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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.


Challenges In The Diagnosis Of Concurrent T-Lymphoblastic Leukemia/Lymphoma And Thymic Neuroendocrine Carcinoma: A Case Report, Kristen Oliveira, Mary Doan, Ying Pei, Marwan Yared, Songlin Zhang Jan 2026

Challenges In The Diagnosis Of Concurrent T-Lymphoblastic Leukemia/Lymphoma And Thymic Neuroendocrine Carcinoma: A Case Report, Kristen Oliveira, Mary Doan, Ying Pei, Marwan Yared, Songlin Zhang

Faculty, Staff and Students Publications

The co-occurrence of T-lymphoblastic leukemia/lymphoma and thymic neoplasia is a rare event that can present a diagnostic challenge. In this case report, we describe a 31-year-old man who was found to have thymic neuroendocrine carcinoma and T-lymphoblastic leukemia/lymphoma 2 years after initial treatment for T-lymphoblastic leukemia/lymphoma. The thymic neuroendocrine carcinoma was initially detected in a malignant pleural effusion, and a retrospective review of a preceding lung biopsy suggested the involvement of both tumors within one tissue sample. Immunohistochemical analysis was imperative in highlighting these two elements because despite their unique cytomorphological characteristics, a limited amount of each component was seen …


Integrating A Project-Based Learning Methodology Into A Department-Wide Quality Improvement Curriculum: A Nine-Year Experience In Pediatric Subspecialty Training, Venessa Lynn Pinto, Danny Castro, Constance M Wiemann, Liza Bonin, Cagri Yildirim-Toruner, Nicholas A Ettinger, Sharada Hiranya Gowda, Joyee Vachani, Mehmet Fatih Okcu Jan 2026

Integrating A Project-Based Learning Methodology Into A Department-Wide Quality Improvement Curriculum: A Nine-Year Experience In Pediatric Subspecialty Training, Venessa Lynn Pinto, Danny Castro, Constance M Wiemann, Liza Bonin, Cagri Yildirim-Toruner, Nicholas A Ettinger, Sharada Hiranya Gowda, Joyee Vachani, Mehmet Fatih Okcu

Faculty, Staff and Students Publications

Background: Quality improvement (QI) training of subspecialty fellows is an essential component of graduate medical education, yet often delivered in silos within departments through a variety of instructional methodologies.

Objective: We applied project-based learning (PjBL) as a guiding methodology for a QI curriculum for pediatric subspecialty fellows and describe our curriculum development, instructional design, and its implementation.

Methods: We integrated the Institute for Healthcare Improvement (IHI) Model for Improvement with the 6 key features of PjBL: a driving question, defined learning goals, active participation in educational tasks, collaboration among learners, scaffolding with learning technology, and production of tangible artifacts. The …


Pd-L1-Centric Whole Blood-Based Immune Signature Profiles Of Tuberculosis Patients During Therapy, Johanna Eggeling, Martina Sester, Christoph Lange, Jan Heyckendorf, Barbara Kalsdorf, Anna M Mandalakas, Andrew R Dinardo, David Lewinsohn, Dagmar Schaub, Tina Schmidt, Eva Tolosa, Maja Reimann, Patricia M Sánchez Carballo Jan 2026

Pd-L1-Centric Whole Blood-Based Immune Signature Profiles Of Tuberculosis Patients During Therapy, Johanna Eggeling, Martina Sester, Christoph Lange, Jan Heyckendorf, Barbara Kalsdorf, Anna M Mandalakas, Andrew R Dinardo, David Lewinsohn, Dagmar Schaub, Tina Schmidt, Eva Tolosa, Maja Reimann, Patricia M Sánchez Carballo

Faculty, Staff and Students Publications

This prospective study investigated whole blood-based immune cell biomarkers for pulmonary tuberculosis (TB) immunoprofiling. Blood samples from 34 healthy controls and 51 tuberculosis patients were analyzed at three timepoints: Prior to therapy (T0), after 14 days of therapy (T1), and at the end of treatment (Te). Using multiparameter flow cytometry, 386 immune cell populations were analyzed. Predictive models were developed using two machine learning algorithms. A TB5LF change score, which was based on five cell populations, effectively distinguished tuberculosis patients from controls (AUC = 0.89) and tuberculosis patients before and at the end of treatment (AUC = 0.92). Similarly, the …


Host- And Pathogen-Related Determinants Of Pulmonary Versus Extrapulmonary Tuberculosis, Begna Tulu, Thomas Theo Brehm, Reinout Van Crevel, Tobias Dallenga, Andrew R Dinardo, Keertan Dheda, Johanna Eggeling, Wendemagegn Enbiale, Matthias I Gröschel, Jialun Hao, Vinod Kumar, Arjan Van Laarhoven, Rolanda Londt, Gareth Prosser, Philippa Randall, Norbert Reiling, Jan Rybniker, Ulrich E Schaible, Erwin Schurr, Isabelle Suarez, Sebastian J Theobald, Robert J Wilkinson, Christoph Lange Jan 2026

Host- And Pathogen-Related Determinants Of Pulmonary Versus Extrapulmonary Tuberculosis, Begna Tulu, Thomas Theo Brehm, Reinout Van Crevel, Tobias Dallenga, Andrew R Dinardo, Keertan Dheda, Johanna Eggeling, Wendemagegn Enbiale, Matthias I Gröschel, Jialun Hao, Vinod Kumar, Arjan Van Laarhoven, Rolanda Londt, Gareth Prosser, Philippa Randall, Norbert Reiling, Jan Rybniker, Ulrich E Schaible, Erwin Schurr, Isabelle Suarez, Sebastian J Theobald, Robert J Wilkinson, Christoph Lange

Faculty, Staff and Students Publications

Tuberculosis (TB) primarily manifests as pulmonary TB (PTB), but extrapulmonary TB (EPTB) remains a major clinical challenge. Distinct diagnostic and therapeutic difficulties arise from differences in immune responses, pathogen behaviour and host susceptibility. However, the factors driving disease localisation are still incompletely understood. We conducted a comprehensive narrative review of studies examining differences between PTB and EPTB in terms of epidemiology, mycobacterial factors, genetic and epigenetic determinants, host immune responses, transcriptomic profiles, cytokine and chemokine patterns, and immunophenotypes. EPTB is more common among females, children, older adults and immunocompromised individuals with deficient granuloma formation. This review is intended to provide …


A Year In Review On Tuberculosis And Non-Tuberculous Mycobacteria Disease: A 2026 Update For Clinicians And Scientists, Simone Tunesi, Graham Bothamley, Gunar Günther, Yousra Kherabi, Liga Kuksa, Berit Lange, Christoph Lange, Natalie Lorent, Francesca Saluzzo, Martina Sester, Xenia Emilie Sinding Iversen, Marc Tebruegge, Conor Tweed, Anca Vasiliu, Lorenzo Guglielmetti, Tuberculosis Network European Trials Group (Tbnet) Jan 2026

A Year In Review On Tuberculosis And Non-Tuberculous Mycobacteria Disease: A 2026 Update For Clinicians And Scientists, Simone Tunesi, Graham Bothamley, Gunar Günther, Yousra Kherabi, Liga Kuksa, Berit Lange, Christoph Lange, Natalie Lorent, Francesca Saluzzo, Martina Sester, Xenia Emilie Sinding Iversen, Marc Tebruegge, Conor Tweed, Anca Vasiliu, Lorenzo Guglielmetti, Tuberculosis Network European Trials Group (Tbnet)

Faculty, Staff and Students Publications

Background: Tuberculosis (TB) remains a major cause of morbidity and mortality worldwide, while infections from non-tuberculous mycobacteria (NTM) represent a growing public health threat. In its 20th year of activity, the Tuberculosis Network European Trials group (TBnet; www.tbnet.eu) is one of the leading research networks in Europe. In this review, we summarize the main advances in TB and NTM that occurred in 2025.

Methods: We conducted a non-systematic review of articles published in 2025, with a strong emphasis on research with current or potential impact on clinical practice. We also selected the most impactful papers regarding the management of adult …


Improving Compliance With Safe Sleep Guidelines For Vulnerable Patients In A Community Safety Net Hospital Neonatal Intensive Care Unit, Andrew Beverstock, Samantha Carlton, Hillary Lee, Thomas Lu, Kelsi Morgan, Ashlee Smith-Patel, Kelli Phillips, Joseph Hagan, Pablo Lohmann, Caraciolo Fernandes, Lisa Owens, Daniela Dinu Jan 2026

Improving Compliance With Safe Sleep Guidelines For Vulnerable Patients In A Community Safety Net Hospital Neonatal Intensive Care Unit, Andrew Beverstock, Samantha Carlton, Hillary Lee, Thomas Lu, Kelsi Morgan, Ashlee Smith-Patel, Kelli Phillips, Joseph Hagan, Pablo Lohmann, Caraciolo Fernandes, Lisa Owens, Daniela Dinu

Faculty, Staff and Students Publications

Introduction: Modeling safe sleep in the neonatal intensive care unit (NICU) increases the likelihood that parents will follow these practices after discharge. Many NICU infants are put to sleep unsafely, and unsafe sleep practices are the leading cause of nonnatural death among children locally. We created safe sleep standards for infants older than 32 weeks based on national guidelines: infants should be placed supine in a flat, empty crib and should never be swaddled loosely. We aimed to increase the weekly percentage compliance with safe sleep recommendations from a baseline of 58% (0.58 compliant) to 85% (0.85 compliant) by March …


Improving Compliance With Safe Sleep Guidelines For Vulnerable Patients In A Community Safety Net Hospital Neonatal Intensive Care Unit, Andrew Beverstock, Samantha Carlton, Hillary Lee, Thomas Lu, Kelsi Morgan, Ashlee Smith-Patel, Kelli Phillips, Joseph Hagan, Pablo Lohmann, Caraciolo Fernandes, Lisa Owens, Daniela Dinu Jan 2026

Improving Compliance With Safe Sleep Guidelines For Vulnerable Patients In A Community Safety Net Hospital Neonatal Intensive Care Unit, Andrew Beverstock, Samantha Carlton, Hillary Lee, Thomas Lu, Kelsi Morgan, Ashlee Smith-Patel, Kelli Phillips, Joseph Hagan, Pablo Lohmann, Caraciolo Fernandes, Lisa Owens, Daniela Dinu

Faculty, Staff and Students Publications

Objectives: Congenital diaphragmatic hernia (CDH) often coexists with fetal growth restriction (FGR). The observed-to-expected (O/E) total fetal lung volume (TFLV) is used to assess CDH severity, predict outcomes, and direct fetal interventions. Expected TFLV measurements traditionally rely only on gestation age (GA). This simulation assesses how incorporating weight-adjusted GA norms affects O/E TFLV calculations in patients with isolated CDH and FGR.

Methods: A simulated dataset (n=1,005) utilized published mean fetal weight and TFLV references. Computer-generated variables included observed weights (3rd-10th %ile), O/E TFLV (10-65 %), and percent liver herniation (0-42 %). GA estimates were corrected by weight and used to …


A Review Of Current Research And Barriers To Access: Exploring Disparities In Pediatric Epilepsy Surgery, Nikita Das, Ali A Mohamed, Akshat Katyayan, Meena Vessell Jan 2026

A Review Of Current Research And Barriers To Access: Exploring Disparities In Pediatric Epilepsy Surgery, Nikita Das, Ali A Mohamed, Akshat Katyayan, Meena Vessell

Faculty, Staff and Students Publications

Background: Drug-resistant epilepsy (DRE) impacts at least 30% of pediatric epilepsy patients, adversely affecting neurodevelopment and quality of life, as well as risk of sudden unexplained death in epilepsy (SUDEP). While surgical intervention has proven to be an effective treatment for DRE, disparities in access to surgical care persist. Compared to adults, pediatric patients face unique challenges, including delayed recognition of surgical candidacy, limited access to specialized epilepsy centers, complex care coordination, and socioeconomic barriers.

Summary: This review explores the current state of pediatric epilepsy surgery, highlighting its effectiveness in achieving seizure freedom, improving neurocognitive outcomes, and reducing long-term healthcare …


External Validation Of A Machine Learning Model To Predict Postpartum Hemorrhage In A Us Northeastern Healthcare System, Vesela P Kovacheva, Ricardo Kleinlein, Nolan Wheeler, Kartik K Venkatesh, Eric Jelovsek, David W Bates, Kathryn J Gray Jan 2026

External Validation Of A Machine Learning Model To Predict Postpartum Hemorrhage In A Us Northeastern Healthcare System, Vesela P Kovacheva, Ricardo Kleinlein, Nolan Wheeler, Kartik K Venkatesh, Eric Jelovsek, David W Bates, Kathryn J Gray

Faculty, Staff and Students Publications

Introduction: Postpartum hemorrhage (PPH) is a major cause of maternal morbidity and mortality. Timely prediction may prevent adverse maternal outcomes, and efforts are needed to develop accurate predictive tools. A high-performing machine learning model to predict PPH using data from the US Consortium for Safe Labor (CSL) remains to be widely validated in contemporary clinical settings using electronic health record (EHR) data. Our goal was to evaluate the performance of the CSL PPH predictive model using EHR data across a large healthcare system in the Northeastern United States.

Methods: We conducted a retrospective cohort study across eight hospitals in the …


Highly Variable Expressivity Of A Cnv Deletion Involving Tbx4 In Three Deceased Siblings With Lung Developmental Disorder And Their Mildly Affected Mother And Grandfather, Przemyslaw Szafranski, Tomasz Gambin, Michal Kadlof, Michał Denkiewicz, Dariusz Plewczynski, Hyun Jeong Kim, Gail Deutsch, Nahir Cortes-Santiago, Salmo Raskin, Paweł Stankiewicz Jan 2026

Highly Variable Expressivity Of A Cnv Deletion Involving Tbx4 In Three Deceased Siblings With Lung Developmental Disorder And Their Mildly Affected Mother And Grandfather, Przemyslaw Szafranski, Tomasz Gambin, Michal Kadlof, Michał Denkiewicz, Dariusz Plewczynski, Hyun Jeong Kim, Gail Deutsch, Nahir Cortes-Santiago, Salmo Raskin, Paweł Stankiewicz

Faculty, Staff and Students Publications

Single nucleotide variants (SNVs) and copy-number variant (CNV) deletions involving TBX4 have been associated with pulmonary arterial hypertension, ischiocoxopodopatellar syndrome, and lethal lung developmental disorders (LLDDs). Thus far, all large CNV deletions encompassing entire TBX4 have been found to have arisen de novo. Here, we present a three-generation family with three neonate siblings who died within 35-66 days due to histopathologically diagnosed LLDD. Whole-genome sequencing identified an ~108-kb CNV deletion encompassing TBX4 in all three infants. The deletion was also found in their mother with a history of pneumonia and persistent thick upper airway secretions and in the maternal grandfather …


Case Report: Molecular Diagnostics And Clinical Courses Of Two Adult Spinal Pilocytic Astrocytoma Long-Term Survivors With Gtf2i::Braf Fusion, Lorenzo Argao, Pinar E Zerk, Hsiang-Chih Lu, Zied Abdullaev, Martha Quezado, Michelle L Cassidy, Bennett Mclver, Anna Choi, Marissa Panzer, Renee Tweneboah-Koduah, Lily Polskin, Marta Penas-Prado, Paul Park, Nathan Clarke, Kenneth Aldape, Jacob Mandel, Byram H Ozer Jan 2026

Case Report: Molecular Diagnostics And Clinical Courses Of Two Adult Spinal Pilocytic Astrocytoma Long-Term Survivors With Gtf2i::Braf Fusion, Lorenzo Argao, Pinar E Zerk, Hsiang-Chih Lu, Zied Abdullaev, Martha Quezado, Michelle L Cassidy, Bennett Mclver, Anna Choi, Marissa Panzer, Renee Tweneboah-Koduah, Lily Polskin, Marta Penas-Prado, Paul Park, Nathan Clarke, Kenneth Aldape, Jacob Mandel, Byram H Ozer

Faculty, Staff and Students Publications

Introduction: Pilocytic astrocytomas are driven by BRAF and mitogen-activated protein kinase (MAPK) alterations, typically KIAA1549::BRAF fusions. A rare GTF2I::BRAF fusion has been described, but little is known about these cases.

Case report: Here, we report two cases with GTF2I::BRAF fusions. Case 1 is a 36-year-old man initially diagnosed with myxopapillary ependymoma at the conus medullaris with three recurrences over 23 years requiring two surgeries, three rounds of radiation therapy, and one round of lapatinib/temozolomide. A distant disease focus in T3/T4 was sampled and tested with modern diagnostic techniques revealing a pilocytic astrocytoma on histology and methylation profiling. The patient has …


Suicidal Ideation In Spinocerebellar Ataxia, Levi Peppel, Ruo-Yah Lai, Christian Rummey, Puneet Opal, Jeremy D Schmahmann, Christopher M Gomez, Henry Paulson, Theresa A Zesiewicz, Susan Perlman, George Wilmot, Sarah H Ying, Chiadi U Onyike, Khalaf O Bushara, Michael D Geschwind, Karla P Figueroa, Stefan M Pulst, Sub H Subramony, Antoine Duquette, Tetsuo Ashizawa, Ali G Hamedani, Marie Y Davis, Sharan R Srinivasan, Matthew R Burns, Nadia Amokrane, Lauren R Moore, Vikram G Shakkottai, Liana S Rosenthal, Sheng-Han Kuo, Chi-Ying R Lin Jan 2026

Suicidal Ideation In Spinocerebellar Ataxia, Levi Peppel, Ruo-Yah Lai, Christian Rummey, Puneet Opal, Jeremy D Schmahmann, Christopher M Gomez, Henry Paulson, Theresa A Zesiewicz, Susan Perlman, George Wilmot, Sarah H Ying, Chiadi U Onyike, Khalaf O Bushara, Michael D Geschwind, Karla P Figueroa, Stefan M Pulst, Sub H Subramony, Antoine Duquette, Tetsuo Ashizawa, Ali G Hamedani, Marie Y Davis, Sharan R Srinivasan, Matthew R Burns, Nadia Amokrane, Lauren R Moore, Vikram G Shakkottai, Liana S Rosenthal, Sheng-Han Kuo, Chi-Ying R Lin

Faculty, Staff and Students Publications

Objective: Suicidal ideation has not been extensively studied in spinocerebellar ataxias (SCAs). The authors examined whether individuals with SCAs have increased suicidal ideation and related factors.

Methods: The authors studied patients with genetically confirmed SCAs enrolled in the Clinical Research Consortium for the Study of Cerebellar Ataxia cohort, examining the percentages of patients with SCA subtypes 1, 2, 3, and 6 who reported suicidal ideation and comparing findings with nationally representative data from the National Survey on Drug Use and Health (NSDUH). Clinical characteristics that may contribute to suicidal ideation in SCAs, including age, disease duration, sex, ataxia severity, depression, …


Noradrenergic Innervation Across Brain Regions Is Altered By Aging And By Disease Progression In A Mouse Model Of Alzheimer’S Disease Neuropathology, Nicole M Hernandez, Manuel Silva-Pérez, Jeannie Chin Jan 2026

Noradrenergic Innervation Across Brain Regions Is Altered By Aging And By Disease Progression In A Mouse Model Of Alzheimer’S Disease Neuropathology, Nicole M Hernandez, Manuel Silva-Pérez, Jeannie Chin

Faculty, Staff and Students Publications

Norepinephrine plays critical roles in modulating arousal and attention, is highly dynamic in awake, behaving individuals, and has anti-inflammatory and neuroprotective actions. Notably, the locus coeruleus (LC), the primary source of norepinephrine in the central nervous system, is among the first brain regions to show pathological alterations in early stages of Alzheimer's disease (AD). LC neuronal loss and associated reductions in norepinephrine in the brain have therefore been postulated to play a key role in AD pathophysiology. LC neurons and their axons have been studied in several mouse models of AD-related neuropathology to investigate their contribution to brain dysfunction in …


Frontline Aspiration Versus Stent Retriever Thrombectomy For M2 Occlusions: Insights From The Star Registry, Michael Gaub, Rahim Abo Kasem, Ilko Maier, Ansaar Rai, Pascal Jabbour, Joon-Tae Kim, Brian Howard, Ali Alawieh, Stacey Quintero Wolfe, Robert M Starke, Marios-Nikos Psychogios, Amir Shaban, Nitin Goyal, Justin Dye, Ali Alaraj, Mohamad Ezzeldin, Shinichi Yoshimura, David Fiorella, Omar Tanweer, Daniele G Romano, Pedro Navia, Hugo Cuellar, Isabel Fragata, Adam Polifka, Joshua Osbun, Fazeel Siddiqui, Mark Moss, Kaustubh Limaye, Maxim Mokin, Charles Matouk, Min S Park, Waleed Brinjikji, Ergun Daglioglu, Richard Williamson, David J Altschul, Christopher S Ogilvy, Roberto Crosa, Michael R Levitt, Benjamin Gory, Alexandra Paul, Peter Kan, Walter Casagrande, Shakeel Chowdhry, Michael F Stiefel, Ramesh Grandhi, Alejandro Spiotta, Justin Mascitelli Jan 2026

Frontline Aspiration Versus Stent Retriever Thrombectomy For M2 Occlusions: Insights From The Star Registry, Michael Gaub, Rahim Abo Kasem, Ilko Maier, Ansaar Rai, Pascal Jabbour, Joon-Tae Kim, Brian Howard, Ali Alawieh, Stacey Quintero Wolfe, Robert M Starke, Marios-Nikos Psychogios, Amir Shaban, Nitin Goyal, Justin Dye, Ali Alaraj, Mohamad Ezzeldin, Shinichi Yoshimura, David Fiorella, Omar Tanweer, Daniele G Romano, Pedro Navia, Hugo Cuellar, Isabel Fragata, Adam Polifka, Joshua Osbun, Fazeel Siddiqui, Mark Moss, Kaustubh Limaye, Maxim Mokin, Charles Matouk, Min S Park, Waleed Brinjikji, Ergun Daglioglu, Richard Williamson, David J Altschul, Christopher S Ogilvy, Roberto Crosa, Michael R Levitt, Benjamin Gory, Alexandra Paul, Peter Kan, Walter Casagrande, Shakeel Chowdhry, Michael F Stiefel, Ramesh Grandhi, Alejandro Spiotta, Justin Mascitelli

Faculty, Staff and Students Publications

Background: Recent trials have furthered uncertainty regarding the endovascular benefit for medium vessel occlusions (MeVO). Stent retrievers (SR) were employed in the first attempt in most interventional arm participants. We sought to compare outcomes in acute MCA M2 occlusions between frontline aspiration and SR, and to delineate procedural and anatomical covariates associated with differential treatment effect.

Methods: Retrospective analysis of a multicenter stroke thrombectomy cohort identified cases of MT for M2 occlusions. Unmatched and propensity score-matched (PSM) cohorts were generated comparing frontline aspiration to standalone and combined SR. The primary outcome was functional independence (mRS 0-2) at 90 days. Recanalization, …


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 …


Combinatorial Effects Of Multi-Site Stimulation On Depression-Related Brain Regions: Clinical Data Analysis And Predictive Modeling, Atefeh Ghazavi, Koorosh Mirpour, Masoud Soroush, Eleonora Bartoli, Nisha Giridharan, Denise Oswalt, Nicole R Provenza, Anusha Allawala, Wayne Goodman, Sameer A Sheth, Nader Pouratian Jan 2026

Combinatorial Effects Of Multi-Site Stimulation On Depression-Related Brain Regions: Clinical Data Analysis And Predictive Modeling, Atefeh Ghazavi, Koorosh Mirpour, Masoud Soroush, Eleonora Bartoli, Nisha Giridharan, Denise Oswalt, Nicole R Provenza, Anusha Allawala, Wayne Goodman, Sameer A Sheth, Nader Pouratian

Faculty, Staff and Students Publications

Background: Despite growing evidence supporting deep brain stimulation (DBS) for treatment- resistant depression (TRD), how stimulation delivered across hemispheres or across multiple targets interact to shape large-scale network activity remains poorly characterized.

Objective: Using a unique opportunity to simultaneously stimulate the subcallosal cingulate (SCC) and ventral capsule/ventral striatum (VC/VS) in subjects with TRD while recording neural activity across putative prefrontal networks underlying depression via intracranial electrodes, we investigated whether bilateral or multi-target stimulation has additive, synergistic/super-additive, or antagonistic/sub-additive effects on power modulation across depression-related brain networks.

Methods: Four DBS leads, and ten stereo-electroencephalography (sEEG) leads were implanted in depression-related prefrontal …


Old Lesions And New Targets: Seeg-Identified Onsets In Traditionally Inoperable Epilepsy Lesions And Associated Surgical Outcomes, Yosef M Dastagirzada, Spencer Frome, Daniel J Curry, Howard L Weiner Jan 2026

Old Lesions And New Targets: Seeg-Identified Onsets In Traditionally Inoperable Epilepsy Lesions And Associated Surgical Outcomes, Yosef M Dastagirzada, Spencer Frome, Daniel J Curry, Howard L Weiner

Faculty, Staff and Students Publications

Background: Patients with epilepsy who do not respond to pharmacotherapy are often offered a noninvasive diagnostic workup to localize an epileptogenic focus that might be treated with resection, neuromodulation, or ablation. Yet in many cases, this evaluation fails to identify surgical candidates.

Summary: Patients with tuberous sclerosis, periventricular nodular heterotopia, or polymicrogyria may have clearly visible lesions on MRI, but the resulting epileptogenic onset zones/networks are often too complex for scalp electroencephalography to decode. Similarly, seizures arising from the cingulate gyrus originate in deep structures that are inaccessible to noninvasive techniques. In post-traumatic epilepsy without a dominant lesion such as …


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 …


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 …


Lessons Learned From An Epic Transformation Of A Radiation Oncology Department In Guatemala: Keys To Success, Edgar Ruiz, Hiram A Gay, Milton Ixquiac, Angel Velarde, Baozhou Sun, Jose García-Ramirez, Eric Laugeman, Benjamin Li, Jeff Michalski, Vicky De Falla, Geoff Hugo, Jacaranda Van Rheenen Jan 2026

Lessons Learned From An Epic Transformation Of A Radiation Oncology Department In Guatemala: Keys To Success, Edgar Ruiz, Hiram A Gay, Milton Ixquiac, Angel Velarde, Baozhou Sun, Jose García-Ramirez, Eric Laugeman, Benjamin Li, Jeff Michalski, Vicky De Falla, Geoff Hugo, Jacaranda Van Rheenen

Faculty, Staff and Students Publications

Purpose: We describe the radical modernization of a radiation oncology department in a developing country, Guatemala, from 2015 to the beginning of 2024. The Instituto de Cancerología y Hospital Dr. Bernardo del Valle S (INCAN) is the only public radiotherapy clinic serving patient referrals from the Ministry of Public Health and Social Assistance program.

Methods and materials: We describe the state of the radiation oncology department in 2015 versus 2024 while chronicling its gradual transformation. This multifaceted collaboration involved academic centers, government agencies, International Atomic Energy Agency (IAEA), industry, and nonprofits and continues to this day. We analyze the infrastructure, …


A Narrative Review Of Bertolotti's Syndrome: Etiology, Classification, Diagnosis, And Treatment, Matyas Abel Tsegaye, Andrea Muffly Jan 2026

A Narrative Review Of Bertolotti's Syndrome: Etiology, Classification, Diagnosis, And Treatment, Matyas Abel Tsegaye, Andrea Muffly

Rehabilitation Sciences Faculty Publications

Bertolotti's syndrome is a congenital condition characterized by chronic low back pain stemming from a lumbosacral transitional vertebra (LSTV). Because the condition is frequently overlooked, patients often face years of delayed diagnosis before the true source of their pain is identified. Furthermore, current information regarding the biological origins and clinical management of the condition remain scattered. To address this knowledge gap, this narrative review aims to provide a comprehensive overview of Bertolotti’s syndrome by consolidating these disparate sources and suggesting new connections. We synthesize the latest understanding of this condition, ranging from its genetic origins to modern clinical management. We …


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 …


Walking It Off: Habituation Of Gait At Virtual High Elevation, Kelly Poretti, Toby J. Ellmers, Christopher K. Rhea, Tiphanie Raffegeau Jan 2026

Walking It Off: Habituation Of Gait At Virtual High Elevation, Kelly Poretti, Toby J. Ellmers, Christopher K. Rhea, Tiphanie Raffegeau

Rehabilitation Sciences Faculty Publications

Introduction: Fear and anxiety about falling can disrupt gait control, leading to activity restriction and increased fall risk in older adults. VR can be used to induce postural threat (e.g., by simulating high elevation settings) within a controlled environment, inducing fall-related anxiety and cautious gait (i.e. slower, shorter steps) in young and older adults. However, it is unknown how emotional and motor responses to VR postural threat habituate across time because existing studies feature short exposures (10 seconds or less). Before VR-induced postural threat can be translated into an intervention, it is critical to understand threat-related gait habituation across time. …


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: …


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.


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 …


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 …


Helicobacter Pylori And Cancer: What's The Link?, Elettra Merola, Giovanni Mario Pes, David Yates Graham, Maria Pina Dore Jan 2026

Helicobacter Pylori And Cancer: What's The Link?, Elettra Merola, Giovanni Mario Pes, David Yates Graham, Maria Pina Dore

Faculty, Staff and Students Publications

Helicobacter pylori (H. pylori) is a human bacterial pathogen that causes one of the most common chronic bacterial infections worldwide. The microorganism has been classified by the International Agency for Research on Cancer as a Group I carcinogen. While the etiological link to gastric cancer is well established, the precise molecular and cellular mechanisms driving this transformation are highly complex and incompletely understood. Fundamentally, the infection results from the chronic presence of acute on chronic gastric mucosal inflammation. H. pylori pathogenicity is increased by bacterial virulence factors including the cytotoxin-associated gene A (CagA) and Vacuolating cytotoxin A (VacA) …


Genomic And Structural Analysis Of Major Antigenic Proteins’ Variability In The Human Relapsing Fever Spirochete Borrelia Persica, Dor Shwartz, Yaarit Nachum-Biala, Reinhard K Straubinger, Ofir Segev, Asaf Levy, Job E Lopez, Gad Baneth Jan 2026

Genomic And Structural Analysis Of Major Antigenic Proteins’ Variability In The Human Relapsing Fever Spirochete Borrelia Persica, Dor Shwartz, Yaarit Nachum-Biala, Reinhard K Straubinger, Ofir Segev, Asaf Levy, Job E Lopez, Gad Baneth

Faculty, Staff and Students Publications

Antigenic variation enables immune evasion of pathogens, yet the mechanisms for the rapid change in their antigens without loss of structural and functional features are not fully known. Tick-borne relapsing fever (TBRF) spirochetes of the genus Borrelia can be used as a model because their variable major proteins (Vmps) drive antigenic variation followed by recurrent waves of bacteremia. In this study we generated the genome of Borrelia persica LMU-C01 and evaluated Vmp structure across relapsing fever Borrelia species. Borrelia persica was found to have a genome of 1.7Mb with one linear chromosome, 12 linear and one circular plasmids. Telomeric hairpin …