Medicine and Health Sciences Commons^™

Responsive Neurostimulation In Children, Adolescents, And Young Adults-Longitudinal Effectiveness And Safety, Steven T Lee, Shital Patel, Cemal Karakas, Kimberly Houck, Cristina Trandafir, Matthew J Mcginley, Deepankar Mohanty, James J Riviello, Howard L Weiner, Daniel Curry, Irfan Ali

Faculty, Staff and Students Publications

Drug-resistant epilepsy (DRE) remains challenging to treat, and seizure control often fluctuates over time. Responsive neurostimulation (RNS) is increasingly used in pediatric and young adult populations, yet long-term effectiveness and safety data are limited. We evaluated longitudinal seizure control trajectories and safety of RNS in children, adolescents, and young adults treated at our center. Seizure frequency was assessed at approximately 6-month intervals from serial follow-up visits through the most recent follow-up, with each sampled visit categorized by ≥ 50 % (all-responder, AR) or ≥90 % (super-responder, SR) seizure reduction. We examined the persistence and durability of seizure control and used …

Defining The Society Of Pediatric Liver Transplantation (Split) Research Agenda: A Delphi Consensus Project, Sharad I Wadhwani, Pooja Reddy Spector, Amy G Feldman, Katryn N Furuya, Kayla Hartjes, Chaowapong Jarasvaraparn, Beau Kelly, Stacee M Lerret, Krupa Mysore, Arti Pawaria, Philip Rosenthal, Amy Shui, Voytek Slowik, Sarah Taylor, Jennifer Vittorio, Pamela L Valentino

Faculty, Staff and Students Publications

Background: Despite major advances in surgical and medical management, only one-third of pediatric liver transplant (LT) recipients remain morbidity-free at 10 years. The Society of Pediatric Liver Transplantation (SPLIT) published a research agenda over 10 years ago, and much progress has been made since then. An updated consensus-driven SPLIT research agenda could guide future research and funding priorities. We aimed to identify and prioritize key research needs across the continuum of pediatric LT care using a modified Delphi consensus approach.

Methods: We conducted a three-round modified Delphi process among SPLIT members. In round 1, participants submitted open-ended research priorities. In …

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. …

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 …

Interpretable Ensemble Machine Learning Prediction Of Nonadherence And The Risk Of Nonpersistence Of Targeted Disease-Modifying Antirheumatic Agents In Older Adults With Rheumatoid Arthritis, Yinan Huang, Sandeep K Agarwal

Faculty, Staff and Students Publications

Purpose: Ensemble machine learning (ML) demonstrated potential for improving predictions based on big health care data. We developed and validated interpretable ensemble ML models in evaluating the nonadherence and nonpersistence of biological or targeted synthetic disease-modifying antirheumatic drugs (b/tsDMARDs) in rheumatoid arthritis (RA).

Methods: This retrospective study used 5% Medicare claims data including older (aged ≥65 years) patients initiating b/tsDMARDs (the index date) between 2013 and 2019, who were diagnosed with RA (the International Classification of Diseases, Ninth and Tenth revision codes). Nonadherence, defined as medication possession ratio < 80%, was evaluated during the 12-month follow-up. Nonpersistence was defined as duration (in days) from the index date until treatment gap ≥60 days during the follow-up period, with death and insurance disenrollment as censoring criteria. Data were split into 75% for model training and 25% for evaluation, with patients' demographics and clinical characteristics measured in the baseline period. Machine learning ensemble classification models (random forest, eXtreme Gradient Boosting [XGBoost], and prediction rule ensembles [PRE]) evaluated the binary nonadherence outcome and ML ensemble survival models (random survival forest, XGBoost survival, and PRE survival) assessed time until nonpersistence. Using the testing cohort, concordance index (C-index) was reported for the ML survival models and AUC was reported for ML classification models.

Findings: We identified 3927 eligible patients with RA (mean age 73 ± …

Simulation-Free Spine Palliative Radiotherapy Enabled By Ai-Adapted Diagnostic Ct, Yiding Han, Alexander Nicola Hanania, Zaid Ali Siddiqui, Vincent Ugarte, Boran Zhou, Abdallah S R Mohamed, Piyush Pathak, Daniel Allen Hamstra, Baozhou Sun

Faculty, Staff and Students Publications

Background: Radiotherapy planning traditionally requires a dedicated simulation CT (sCT), which can introduce delays in initiating treatment. This is particularly impactful in spinal palliative care, where timely treatment is often important for symptom control and prevention of neurological deterioration. Although diagnostic CT (dCT) is frequently available earlier in the workflow, it can lead to geometric and dosimetric inaccuracies when used directly for treatment planning due to discrepancies in patient positioning, vertebral alignment, and table curvature.

Purpose: To develop and evaluate an AI-based method that transforms dCT into a simulation-equivalent planning CT (AI-pCT), enabling a clinically feasible simulation-free workflow for spinal …

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 …

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

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, …

The Evolving Therapeutic Landscape Of Pcsk9 Inhibition, Brett S Mansfield, Yakubu Bene-Alhasan, Christie M Ballantyne, Frederick J Raal

Faculty, Staff and Students Publications

Cardiovascular disease remains the leading cause of death worldwide with low density lipoprotein being a major, yet modifiable, risk factor. Proprotein convertase subtilisin/kexin type 9 (PCSK9) plays a central role in regulating low density lipoprotein (LDL) receptor expression. Naturally occurring loss-of-function variants in the PCSK9 gene result in lifelong lower LDL cholesterol (LDL-C) levels and significantly lower risk of atherosclerotic cardiovascular disease (ASCVD), providing strong genetic validation of PCSK9 as a therapeutic target. This insight has driven the development of therapies directed at PCSK9 for the management of hypercholesterolaemia, particularly in patients who fail to meet LDL-C targets despite maximally …

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 …

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) …

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) …

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%) …

Rounding Styles On Inpatient Infectious Disease Consult Services: Impact On Education And Patient-Care Delivery, Melanie Kiener, Vanessa Ku, Prathit A Kulkarni

Faculty, Staff and Students Publications

Inpatient infectious disease (ID) consult services have recently been experiencing increased patient volumes due to a variety of factors, including higher patient complexity, increased patient turnover, growing rates of antimicrobial resistant infections, population aging, and ID outbreaks. As a result, increased time and resources have been required to continue to deliver high-quality medical care to patients. At academic teaching hospitals, providing patient care in the context of increased volumes must be balanced with the educational mission for trainees. Rounding is a central component of ID clinical work which brings together patient care and education. In this narrative review, we aim …

Comparison Of Opioid Utilization In Older Adults With Rheumatoid Arthritis Before And After Initiating Biological Or Targeted Synthetic Disease-Modifying Antirheumatic Drugs, Yinan Huang, Shadi Bazzazzadehgan, Liang-Yuan Lin, Omkar Ghodke, Sebastian Bruera, Kaustuv Bhattacharya, Sujith Ramachandran, John P Bentley, Sandeep K Agarwal, Yi Yang

Faculty, Staff and Students Publications

Introduction: Opioid use is common in rheumatoid arthritis (RA) for pain management; however, evidence of opioid-associated adverse events is increasing. While biological (b) or targeted synthetic (ts) disease-modifying antirheumatic drugs (DMARDs) improve functional outcomes such as pain, little is known about their impact on opioid utilization patterns. This study investigated opioid utilization before and after b/tsDMARD initiation and assessed effect modification by sex.

Methods: Using 5% Medicare claims data from 2012 to 2020, this cohort study included older adults (≥ 65 years) with RA who initiated b/tsDMARDs (first prescription = index date), and had continuous Medicare Parts A, B, and …

Sex Differences In Hospitalizations In The 6 Months Before A Diagnosis Of Transthyretin Amyloid Cardiomyopathy, Chun Shing Kwok, Adnan I Qureshi, Richard P Steeds, Gregg C Fonarow, Biykem Bozkurt, Marianna Fontana, Julian D Gillmore, William E Moody

Faculty, Staff and Students Publications

Background: The influence of sex on the extent of missed opportunities for early diagnosis of transthyretin amyloid cardiomyopathy (ATTR-CM) has not been characterized.

Objectives: The objective of the study was to determine the rate and causes of hospitalization preceding the index admission with ATTR-CM, stratifying analyses according to sex.

Methods: We conducted a retrospective cohort study of the National Readmissions Database to evaluate the 6-month hospitalizations preceding an index admission with a diagnosis of ATTR-CM.

Results: Between 2018 and 2020, there were 10,975 patients hospitalized with ATTR-CM of whom 4,545 (41.1%) had 1 or more hospital admission within the preceding …

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 …

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 …

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 …

Impulsivity In Cerebellar Ataxia: An Online, Multidimensional Assessment, Brooke Chasalow, Yakov Flaumenhaft, Yael De Picciotto, Chi-Ying R Lin, Leila Montaser-Kouhsari, William Saban

Faculty, Staff and Students Publications

While considered a motor control structure, the cerebellum contributes to non-motor functions, including impulsivity. However, whether it contributes to impulsivity in a domain-specific manner remains unknown. Studies on cerebellar ataxia (CA), a common model for cerebellar dysfunction, typically have small sample sizes, limiting robustness. In a multicenter cross-sectional study, we investigated the cerebellum's role in various forms of impulsivity by comparing large cohorts of CA to age- and education-matched neurotypical healthy (NH) controls. Additionally, to examine the ability to identify individuals with CA using impulsivity features alone, we developed supervised machine learning (ML) models. In experiment 1 (CA = 140, …

Pharmacodynamics, Efficacy, And Safety Of Intraputaminal Eladocagene Exuparvovec Administered To Pediatric Patients With Aromatic L-Amino Acid Decarboxylase Deficiency Using An Mr-Compatible Cannula: 48 Weeks Of Follow-Up, Daniel J Curry, Phillip L Pearl, Scellig S D Stone, Donald L Gilbert, Sudhakar Vadivelu, Bruria Ben-Zeev, Matthew Vestal, Muhammad Zafar, Chun-Hwei Tai, Sheng-Che Chou, Zion Zibly, Lior Ungar, Mered Parnes, Mariam Hull, Lisa Emrick, Christian Werner, Alexis Krolick, Vinay Penematsa, Antonia Wang, Rezwanur Rahman, Lee Golden, Yin-Hsiu Chien, Paul Wuh-Liang Hwu

Faculty, Staff and Students Publications

Aromatic ʟ‐amino acid decarboxylase (AADC) deficiency is a rare pediatric neurotransmitter disorder that typically necessitates lifelong care, and that carries a risk of childhood mortality. Eladocagene exuparvovec gene therapy is designed to restore AADC production. Study GT‐002 (NCT04903288) is a phase 2, multicenter, open‐label trial assessing the pharmacodynamics, safety, and efficacy of eladocagene exuparvovec administered to the putamen bilaterally in pediatric patients with AADC deficiency using a magnetic resonance (MR)‐compatible cannula. Patients received eladocagene exuparvovec at 1.8 × 1011 vector genomes via the SmartFlow MR‐compatible cannula in a single operative session. Endpoints include the change from baseline in …

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 …

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 …

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 …

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, …

Lower Gyrification Of The Ventromedial Prefrontal Cortex In Posttraumatic Stress Disorder: An Enigma-Ptsd Study., Ahmed Hussain, C Lexi Baird, Ashley A Huggins, Courtney C Russell, Delin Sun, Leonel Rangel-Jimenez, Chadi G Abdallah, Michael Angstadt, Geoffrey May, Hannah Berg, Jennifer U Blackford, Josh Cisler, Judith K Daniels, Nicholas D Davenport, Richard J Davidson, Maria Densmore, Seth G Disner, Wissam El-Hage, Amit Etkin, Negar Fani, Jessie L Frijling, Evan M Gordon, Daniel W Grupe, Ryan A Herringa, Julia I Herzog, David Hofmann, Anna R Hudson, Tanja Jovanovic, Anthony King, Saskia B J Koch, Ruth A Lanius, Amit Lazarov, Gen Li, Israel Liberzon, Shmuel Lissek, Guangming Lu, Antje Manthey, Adi Maron-Katz, Katie A Mclaughlin, Sven C Mueller, Laura Nawijn, Steven M Nelson, Yuval Neria, Richard W J Neufeld, Jack B Nitschke, Bunmi O Olatunji, Miranda Olff, Matthew Peverill, Rongfeng Qi, Yann Quidé, Orren Ravid, Ivan Rektor, Kerry J Ressler, Pavel Říha, Marisa Ross, Kelly Sambrook, Christian Schmahl, Anika Sierk, Scott R Sponheim, Jennifer S Stevens, Thomas Straube, Benjamin Suarez-Jimenez, Jean Théberge, Nic J A Van Der Wee, Steven J A Van Der Werff, Sanne J H Van Rooij, Mirjam Van Zuiden, Dick J Veltman, Robert R J M Vermeiren, Henrik Walter, Li Wang, Xi Zhu, Ye Zhu, Sigal Zilcha-Mano, Neda Jahanshad, Paul M Thompson, Rajendra A Morey

Faculty, Staff and Students Publications

Background: Cortical gyrification involves the formation of folds in the cerebral cortex, coinciding with key neurodevelopmental processes. Its strong correlation with increased cortical surface area and decreased cortical thickness may improve cortical signaling efficiency by decreasing cortico-cortical distance. Differences in brain structure have been found in posttraumatic stress disorder (PTSD), yet few small studies have examined cortical gyrification.

Methods: Gyrification was quantified using FreeSurfer's Local Gyrification Index (lGI), derived from 3-dimensional T1-weighted volumetric brain magnetic resonance imaging in 1876 participants (PTSD n = 789, control n = 1087) across 24 sites from the ENIGMA-PGC (Enhancing Neuro Imaging Genetics through Meta-Analysis …

Lean On Me: Social Factors And Diabetes Outcomes Among Young Adults With Type 1 Diabetes Prior To Transitioning To Adult Care, Caroline M Roberts, Samantha A Carreon, Charles G Minard, Sarah K Lyons, Randi Streisand, Barbara J Anderson, Tricia S Tang, Siripoom Mckay, Katherine Gallagher, Sridevi Devaraj, Marisa E Hilliard

Faculty, Staff and Students Publications

Aims: Little is known about how different aspects of social relationships relate to diabetes self-management and glycaemic outcomes in young adults with type 1 diabetes (T1D). We examined relationships of general and diabetes-specific social variables with diabetes self-management and HbA1c. We hypothesized diabetes-specific factors would more strongly associate with self-management and HbA1c than general social factors.

Methods: We analysed baseline data from 100 young adults with T1D (Mage = 19.9 ± 1.3 years) enrolled in a randomized controlled trial of a paediatric to adult care transition intervention. We examined associations of self-reported general and diabetes-specific social factors with self-reported self-management …

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 …

Hes V2.0 Validation And Performance Compared To Galad And Asap In The Heds Cohort, Hashem B El-Serag, Camden Lopez, Michelle Luster, K Rajender Reddy, Neehar Parikh, Amit G Singal, Jorge A Marrero, Aaron P Thrift, Jagpreet Chhatwal, Ziding Feng, Stephanie Page-Lester, Qingchun Jin, Nabihah Tayob, Fasiha Kanwal

Faculty, Staff and Students Publications

Background & aims: We previously developed HES V2.0, a biomarker panel (age, ALT, platelets, etiology, AFP, AFP-L3, DCP, and their 1-year gradients) for early detection of hepatocellular carcinoma (HCC) among patients with cirrhosis. We externally validated HES V2.0 and compared its performance with HES V1.0, GALAD, and ASAP.

Methods: We conducted a PRoBE (prospective specimen-collection, retrospective blinded-evaluation) cohort study in the HEDS (Hepatocellular Carcinoma Early Detection Strategy) cohort of 1,485 patients with cirrhosis, of whom 119 developed HCC. Patient- and test-level true positive rates (TPR) for HCC were calculated at 6, 12, and 24 months before diagnosis, using thresholds at …