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Limosilactobacillus Reuteri Promotes Melatonin Release From Human Intestinal Organoids Via 5′Ectonucleotidase Activity, Micah D Forshee, Erika J Nachman, Esha R Shenoy, Heather A Danhof, Ludwig Ermann Lundberg, Stefan Roos, Robert A Britton Dec 2026

Limosilactobacillus Reuteri Promotes Melatonin Release From Human Intestinal Organoids Via 5′Ectonucleotidase Activity, Micah D Forshee, Erika J Nachman, Esha R Shenoy, Heather A Danhof, Ludwig Ermann Lundberg, Stefan Roos, Robert A Britton

Faculty, Staff and Students Publications

Strains of Limosilactobacillus reuteri have been used to prevent or treat various conditions; however, the mechanisms by which they exert beneficial effects are not completely understood. Infant colic is one example in which L. reuteri DSM 17938 reduces clinical symptoms. While the etiology of colic is unknown, abnormal melatonin levels in infants have been suggested as a possible contributor. L. reuteri DSM 17938 has been shown to produce adenosine from AMP via production of the extracellular enzyme 5′ectonucleotidase (5′NT). Adenosine is a potent signaling molecule that impacts several important aspects of host physiology, including the release of melatonin from the …


When Probiotics Guidelines Differ: A Practical Guide For Clinicians And Researchers, Geoffrey A Preidis, Hania Szajewska, Marla Cunningham, Howard Bauchner, Daniel J Merenstein Dec 2026

When Probiotics Guidelines Differ: A Practical Guide For Clinicians And Researchers, Geoffrey A Preidis, Hania Szajewska, Marla Cunningham, Howard Bauchner, Daniel J Merenstein

Faculty, Staff and Students Publications

Many professional organizations publish clinical practice guidelines for the use of probiotics in gastrointestinal disorders. Generally, no two guidelines align perfectly, and some differ markedly. These discrepancies occur because clinical practice guidelines are not purely mechanical outputs of data synthesis. They are shaped by structured interpretation, value judgments, and predefined thresholds for uncertainty. These elements become particularly visible when effect sizes are small, heterogeneity is high, and outcomes vary in clinical relevance-as is the case with probiotic research. This article examines why discordance among probiotic guidelines is predictable and provides practical guidance for clinicians who must decide among conflicting recommendations …


Using Randomization To Compare Ai And Expert-Generated Formative Assessment Questions In Medical Education, Akshat Kumar, Katie Stinson, Litao Wang, Elizabeth Nugent, Yongsu Lee, Mark Hormann, Latanya Jones Love, Toufeeq Ahmed Syed Dec 2026

Using Randomization To Compare Ai And Expert-Generated Formative Assessment Questions In Medical Education, Akshat Kumar, Katie Stinson, Litao Wang, Elizabeth Nugent, Yongsu Lee, Mark Hormann, Latanya Jones Love, Toufeeq Ahmed Syed

Faculty, Staff and Student Publications

Background: AI-generated content is being used across the education spectrum and is beneficial for creating complex multiple-choice questions, such as those used in medical education. However, evaluating AI-generated content is challenging, and existing testing and evaluation methods are falling short. This study uses randomization to compare medical students' performance on and subjective evaluation of AI versus expert-generated questions. We hypothesized that there would be no difference in student performance or subjective evaluation of AI vs expert-generated questions.

Methods: We designed a single-center, randomized study where medical student participants received either one AI- or expert-generated question per day over four weeks. …


In-Hospital Mortality Patterns And Readmissions In Patients With Chronic Obstructive Pulmonary Disease: An Analysis Of The Role Of Pulmonary Hypertension, Saad Afzal Khan, Trishna Parikh, Adishwar Rao, Akriti Agrawal, Aarohi Parikh, Farah Kazzaz, Sarah Shin, Harry Karmouty-Quintana, Maulin Patel, Kha Dinh, Bela Patel, Bindu Akkanti Dec 2026

In-Hospital Mortality Patterns And Readmissions In Patients With Chronic Obstructive Pulmonary Disease: An Analysis Of The Role Of Pulmonary Hypertension, Saad Afzal Khan, Trishna Parikh, Adishwar Rao, Akriti Agrawal, Aarohi Parikh, Farah Kazzaz, Sarah Shin, Harry Karmouty-Quintana, Maulin Patel, Kha Dinh, Bela Patel, Bindu Akkanti

Faculty, Staff and Student Publications

Chronic obstructive pulmonary disease (COPD) may be complicated by pulmonary hypertension (PH). We aimed to understand the impact of PH on in-hospital mortality and quantify the 30-day readmission rate among patients with COPD. For this cross-sectional study, we used the Nationwide Readmissions Database from 2017-2020 to identify adults ≥18 years with COPD. Patients were stratified according to PH diagnosis. Baseline characteristics between groups were compared using the Pearson chi-square test and two-sample t-test. Predictors of in-hospital mortality were determined using multivariate logistic regression analysis adjusted for demographics and confounders. The 30-day readmission rate and prevalence of PH subgroups by baseline …


Ambulatory Blood Pressure Variability In Prediction Of Target Organ Injury: The Ship Ahoy Study, Coral D Hanevold, Jang Dong Seo, Stephen R Daniels, Bonita E Falkner, Michael A Ferguson, Joseph T Flynn, Julie R Ingelfinger, Philip R Khoury, Marc B Lande, Kevin E Meyers, Mark Mitsnefes, Joshua Samuels, Elaine M Urbina Dec 2026

Ambulatory Blood Pressure Variability In Prediction Of Target Organ Injury: The Ship Ahoy Study, Coral D Hanevold, Jang Dong Seo, Stephen R Daniels, Bonita E Falkner, Michael A Ferguson, Joseph T Flynn, Julie R Ingelfinger, Philip R Khoury, Marc B Lande, Kevin E Meyers, Mark Mitsnefes, Joshua Samuels, Elaine M Urbina

Faculty, Staff and Student Publications

Background: Ambulatory hypertension is associated with elevated left ventricular mass index (LVMI), cardiac dysfunction, and increased arterial stiffness in adolescents. Whether the addition of measures of BP variability improves the prediction of subclinical cardiovascular target organ damage (TOD) over mean BP measures is not known.

Methods: We assessed clinic and ambulatory BP (ABP), anthropometrics, and TOD in 397 adolescents. ABP means standard deviation (SD), BP, and heart rate (HR) dipping were calculated; coefficients of variability (CV) were calculated (SD/mean) to assess ABP variabilities. Measures of TOD included LVMI, left ventricular hypertrophy (LVH), LV systolic shortening, LV diastolic function (e'/a'), and …


Tmc Library Newsletter: From Its Past To Present, Alice Sherwood Nov 2026

Tmc Library Newsletter: From Its Past To Present, Alice Sherwood

Library Staff Publications

This presentation describes the early beginnings of our library newsletter, and the progress of its technology changes over time. "The TMC Library Newsletter" started out in 1998 as a quarterly print newsletter, "Library Lines", and evolved into a web-based one, "The Insider," published 6 and then 12 times a year through 2013. Since 2015, its name changed to what it is today and is also available on Digital Commons, an open journal available for the community and beyond. As an open journal using Digital Commons as its platform since April 2025, the items in this journal has grown to more …


Virtual Lunch And Learn: Journal Publishing On Digital Commons, Stefanie Lapka Oct 2026

Virtual Lunch And Learn: Journal Publishing On Digital Commons, Stefanie Lapka

TMC Library Newsletter (2015-)

No abstract provided.


Physician-Assisted Suicide And Euthanasia: A Discussion, Adam Omelianchuk Phd, Ma, Clinical Ethicist, Oct 2026

Physician-Assisted Suicide And Euthanasia: A Discussion, Adam Omelianchuk Phd, Ma, Clinical Ethicist,

History of Medicine Seminar

No abstract provided.


Interdisciplinary, Delphi-Driven Consensus Guidelines On The Use Of Intravenous Ketamine Infusions For Depressive Disorders From The American Society Of Ketamine Physicians, Psychotherapists, And Practitioners (Askp3), David S Mathai, Madeleine Cluck, Amna M Aslam, Erin Amato, Arsalan Azam, Michael Banov, Kathleen A Barrett, Carl J Bonnett, David Feifel, Nicolas Grundmann, H Samuel Ko, Rupert Mcshane, Sandhya Prashad, Tatiana Santini, Lowan H Stewart, Patrick Sullivan, Stefany D Wolfsohn, Jill O Robinson, Amy L Mcguire, L Alison Mcinnes Oct 2026

Interdisciplinary, Delphi-Driven Consensus Guidelines On The Use Of Intravenous Ketamine Infusions For Depressive Disorders From The American Society Of Ketamine Physicians, Psychotherapists, And Practitioners (Askp3), David S Mathai, Madeleine Cluck, Amna M Aslam, Erin Amato, Arsalan Azam, Michael Banov, Kathleen A Barrett, Carl J Bonnett, David Feifel, Nicolas Grundmann, H Samuel Ko, Rupert Mcshane, Sandhya Prashad, Tatiana Santini, Lowan H Stewart, Patrick Sullivan, Stefany D Wolfsohn, Jill O Robinson, Amy L Mcguire, L Alison Mcinnes

Center for Medical Ethics and Health Policy Staff Publications

Background: Off-label use of intravenous ketamine (IVK) for depression is a widespread practice with limited regulation in the United States. There is an urgent need for current, evidence-informed treatment guidelines to facilitate patient safety, clinical decision-making, and care quality in real-world contexts.

Methods: The American Society of Ketamine Physicians, Psychotherapists and Practitioners (ASKP3) convened an interdisciplinary working committee tasked with creating guidelines for use of IVK for depression in outpatient settings. Guideline development followed a two-stage process: 1) a hybrid systematic and targeted evidence review and preliminary drafting by the committee, and 2) consensus refinement through a modified Delphi method …


Corrigendum To “Characterizing The Metabolites Of The Tyrosine-Kinase Inhibitor Pexidartinib In Mouse Feces, Urine, Plasma, And Liver” [J. Pharm. Biomed. Anal. 265 (2025) 117034], Xuan Qin, Si Chen, John M Hakenjos, Jian Wang, Lei Guo, Ashish Dogra, Zhaoyong Hu, Kevin R Mackenzie, Feng Li Oct 2026

Corrigendum To “Characterizing The Metabolites Of The Tyrosine-Kinase Inhibitor Pexidartinib In Mouse Feces, Urine, Plasma, And Liver” [J. Pharm. Biomed. Anal. 265 (2025) 117034], Xuan Qin, Si Chen, John M Hakenjos, Jian Wang, Lei Guo, Ashish Dogra, Zhaoyong Hu, Kevin R Mackenzie, Feng Li

Faculty, Staff and Students Publications

No abstract provided.


Antiplatelet Therapy In 2026: P2y12 And Cox Inhibition In Cardiogenic Shock: A Narrative Review, Phillip Weeks Oct 2026

Antiplatelet Therapy In 2026: P2y12 And Cox Inhibition In Cardiogenic Shock: A Narrative Review, Phillip Weeks

Journal of Shock and Hemodynamics

Antiplatelet therapy is critical in patients with acute coronary syndromes experiencing cardiogenic shock (CS) to prevent stent thrombosis and reduce the risk of major adverse cardiac events. Its role is particularly important after percutaneous revascularization; however, the pharmacokinetic and pharmacodynamic effects of antiplatelet therapy may be significantly altered in patients who experience CS. This narrative review discusses the pathophysiologic changes associated with CS that affect antiplatelet agents and provides a concise overview of the related literature on P2Y12 inhibitor selection and the role of aspirin after percutaneous revascularization in this high-risk population.


Transcriptomic Data And Biomedical Literature Synergize In Finding Pharmacologic Gene Regulators, Rebecca Meyer-Schuman, Fisher Cherry, Yang Sui, Athanasios Papastathopoulos-Katsaros, Yi Zhong, Yidan Li, Tianyun Wang, Kelsey Hennick, Druha Karunakaran, Hanna Berk-Rauch, Zhandong Liu, Aravinda Chakravarti, Tomasz Nowakowski, Evan E Eichler, Huda Zoghbi Oct 2026

Transcriptomic Data And Biomedical Literature Synergize In Finding Pharmacologic Gene Regulators, Rebecca Meyer-Schuman, Fisher Cherry, Yang Sui, Athanasios Papastathopoulos-Katsaros, Yi Zhong, Yidan Li, Tianyun Wang, Kelsey Hennick, Druha Karunakaran, Hanna Berk-Rauch, Zhandong Liu, Aravinda Chakravarti, Tomasz Nowakowski, Evan E Eichler, Huda Zoghbi

Faculty, Staff and Students Publications

Autism affects male individuals four times more often than female individuals, yet the basis of this sex bias remains unclear. One hypothesis is that this sex bias is due to genetic variants in X chromosome genes where haploinsufficiency causes neurodevelopmental disorders (NDDs). In heterozygous XX female probands, a complete loss-of-function variant in one of these genes often causes syndromic NDD, but the same variant is too deleterious for survival in hemizygous XY males. A mild hypomorphic variant, however, may be tolerated in a female carrier but may produce milder neurological phenotypes in a male proband. We tested this by investigating …


Diopt: The Drsc Integrative Ortholog Prediction Tool, 2026 Update, Yanhui Hu, Aram Comjean, Chenxi Gao, Austin Veal, Shinya Yamamoto, Stephanie E Mohr, Norbert Perrimon Oct 2026

Diopt: The Drsc Integrative Ortholog Prediction Tool, 2026 Update, Yanhui Hu, Aram Comjean, Chenxi Gao, Austin Veal, Shinya Yamamoto, Stephanie E Mohr, Norbert Perrimon

Faculty, Staff and Students Publications

Mapping orthologous proteins is a critical step for cross-species literature mining, data integration, experimental design, and more, making the ability to quickly predict orthologs across species a key tool for functional genomic studies. The DRSC Integrative Ortholog Prediction Tool (DIOPT) was initially developed in 2011 to provide a centralized portal for identifying inferred orthologs among major model organisms. By integrating results from multiple ortholog prediction algorithms, DIOPT allows users to compare predictions across methods and prioritize high-confidence ortholog relationships. Over the years, we regularly updated the underlying genome annotations and refreshed predictions from each integrated algorithm. In addition, both the …


A Rare Recurring Gain-Of-Function Variant In Bmpr2 Causes Neurodevelopmental Phenotypes In Humans And Flies, Jung-Wan Mok, Carrie L Welch, Haley A Dostalik, Zhi Tan, Ariel Brautbar, Maria Descartes, Erica T Gray, Alejandro Iglesias, Scott D Mclean, Morgan Nutter, Olivia Daugherty, Amber Begtrup, Ingrid M Wentzensen, Yufeng Shen, Damian W Young, Martin M Matzuk, Oguz Kanca, Michael F Wangler, Hugo J Bellen, Wendy K Chung, Shinya Yamamoto Oct 2026

A Rare Recurring Gain-Of-Function Variant In Bmpr2 Causes Neurodevelopmental Phenotypes In Humans And Flies, Jung-Wan Mok, Carrie L Welch, Haley A Dostalik, Zhi Tan, Ariel Brautbar, Maria Descartes, Erica T Gray, Alejandro Iglesias, Scott D Mclean, Morgan Nutter, Olivia Daugherty, Amber Begtrup, Ingrid M Wentzensen, Yufeng Shen, Damian W Young, Martin M Matzuk, Oguz Kanca, Michael F Wangler, Hugo J Bellen, Wendy K Chung, Shinya Yamamoto

Faculty, Staff and Students Publications

Bone morphogenetic protein receptor type 2 (BMPR2) encodes an evolutionarily conserved serine/threonine kinase that phosphorylates type-1 BMP receptors to mediate intercellular communication upon ligand binding. Loss-of-function variants in BMPR2 are known to cause pulmonary arterial hypertension and other cardiovascular disorders. Here, we report a rare recurrent missense variant in BMPR2 (c.1126G>A [GenBank: NM_001204] [p.Glu376Lys]) identified in six individuals, who all present with neurodevelopmental phenotypes including autism spectrum disorder and global developmental delay. Trio analysis demonstrates de novo occurrence of this variant in at least five of the individuals. Using the fruit fly Drosophila melanogaster, we show that this variant …


A Genetic Risk Variant Associated With The Risk Of Primary Biliary Cholangitis Is Inherited From Neanderthals, Alessio Gerussi, Chiara Caime, Harold Wang, Heather J Cordell, George F Mells, Richard N Sandford, David E Jones, Gideon Hirschfield, Katherine A Siminovitch, M Eric Gershwin, Brian D Juran, Elizabeth J Atkinson, Angela Cheung, Mariza De Andrade, Aris Baras, Konstantinos N Lazaridis, Rosanna Asselta, Pietro Invernizzi, Manuela Sironi, Sriram Sankararaman, Canadian‐Us Pbc Consortium, Uk‐Pbc Consortium, Italian Pbc Genetics Study Group Oct 2026

A Genetic Risk Variant Associated With The Risk Of Primary Biliary Cholangitis Is Inherited From Neanderthals, Alessio Gerussi, Chiara Caime, Harold Wang, Heather J Cordell, George F Mells, Richard N Sandford, David E Jones, Gideon Hirschfield, Katherine A Siminovitch, M Eric Gershwin, Brian D Juran, Elizabeth J Atkinson, Angela Cheung, Mariza De Andrade, Aris Baras, Konstantinos N Lazaridis, Rosanna Asselta, Pietro Invernizzi, Manuela Sironi, Sriram Sankararaman, Canadian‐Us Pbc Consortium, Uk‐Pbc Consortium, Italian Pbc Genetics Study Group

Faculty, Staff and Students Publications

Background: Primary Biliary Cholangitis (PBC) is an autoimmune cholangiopathy with polygenic architecture and unknown aetiology. Evidence links Neanderthal-derived genetic variants to autoimmune conditions; however, their contribution to PBC susceptibility remains unexplored.

Objective: We investigate whether archaic alleles influence PBC risk.

Design: Genotype data from four PBC cohorts were analysed: CANUK (4615 cases, 9233 controls), OLD IT (444 cases, 901 controls), NEW IT (255 cases, 579 controls) and MAYO (891 cases, 621 controls). Association testing with 235 592 Neanderthal Informative Markers (NIMs) was performed, adjusting for population stratification. Heritability was estimated using RHE-mc and temporal haplotype dynamics were assessed using ancient …


Considering Access And Methodological Rigor In Framing Results Of The Bergen 4 Day Treatment Program For Obsessive-Compulsive Disorder, Eric A Storch, Benjamin J Chang Oct 2026

Considering Access And Methodological Rigor In Framing Results Of The Bergen 4 Day Treatment Program For Obsessive-Compulsive Disorder, Eric A Storch, Benjamin J Chang

Faculty, Staff and Students Publications

No abstract provided.


Social Responsiveness As A Mediator In Adapted Cognitive Behavioral Therapy For Autistic Youth With Maladaptive And Interfering Anxiety, Jeffrey J Wood, Eric A Storch, Katherine Sung, Karen S Wood, Philip C Kendall Oct 2026

Social Responsiveness As A Mediator In Adapted Cognitive Behavioral Therapy For Autistic Youth With Maladaptive And Interfering Anxiety, Jeffrey J Wood, Eric A Storch, Katherine Sung, Karen S Wood, Philip C Kendall

Faculty, Staff and Students Publications

Numerous adaptations to interventions have been included in cognitive behavioral therapy (CBT) for autistic youth. This study examines the degree to which CBT adapted to the social needs of autistic youth confers significant benefit by promoting social responsiveness. A secondary analysis was conducted on a multisite randomized clinical trial (Wood et al. in JAMA Psychiatry 77:474-483, 2020) comparing adapted CBT with standard-of-practice CBT and treatment-as-usual (TA). Autistic youth (N = 167; aged 7-13) with maladaptive and interfering anxiety participated. The adapted CBT (BIACA) uses a modular format, with an emphasis on supplementing common CBT practice elements (reframing and graded exposure) …


Spell: A Scalable Nlp Method Using Regular Expressions And Large Language Models For Clinical Information Extraction, Ricardo Kleinlein, David W Bates, Carolyn Guan, Kathryn J Gray, Vesela P Kovacheva Oct 2026

Spell: A Scalable Nlp Method Using Regular Expressions And Large Language Models For Clinical Information Extraction, Ricardo Kleinlein, David W Bates, Carolyn Guan, Kathryn J Gray, Vesela P Kovacheva

Faculty, Staff and Students Publications

Background and objectives: Electronic health records (EHRs) contain valuable information for research and decision-making, but much resides in unstructured notes that are challenging to analyze at scale. We developed SPELL (Snippet-Primed rEgex LLM Pipeline), a scalable natural language processing workflow that combines regular-expression-based snippet retrieval with locally hosted large language model (LLM) inference to extract structured variables from large collections of clinical narratives.

Methods: SPELL uses task-specific regular expressions to retrieve short context windows ("snippets") from unstructured texts and applies task-prompted LLM inference on snippets rather than full documents. All processing occurs within institutional computing environments. Accuracy was evaluated on …


Adjunctive Embolization Of Target Vessel Dissections To Improve Suitability For Fenestrated-Branched Endovascular Aortic Repair, Zemia C Ferreira, Hannah V Oden-Brunson, Ying Huang, Steven Maximus, Naveed Saqib, Erin Greenleaf, Thanila A Macedo, Gustavo S Oderich Oct 2026

Adjunctive Embolization Of Target Vessel Dissections To Improve Suitability For Fenestrated-Branched Endovascular Aortic Repair, Zemia C Ferreira, Hannah V Oden-Brunson, Ying Huang, Steven Maximus, Naveed Saqib, Erin Greenleaf, Thanila A Macedo, Gustavo S Oderich

Faculty, Staff and Students Publications

Suitability of renal-mesenteric target arteries is an essential criterion for fenestrated-branched endovascular aortic repair (FB-EVAR). We describe a staged adjunctive technique of target vessel false lumen (FL) embolization to improve suitability for FB-EVAR in patients with chronic postdissection thoracoabdominal aortic aneurysms (PD-TAAA) and dissection extension into the superior mesenteric artery (SMA). Three patients with SMA dissection and ectasia (diameter > 12-14 mm) underwent staged FL embolization with pre-emptive stent placement to optimize SMA incorporation. Using bilateral transfemoral access with intravascular ultrasound guidance, the proximal SMA true lumen was stented with an 8 L × 39 mm VBX balloon-expandable stent graft (W. …


Engagement And Weight Change In An Online Weight Management Program In Clinical Settings: An Implementation Project, Heather J Baer, Joann Cho, Richard Fay, Caroline M Apovian, Ashley C Mccarthy, Alexander J Blood, Lipika Samal, Naomi D L Fisher, E John Orav, Matthew Wien, Jorge Plutzky, Jason P Block, David W Bates, Ronen Rozenblum, Michela Tucci, Marian Mcpartlin, Michael Oates, Katherine D Mcmanus, Benjamin M Scirica Oct 2026

Engagement And Weight Change In An Online Weight Management Program In Clinical Settings: An Implementation Project, Heather J Baer, Joann Cho, Richard Fay, Caroline M Apovian, Ashley C Mccarthy, Alexander J Blood, Lipika Samal, Naomi D L Fisher, E John Orav, Matthew Wien, Jorge Plutzky, Jason P Block, David W Bates, Ronen Rozenblum, Michela Tucci, Marian Mcpartlin, Michael Oates, Katherine D Mcmanus, Benjamin M Scirica

Faculty, Staff and Students Publications

Background: There is an urgent need for scalable strategies for treatment of overweight and obesity that can be implemented in clinical settings.

Objective: To implement and evaluate an online weight management program in a large, diverse population of patients.

Design: Clinical implementation project in primary care and specialty clinics.

Participants: Eligible patients were ≥ 20 years old, spoke English or Spanish, and had a body mass index (BMI) of ≥ 30 kg/m2 or a BMI of 25-29.9 kg/m2 plus ≥ 1 cardiovascular risk factor or obesity-related condition.

Intervention: Enrolled patients were encouraged to register for a 12-month digital health program …


A Prospective Natural History Study Protocol For Clinical Trial Readiness In Synaptic Disorders, Jillian L Mckee, Sarah M Ruggiero, Kristin Cunningham, Joeylynn Coyne, Ian Mcsalley, Michael C Kaufman, Bintou Bane, Torrey Chisari, Jonathan Toib, Carlyn Glatts, Sarah Tefft, Julie M Orlando, Viveknarayanan Padmanabhan, Alexander K Gonzalez, Alicia Harrison, Charlene Woo, Stephanie A Zbikowski, Rency Dhaduk, Johanna Mercurio, Macie Mccarthy, Jan H Magielski, Zachary Grinspan, Megan Abbott, Juliet Knowles, Hsiao-Tuan Chao, Katherine Xiong, Elizabeth Berry-Kravis, Sepideh Tabarestani, J Michael Graglia, Kathryn Helde, Virginie Mcnamar, Charlene Son Rigby, James Goss, Scott Demarest, Andrea Miele, Benjamin Prosser, Michael J Boland, Samuel R Pierce, Ingo Helbig Oct 2026

A Prospective Natural History Study Protocol For Clinical Trial Readiness In Synaptic Disorders, Jillian L Mckee, Sarah M Ruggiero, Kristin Cunningham, Joeylynn Coyne, Ian Mcsalley, Michael C Kaufman, Bintou Bane, Torrey Chisari, Jonathan Toib, Carlyn Glatts, Sarah Tefft, Julie M Orlando, Viveknarayanan Padmanabhan, Alexander K Gonzalez, Alicia Harrison, Charlene Woo, Stephanie A Zbikowski, Rency Dhaduk, Johanna Mercurio, Macie Mccarthy, Jan H Magielski, Zachary Grinspan, Megan Abbott, Juliet Knowles, Hsiao-Tuan Chao, Katherine Xiong, Elizabeth Berry-Kravis, Sepideh Tabarestani, J Michael Graglia, Kathryn Helde, Virginie Mcnamar, Charlene Son Rigby, James Goss, Scott Demarest, Andrea Miele, Benjamin Prosser, Michael J Boland, Samuel R Pierce, Ingo Helbig

Faculty, Staff and Students Publications

Objective: STXBP1-related disorder (STXBP1-RD) and SYNGAP1-related disorder (SYNGAP1-RD) are two common genetic synaptopathies that are associated with epilepsy, developmental delay, intellectual developmental disorder, and behavioral problems. Both STXBP1-RD and SYNGAP1-RD are potential targets for disease-modifying therapies, but there is limited information in the literature describing the natural history of either disorder, which impedes outcome selection for future clinical trials. The objective of this study is to develop a framework to better define and outline the clinical spectrum and longitudinal trajectories of STXBP1-RD and SYNGAP1-RD natural history, including development, behavior, seizure histories, and electrophysiology.

Methods: Here, we describe a protocol, regulatory …


Reversible Microvascular Ischemia With St-Segment Elevation: An Underrecognized Manifestation Of Antibody-Mediated Rejection In Cardiac Allograft Recipients, Jonathan Ahn, Justin Daneshrad, Liset Stoletniy, Dmitry Abramov Sep 2026

Reversible Microvascular Ischemia With St-Segment Elevation: An Underrecognized Manifestation Of Antibody-Mediated Rejection In Cardiac Allograft Recipients, Jonathan Ahn, Justin Daneshrad, Liset Stoletniy, Dmitry Abramov

The VAD Journal

Electrocardiographic manifestations of cardiac allograft rejection are often subtle, and stress-induced ST-segment elevation associated with antibody-mediated rejection (AMR) is rarely reported. We describe a 34-year-old heart transplant recipient with progressive exertional angina, nonobstructive coronary disease on angiography, and exercise-induced ST-segment elevation in lead augmented vector right, high-lateral leads I, and augmented voltage left, along with diffuse ST-segment depressions, hypotension, and transient ventricular tachycardia. Concurrent emergence of complement-binding donor-specific antibodies with high mean fluorescence intensity raised concern for AMR, prompting treatment with corticosteroids, plasma exchange, and intravenous immunoglobulin despite the absence of biopsy confirmation. After therapy, symptoms, exercise-induced ischemic electrocardiographic abnormalities, …


A Hypothalamic Neuronal Population Coordinates Metabolic Adaptations To Cold, Hailan Liu, Qingzhuo Liu, Jonathan C Bean, Fuhui Wang, Jinjing Jian, Yongxiang Li, Kristine M Conde, Mengjie Wang, Yue Deng, Yuxue Yang, Tong Zhou, Jingjing Cheng, Yutian Liu, Meixin Sun, Xinming Liu, Jiamin Qiu, Xi Wu, Lamei Xue, Qingchun Tong, Benjamin R Arenkiel, Mingshan Xue, Huxing Cui, Tzu-Chiao Lu, Yanyan Qi, Hongjie Li, Chunmei Wang, Yang He, Yongjie Yang, Longlong Tu, Yong Xu Sep 2026

A Hypothalamic Neuronal Population Coordinates Metabolic Adaptations To Cold, Hailan Liu, Qingzhuo Liu, Jonathan C Bean, Fuhui Wang, Jinjing Jian, Yongxiang Li, Kristine M Conde, Mengjie Wang, Yue Deng, Yuxue Yang, Tong Zhou, Jingjing Cheng, Yutian Liu, Meixin Sun, Xinming Liu, Jiamin Qiu, Xi Wu, Lamei Xue, Qingchun Tong, Benjamin R Arenkiel, Mingshan Xue, Huxing Cui, Tzu-Chiao Lu, Yanyan Qi, Hongjie Li, Chunmei Wang, Yang He, Yongjie Yang, Longlong Tu, Yong Xu

Faculty, Staff and Students Publications

Cold exposure increases feeding, thermogenesis, and energy expenditure to maintain body temperature and energy balance, but the underlying neural mechanisms remain unclear. Here, we identify cold-responsive neurons in the dorsal posterior periventricular hypothalamus that coordinate these adaptations. Activation of GABAergic or cold-activated neurons increased food intake, body temperature, and brown adipose tissue thermogenesis, whereas their inhibition attenuated cold-induced hyperphagia and thermogenesis. Single-nucleus RNA sequencing identified Lef1 as a marker of cold-activated neurons in this region. Activation of Lef1+ neurons recapitulated key cold responses, whereas silencing attenuated them. Lef1 positively regulated Kcnk2, which encodes the cold-sensitive potassium channel TREK-1. Cold …


Randomized Phase Ii Trial Of Liposomal Cytarabine And Daunorubicin With Or Without Pomalidomide In Newly Diagnosed Acute Myeloid Leukemia Myelodysplasia-Related, Daniel T Peters, Kristin Koenig, Anastasia Ivanova, Jiajun He, Gail J Roboz, Uma Borate, Jesus Gonzalez-Lugo, Tara Lin, Bayard Powell, Emily Curran, Michael Hochman, Daniel Reed, Angela Nichols, Lauren Higgins, Allison Mckinney, Alice Mims, William Carson, E Claire Dees, Richard F Little, Howard Streicher, Christopher Hourigan, Leo Luznik, Ivana Gojo, Joshua F Zeidner Sep 2026

Randomized Phase Ii Trial Of Liposomal Cytarabine And Daunorubicin With Or Without Pomalidomide In Newly Diagnosed Acute Myeloid Leukemia Myelodysplasia-Related, Daniel T Peters, Kristin Koenig, Anastasia Ivanova, Jiajun He, Gail J Roboz, Uma Borate, Jesus Gonzalez-Lugo, Tara Lin, Bayard Powell, Emily Curran, Michael Hochman, Daniel Reed, Angela Nichols, Lauren Higgins, Allison Mckinney, Alice Mims, William Carson, E Claire Dees, Richard F Little, Howard Streicher, Christopher Hourigan, Leo Luznik, Ivana Gojo, Joshua F Zeidner

Faculty, Staff and Students Publications

Not available.


The Role Of Family Problem-Solving And Neighborhood Social Cohesion On Child Socioemotional Learning Among Families With Low-Income, Nazaret C. Suazo, Alanah C. Claybaugh, Deborah J. Jones Sep 2026

The Role Of Family Problem-Solving And Neighborhood Social Cohesion On Child Socioemotional Learning Among Families With Low-Income, Nazaret C. Suazo, Alanah C. Claybaugh, Deborah J. Jones

Journal of Applied Research on Children: Informing Policy for Children at Risk

Socioemotional learning (SEL) is linked to a broad range of child outcomes, with income playing an important role in child SEL, yet most work has compared high- and low-income children yielding less understanding of variability in risk and protective factors within low-income families and communities. Building upon theories in the positive youth development literature and public health frameworks exploring social determinants of health, this study explored the role of family problem-solving, neighborhood social cohesion, and neighborhood resources in understanding child SEL within 1097 low-income families of 3- to 5-year-old children who participated in the National Survey of Children’s Health. Using …


Follistatin Regulates Tooth Root Furcation Morphogenesis, Liu Yang, Ju-Kyung Jeong, Hwajung Choi, Tak-Heun Kim, Hyuk-Jae Edward Kwon, Sung-Won Cho, Martin Matthew Matzuk, Eui-Sic Cho Sep 2026

Follistatin Regulates Tooth Root Furcation Morphogenesis, Liu Yang, Ju-Kyung Jeong, Hwajung Choi, Tak-Heun Kim, Hyuk-Jae Edward Kwon, Sung-Won Cho, Martin Matthew Matzuk, Eui-Sic Cho

Faculty, Staff and Students Publications

Follistatin (Fst), an extracellular inhibitor of the TGF-β signaling pathway, plays a critical role in tooth development, particularly in crown morphogenesis and enamel patterning. While molar root number is conserved within species and between upper and lower jaws, the molecular mechanisms governing root patterning remain largely unknown. To investigate the role of Fst in root formation, we analyzed K14-Cre-mediated Fst knockout mice. During embryonic and early postnatal stages, Fst was dynamically expressed in the dental epithelium including the lingual epithelium, and primary and secondary enamel knots, as well as in the dental mesenchyme at the base of the dental papilla. …


Association Between Nonsyndromic Congenital Heart Disease And Childhood Cancer In A Population-Based, Retrospective Cohort Of 11 Million Children, Jeremy M Schraw, Karin C Mims, Sara B Stephens, Sonja A Rasmussen, Emily J Mason, Tania A Desrosiers, Charles J Shumate, Wendy N Nembhard, Mahsa M Yazdy, Eirini Nestoridi, Amanda E Janitz, Jean Paul Tanner, Russell S Kirby, Jason L Salemi, Chad D Huff, Sharon E Plon, Shaine A Morris, Philip J Lupo Sep 2026

Association Between Nonsyndromic Congenital Heart Disease And Childhood Cancer In A Population-Based, Retrospective Cohort Of 11 Million Children, Jeremy M Schraw, Karin C Mims, Sara B Stephens, Sonja A Rasmussen, Emily J Mason, Tania A Desrosiers, Charles J Shumate, Wendy N Nembhard, Mahsa M Yazdy, Eirini Nestoridi, Amanda E Janitz, Jean Paul Tanner, Russell S Kirby, Jason L Salemi, Chad D Huff, Sharon E Plon, Shaine A Morris, Philip J Lupo

Faculty, Staff and Students Publications

Background: Epidemiologic studies have demonstrated associations between congenital heart disease (CHD) and childhood cancer. However, these assessments have not fully accounted for the pathogenetic and clinical heterogeneity of CHD, limiting their capacity to inform pathogenetic studies and the clinical management of children with CHD.

Methods: To achieve a more detailed understanding of cancer risk in children with nonsyndromic CHD, we evaluated 60 cardiac lesions in 7 categories in a cohort of 11 million children from Massachusetts, North Carolina, Oklahoma, and Texas. We used Cox proportional hazards regression to estimate the hazard ratios (HRs) and 95% CIs of cancer in children …


An Introduction To The History Of Medicine In Medical Education, Mary E. Horton Mph, Ma, Phd Sep 2026

An Introduction To The History Of Medicine In Medical Education, Mary E. Horton Mph, Ma, Phd

History of Medicine Seminar

No abstract provided.


Racial Health Disparities And The Role Of Education, Johnny Huynh, Adriana Lleras-Muney Sep 2026

Racial Health Disparities And The Role Of Education, Johnny Huynh, Adriana Lleras-Muney

Journal of Applied Research on Children: Informing Policy for Children at Risk

This paper explores whether — and the degree to which — Black-White health disparities can be accounted for by educational attainment gaps. Part I reviews evidence on the causal effects of educational policies on health behaviors and outcomes. Many of these policies have demonstrated significant long-term health benefits, particularly for disadvantaged populations, though the effects are heterogeneous. Part II discusses whether the health benefits of education vary by race, reviewing theories of structural inequalities that posit that minorities benefit less from education. Part III analyzes data from the National Health Interview Survey to quantify the educational gradient in health across …


Skin Carotenoid Scores Reflect Immune Status Among Children Living With Hiv In Tanzania, Wilbert Mbuya, Thobias Boniphace, Michael Mwagala, Peter Agrea, Nazareth M Mbilinyi, Nancy E Moran, Andrew R Dinardo, Mkunde Chachage Sep 2026

Skin Carotenoid Scores Reflect Immune Status Among Children Living With Hiv In Tanzania, Wilbert Mbuya, Thobias Boniphace, Michael Mwagala, Peter Agrea, Nazareth M Mbilinyi, Nancy E Moran, Andrew R Dinardo, Mkunde Chachage

Children’s Nutrition Research Center Staff Publications

Many individuals living with HIV experience persistent inflammation despite antiretroviral treatment, increasing their risk for cardiovascular diseases, cognitive decline, and other noncommunicable diseases. Carotenoids can inhibit this inflammation by reducing lipid peroxidation. Carotenoid intake and plasma concentrations can be approximated using a noninvasive cutaneous spectrophotometer. This study quantified skin carotenoid levels in Tanzanian children ages 5 to 15 years old (N = 185) both with and without HIV. Over 95% had low to moderate skin carotenoid scores (< 400 units). In children living with HIV, higher viral loads were linked to lower skin carotenoid scores (rho = -0.57, P < 0.001), whereas higher CD4 counts correlated with increased skin carotenoid scores (rho = 0.52, P < 0.001). Overall, carotenoid levels were low and associated with immune status, suggesting that elevated carotenoid scores correlate with lower inflammation in children living with HIV. Future studies investigating dietary carotenoid interventions to support immune function are warranted.