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Clinical Outcomes Following Stereotactic Mri-Guided Laser Ablation In Children With Tuberous Sclerosis Complex And Intractable Epilepsy, Chelsey Ortman, Rohini Coorg, Irfan Ali, Dave Clarke, Gloria Diaz-Medina, Kimberly Houck, Akshat Katyayan, Laura Masters, Deepankar Mohanty, Anuranjita Nayak, Michael Quach, Vijay M Ravindra, James J Riviello, Sonali Sen, Elaine Seto, Danielle Takacs, Cristina Trandafir, John T Freiling, Karen Evankovich, Yingchao Yuan, Kalman A Katlowitz, Daniel Curry, Howard L Weiner, Anne Anderson Mar 2026

Clinical Outcomes Following Stereotactic Mri-Guided Laser Ablation In Children With Tuberous Sclerosis Complex And Intractable Epilepsy, Chelsey Ortman, Rohini Coorg, Irfan Ali, Dave Clarke, Gloria Diaz-Medina, Kimberly Houck, Akshat Katyayan, Laura Masters, Deepankar Mohanty, Anuranjita Nayak, Michael Quach, Vijay M Ravindra, James J Riviello, Sonali Sen, Elaine Seto, Danielle Takacs, Cristina Trandafir, John T Freiling, Karen Evankovich, Yingchao Yuan, Kalman A Katlowitz, Daniel Curry, Howard L Weiner, Anne Anderson

Faculty, Staff and Students Publications

Objective: In children with tuberous sclerosis complex (TSC) and drug-resistant epilepsy (DRE), magnetic resonance imaging-guided stereotactic laser ablation (SLA) therapy offers less-invasive treatment compared to craniotomy and resection. Our study seeks to further expand on the long-term outcomes in patients with TSC-related DRE who have undergone SLA.

Methods: Patients with TSC and DRE treated with SLA, between July 1, 2016 and January 1, 2022, at our institution were identified retrospectively. Reduction in number of anti-seizure medications (ASMs), developmental improvement as reported by the patients' families, seizure frequency measured in surgically targeted seizure type and total seizures per day, and Engel …


Segmental And Multifocal Isolated Dystonias: Similarities And Differences, Hyder A Jinnah, Vittorio Velucci, Daniele Belvisi, Gamze Kilic-Berkmen, Joel S Perlmutter, Laura J Wright, Christine Klein, Jeanne S Feuerstein, Steven Bellows, Joseph Jankovic, Cynthia Comella, Richard L Barbano, Aparna Wagle Shukla, Stephen G Reich, Mark S Ledoux, Alberto J Espay, Kevin R Duque, Florence C F Chang, Victor S C Fung, Sarah Pirio-Richardson, Carmen Terranova, Emile S Moukheiber, Sarah Idrissi, Barbara Vitucci, Susan H Fox, Samuel Frank, Natividad Stover, Brian D Berman, Rachel Saunders-Pullman, William G Ondo, Christopher L Groth, Marcello Esposito, Laura Avanzino, Francesco Bono, Roberto Erro, Marcello Mario Mascia, Antonella Muroni, Alfredo Berardelli, Giovanni Defazio Mar 2026

Segmental And Multifocal Isolated Dystonias: Similarities And Differences, Hyder A Jinnah, Vittorio Velucci, Daniele Belvisi, Gamze Kilic-Berkmen, Joel S Perlmutter, Laura J Wright, Christine Klein, Jeanne S Feuerstein, Steven Bellows, Joseph Jankovic, Cynthia Comella, Richard L Barbano, Aparna Wagle Shukla, Stephen G Reich, Mark S Ledoux, Alberto J Espay, Kevin R Duque, Florence C F Chang, Victor S C Fung, Sarah Pirio-Richardson, Carmen Terranova, Emile S Moukheiber, Sarah Idrissi, Barbara Vitucci, Susan H Fox, Samuel Frank, Natividad Stover, Brian D Berman, Rachel Saunders-Pullman, William G Ondo, Christopher L Groth, Marcello Esposito, Laura Avanzino, Francesco Bono, Roberto Erro, Marcello Mario Mascia, Antonella Muroni, Alfredo Berardelli, Giovanni Defazio

Faculty, Staff and Students Publications

Background: Whether the traditional distinction between segmental and multifocal dystonia is clinically or scientifically useful remains unclear.

Objective: To evaluate whether idiopathic isolated adult-onset segmental and multifocal dystonia can be differentiated based on clinical features other than the contiguity of affected body regions.

Methods: We compared data on segmental and multifocal dystonia from two large dystonia databases established in the USA and Italy that used similar criteria for patient recruitment and assessment.

Results: Compared to segmental dystonia, multifocal dystonia was characterized by a higher proportion of men, a younger age at dystonia onset, a greater frequency of upper limb dystonia, …


Comparison Of Variant Callers Using 60 532 Multi-Ancestry Whole Genome Sequences, Hufeng Zhou, Zilin Li, Derek Shyr, Xihao Li, Haoyu Yang, Rounak Dey, Yushi Tang, Robert Maier, Eric Boerwinkle, Steve Buyske, Mark Daly, Adam Felsenfeld, Richard A Gibbs, Namrata Gupta, Ira M Hall, Tara Matise, Ginger A Metcalf, Albert Smith, Catherine Reeves, Heidi J Sofia, Nathan O Stitziel, Michael C Zody, Nhgri Genome Sequencing Program (Gsp) Consortium, Benjamin Neale, Xihong Lin Mar 2026

Comparison Of Variant Callers Using 60 532 Multi-Ancestry Whole Genome Sequences, Hufeng Zhou, Zilin Li, Derek Shyr, Xihao Li, Haoyu Yang, Rounak Dey, Yushi Tang, Robert Maier, Eric Boerwinkle, Steve Buyske, Mark Daly, Adam Felsenfeld, Richard A Gibbs, Namrata Gupta, Ira M Hall, Tara Matise, Ginger A Metcalf, Albert Smith, Catherine Reeves, Heidi J Sofia, Nathan O Stitziel, Michael C Zody, Nhgri Genome Sequencing Program (Gsp) Consortium, Benjamin Neale, Xihong Lin

Faculty, Staff and Students Publications

Whole genome sequencing (WGS) studies play a pivotal role in studying the genetic underpinnings of human diseases and traits. High quality and reproducible variant calling is the cornerstone for the success of downstream analyses, including WGS association studies and polygenic risk prediction. This paper compares the data quality, performance, and concordance of two widely used WGS variant callers, the Genome Analysis Toolkit (GATK) and Variant Tool set that discovers short variants (VT), using 60 532 multi-ancestry whole genomes sequenced by the Centers for Common Disease Genomics (CCDGs) of the NHGRI Genome Sequencing Program. Our findings show that both QCed GATK …


Relationship Between Heart Rate Variability And Sleep Among Girls And Boys With Abdominal Pain-Related Disorders Of Gut-Brain Interaction, Kendra J Kamp, Robert L Burr, Camden E Matherne, Emily Simonds, Tasha Murphy, Margaret M Heitkemper, Rona L Levy, Robert J Shulman, Miranda A L Van Tilburg Mar 2026

Relationship Between Heart Rate Variability And Sleep Among Girls And Boys With Abdominal Pain-Related Disorders Of Gut-Brain Interaction, Kendra J Kamp, Robert L Burr, Camden E Matherne, Emily Simonds, Tasha Murphy, Margaret M Heitkemper, Rona L Levy, Robert J Shulman, Miranda A L Van Tilburg

Faculty, Staff and Students Publications

Background: Children with abdominal pain-related disorders of gut-brain interaction (AP-DGBI) often experience sleep disturbances which may be linked to the autonomic nervous system. Heart rate variability (HRV) is a non-invasive measure of autonomic nervous system activity. Our aim was to examine if HRV was associated with characteristics of disturbed sleep in children with AP-DGBI in order to elucidate the underlying physiological mechanisms of disturbed sleep.

Methods: This analysis used baseline data from a randomized control trial of 156 children ages 7-12 years with AP-DGBI. HRV was measured after dinner using a Polar monitor. Sleep disturbances were evaluated using the Children's …


Linkage Disequilibrium Score Regression Identifies Genetic Correlations Between Hepatocellular Carcinoma And Clinically Relevant Traits, Younghun Han, Vikram R Shaw, Jinyoung Byun, Aaron P Thrift, Catherine Zhu, Donghui Li, Rikita I Hatia, Robin Kate Kelley, Sean P Cleary, Anna S Lok, Paige M Bracci, Jennifer B Permuth, Roxana Bucur, Jennifer Knox, Jian-Min Yuan, Amit G Singal, Prasun K Jalal, R Mark Ghobrial, Yuko Kono, Dimpy P Shah, Mindie H Nguyen, Neehar D Parikh, Richard Kim, Hui-Chen Wu, Hashem El-Serag, Ping Chang, Yun Shin Chun, Jian Gu, Chad Huff, Asif Rashid, Lu-Yu Hwang, Alison P Klein, Saira A Khaderi, Ahmed O Kaseb, Kathrine A Mcglynn, Lewis R Roberts, Manal M Hassan, Christopher I Amos Mar 2026

Linkage Disequilibrium Score Regression Identifies Genetic Correlations Between Hepatocellular Carcinoma And Clinically Relevant Traits, Younghun Han, Vikram R Shaw, Jinyoung Byun, Aaron P Thrift, Catherine Zhu, Donghui Li, Rikita I Hatia, Robin Kate Kelley, Sean P Cleary, Anna S Lok, Paige M Bracci, Jennifer B Permuth, Roxana Bucur, Jennifer Knox, Jian-Min Yuan, Amit G Singal, Prasun K Jalal, R Mark Ghobrial, Yuko Kono, Dimpy P Shah, Mindie H Nguyen, Neehar D Parikh, Richard Kim, Hui-Chen Wu, Hashem El-Serag, Ping Chang, Yun Shin Chun, Jian Gu, Chad Huff, Asif Rashid, Lu-Yu Hwang, Alison P Klein, Saira A Khaderi, Ahmed O Kaseb, Kathrine A Mcglynn, Lewis R Roberts, Manal M Hassan, Christopher I Amos

Faculty, Staff and Students Publications

Hepatocellular carcinoma (HCC) mortality is increasing globally, partly due to the growing prevalence of nonviral liver diseases. Genome-wide association studies (GWAS) have identified genetic variants associated with HCC development. Leveraging GWAS summary statistics and linkage disequilibrium score regression (LDSR), we investigated disease co-development with hepatitis C virus-negative (HCV-negative) HCC to provide unique insights into HCC etiology and prioritize relationships for further causal inquiry. We utilized the LDSR statistical framework to estimate the genetic correlation and heritability between HCV-negative HCC with 901 epidemiologic, behavioral, and clinical traits from the United Kingdom Biobank (UKBB). First, we set the threshold for observed scale …


Rab4 Spatially And Functionally Converges With Rab7 In The Degradative Endolysosomal Network, Stephen M Farmer, Shiyu Xu, Yue Yu, Xin Ye, Haoyi Yang, Jing Cai, Beatriz Rios, Wen-Wen Lin, Daniela Covarrubias, Vicky Chuong, Lili Ye, German Zylberberg, Charissa Wang, Erin Furr-Stimming, Qingchun Tong, Oguz Kanca, Hugo J Bellen, Travis I Moore, Sheng Zhang Mar 2026

Rab4 Spatially And Functionally Converges With Rab7 In The Degradative Endolysosomal Network, Stephen M Farmer, Shiyu Xu, Yue Yu, Xin Ye, Haoyi Yang, Jing Cai, Beatriz Rios, Wen-Wen Lin, Daniela Covarrubias, Vicky Chuong, Lili Ye, German Zylberberg, Charissa Wang, Erin Furr-Stimming, Qingchun Tong, Oguz Kanca, Hugo J Bellen, Travis I Moore, Sheng Zhang

Faculty, Staff and Students Publications

Rab GTPases are key regulators of endosomal trafficking in eukaryotes. In mammalian cells, Rab4 and Rab7 were shown to localize to distinct compartments, with Rab4 on early endosomes for fast recycling and Rab7 on late endosomes for degradation. Here, we show that in Drosophila, endogenous Rab4 and Rab7 extensively colocalize across tissues and developmental stages. Recruited to the same compartments through mechanisms that do not require the activity of the other, they have opposing effects on endolysosomal size: Rab4 overexpression or Rab7 impairment leads to enlarged endolysosomes, whereas Rab4 loss or constitutively active Rab7 reduces their sizes. Rab4 deficiency suppresses …


Adenovirus Disease Following Pediatric Liver Transplantation: 10-Year Experience From A Large Pediatric Transplant Program, Anna M Banc-Husu, Sara Hassan, N Thao N Galvan, Elizabeth A Moulton, Jeremy M Schraw, Kathleen Hosek, Dana Cerminara, Flor M Munoz, Krupa Mysore Mar 2026

Adenovirus Disease Following Pediatric Liver Transplantation: 10-Year Experience From A Large Pediatric Transplant Program, Anna M Banc-Husu, Sara Hassan, N Thao N Galvan, Elizabeth A Moulton, Jeremy M Schraw, Kathleen Hosek, Dana Cerminara, Flor M Munoz, Krupa Mysore

Faculty, Staff and Students Publications

Background: Human adenovirus in immunocompromised patients can be life-threatening. We describe the prevalence, clinical presentation, and treatment of adenovirus after pediatric liver transplantation at a large transplant center.

Methods: We performed a retrospective cohort study of adenovirus infection in children from 2013 to 2022. We compared incidence, clinical characteristics, and outcomes of post-transplant children by adenovirus treatment status.

Results: Adenovirus disease developed in 26% (84/320) children after liver transplant. Median age at liver transplant was 17.5 months, 48% were female; 50% had biliary atresia. Fever (53%), gastrointestinal symptoms (48%), and hepatitis (41%) were the most common clinical presentations at diagnosis. …


Distributed Battery-Free Bioelectronic Implants With Improved Network Power Transfer Efficiency Via Magnetoelectrics, Joshua E Woods, Fatima Alrashdan, Ellie C Chen, Wendy Tan, Mathews John, Lukas Jaworski, Drew Bernard, Allison Post, Angel Moctezuma-Ramirez, Abdelmotagaly Elgalad, Alexander G Steele, Sean M Barber, Philip J Horner, Amir H Faraji, Dimitry G Sayenko, Mehdi Razavi, Jacob T Robinson Mar 2026

Distributed Battery-Free Bioelectronic Implants With Improved Network Power Transfer Efficiency Via Magnetoelectrics, Joshua E Woods, Fatima Alrashdan, Ellie C Chen, Wendy Tan, Mathews John, Lukas Jaworski, Drew Bernard, Allison Post, Angel Moctezuma-Ramirez, Abdelmotagaly Elgalad, Alexander G Steele, Sean M Barber, Philip J Horner, Amir H Faraji, Dimitry G Sayenko, Mehdi Razavi, Jacob T Robinson

Faculty, Staff and Students Publications

Networks of miniature implants could enable simultaneous sensing and stimulation at different locations in the body, such as the heart and central or peripheral nervous system. This capability would support precise disease tracking and treatment or enable prosthetic technologies with many degrees of freedom. However, wireless power and data transfer are often inefficient through biological tissues, particularly as the number of implanted devices increases. Here we show that magnetoelectric wireless data and power transfer supports a network of millimetre-sized bioelectronic implants in which system efficiency improves with additional devices. We demonstrate wireless, battery-free networks ranging from one to six implants, …


Lonp1 Variants Are Associated With Clinically Diverse Phenotypes, Randee E Young, Lu Qiao, Rebecca Hernan, David A Sweetser, Jessica L Waxler, Daryl A Scott, Tiana M Scott, Seema R Lalani, Mahshid S Azamian, Jill A Rosenfeld, Bret Bostwick, Lindsay C Burrage, Lance H Rodan, Bianca E Russell, Marina Dutra-Clarke, Michael Kruer, Somayeh Bakhtiarim, Hossein Darvish, David J Amor, Shamima Rahman, Karen Stals, Lisa Bradley, Susan Byrne, Leandra K Tolusso, Beatrix Wong, Laura Benedict, Kimberly Wallis, Kestutis Micke, Cindy Colson, Thomas Smol, Sabrina V Southwick, Kristen A Miller, Michelle L Kush, Odelia Chorin, Annick Rothschild, Wei Wang, Yufeng Shen, Wendy K Chung Mar 2026

Lonp1 Variants Are Associated With Clinically Diverse Phenotypes, Randee E Young, Lu Qiao, Rebecca Hernan, David A Sweetser, Jessica L Waxler, Daryl A Scott, Tiana M Scott, Seema R Lalani, Mahshid S Azamian, Jill A Rosenfeld, Bret Bostwick, Lindsay C Burrage, Lance H Rodan, Bianca E Russell, Marina Dutra-Clarke, Michael Kruer, Somayeh Bakhtiarim, Hossein Darvish, David J Amor, Shamima Rahman, Karen Stals, Lisa Bradley, Susan Byrne, Leandra K Tolusso, Beatrix Wong, Laura Benedict, Kimberly Wallis, Kestutis Micke, Cindy Colson, Thomas Smol, Sabrina V Southwick, Kristen A Miller, Michelle L Kush, Odelia Chorin, Annick Rothschild, Wei Wang, Yufeng Shen, Wendy K Chung

Faculty, Staff and Students Publications

LONP1 encodes a mitochondrial protease essential for protein quality control and metabolism. Variants in LONP1 are associated with a diverse and expanding spectrum of disorders, including Cerebral, Ocular, Dental, Auricular, and Skeletal anomalies syndrome (CODAS), congenital diaphragmatic hernia (CDH), and neurodevelopmental disorders (NDD), with some individuals exhibiting features of mitochondrial encephalopathy. We report 16 novel LONP1 variants identified in 16 individuals (11 with NDD, 5 with CDH), further expanding the clinical spectrum. Structural mapping of disease-associated missense variants revealed phenotype-specific clustering, with CODAS variants enriched in the proteolytic chamber and NDD variants more broadly distributed. CODAS is caused by biallelic …


Comparing Observed With Self-Reported Hand Hygiene Adherence Among Bedside Nurses And Physicians At Two Hospitals In The United States, Prathit A Kulkarni, M Todd Greene, Sanjay Saint, Karen E Fowler, Serene Jacob, Laura Dillon, Michelle Espiritu, Nathan Houchens, Huberta T Cozart, Barbara W Trautner Mar 2026

Comparing Observed With Self-Reported Hand Hygiene Adherence Among Bedside Nurses And Physicians At Two Hospitals In The United States, Prathit A Kulkarni, M Todd Greene, Sanjay Saint, Karen E Fowler, Serene Jacob, Laura Dillon, Michelle Espiritu, Nathan Houchens, Huberta T Cozart, Barbara W Trautner

Faculty, Staff and Students Publications

Background: Hand hygiene is a core component of infection prevention in healthcare settings. One potential reason for lack of adherence to recommended hand hygiene practices is erroneous self-perception. We aimed to compare perceptions about hand hygiene compliance with objective data.

Methods: Direct observations of hand hygiene performance by nurses and physicians during typical workflow in inpatient general medicine wards were conducted from 12 September 2022 to 27 October 2022 at two academic Veterans Affairs medical centers. Participants were surveyed regarding perceptions about their hand hygiene performance relative to recommended practices.

Results: Among nurses, hand hygiene was performed in 1,397/3,690 (37.9%) …


Predictive Validity Of The Obsessive-Compulsive Inventory-4 And Florida Obsessive-Compulsive Inventory-Ii Severity Scale, Eric A Storch, Ryan J Mccarty, Maya Zehavi, Mahnoor Ahmad, Vanessa Zavala Cruz, Dayan Berrones, Josselyn S Muñoz, Diana Obando, Servando Rodriguez Barajas, Renee M Frederick, Jacey L Anderberg, Hannah C Moore, Marcos E Ochoa-Panaifo, Mayra C Martinez Mallen, Ogechi C Onyeka, Andrew D Wiese, Melisa N Sagarnaga, Joseph F Mcguire, Ygor Arzeno Ferrão, Latin American Trans-Ancestry Initiative For Ocd Genomics (Latino), Wayne K Goodman, James J Crowley, Brazilian Obsessive-Compulsive Spectrum Disorder Working Group (Gttoc) Mar 2026

Predictive Validity Of The Obsessive-Compulsive Inventory-4 And Florida Obsessive-Compulsive Inventory-Ii Severity Scale, Eric A Storch, Ryan J Mccarty, Maya Zehavi, Mahnoor Ahmad, Vanessa Zavala Cruz, Dayan Berrones, Josselyn S Muñoz, Diana Obando, Servando Rodriguez Barajas, Renee M Frederick, Jacey L Anderberg, Hannah C Moore, Marcos E Ochoa-Panaifo, Mayra C Martinez Mallen, Ogechi C Onyeka, Andrew D Wiese, Melisa N Sagarnaga, Joseph F Mcguire, Ygor Arzeno Ferrão, Latin American Trans-Ancestry Initiative For Ocd Genomics (Latino), Wayne K Goodman, James J Crowley, Brazilian Obsessive-Compulsive Spectrum Disorder Working Group (Gttoc)

Faculty, Staff and Students Publications

Efficient and accurate screening tools are crucial for improving early identification and treatment outcomes among individuals with obsessive-compulsive disorder (OCD). This study evaluated the sensitivity and specificity of two OCD screening measures: the Obsessive-Compulsive Inventory-4 (OCI-4) and the Florida Obsessive-Compulsive Inventory-II (FOCI-II) severity scale. The measures were administered in a large transnational sample of Spanish speaking Latin American adults (N = 1696) with elevated obsessive-compulsive symptomatology. Participants completed diagnostic interviews (MINI and Y-BOCS) and self-report assessments across 23 sites in 11 countries. Both measures significantly distinguished OCD from non-OCD cases, with the FOCI-II demonstrating somewhat better predictive performance (AUC = …


Predominant Symptom In Gastroparesis: Relationships To Quality Of Life, Treatments, And Outcome, Henry P Parkman, Laura A Wilson, William L Hasler, Madhusudan Grover, Bruno P Chumpitazi, Helen Burton-Murray, Irene Sarosiek, Baha Moshiree, Geoffrey A Preidis, Robert J Shulman, Laura A Miriel, Dave Shade, Braden Kuo, Richard W Mccallum, Thomas L Abell, Pankaj J Pasricha Mar 2026

Predominant Symptom In Gastroparesis: Relationships To Quality Of Life, Treatments, And Outcome, Henry P Parkman, Laura A Wilson, William L Hasler, Madhusudan Grover, Bruno P Chumpitazi, Helen Burton-Murray, Irene Sarosiek, Baha Moshiree, Geoffrey A Preidis, Robert J Shulman, Laura A Miriel, Dave Shade, Braden Kuo, Richard W Mccallum, Thomas L Abell, Pankaj J Pasricha

Faculty, Staff and Students Publications

Background: Patients with gastroparesis (Gp) can have a variety of symptoms. Apart from use of prokinetics, symptomatic therapies for the predominant symptom (PrS) are used.

Aims: (1) To classify Gp patients based on their PrS; (2) To determine differences in Gp symptoms, gastric emptying (GE), quality of life (QOL), treatments, and symptom improvement among Gp patients with different PrS.

Methods: Gp patients were enrolled in a multicenter registry and followed for 96-weeks. Patients recorded their PrS and completed questionnaires assessing symptoms and QOL at enrollment and at follow up visits.

Results: Of 1013 Gp patients (361 diabetic, 607 idiopathic, 45 …


Nasopharyngeal Microbiome-Epigenome-Wide Association Analysis In Infants With Severe Bronchiolitis, Ryohei Shibata, Yijun Li, Anat Yaskolka Meir, Sara Javornik Cregeen, Matthew Clayton Ross, Janice A Espinola, Ashley F Sullivan, Liming Liang, Kohei Hasegawa, Carlos A Camargo, Zhaozhong Zhu Mar 2026

Nasopharyngeal Microbiome-Epigenome-Wide Association Analysis In Infants With Severe Bronchiolitis, Ryohei Shibata, Yijun Li, Anat Yaskolka Meir, Sara Javornik Cregeen, Matthew Clayton Ross, Janice A Espinola, Ashley F Sullivan, Liming Liang, Kohei Hasegawa, Carlos A Camargo, Zhaozhong Zhu

Faculty, Staff and Students Publications

Background: Bronchiolitis exposes infants to both acute burdens (e.g., hospitalization in cases of severe bronchiolitis) and increased risks for chronic respiratory sequelae (e.g., asthma). In severe bronchiolitis, recent evidence suggests distinct pathobiological roles of microbiota (e.g., viruses, bacteria) and host responses influenced by genetic and epigenetic factors. However, the relationship of airway microbiota with host DNA methylation (DNAm) in infants with severe bronchiolitis remains unknown.

Methods: In a multi-center prospective cohort of 504 multi-ethnic infants with severe bronchiolitis (age < 1 year), using nasopharyngeal microbiome (exposure) and blood DNAm (outcome, Infinium MethylationEPIC BeadChip, Illumina) data within 24 h of the hospitalization, we conducted microbiome-epigenome-wide association studies (mbEWAS). We examined microbiota-associated differentially methylated CpGs (mbDMCs, false discovery rate [FDR] < 0.05), regions (mbDMRs, FDR < 0.05), and DNAm age acceleration. We also determined the associations of DNAm age acceleration with asthma development by age 6 years. Furthermore, we focused on asthma-related pathogenic bacteria-Haemophilus influenzae, Moraxella catarrhalis, and Streptococcus pneumoniae-for functional analyses by examining serum mbDMR-related proteins (Proseek Multiplex, Olink) and their enriched pathways (FDR < 0.10).

Results: Across 23 common taxa-observed at least in 25% of the infants, we identified 1 mbDMC (S. pneumoniae, cg16594639, chr20: 39528675) …


Validation And Longitudinal Trajectory Analysis Of An Ai-Based Ecg Model For Aortic Stenosis: From Community Screening To Pre-Ta\Vr Risk Stratification, Matthew W Segar, Kaleb D Lambeth, Alexander Postalian, Stephanie Coulter, Jasen Gilge, Naveed Razvi, Mohammad Saeed, Robert D Paisley, Ambarish Pandey, Mehdi Razavi Mar 2026

Validation And Longitudinal Trajectory Analysis Of An Ai-Based Ecg Model For Aortic Stenosis: From Community Screening To Pre-Ta\Vr Risk Stratification, Matthew W Segar, Kaleb D Lambeth, Alexander Postalian, Stephanie Coulter, Jasen Gilge, Naveed Razvi, Mohammad Saeed, Robert D Paisley, Ambarish Pandey, Mehdi Razavi

Faculty, Staff and Students Publications

Aims: Early aortic stenosis (AS) detection remains challenging, with many patients presenting late when left ventricular dysfunction may be irreversible. We evaluated whether longitudinal AI-enhanced ECG patterns can predict outcomes years before intervention and assessed the community screening potential of the AK-AVS model.

Methods and results: We conducted two complementary analyses: (1) community validation of the AK-AVS model in 3632 cardiovascular disease-free ARIC participants, and (2) longitudinal trajectory analysis of 7860 ECGs from 2040 TAVR recipients collected up to 10 years pre-procedure. Unsupervised clustering identified distinct AK-AVS trajectories, with mortality associations assessed using Cox regression and net reclassification improvement. In …


Statistical Methods In Aging Research: Improving Current Practices And Embracing Emerging Approaches, Deependra K Thapa, Erik S Parker, Mounika Kandukuri, Xi Rita Wang, Thirupathi R Mokalla, Olivia C Robertson, Wasiuddin Najam, Andrew E Teschendorff, Andrew W Brown, John R Speakman, Yisheng Peng, Bernard S Gorman, Heping Zhang, Luis-Enrique Becerra-Garcia, Colby J Vorland, David B Allison Mar 2026

Statistical Methods In Aging Research: Improving Current Practices And Embracing Emerging Approaches, Deependra K Thapa, Erik S Parker, Mounika Kandukuri, Xi Rita Wang, Thirupathi R Mokalla, Olivia C Robertson, Wasiuddin Najam, Andrew E Teschendorff, Andrew W Brown, John R Speakman, Yisheng Peng, Bernard S Gorman, Heping Zhang, Luis-Enrique Becerra-Garcia, Colby J Vorland, David B Allison

Faculty, Staff and Students Publications

Aging research relies on varied statistical methods, and applying these methods appropriately is important for scientific rigor. However, proper use of these statistical techniques is a challenge. We discuss two categories of statistical methods in aging research: (a) emerging methods requiring further validation, including techniques to examine compression of morbidity, maximum lifespan, immortal time bias, molecular aging clocks, and treatment response heterogeneity, and (b) classic and existing methods needing reconsideration and improvement, such as stepwise regression, generalized linear models, methods for accounting for clustering and nesting effects, methods for testing for group differences, methods for mediation …


Validation Of Longitudinal Biomarker Screening Algorithms For Hcc Detection In Patients With Cirrhosis, Amit G Singal, Qingchun Jin, Jorge Marrero, Neehar D Parikh, Anna S Lok, Camden Lopez, Stephanie Page-Lester, Lewis R Roberts, Rajender Reddy, Michelle Luster, Saira Khaderi, Sumeet K Asrani, Hashem B El-Serag, Fasiha Kanwal, Ziding Feng, Nabihah Tayob Mar 2026

Validation Of Longitudinal Biomarker Screening Algorithms For Hcc Detection In Patients With Cirrhosis, Amit G Singal, Qingchun Jin, Jorge Marrero, Neehar D Parikh, Anna S Lok, Camden Lopez, Stephanie Page-Lester, Lewis R Roberts, Rajender Reddy, Michelle Luster, Saira Khaderi, Sumeet K Asrani, Hashem B El-Serag, Fasiha Kanwal, Ziding Feng, Nabihah Tayob

Faculty, Staff and Students Publications

Background: Blood-based biomarker panels, including GALAD, have been proposed as an alternative to abdominal ultrasound for hepatocellular carcinoma (HCC) surveillance. Studies suggest longitudinal evaluation of biomarkers can improve test performance; however, no large studies have validated these findings.

Methods: We leveraged the HCC Early Detection Strategy (HEDS) study (n=1019 patients with cirrhosis; 99 incident HCC) and Texas HCC Consortium (THCCC) (n=2345 patients with cirrhosis; 126 incident HCC) to compare the performance of fixed-threshold GALAD (cutoff of -1.36), and 4 longitudinal algorithms: longitudinal GALAD, PALAD, mFB-ALAD, and mPEB-ALAD. The HEDS cohort was used to derive longitudinal algorithms, and external validation was …


Development Of Retrieval-Augmented Generation-Based Large Language Model For Drug-Induced Liver Injury Using Livertox Data, Ashwin Rao, George Cholankeril, Avegail Flores, Gagan Sood, Terrence E White, Fasiha Kanwal, Hashem B El-Serag Mar 2026

Development Of Retrieval-Augmented Generation-Based Large Language Model For Drug-Induced Liver Injury Using Livertox Data, Ashwin Rao, George Cholankeril, Avegail Flores, Gagan Sood, Terrence E White, Fasiha Kanwal, Hashem B El-Serag

Faculty, Staff and Students Publications

Background: Idiosyncratic DILI is a complex clinical challenge requiring timely and accurate decision support. LiverTox, curated by the National Institute of Health (NIH), offers a comprehensive DILI evidence base, but its encyclopedia-like format hinders point-of-care use. Health care providers increasingly use general large language models (LLMs) for clinical care, raising safety concerns due to LLM hallucinations or misinformation. We hypothesize that retrieval-augmented generation (RAG) integration-grounding LLM responses in LiverTox content-would enable accurate DILI decision support.

Methods: We processed 1343 LiverTox drug monographs into 8759 indexed segments using BioBERT embeddings. We developed a RAG pipeline that employs drug-specific prioritization, section-aware weighting, …


Risk Factors For Acute Rejection In Pediatric Lung Transplantation And Its Impact On Graft Failure, Sophie Li, Spoorthi Kamepalli, David Moreno Mcneill, Selena Li, Abbas Rana Mar 2026

Risk Factors For Acute Rejection In Pediatric Lung Transplantation And Its Impact On Graft Failure, Sophie Li, Spoorthi Kamepalli, David Moreno Mcneill, Selena Li, Abbas Rana

Faculty, Staff and Students Publications

Background: Although acute rejection is a common complication of lung transplantation, few studies have analyzed risk factors for acute rejection in pediatric lung transplant patients. The purpose of this study was to examine risk and protective factors for acute rejection in pediatric lung transplantation and its impact on graft failure.

Methods: A retrospective analysis was performed on lung transplant data for a cohort of 906 pediatric patients from the Organ Procurement and Transplantation Network (OPTN) Database between October 1, 1987, and June 30, 2023. Multivariable logistic regression was conducted to identify risk and protective factors for acute rejection, adjusting for …


The Role Of Top-Down Appetite Self-Regulation In The Development Of Healthy Eating Behaviors Among Children: A Narrative Review And Socialization Framework, David J Bridgett, Sheryl O Hughes, Matthew Broussard, Daniela Mccourt, Christina M Croce, Jennifer O Fisher Mar 2026

The Role Of Top-Down Appetite Self-Regulation In The Development Of Healthy Eating Behaviors Among Children: A Narrative Review And Socialization Framework, David J Bridgett, Sheryl O Hughes, Matthew Broussard, Daniela Mccourt, Christina M Croce, Jennifer O Fisher

Faculty, Staff and Students Publications

Appetite self-regulation (ASR) among children is thought to have a fundamental role in shaping the development of healthy eating behaviors, dietary intake, and growth during childhood. Parallel to developmental frameworks for understanding "general" self-regulation among children, ASR has been described as involving children's use of "top-down" cognitive processes to moderate "bottom-up" biological drives around food approach and avoidance in the interest of achieving desired eating behaviors or outcomes. Whereas bottom-up ASR processes during early childhood are well characterized, particularly in the context of dysregulation and obesity risk, the role of top-down ASR processes in the development of healthy eating behaviors …


Concurrent Vulvar Vitiligo And Lichen Sclerosus: The Importance Of Melanocyte-Specific Immunostains In Resolving Diagnostic Ambiguity, Nabor S Mireles, Kaitlyn Levett, Annie Dai, Abdul Hafeez Diwan, Omid Jalali Mar 2026

Concurrent Vulvar Vitiligo And Lichen Sclerosus: The Importance Of Melanocyte-Specific Immunostains In Resolving Diagnostic Ambiguity, Nabor S Mireles, Kaitlyn Levett, Annie Dai, Abdul Hafeez Diwan, Omid Jalali

Faculty, Staff and Students Publications

Vitiligo and lichen sclerosus (LS) are autoimmune dermatoses that may share overlapping clinical and histopathologic features, posing diagnostic challenges when they occur concurrently. We report a biopsy-confirmed case of vulvar vitiligo and LS in a 61-year-old woman presenting with pruritic, depigmented patches on the labia majora and minora. Histopathologic examination showed epidermal thinning with papillary dermal hyalinization and a dense, band-like lymphocytic infiltrate consistent with LS. Melan-A immunostaining demonstrated a complete absence of epidermal melanocytes, confirming concurrent vitiligo rather than LS-related post-inflammatory hypopigmentation. This case underscores the importance of correlating subtle clinical clues with melanocyte-specific immunostains to distinguish coexistent vitiligo …


Rural-Urban Differences In Use Of Mental Health Care For Serious Mental Illness At The Veterans Health Administration: A Retrospective Cohort Analysis, Alexandra B Caloudas, Amber B Amspoker, Ashley Smith, Liang Chen, Amy K Cuellar, Giselle Day, Alexandra Zingg, Julianna Hogan, Jan A Lindsay Mar 2026

Rural-Urban Differences In Use Of Mental Health Care For Serious Mental Illness At The Veterans Health Administration: A Retrospective Cohort Analysis, Alexandra B Caloudas, Amber B Amspoker, Ashley Smith, Liang Chen, Amy K Cuellar, Giselle Day, Alexandra Zingg, Julianna Hogan, Jan A Lindsay

Faculty, Staff and Students Publications

PURPOSE: Rural Veterans with serious mental illness (SMI) encounter significant barriers to accessing mental health care, related to SMI symptoms and rurality. A 2023 Government Accountability Office report found that rural Veterans used Veterans Health Administration (VHA) intensive mental health care for SMI less than urban Veterans relative to their population distributions. Our purpose was to deepen understanding of rural-urban differences in use of VHA mental health care among Veterans with SMI.

METHODS: Using VHA databases, we conducted a retrospective cohort analysis of 387,477 Veterans diagnosed with SMI, examining rurality as a predictor of intensive care for SMI and other …


How Does Frailty Impact Peri-Operative And Speech Recognition Outcomes For Cochlear Implants In Veterans?, Kaitlyn A Brooks, Benjamin D Lovin, Alex D Sweeney, Angela S Peng, Nathan R Lindquist Mar 2026

How Does Frailty Impact Peri-Operative And Speech Recognition Outcomes For Cochlear Implants In Veterans?, Kaitlyn A Brooks, Benjamin D Lovin, Alex D Sweeney, Angela S Peng, Nathan R Lindquist

Faculty, Staff and Students Publications

Objective: To investigate the association of frailty with post-cochlear implant (CI) admission, morbidity, and CI-aided word recognition outcomes in veterans.

Study design: Retrospective cohort.

Setting: Single-institution tertiary care Veterans Health Administration (VHA) hospital.

Methods: Veterans who underwent cochlear implantation between 1998 to 2024 were included. The Modified 5-Item Frailty Index (mFI-5) score was used to characterize preoperative frailty. Outcomes of interest were admission from post-anesthesia care unit (PACU), relative risk (RR) of admission among frail patients, and relationship between frailty and post-CI word recognition score (WRS). Ordinal data were analyzed via logistic regression and Chi square tests; a multivariate linear …


External Validation Of Calculator For Cesarean Delivery During Induction Of Labor, Claudia J Ibarra, Rachel L Wiley, Han-Yang Chen, Estefania Guthrie, Ipsita Ghose, Hector Mendez-Figueroa, Suneet P Chauhan Mar 2026

External Validation Of Calculator For Cesarean Delivery During Induction Of Labor, Claudia J Ibarra, Rachel L Wiley, Han-Yang Chen, Estefania Guthrie, Ipsita Ghose, Hector Mendez-Figueroa, Suneet P Chauhan

Faculty, Staff and Students Publications

Objective: To validate a published risk calculator to predict cesarean delivery (CD) among singletons undergoing induction of labor.

Methods: Our retrospective cohort study included singletons undergoing induction of labor. A predicted CD score was calculated for each individual based on a previously developed calculator. External validation of the calculator was assessed by the discriminative power of the model by using the area under the receiver operating characteristic curve, and by a calibration curve. The score was categorized as less than 10%, 10% to less than 30%, and 30% or greater. The primary outcome was CD. The secondary outcomes were a …


Incidence Of Cancers Among Children Living With Hiv In Malawi After Widespread Availability Of Antiretroviral Therapy: A Population-Based Study, Casey L Mcatee, Fatsani Manase, William Kamiyango, Jimmy Villiera, Mark Zobeck, Joseph Mhango, Allison Silverstein, Samuel Maloya, Apatsa Matatiyo, Eluness Simwela, Honour Mhango, Desire Hellings, Brigid O'Brien, Claudia Wallrauch, Tom Heller, Matthew Painschab, Kate Westmoreland, Atupele Mpasa, Rizine Mzikamanda, Nmazuo Ozuah, Joseph Lubega, Nader Kim El-Mallawany, Carl E Allen, Michael E Scheurer Mar 2026

Incidence Of Cancers Among Children Living With Hiv In Malawi After Widespread Availability Of Antiretroviral Therapy: A Population-Based Study, Casey L Mcatee, Fatsani Manase, William Kamiyango, Jimmy Villiera, Mark Zobeck, Joseph Mhango, Allison Silverstein, Samuel Maloya, Apatsa Matatiyo, Eluness Simwela, Honour Mhango, Desire Hellings, Brigid O'Brien, Claudia Wallrauch, Tom Heller, Matthew Painschab, Kate Westmoreland, Atupele Mpasa, Rizine Mzikamanda, Nmazuo Ozuah, Joseph Lubega, Nader Kim El-Mallawany, Carl E Allen, Michael E Scheurer

Faculty, Staff and Students Publications

Purpose: Few data describe the modern epidemiology of pediatric HIV-associated cancers in sub-Saharan Africa, home to over 80% of the world's children living with HIV. This study evaluated the incidence of cancers among these children over 15 years after widespread antiretroviral therapy (ART) adoption in Malawi.

Methods: We conducted a retrospective population-based cohort study leveraging multiple independent data sources comprehensive of all cancer diagnoses among children living with HIV in Northern and Central Malawi between 2010 and 2024. HIV-associated cancers were defined as those cancers with well-established epidemiologic associations with HIV. Cumulative incidence and average annual percent change were estimated …


Communicating Across Languages: Experiences Of Spanish-Speaking People With Dementia And Care Partners In The Emergency Department, Anita N Chary, Victor Lara, Sumin Yoon, Annika R Bhananker, Edgar Ordoñez, Michelle I Suh, Manish N Shah Mar 2026

Communicating Across Languages: Experiences Of Spanish-Speaking People With Dementia And Care Partners In The Emergency Department, Anita N Chary, Victor Lara, Sumin Yoon, Annika R Bhananker, Edgar Ordoñez, Michelle I Suh, Manish N Shah

Faculty, Staff and Students Publications

No abstract provided.


Predicting Mortality And Costs After Emergency Department Visits By People With Dementia: Timing And Location Matter, Jason K Bowman, Christine S Ritchie, Kei Ouchi, Kyler M Godwin, James A Tulsky, Joan M Teno Mar 2026

Predicting Mortality And Costs After Emergency Department Visits By People With Dementia: Timing And Location Matter, Jason K Bowman, Christine S Ritchie, Kei Ouchi, Kyler M Godwin, James A Tulsky, Joan M Teno

Faculty, Staff and Students Publications

Background: People with dementia have high rates of emergency department (ED) and hospital utilization, high mortality and costs, and other poor outcomes. To successfully impact the care trajectories of these patients, health care systems must pragmatically identify the correct target population. This study described patterns of ED utilization by people with dementia and explored the accuracy of administrative data models to predict mortality and costs.

Methods: Retrospective cohort study of a 20% random sample of Traditional Medicare (TM) beneficiaries with dementia, age ≥ 66 years, and an index ED visit in 2018. One-year mortality and high costs were described, and …


Proteomic Signatures Of Cardiac Dysfunction Among People With Diabetes: The Atherosclerosis Risk In Communities Study, Justin B Echouffo-Tcheugui, Chiadi E Ndumele, Jingsha Chen, Mary R Rooney, Keenan A Walker, Pascal Schlosser, Kuni Matsushita, Morgan E Grams, Christie C Ballantyne, Ron C Hoogeveen, Eric Boerwinkle, Bing Yu, Amil M Shah, Ruth F Dubin, Rajat Deo, Yue Ren, Jerome I Rotter, Kent D Taylor, Wendy S Post, Peter Ganz, Elizabeth Selvin, Josef Coresh Mar 2026

Proteomic Signatures Of Cardiac Dysfunction Among People With Diabetes: The Atherosclerosis Risk In Communities Study, Justin B Echouffo-Tcheugui, Chiadi E Ndumele, Jingsha Chen, Mary R Rooney, Keenan A Walker, Pascal Schlosser, Kuni Matsushita, Morgan E Grams, Christie C Ballantyne, Ron C Hoogeveen, Eric Boerwinkle, Bing Yu, Amil M Shah, Ruth F Dubin, Rajat Deo, Yue Ren, Jerome I Rotter, Kent D Taylor, Wendy S Post, Peter Ganz, Elizabeth Selvin, Josef Coresh

Faculty, Staff and Students Publications

Background: To investigate the proteomic signatures of heart failure (HF) in diabetes. The underlying mechanisms of the elevated risk of HF in diabetes are unknown.

Methods: In 10 189 ARIC study (Atherosclerosis Risk in Communities) participants free of HF (mean age 57±7 years, 56% women, 22% Black adults, 14% with diabetes), we conducted discovery and internal validation for the associations of 4955 plasma proteins with HF by diabetes status. We performed (1) Cox regression to identify proteins associated with HF by diabetes status, (2) external validation in the MESA study (Multi-Ethnic Study of Atherosclerosis, n=5233, 633 with diabetes), and (3) …


Examining Sleep-Related Problems In Youth With Misophonia, Kevin M Wagner, Matti Cervin, Catherine E Rast, Mered Parnes, Nicholas Murphy, Samuel Spencer, Eric A Storch, Andrew G Guzick Mar 2026

Examining Sleep-Related Problems In Youth With Misophonia, Kevin M Wagner, Matti Cervin, Catherine E Rast, Mered Parnes, Nicholas Murphy, Samuel Spencer, Eric A Storch, Andrew G Guzick

Faculty, Staff and Students Publications

The relationship between misophonia and sleep-related problems (SRPs) in youth is underexplored. This paucity of research is concerning because SRPs might be elevated among youth with misophonia. If left untreated, SRPs can contribute to long-term health consequences. Thus, in this study we examined the link between misophonia and SRPs in youth aged 8 to 17. In this study, we compared SRPs in 102 children and adolescents with clinically significant misophonia to SRPs in a normative youth sample and a sample of 94 youth with anxiety disorders. We also examined the extent to which SRPs were associated with misophonia severity. Approximately …


The Impact Of Genetic Testing On Physician Practice In Specialized Cardiovascular Clinics, Arsalan Hamid, Tyler Sewell, Sucheta Bhatt, Scott Spencer, Damon Hostin, Ginger A Metcalf, Richard A Gibbs, Vijay Nambi, Layla A Abushamat, Christie M Ballantyne Mar 2026

The Impact Of Genetic Testing On Physician Practice In Specialized Cardiovascular Clinics, Arsalan Hamid, Tyler Sewell, Sucheta Bhatt, Scott Spencer, Damon Hostin, Ginger A Metcalf, Richard A Gibbs, Vijay Nambi, Layla A Abushamat, Christie M Ballantyne

Faculty, Staff and Students Publications

Background: Although familial hypercholesterolemia (FH) is a US Centers for Disease Control and Prevention tier 1 condition for genetic testing, the impact of testing on clinical outcomes is unclear.

Objective: We aimed to assess whether genetic testing alters lipid management in HeartCare participants.

Methods: For participants with pathogenic/likely pathogenic variants for FH observed at Baylor College of Medicine cardiology clinics, data on laboratory values, medication prescriptions, and diagnoses were collected and compared before and after genetic testing.

Results: In the 20 participants with APOB/LDLR variants and complete data, low-density lipoprotein cholesterol (LDL-C) was numerically lower but not significantly different before …


Toward Scientific Rigor: Setting Standards For Indirect Calorimetry Analysis And Reporting, Elizabeth L Lieu, Mark A Herman, Sean M Hartig Mar 2026

Toward Scientific Rigor: Setting Standards For Indirect Calorimetry Analysis And Reporting, Elizabeth L Lieu, Mark A Herman, Sean M Hartig

Faculty, Staff and Students Publications

Indirect calorimetry determines energy expenditure by measuring respiratory gas exchange. The approach is based on the principle that nutrient metabolism consumes O2 and produces CO2 and water in predictable ratios that can be compared with heat production. Due to the impracticality and high cost of direct calorimetry, indirect calorimetry is the major approach for modern metabolic studies in preclinical models. Despite the broad adoption of this method in rodent phenotyping, the field has lacked standardized methods for analyzing, representing, and sharing these data, limiting scientific progress. The recent review in Nature Metabolism by the International Indirect Calorimetry Consensus Committee (IICCC) …