. Although the major impact of SRCs on human health and disease established them as attractive therapeutic targets, their effective pharmacological targeting remained a challenge for nearly …


Mindful Self-Compassion To Reduce Pain Interference Among Adults With Osteogenesis Imperfecta, Amena Sediqi, Roya Al-Khalili, Saunya Dover, Corien Peeters, Adam Khalif, V Reid Sutton, Frank Rauch, Brendan Lee, Eric A Storch, Marie-Eve Robinson Jun 2026

Mindful Self-Compassion To Reduce Pain Interference Among Adults With Osteogenesis Imperfecta, Amena Sediqi, Roya Al-Khalili, Saunya Dover, Corien Peeters, Adam Khalif, V Reid Sutton, Frank Rauch, Brendan Lee, Eric A Storch, Marie-Eve Robinson

Faculty, Staff and Students Publications

Between 60 and 80% of adults with osteogenesis imperfecta (OI) experience chronic pain and associated interference. Currently available pain therapies often provide marginal efficacy. Mindful self-compassion (MSC) has emerged as a promising intervention for coping with chronic pain. We conducted a single-center 8-week pilot intervention study to assess the feasibility and acceptability of a MSC program among adults with OI and co-occurring chronic pain. Individuals attended the validated MSC course consisting of 8 weekly virtual 2-h sessions. Participants completed a battery of validated questionnaires assessing pain, various aspects of well-being, and physical function at baseline and post-intervention. Participants wore the …


Functional Genomics Studies Of Psychiatric Disorders In Individuals Of Latin American Populations: A Scoping Review, Luz M Porras, Isabelle Rodríguez-Lausell, Gabriel Iglesias-Maldonado, Emily Val F Tuliao, Gabriela Martínez, Chelsey Leveque, Julian Tobon, Rachel Eloy, Sintia Belangero, Cynthia M Bulik, Camila M Loureiro, Carolina Muniz Carvalho, Vanessa Ota, Diego Luiz Rovaris, Eric A Storch, Eva Maria Trujillo-Chi Vacuan, Maria M Velasquez, Latin American Genomics Consortium, Marcos L Santoro, Humberto Nicolini, Elizabeth G Atkinson, Janitza L Montalvo-Ortiz, Paola Giusti-Rodríguez Jun 2026

Functional Genomics Studies Of Psychiatric Disorders In Individuals Of Latin American Populations: A Scoping Review, Luz M Porras, Isabelle Rodríguez-Lausell, Gabriel Iglesias-Maldonado, Emily Val F Tuliao, Gabriela Martínez, Chelsey Leveque, Julian Tobon, Rachel Eloy, Sintia Belangero, Cynthia M Bulik, Camila M Loureiro, Carolina Muniz Carvalho, Vanessa Ota, Diego Luiz Rovaris, Eric A Storch, Eva Maria Trujillo-Chi Vacuan, Maria M Velasquez, Latin American Genomics Consortium, Marcos L Santoro, Humberto Nicolini, Elizabeth G Atkinson, Janitza L Montalvo-Ortiz, Paola Giusti-Rodríguez

Faculty, Staff and Students Publications

Over the past 15 years, genetic studies of psychiatric disorders have provided important insight into the contribution of both common variants of small effect, as well as rare exonic and copy number variants with large effect sizes. Genome-wide association studies (GWAS) allow us to understand the intricate polygenicity characteristic of many psychiatric disorders. However, a considerable proportion of single nucleotide polymorphisms (SNPs) implicated in these disorders localize to the non-coding regions of the genome. Unraveling the molecular mechanisms that underlie the etiology of psychiatric illnesses requires integration using functional genomics approaches. Functional genomics methods are critical for developing a mechanistic …


Systems Genetic Dissection Of Brain Gene Expression Reveals Excitotoxic Mechanisms Of Alzheimer’S Disease, Pinghan Zhao, Omar El Fadel, Anh Le, Carl Grant Mangleburg, Justin Dhindsa, Timothy Wu, Jinghan Zhao, Meichen Huang, Bismark Amoh, Aditi Sai Marella, Yarong Li, Nicholas T Seyfried, Allan I Levey, Zhandong Liu, Ismael Al-Ramahi, Juan Botas, Joshua M Shulman Jun 2026

Systems Genetic Dissection Of Brain Gene Expression Reveals Excitotoxic Mechanisms Of Alzheimer’S Disease, Pinghan Zhao, Omar El Fadel, Anh Le, Carl Grant Mangleburg, Justin Dhindsa, Timothy Wu, Jinghan Zhao, Meichen Huang, Bismark Amoh, Aditi Sai Marella, Yarong Li, Nicholas T Seyfried, Allan I Levey, Zhandong Liu, Ismael Al-Ramahi, Juan Botas, Joshua M Shulman

Faculty, Staff and Students Publications

Gene expression changes likely mediate the impact of Alzheimer's disease (AD) neuropathology on cognition, but there are challenges to resolve the proximal causal pathways from postmortem brain transcriptome profiles which lack temporal resolution and are further confounded by mixed pathologies. Here, we functionally dissect 30 AD-associated human brain gene co-expression modules using fruit fly (Drosophila melanogaster) models. Integrating longitudinal RNA-sequencing and behavioral phenotyping, we interrogated the consequences of amyloid beta (Aβ) plaques, tau neurofibrillary tangles, and aging, highlighting hundreds of conserved, differentially expressed genes. To pinpoint causal modules and drivers, we manipulated 344 prioritized targets in vivo, identifying 141 modifiers …


Whole Genome Sequencing Analysis Of Over 3500 Individuals Dementia-Free Over 85 Years Old, Gina M Peloso, Dongyu Wang, Sabrina M Abbruzzese, Joshua C Bis, Seung Hoan Choi, Alexa Beiser, Jan Bressler, Josée Dupuis, Alison E Fohner, Mohsen Ghanbari, Richard A Gibbs, Nancy Heard-Costa, M Arfan Ikram, Paul Lacaze, Quentin Le Grand, Oscar L Lopez, Thomas H Mosley, Moeen Riaz, Aïcha Soumaré, Amber Yaqub, Eric Boerwinkle, Bruce M Psaty, Myriam Fornage, Sudha Seshadri, Anita L Destefano Jun 2026

Whole Genome Sequencing Analysis Of Over 3500 Individuals Dementia-Free Over 85 Years Old, Gina M Peloso, Dongyu Wang, Sabrina M Abbruzzese, Joshua C Bis, Seung Hoan Choi, Alexa Beiser, Jan Bressler, Josée Dupuis, Alison E Fohner, Mohsen Ghanbari, Richard A Gibbs, Nancy Heard-Costa, M Arfan Ikram, Paul Lacaze, Quentin Le Grand, Oscar L Lopez, Thomas H Mosley, Moeen Riaz, Aïcha Soumaré, Amber Yaqub, Eric Boerwinkle, Bruce M Psaty, Myriam Fornage, Sudha Seshadri, Anita L Destefano

Faculty, Staff and Students Publications

BACKGROUND:

Identifying genetic variants conferring resilience to Alzheimer’s disease and related dementia (ADRD) may hold promise for developing therapeutics.

OBJECTIVE:

To determine genetic associations with being dementia-free at age 85 (DF85).

METHODS:

We examined genetic associations, using whole genome sequencing data, with DF85 in three Trans-Omics for Precision Medicine cohorts and the Alzheimer’s Disease Sequencing Project Phenotype Harmonization Consortium. We tested common variants individually and aggregation of rare (MAF≤1%) coding and non-coding variants in DF85 participants (n=3,657) against individuals who were not DF85 (n=20,010). We verified associations using a stricter control set who developed dementia before age 85 (n=5,552).

RESULTS: …


Structural Determinants Of Ligand Response Specificity In The Mast Cell Activating Gpcr, Mrgprx2, Abiodun Adefola R Adeosun, Melina A Agosto, Olivier Lichtarge, Theodore G Wensel Jun 2026

Structural Determinants Of Ligand Response Specificity In The Mast Cell Activating Gpcr, Mrgprx2, Abiodun Adefola R Adeosun, Melina A Agosto, Olivier Lichtarge, Theodore G Wensel

Faculty, Staff and Students Publications

The mast cell-specific G-protein-coupled receptor (GPCR) MRGPRX2 (Mas-Related G Protein-coupled Receptor X2) has roles in itch and pain, and it mediates clinically relevant allergy-like responses to a diverse assortment of drugs. The varied responses of individuals to MRGPRX2 agonists, leading to drug hypersensitivity reactions in some cases, suggests the presence of consequential variants in the population. However, genetic associations with drug responses are poorly understood. We used heterologously-expressed MRGPRX2 to investigate the effect of 18 naturally occurring non-synonymous single nucleotide polymorphisms on activation by representative compounds from several classes, including neuropeptides, opioid agonists, antibiotics, neuromuscular blocking agents, and polycationic aromatic …


Plasticity And Language In The Anaesthetized Human Hippocampus, Kalman A Katlowitz, Eric R Cole, Elizabeth A Mickiewicz, Shraddha Shah, Melissa Franch, Joshua A Adkinson, James L Belanger, Raissa K Mathura, Domokos Meszéna, Matthew Mcginley, William Muñoz, Garrett P Banks, Sydney S Cash, Chih-Wei Hsu, Angelique C Paulk, Nicole R Provenza, Andrew J Watrous, Ziv Williams, Alica M Goldman, Vaishnav Krishnan, Atul Maheshwari, Sarah R Heilbronner, Robert Kim, Nuttida Rungratsameetaweemana, Benjamin Y Hayden, Sameer A Sheth Jun 2026

Plasticity And Language In The Anaesthetized Human Hippocampus, Kalman A Katlowitz, Eric R Cole, Elizabeth A Mickiewicz, Shraddha Shah, Melissa Franch, Joshua A Adkinson, James L Belanger, Raissa K Mathura, Domokos Meszéna, Matthew Mcginley, William Muñoz, Garrett P Banks, Sydney S Cash, Chih-Wei Hsu, Angelique C Paulk, Nicole R Provenza, Andrew J Watrous, Ziv Williams, Alica M Goldman, Vaishnav Krishnan, Atul Maheshwari, Sarah R Heilbronner, Robert Kim, Nuttida Rungratsameetaweemana, Benjamin Y Hayden, Sameer A Sheth

Faculty, Staff and Students Publications

Consciousness is a fundamental component of cognition1, but the degree to which higher-order pattern recognition relies on it remains disputed2,3. Here we demonstrate the persistence of oddball discrimination, semantic processing and online prediction in individuals under general-anaesthesia-induced loss of consciousness4,5. Using high-density Neuropixels microelectrodes6 to record both single-unit and local-field-potential neural activity in the human hippocampus while playing a series of tones to anaesthetized patients, we found that hippocampal neurons and local oscillations retained some detection of oddball tones. This effect size grew over the course of the experiment …


Curriculum Innovation: Neurocritical Care Eeg Rounds: A Model To Improve Neurology Resident Eeg Interpretation., Ellen Sylvie Sanchez Mas, Mitchell Lloyd Powell, Marco Malaga, Corey Elam Goldsmith, Rahul Damani, Lu Lin Jun 2026

Curriculum Innovation: Neurocritical Care Eeg Rounds: A Model To Improve Neurology Resident Eeg Interpretation., Ellen Sylvie Sanchez Mas, Mitchell Lloyd Powell, Marco Malaga, Corey Elam Goldsmith, Rahul Damani, Lu Lin

Faculty, Staff and Students Publications

Background and purpose: Rural-urban disparities in neurological care have been well documented, but limited data exist regarding Guillain-Barré Syndrome (GBS). This study examines differences in patient demographics, hospital characteristics, and outcomes among GBS admissions to rural versus urban hospitals in the United States.

Methods: Using the 2021 National Inpatient Sample, we conducted a retrospective cohort study of adult hospitalizations with a principal diagnosis of GBS. Hospitals were classified as rural or urban based on U.S. census designations. Multivariate logistic and linear regression models were used to assess associations between hospital location and outcomes, adjusting for demographic, clinical, and hospital-level factors. …


Ilae-Yes Global Webinar Series: Integrating Clinical And Basic Science In Epilepsy Research, Cecilie G Nome, Parthvi Ravat, Fabrice Bartolomei, Marco De Curtis, Rossella Di Sapia, Marian Galovic, Maria Gogou, Lukas Imbach, Julia Jacobs, Katja Kobow, Alice D Lam, Christos Panagiotis Lisgaras, Elisa Micalizzi, Eleni Nikalexi, Jeffrey L Noebels, Jeanne T Paz, Avtar Singh Roopra, Sally Shaaban, Laurent Sheybani, Shobi Sivathamboo, Ana Suller Marti, Adam Williamson, Naoto Kuroda Jun 2026

Ilae-Yes Global Webinar Series: Integrating Clinical And Basic Science In Epilepsy Research, Cecilie G Nome, Parthvi Ravat, Fabrice Bartolomei, Marco De Curtis, Rossella Di Sapia, Marian Galovic, Maria Gogou, Lukas Imbach, Julia Jacobs, Katja Kobow, Alice D Lam, Christos Panagiotis Lisgaras, Elisa Micalizzi, Eleni Nikalexi, Jeffrey L Noebels, Jeanne T Paz, Avtar Singh Roopra, Sally Shaaban, Laurent Sheybani, Shobi Sivathamboo, Ana Suller Marti, Adam Williamson, Naoto Kuroda

Faculty, Staff and Students Publications

Bridging clinical and basic research is increasingly recognized as a priority in the epilepsy field, yet opportunities for integration remain limited by the time, space, and financial constraints of scientific meetings. To address this gap, the Research Task Force of the Young Epilepsy Section of the International League Against Epilepsy (ILAE-YES) organized a free global webinar series designed to promote translational dialogue and provide accessible research education for early-career clinicians, researchers, and physician-scientists. Based on a preliminary ILAE-YES community survey, eight topics of high interest were selected: (1) epigenetics, (2) EEG biomarkers, (3) ictogenesis, (4) thalamo-cortical network, (5) sudden unexpected …


Menopause May Partially Explain Age-Related Increased Risk Of Masld Fibrosis: A Causal Mediation Analysis, Itunu O Sokale, Yan Liu, Hashem B El-Serag, Fasiha Kanwal, Aaron P Thrift, Maya Balakrishnan Jun 2026

Menopause May Partially Explain Age-Related Increased Risk Of Masld Fibrosis: A Causal Mediation Analysis, Itunu O Sokale, Yan Liu, Hashem B El-Serag, Fasiha Kanwal, Aaron P Thrift, Maya Balakrishnan

Faculty, Staff and Students Publications

No abstract provided.


Barrett’S Esophagus-Associated Genetic Loci In African Americans: A Case-Control Study Using The All Of Us Research Program, Ashwin Rao, Jinyoung Byun, Aaron P Thrift, Hashem B El-Serag Jun 2026

Barrett’S Esophagus-Associated Genetic Loci In African Americans: A Case-Control Study Using The All Of Us Research Program, Ashwin Rao, Jinyoung Byun, Aaron P Thrift, Hashem B El-Serag

Faculty, Staff and Students Publications

Background and aims: Barrett's esophagus is the only known precursor lesion to esophageal adenocarcinoma (EAC). Barrett's esophagus and EAC are less common in African Americans than in non-Hispanic Whites. Studies in European populations have identified Barrett's esophagus-associated risk loci; however, none have examined loci in African Americans cohorts. We conducted a case-control targeted replication study to investigate previously identified Barrett's esophagus risk loci in an African Americans cohort in the All of Us (AoU) Research Program.

Methods: We abstracted phenomic and genomic data from 108 African Americans with Barrett's esophagus and 778 African Americans controls in the AoU database. We …


Association Of Infection Frequency And Incident Clonal Hematopoiesis Of Indeterminant Potential, Ajibike Lapite, Vernon A Burk, James Decuir, Junichi Ishigami, Seyedmohammad Saadatagah, Pradeep Natarajan, Christie M Ballantyne, Elizabeth A Platz, Katherine Y King Jun 2026

Association Of Infection Frequency And Incident Clonal Hematopoiesis Of Indeterminant Potential, Ajibike Lapite, Vernon A Burk, James Decuir, Junichi Ishigami, Seyedmohammad Saadatagah, Pradeep Natarajan, Christie M Ballantyne, Elizabeth A Platz, Katherine Y King

Faculty, Staff and Students Publications

Clonal hematopoiesis of indeterminant potential (CHIP) is an age-related phenomenon associated with increased risk of hematologic malignancy. Preclinical studies have shown that infection is a driver of CHIP; clinical studies in people living with HIV suggest a relationship between chronic infection and CHIP, but the association between infection frequency and incident CHIP in the general population remains unknown. We leveraged the atherosclerosis risk in communities study to design a closed prospective cohort study. CHIP was determined based on whole-exome sequencing at 2 time points 20 years apart. Included were 3,367 individuals without cancer or CHIP at time 1 and without …


Comparison Of Different “Familial Chylomicronemia Syndrome” Clinical Diagnosis Scoring Systems In Patients With Persistent Chylomicronemia, Diane Brisson, Miriam Larouche, Nathalie Laflamme, Seyedmohammad Saadatagah, Jean Bergeron, Christie M Ballantyne, Daniel Gaudet Jun 2026

Comparison Of Different “Familial Chylomicronemia Syndrome” Clinical Diagnosis Scoring Systems In Patients With Persistent Chylomicronemia, Diane Brisson, Miriam Larouche, Nathalie Laflamme, Seyedmohammad Saadatagah, Jean Bergeron, Christie M Ballantyne, Daniel Gaudet

Faculty, Staff and Students Publications

Background: Chylomicronemia is associated with extreme hypertriglyceridemia and an increased risk of acute pancreatitis and cardiometabolic complications. Rarely, chylomicronemia persists despite control of secondary causes and conventional treatments. The most severe form of persistent chylomicronemia (PC) is familial chylomicronemia syndrome (FCS). Diagnosis scoring systems have been developed to help clinicians differentiate FCS from other causes of chylomicronemia.

Objective: To assess the ability of FCS diagnosis scoring systems to discriminate FCS from other forms of PC.

Methods: This study included 413 Caucasians presenting a history of chylomicronemia, among whom 65 (15.7%) met the criteria of PC. The performance of 3 FCS …


Use Of Plozasiran Across A Spectrum Of Hypertriglyceridemia: Long-Term Efficacy And Safety Data From The Open-Label Extension Period Of Shasta-2 And Muir Trials, Christie M Ballantyne, Alexis Baass, Robert S Rosenson, Robert A Hegele, Stephen J Nicholls, Szilard Vasas, Peter Clifton, Kathryn J Lucas, Denes Pall, Rong Zhou, Nicholas J Leeper, Jennifer Hellawell, Lalitha Aiyer, Gerald F Watts, Daniel Gaudet Jun 2026

Use Of Plozasiran Across A Spectrum Of Hypertriglyceridemia: Long-Term Efficacy And Safety Data From The Open-Label Extension Period Of Shasta-2 And Muir Trials, Christie M Ballantyne, Alexis Baass, Robert S Rosenson, Robert A Hegele, Stephen J Nicholls, Szilard Vasas, Peter Clifton, Kathryn J Lucas, Denes Pall, Rong Zhou, Nicholas J Leeper, Jennifer Hellawell, Lalitha Aiyer, Gerald F Watts, Daniel Gaudet

Faculty, Staff and Students Publications

Background: Plozasiran, a hepatocyte-targeted siRNA against apolipoprotein C-III, has demonstrated substantial reductions in triglycerides (TGs) and related atherogenic lipoproteins across a spectrum of hypertriglyceridemia (HTG), leading to its approval for familial chylomicronemia syndrome in the United States, and subsequently in Canada and China. Long-term data suggest maintenance of these effects beyond the blinded treatment periods, supporting further evaluation of plozasiran across a broad spectrum of HTG.

Methods: Safety and efficacy were assessed in this open-label extension (OLE) of two phase 2b, randomized, double-blind trials, SHASTA-2 (n = 229) including patients with severe HTG (TG >500 mg/dL) and MUIR ( …


Disrupting Clinical Inertia: Personalizing Cardiovascular Risk To Transform Cardiometabolic Care In The Real World, Layla A Abushamat, Jane E B Reusch, Christie M Ballantyne Jun 2026

Disrupting Clinical Inertia: Personalizing Cardiovascular Risk To Transform Cardiometabolic Care In The Real World, Layla A Abushamat, Jane E B Reusch, Christie M Ballantyne

Faculty, Staff and Students Publications

No abstract provided.


Human Neuronal Firing Varies With The Frequency Of Local Field Potential Oscillations, Zahra Jourahmad, Raissa K Mathura, Layth S Mattar, Melissa C Franch, Danika L Paulo, Mohammed Hasen, Nicole R Provenza, Benjamin Y Hayden, Sameer A Sheth, Eleonora Bartoli, Andrew J Watrous Jun 2026

Human Neuronal Firing Varies With The Frequency Of Local Field Potential Oscillations, Zahra Jourahmad, Raissa K Mathura, Layth S Mattar, Melissa C Franch, Danika L Paulo, Mohammed Hasen, Nicole R Provenza, Benjamin Y Hayden, Sameer A Sheth, Eleonora Bartoli, Andrew J Watrous

Faculty, Staff and Students Publications

Neural oscillations play a critical role in shaping neuronal firing patterns. While phase-locked neuronal firing ("phase tuning") has been extensively studied in animal models and human invasive recordings, much less is known about whether neurons show preferential firing at specific oscillatory frequencies, termed frequency tuning. Here, we employ human intracranial recordings across several brain regions including hippocampus, entorhinal cortex, anterior and posterior cingulate cortex, and orbitofrontal cortex to test the hypothesis that neurons exhibit frequency-specific firing. We analyzed 357 single units recorded simultaneously with local field potentials in 19 neurosurgical patients during awake resting. We estimated the instantaneous frequency of …


Non-Isolated Dandy-Walker Malformation: Exome Sequencing Efficacy And Phenotypic Expansions, Sarah Araji, Xiaonan Zhao, Jill A Rosenfeld, Seema R Lalani, Daryl A Scott Jun 2026

Non-Isolated Dandy-Walker Malformation: Exome Sequencing Efficacy And Phenotypic Expansions, Sarah Araji, Xiaonan Zhao, Jill A Rosenfeld, Seema R Lalani, Daryl A Scott

Faculty, Staff and Students Publications

Dandy-Walker malformation (DWM) is a rare congenital abnormality of the posterior fossa and the cerebellum and has an incidence of 1 in 10 000 to 30 000 births. Although DWM can present in isolation, it is often associated with other central nervous system (CNS) abnormalities or extra-CNS anomalies (DWM+). A molecular cause is not identified in the majority of individuals with DWM+. This is due, in part, to uncertainty regarding optimal testing strategies and an incomplete understanding of the genetic causes of DWM+. In this study, we analyzed clinical exome sequencing (cES) data from 91 individuals with DWM+ to determine …


Matching-Adjusted Indirect Comparison Of Acoltremon Ophthalmic Solution 0.003% And Cyclosporine 0.05% Ophthalmic Emulsion For Increased Tear Production In Patients With Dry Eye Disease, Stephen Pflugfelder, Tony Okoro, Margaret Ainslie-Garcia, Anja Haltner, Emily K Prentiss, Elizabeth M Salvo-Halloran, Nikethana Srikanth, Michelle Senchyna, Esen K Akpek Jun 2026

Matching-Adjusted Indirect Comparison Of Acoltremon Ophthalmic Solution 0.003% And Cyclosporine 0.05% Ophthalmic Emulsion For Increased Tear Production In Patients With Dry Eye Disease, Stephen Pflugfelder, Tony Okoro, Margaret Ainslie-Garcia, Anja Haltner, Emily K Prentiss, Elizabeth M Salvo-Halloran, Nikethana Srikanth, Michelle Senchyna, Esen K Akpek

Faculty, Staff and Students Publications

No abstract provided.


Diabetic Retinopathy Severity On Ultra-Widefield Fluorescein Angiography Versus Color Photography And Association With Risk Of Disease Worsening, Paolo S Silva, Danni Liu, Lloyd P Aiello, Ruben Grigorian, Sandeep Grover, Lee M Jampol, Daniel F Martin, Michele Melia, Christina Y Weng, Jennifer K Sun Jun 2026

Diabetic Retinopathy Severity On Ultra-Widefield Fluorescein Angiography Versus Color Photography And Association With Risk Of Disease Worsening, Paolo S Silva, Danni Liu, Lloyd P Aiello, Ruben Grigorian, Sandeep Grover, Lee M Jampol, Daniel F Martin, Michele Melia, Christina Y Weng, Jennifer K Sun

Faculty, Staff and Students Publications

Purpose: To evaluate the potential benefits of ultra-widefield (UWF) fluorescein angiography (FA) versus color photography in assessing the risk of diabetic retinopathy (DR) worsening.

Design: Exploratory analysis of a longitudinal observational study (Protocol AA).

Participants: Participants with ≥1 eye having nonproliferative DR at baseline.

Methods: For each UWF-color and UWF-FA image, the extent and severity of DR lesions within the ETDRS 7-field area ("masked") and the full image area ("unmasked") were determined. Diabetic retinopathy severity levels were graded for each combination of modality and masking condition using the ETDRS Diabetic Retinopathy Severity Scale (DRSS). Associations between baseline UWF-color and UWF-FA …


Hematochezia In A Patient With End-Stage Renal Disease, Brennan Gioe, Conrad Fernandes, E Celia Marginean, Stalin Subramanian Jun 2026

Hematochezia In A Patient With End-Stage Renal Disease, Brennan Gioe, Conrad Fernandes, E Celia Marginean, Stalin Subramanian

Faculty, Staff and Students Publications

No abstract provided.


Prognostic Value Of Stress Perfusion Cardiac Magnetic Resonance Imaging In Kawasaki Disease With Coronary Artery Aneurysms: A 10-Year Retrospective Cohort Study, Alexander J Kiener, S Kristen Sexson Tejtel, Aimee Liou, Carolyn A Altman, Tam T Doan Jun 2026

Prognostic Value Of Stress Perfusion Cardiac Magnetic Resonance Imaging In Kawasaki Disease With Coronary Artery Aneurysms: A 10-Year Retrospective Cohort Study, Alexander J Kiener, S Kristen Sexson Tejtel, Aimee Liou, Carolyn A Altman, Tam T Doan

Faculty, Staff and Students Publications

Background: Kawasaki disease (KD) with coronary artery aneurysms (CAA) places patients at risk for myocardial ischemia and major cardiac events (MCE). While stress perfusion cardiac magnetic resonance imaging (spCMR) is used for surveillance, its prognostic value has not been established.

Methods: We conducted a retrospective cohort study of KD patients (AHA risk levels 3-5) who underwent clinically indicated vasodilator spCMR at a tertiary pediatric center between October 2014 and December 2024. We evaluated inducible perfusion defects, late gadolinium enhancement (LGE), ventricular function, and MCE (myocardial infarction, ventricular dysfunction, arrhythmia, revascularization, transplant, or death). We performed Cox regression and Kaplan-Meier analyses …


A Phase 4, Open-Label, Non-Randomized, Multicenter Study To Evaluate Efficacy (And Safety) Of Intravenous Administration Of Optison For Contrast-Enhanced Echocardiography In Pediatric Patients, Arash Sabati, Shuo Wang, Pushpa Shivaram, Joshua Hawley, David Thompson, Francine Erenberg, Shelby Kutty, Aparna Kulkarni, Tam T Doan, Joshua D Robinson Jun 2026

A Phase 4, Open-Label, Non-Randomized, Multicenter Study To Evaluate Efficacy (And Safety) Of Intravenous Administration Of Optison For Contrast-Enhanced Echocardiography In Pediatric Patients, Arash Sabati, Shuo Wang, Pushpa Shivaram, Joshua Hawley, David Thompson, Francine Erenberg, Shelby Kutty, Aparna Kulkarni, Tam T Doan, Joshua D Robinson

Faculty, Staff and Students Publications

Contrast-enhanced echocardiography (CE-echo) is commonly used in adult patients to optimize endocardial border delineation (EBD) but there is limited experience in children. A prospective, open-label, non-randomized, multicenter study was performed to evaluate the efficacy of intravenous Optison for CE-echo in pediatric patients and determine the optimal dose of Optison. Subjects ≥ 9 and <  18 years with suboptimal echocardiograms (defined as ≥ 2 contiguous segments that could not be adequately visualized) were enrolled. After a baseline non-contrast echocardiogram (NC-echo), CE-echo was performed with 2 dose levels of Optison based on patient weight. The primary endpoint was visualization of the LV wall segments (LVWS) in apical 2- and 4-chamber views. An EBD score was calculated by assigning a value from 0 (no visualization) to 3 (optimal visualization) for 12 LVWS. 37 subjects across 8 sites completed the study. 30 had complete echocardiograms at both dose levels. 2 patients had usable images at dose 2 only. Mean age was 13.4 years (± 2.6) with 23 males (62%). Mean weight was 73.9 kg (± 36.8) with wide distribution of weight (interquartile range of 42-102 kg). There were 8 patients under 40 kg. Most subjects had a prior medical/surgical history (n = 33, 89%). Both dose levels of Optison CE-echo improved the number of LVWS visualized from 3.7 ± 1.1 on NC-echo to 10.0 ± 0.1 with dose 1 (p <  0.001) and 10.5 ± 0.1 with dose 2 (p <  0.001). EBD score also improved at both dose levels from 11.9 ± 2.5 for NC-echo to 28.5 ± 1.7 for dose 1 (p <  0.001) and 30.2 ± 8.4 for dose 2 (p <  0.001). The number of suboptimal echocardiograms improved from 92.3% ± 10.7 in NC-echo to 26.2% ± 9 with dose 1 (p <  0.001) and 30.8% ± 4.5 with dose 2 (p <  0.001). CE-echo with intravenous Optison in pediatric patients improved the number of LVWS visualized, improved EBD score, and reduced the number of suboptimal echocardiograms at both dosages used in this study. Intravenous Optison can improve LV visualization in pediatric patients with suboptimal echocardiograms.


Myocardial T1 And T2 Values Are Associated With Patient Age In Healthy Pediatric Heart Transplant Recipients, Andrew A Lawson, Robyn G Lottes, Defne Magnetta, Andrada Popescu, Kae Watanabe, Cynthia K Rigsby, Michael Markl, Nazia Husain Jun 2026

Myocardial T1 And T2 Values Are Associated With Patient Age In Healthy Pediatric Heart Transplant Recipients, Andrew A Lawson, Robyn G Lottes, Defne Magnetta, Andrada Popescu, Kae Watanabe, Cynthia K Rigsby, Michael Markl, Nazia Husain

Faculty, Staff and Students Publications

Background: In pediatric heart transplant recipients (PHTR), myocardial T1 and T2 values are elevated in the setting of acute rejection and with cardiac allograft vasculopathy. In normal, healthy children, T1 and T2 values vary with patient age. Our goal was to identify associations between T1, extracellular volume fraction (ECV), and T2 values and patient- and donor-characteristics in PHTR without history of significant graft pathology.

Methods: We performed a single-center, retrospective chart review of consecutive cardiac magnetic resonance (CMR) studies in PHTR from 2017 to 2023. Exclusion criteria were a prior CMR during the study period, history of any prior antibody-mediated …


Validity And Utility Of A Single-Item Patient-Reported Measure Of Treatment-Related Bother In Rheumatoid Arthritis: A Cross-Sectional Omeract Study, Dorthe B Berthelsen, Tobias Haugegaard, Mohammed M Kamso, Peter Tugwell, Lee S Simon, John P A Ioannidis, Caroline Flurey, Maarten Boers, Marieke Voshaar, Pam Richards, Beverly Shea, Daniel E Furst, Jasvinder A Singh, Randall Stevens, Thasia Woodworth, Susan J Bartlett, Glen S Hazlewood, Robin Christensen Jun 2026

Validity And Utility Of A Single-Item Patient-Reported Measure Of Treatment-Related Bother In Rheumatoid Arthritis: A Cross-Sectional Omeract Study, Dorthe B Berthelsen, Tobias Haugegaard, Mohammed M Kamso, Peter Tugwell, Lee S Simon, John P A Ioannidis, Caroline Flurey, Maarten Boers, Marieke Voshaar, Pam Richards, Beverly Shea, Daniel E Furst, Jasvinder A Singh, Randall Stevens, Thasia Woodworth, Susan J Bartlett, Glen S Hazlewood, Robin Christensen

Faculty, Staff and Students Publications

Objectives: To assess the construct validity of a modified single-item measure of bother due to side effects (the GP5 item) from the Functional Assessment of Chronic Illness Therapy (FACIT) system by comparing it to current symptomatic side effects from the Patient-Reported Outcomes of the Common Terminology Criteria for Adverse Events (PROCTCAE) reported by patients with rheumatoid arthritis (RA).

Methods: Through a cross-sectional, web-based survey we collected information on the frequency of symptomatic side effects and bother from side effects related to RA medications. We applied multiple correspondence analysis (MCA) to reduce 80 symptomatic side effects into key dimensions (≥5% of …


Paid Employment And Ability To Work Among People Receiving Dialysis: A Systematic Review Of Qualitative Studies, Ao Zhang, Adam Martin, Karine Manera, Chandana Guha, Martin Howell, Patrizia Natale, Nicole Scholes-Robertson, Dharshana Sabanayagam, Adeera Levin, Wolfgang Winkelmayer, Kevin F Erickson, Germaine Wong, Allison Jaure, Anita Van Zwieten Jun 2026

Paid Employment And Ability To Work Among People Receiving Dialysis: A Systematic Review Of Qualitative Studies, Ao Zhang, Adam Martin, Karine Manera, Chandana Guha, Martin Howell, Patrizia Natale, Nicole Scholes-Robertson, Dharshana Sabanayagam, Adeera Levin, Wolfgang Winkelmayer, Kevin F Erickson, Germaine Wong, Allison Jaure, Anita Van Zwieten

Faculty, Staff and Students Publications

Rationale & objective: People receiving dialysis have reduced workforce participation, which can affect mental well-being and exacerbate the financial burden of dialysis. This study describes the experiences and perspectives of people receiving dialysis on employment and their ability to work.

Study design: Systematic review and thematic synthesis of qualitative studies.

Setting & study populations: Adults aged 16 years and over receiving dialysis.

Search strategy & sources: MEDLINE, Embase, and PsycINFO were searched to May 2025 for qualitative and mixed-methods studies that reported the perspectives of people receiving dialysis on employment or ability to work.

Data extraction: Text from results and …