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Strategies And Challenges For The Recruitment Of Young Healthy Participants In The Dietary Approaches To Longevity And Health (Dial Health) Pilot Trial, Hannah E Cabre, Courtney M Peterson, Gareth R Dutton, Kimberly L Drews, Stephanie T Broyles, Robert Dubin, Laura Q Rogers, Catherine Champagne, Dennis T Villareal, Daniel S Hsia, Leanne M Redman, Corby K Martin Jan 2026

Strategies And Challenges For The Recruitment Of Young Healthy Participants In The Dietary Approaches To Longevity And Health (Dial Health) Pilot Trial, Hannah E Cabre, Courtney M Peterson, Gareth R Dutton, Kimberly L Drews, Stephanie T Broyles, Robert Dubin, Laura Q Rogers, Catherine Champagne, Dennis T Villareal, Daniel S Hsia, Leanne M Redman, Corby K Martin

Faculty, Staff and Students Publications

Background: Understanding the impact of nutrition on human aging requires long-term trials in young, healthy, unmedicated adults. As part of the Dietary Approaches for Longevity and Health (DiAL Health) pilot project, we evaluated strategies for recruiting this population for aging-related dietary intervention studies.

Methods: We analyzed recruitment costs to enroll 70 participants (ages 25-49, BMI 22.0-29.9 kg/m2) across two DiAL Health sites and used NHANES data (2017-March 2020) to estimate the proportion of U.S. adults meeting partial trial eligibility. Additionally, a formative study surveyed 492 U.S. adults (≥18 years) to assess interest in aging-focused dietary trials.

Results: Of 2049 applicants …


Differences In Gene Expression May Contribute To The Racial Differences In The Risk Of Masld, Ivan P Gorlov, Olga Y Gorlova, Aaron P Thrift Jan 2026

Differences In Gene Expression May Contribute To The Racial Differences In The Risk Of Masld, Ivan P Gorlov, Olga Y Gorlova, Aaron P Thrift

Faculty, Staff and Students Publications

Metabolic dysfunction-associated steatotic liver disease (MASLD), formerly known as non-alcoholic fatty liver disease (NAFLD), exhibits marked racial disparities in incidence, progression, and clinical outcomes. While diet, lifestyle, and socioeconomic factors have been shown to influence these disparities, biological mechanisms underlying racial differences in MASLD risk remain poorly understood. We hypothesized that race-associated variation in hepatic gene expression may contribute to differential susceptibility and progression of MASLD. To test this hypothesis, we analyzed publicly available gene expression data from liver biopsies obtained from over 300 Black and White individuals undergoing bariatric surgery. Gene expression profiles were compared across four histological stages: …


Sewers To Solutions: A Guide To Wastewater Pathogen Monitoring, Justin R Clark, Anthony W Maresso Jan 2026

Sewers To Solutions: A Guide To Wastewater Pathogen Monitoring, Justin R Clark, Anthony W Maresso

Faculty, Staff and Students Publications

Wastewater-based epidemiology (WBE) is the analysis of wastewater to detect pathogen levels or activity for public health awareness or action. Pioneered in the 1940s, WBE underwent a resurgence during the COVID-19 pandemic, providing important information about number of cases, outbreaks, and seasonal impact. With advancements in detection technologies and growing interest in environmental surveillance, WBE is poised to become a standard practice in public health monitoring. Here, we provide an overview of the current state of the art of pathogen WBE, including methods of molecular detection, analysis of wastewater data, real-world applications and programs, public health interventions, and benefits and …


Inducible Pou Class 2 Homeobox 3 Expression In Human Intestinal Organoids As A Model Of Human Tuft Cells, Carolyn Bomidi, Luqiong Wang, Hoa Nguyen-Phuc, Mary K Estes, Sarah E Blutt Jan 2026

Inducible Pou Class 2 Homeobox 3 Expression In Human Intestinal Organoids As A Model Of Human Tuft Cells, Carolyn Bomidi, Luqiong Wang, Hoa Nguyen-Phuc, Mary K Estes, Sarah E Blutt

Faculty, Staff and Students Publications

No abstract provided.


Identification Of Cand1 As A Dna-Dependent Protein Kinase-Regulated Coactivator Of Androgen Receptor And The Arv7 Splice Variant, Ross A Hamilton, Basil Paul, Ping Yi, Kimal Rajapakshe, Anil K Panigrahi, Sandra L Grimm, Cristian Coarfa, Anna Malovannaya, Nancy L Weigel, David M Lonard, Charles E Foulds Jan 2026

Identification Of Cand1 As A Dna-Dependent Protein Kinase-Regulated Coactivator Of Androgen Receptor And The Arv7 Splice Variant, Ross A Hamilton, Basil Paul, Ping Yi, Kimal Rajapakshe, Anil K Panigrahi, Sandra L Grimm, Cristian Coarfa, Anna Malovannaya, Nancy L Weigel, David M Lonard, Charles E Foulds

Faculty, Staff and Students Publications

ARv7, the most prevalent androgen receptor (AR) variant in castration-resistant prostate cancer, lacks the ligand binding domain (LBD), rendering it resistant to LBD-targeted therapies. Identifying new therapeutic targets requires defining the coregulators and associated regulatory enzymes that govern AR and ARv7 transcriptional activity. Here, we have developed a cell-free DNA pulldown assay employing androgen response elements (AREs) to isolate and characterize the AR- and ARv7-associated coregulator complexes formed on DNA. Mass spectrometry analyses of ARE DNA pulldowns revealed previously unrecognized AR and ARv7 associating coregulators, such as cullin-associated NEDD8-dissociated protein 1 (CAND1), in addition to previously known coregulators. ARv7 showed …


Autologous Multiantigen-Targeted T Cell Therapy For Pancreatic Cancer: A Phase 1/2 Trial, Benjamin L Musher, Spyridoula Vasileiou, Brandon G Smaglo, Catherine S Robertson, Mengfen Wu, Tao Wang, Ayumi Watanabe, Manik Kuvalekar, Yovana Velazquez, Shamika Ketkar, Tamadar Al Doheyan, Penelope G Papayanni, Aakash Shah, Natalia Lapteva, Bambi J Grilley, George Van Buren, Premal D Lulla, Helen E Heslop, Cliona M Rooney, Malcolm K Brenner, Ann M Leen Jan 2026

Autologous Multiantigen-Targeted T Cell Therapy For Pancreatic Cancer: A Phase 1/2 Trial, Benjamin L Musher, Spyridoula Vasileiou, Brandon G Smaglo, Catherine S Robertson, Mengfen Wu, Tao Wang, Ayumi Watanabe, Manik Kuvalekar, Yovana Velazquez, Shamika Ketkar, Tamadar Al Doheyan, Penelope G Papayanni, Aakash Shah, Natalia Lapteva, Bambi J Grilley, George Van Buren, Premal D Lulla, Helen E Heslop, Cliona M Rooney, Malcolm K Brenner, Ann M Leen

Faculty, Staff and Students Publications

T cell therapy has proven challenging for pancreatic ductal adenocarcinoma (PDAC), partly due to heterogeneous expression of tumor-associated antigens (TAAs). To address tumor heterogeneity and mitigate immune evasion, an ex vivo expanded, polyclonal, T helper 1 cell-polarized T cell product targeting five TAAs—PRAME, SSX2, MAGEA4, Survivin and NY-ESO-1—was developed. These antigens were chosen based on their tumor specificity, oncogenicity, immunogenicity and level of expression. In a phase 1/2 trial, this autologous nonengineered T cell product was administered (1 × 107 cells m−2 per infusion) monthly to patients with advanced PDAC responding (arm A, n = 13) or refractory (arm B, …


From Local Burden To Global Threat: Neglected Tropical Diseases In An Era Of Climate Change And Human Mobility, Francisco Javier Membrillo, Juan-Carlos Navarro, Diana Marcela Pava-Garzón, Jill Weatherhead, José A Suárez, Alfonso J Rodriguez-Morales Jan 2026

From Local Burden To Global Threat: Neglected Tropical Diseases In An Era Of Climate Change And Human Mobility, Francisco Javier Membrillo, Juan-Carlos Navarro, Diana Marcela Pava-Garzón, Jill Weatherhead, José A Suárez, Alfonso J Rodriguez-Morales

Faculty, Staff and Students Publications

No abstract provided.


Therapeutic Potential Of Hookworm Proteins In Promoting Regulatory Immune Responses To Modulate Trypanosoma Cruzi Induced Liver Inflammation And Oxidative Stress, Maria Jose Villar, Cristina Poveda, Bin Zhan, Maya Gonsoulin, Kathryn M Jones Jan 2026

Therapeutic Potential Of Hookworm Proteins In Promoting Regulatory Immune Responses To Modulate Trypanosoma Cruzi Induced Liver Inflammation And Oxidative Stress, Maria Jose Villar, Cristina Poveda, Bin Zhan, Maya Gonsoulin, Kathryn M Jones

Faculty, Staff and Students Publications

Background: Chronic Trypanosoma cruzi infection causes significant liver pathology, and current antiparasitic treatments often worsen hepatic damage. Hookworm-derived proteins have shown immunomodulatory effects in inflammatory diseases, including T. cruzi-induced myocarditis.

Objective: This study evaluates recombinant hookworm proteins AIP-1 and AIP-2 for treating liver inflammation in a murine model of chronic Chagas disease (CD).

Methods: Female BALB/c mice infected with T. cruzi were treated with AIP-1 or AIP-2 (1 mg/kg) for seven days. Controls were untreated or received aspirin (25 mg/kg) for 14 days. Liver tissues were analyzed for parasite burden (quantitative polymerase chain reaction - qPCR), histopathology (H&E, Picrosirius Red), …


Molecular Heterogeneity Of Hpv-Associated Cancers And Strategies To Overcome Treatment Resistance, Sara Rasouli, Weiyi Gong, Raegan Wood, Danyal Daneshdoust, Anam Khan, Rani Mahyoob, Chongwen Cao, Zihao Yu, Nagireddy Putluri, Gennady Shvets, Haichang Li, Bo Zhao, Xuefeng Liu, Jenny Li Jan 2026

Molecular Heterogeneity Of Hpv-Associated Cancers And Strategies To Overcome Treatment Resistance, Sara Rasouli, Weiyi Gong, Raegan Wood, Danyal Daneshdoust, Anam Khan, Rani Mahyoob, Chongwen Cao, Zihao Yu, Nagireddy Putluri, Gennady Shvets, Haichang Li, Bo Zhao, Xuefeng Liu, Jenny Li

Faculty, Staff and Students Publications

Human papillomavirus (HPV) is a major driver of global cancer incidence, responsible for nearly all cervical cancers and a significant proportion of oropharyngeal, anal, and other anogenital cancers. Despite the availability of effective vaccines, HPV-associated cancers persist due to persistent infection, immune evasion, and the virus's ability to integrate into the host genome, contributing to molecular heterogeneity and therapeutic resistance. Here, we summarize molecular heterogeneity and the emerging combined therapeutic strategies. High-risk HPV types, notably HPV16 and HPV18, initiate carcinogenesis through persistent infection of epithelial basal cells and through the actions of the E6 and E7 oncoproteins, which disrupt the …


Acmg Medical Directors’ Special Interest Group Survey: Current Challenges For Medical Genetics Clinics, Mark Dulchavsky, Catherine E Keegan, Nathaniel H Robin, Chad Haldeman-Englert, Shweta U Dhar, Fuki M Hisama Jan 2026

Acmg Medical Directors’ Special Interest Group Survey: Current Challenges For Medical Genetics Clinics, Mark Dulchavsky, Catherine E Keegan, Nathaniel H Robin, Chad Haldeman-Englert, Shweta U Dhar, Fuki M Hisama

Faculty, Staff and Students Publications

Purpose: The American College of Medical Genetics and Genomics Medical Directors' Special Interest Group (SIG) began in 2021 as a forum for directors of medical genetics clinical groups to share questions, concerns, current practices, and solutions regarding clinical operations. We report on the first 4 years of the SIG-its membership growth and SIG activities. We also present quantitative and qualitative results of a nationwide survey of 66 SIG members addressing recurrent questions from members regarding: wait times, volume of referrals, clinical workload expectations, and independent practice of genetic counselors (GCs) and advanced practice providers.

Methods: Cross-sectional survey of American College …


Correction: Establishing Standardized Transthoracic Echocardiography Reference Ranges For Mouse Models: Insights Into The Impact Of Anesthesia, Sex, And Age, Manuela A Oestereicher, Christopher S Ward, Elida Schneltzer, Susan Marschall, Helmut Fuchs, Valerie Gailus-Durner, Ghina Bou About, Mohammed Selloum, Hamid Meziane, Michelle Stewart, Lydia Teboul, Clare Norris, Dale Pimm, Marina Kan, Federico López Gómez, Robert Wilson, Mayra Monroy, Sheraz Pasha, Eva Zabrodska, Jan Prochazka, David Pajuelo Reguera, Zuzana Nichtova, Yann Herault, Sara Wells, Helen Parkinson, Jason D Heaney, Radislav Sedlacek, Xiang Gao, Martin Hrabe De Angelis, Nadine Spielmann Jan 2026

Correction: Establishing Standardized Transthoracic Echocardiography Reference Ranges For Mouse Models: Insights Into The Impact Of Anesthesia, Sex, And Age, Manuela A Oestereicher, Christopher S Ward, Elida Schneltzer, Susan Marschall, Helmut Fuchs, Valerie Gailus-Durner, Ghina Bou About, Mohammed Selloum, Hamid Meziane, Michelle Stewart, Lydia Teboul, Clare Norris, Dale Pimm, Marina Kan, Federico López Gómez, Robert Wilson, Mayra Monroy, Sheraz Pasha, Eva Zabrodska, Jan Prochazka, David Pajuelo Reguera, Zuzana Nichtova, Yann Herault, Sara Wells, Helen Parkinson, Jason D Heaney, Radislav Sedlacek, Xiang Gao, Martin Hrabe De Angelis, Nadine Spielmann

Faculty, Staff and Students Publications

This corrects the article "Establishing standardized transthoracic echocardiography reference ranges for mouse models: insights into the impact of anesthesia, sex, and age" in volume 12, 1695034.


Case Series Of Nizon-Isidor Syndrome By Heterozygous Variants In Med12l With Further Evidence Of Mitotic Instability In One Case With Diploid-Triploid Mosaicism, Russell Stewart, Kimberly M Ezell, Deanna S Bell, Brian Corner, Ashley Mcminn, Joy D Cogan, Rizwan Hamid, Lynette Rives, John A Phillips, Nina Paddu, Gitanjali Srivastava, Ronit Marom, Farah A Ladha, Claudia Soler-Alfonso, Rachel Franciskovich, Mary Koziura, Sumit Pruthi, Gabriele Richard, Christina B Sheedy, Undiagnosed Diseases Network, Thomas Cassini Jan 2026

Case Series Of Nizon-Isidor Syndrome By Heterozygous Variants In Med12l With Further Evidence Of Mitotic Instability In One Case With Diploid-Triploid Mosaicism, Russell Stewart, Kimberly M Ezell, Deanna S Bell, Brian Corner, Ashley Mcminn, Joy D Cogan, Rizwan Hamid, Lynette Rives, John A Phillips, Nina Paddu, Gitanjali Srivastava, Ronit Marom, Farah A Ladha, Claudia Soler-Alfonso, Rachel Franciskovich, Mary Koziura, Sumit Pruthi, Gabriele Richard, Christina B Sheedy, Undiagnosed Diseases Network, Thomas Cassini

Faculty, Staff and Students Publications

Nizon-Isidor syndrome is a rare disorder caused by heterozygous variants in MED12L, with only eight documented cases in the literature. Here, we present three additional cases of this syndrome. Proband 1 was a 7-year-old female who presented with developmental delay, right-leg hemihypertrophy, laryngeal cleft, esotropia, abnormal skin pigmentation, sectoral iris hypopigmentation, dysphagia, periventricular nodular heterotopia, seizures, morbid obesity, and a pelvic kidney. Genome sequencing (GS) revealed a MED12L variant, NM_053002.5:c.3559+2T>G. Both computational models and transcriptomic analysis confirmed that this variant induced splice loss of MED12L exon 25. Probands 2 and 3 presented with overlapping phenotypes of developmental delay; sequencing …


Efficacy And Safety Of Pyrimidine Nucleos(T)Ide Therapy In Thymidine Kinase 2 Deficiency, Michio Hirano, Caterina Garone, Richard Haas, Carmen Paradas, Fernando Scaglia, Irene Rebollo Mesa, Carl Chiang, Anny-Odile Colson, Susan Vanmeter, Cristina Domínguez-González Jan 2026

Efficacy And Safety Of Pyrimidine Nucleos(T)Ide Therapy In Thymidine Kinase 2 Deficiency, Michio Hirano, Caterina Garone, Richard Haas, Carmen Paradas, Fernando Scaglia, Irene Rebollo Mesa, Carl Chiang, Anny-Odile Colson, Susan Vanmeter, Cristina Domínguez-González

Faculty, Staff and Students Publications

Thymidine kinase 2 deficiency (TK2d) (MIM 609560) is an ultra-rare, autosomal recessive mitochondrial myopathy caused by TK2 variants, leading to mitochondrial DNA depletion and/or multiple deletions. People with thymidine kinase 2 deficiency experience progressive myopathy, bulbar weakness and respiratory insufficiency, often losing the ability to walk, eat and breathe independently. Doxecitine and doxribtimine represents the first approved treatment for patients with thymidine kinase 2 deficiency with age of symptom onset ≤12 years by the US Food and Drug Administration and the European Medicines Agency; previously, disease management was limited to supportive care. We investigated the efficacy and safety of pyrimidine …


Rare But Relevant? Assessing Variants In Dystonia-Linked Genes In Parkinson's Disease, Lara M Lange, Zih-Hua Fang, Laurel Screven, Ai Huey Tan, Roy N Alcalay, Rim Amouri, Roberta Bovenzi, Matilda Fenn, Joshua L I Frost, Joseph Jankovic, Simona Jasaityte, Zane Jaunmuktane, Beomseok Jeon, Ignacio Juan Keller Sarmiento, Rejko Krüger, Gregor Kuhlenbäumer, Chin-Hsien Lin, Lukas Pavelka, Maria Teresa Periñan, Samia Ben Sassi, Tommaso Schirinzi, Jung Hwan Shin, Joshua M Shulman, Yi Wen Tay, Ryan Uitti, Tom Warner, Zbigniew K Wszolek, Lesley Wu, Ruey-Meei Wu, Kirsten E Zeuner, Cornelis Blauwendraat, Andrew Singleton, Niccolò E Mencacci, Huw R Morris, Shen-Yang Lim, Katja Lohmann, Christine Klein Jan 2026

Rare But Relevant? Assessing Variants In Dystonia-Linked Genes In Parkinson's Disease, Lara M Lange, Zih-Hua Fang, Laurel Screven, Ai Huey Tan, Roy N Alcalay, Rim Amouri, Roberta Bovenzi, Matilda Fenn, Joshua L I Frost, Joseph Jankovic, Simona Jasaityte, Zane Jaunmuktane, Beomseok Jeon, Ignacio Juan Keller Sarmiento, Rejko Krüger, Gregor Kuhlenbäumer, Chin-Hsien Lin, Lukas Pavelka, Maria Teresa Periñan, Samia Ben Sassi, Tommaso Schirinzi, Jung Hwan Shin, Joshua M Shulman, Yi Wen Tay, Ryan Uitti, Tom Warner, Zbigniew K Wszolek, Lesley Wu, Ruey-Meei Wu, Kirsten E Zeuner, Cornelis Blauwendraat, Andrew Singleton, Niccolò E Mencacci, Huw R Morris, Shen-Yang Lim, Katja Lohmann, Christine Klein

Faculty, Staff and Students Publications

Background: Dystonia and Parkinson's disease (PD) exhibit clinical and genetic overlap, but the relevance of dystonia gene variants in PD remains unclear.

Objective: The aim was to assess the frequency of dystonia-linked pathogenic variants in PD.

Methods: We screened sequencing data from 15,684 individuals (8272 PD, 3200 atypical parkinsonism, and 4212 unaffected) from the Global Parkinson's Genetics Program (GP2) and Accelerating Medicines Partnership-Parkinson's Disease (AMP-PD) for variants in genes linked to isolated dystonia, dystonia-parkinsonism, and myoclonus-dystonia.

Results: Pathogenic variants were identified only in PD patients. Forty-five PD individuals (0.54%) carried 26 distinct (likely) pathogenic variants in nine dystonia-linked genes, most …


Mark Hallett: Scientist And Humanitarian In Modern Movement Disorder Neurology, Daniel Truong, Joseph Jankovic Jan 2026

Mark Hallett: Scientist And Humanitarian In Modern Movement Disorder Neurology, Daniel Truong, Joseph Jankovic

Faculty, Staff and Students Publications

Mark Hallett, MD (1943-2025) was a highly influential neurologist in the modern history of movement disorders. Over several decades, his work transformed the field from a predominantly descriptive clinical specialty into a neuroscientific discipline. Through pioneering investigations in neurophysiology, cortical excitability, dystonia, tremors, myoclonus, functional movement disorders, and transcranial magnetic stimulation, Hallett helped establish conceptual frameworks that continue to shape contemporary research and clinical practice. Beyond his scientific contributions, he is recognized as a global mentor and educational ambassador whose influence extended across generations of neurologists and neuroscientists worldwide. This article examines Hallett's dual legacy as both a transformative scientist …


Transition To Tenecteplase Is Associated With Shorter Door-To-Puncture Times: A Retrospective Study From The Lone Star Stroke Consortium Tnk Registry, Anqi Luo, Sujani Bandela, Gretchel Gealogo-Brown, Mark P Goldberg, Andrew Slusher, Reza Behrouz, Alibay Jafarli, Siddarth Prasad, Daiwai Olson, Maria Denbow, Mehari Gebreyohanns, Asmiet Techan, Chethan P Venkatasubba Rao, Jane A Anderson, Barbara Kimmel, Anette Ovalle, Michele Patterson, Sean I Savitz, Salvador Cruz-Flores, Steven Warach, Lee Birnbaum Jan 2026

Transition To Tenecteplase Is Associated With Shorter Door-To-Puncture Times: A Retrospective Study From The Lone Star Stroke Consortium Tnk Registry, Anqi Luo, Sujani Bandela, Gretchel Gealogo-Brown, Mark P Goldberg, Andrew Slusher, Reza Behrouz, Alibay Jafarli, Siddarth Prasad, Daiwai Olson, Maria Denbow, Mehari Gebreyohanns, Asmiet Techan, Chethan P Venkatasubba Rao, Jane A Anderson, Barbara Kimmel, Anette Ovalle, Michele Patterson, Sean I Savitz, Salvador Cruz-Flores, Steven Warach, Lee Birnbaum

Faculty, Staff and Students Publications

Background: Intravenous thrombolytic (IVT) and mechanical thrombectomy (MT) therapies are the current standard of care for large vessel occlusion (LVO) stroke. Multiple studies emphasized the impact of time metrics on patient outcomes, particularly door-to-needle (DTN) and door-to-puncture (DTP) times. Tenecteplase (TNK) offers potential advantages over alteplase (ALT), including a simplified one-time bolus administration, which may reduce DTP time. Results suggest TNK is non-inferior to ALT in terms of clinical outcomes, but few large cohort studies have compared DTP time for patients receiving TNK vs. ALT prior to thrombectomy. This real-world study aimed to compare DTP times and discharge outcomes in …


Transient Disruption Of Bladder Control Linked To Periaqueductal Gray Fibers Following Deep Brain Stimulation For Psychiatric Disorders, Thomas Hamre, Hideo Suzuki, Sarah Soubra, Reem El Jammal, Melissa A Ryan, Sanjay J Mathew, Jeffrey A Herron, Nidal Moukaddam, Eric A Storch, Nora Vanegas Arroyave, Kara L Marshall, Garrett P Banks, Nader Pouratian, Wayne K Goodman, Nicole R Provenza, Sameer A Sheth, Sarah R Heilbronner Jan 2026

Transient Disruption Of Bladder Control Linked To Periaqueductal Gray Fibers Following Deep Brain Stimulation For Psychiatric Disorders, Thomas Hamre, Hideo Suzuki, Sarah Soubra, Reem El Jammal, Melissa A Ryan, Sanjay J Mathew, Jeffrey A Herron, Nidal Moukaddam, Eric A Storch, Nora Vanegas Arroyave, Kara L Marshall, Garrett P Banks, Nader Pouratian, Wayne K Goodman, Nicole R Provenza, Sameer A Sheth, Sarah R Heilbronner

Faculty, Staff and Students Publications

No abstract provided.


Proceedings Of The 13th Annual Deep Brain Stimulation Think Tank: The Evolving Landscape, Chance R Fleeting, Eduardo M Moraud, Kamil Uğurbil, Doris D Wang, Wolf-Julian Neumann, Andrea A Kühn, Valerie Voon, Victor Pikov, Marie-Laure Welter, Michael D Fox, John D Rolston, Mahsa Malekmohammadi, Yagna J Pathak, Lyndahl M Himes, David Greene, Abbey S Holt-Becker, Gabriel Lázaro-Muñoz, Alexander W Charney, Amanda R Merner, Martijn Figee, Katherine W Scangos, Timothy Denison, Kent Leyde, Aysegul Gunduz, Helen M Bronte-Stewart, James C Beck, Nora Vanegas-Arroyave, Marta San Luciano, Norbert Brüggemann, Kelly D Foote, Michael S Okun, Joshua K Wong Jan 2026

Proceedings Of The 13th Annual Deep Brain Stimulation Think Tank: The Evolving Landscape, Chance R Fleeting, Eduardo M Moraud, Kamil Uğurbil, Doris D Wang, Wolf-Julian Neumann, Andrea A Kühn, Valerie Voon, Victor Pikov, Marie-Laure Welter, Michael D Fox, John D Rolston, Mahsa Malekmohammadi, Yagna J Pathak, Lyndahl M Himes, David Greene, Abbey S Holt-Becker, Gabriel Lázaro-Muñoz, Alexander W Charney, Amanda R Merner, Martijn Figee, Katherine W Scangos, Timothy Denison, Kent Leyde, Aysegul Gunduz, Helen M Bronte-Stewart, James C Beck, Nora Vanegas-Arroyave, Marta San Luciano, Norbert Brüggemann, Kelly D Foote, Michael S Okun, Joshua K Wong

Faculty, Staff and Students Publications

The Deep Brain Stimulation (DBS) Think Tank XIII was held September 2-4th, 2025, in Gainesville, Florida, at the Norman Fixel Institute for Neurological Diseases at the University of Florida. The theme was "The Evolving Landscape of DBS: New Indications, New Goals." This theme was a continuation of the DBS Think Tank XI and XII, which were focused on emerging technology and pushing the horizon of indications. Since its founding in 2012, the DBS Think Tank has provided a global forum for leading clinicians, engineers, and researchers in both in industry and academia to present, discuss, and debate the current state …


Validation Of The Norwegian Version Of The Movement Disorder Society-Unified Parkinson's Disease Rating Scale, Guido Alves, Yvonne Stavland Sørenes, Veslemøy Hamre Frantzen, Michaela Dreetz Gjerstad, Anders Ledaal Bjørnestad, Jodi Maple-Grødem, Elin Bjelland Forsaa, Ylva Hivand Hiorth, Karen Herlofson, Espen Benjaminsen, Kari Anne Bjørnarå, Espen Dietrichs, Roberta Balestrino, Carmen Gasca-Salas, Chi-Ying R Lin, Alvaro Sanchez-Ferro, Michelle H S Tosin, Tiago A Mestre, Monica M Kurtis, Pablo Martinez-Martin, Sheng Luo, Luowen Yu, Glenn T Stebbins, Christopher G Goetz, Mds Coa Translation Steering Committee Jan 2026

Validation Of The Norwegian Version Of The Movement Disorder Society-Unified Parkinson's Disease Rating Scale, Guido Alves, Yvonne Stavland Sørenes, Veslemøy Hamre Frantzen, Michaela Dreetz Gjerstad, Anders Ledaal Bjørnestad, Jodi Maple-Grødem, Elin Bjelland Forsaa, Ylva Hivand Hiorth, Karen Herlofson, Espen Benjaminsen, Kari Anne Bjørnarå, Espen Dietrichs, Roberta Balestrino, Carmen Gasca-Salas, Chi-Ying R Lin, Alvaro Sanchez-Ferro, Michelle H S Tosin, Tiago A Mestre, Monica M Kurtis, Pablo Martinez-Martin, Sheng Luo, Luowen Yu, Glenn T Stebbins, Christopher G Goetz, Mds Coa Translation Steering Committee

Faculty, Staff and Students Publications

Introduction: The Movement Disorder Society-revised version of the Unified Parkinson's Disease Rating Scale (MDS-UPDRS) is the gold standard assessment for evaluating Parkinson's disease (PD) symptoms and severity, but a validated Norwegian version is not yet available. We translated the original English MDS-UPDRS into Norwegian and tested the clinimetrics of the translated version following the MDS-established protocol for non-English language translations.

Methods: Two independent teams translated the English version of the MDS-UPDRS into Norwegian. After review of the back-translated English version, cognitive pretesting was performed in twelve PD patients at one study site. This was followed by large-scale testing completed by …


Astrocytic Sox9 Overexpression In Alzheimer’S Disease Mouse Models Promotes Aβ Plaque Phagocytosis And Preserves Cognitive Function, Dong-Joo Choi, Sanjana Murali, Wookbong Kwon, Junsung Woo, Eun-Ah Christine Song, Yeunjung Ko, Debosmita Sardar, Brittney Lozzi, Yi-Ting Cheng, Michael R Williamson, Teng-Wei Huang, Kaitlyn Sanchez, Joanna Jankowsky, Benjamin Deneen Jan 2026

Astrocytic Sox9 Overexpression In Alzheimer’S Disease Mouse Models Promotes Aβ Plaque Phagocytosis And Preserves Cognitive Function, Dong-Joo Choi, Sanjana Murali, Wookbong Kwon, Junsung Woo, Eun-Ah Christine Song, Yeunjung Ko, Debosmita Sardar, Brittney Lozzi, Yi-Ting Cheng, Michael R Williamson, Teng-Wei Huang, Kaitlyn Sanchez, Joanna Jankowsky, Benjamin Deneen

Faculty, Staff and Students Publications

Astrocytes play essential roles in the brain, and their dysfunction is associated with nearly every form of neurological disease. Despite their ubiquity, knowledge of how astrocytes contribute to disease pathogenesis is incomplete; accordingly, harnessing their biology toward therapeutics remains a major challenge. Here we show that the transcription factor Sox9 plays a context-specific role in maintaining astrocyte function and circuit activity in the aging hippocampus and Alzheimer's disease (AD) models. We found that Sox9 overexpression in astrocytes in AD models clears existing amyloid beta (Aβ) plaques and preserves cognitive function. Mechanistically, Sox9 promotes the phagocytosis of Aβ plaques by astrocytes …


Comparative Outcomes Of Robotic Single-Port Vnotes Versus Robotic-Xi Assisted Single-Incision Transumbilical Surgery For Hysterectomy, Qiannan Yang, David Pasternak, Chunhua Zhang, Xiaoming Guan Jan 2026

Comparative Outcomes Of Robotic Single-Port Vnotes Versus Robotic-Xi Assisted Single-Incision Transumbilical Surgery For Hysterectomy, Qiannan Yang, David Pasternak, Chunhua Zhang, Xiaoming Guan

Faculty, Staff and Students Publications

Introduction: This study was to evaluate the safety and feasibility of robotic single-port transvaginal natural orifice transluminal endoscopic surgery (RSP-vNOTES) compared with robotic Xi-assisted single-incision transumbilical surgery (RXi-SITS) for hysterectomy.

Method: A total of 405 patients was retrospectively analyzed, comprising 278 individuals who underwent RXi-SITS hysterectomy and 127 who underwent RSP-vNOTES hysterectomy.

Results: A significantly higher prevalence of endometriosis-associated concomitant procedures, including ovarian cystectomy, lesion excision, adhesiolysis, appendectomy, bowel shaving, and bowel oversew, was observed among patients undergoing RSP-vNOTES (all p < 0.05). The RXi-SITS group saw uterosacral ligament suspension and ovarian vein ligation more commonly performed (both p < 0.05). A multivariable linear regression approach was employed to account for heterogeneity in procedural complexity. Following multivariable adjustment, estimated blood loss, hysterectomy time, and postoperative pain outcomes were comparable between the two surgical approaches. In contrast, multivariable linear regression accounting for concomitant procedures demonstrated that the RXi-SITS approach was independently associated with a significantly prolonged total operative time, with an adjusted mean increase of 21.8 min compared with RSP-vNOTES (B = 21.83; 95% CI: 6.05-37.61; p = 0.007). This is despite unadjusted analyses showing a longer median operative time in the RSP-vNOTES group …


Time Pressures And Sociocultural Constraints Affecting Access To Early Abortion Care Under Texas' "6-Week" Ban, Kari White, Whitney Arey, Anna Chatillon, Anitra D Beasley, Cecili Chadwick, Asha Dane'el, Ophra Leyser-Whalen, Tracy A Weitz Jan 2026

Time Pressures And Sociocultural Constraints Affecting Access To Early Abortion Care Under Texas' "6-Week" Ban, Kari White, Whitney Arey, Anna Chatillon, Anitra D Beasley, Cecili Chadwick, Asha Dane'el, Ophra Leyser-Whalen, Tracy A Weitz

Faculty, Staff and Students Publications

Introduction: In 2021, Texas Senate Bill 8 (SB8) prohibited abortion after detection of embryonic cardiac activity and was often referred to as a "6-week ban." Limited evidence exists about how these laws intersect with people's processes seeking pregnancy confirmation and navigating barriers to abortion care.

Methods: Between October 2021 and August 2022, we recruited Texans ≥ 15 years of age who were seeking abortion using online ads and flyers placed in out-of-state abortion-providing facilities. Participants completed in-depth interviews, and we coded transcripts using inductive and deductive coding. This analysis explores participants' discussions of time needed for pregnancy confirmation, decision making, …


Intercornual Distance And Postoperative Reproductive Outcomes In Moderate-To-Severe Intrauterine Adhesions: A Retrospective Cohort Study, Yifu He, Xingping Zhao, Huan Huang, Changfa Shu, Xiaoming Guan, Jia Guo, Dabao Xu Jan 2026

Intercornual Distance And Postoperative Reproductive Outcomes In Moderate-To-Severe Intrauterine Adhesions: A Retrospective Cohort Study, Yifu He, Xingping Zhao, Huan Huang, Changfa Shu, Xiaoming Guan, Jia Guo, Dabao Xu

Faculty, Staff and Students Publications

Study question: Does intercornual distance (ICD), as reflected by intrauterine stent size during hysteroscopic adhesiolysis, have an association with reproductive outcomes and provide information for postoperative risk stratification in women with moderate-to-severe intrauterine adhesions?

Summary answer: A smaller ICD was independently associated with a lower likelihood of clinical pregnancy within 1 year of the final hysteroscopy and may offer additional information for postoperative risk stratification in women with moderate-to-severe intrauterine adhesions.

What is known already: Reproductive outcomes following treatment for moderate-to-severe intrauterine adhesions vary considerably. Existing severity classifications offer limited discrimination within this group. The potential association between ICD and …


Dynamic Progression Of Ectopic Lymphoid Structure Formation In Lacrimal Glands Of A Sjögren’S Disease Murine Model, Sara Abdelhamid, Alison V Ramirez, Emre Aksan, Elizaveta A Demianova, Cintia S De Paiva, Maria C Edman, J Andrew Mackay, Sarah F Hamm-Alvarez Jan 2026

Dynamic Progression Of Ectopic Lymphoid Structure Formation In Lacrimal Glands Of A Sjögren’S Disease Murine Model, Sara Abdelhamid, Alison V Ramirez, Emre Aksan, Elizaveta A Demianova, Cintia S De Paiva, Maria C Edman, J Andrew Mackay, Sarah F Hamm-Alvarez

Faculty, Staff and Students Publications

Background: Sjögren's Disease (SjD) is a chronic autoimmune condition characterized by lymphocytic infiltration of lacrimal glands (LG) and salivary glands (SG). In SG, these immune structures have properties of ectopic lymphoid structures (ELS) and appear to play a critical role in disease pathology. While the presence of ELS in patients' SG biopsies is linked to disease severity, their presence and composition in LG has not been well characterized.

Methods: The properties and time course of apparent ELS development in LG from the male non-obese diabetes free (NOR) sub-strain of the Non-Obese Diabetic (NOD) mice was investigated at stages encompassing early …


Updates In Mycobacterial Keratitis Diagnosis And Treatment, Uma L Balakrishnan, Ryan T Wallace, Patricia Chévez-Barrios, Alejandro Arboleda, Masih U Ahmed Jan 2026

Updates In Mycobacterial Keratitis Diagnosis And Treatment, Uma L Balakrishnan, Ryan T Wallace, Patricia Chévez-Barrios, Alejandro Arboleda, Masih U Ahmed

Faculty, Staff and Students Publications

Mycobacterial keratitis is an uncommon but challenging form of infectious keratitis, often associated with postsurgical eyes. Clinical presentation is variable and may be difficult to recognize, resulting in delays in diagnosis and challenges in management. Traditional diagnostic techniques from corneal scrapings are limited by slow organism growth and may yield negative results. Treatment is challenging due to antimicrobial resistance and typically requires prolonged multidrug therapy. Advances in diagnostic modalities, antimicrobial therapies, surgical approaches, and adjunctive treatments such as corneal crosslinking have improved clinicians' ability to mitigate or avoid severe visual consequences. Despite these developments, optimal management strategies remain incompletely defined, …


3d Geometric Modelling And Clinical Validation Of Lower Limb And Preliminary 2-Year Post-Operative Clinical Outcomes Of Neutral Boundary Alignment In Total Knee Arthroplasty, Bruno Violante, Lorenzo Deveza, Francesco Pollara, Giovanni Rusconi, Gianroberto Ferreri, Alessandro Annibaldi, Ilwhan Park Jan 2026

3d Geometric Modelling And Clinical Validation Of Lower Limb And Preliminary 2-Year Post-Operative Clinical Outcomes Of Neutral Boundary Alignment In Total Knee Arthroplasty, Bruno Violante, Lorenzo Deveza, Francesco Pollara, Giovanni Rusconi, Gianroberto Ferreri, Alessandro Annibaldi, Ilwhan Park

Faculty, Staff and Students Publications

Purpose: To introduce a novel three-dimensional (3D) modelling concept for lower limb alignment in total knee arthroplasty (TKA), termed neutral boundary alignment (NBA) and to present preliminary clinical data supporting this physics-based custom alignment strategy.

Methods: NBA is defined as the alignment at which the knee joint line is parallel to the ground during the mid-stance phase of gait, achieving static equilibrium with the NBA axis aligned to gravity. A theoretical geometric model of the lower limb was developed, integrating principles of physics to describe this condition. Preliminary clinical validation was performed using radiographic data from an initial cohort of …


Professionalism In Practice: A Novel Approach To Integrating Small Doses Of Case-Based Professionalism Education Into Monthly Grand Rounds., Allison H Taylor, Andrew Caruso, Kelley Arredondo, Ellen M Friedman, Stacey R Rose Jan 2026

Professionalism In Practice: A Novel Approach To Integrating Small Doses Of Case-Based Professionalism Education Into Monthly Grand Rounds., Allison H Taylor, Andrew Caruso, Kelley Arredondo, Ellen M Friedman, Stacey R Rose

Faculty, Staff and Students Publications

Introduction: Professionalism is a critical construct across the health professions, though learners and faculty report feeling underprepared to navigate difficult situations; education in professionalism is challenged by the absence of a universal definition, time constraints due to overcrowded curricula, and the lack of consistent messaging to learners and faculty.

Methods: Professionalism in Practice (PiP) was developed to provide small doses (∼5 minutes) of case-based professionalism education as part of an existing educational forum (Grand Rounds) to optimize attendance of both learners and faculty. Each vignette highlighted a common professionalism challenge and was aligned with an AAMC professional competency. Sessions were …


A Strategy To Identify Biliary Atresia Efficiently: A Perspective From A Texas Center, Sanjiv Harpavat, Tebyan A Rabbani, Ashley M Upton, Sridevi Devaraj, Jose A Hernandez, Benjamin L Shneider Jan 2026

A Strategy To Identify Biliary Atresia Efficiently: A Perspective From A Texas Center, Sanjiv Harpavat, Tebyan A Rabbani, Ashley M Upton, Sridevi Devaraj, Jose A Hernandez, Benjamin L Shneider

Faculty, Staff and Students Publications

Infants with biliary atresia are often diagnosed after 60 days of life because the disease is difficult to detect in its early stages. However, infants treated before 30-45 days of life have the best long-term outcomes. To help accelerate the biliary atresia diagnosis, we have developed a streamlined strategy that involves two sequential tests: (1) direct or conjugated bilirubin measurements and (2) a feeding abdominal ultrasound exam. In this review, the strategy is shared to encourage others to provide feedback as well as to consider incorporating portions into their own clinical workflows.


The Lived Experience Of Pediatric Pain Management: Insights From Families And Providers, Samrithaa Balakrishnan, Annesha Dey, Aarti Bavare, Paul Checchia, Katherine Shwetz, Natasha Afonso Jan 2026

The Lived Experience Of Pediatric Pain Management: Insights From Families And Providers, Samrithaa Balakrishnan, Annesha Dey, Aarti Bavare, Paul Checchia, Katherine Shwetz, Natasha Afonso

Faculty, Staff and Students Publications

Pain represents a subjective experience that manifests with emotional and physical discomfort. In pediatric care, pain management is especially complex due to communicative limitations, which creates a unique point of entry for parents to contribute to their child's treatment process. In this study, we explored whether families' perceptions of their child's pain and preferences for treatment were aligned with healthcare providers' pain management decisions. Using narrative-informed techniques in interviews with families and healthcare providers in pediatric care settings, we analyzed areas of concordance and discordance in pain assessment and treatment priorities. Our findings show that trust is built over time …


Point-Of-Care Ultrasound Foundations In Physics And Image Acquisition: An Innovative Hands-On Active Learning Workshop, Cherie Tator, Saul Flores, Alan Riley, Kiyetta Alade Jan 2026

Point-Of-Care Ultrasound Foundations In Physics And Image Acquisition: An Innovative Hands-On Active Learning Workshop, Cherie Tator, Saul Flores, Alan Riley, Kiyetta Alade

Faculty, Staff and Students Publications

Introduction: We developed an innovative, active learning workshop to introduce foundations of point-of-care ultrasound (POCUS) physics and instrumentation. The workshop design aimed to reduce cognitive load and encourage learner-centered engagement through hands-on exploration that reinforces key principles and connects theory to practice.

Methods: First-year medical students participated in small-group, student-driven exercises to explore POCUS machine controls, transducers, and image acquisition skills. Each group was supported by a faculty member to guide activities and ensure accuracy. Students scanned pickles, hard-boiled eggs, and olives with pits; these items were selected for their low cost, sonographic characteristics, and recognizability. Later in the semester, …