Digital Commons Network^™

Streamlining Eligibility Assessment For Alzheimer’S Disease-Modifying Therapies: Prediction Of Mmse Scores Using The Digital Clock And Recall, Ali Jannati, Claudio Toro-Serey, Marissa Ciesla, Emma Chen, John Showalter, David Bates, Alvaro Pascual-Leone, Sean Tobyne

Faculty, Staff and Students Publications

           Introduction: The eligibility of anti-amyloid disease-modifying therapies (DMTs) and their integration into clinical practice in some institutions requires a specific range of Mini-Mental State Examination (MMSE) scores. Reliance on this pencil-and-paper psychometric instrument imposes operational burdens and risks of perpetuating health disparities, given the test's known educational and cultural biases. This study evaluates the efficacy of the Digital Clock and Recall (DCR™)-a rapid, FDA-listed digital cognitive assessment-to crosswalk to MMSE scores using machine learning, thereby offering a faster, scalable, and equitable mechanism for patient triage.

Methods: We conducted a retrospective analysis using data from the multi-site Bio-Hermes-001 (BH) study ( …

Performance And Improvement Strategies For Adapting Generative Large Language Models For Electronic Health Record Applications: A Systematic Review, Xinsong Du, Zhengyang Zhou, Yifei Wang, 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 …

Partnerships To Advance Patient Safety And Address Preventable Harm: Case Studies From International Health Care Leaders, Rachel Bonesteel, Robert Saunders, Tilithia Mcbride, Susan Sheridan, David W Bates, Mark Mcclellan, Charles H Kahn, Eyal Zimlichman

Faculty, Staff and Students Publications

There have been notable improvements in patient safety in recent years; however, significant challenges remain in reducing the incidence of preventable patient harm. Supporting patient safety efforts is increasingly important given increasing complexity of care and changing health needs, especially with aging populations. Emerging technologies and capabilities open new possibilities to address longstanding patient safety problems. For example, predictive analytics to support provider decision-making, increased patient interest in engagement in their care, and artificial intelligence provide opportunities to further reduce harm. Many of these examples support a more proactive approach to patient safety by focusing on anticipating, predicting, and preventing …

Information Law Pluralism, Hannah Bloch-Wehba

Faculty Scholarship

Information-intensive activities are reshaping political, social, and economic institutions. As they respond to these shifts, legislators and regulators are embracing information as a regulatory device for tech. Far from limiting themselves to public disclosure, consumer notice, and other traditional mechanisms of fostering transparency and information flows, however, legislators are using other, more nuanced tools to incentivize regulated entities to obtain, generate, and share information.

This Article maps the landscape of the emerging information-based regimes for regulating tech and assesses their conceptual and practical implications. It canvasses an extensive set of recently enacted laws regulating the information economy and shows that, …

Equal Justice & Generative Ai, Milan R. Markovic

Faculty Scholarship

The United States has long suffered from unequal access to justice, with countless low-and middle-income Americans forced to navigate the legal system alone. Recently, prominent judges, lawyers, and scholars have seized on generative AI as a potential corrective. These techno-optimists maintain that ChatGPT and other large language models can demystify the law and address unmet legal needs. Chief Justice John Roberts has proclaimed that AI-based tools "have the welcome potential to smooth out any mismatch between available resources and urgent needs in our court system."

Although AI will be an increasingly important source of legal assistance for underserved populations, the …

Large Language Models For Neurology: A Mini Review, Donald C. Wunsch, Daniel B. Hier

Electrical and Computer Engineering Faculty Research & Creative Works

Large language models have the potential to transform neurology by augmenting diagnostic reasoning, streamlining documentation, and improving workflow efficiency. This Mini Review surveys emerging applications of large language models in Alzheimer's disease, Parkinson's disease, multiple sclerosis, and epilepsy, with emphasis on ambient documentation, multimodal data integration, and clinical decision support. Key barriers to adoption include bias, privacy, reliability, and regulatory alignment. Looking ahead, neurology-focused language models may develop greater fluency in biomedical ontologies and FHIR standards, improving data interoperability and supporting more seamless collaboration between clinicians and AI systems. Two future developments have the potential to be particularly impactful: (1) …

Evaluation Of Multiple Generative Large Language Models On Neurology Board-Style Questions, Mohammad Almomani, Vijaya Valaparla, James Weatherhead, Xiang Fang, Alok Dabi, Chih Ying Li, Peter Mccaffrey, Dan Hier, Jorge Mario Rodríguez-Fernández

Electrical and Computer Engineering Faculty Research & Creative Works

Objective: To compare the performance of eight large language models (LLMs) with neurology residents on board-style multiple-choice questions across seven subspecialties and two cognitive levels. Methods: In a cross-sectional benchmarking study, we evaluated Bard, Claude, Gemini v1, Gemini 2.5, ChatGPT-3.5, ChatGPT-4, ChatGPT-4o, and ChatGPT-5 using 107 text-only items spanning movement disorders, vascular neurology, neuroanatomy, neuroimmunology, epilepsy, neuromuscular disease, and neuro-infectious disease. Items were labeled as lower- or higher-order per Bloom's taxonomy by two neurologists. Models answered each item in a fresh session and reported confidence and Bloom classification. Residents completed the same set under exam-like conditions. Outcomes included overall and …

Multi-Parameter Optimization And Adaptive Temperature Compensation For Fbg Strain Sensors In Wide-Temperature-Range Aerospace Applications, Ruling Zhou, Jiacheng Yu, Yutang Dai, Jianguan Tang, Minghong Yang, Farhan Mumtaz

Electrical and Computer Engineering Faculty Research & Creative Works

Accurate strain measurement in cryogenic fuel pipelines is crucial for ensuring the structural integrity and reliability of rocket engine systems operating under extreme thermal conditions. Fiber Bragg grating (FBG) sensors show significant potential for such applications; however, their inherent temperature-strain cross-sensitivity limits performance over wide temperature ranges. This research presents an enhanced compensation strategy combining multi-parameter optimization with temperature-zone-specific adaptation to improve the accuracy and stability of FBG-based strain sensing in harsh aerospace environments. Four special steel substrate materials including S03, S06, S07, and 1Cr18Ni9Ti, were evaluated using strain transfer theory and thermo-mechanical coupling simulations. Genetic algorithms optimized key design …

Safe Optimal Control Framework For Cooperative Manipulation Of Objects In Human–Robot Teams, Irfan Ganie, Sarangapani Jagannathan

Electrical and Computer Engineering Faculty Research & Creative Works

This article introduces a distributed deep neural network (NN)-based adaptive control framework for cooperative object manipulation in human–robot teams with unknown agent dynamics by using three distinct multilayer NN observers (MNNOs). The first observer, termed the reference point estimator, enables each robotic agent to estimate the object's reference center using consensus-based learning, even without direct access to global reference trajectories. The second observer, referred to as the human force-to-trajectory estimator, uses human-applied forces to infer the intended position, velocity, and acceleration of the object, enabling real-time estimation of human intent. Together, these two observers allow distributed estimation of human-intended motion. …

High-Resolution, Fast-Response Optical Fiber Temperature Sensor With A Large Measurement Range Based On Fiber-Tip Alumina Fabry-Pérot Interferometer, Ruimin Jie, Chen Zhu, Robert Abbott, Michael Davis, Xiong Zhang, Jie Huang

Electrical and Computer Engineering Faculty Research & Creative Works

We present an alumina-tip optical fiber Fabry-Pérot interferometric temperature sensor exhibiting high-temperature performance, rapid response, and high resolution. Fabricated by fusion splicing an alumina micro disk directly to a single-mode fiber, the sensor achieves robust, stable operation without complex fabrication processes or adhesives. Experimental evaluation confirms a measurement range extending to 1000°C, with sensitivity of 28.66 pm/°C, a resolution of 0.042°C, and a rapid response time of approximately 13 ms. Compared to state-of-the-art optical fiber FPI sensors, our alumina-tip sensor offers superior overall performance, effectively addressing critical demands for high-resolution, fast-response temperature measurement in extreme environments including aerospace, structural monitoring, …

Embeddable Optical Fiber Sensor For Simultaneous Strain And Temperature Monitoring, Amardeep Kaur, Sudharshan Anandan, Steve Eugene Watkins, Yinan Zhang, Kumbla Chandrashekhara, Hai Xiao

Electrical and Computer Engineering Faculty Research & Creative Works

We present an embeddable hybrid optical fiber sensor based on a cascaded extrinsic Fabry–Pérot interferometer (EFPI) and intrinsic Fabry–Pérot interferometer (IFPI) for simultaneous strain and temperature monitoring in high-performance composite materials. The sensor is fabricated using femtosecond laser micromachining and is embedded within bismaleimide composite laminates manufactured via an out-of-autoclave process. Experimental results demonstrate linear and decoupled responses to strain and temperature, with the EFPI showing minimal temperature sensitivity (1.7 pm/°C) and the IFPI exhibiting high temperature sensitivity (16.1 pm/°C). Strain sensitivities for both components were consistent at 0.6pm/με in embedded conditions. The sensor maintained structural integrity and stable spectral …

Integrating Optical And Radiofrequency Interferometry For Enhanced Phase Sensing, Ruimin Jie, Zhaopeng Zhang, Chen Zhu, Jie Huang

Electrical and Computer Engineering Faculty Research & Creative Works

Interferometry is a crucial investigative technique used across diverse fields to achieve high-precision measurements. It works by analyzing the phase difference between two interfering waves, which results from variations in optical path lengths within an interferometer. We introduce a novel method for directly measuring changes in the phase difference within an optical interferometer, importantly, with the added advantage of a controllable enhancement factor. This approach is achieved through a two-step process: first, the optical phase difference is encoded into a sub-GHz radiofrequency (RF) signal using microwave-photonic manipulation; then, RF interferometry-assisted phase amplification is implemented at the destructive interference point. In …

Online Lifelong Optimal Adaptive Control Of Partially Uncertain Strict Feedback Discrete-Time Systems With Application To Quadrotor Uavs, Maxwell Geiger, Sarangapani Jagannathan

Electrical and Computer Engineering Faculty Research & Creative Works

This article considers the infinite time horizon optimal adaptive tracking control of partially uncertain strict feedback discrete-time (DT) systems with application to quadrotor uncrewed aerial vehicles (UAVs). First, the strict feedback DT system is transformed into an equivalent affine nonlinear DT system in terms of the tracking error dynamics. The optimal adaptive tracking control problem is solved using an augmented system approach, where a horizon of future bounded reference trajectory points is used in the augmented state, when compared to using a single point. It is assumed that the internal dynamics of the strict feedback system are unknown, but the …

Resolving Stiffness Trade-Offs In Simultaneous Pressure And Vibration Sensing Using A Corrugated-Tube Fiber-Optic Sensor, Yizheng Chen, Yan Tang, Jie Huang, Qi Zhang, Biyao Shi, Zewei Wu

Electrical and Computer Engineering Faculty Research & Creative Works

This article proposes and experimentally demonstrates a corrugated-tube-based fiber-optic sensor capable of measuring pressure, vibration, or both simultaneously. To address the limited sensitivity of conventional diaphragm-based designs, the sensor incorporates an optimized corrugated tube that balances the conflicting stiffness requirements for pressure and vibration measurements. The corrugated tube, acting as a mechanical transducer, is integrated with an extrinsic fiber-optic Fabry–Perot interferometer (EFPI). The EFPI cavity is formed between a reflective surface at the sealed end of the corrugated tube and the cleaved end face of an optical fiber fixed within a mounting assembly. In this configuration, displacement of the corrugated …

Effect Of Sample Properties On Short-Circuited Waveguide Measurements For Materials Characterization, Alexander Hook, Jared Sinkey, Kristen M. Donnell

Electrical and Computer Engineering Faculty Research & Creative Works

Microwave materials characterization measurements can be performed using a number of well-established approaches. One such approach, the filled transmission line approach featuring a short-circuited rectangular waveguide (SC-RWG) sample holder, is known to have sample placement restrictions related to measurement viability. This work focuses on this approach and addresses the measurement restrictions within the context of sample length and dielectric properties. The complex reflection properties, S11, of a sample placed in a SC-RWG sample holder are studied to quantitively define when a sample must be offset from the SC-end. The impact of the sample holder is also studied from a measurement …

Femtosecond-Laser-Inscribed Cladding Fiber Bragg Gratings: Architectures, Design Trade-Offs And Future Sensing Opportunities, Koustav Dey, Rex E. Gerald, Chen Zhu, Jie Huang

Electrical and Computer Engineering Faculty Research & Creative Works

Femtosecond (fs) laser inscription enables fiber Bragg gratings (FBGs) to be positioned beyond the fiber core, including within the cladding, thereby expanding control over modal interactions and directional sensing. These cladding fiber Bragg gratings (CLFBGs) extend FBG functionality through interactions with core, cladding, and evanescent fields. Their operation does not involve fundamentally different grating physics; rather, core-mode, cladding-mode, and coupled-mode responses depend on power distribution, modal overlap with the laser-inscribed refractive-index modulation (RIM), grating position, fiber geometry, modal excitation, and interrogation configuration. This Perspective reviews advances in CLFBG fabrication, optical characteristics, sensing mechanisms, and applications. Cladding-waveguide-assisted, evanescent-field-coupled, and direct cladding-mode-excitation …

Organ Chips And Translational Research: Identifying And Examining New Ethical Issues, Melanie Jeske

Center for Medical Ethics and Health Policy Staff Publications

Organ chips, also known as organ-on-a-chip devices, tissue chips, or microphysiological systems, have emerged over the last decade as a promising translational technology amidst growing concern about the translational crisis between laboratory research and patient bedside. Pointing to high rates of failure between nonhuman animal models and safety and efficacy in humans, organ chips and similar new approach methods have attracted substantial public and private investment. As human-cell-based alternatives to animal models, organ chips promise more predictive, efficient, and ethical platforms for pharmaceutical and toxicity testing. Engineered cultivation systems that enable cells to assemble into tissue-like structures (e.g. kidney, brain, …

Anything But Endo: Diagnostic Buck-Passing In Endometriosis Diagnosis, Rita Dexter, Megan Kitts, Heather Welty, Melanie Jeske

Center for Medical Ethics and Health Policy Staff Publications

People living with endometriosis, a disease in which tissue similar to the lining of the uterus grows elsewhere in the body, often experience prolonged diagnostic journeys because of symptom variability, normalisation of period pain and other symptoms, and lack of awareness of the condition. In this article, we analyse the endometriosis diagnostic journey through the lens of epistemic injustice. Drawing on in-depth interviews with 52 people living with endometriosis in the United States, we introduce the concept of diagnostic buck-passing to characterise the phenomenon wherein individuals who seek treatment for their symptoms end up stuck in a cycle of seeing …

Differences Between Government, Consortium, And Private Database Stewards Impacting The Genomic Data Market: A Survey Of U.S. Academic Genetic Researchers., Amanda K Greene, J Denard Thomas, Kaitlyn Jaffe, Luyun Chen, Kerry A Ryan, Brian J Zikmund-Fisher, J Scott Roberts, Amy L Mcguire, Katherine Hendy, Kayte Spector-Bagdady

Center for Medical Ethics and Health Policy Staff Publications

Background: Despite major shifts in U.S. federal government data sharing requirements, their impact, and relation to researcher choice of database, are underexplored. This study surveyed genetic researchers regarding trends, priorities, perceptions of quality, impact on research outcomes, and genomic data sharing and use across government, consortium, and private databases.

Methods: As part of an exploratory sequential mixed methods project, we surveyed 294 U.S.-based genomic academic researchers.

Results: Genetic researchers generally have a choice between databases, which allows them to prioritize data quality. This might explain recent trends toward the use of government and consortium databases away from private ones. Respondents …

Can I Get A Witness? The Ethical Dimensions Of Family Presence In Patient Suffering, Jennifer Blumenthal-Barby, Trevor M Bibler, Holland Kaplan, Adam Omelianchuk, Joanna Smolenski

Center for Medical Ethics and Health Policy Staff Publications

For patients who are suffering, the bedside presence of a family member can provide comfort, and many people hold that there is moral value in being present with a conscious, suffering patient. Yet what is the moral significance of the absence of family members when a patient is minimally conscious or unconscious and not aware of their absence? Clinicians are often troubled when family members and surrogate decision-makers who are able to spend a significant amount of time at an unconscious, seriously ill patient's bedside do not do so. Clinicians feel frustrated that they must bear the burden of witnessing …

Clinicians’ Views On A Patient Decision Aid For Deep Brain Stimulation In Parkinson’S Disease, Hillary S King, Jennifer Blumenthal-Barby, Benjamin H Levi, Sol De Jesus, Harini Sarva, Laura Y Cabrera

Center for Medical Ethics and Health Policy Staff Publications

Introduction: For people with Parkinson's disease (PD), deciding whether to pursue deep brain stimulation (DBS) has become increasingly complex. Evidence suggests current approaches to collaborative decision-making may fall short of accepted standards. Thus, a decision support intervention, such as a patient decision aid (PtDA) may be warranted. PtDAs have been shown to improve patients' knowledge, expectations, and participation in decision-making for other, similar healthcare decisions. We therefore sought to assess neurologists' awareness of, and experience using, PtDAs, and to solicit their opinions on the ideal features of a PtDA for PD patients considering DBS.

Methods: Sixteen United States-based neurology clinicians …

Toward Ethical Provenance Tracking: The Ga4gh Model Data Access Agreement (Daa), Alexander Bernier, Bartha Maria Knoppers, Jonathan Lawson, Robyn Mcdougall, Maili Raven-Adams, Vasiliki Rahimzadeh

Center for Medical Ethics and Health Policy Staff Publications

Purpose: Standardizing contractual clauses that govern data access enables research institutions to responsibly steward genomic and related health data while enabling its efficient downstream reuse.

Methods: We describe a document analysis study using both qualitative and comparative law analytical approaches to identify the most common categories of clauses from 29 different data access agreements used by human biomedical research consortia globally. We furthermore characterized the legal positions and standard practices for each common element of the agreement and synthesized across them to develop model clauses. A total of 3 discussion sessions were organized virtually to refine the clauses among members …

Imagining Genomics And Population Health In 2050: Anticipating Future Research, Policy, And Governance Needs, Bartha Maria Knoppers, Yann Joly, Ma Apos N H Zawati, Habiba Alsafar, Jeffrey C Barrett, Laura Blackburn, Brian Hon-Yin Chung, Martina C Cornel, Edward S Dove, David Glazer, Calvin Wai-Loon Ho, Muin J Khoury, Anna C F Lewis, Anneke Lucassen, Peter F R Mills, Colin Mitchell, Nicola Mulder, Ainsley J Newson, Anthony Ng, Paul D P Pharoah, Vasiliki Rahimzadeh, Megan C Roberts, Saskia C Sanderson, Jeffrey M Skopek, Ron Zimmern, Eric M Meslin

Center for Medical Ethics and Health Policy Staff Publications

No abstract provided.

Genome-Wide Gene-Sleep Interaction Study Identifies Novel Lipid Loci In 732,564 Participants, Raymond Noordam, Wenyi Wang, Pavithra Nagarajan, Heming Wang, Michael R Brown, Amy R Bentley, Qin Hui, Aldi T Kraja, John L Morrison, Jeffrey R O'Connel, Songmi Lee, Karen Schwander, Traci M Bartz, Lisa De Las Fuentes, Mary F Feitosa, Xiuqing Guo, Xu Hanfei, Sarah E Harris, Zhijie Huang, Mart Kals, Christophe Lefevre, Massimo Mangino, Yuri Milaneschi, Peter J Van Der Most, Natasha L Pacheco, Nicholette D Palmer, Varun Rao, Rainer Rauramaa, Quan Sun, Yasuharu Tabara, Dina Vojinovic, Yujie Wang, Stefan Weiss, Qian Yang, Wei Zhao, Wanying Zhu, Md Abu Yusuf Ansari, Hugues Aschard, Pramod Anugu, Themistocles L Assimes, John Attia, Laura D Baker, Christie Ballantyne, Lydia Bazzano, Eric Boerwinkle, Brain Cade, Hung-Hsin Chen, Wei Chen, Yii-Der Ida Chen, Zekai Chen, Kelly Cho, Ileana De Anda-Duran, Latchezar Dimitrov, Anh Do, Todd Edwards, Tariq Faquih, Aroon Hingorani, Susan P Fisher-Hoch, J Michael Gaziano, Sina A Gharib, Ayush Giri, Mohsen Ghanbari, Hans Jörgen Grabe, Mariaelisa Graff, C Charles Gu, Jiang He, Sami Heikkinen, James Hixson, Yuk-Lam Ho, Michelle M Hood, Serena C Houghton, Carrie A Karvonen-Gutierrez, Takahisa Kawaguchi, Tuomas O Kilpeläinen, Pirjo Komulainen, Henry J Lin, Gregorio V Linchangco, Annemarie I Luik, Jintao Ma, James B Meigs, Joseph B Mccormick, Cristina Menni, Ilja M Nolte, Jill M Norris, Lauren E Petty, Hannah G Polikowsky, Laura M Raffield, Stephen S Rich, Renata L Riha, Thomas C Russ, Edward A Ruiz-Narvaez, Colleen M Sitlani, Jennifer A Smith, Harold Snieder, Tamar Sofer, Botong Shen, Jingxian Tang, Kent D Taylor, Maris Teder-Laving, Rima Triatin, Michael Y Tsai, Henry Völzke, Kenneth E Westerman, Rui Xia, Jie Yao, Kristin L Young, Ruiyuan Zhang, Alan B Zonderman, Xiaofeng Zhu, Jennifer E Below, Simon R Cox, Michelle Evans, Myriam Fornage, Ervin R Fox, Nora Franceschini, Sioban D Harlow, Elizabeth Holliday, M Arfan Ikram, Tanika Kelly, Timo A Lakka, Deborah A Lawlor, Changwei Li, Ching-Ti Liu, Reedik Mägi, Alisa K Manning, Fumihiko Matsuda, Alanna C Morrison, Matthias Nauck, Kari E North, Brenda Wjh Penninx, Michael A Province, Bruce M Psaty, Jerome I Rotter, Tim D Spector, Lynne E Wagenknecht, Ko Willems Van Dijk, Lifelines Cohort Study, Million Veteran Program, Cashell E Jaquish, Peter Wf Wilson, Patricia A Peyser, Patricia B Munroe, Paul S De Vries, W James Gauderman, Yan V Sun, Han Chen, Clint L Miller, Thomas W Winkler, Dabeeru C Rao, Susan Redline, Diana Van Heemst

Faculty, Staff and Student Publications

Background and aims: Deviations from the population mean in sleep duration have been associated with increased risk for developing dyslipidemia and atherosclerotic cardiovascular disease, but the mechanism of effect is poorly characterized. We performed large-scale genome-wide gene-sleep interaction analyses of lipid levels to identify genetic variants underpinning the biomolecular pathways of sleep-associated lipid disturbances and to suggest possible druggable targets.

Methods: We collected data from 55 cohorts with a combined sample size of 732,564 participants (87 % European ancestry) with data on lipid traits (high-density lipoprotein [HDL-c] and low-density lipoprotein [LDL-c] cholesterol and triglycerides [TG]). Short (STST) and long (LTST) …

Spatial Evolution In Temporal Dynamics Of Hemodynamic Response Function In Human Superior Colliculi With Ultra-High-Resolution Mri At 9.4t, Nooshin J Fesharaki, Artemy Vinogradov, David Ress, Jung Hwan Kim

Faculty, Staff and Student Publications

The superior colliculus (SC) plays a crucial role in multisensory integration, visual information processing, saccadic target selection, visual selective attention, and decision making. In particular, the SC has a key role in oculomotor coordination, following a rostro-caudal organization. The rostral SC, which corresponds to foveal representation, is linked to fixation, microsaccades, smooth pursuit, and vergence adjustments. In contrast, the caudal SC, representing more peripheral visual field, is associated with the large gaze shifts (saccades). However, evidence regarding whether this functional gradient is preserved in the human SC remains limited. In this study, we employed a sequence-following visual-motor task to specifically …

Polyfluoroalkyl Substances And Altered Glucose Homeostasis In Adolescents Following Bariatric Surgery, Elizabeth Costello, Brittney O Baumert, Zhenjiang Li, Vishal Midya, Shudi Pan, Justin R Ryder, Thomas H Inge, Todd M Jenkins, Stephanie Sisley, Stavra A Xanthakos, Anita Courcoulas, Douglas I Walker, Nikos Stratakis, Damaskini Valvi, Scott M Bartell, Angela L Slitt, Rohit Kohli, Sarah Rock, Michele A La Merrill, Sandrah P Eckel, Max T Aung, Rob Mcconnell, David V Conti, Lida Chatzi

Children’s Nutrition Research Center Staff Publications

Objectives: Bariatric surgery is an effective treatment for severe obesity and associated metabolic comorbidities. Exposure to polyfluoroalkyl substance (PFAS) before bariatric surgery may attenuate improvements in glucose metabolism and explain some of the heterogeneity in post-surgery outcomes.

Design: This is an observational cohort study.

Methods: Adolescents (n = 186) enrolled in the Teen-Longitudinal Assessment of Bariatric Surgery study were included. Eight-PFAS congeners were measured in plasma before surgery. Linear and logistic regressions were used to examine cross-sectional associations between log2-transformed PFAS (ng/mL) and fasting glucose, insulin, hemoglobin A1c (HbA1c), and homeostatic model assessment for insulin resistance (HOMA-IR). Linear mixed …

Limosilactobacillus Reuteri Alleviates Proinflammatory T-Cell-Mediated Liver Injury And Transcriptomic Changes In Immunocompromised Mice, Ana Fadhel Alvarez, Zheng Yin, Beanna Okeugo, Alexander Banerjee, Meng Luo, Christopher M Taylor, Salomea Giorgberidze, Vaishali Harne, Rambabu Majji, Melissa N Munroe, Ji Ho Suh, Stephen T C Wong, Kang Ho Kim, Hari Krishna Yalamanchili, Suhair Al Salihi, Jon Marc Rhoads, Yuying Liu

Children’s Nutrition Research Center Staff Publications

Background: A deficiency of immunosuppressive regulatory T cells, as seen in scurfy (SF) mice or in IPEX syndrome in humans, can lead to multiorgan inflammation. Oral administration of the probiotic Limosilactobacillus reuteri Deutsche Sammlung von Mikroorganismen und Zellkulturen GmbH (DSM) 17938 prolongs survival and reduces Th1- and Th2-associated inflammation in SF mice. It remains unclear how DSM 17938-educated SF-CD4+ T cells modulate T-cell-liver communication.

Methods: To characterize CD4+ T cells from SF mice orally administered DSM 17938 (Prob-SF-CD4+ T cells) and to compare them with CD4+ T cells from SF mice (SF-CD4+ T cells), cells isolated from SF spleens were …

Corticotropin-Releasing Factor Neurons In The Bed Nucleus Of The Stria Terminalis Modulate Avoidance Behaviors And Feeding, Juan Manuel Romero, Shae-Marie Stafford-Trujillo, Mitzy Mendoza, Pey-Shyuan Chin, Snigdha Srivastava, Mikhail Kochukov, Qingchun Tong, Benjamin Russell Arenkiel

The Brown Foundation: Institute of Molecular Medicine

Introduction: Animals rely on defensive avoidance of exposed or potentially threatening environments as a fundamental survival strategy, often expressing this behavior as thigmotaxis, or a preference for the periphery of an open space. However, researchers still do not understand how neural circuits coordinate avoidance behavior with competing physiological drives such as feeding. In this study, we investigate how corticotropin-releasing factor (CRF)-expressing neurons in the bed nucleus of the stria terminalis (BNST) integrate environmental avoidance and feeding behavior.

Methods: We used adult male and female mice and applied fiber photometry to monitor BNST CRF neuronal activity in vivo. We performed both …

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 …

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.