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Articles 4921 - 4950 of 79082

Full-Text Articles in Medical Specialties

Performance And Improvement Strategies For Adapting Generative Large Language Models For Electronic Health Record Applications: A Systematic Review, Ya-Wen Chuang, Yiming Li, Richard Yang, Pengyu Hong, David W Bates, Li Zhou Jan 2026

Performance And Improvement Strategies For Adapting Generative Large Language Models For Electronic Health Record Applications: A Systematic Review, Ya-Wen Chuang, Yiming Li, Richard Yang, Pengyu Hong, David W Bates, Li Zhou

Faculty, Staff and Students Publications

Purpose: To synthesize performance and improvement strategies for adapting generative LLMs in EHR analyses and applications.

Methods: We followed the PRISMA guidelines to conduct a systematic review of articles from PubMed and Web of Science published between January 1, 2023 and November 9, 2024. Multiple reviewers including biomedical informaticians and a clinician involved in the article reviewing process. Studies were included if they used generative LLMs to analyze real-world EHR data and reported quantitative performance evaluations for an improvement technique. The review identified key clinical applications, summarized performance and the improvement strategies.

Results: Of the 18,735 articles retrieved, 196 met …


External Validation Of A Machine Learning Model To Predict Postpartum Hemorrhage In A Us Northeastern Healthcare System, 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, 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 …


Complex Genomic Rearrangement Involving The Tbx4 Promoter Manifesting With Variable Expressivity In A Five-Generation Family, Shruti A Pande, Hiuling Chan Joiner, Przemyslaw Szafranski, Tomasz Gambin, Frank P Edenborough, Rachael E Thompson, Michael J Parker, Carrie Hammond, Shahin Moledina, Justyna A Karolak, Pawel Stankiewicz Jan 2026

Complex Genomic Rearrangement Involving The Tbx4 Promoter Manifesting With Variable Expressivity In A Five-Generation Family, Shruti A Pande, Hiuling Chan Joiner, Przemyslaw Szafranski, Tomasz Gambin, Frank P Edenborough, Rachael E Thompson, Michael J Parker, Carrie Hammond, Shahin Moledina, Justyna A Karolak, Pawel Stankiewicz

Faculty, Staff and Students Publications

Variants involving TBX4 are associated with ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension (ICPPS; also known as small patella syndrome), pulmonary arterial hypertension (PAH), and lethal lung developmental disorders. The variability of penetrance and expressivity of TBX4 variants remains a prominent challenge in understanding their genotype–phenotype correlations. We investigated a five‐generation family with 12 affected individuals presenting with isolated ICPPS, lung‐related manifestations with features of ICPPS, and other milder abnormalities. Whole‐genome sequencing was used to identify the causative and putative modifying variants. Wefound a complex genomic rearrangement (CGR) involving the TBX4 promoter and its 5 ′ untranslated region that …


Atrial Cardiomyopathy And Atrial Fibrillation In Different Heart Failure Substrates, Bharat K Kantharia, Lingling Wu, Mohit M Hulsurkar, Kaveh Karimzad, Arti N Shah, Bharat Narasimhan, Xander Ht Wehrens, Dominik Linz, Jordi Heijman Jan 2026

Atrial Cardiomyopathy And Atrial Fibrillation In Different Heart Failure Substrates, Bharat K Kantharia, Lingling Wu, Mohit M Hulsurkar, Kaveh Karimzad, Arti N Shah, Bharat Narasimhan, Xander Ht Wehrens, Dominik Linz, Jordi Heijman

Faculty, Staff and Students Publications

The incidences of AF and heart failure (HF) have been progressively increasing worldwide. These conditions exhibit a strong interdependence, with each exacerbating the other. HF is currently classified based on left ventricular ejection fraction (EF) as HF with reduced, mid-range or preserved EF (HFrEF, HFmrEF or HFpEF, respectively). Atrial cardiomyopathy, also known as atriopathy, involves structural, architectural, contractile, or electrophysiological alterations in the atria, driven by diverse mechanisms stemming from risk factors and comorbidities, including diabetes, hypertension, ischaemic and valvular heart diseases, hypertrophic and dilated cardiomyopathies, as well as various forms of HF. Emerging evidence also implicates infiltrative cardiomyopathies (e.g. …


Nod1 Is A Key Mediator Of Atrial Myopathy In Heart Failure, Marta Gil-Fernández, Almudena Val-Blasco, Andrea Bueno-Sen, Paula Cantolla-Pablo, Carlos Galán-Arriola, Ali Ayaon, Teresa López-Fernández, Yuriana Aguilar-Sanchez, Satadru K Lahiri, José Alberto Navarro-García, Rafael Peinado, Angel Aroca, Miguel Ángel Rubio, José Antonio Blázquez, María Tamayo, Eduardo López-Collazo, Gema Ruiz-Hurtado, Inmaculada Jorge, Jesús Vázquez, Patricia Prieto, Tarik Smani, Antonio Ordoñez, David Filgueiras-Dama, Raúl Moreno, Borja Rivero-Santana, Jorge Nuche, José Jalife, Borja Ibáñez, Carmen Delgado, Lisardo Boscá, Xander H T Wehrens, María Fernández-Velasco Jan 2026

Nod1 Is A Key Mediator Of Atrial Myopathy In Heart Failure, Marta Gil-Fernández, Almudena Val-Blasco, Andrea Bueno-Sen, Paula Cantolla-Pablo, Carlos Galán-Arriola, Ali Ayaon, Teresa López-Fernández, Yuriana Aguilar-Sanchez, Satadru K Lahiri, José Alberto Navarro-García, Rafael Peinado, Angel Aroca, Miguel Ángel Rubio, José Antonio Blázquez, María Tamayo, Eduardo López-Collazo, Gema Ruiz-Hurtado, Inmaculada Jorge, Jesús Vázquez, Patricia Prieto, Tarik Smani, Antonio Ordoñez, David Filgueiras-Dama, Raúl Moreno, Borja Rivero-Santana, Jorge Nuche, José Jalife, Borja Ibáñez, Carmen Delgado, Lisardo Boscá, Xander H T Wehrens, María Fernández-Velasco

Faculty, Staff and Students Publications

Heart failure (HF)-associated atrial myopathy is driven by complex and poorly understood mechanisms. Emerging evidence suggests that innate immune components contribute to atrial remodeling, yet the role of nucleotide-binding oligomerization domain-containing protein 1 (NOD1) receptors remains unclear.

Methods: NOD1 expression was characterized in atrial myocardium of HF patients (n = 36) and non-failing controls (n = 45) undergoing valve surgery, and in two porcine models of atrial myopathy with divergent ventricular phenotypes: aortic banding (AoB; preserved LVEF) and left atrial infarction (LAI; reduced LVEF). The causal role of NOD1 in atrial remodeling was assessed using genetic (Nod1⁻/⁻) and pharmacological …


High Potency Proton Pump Inhibitor Versus Vonoprazan In Helicobacter Pylori Triple Therapy, Mimi C Tan, Robert L Atmar, David Y Graham Jan 2026

High Potency Proton Pump Inhibitor Versus Vonoprazan In Helicobacter Pylori Triple Therapy, Mimi C Tan, Robert L Atmar, David Y Graham

Faculty, Staff and Students Publications

Background: The price of vonoprazan in the United States, as with many newly introduced drugs, is currently high. Here, we examined the cost-effectiveness of vonoprazan clarithromycin triple therapy for treatment of Helicobacter pylori in the United States. We compared cure rates and total treatment costs to achieve ≥ 90% cure with either vonoprazan or proton pump inhibitor (PPI) triple therapy.

Materials and methods: We simulated a theoretical population and compared 4 scenarios comparing vonoprazan 20 mg twice daily or esomeprazole 40 mg twice daily. These included: (1) empiric vonoprazan versus esomeprazole clarithromycin triple therapy, (2) susceptibility-based vonoprazan versus esomeprazole clarithromycin …


Limited Injury Severity Constrains Therapeutic Evaluation In A Mouse Model Of Mild Indirect Traumatic Optic Neuropathy, Christian S. Corbin Jan 2026

Limited Injury Severity Constrains Therapeutic Evaluation In A Mouse Model Of Mild Indirect Traumatic Optic Neuropathy, Christian S. Corbin

Science University Research Symposium (SURS)

Limited Injury Severity Constrains Therapeutic Evaluation in a Mouse Model of Mild Indirect Traumatic Optic Neuropathy

Christian Corbin, Ching Tzu Yu, Elisabeth Artis, Annie K. Ryan, Sequoia Wade, and Tonia S. Rex

Vanderbilt Eye Institute, Vanderbilt University Medical Center, Nashville, Tennessee, United States

Total (2,372/2500 with spaces)

Purpose: (140)

To evaluate therapeutic effects of Nicotinamide (NMN) and Cyclosporine in a mouse model of mild indirect traumatic optic neuropathy (iTON).

Methods: (915)

Mild iTON induction was accomplished via 3x15 psi air blasts in three-month old C57Bl/6 mice. The animals were anesthetized and placed in a chamber with a hole at the …


Commissioning & Daily Qa Of Converted Linac For Electron Flash, Tomaj Javidtash Jan 2026

Commissioning & Daily Qa Of Converted Linac For Electron Flash, Tomaj Javidtash

Theses and Dissertations

Ultra-high dose rate (FLASH) radiotherapy has demonstrated promising normal tissue sparing in preclinical studies; however, the lack of standardized dosimetry, commissioning, and quality assurance (QA) methodologies remains a major barrier to its reproducible and safe implementation. In particular, conventional clinical commissioning and QA protocols are not directly applicable at FLASH dose rates due to challenges associated with detector response, dose-per-pulse effects, and beam control limitations.

This thesis presents the commissioning of a converted Varian 21EX linear accelerator for electron FLASH operation within the Division of Medical Physics at the Virginia Commonwealth University (VCU) Department of Radiation Oncology. Comprehensive beam characterization …


Case Report: Primed Dendritic Cell Immunotherapy For Multiple Solid Tumors, Luis Ferbeyre, Gregorio Viramontes, Rafael Gonzalez, Elideth Angulo, Antonio Zamudio, Raul Hernandez, Stephen Noga, Susana Hernandez-Reyes, Paul Zhang, Darryl Smith, Ara Karamanian, Luis Tamara, Dalton Greenwood, Matthew Halpert Jan 2026

Case Report: Primed Dendritic Cell Immunotherapy For Multiple Solid Tumors, Luis Ferbeyre, Gregorio Viramontes, Rafael Gonzalez, Elideth Angulo, Antonio Zamudio, Raul Hernandez, Stephen Noga, Susana Hernandez-Reyes, Paul Zhang, Darryl Smith, Ara Karamanian, Luis Tamara, Dalton Greenwood, Matthew Halpert

Faculty, Staff and Students Publications

Many patients with advanced solid tumors ultimately develop resistance to conventional therapies, with especially limited options for those experiencing rapid progression or poor performance status, highlighting the need for personalized immunotherapies capable of inducing durable responses. In this retrospective case series, we describe the clinical course and outcomes of five adults (4 male, 1 female; median age 51 years [range, 39-62]) with metastatic solid tumors who achieved complete and durable remission following doubly loaded autologous dendritic cell therapy after failure of standard treatments, such as immune checkpoint inhibition, radiation, surgery, or endocrine therapy. Five patients, including prostate adenocarcinoma (n=1), malignant …


Plasma Kynurenine/Tryptophan Ratio As A Sensitive Blood-Based Diagnostic Tool For Tuberculosis: A Diagnostic Accuracy Study Among Children Living With Hiv, Clement G Adu-Gyamfi, Lillian Makhathini, Santiago C Longlax, Alexandra Portillo Varela, Karine Scheuermaier, Ntsiki Sikhondze, Kennedy Otwombe, Andrew Anthony Adjei, Neil Martinson, Alex Kay, Andrew R Dinardo, Anna M Mandalakas, Melinda Suchard Jan 2026

Plasma Kynurenine/Tryptophan Ratio As A Sensitive Blood-Based Diagnostic Tool For Tuberculosis: A Diagnostic Accuracy Study Among Children Living With Hiv, Clement G Adu-Gyamfi, Lillian Makhathini, Santiago C Longlax, Alexandra Portillo Varela, Karine Scheuermaier, Ntsiki Sikhondze, Kennedy Otwombe, Andrew Anthony Adjei, Neil Martinson, Alex Kay, Andrew R Dinardo, Anna M Mandalakas, Melinda Suchard

Faculty, Staff and Students Publications

Background: Pediatric tuberculosis (TB) is challenging to diagnose and confirm. The World Health Organization has prioritized development of non-sputum-based diagnostics. We investigated the role of plasma K/T ratio for TB diagnosis among children with and without HIV.

Methodology: Plasma tryptophan and kynurenine concentrations measured via enzyme-linked immunosorbent assay (ELISA) were used to calculate K/T ratios in a nested case-control design with an optimization cohort (the Lung Cohort Study (LCS)) and a validation cohort (the NIH Stool4TB. The discovery cohort included children with incident TB (n = 23) and age- and sex-matched controls (n = 75). The Stool4TB validation …


School-Level Gaps In Mmr Coverage As The Fuel For Measles Outbreaks, Lamia Ayaz, Peter J Hotez, Seyed M Moghadas, Alison P Galvani Jan 2026

School-Level Gaps In Mmr Coverage As The Fuel For Measles Outbreaks, Lamia Ayaz, Peter J Hotez, Seyed M Moghadas, Alison P Galvani

Faculty, Staff and Students Publications

No abstract provided.


Mindful Diagnostics In Culture-Negative Endocarditis: Early Noninvasive Diagnosis Of Tropheryma Whipplei By Plasma Microbial Cell-Free Dna, Laura C Lelenwa, Enrique Garcia-Sayan, Kenneth K Liao, Ahmed Hamdi, Todd Lasco, Mayar Al Mohajer Jan 2026

Mindful Diagnostics In Culture-Negative Endocarditis: Early Noninvasive Diagnosis Of Tropheryma Whipplei By Plasma Microbial Cell-Free Dna, Laura C Lelenwa, Enrique Garcia-Sayan, Kenneth K Liao, Ahmed Hamdi, Todd Lasco, Mayar Al Mohajer

Faculty, Staff and Students Publications

Tropheryma whipplei was identified by plasma microbial cell-free DNA sequencing within 4 days in severe culture-negative endocarditis after antibiotics had already been started. The result supported earlier diagnostic clarification and antimicrobial de-escalation before valve pathology was available, illustrating a practical diagnostic-stewardship role for noninvasive sequencing in high-acuity endocarditis.


Strategies And Challenges For The Recruitment Of Young Healthy Participants In The Dietary Approaches To Longevity And Health (Dial Health) Pilot Trial, 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, 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 …


Genomic And Structural Analysis Of Major Antigenic Proteins’ Variability In The Human Relapsing Fever Spirochete Borrelia Persica, 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, 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 …


Mark Hallett: Scientist And Humanitarian In Modern Movement Disorder Neurology Jan 2026

Mark Hallett: Scientist And Humanitarian In Modern Movement Disorder Neurology

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 …


Non-Congenital Hsv-1 Keratitis In An Immunocompetent 9-Month-Old Infant Jan 2026

Non-Congenital Hsv-1 Keratitis In An Immunocompetent 9-Month-Old Infant

Faculty, Staff and Students Publications

Isolated, non-congenital herpes simplex virus type 1 (HSV-1) keratitis in immunocompetent infants is exceedingly rare and may be easily misdiagnosed, leading to delays in appropriate antiviral therapy. This case is unique in that it describes HSV-1 keratitis in a healthy 9-month-old infant presenting without systemic illness, initially treated as bacterial conjunctivitis. The patient presented with unilateral eye pain, redness, and corneal opacification. Subsequent evaluation revealed HSV-1 keratitis, and the patient was treated with intravenous acyclovir in combination with topical moxifloxacin and topical ganciclovir, resulting in complete resolution of symptoms within one week. This case adds to the limited literature on …


Cerebellar Motor And Non-Motor Contributions To Dystonia Pathophysiology And Treatment, Linda H Kim, Cheryl Brandenburg, Roy V Sillitoe Jan 2026

Cerebellar Motor And Non-Motor Contributions To Dystonia Pathophysiology And Treatment, Linda H Kim, Cheryl Brandenburg, Roy V Sillitoe

Duncan NRI Faculty and Staff Publications

Dystonia is a complex neurological disorder characterized by sustained or intermittent abnormal movements and/or postures. However, dystonia's non-motor symptoms, particularly the sleep disturbances, are critical yet underexplored concerns that affect all ages. Here, we synthesize current knowledge on the motor and non-motor domains of dystonia, emphasizing the functional interconnections and plasticity within cerebellar motor, cognitive, and sleep-associated circuits to motivate more comprehensive and effective treatments that improve overall quality of life.


Telethon Undiagnosed Disease Program: Structured Approach To Solving Rare Childhood-Onset Genetic Diseases, Annalaura Torella, Manuela Morleo, Carmine Spampanato, Raffaele Castello, Mariateresa Zanobio, Giulio Piluso, Pasquale Di Letto, Maria Elena Onore, Sarah Iffat Rahman, Francesco Musacchia, Michele Pinelli, Giuseppina Vitiello, Giulia De Riso, Angelo Selicorni, Milena Mariani, Cecilia Daolio, Valeria Capra, Marcello Scala, Francesca Nardecchia, Serena Galosi, Mario Mastrangelo, Filippo Manti, Donatella Milani, Corrado Romano, Donatella Greco, Claudia Ciaccio, Stefano D'Arrigo, Arianna De Laurentiis, Antonietta Coppola, Marcella Zollino, Domizia Pasquetti, Federica Francesca L'Erario, Albina Tummolo, Claudia Santoro, Livia Garavelli, Carla Marini, Stefania Bigoni, Alfonsina Tirozzi, Viviana Cetrangolo, Giancarlo Parenti, Diego Di Bernardo, Angela Peron, Silvia Maitz, Andrea Accogli, Gerarda Cappuccio, Sandro Banfi, Giorgio Casari, Andrea Ballabio, Nicola Brunetti-Pierri, Vincenzo Nigro, Telethon Undiagnosed Disease Study Group Jan 2026

Telethon Undiagnosed Disease Program: Structured Approach To Solving Rare Childhood-Onset Genetic Diseases, Annalaura Torella, Manuela Morleo, Carmine Spampanato, Raffaele Castello, Mariateresa Zanobio, Giulio Piluso, Pasquale Di Letto, Maria Elena Onore, Sarah Iffat Rahman, Francesco Musacchia, Michele Pinelli, Giuseppina Vitiello, Giulia De Riso, Angelo Selicorni, Milena Mariani, Cecilia Daolio, Valeria Capra, Marcello Scala, Francesca Nardecchia, Serena Galosi, Mario Mastrangelo, Filippo Manti, Donatella Milani, Corrado Romano, Donatella Greco, Claudia Ciaccio, Stefano D'Arrigo, Arianna De Laurentiis, Antonietta Coppola, Marcella Zollino, Domizia Pasquetti, Federica Francesca L'Erario, Albina Tummolo, Claudia Santoro, Livia Garavelli, Carla Marini, Stefania Bigoni, Alfonsina Tirozzi, Viviana Cetrangolo, Giancarlo Parenti, Diego Di Bernardo, Angela Peron, Silvia Maitz, Andrea Accogli, Gerarda Cappuccio, Sandro Banfi, Giorgio Casari, Andrea Ballabio, Nicola Brunetti-Pierri, Vincenzo Nigro, Telethon Undiagnosed Disease Study Group

Duncan NRI Faculty and Staff Publications

Purpose: Many children with severe genetic disorders remain undiagnosed despite advanced genomic technologies. Early diagnosis is vital for prognosis, genetic counseling, and targeted treatment development. This study aims to increase diagnostic rates in complex pediatric cases and foster research into disease mechanisms.

Methods: Launched in 2016, the Telethon Undiagnosed Diseases Program provides a structured, multicenter approach to rare disease diagnosis. Standardized case submission criteria ensured consistent clinical data collection. Children with severe, multisystemic disorders and prior negative genetic tests were eligible. After case approval, trio-based exome sequencing was performed, with regular reanalysis for unsolved cases until December 2024.

Results: Between …


Rare But Relevant? Assessing Variants In Dystonia-Linked Genes In Parkinson's Disease, 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, 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 …


Driving Impairment In Patients With Movement Disorders: Examining The Baylor Driving Questionnaire By Objective Driving Assessment, Alan Gonzalez, Rory D Mahabir, Joseph Jankovic Jan 2026

Driving Impairment In Patients With Movement Disorders: Examining The Baylor Driving Questionnaire By Objective Driving Assessment, Alan Gonzalez, Rory D Mahabir, Joseph Jankovic

Faculty, Staff and Students Publications

Background: The development of a screening tool to identify driving impairment in patients with movement disorders is an unmet need.

Objective: To validate Baylor Driving Questionnaire for Movement Disorders (BDQMD) by objective driving assessment (ODA).

Methods: In this cross-sectional study, 142 patients with various movement disorders completed the 10-item BDQMD and of those, 25 completed ODA using the driver performance analysis system (DPAS).

Results: The mean total BDQMD score for the whole cohort was 14.7 ± 5.6 (range 10-47). Patients who underwent ODA had a mean BDQMD score of 12.8 ± 2.9. Four had minimum driving skill, 20 had average, …


Case Report: Molecular Diagnostics And Clinical Courses Of Two Adult Spinal Pilocytic Astrocytoma Long-Term Survivors With Gtf2i::Braf Fusion, 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, 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 …


A Nonlinear Relationship Of Evoked Responses Following Charge-Balanced Single-Pulse Electrical Stimulation With Varying Pulse Widths, Meghan E Robinson, Denise Oswalt, Garrett P Banks, Atul Maheshwari, Lu Lin, Ben Shofty, Mohammed Hasen, Alica Goldman, Eleonora Bartoli, Sarah R Heilbronner, Kelly R Bijanki Jan 2026

A Nonlinear Relationship Of Evoked Responses Following Charge-Balanced Single-Pulse Electrical Stimulation With Varying Pulse Widths, Meghan E Robinson, Denise Oswalt, Garrett P Banks, Atul Maheshwari, Lu Lin, Ben Shofty, Mohammed Hasen, Alica Goldman, Eleonora Bartoli, Sarah R Heilbronner, Kelly R Bijanki

Faculty, Staff and Students Publications

Background: Single-pulse electrical stimulation (SPES) can help guide neuromodulation therapy in an iterative process to reveal ideal circuits and degrees of engagement. Understanding the relationship between parameter input and neural output will be necessary both to build informative models of the brain's functional connectivity and to improve responses to stimulation-based neuromodulation therapies. Modulating pulse width alters the total charge delivered to neural tissue and is thought to selectively activate fibers with different diameters, potentially shifting therapeutic thresholds. The anterior cingulate cortex (ACC) and orbitofrontal cortex (OFC) are of great clinical relevance to the pathophysiology and treatment of neuropsychiatric disorders.

Objective: …


Cultured Ex Vivo Human Brain Tissue Maintains Cell-Type Transcriptional Identities, Joshua Ortiz-Guzman, Benjamin D W Belfort, Suyang Bao, Snigdha Srivastava, Maria Morkas, Emily Ji, Kalman A Katlowitz, Angela Addison, Evelyne K Tantry, Carrie A Mohila, Melissa M Blessing, Nisha Gadgil, Samuel G Mcclugage, David F Bauer, William E Whitehead, Guillermo Aldave, Omar Tanweer, Naser Jaleel, Ali Jalali, Akash J Patel, Sameer A Sheth, Howard L Weiner, Shankar Gopinath, Ganesh Rao, Akdes Serin Harmanci, Daniel Curry, Benjamin R Arenkiel Jan 2026

Cultured Ex Vivo Human Brain Tissue Maintains Cell-Type Transcriptional Identities, Joshua Ortiz-Guzman, Benjamin D W Belfort, Suyang Bao, Snigdha Srivastava, Maria Morkas, Emily Ji, Kalman A Katlowitz, Angela Addison, Evelyne K Tantry, Carrie A Mohila, Melissa M Blessing, Nisha Gadgil, Samuel G Mcclugage, David F Bauer, William E Whitehead, Guillermo Aldave, Omar Tanweer, Naser Jaleel, Ali Jalali, Akash J Patel, Sameer A Sheth, Howard L Weiner, Shankar Gopinath, Ganesh Rao, Akdes Serin Harmanci, Daniel Curry, Benjamin R Arenkiel

Faculty, Staff and Students Publications

There is growing recognition of the need for human-based models of the nervous system and its diseases. Studies have investigated the electrophysiological properties of neurons in ex vivo human brain tissue, but the maintenance of other cell types remains unclear. We therefore used single-nucleus RNA sequencing of six patient samples to determine how well various cell types maintain their transcriptional identities over two weeks in organotypic slice culture (day 0, with 83 501 nuclei, and day 14, with 45 738). For each patient sample (two pediatric temporal lobectomies, one adult frontal cortex, two glioblastomas, and one medulloblastoma), we generated correlations …


The Role Of Hospitality In Neurosurgery Jan 2026

The Role Of Hospitality In Neurosurgery

Faculty, Staff and Students Publications

Background: "Business, like life, is all about how you make people feel. It's that simple and it's that hard" says Danny Meyer, the restauranteur and CEO of the Union Square Hospitality Group in New York. Similarly, Maya Angelou famously said that people will never forget how you made them feel, though they may forget what you said or did. In neurosurgery, we are doing two things at once: something very technical and something very human. The core thesis of this hospitality philosophy is that whereas the technical aspect of our job is critically important, it represents 49% of our success. …


Surgical Outcomes And Learning Curve Of Robotic Single-Port Vaginal Natural Orifice Transluminal Endoscopic Surgery (Vnotes) Hysterectomy Using The Da Vinci Single-Port System Jan 2026

Surgical Outcomes And Learning Curve Of Robotic Single-Port Vaginal Natural Orifice Transluminal Endoscopic Surgery (Vnotes) Hysterectomy Using The Da Vinci Single-Port System

Faculty, Staff and Students Publications

Objective: This study aims to assess the surgical outcomes and learning curve of robotic single-port vaginal natural orifice transluminal endoscopic surgery (RSP-vNOTES) for hysterectomy in benign gynecologic conditions.

Materials and methods: A retrospective observational analysis was conducted of 97 consecutively enrolled patients who underwent RSP-vNOTES hysterectomy using the da Vinci (single-port) SP system between December 2023 and July 2025 at a single tertiary care center.

Results: Median procedural durations included a total operative time of 151 minutes, a port placement time of five minutes, a docking time of two minutes, a robotic console time of 78 minutes, and a hysterectomy …


Combination Therapy With 308-Nm Excimer Laser, Compound Glycyrrhizin, And Tacrolimus For Pediatric Facial And Cervical Vitiligo, Qian Chen, Siyuan Song, Ting Zhang Jan 2026

Combination Therapy With 308-Nm Excimer Laser, Compound Glycyrrhizin, And Tacrolimus For Pediatric Facial And Cervical Vitiligo, Qian Chen, Siyuan Song, Ting Zhang

Faculty, Staff and Students Publications

Background: Vitiligo is a common acquired depigmenting disorder in pediatric dermatology. Facial and cervical involvement is particularly distressing due to cosmetic disfigurement, leading to psychosocial impairment in children and significant psychological burden for parents. Safe and effective treatment strategies to halt disease progression and promote repigmentation are urgently needed.

Objective: To evaluate the clinical efficacy, onset of repigmentation, safety, and repigmentation patterns of 308-nm excimer laser combined with oral compound glycyrrhizin and topical 0.03% tacrolimus in children with facial and cervical vitiligo.

Methods: A total of 112 pediatric patients were randomized into two groups: treatment group (n=56, 86 lesions) received …


Common And Recurrent Dysregulated Molecular Network Of Placental Hypoxia And Associated Vasculogenesis And Angiogenesis In Fetal Growth Restriction, Maran Bo Wah Leung, So Ling Lau, Chi Chiu Wang, Tak Yeung Leung Jan 2026

Common And Recurrent Dysregulated Molecular Network Of Placental Hypoxia And Associated Vasculogenesis And Angiogenesis In Fetal Growth Restriction, Maran Bo Wah Leung, So Ling Lau, Chi Chiu Wang, Tak Yeung Leung

Faculty, Staff and Students Publications

Fetuses with fetal growth restriction (FGR) and selective FGR (sFGR) face elevated health risks both before and after birth. Although the underlying pathomechanisms remain unclear, placental dysfunction is recognized as a major contributing factor. By integrating untargeted transcriptomic data from FGR/sFGR placentae, this study identified 69 differentially expressed mRNAs (DEmRs) and eight differentially expressed miRNAs (DEmiRs). Functional enrichment analysis demonstrated significant enrichment in the angiogenesis and vasculogenesis pathways, with the hypoxia-related genes


A Comparative Analysis Of The Sport Mental Health Assessment Tool (Smhat-1) Between Paediatric And Adult Olympic And Paralympic Athletes, Jessica Bartley, Jeffrey S Shilt, Eric L Dugan, Amber Donaldson, Jonathan Finnoff, William M Adams Jan 2026

A Comparative Analysis Of The Sport Mental Health Assessment Tool (Smhat-1) Between Paediatric And Adult Olympic And Paralympic Athletes, Jessica Bartley, Jeffrey S Shilt, Eric L Dugan, Amber Donaldson, Jonathan Finnoff, William M Adams

Faculty, Staff and Students Publications

Objective: To determine if paediatric athletes exhibit differences in positive screenings on the Sport Mental Health Assessment Tool (SMHAT-1) compared with adults.

Methods: Team USA Olympic and Paralympic paediatric athletes ≤21 years (n=589; 58.8% female; age=19.5±1.7 years) completed the SMHAT-1 between January 2021 and September 2024. A comparative sample of Team USA adult athletes (n=493, 54.2% female; age=27.3±4.9 years) matched for sex and sport was randomly sampled, and the percentage of athletes with a positive screening on each questionnaire was calculated. χ2 analysis compared the proportion of positive screenings between paediatric and adult samples. Piecewise linear regression assessed the association …


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, 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, 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., 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., 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 …