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The Association Of Apolipoprotein E Ε4 With Symptomatic Intracerebral Hemorrhage, Mri Markers And Cognition In Dutch-Type Hereditary Cerebral Amyloid Angiopathy, Maaike C. Van Der Plas, Rosemarie Van Dort, Ingeborg Rasing, Yongxi Long, Erik W. Van Zwet, Matthias J.P. Van Osch, Hamid R. Sohrabi, Kevin Taddei, Samantha L. Gardener, Ralph N. Martins, Steven M. Greenberg, Gisela M. Terwindt, Marianne A.A. Van Walderveen, Marieke J.H. Wermer Apr 2026

The Association Of Apolipoprotein E Ε4 With Symptomatic Intracerebral Hemorrhage, Mri Markers And Cognition In Dutch-Type Hereditary Cerebral Amyloid Angiopathy, Maaike C. Van Der Plas, Rosemarie Van Dort, Ingeborg Rasing, Yongxi Long, Erik W. Van Zwet, Matthias J.P. Van Osch, Hamid R. Sohrabi, Kevin Taddei, Samantha L. Gardener, Ralph N. Martins, Steven M. Greenberg, Gisela M. Terwindt, Marianne A.A. Van Walderveen, Marieke J.H. Wermer

Research outputs 2022 to 2026

Background: Apolipoprotein E (APOE) genotype influences the presence, course and severity of sporadic cerebral amyloid angiopathy (sCAA). We investigated the effect of the APOE ε4-allele on clinical and neuroradiological outcomes in mutation-carriers with Dutch-type hereditary (D-)CAA. Methods: Participants with D-CAA from a prospective cohort study, with data collected on history of symptomatic intracerebral hemorrhages (sICH) and vascular risk factors, underwent 3 Tesla magnetic resonance imaging (MRI) scans to assess macrobleeds, cerebral microbleeds (CMBs), cortical superficial siderosis (cSS), enlarged perivascular spaces (EPVS), white matter hyperintensity (WMH) volume and WMH multispot lesions. Global cognition was measured using Montreal Cognitive Assessment (MoCA) and …


Development Of A Dendritic Cell Model To Unravel The Secrets Of Cards Toxin, Lizbeth Gomez Apr 2026

Development Of A Dendritic Cell Model To Unravel The Secrets Of Cards Toxin, Lizbeth Gomez

Posters - 2026

Dendritic cells (DCs) are derived from hematopoietic stem cells of the bone marrow. They are the most efficient antigen presenting cell, presenting antigens to T cells to initiate clonal expansion and differentiation of the T cells into memory and effector cells. Thus, activating the effector functions of T cells in cell-mediated and humoral immune responses (2). Community-acquired respiratory distress syndrome (CARDS) toxin is produced by Mycoplasma pneumoniae that causes acute and chronic lung infections (4). Dendritic cells play a key role in the immune response to respiratory mycoplasmas (3). However, the mechanism underlying in DC and CARDS toxin interactions are …


3-Deoxyanthocyanidins Inhibit Β-Amyloid Aggregation, Toxicity, And Mitochondrial Dysfunction: Evidence From Mc-65 Cells And Molecular Dynamics Simulations, Rasheed A. Abdulraheem, Ammar U. Danazumi, Philipp Nitschke, Luke Gray Whiley, Abdulrahman Ibrahim Tudu, Ranil Coorey, Zhoyu Li, Prashant Bharadwaj, Vijay Jayasena, Stuart K. Johnson, Ralph N. Martins, W. M.A.D.Binosha Fernando Apr 2026

3-Deoxyanthocyanidins Inhibit Β-Amyloid Aggregation, Toxicity, And Mitochondrial Dysfunction: Evidence From Mc-65 Cells And Molecular Dynamics Simulations, Rasheed A. Abdulraheem, Ammar U. Danazumi, Philipp Nitschke, Luke Gray Whiley, Abdulrahman Ibrahim Tudu, Ranil Coorey, Zhoyu Li, Prashant Bharadwaj, Vijay Jayasena, Stuart K. Johnson, Ralph N. Martins, W. M.A.D.Binosha Fernando

Research outputs 2022 to 2026

Accumulation of amyloid-beta (Aβ42) senile plaques in the brain is a hallmark of Alzheimer's disease (AD). Although some drug have been approvaled recently, none has demonstrated robust disease-modifying outcome. The 3-deoxyanthocyanidins (3-DXA) and their derivatives represent a more stable class of polyphenols, present at uniquely high concentrations in sorghum grains. Although 3-DXA exhibit strong potential to modulate protein aggregation processes, their effects on AD pathology remain unexplored. In this study, we investigated the inhibitory effects of three 3-DXA derivatives, apigeninidin chloride (AC), luteolinidin chloride (LC), and 7-methoxy apigeninidin (7-MAC), on Aβ42 aggregation and associated neurotoxicity. Thioflavin T fluorescence assay was …


Effects Of “Zero Sugar” Energy Drinks On Microbial Proliferation In Relation To The Gastrointestinal Microbiome, Madison Hines Apr 2026

Effects Of “Zero Sugar” Energy Drinks On Microbial Proliferation In Relation To The Gastrointestinal Microbiome, Madison Hines

Honors Theses

Energy drinks have rapidly increased in popularity and availability in recent years. With the rise of high-caffeine beverages, complications due to caffeine consumption have become more common in younger populations. The aim of this study was to use controlled laboratory methods to determine the effect of energy drinks on a variety of organisms commonly found in the gastrointestinal (GI) tract. The diverse and dynamic nature of microbes in the gut makes conditions of the GI tract difficult to replicate in a laboratory setting. As an alternative, isolates of bacteria commonly found as normal flora in the GI tract were plated …


Folic Acid–Carbon Dot–Gemcitabine Nanoparticles For Targeted Cancer Drug Delivery, Irfan Huda, Hua Mei Apr 2026

Folic Acid–Carbon Dot–Gemcitabine Nanoparticles For Targeted Cancer Drug Delivery, Irfan Huda, Hua Mei

SPARK Symposium Presentations

This project aims to develop a folic acid-attached carbon dot nanoparticle system (FA-CDs-GEM) for the targeted delivery of gemcitabine to cancer cells. While gemcitabine is widely used, its effectiveness is limited because a short in vivo half life and lack of selectivity, which lead to severe side effects. Carbon dots offer a simple and modifiable platform as the drug delivery and bioimaging agent. Conjugation of folic acid to the carbon dots enables selective targeting of cancer cells that overexpress folate receptors. In this study, we synthesized and characterized FA-CD-GEM nanoparticles and developed an HPLC calibration curve of GEM to accurately …


Dean's Report- Spring 2026, Marina K. Holz Apr 2026

Dean's Report- Spring 2026, Marina K. Holz

GSBMS Dean’s Report

No abstract provided.


The Effects Of Body Mass Index On Fertility And In Vitro Fertilization, Morgan R. Kidd Apr 2026

The Effects Of Body Mass Index On Fertility And In Vitro Fertilization, Morgan R. Kidd

Honors College Theses

In-vitro fertilization (IVF) is the most widely used type of assisted reproductive technology for treating infertility arising from a number of conditions. As obesity rates continue to climb in the United States, infertility has been discovered to have a direct correlation. Individuals that fall below or above the healthy body mass index range are found to have disrupted regulation of the hypothalamic-pituitary-gonadal axis, resulting in diminished reproductive health. Those that are diagnosed as infertile due to conditions caused by the effects of low body mass index or high body mass index may seek assisted reproductive technologies to intervene in achieving …


Ethical Controversies In Organ Procurement: A National Survey On Public Perceptions Of Thoracoabdominal Normothermic Regional Perfusion, Trevor M Bibler, Jill Oliver Robinson, Adam Omelianchuk, Tariq Nisar, Savitri Fedson, Ariel N Levchenko, Amy L Mcguire Apr 2026

Ethical Controversies In Organ Procurement: A National Survey On Public Perceptions Of Thoracoabdominal Normothermic Regional Perfusion, Trevor M Bibler, Jill Oliver Robinson, Adam Omelianchuk, Tariq Nisar, Savitri Fedson, Ariel N Levchenko, Amy L Mcguire

Center for Medical Ethics and Health Policy Staff Publications

Thoracoabdominal normothermic regional perfusion (TA-NRP) would likely expand the quantity and quality of organs procured after controlled circulatory death donation in the United States, yet its ethical permissibility remains contested. We surveyed a representative sample of US adults (n = 975) with the goal of assessing their perspectives on the ethical permissibility of TA-NRP. After reading a neutral description of TA-NRP, participants judged its permissibility, reviewed 5 critic and 5 supporter arguments (in random order), and chose which argument they found most convincing. Multivariable logistic regression examined predictors of agreeing with critics. Before exposure to the arguments, 51.5% stated that …


Diagnostic Criteria And Management Of Melas And Stroke-Like Episodes: Consensus-Based Statements, Michelangelo Mancuso, Marcello Bellusci, Valerio Carelli, Irenaeus De Coo, Daria Diodato, Felix Distelmaier, Omar Hikmat, Michio Hirano, Rita Horvath, Amel Karaa, Thomas Klopstock, Mary Kay Koenig, Cornelia Kornblum, Chiara La Morgia, Piervito Lopriore, Mika Henrik Martikainen, Robert Mcfarland, Olimpia Musumeci, Robert D S Pitceathly, Guido Primiano, Shamima Rahman, Fernando Scaglia, Andrew Schaefer, Manuel Schiff, Luisa Semmler, Costanza Lamperti, Serenella Servidei Apr 2026

Diagnostic Criteria And Management Of Melas And Stroke-Like Episodes: Consensus-Based Statements, Michelangelo Mancuso, Marcello Bellusci, Valerio Carelli, Irenaeus De Coo, Daria Diodato, Felix Distelmaier, Omar Hikmat, Michio Hirano, Rita Horvath, Amel Karaa, Thomas Klopstock, Mary Kay Koenig, Cornelia Kornblum, Chiara La Morgia, Piervito Lopriore, Mika Henrik Martikainen, Robert Mcfarland, Olimpia Musumeci, Robert D S Pitceathly, Guido Primiano, Shamima Rahman, Fernando Scaglia, Andrew Schaefer, Manuel Schiff, Luisa Semmler, Costanza Lamperti, Serenella Servidei

Faculty, Staff and Student Publications

Background and purpose: Mitochondrial Encephalomyopathy, Lactic acidosis and Stroke-like episodes (MELAS) is a rare multisystem mitochondrial disorder with clinical heterogeneity. Diagnostic criteria and management strategies for MELAS and mitochondrial stroke-like episodes (SLE) remain inconsistent. This work provides international consensus recommendations on the definition, diagnosis, and management of MELAS and SLE in pediatric and adult populations.

Methods: An international Delphi consensus process was conducted within the European Reference Network for Neuromuscular Diseases (ERN EURO-NMD), in collaboration with the US Mitochondrial Medicine Society, the ERN for Hereditary Metabolic Disorders (MetabERN), and patient representatives. Following a systematic literature review, 54 statements addressing diagnostic …


Effects Of Ndbi With Just-In-Time Programming Of Vsds On Communication Of Children With Asd, Jenna M. Rogers Apr 2026

Effects Of Ndbi With Just-In-Time Programming Of Vsds On Communication Of Children With Asd, Jenna M. Rogers

College of Education and Human Sciences: Dissertations, Theses, and Student Research

Autism Spectrum Disorder (ASD) is a prominent neurological and developmental disability that often requires communication support, such as Augmentative and Alternative Communication (AAC). Visual Scene Displays (VSDs) are an AAC support that directly immerses in the user’s life, using images from real environments the user has or may experience. Naturalistic Developmental Behavioral Intervention (NDBI) is an evidence-based approach to early intervention that targets social communication during naturalistic routines, including those who rely on AAC support to communicate. Despite recent research indicating that combining NDBI and AAC is a promising approach (Pope et al., 2024), no studies to date have examined …


Analyzing The Effect Of Melatonin On B Cells' Expression Of Cd36, Caitlyn Pinaga, Gabriella Galdeano, Nayi Gonzalez, Emma Welsch Apr 2026

Analyzing The Effect Of Melatonin On B Cells' Expression Of Cd36, Caitlyn Pinaga, Gabriella Galdeano, Nayi Gonzalez, Emma Welsch

Posters - 2026

• B cells specifically target pathogens and proliferate to make a plasma cell and secrete antibodies when stimulated. They use glucose as a main energy source but can also use fatty acids. • CD36 is a glycoprotein involved in the transportation and metabolism of fatty acids. • B cells express CD36 in unusually high levels in autoimmune patients. It is unknown as to how this occurs. • Melatonin is a hormone produced in the pineal gland, commonly known for its function in regulating the circadian rhythm. • Melatonin is also known as a master cell regulator and is believed to …


Transfusion In Transit: A Decade Of Prehospital Blood Transfusion In Pediatric Trauma, Krysta M Sutyak, Eunise C Chen, Lea Mock, Rudolfo Cabrera, Jeannette M Joly, Kuojen Tsao, Bryan A Cotton, David E Meyer, Charles S Cox, Kevin P Lally, Natalie A Drucker Apr 2026

Transfusion In Transit: A Decade Of Prehospital Blood Transfusion In Pediatric Trauma, Krysta M Sutyak, Eunise C Chen, Lea Mock, Rudolfo Cabrera, Jeannette M Joly, Kuojen Tsao, Bryan A Cotton, David E Meyer, Charles S Cox, Kevin P Lally, Natalie A Drucker

The Brown Foundation: Institute of Molecular Medicine

Background: Prehospital blood transfusion improves mortality in adults, with limited evidence in children. This study describes prehospital blood transfusion in pediatric trauma patients and the impact on shock index, pediatric adjusted (SIPA).

Methods: This study is a retrospective cohort study of trauma patients younger than 18 years who received blood transfusions during helicopter transport to a Level 1 pediatric trauma center from 2011 to 2023. Primary outcome was change in SIPA at time of emergency department (ED) arrival with prehospital transfusion. Secondary subgroup analysis was performed based on transport origin.

Results: Of 137 patients, 58% (80 of 137 patients) were …


Telomerase Knockout In Myeloid Cells Predisposes Mice To Foam Cell Formation, Dyslipidemia, Lung Fibrosis, And Cardiac Dysfunction, Zhanguo Gao, Yongmei Yu, David Wiggins, Eva M Sevick-Muraca, Mikhail G Kolonin Apr 2026

Telomerase Knockout In Myeloid Cells Predisposes Mice To Foam Cell Formation, Dyslipidemia, Lung Fibrosis, And Cardiac Dysfunction, Zhanguo Gao, Yongmei Yu, David Wiggins, Eva M Sevick-Muraca, Mikhail G Kolonin

The Brown Foundation: Institute of Molecular Medicine

Aging-associated changes in myeloid cells are incompletely understood. One of the culprits of aging is the downregulation of the Tert gene coding for the catalytic subunit of telomerase. Studies of mouse models with Tert knockout (KO) in specific cells have revealed the importance of the telomere-independent noncanonical function of TERT in supporting mitochondrial metabolism and protection from cell senescence. To investigate the role of TERT in myeloid cells (MCs), we analyzed mice with Tert KO in the LysM+ lineage, indelibly labeled with membrane green fluorescent protein (mG). Macrophage numbers and properties in various organs were compared. Changes in the vasculature, …


Comparing Stress Levels And Experiences Between Mothers And Fathers Of Children With Angelman Syndrome, Katherine Helen Fix Apr 2026

Comparing Stress Levels And Experiences Between Mothers And Fathers Of Children With Angelman Syndrome, Katherine Helen Fix

Theses and Dissertations

Angelman syndrome (AS) is a neurogenetic disorder characterized by significant developmental and cognitive impairments, disruptive behaviors, and a hallmark happy demeanor. Past studies have shown that certain features of AS contribute to increased parental stress. Other studies report that in general the stress of parents of children with disabilities is influenced by stereotypical gender roles surrounding factors including daily care taking tasks, financial responsibility, and medical care involvement. This study aimed to compare perspectives among mothers and fathers of individuals with AS to identify discrepancies and themes relating to stress, specific hardships, and caregiving roles. Parents of children with AS …


Probability Of Fentanyl Adulteration In Cocaine Selectively Decreases Cocaine Demand, Cecilia Nunez, Jin H Yoon, James Mackillop, Margaret C Wardle Apr 2026

Probability Of Fentanyl Adulteration In Cocaine Selectively Decreases Cocaine Demand, Cecilia Nunez, Jin H Yoon, James Mackillop, Margaret C Wardle

Faculty, Staff and Student Publications

Fentanyl-related, cocaine-overdose deaths have drastically increased, yet research on how people who use cocaine perceive fentanyl adulteration is limited. This study developed the novel Adulterated Cocaine Purchasing Task (ACocPT), a modification of the original Cocaine Purchasing Task, to quantify how people respond to fentanyl adulteration in cocaine. In the ACocPT, participants indicated how much cocaine they would purchase when cocaine had no (0%) vs. some (10%) probability of fentanyl adulteration. Study aims were: 1) determine how possible fentanyl adulteration affects cocaine demand, and 2) determine which individual characteristics predict continued demand for cocaine despite fentanyl adulteration. This Amazon Mechanical Turk …


Reply To Ozkok Et Al., Vikas Kannojiya, Akshita Sahni, Emily Eickhoff, Neha Zacharia, Nicole St Clair, Noah Schulz, Peter E Hammer, Pedro J Del Nido, Rahul H Rathod, David M Hoganson, Vijay Govindarajan Apr 2026

Reply To Ozkok Et Al., Vikas Kannojiya, Akshita Sahni, Emily Eickhoff, Neha Zacharia, Nicole St Clair, Noah Schulz, Peter E Hammer, Pedro J Del Nido, Rahul H Rathod, David M Hoganson, Vijay Govindarajan

Faculty, Staff and Student Publications

No abstract provided.


Associations Between Sociodemographic Predictors And Age Of Referral For Autism Spectrum Disorder (Asd) Diagnosis Since The Beginning Of The Covid-19 Pandemic, Mallika Mathur, Ruosha Li, Sandra Mckay, Christine Markham, Deepali K Ernest, Shreela Sharma Apr 2026

Associations Between Sociodemographic Predictors And Age Of Referral For Autism Spectrum Disorder (Asd) Diagnosis Since The Beginning Of The Covid-19 Pandemic, Mallika Mathur, Ruosha Li, Sandra Mckay, Christine Markham, Deepali K Ernest, Shreela Sharma

Faculty, Staff and Student Publications

Purpose: Sociodemographic characteristics, such as race and ethnicity, are associated with delays in ASD diagnosis. However, limited literature has examined the characteristics associated with delayed diagnosis since the start of the COVID-19 pandemic. This study aimed to identify the individual and aggregate sociodemographic characteristics associated with the age at which a child receives a referral for a diagnosis (from March 2020 to May 2023) and evaluate the impacts of the pandemic on this association.

Methods: Using cross-sectional data obtained from patients' electronic health records and the U.S. Census Bureau, we examined associations using linear regressions (N = 507). A subgroup …


Fronto-Cerebellar Features Associate With Cognitive Dysfunction In Childhood-Onset Systemic Lupus Erythematosus, Raquel Van Gool, Merve Koç Yekedüz, Lise Vrolix, Itamar Ronen, Vanessa Rameh, Kyle Mcbrearty, Aditi Deokar, Robert P Sundel, Eyal Muscal, Joseph Gonzalez-Heydrich, Andrea Knight, Joyce C Chang, Jaymin Upadhyay Apr 2026

Fronto-Cerebellar Features Associate With Cognitive Dysfunction In Childhood-Onset Systemic Lupus Erythematosus, Raquel Van Gool, Merve Koç Yekedüz, Lise Vrolix, Itamar Ronen, Vanessa Rameh, Kyle Mcbrearty, Aditi Deokar, Robert P Sundel, Eyal Muscal, Joseph Gonzalez-Heydrich, Andrea Knight, Joyce C Chang, Jaymin Upadhyay

Faculty, Staff and Students Publications

Objective: Cognitive dysfunction (CD) is a prevalent symptom in childhood-onset systemic lupus erythematosus (cSLE). This study aimed to investigate the neurobehavioral basis of CD in cSLE.

Methods: Patients with cSLE (N=20) and age- and sex-matched healthy controls (HCs, N=20) completed questionnaires and multiple neurocognitive tests. The Systemic Lupus Erythematosus Disease Activity Index 2000 and laboratory markers were used to monitor patients' clinical status. Neuroimaging assessments included functional near-infrared spectroscopy (fNIRS), functional magnetic resonance imaging (fMRI), and structural MRI.

Results: cSLE patients demonstrated moderate disease activity with high inflammation and immune dysregulation, alongside low medication adherence. Relative to HCs, cSLE patients …


Variability In The Orthopaedic Residency Trainee Trauma Surgical Experience, Zbigniew Gugala, Melvyn Harrington, Douglas R Dirschl Apr 2026

Variability In The Orthopaedic Residency Trainee Trauma Surgical Experience, Zbigniew Gugala, Melvyn Harrington, Douglas R Dirschl

Faculty, Staff and Students Publications

Background: The aim of this study was to analyze fracture fixation case logs from residents training at a level 1 trauma center to assess variability across residents' surgical experiences within a single residency program. The authors hypothesize that notable variability exists between residents' surgical experiences in fracture care.

Methods: A retrospective case series was conducted at a single, urban residency program with a level 1 trauma center. Completed case logs were collected from program graduates from 2022 to 2024. All surgical cases involving fracture fixation at the level 1 trauma center were included for analysis. The anatomic region of the …


Results Of A Randomized, Double-Masked, Placebo-Controlled Phase 1/2 Study Of A Trpv1 Antagonist Sjp-0132 In Participants With Dry Eye Disease Apr 2026

Results Of A Randomized, Double-Masked, Placebo-Controlled Phase 1/2 Study Of A Trpv1 Antagonist Sjp-0132 In Participants With Dry Eye Disease

Faculty, Staff and Students Publications

Purpose: To investigate the safety, tolerability, pharmacokinetic profile, and efficacy of SJP-0132 in participants with dry eye disease (DED).

Design: Phase 1/2, randomized, double-masked, single-center, placebo-controlled single and multiple ascending dose study.

Participants: Generally healthy adults aged ≥18 years with a patient-reported history of DED for ≥6 months, eye dryness visual analog scale (VAS: 0-100) ≥40 mm, 5-item dry eye questionnaire (DEQ-5) ≥6, and central corneal fluorescein staining (CFS) of 2 to 4 (Baylor scale: 0-5 for each of five zones).

Methods: This study consisted of Part A and Part B, containing four single- and two multiple-ascending dose cohorts, respectively. …


The International Pediatric Headache Didactic Series: A Novel Curriculum Innovation, Samantha L Irwin, Irene Patniyot Apr 2026

The International Pediatric Headache Didactic Series: A Novel Curriculum Innovation, Samantha L Irwin, Irene Patniyot

Faculty, Staff and Students Publications

Objectives: The International Pediatric Headache Didactic Series (IPHDS) was developed to provide free, comprehensive pediatric headache education to healthcare professionals worldwide. The objective of this study was to describe the design, implementation, and impact of this prospective educational intervention.

Background: Headache is the most common neurological symptom within the pediatric population. Yet, only nine fellowships are offered in pediatric headache medicine. Limitations in access to education and training are often cited as reasons for diagnostic and management barriers. To address this gap, the IPHDS was established in July 2022.

Methods: IPHDS is a recurring series consisting of 23 biweekly lectures. …


Driveline Infections Among Patients Supported With Left Ventricular Assist Devices: A Single Center Sixteen-Year Longitudinal Profile, Andrew Civitello, O Howard Frazier, Todd Rosengart, Kenneth Liao Apr 2026

Driveline Infections Among Patients Supported With Left Ventricular Assist Devices: A Single Center Sixteen-Year Longitudinal Profile, Andrew Civitello, O Howard Frazier, Todd Rosengart, Kenneth Liao

Faculty, Staff and Students Publications

Background: Left ventricular assist device (LVAD) driveline infections significantly impact patient outcomes. This study aimed to identify their risk factors.

Methods: We analyzed LVAD data from our institutional Intermacs database (January 1, 2008-December 31, 2023), combining primary implants and pump exchanges. Patient characteristics were summarized as frequencies for categorical variables and median (IQR) for continuous variables. The nature of repeated infection events was handled by the Andersen-Gill method within a multivariable Cox proportional hazards model for cause-specific hazard of driveline infections, accounting for death and heart transplant as competing risks.

Results: Our cohort included 1026 LVAD implants. Median patient age …


The Impact Of Estrogen Replacement During Perimenopause On Lung Function And Airway Inflammation In The Vcd Mouse Model, Joselyn Joanna Rojas Quintero, Francesca Polverino, John P Konhilas, Julie G Ledford Apr 2026

The Impact Of Estrogen Replacement During Perimenopause On Lung Function And Airway Inflammation In The Vcd Mouse Model, Joselyn Joanna Rojas Quintero, Francesca Polverino, John P Konhilas, Julie G Ledford

Faculty, Staff and Students Publications

Background:

Menopause associated asthma impacts a subset of women and is less responsive to current treatments. Mechanisms driving this late onset asthma are unknown. We recently developed a mouse model of menopause associated asthma using a combination of 4-Vinylcyclohexene Diepoxide (VCD) and House Dust Mite (HDM) exposures. The goal of this study was to determine how hormone replacement therapy during perimenopause impacts lung function and inflammation.

Methods:

The experimental groups included menopausal mice (VCD) with and without exposure to HDM (to model allergic airways disease) and menopausal mice with and without hormone replacement therapy (HRT; via estrogen pellet implantation). Lung …


Identifying The Strongest Novel Gene-Respiratory Disease Interactions For Rheumatoid Arthritis Risk, Xiaosong Wang, Elizabeth J Atkinson, John M Davis, Jeffrey A Sparks, James R Cerhan, Elena K Joerns, Robert Vassallo, Cynthia S Crowson Apr 2026

Identifying The Strongest Novel Gene-Respiratory Disease Interactions For Rheumatoid Arthritis Risk, Xiaosong Wang, Elizabeth J Atkinson, John M Davis, Jeffrey A Sparks, James R Cerhan, Elena K Joerns, Robert Vassallo, Cynthia S Crowson

Faculty, Staff and Students Publications

Objective: We aimed to identify the strongest individual gene-respiratory interactions for rheumatoid arthritis (RA) risk.

Methods: This case-control study used the Mayo Clinic (MC) and Mass General Brigham (MGB) biobanks for discovery and validation, respectively. We matched criteria-confirmed incident RA cases to four non-RA controls on age, sex, and duration electronic health record (EHR) history. Genetic exposures included known RA risk alleles. We identified respiratory diseases by codes and defined "respiratory burden" as the total number of respiratory codes divided by EHR duration before index date of RA. Using logistic regression models adjusting for potential confounders, we estimated odds ratios …


Robotic-Assisted Transumbilical Single-Site And Transvaginal Notes Resection Of Abdominal Wall Cesarean Scar Endometriosis: Two Case Reports, Chunhua Zhang Apr 2026

Robotic-Assisted Transumbilical Single-Site And Transvaginal Notes Resection Of Abdominal Wall Cesarean Scar Endometriosis: Two Case Reports, Chunhua Zhang

Faculty, Staff and Students Publications

No abstract provided.


Novel Variants Identified In Families With Snx27 -Related Neurodevelopmental Disorder, Aiding In Characterizing Its Genotypic And Phenotypic Spectrum, Mulazim Hussain, Yumei Li, Hafiz Muhammad Jafar Hussain, Kiran Afshan, Suzanne M Leal, Rui Chen, Asif Mir, Isabelle Schrauwen, Sabika Firasat Apr 2026

Novel Variants Identified In Families With Snx27 -Related Neurodevelopmental Disorder, Aiding In Characterizing Its Genotypic And Phenotypic Spectrum, Mulazim Hussain, Yumei Li, Hafiz Muhammad Jafar Hussain, Kiran Afshan, Suzanne M Leal, Rui Chen, Asif Mir, Isabelle Schrauwen, Sabika Firasat

Faculty, Staff and Students Publications

Background:

Sorting Nexin 27 (SNX27), a key regulator of synaptic receptor trafficking and endosomal recycling, has been implicated in maintaining synaptic homeostasis and cognitive function. To date, variants in SNX27 have been reported in a small number of patients across three publications with severe neurodevelopmental phenotypes. However, the genetic and functional landscape of SNX27-related disorders remains poorly understood, and further evidence is needed to confirm its association with disease and to better delineate the associated phenotype.

Methods and Results:

Two unrelated Pakistani families with a total of five affected individuals segregating a neurodevelopmental disorder were investigated via exome …


Kidney Disease And Heart Failure: Recent Advances And Current Challenges: Conclusions From A Kidney Disease: Improving Global Outcomes (Kdigo) Controversies Conference, Justin A Ezekowitz, Meg J Jardine, Sadiya S Khan, Magdalena Madero, Mark J Sarnak, Jozine M Ter Maaten, Michael Cheung, Jennifer M King, Morgan E Grams, Michel Jadoul, Nisha Bansal Apr 2026

Kidney Disease And Heart Failure: Recent Advances And Current Challenges: Conclusions From A Kidney Disease: Improving Global Outcomes (Kdigo) Controversies Conference, Justin A Ezekowitz, Meg J Jardine, Sadiya S Khan, Magdalena Madero, Mark J Sarnak, Jozine M Ter Maaten, Michael Cheung, Jennifer M King, Morgan E Grams, Michel Jadoul, Nisha Bansal

Faculty, Staff and Students Publications

Heart failure (HF) and chronic kidney disease (CKD) frequently coexist, which elevates the risks of hospitalization, disease progression, and death. Despite advances in treating each condition independently, many challenges remain in diagnosing and managing them in combination. In March 2024, Kidney Disease: Improving Global Outcomes (KDIGO) held the Controversies Conference on Kidney Disease and Heart Failure: Recent Advances and Current Challenges. Discussions highlighted the complex, bidirectional relationship between HF and CKD, including shared risk factors and overlapping pathophysiology as well as nuances in interpreting biomarkers such as natriuretic peptides and serum creatinine. Sodium-glucose cotransporter-2 inhibitors, renin-angiotensin-aldosterone system inhibitors, and emerging …


Feasibility Of A Large Language Model Chatbot To Support Parental Understanding In The Picu, Sriya Kakarla, Pamela Petersen, Shelley Kumar, Thomas Rappold, Sanjiv Mehta Apr 2026

Feasibility Of A Large Language Model Chatbot To Support Parental Understanding In The Picu, Sriya Kakarla, Pamela Petersen, Shelley Kumar, Thomas Rappold, Sanjiv Mehta

Faculty, Staff and Students Publications

Objectives: To evaluate the feasibility of a large language model (LLM)-based chatbot for answering parental questions in the PICU and inform design of a randomized controlled trial (RCT).

Design: Prospective single-arm feasibility study conducted from August 2024 to December 2024.

Setting: Quaternary PICU.

Subjects: Fourteen parents of children admitted to the PICU.

Interventions: Parents engaged in 10-minute sessions with a HIPAA-compliant GPT-4o- (Generative Pretrained Transformer 4o, OpenAI, San Francisco, CA) based chatbot prompted with patient-specific electronic health record (EHR) data.

Measurements and main results: Feasibility was assessed through four criteria: parental engagement and satisfaction, provider perceptions, accuracy and safety, and …


Utility Of Diagnostic Arthroscopy Before Medial Patellofemoral Ligament Reconstruction In Pediatric And Adolescent Patients Without Articular Findings On Magnetic Resonance Imaging, Scott D Mckay, Indranil Kushare Apr 2026

Utility Of Diagnostic Arthroscopy Before Medial Patellofemoral Ligament Reconstruction In Pediatric And Adolescent Patients Without Articular Findings On Magnetic Resonance Imaging, Scott D Mckay, Indranil Kushare

Faculty, Staff and Students Publications

BACKGROUND: Medial patellofemoral ligament (MPFL) reconstruction is frequently used to manage recurrent patellar instability. Diagnostic arthroscopy is commonly performed before MPFL reconstruction to identify, confirm, and address intra-articular pathology. However, when preoperative magnetic resonance imaging (MRI) does not demonstrate intra-articular lesions, it is unclear how often diagnostic arthroscopy in pediatric patients alters surgical management.

PURPOSE: To determine the utility of diagnostic arthroscopy in young patients undergoing MPFL reconstruction who had no intra-articular chondral or osteochondral pathology, meniscal tears, or loose bodies identified on preoperative MRI, and to characterize intra-articular pathology detected on arthroscopy but not identified on MRI.

STUDY DESIGN: …


Robotic Single-Incision Laparoscopic Surgery For The Management Of Endometriosis: First Experience Via The Da Vinci Sp Platform Apr 2026

Robotic Single-Incision Laparoscopic Surgery For The Management Of Endometriosis: First Experience Via The Da Vinci Sp Platform

Faculty, Staff and Students Publications

Objective: To demonstrate the feasibility and mid-term outcomes of Robotic single-port single-incision laparoscopic surgery (RSP-SILS) for endometriosis management.

Methods: A retrospective analysis was conducted on 50 adult women with endometriosis who underwent RSP-SILS via the da Vinci SP platform between November 2023 and July 2025.

Results: Median total operative time was 142 min, robot dock time was 3 min, and robot console time was 99 min. Median estimated blood loss was 25 mL. No conversion occurred. Reported mid-term outcomes included 1 case each of pelvic haematoma, Clostridioides difficile colitis, and umbilical surgical site infection, as well as 3 cases of …