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Evaluating The Health Economic Impacts Of Baloxavir Marboxil And Oseltamivir For The Treatment Of Influenza In Adult Outpatients In Hong Kong: A Cost-Effectiveness Analysis, Zhanwei Du Mar 2026

Evaluating The Health Economic Impacts Of Baloxavir Marboxil And Oseltamivir For The Treatment Of Influenza In Adult Outpatients In Hong Kong: A Cost-Effectiveness Analysis, Zhanwei Du

Faculty, Staff and Student Publications

Background: Baloxavir marboxil, an antiviral used only in private hospitals in Hong Kong since February 2019 for treating influenza, is recognized for its efficacy against strains resistant to standard antiviral agents, providing an alternative to neuraminidase inhibitors such as oseltamivir.

Methods: This study compares the cost-effectiveness of baloxavir and oseltamivir for influenza treatment in otherwise healthy (OwH) and high-risk (HR) adult outpatients in Hong Kong from the healthcare-payer's perspective. A decision tree was utilized to study the progression of influenza and estimate associated costs and quality-adjusted life-years (QALYs) over 14 days for each antiviral.

Findings: In the general population, the …


Apoe And Plasma Ad Biomarkers: The Role Of Genetic Ancestry In Hispanics/Latinos, Kevin A Gonzalez, Robert C Kaplan, Xihao Li, Freddie Márquez, Humberto Parada, Krista M Perreira, Alberto R Ramos, Tatjana Rundek, Wassim Tarraf, Fernando D Testai, Charles Decarli, Hector M González, Tamar Sofer Mar 2026

Apoe And Plasma Ad Biomarkers: The Role Of Genetic Ancestry In Hispanics/Latinos, Kevin A Gonzalez, Robert C Kaplan, Xihao Li, Freddie Márquez, Humberto Parada, Krista M Perreira, Alberto R Ramos, Tatjana Rundek, Wassim Tarraf, Fernando D Testai, Charles Decarli, Hector M González, Tamar Sofer

Faculty, Staff and Student Publications

Background: Apolipoprotein E (APOE) alleles are well-established genetic risk factors for Alzheimer's disease (AD), but their effects on AD biomarkers (amyloid beta [Aβ]42/40, phosphorylated tau [p-tau]181, neurofilament light chain [NfL], and glial fibrillary acidic protein [GFAP]) may vary across populations due to ancestry-, age-, and sex-related differences. We hypothesized that these effects vary across Hispanic/Latino background groups with distinct ancestral admixture.

Methods: We analyzed ε2 and ε4 allele associations with AD biomarkers using survey-weighted linear regression models, adjusting for demographic covariates. Secondary analyses examined genetic analysis group- and ancestry-specific effects.

Results: ε4 was associated with lower Aβ42/40 and higher p-tau181and …


Preferences For Game-Based Elements To Increase Preexposure Prophylaxis And Hiv Prevention Engagement Among Latino Men Who Have Sex With Men: South Florida, 2022, Susanne Doblecki-Lewis, Mariano Kanamori Mar 2026

Preferences For Game-Based Elements To Increase Preexposure Prophylaxis And Hiv Prevention Engagement Among Latino Men Who Have Sex With Men: South Florida, 2022, Susanne Doblecki-Lewis, Mariano Kanamori

Faculty, Staff and Student Publications

We explored gaming elements as a tool to promote engagement in HIV prevention services among Latino men who have sex with men. We conducted thematic content analysis of semistructured interview data that we collected from 12 Latino men who have sex with men (April-August 2022) in South Florida. Themes emerged related to intervention delivery, components, and perceptions. Our findings will guide the development of a game-based intervention to improve preexposure prophylaxis and HIV prevention engagement among Latino men who have sex with men.


Testing And Evaluation Of Generative Large Language Models In Electronic Health Record Applications: A Systematic Review, Ya-Wen Chuang, Yiming Li, Richard Yang, Wenyu Zhang, Xinyi Wang, Xinyu Chen, Hao Guan, John Lian, Pengyu Hong, David W Bates, Li Zhou Mar 2026

Testing And Evaluation Of Generative Large Language Models In Electronic Health Record Applications: A Systematic Review, Ya-Wen Chuang, Yiming Li, Richard Yang, Wenyu Zhang, Xinyi Wang, Xinyu Chen, Hao Guan, John Lian, Pengyu Hong, David W Bates, Li Zhou

Faculty, Staff and Students Publications

           Background: The use of generative large language models (LLMs) with electronic health record (EHR) data is rapidly expanding to support clinical and research tasks. This systematic review characterizes the clinical fields and use cases that have been studied and evaluated to date.

Methods: We followed the Preferred Reporting Items for Systematic Review and Meta-Analyses guidelines to conduct a systematic review of articles from PubMed and Web of Science published between January 1, 2023, and November 9, 2024. Studies were included if they used generative LLMs to analyze real-world EHR data and reported quantitative performance evaluations. Through data extraction, we identified …


Relationship Between Heart Rate Variability And Sleep Among Girls And Boys With Abdominal Pain-Related Disorders Of Gut-Brain Interaction, 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, 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 …


Biomimetic And Bioinspired Materials: Design Strategies, Mechanical Properties, And Engineering Applications-A Review, Vijaya Prakash Balasubramanian, Manivannan Jayamani, Subramanian Lakshmi Sankar, Karthikayan Sundararajan, Gokulkumar Sivanantham, Syed Kashif Ali, Murugesan Palaniappan, Mezigebu Belay, Mohamed Abbas Mar 2026

Biomimetic And Bioinspired Materials: Design Strategies, Mechanical Properties, And Engineering Applications-A Review, Vijaya Prakash Balasubramanian, Manivannan Jayamani, Subramanian Lakshmi Sankar, Karthikayan Sundararajan, Gokulkumar Sivanantham, Syed Kashif Ali, Murugesan Palaniappan, Mezigebu Belay, Mohamed Abbas

Faculty, Staff and Students Publications

The field of biomimetic and bioinspired materials has progressed rapidly by drawing inspiration from nature's intricate structures and multifunctional systems in order to address pressing challenges in modern engineering. This review critically examines the mechanical performance of these materials, focusing on their hierarchical design principles, synthesis strategies, and versatility of application. Natural exemplars such as nacre, spider silk, and bone are emphasized, as their structural efficiency and functional adaptability have informed the development of synthetic analogues with superior strength, toughness, flexibility, and lightweight characteristics. The review also highlights advanced fabrication methods, such as additive manufacturing and precision chemical synthesis, which …


Mri Suspicious Lesions In Patients Under Active Surveillance Do Systematic Biopsies Still Add Value?, Natasha Oppenheim, Ron Marom, Yotam Veredgorn, Haim Herzberg, Snir Dekalo, Gal Keren-Paz, Roy Mano, Ofer Yossepowitch Mar 2026

Mri Suspicious Lesions In Patients Under Active Surveillance Do Systematic Biopsies Still Add Value?, Natasha Oppenheim, Ron Marom, Yotam Veredgorn, Haim Herzberg, Snir Dekalo, Gal Keren-Paz, Roy Mano, Ofer Yossepowitch

Faculty, Staff and Students Publications

Introduction: Active surveillance (AS) requires regular monitoring to detect disease progression. Multiparametric magnetic resonance imaging (mpMRI) and targeted biopsies are commonly used to identify clinically significant prostate cancer (csPC) in AS patients, yet their diagnostic value remains unclear among this population.

Methods: We conducted a retrospective study of patients who underwent mpMRI followed by combined prostate biopsies between 2017 and 2022. Patients were categorized into AS and non-AS groups. We compared the diagnostic yield of mpMRI suspicious Prostate Imaging-Reporting & Data System (PI-RADS) 3-5 lesions using comparisons of PI-RADS score distribution and detection rates of csPC from targeted biopsies between …


Simulation-Free Spine Palliative Radiotherapy Enabled By Ai-Adapted Diagnostic Ct, Vincent Ugarte, Boran Zhou, Abdallah S R Mohamed, Piyush Pathak, Daniel Allen Hamstra, Baozhou Sun Mar 2026

Simulation-Free Spine Palliative Radiotherapy Enabled By Ai-Adapted Diagnostic Ct, 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 …


Cardiac Catheterization In American Indian/Alaska Native Populations: Empowering Communities, Providers, And Systems Toward Equity, Lindsay F Eilers, Athar M Qureshi, Christine J Chung, Jason F Deen Mar 2026

Cardiac Catheterization In American Indian/Alaska Native Populations: Empowering Communities, Providers, And Systems Toward Equity, Lindsay F Eilers, Athar M Qureshi, Christine J Chung, Jason F Deen

Faculty, Staff and Students Publications

American Indian/Alaska Native (AI/AN) people face numerous health disparities, including alarming rates of cardiovascular morbidity and mortality. These inequities are closely tied to unique social, political, and economic circumstances due to the ongoing consequences of systemic racism. Although poorly described, these cardiovascular inequities extend to adult and pediatric interventional cardiology. AI/AN adults are less likely to undergo cardiac catheterization and are more likely to experience complications. There are no published studies on pediatric interventional cardiology outcomes in AI/AN children. The scarcity of available data underscores the need for novel studies to investigate the epidemiology, sociodemographic associations, and outcomes of AI/AN …


Predictive Validity Of The Obsessive-Compulsive Inventory-4 And Florida Obsessive-Compulsive Inventory-Ii Severity Scale, 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, 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 = …


Incidence Of Cancers Among Children Living With Hiv In Malawi After Widespread Availability Of Antiretroviral Therapy: A Population-Based Study, 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, 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, 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, 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, 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, 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 …


Testing And Evaluation Of Generative Large Language Models In Electronic Health Record Applications: A Systematic Review, Ya-Wen Chuang, Yiming Li, Richard Yang, Wenyu Zhang, Xinyi Wang, Xinyu Chen, Hao Guan, John Lian, Pengyu Hong, David W Bates, Li Zhou Mar 2026

Testing And Evaluation Of Generative Large Language Models In Electronic Health Record Applications: A Systematic Review, Ya-Wen Chuang, Yiming Li, Richard Yang, Wenyu Zhang, Xinyi Wang, Xinyu Chen, Hao Guan, John Lian, Pengyu Hong, David W Bates, Li Zhou

Faculty, Staff and Students Publications

Background: The use of generative large language models (LLMs) with electronic health record (EHR) data is rapidly expanding to support clinical and research tasks. This systematic review characterizes the clinical fields and use cases that have been studied and evaluated to date.

Methods: We followed the Preferred Reporting Items for Systematic Review and Meta-Analyses guidelines to conduct a systematic review of articles from PubMed and Web of Science published between January 1, 2023, and November 9, 2024. Studies were included if they used generative LLMs to analyze real-world EHR data and reported quantitative performance evaluations. Through data extraction, we identified …


Defining The Society Of Pediatric Liver Transplantation (Split) Research Agenda: A Delphi Consensus Project, 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 Mar 2026

Defining The Society Of Pediatric Liver Transplantation (Split) Research Agenda: A Delphi Consensus Project, 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 …


Validation And Longitudinal Trajectory Analysis Of An Ai-Based Ecg Model For Aortic Stenosis: From Community Screening To Pre-Ta\Vr Risk Stratification, 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, 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 …


Development Of Retrieval-Augmented Generation-Based Large Language Model For Drug-Induced Liver Injury Using Livertox Data, 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, 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, …


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, 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 Mar 2026

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, 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 …


Segmental And Multifocal Isolated Dystonias: Similarities And Differences, 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, 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, …


The Diagnostic Performance Of The Basic Versus The Detailed Telomere Flow Fish Test In Young Patients With Aplastic Anaemia, Hannah L Helber, Ghadir S Sasa, Alison A Bertuch Mar 2026

The Diagnostic Performance Of The Basic Versus The Detailed Telomere Flow Fish Test In Young Patients With Aplastic Anaemia, Hannah L Helber, Ghadir S Sasa, Alison A Bertuch

Faculty, Staff and Students Publications

Identifying telomere biology disorders (TBDs) in patients with aplastic anaemia (AA) is essential for guiding appropriate care. Telomere length (TL) measurement by flow cytometry with fluorescence in situ hybridization supports diagnosis, but the real-world performance of the basic test (lymphocytes and granulocytes) versus the detailed test (which includes four lymphocyte subsets) remains unclear. We retrospectively reviewed 439 patients who underwent detailed TL testing at our institution from 2008 to 2022. Haematological disease was present in 87%, with AA comprising 56%. We classified 23 subjects with TBD independently of TL, only one of whom had severe AA (SAA) at initial presentation. …


Impulsivity In Cerebellar Ataxia: An Online, Multidimensional Assessment, Chi-Ying R Lin, Leila Montaser-Kouhsari, William Saban Mar 2026

Impulsivity In Cerebellar Ataxia: An Online, Multidimensional Assessment, 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, …


The Impact Of Genetic Testing On Physician Practice In Specialized Cardiovascular Clinics, 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, 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 …


Examining Sleep-Related Problems In Youth With Misophonia, Mered Parnes, Nicholas Murphy, Samuel Spencer, Eric A Storch, Andrew G Guzick Mar 2026

Examining Sleep-Related Problems In Youth With Misophonia, 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 …


Hyperpolypharmacy And Readmission Risk Among Medicare Beneficiaries: The Role Of Postdischarge Care, Robert O Morgan Mar 2026

Hyperpolypharmacy And Readmission Risk Among Medicare Beneficiaries: The Role Of Postdischarge Care, Robert O Morgan

Faculty, Staff and Student Publications

Objectives: Medication reconciliation post discharge may reduce readmission risk in populations with multimorbidity and polypharmacy. We aimed to evaluate the association between hyperpolypharmacy and 30-day readmissions; determine the impact of postdischarge care on 30-day readmissions; and identify interactions among hyperpolypharmacy, postdischarge care, and 30-day readmissions in 2 Medicare populations: individuals 65 years and older and individuals of any age with a qualifying disability.

Study design: Retrospective observational study using the 5% national sample Medicare fee-for-service claims data from 2016 to 2019.

Methods: We used descriptive statistics and generalized estimating equation models adjusted for covariates to assess the relationships among hyperpolypharmacy, …


Brief Report: Long-Acting Injectable Prep Can Substantially Reduce Hiv Incidence In Los Angeles County: A Simulation Study, Anna Hotton, Siri Chirumamilla, Ekow Kwa Sey, Nina T Harawa Mar 2026

Brief Report: Long-Acting Injectable Prep Can Substantially Reduce Hiv Incidence In Los Angeles County: A Simulation Study, Anna Hotton, Siri Chirumamilla, Ekow Kwa Sey, Nina T Harawa

Faculty, Staff and Student Publications

Background: Although oral pre-exposure prophylaxis (PrEP) has been instrumental in decreasing HIV incidence, its daily dosing regimen poses adherence challenges. Using an agent-based network model informed by empirical data, we simulate the impact of introducing long-acting injectable (LAI) PrEP among young Black men who have sex with men (YBMSM) in Los Angeles County, a group disproportionately affected by HIV.

Setting: Computer simulations using an agent-based network model.

Methods: We modeled HIV transmission among YBMSM over 10 years under scenarios varying the proportion of PrEP users opting for LAI instead of oral medications and adherence levels to LAI retention. The model …


Associations Of Moderate-To-Vigorous Physical Activity Timing With Type 2 Diabetes Incidence In Uk Biobank And Prevalent Glycemic Measures In Nhanes, Heming Wang, Martin K Rutter, Charles E Matthews, Joshua R Freeman, Ko Willems Van Dijk, Diana Van Heemst, Raymond Noordam Mar 2026

Associations Of Moderate-To-Vigorous Physical Activity Timing With Type 2 Diabetes Incidence In Uk Biobank And Prevalent Glycemic Measures In Nhanes, Heming Wang, Martin K Rutter, Charles E Matthews, Joshua R Freeman, Ko Willems Van Dijk, Diana Van Heemst, Raymond Noordam

Faculty, Staff and Student Publications

Objective: We assessed the association between timing of moderate-to-vigorous physical activity (MVPA) with incident type 2 diabetes (T2D) and glycemic measures.

Research design and methods: Regression models were used to assess associations between accelerometer-derived MVPA timing and incident T2D in UK Biobank (UKB) (n = 84,528, prospective), prevalent diabetes, and glycemic measures in the National Health and Nutrition Examination Survey (NHANES) (n = 6,998, cross-sectional).

Results: In UKB, with early morning (0500-0959) MVPA as reference and before adjustment for total MVPA, "variable-timing" MVPA was associated with the lowest incident T2D risk; while after adjustment, afternoon-evening MVPA (1500-2400) showed the lowest …


The Role Of Top-Down Appetite Self-Regulation In The Development Of Healthy Eating Behaviors Among Children: A Narrative Review And Socialization Framework, 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, 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 …


Clinical Outcomes Following Stereotactic Mri-Guided Laser Ablation In Children With Tuberous Sclerosis Complex And Intractable Epilepsy, 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, 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 …


Linkage Disequilibrium Score Regression Identifies Genetic Correlations Between Hepatocellular Carcinoma And Clinically Relevant Traits, 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, 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, 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, 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 …