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Overview Of Huntington's Disease And Emerging Treatment Strategies: A Narrative Review, Alexis J. Vega, Gabriel V. Hernandez, Pearse A. O'Malley, Connor J. Robin, Amanda N. Parra, Giustino Varrassi, Sahar Shekoohi, Alan D. Kaye Dec 2025

Overview Of Huntington's Disease And Emerging Treatment Strategies: A Narrative Review, Alexis J. Vega, Gabriel V. Hernandez, Pearse A. O'Malley, Connor J. Robin, Amanda N. Parra, Giustino Varrassi, Sahar Shekoohi, Alan D. Kaye

School of Medicine Faculty Publications

Huntington's disease (HD) is an autosomal dominant, progressive neurodegenerative disorder caused by a cytosine-adenine-guanine trinucleotide repeat expansion in the huntingtin (HTT) gene. The symptoms of HD include severe motor dysfunction, cognitive issues, and emotional dysregulation. These combined issues are not only debilitating but also lead to depression/anxiety, increased suicide rates, and caregiver burnout. Our narrative review summarizes several recent studies examining the efficacy and differences among emerging treatment strategies for HD. A systematic search of peer-reviewed literature was conducted, focusing on recent studies that describe molecular genetic manipulation of the HTT gene/huntingtin protein. The results of our narrative review reveal …


Endoscopic Retrograde Cholangiopancreatography And Primary Sclerosing Cholangitis: A Retrospective Study Of A High-Volume Program, Kristel Leung, Michael Youssef, Yasi Xiao, Catherine Streutker, Aliya Gulamhusein, Bettina Hansen, Natalia Calo, Gary May, Jeffrey Mosko, Gideon Hirschfield Dec 2025

Endoscopic Retrograde Cholangiopancreatography And Primary Sclerosing Cholangitis: A Retrospective Study Of A High-Volume Program, Kristel Leung, Michael Youssef, Yasi Xiao, Catherine Streutker, Aliya Gulamhusein, Bettina Hansen, Natalia Calo, Gary May, Jeffrey Mosko, Gideon Hirschfield

Division of Gastroenterology and Hepatology Faculty Papers

BACKGROUND: Endoscopic retrograde cholangiopancreatography (ERCP) is valuable in management of primary sclerosing cholangitis (PSC). Herein, we characterize individuals with PSC who underwent ERCP on-demand at a high-volume quaternary centre, with evaluation of pathology results and short-term postprocedural outcomes.

METHODS: This retrospective cohort study evaluated patients with PSC who underwent ERCP at St Michael's Hospital between April 2011 and July 2021. Chart review was conducted to collect clinical, procedural, and pathology data, and reported post-ERCP complications within 90 days. Logistic regression analyses were conducted to evaluate factors associated with post-ERCP complications and placement of a biliary stent.

RESULTS: One hundred and …


Incidence And Management Of Adverse Events Associated With Tebentafusp Treatment In Metastatic Uveal Melanoma: Pooled Safety Analysis Of 410 Patients, Takami Sato, Marcus O. Butler, Sophie Piperno-Neumann, Jessica C. Hassel, Paul Nathan, Alexander N. Shoushtari, Piotr Rutkowski, Richard D. Carvajal, Jean-Francois Baurain, Max Schlaak, Josep M. Piulats, Ryan J. Sullivan, Sebastian Ochsenreither, Reinhard Dummer, John M. Kirkwood, Alexandra Ikeguchi, Anthony M. Joshua, Mark R. Middleton, Ramakrishna Edukulla, Constance Pfeiffer, Joseph J. Sacco Dec 2025

Incidence And Management Of Adverse Events Associated With Tebentafusp Treatment In Metastatic Uveal Melanoma: Pooled Safety Analysis Of 410 Patients, Takami Sato, Marcus O. Butler, Sophie Piperno-Neumann, Jessica C. Hassel, Paul Nathan, Alexander N. Shoushtari, Piotr Rutkowski, Richard D. Carvajal, Jean-Francois Baurain, Max Schlaak, Josep M. Piulats, Ryan J. Sullivan, Sebastian Ochsenreither, Reinhard Dummer, John M. Kirkwood, Alexandra Ikeguchi, Anthony M. Joshua, Mark R. Middleton, Ramakrishna Edukulla, Constance Pfeiffer, Joseph J. Sacco

Kimmel Cancer Center Papers, Presentations, and Grand Rounds

PURPOSE: We conducted an integrated safety analysis from three clinical studies of tebentafusp, a first-in-class ImmTAC bispecific T-cell engager, which can redirect T cells to target glycoprotein 100-positive cells, in metastatic uveal melanoma.

EXPERIMENTAL DESIGN: HLA-A*02:01-positive patients with unresectable or metastatic uveal melanoma enrolled in three clinical trials (IMCgp100-01, IMCgp100-102, and IMCgp100-202) who received ≥1 dose of tebentafusp were included. Safety data were pooled to evaluate the profile, onset, and management of treatment-related adverse events (TRAE). Adverse events of special interest included cytokine release syndrome (CRS), acute skin reactions (ASR), and liver function test elevations. Primary prophylaxis with medications was …


Factors Associated With Stillbirth In Four Selected Hospital Maternity Units: An Unmatched Case-Control Study In Eswatini, Phetsile Thwala, Abednego Ongeso, Rose Maina, Benard Mutwiri Dec 2025

Factors Associated With Stillbirth In Four Selected Hospital Maternity Units: An Unmatched Case-Control Study In Eswatini, Phetsile Thwala, Abednego Ongeso, Rose Maina, Benard Mutwiri

School of Nursing & Midwifery, East Africa

Background: Stillbirth is a substantially under-recognized adverse pregnancy outcome that predominantly occurs in low-middle-income countries. In 2019, Eswatini’s stillbirth rate was 13.2 per 1,000 births, higher than global targets. However, there is limited research on stillbirths in Eswatini. This study analyzed factors associated with stillbirths among women giving birth in four selected hospitals.

Methods: A multi-center unmatched case-control study was conducted using secondary data sources from July 1 to December 31, 2021. Birth records of 268 stillbirths (cases) and 1,151 live births (controls) were selected using consecutive and systematic random sampling, respectively. A piloted data extraction tool was used to …


Identifying Barriers For Community Pharmacies As Vaccines For Children (Vfc) Providers In Rural Alabama: Opportunities For Solutions, Myra Bajwa Dec 2025

Identifying Barriers For Community Pharmacies As Vaccines For Children (Vfc) Providers In Rural Alabama: Opportunities For Solutions, Myra Bajwa

Honors Theses

Significant Human papillomavirus (HPV) vaccination disparities exist between rural and urban areas in the US. A primary contributor is low access to preventive care in rural areas. Among the most promising strategies to overcome this is increasing access through offering HPV vaccination in non-traditional, convenient health settings such as pharmacies. In rural areas, community pharmacies are trusted, convenient pillars of the community. In Alabama, community pharmacies are eligible for enrollment in the Vaccines for Children (VFC) Program, a federally-funded program that provides free vaccines to children and adolescents under 18 years old who are uninsured, underinsured, American Indian, or Alaska …


Impact Of Intravenous Drug Use On Neck Abscess Outcomes: 30-Day Readmission & 5-Year Survival Rates, Elliott Sina, Bryce Hambach, Eric Mastrolonardo, Sruti Tekumalla, Meghan Crippen, Richard A. Goldman Dec 2025

Impact Of Intravenous Drug Use On Neck Abscess Outcomes: 30-Day Readmission & 5-Year Survival Rates, Elliott Sina, Bryce Hambach, Eric Mastrolonardo, Sruti Tekumalla, Meghan Crippen, Richard A. Goldman

Department of Otolaryngology - Head and Neck Surgery Faculty Papers

OBJECTIVES: Injection drug use (IDU) is a known risk factor for neck abscesses, often requiring urgent surgical intervention by acute-care Otolaryngologists. However, data on the prevalence and long-term outcomes of IDU-related neck abscesses are limited. This study investigates differences in 30-day readmission rates and 5-year all-cause mortality between patients with and without a history of IDU hospitalized for neck abscesses.

METHODS: This is a retrospective cohort study utilizing the TriNetX national clinical database. Patients hospitalized for neck abscesses (ICD-10: L02.11) were categorized into two cohorts: IDU (current/previous) and non-IDU. Demographics, 30-day readmission rates, and 5-year survival were analyzed. 1:1 Propensity …


Phosphorylation At S1288 Of Leukemia Associated Rhogef (Larg/Arhgef12) Induces Plasma Membrane Localization And Promotes Binding And Activation Of Rhoa, Won Seok Yang, Neda Z. Ghanem, Steven D. Scahill, Maisel J. Caliva, Hannah Röttig, Annika Fitz, Michelle L. Matter, Joe W. Ramos Dec 2025

Phosphorylation At S1288 Of Leukemia Associated Rhogef (Larg/Arhgef12) Induces Plasma Membrane Localization And Promotes Binding And Activation Of Rhoa, Won Seok Yang, Neda Z. Ghanem, Steven D. Scahill, Maisel J. Caliva, Hannah Röttig, Annika Fitz, Michelle L. Matter, Joe W. Ramos

School of Graduate Studies Faculty Publications

Leukemia-associated RhoGEF (LARG) is a guanine nucleotide exchange factor (GEF) known for its specificity toward Ras homolog family member A (RhoA). LARG plays a crucial regulatory role in various cellular processes such as migration, proliferation, invasion, and metastasis by facilitating the exchange of GDP to GTP on RhoA. Phosphorylation of LARG at S1288 by ribosomal S6 kinase 2 (RSK2) promotes RhoA activation. However, the precise mechanism remains unclear. Here, we demonstrate the essential role and mechanism by which S1288 phosphorylation facilitates LARG-mediated invasiveness in response to epidermal growth factor (EGF). Upon EGF stimulation, RSK2 phosphorylates LARG at S1288, thereby promoting …


Health Outcomes Of Sarcopenia: A Consensus Report By The Outcome Working Group Of The Global Leadership Initiative In Sarcopenia (Glis), Charlotte Beaudart, Julian Alcazar, Ivan Aprahamian, John A. Batsis, Yosuke Yamada, Carla M. Prado, Jean Yves Reginster, Dolores Sanchez-Rodriguez, Wee Shiong Lim, Marc Sim, Stephan Von Haehling, Jean Woo, Gustavo Duque Dec 2025

Health Outcomes Of Sarcopenia: A Consensus Report By The Outcome Working Group Of The Global Leadership Initiative In Sarcopenia (Glis), Charlotte Beaudart, Julian Alcazar, Ivan Aprahamian, John A. Batsis, Yosuke Yamada, Carla M. Prado, Jean Yves Reginster, Dolores Sanchez-Rodriguez, Wee Shiong Lim, Marc Sim, Stephan Von Haehling, Jean Woo, Gustavo Duque

Research outputs 2022 to 2026

The Global Leadership Initiative in Sarcopenia (GLIS) aims to standardize the definition and diagnostic criteria for sarcopenia into one unifying, common classification. Among other actions to achieve this objective, the GLIS has organized three different working groups (WGs), with the WG on outcomes of sarcopenia focusing on reporting its health outcomes to be measured in clinical practice once a diagnosis has been established. This includes sarcopenia definitions that better predict health outcomes, the preferred tools for measuring these outcomes, and the cutoffs defining normal and abnormal values. The present article synthesizes discussions and conclusions from this WG, composed of 13 …


Dual-Level Pattern Tree For Visual Field Improves Glaucoma Progression And Polygenic Risk Prediction, Luo Song, Lucy Q. Shen, Louis R. Pasquale, Michael V. Boland, Sarah R. Wellik, Carlos Gustavo De Moraes, Ayellet Segre, Janey L. Wiggs, Constance Turman, Jonathan S. Myers, Tobias Elze, Nazlee Zebardast, David S. Friedman, Jae H. Kang, Mengyu Wang Dec 2025

Dual-Level Pattern Tree For Visual Field Improves Glaucoma Progression And Polygenic Risk Prediction, Luo Song, Lucy Q. Shen, Louis R. Pasquale, Michael V. Boland, Sarah R. Wellik, Carlos Gustavo De Moraes, Ayellet Segre, Janey L. Wiggs, Constance Turman, Jonathan S. Myers, Tobias Elze, Nazlee Zebardast, David S. Friedman, Jae H. Kang, Mengyu Wang

Wills Eye Hospital Papers

PURPOSE: To develop a dual-level pattern tree to characterize visual field (VF) loss subtypes that can be used to better predict glaucoma progression and glaucoma polygenic risk scores (PRSs).

METHODS: This study included 113,030 patients from three datasets, each used for a specific purpose: (1) model training, (2) progression forecasting, and (3) PRS correlations. We applied archetypal analysis to cluster 24-2 VFs into trunk patterns and their branch patterns. The Cox regression model was used to forecast VF progression using mean deviation (MD) slope, MD-fast slope, total deviation (TD) pointwise slope, and visual field index (VFI) slope. Multivariable regression analyses …


Dna Methylation Markers Of Insulin Resistance Surrogate Measures In The Atherosclerosis Risk In Communities (Aric) Study, Jeewoen Shin, Jan Bressler, Megan L Grove, Michael Brown, Elizabeth Selvin, James S Pankow, Myriam Fornage, Alanna C Morrison, Chloé Sarnowski Dec 2025

Dna Methylation Markers Of Insulin Resistance Surrogate Measures In The Atherosclerosis Risk In Communities (Aric) Study, Jeewoen Shin, Jan Bressler, Megan L Grove, Michael Brown, Elizabeth Selvin, James S Pankow, Myriam Fornage, Alanna C Morrison, Chloé Sarnowski

Faculty, Staff and Student Publications

Insulin resistance (IR) is a risk factor for cardiovascular diseases and type 2 diabetes. Associations between DNA methylation (DNAm) and IR have been less studied in African ancestry (AA) populations than those of European ancestry (EA). We aimed to identify associations between whole blood DNAm and IR in up to 1,811 AA and 964 EA participants from the Atherosclerosis Risk in Communities (ARIC) study. We quantified IR using three surrogate measures: the homeostasis model assessment of insulin resistance (HOMA-IR), the triglyceride-glucose index (TyG), and the triglyceride glucose-body mass index (TyG-BMI). We used ancestry-stratified linear regression models to conduct epigenome-wide association …


Adaptive Compulsion, Amanda A. Santos Dec 2025

Adaptive Compulsion, Amanda A. Santos

Electronic Theses, Projects, and Dissertations

Adaptive

Adjective

Adap.tive ( ə-ˈdap-tiv)

of, relating to, or being a heritable trait that serves a specific function and improves an organism's fitness or survival

Compulsion

Noun

Com.pul.sion (kəm-ˈpəl-shən)

a repetitive behavior or mental act that a person feels driven to perform to alleviate the anxiety and distress caused by an unwanted thought or urge, known as an obsession.

For years we have lived in unprecedented times. From the worldwide quarantine in 2020 resulting from the pandemic, to our current US political crisis. The constant barrage of events is overwhelming and demoralizing.

The work in this gallery is a display …


Exercise For Postmenopausal Bone Health – Can We Raise The Bar?, Shejil Kumar, Cassandra Smith, Roderick J. Clifton-Bligh, Belinda R. Beck, Christian M. Girgis Dec 2025

Exercise For Postmenopausal Bone Health – Can We Raise The Bar?, Shejil Kumar, Cassandra Smith, Roderick J. Clifton-Bligh, Belinda R. Beck, Christian M. Girgis

Research outputs 2022 to 2026

Purpose of Review: This review summarises the latest evidence on effects of exercise on falls prevention, bone mineral density (BMD) and fragility fracture risk in postmenopausal women, explores hypotheses underpinning exercise-mediated effects on BMD and sheds light on innovative concepts to better understand and harness the skeletal benefits of exercise. Recent Findings: Multimodal exercise programs incorporating challenging balance exercises can prevent falls. Emerging clinical trial evidence indicates supervised progressive high-intensity resistance and impact training (HiRIT) is efficacious in increasing lumbar spine BMD and is safe and well-tolerated in postmenopausal women with osteoporosis/osteopenia. There remains uncertainty regarding durability of this load-induced …


Interpretive Prediction Of Hyperuricemia And Gout Patients Via Machine Learning Analysis Of Human Gut Microbiome, Jia Wei Tang, Alfred Chin Yen Tay, Liang Wang Dec 2025

Interpretive Prediction Of Hyperuricemia And Gout Patients Via Machine Learning Analysis Of Human Gut Microbiome, Jia Wei Tang, Alfred Chin Yen Tay, Liang Wang

Research outputs 2022 to 2026

Hyperuricemia (HUA) and gout result from imbalances in uric acid metabolism and are closely associated with the gut microbiota. Advanced analytical methods facilitate the exploration of microbiota complexity. In this study, 16S rRNA sequencing data from stool samples of 233 patients were thoroughly collected. Machine learning (ML) and Shapley Additive exPlanations (SHAP) interpretability algorithms were applied to identify core taxa and predict the metabolic functions. The results revealed that the high-contribution core taxa identified by SHAP in each group, such as Oscillospiraceae_UCG-005 and Rhodococcus provided the basis for ML prediction. Among the five classification models, Random Forest (RF) achieved the …


Neutrophil Gelatinase-Associated Lipocalin And Fibrinogen-To-Albumin Ratio Are Indicators Of Kidney Disease In Sickle Cell Disease Patients With Microalbuminuria: A Multicentre Case-Control Study In Ghana, Stephen Twumasi, Enoch Odame Anto, Christian Obirikorang, Richard Kobina Dadzie Ephraim, Benedict Sackey, Vivian Paintsil, Richard Owusu Ansah, Alfred Effah, Allwell Adofo Ayirebi, Angela Opoku, Godfred Yawson Scott, Leslie Osei, Joyce Duku, Emmanuel Asafo Adjei, Lilian Antwi Boateng Dec 2025

Neutrophil Gelatinase-Associated Lipocalin And Fibrinogen-To-Albumin Ratio Are Indicators Of Kidney Disease In Sickle Cell Disease Patients With Microalbuminuria: A Multicentre Case-Control Study In Ghana, Stephen Twumasi, Enoch Odame Anto, Christian Obirikorang, Richard Kobina Dadzie Ephraim, Benedict Sackey, Vivian Paintsil, Richard Owusu Ansah, Alfred Effah, Allwell Adofo Ayirebi, Angela Opoku, Godfred Yawson Scott, Leslie Osei, Joyce Duku, Emmanuel Asafo Adjei, Lilian Antwi Boateng

Research outputs 2022 to 2026

Background: Neutrophil gelatinase-associated lipocalin (NGAL) is present in secondary granules of neutrophils and it is a relatively newly recognized marker of kidney diseases. The fibrinogen-to-albumin ratio (FAR) is a marker of inflammation but its diagnostic value has not been determined in sickle cell disease patients with kidney diseases. This study investigated the diagnostic roles of serum neutrophil gelatinase-associated lipocalin (sNGAL) and FAR for kidney diseases in steady-state adult sickle cell disease (SCD) patients. Methods: This study employed a prospective case-control design and recruited 104 SCD participants and 80 non-SCD patients. Participants’ information was thoroughly documented using a structured questionnaire and …


Acute Dislocations Of The Sternoclavicular Joint: Treatment And Outcomes, Elsa B. Rodriguez-Baron, Fidel Moreno-Diaz, Daniel E. Pereira, Kathy Mcgurk, Langdon Hartsock, Lucy Bowers, Paul Matuszewski, Kevin Murr, John Sharpe, Michael Tucker, Nathan Redlich, Peter Krause, Clay Spitler, Bradley Foulke, Grant Quilling, Abbey Debruin, Richard Behlmer, Paul Whiting, Stephanie Tanner, Kyle Jeray, Joseph Brock Walker, Sarah Obudzinski, Julie Titter, Andrew Chen, Aseel Dib, Christine Churchill, Benjamin Averkamp, Joseph Hsu, Kimberly Tann, Et Al Dec 2025

Acute Dislocations Of The Sternoclavicular Joint: Treatment And Outcomes, Elsa B. Rodriguez-Baron, Fidel Moreno-Diaz, Daniel E. Pereira, Kathy Mcgurk, Langdon Hartsock, Lucy Bowers, Paul Matuszewski, Kevin Murr, John Sharpe, Michael Tucker, Nathan Redlich, Peter Krause, Clay Spitler, Bradley Foulke, Grant Quilling, Abbey Debruin, Richard Behlmer, Paul Whiting, Stephanie Tanner, Kyle Jeray, Joseph Brock Walker, Sarah Obudzinski, Julie Titter, Andrew Chen, Aseel Dib, Christine Churchill, Benjamin Averkamp, Joseph Hsu, Kimberly Tann, Et Al

School of Medicine Faculty Publications

OBJECTIVES: Identify treatment and describe outcomes and complications of acute anterior and posterior sternoclavicular joint dislocation. DESIGN: Retrospective case series. SETTING: Twelve level-one trauma centers. PATIENT/PARTICIPANTS: One hundred twenty-five patients with acute sternoclavicular joint dislocation, most were male (67%), White (61%), 18-29 years old (57%), involved in a motorized collision (60%), with anterior (35%) or posterior (65%) sternoclavicular joint dislocation treated by operative or nonoperative technique. MAIN OUTCOME MEASUREMENTS: Outcomes and complications of joint instability, post-traumatic arthritis, neurovascular injury, chronic pain, and cosmetic deformities after operative and nonoperative treatment of anterior and posterior acute sternoclavicular joint dislocation are reported. RESULTS: …


Is Maternal Diabetes During Pregnancy Associated With Neurodevelopmental, Cognitive And Behavioural Outcomes In Children? Insights From Individual Participant Data Meta-Analysis In Ten Birth Cohorts, Rachelle A. Pretorius, Demetris Avraam, Mònica Guxens, Jordi Julvez, Jennifer R. Harris, Johanna Thorbjornsrud Nader, Tim Cadman, Ahmed Elhakeem, Katrine Strandberg-Larsen, Hanan El Marroun, Serena Defina, Tiffany C. Yang, Rosie Mceachan, John Wright, Jesús Ibarluzea, Loreto Santa-Marina, Juana Mari Delgado, Marisa Rebagliato, Marie Aline Charles, Chloe Vainqueur, Silvia Maritano, Daniela Zugna, Wen Lun Yuan, Barbara Heude, Rae Chi Huang Dec 2025

Is Maternal Diabetes During Pregnancy Associated With Neurodevelopmental, Cognitive And Behavioural Outcomes In Children? Insights From Individual Participant Data Meta-Analysis In Ten Birth Cohorts, Rachelle A. Pretorius, Demetris Avraam, Mònica Guxens, Jordi Julvez, Jennifer R. Harris, Johanna Thorbjornsrud Nader, Tim Cadman, Ahmed Elhakeem, Katrine Strandberg-Larsen, Hanan El Marroun, Serena Defina, Tiffany C. Yang, Rosie Mceachan, John Wright, Jesús Ibarluzea, Loreto Santa-Marina, Juana Mari Delgado, Marisa Rebagliato, Marie Aline Charles, Chloe Vainqueur, Silvia Maritano, Daniela Zugna, Wen Lun Yuan, Barbara Heude, Rae Chi Huang

Research outputs 2022 to 2026

Background: Growing evidence shows that dysregulated metabolic intrauterine environments can affect offspring’s neurodevelopment and behaviour. However, the results of individual cohort studies have been inconsistent. We aimed to investigate the association between maternal diabetes before pregnancy and gestational diabetes mellitus (GDM) with neurodevelopmental, cognitive and behavioural outcomes in children. Methods: Harmonised data from > 200 000 mother-child pairs across ten birth cohorts in Europe and Australia were available. Mother-child pairs were included for analysis to determine whether GDM was recorded (yes or no) and whether at least one neurodevelopmental, cognitive and behavioural outcome was available in children aged 3 to 13 …


Short-Term Preeclampsia Prediction: Cutoff Variations For Sflt-1/Plgf In U.S. Patients With Or Without Hypertensive Disorders, Yaxin Li, Kristen Cagino, Jim Yee, Caroline Andy, Dajana Borova, Ayush Shah, Isla Racine, Tracy Grossman, Zhen Zhao Dec 2025

Short-Term Preeclampsia Prediction: Cutoff Variations For Sflt-1/Plgf In U.S. Patients With Or Without Hypertensive Disorders, Yaxin Li, Kristen Cagino, Jim Yee, Caroline Andy, Dajana Borova, Ayush Shah, Isla Racine, Tracy Grossman, Zhen Zhao

Student Papers, Posters & Projects

BACKGROUND: Preeclampsia (PE) is a complex disorder with significant maternal and fetal risks. The soluble fms-like tyrosine kinase-1 (sFlt-1) and placental growth factor (PlGF) ratio shows promise as a diagnostic tool, but its adoption in the U.S. remains limited due to the lack of accessible testing platforms, U.S.-based studies, and evidence-based implementation guidelines.

PATIENTS/MATERIALS AND METHODS: We conducted a cohort study to evaluate the sFlt-1/PlGF ratio for predicting PE within two weeks among pregnant individuals ≥18 years, ≥20 weeks gestation. Serum samples were obtained from routine prenatal visits or triage evaluations. sFlt-1/PlGF ratios were measured using Roche Elecsys assays, and …


Generation Of Ipscs (Rfsci007-A, Rfsci008-A) From A Patient With Early-Onset Bilateral Drusen And A Healthy Sibling For Retinal Disease Modeling, Sonali Singh, Wendy Runyon, Sam Hu, Paige Grona Kennedy, Ajeet Singh, Rinki Ratnapriya, Ritu Kumar, Karl Csaky, Srinivasa R Sripathi Dec 2025

Generation Of Ipscs (Rfsci007-A, Rfsci008-A) From A Patient With Early-Onset Bilateral Drusen And A Healthy Sibling For Retinal Disease Modeling, Sonali Singh, Wendy Runyon, Sam Hu, Paige Grona Kennedy, Ajeet Singh, Rinki Ratnapriya, Ritu Kumar, Karl Csaky, Srinivasa R Sripathi

Faculty, Staff and Students Publications

Drusen are extracellular deposits between the retinal pigment epithelium and Bruch's membrane, commonly linked to age-related macular degeneration (AMD). However, their presence in younger individuals offers a unique opportunity to study early disease mechanisms before extensive degeneration. We generated two human induced pluripotent stem cell (hiPSC) lines from siblings' peripheral blood mononuclear cells-one with early-onset bilateral drusen and the other unaffected. This genetically matched iPSC pair enables investigation of early drusen associated pathological changes driving retinal disease development.


Ensuring Safety And Optimization In Total Joint Arthroplasty Of Cancer Patients: A Comprehensive Analysis Of Complication Risks And Modifiable Risk Factors, Tara Korbal, Robert Branstetter Iv, Matthew Cable, Deryk Jones, Lizheng Shi, Lauren Hall, Andrew Chapple Nov 2025

Ensuring Safety And Optimization In Total Joint Arthroplasty Of Cancer Patients: A Comprehensive Analysis Of Complication Risks And Modifiable Risk Factors, Tara Korbal, Robert Branstetter Iv, Matthew Cable, Deryk Jones, Lizheng Shi, Lauren Hall, Andrew Chapple

School of Medicine Faculty Publications

AIMS & OBJECTIVES: The primary objective of this study is to determine whether an active cancer diagnosis results in an increased risk of perioperative TJA complications and postoperative mortality. The secondary objective is to analyze the effects of demographic factors on perioperative complication rates in cancer patients undergoing TJA. MATERIALS & METHODS: Patients with active cancer diagnoses undergoing total joint arthroplasty from 2014 to 2020 were included in this retrospective analysis. Patient data was obtained through ReachNet, which consisted of data from the University Medical Center, Tulane University Medical Center, Ochsner Health System, and Baylor Scott & White Health. ICD-9/10 …


The Impact Of Extramedullary And Paraskeletal Plasmacytomas On Treatment Outcomes In Multiple Myeloma Treated With Teclistamab: U.S. Myeloma Immunotherapy Consortium Real-World Experience, Aimaz Afrough, Danai Dima, Beatrice Razzo, Utkarsh Goel, Aishwarya Sannareddy, Oren Pasvolsky, Mariola Vazquez-Martinez, Christopher Ferreri, Rahul Banerjee, Jack Khouri, James Davis, Mahmoud Gaballa, Alex Lieberman-Cribbin, Masooma Rana, Kelley Julian, Faiz Anwer, Leyla Shune, Shaun Dejarnette, Ariel Grajales-Cruz, Evguenia Ouchveridze, Gabriel De Avila, Sandra Susanibar-Adaniya, Andrew Portuguese, Daniel Schrum, Erin Eberwein, Hitomi Hosoya, Lekha Mikkilineni, Gurbakhash Kaur, Joseph Mcguirk, Adriana Rossi, Megan Herr, Omar Castaneda, Frederick Locke, Shahzad Raza, Yi Lin, Shebli Atrash, Douglas Sborov, Peter Voorhees, Shambavi Richard, Alfred Garfall, Surbhi Sidana, Krina Patel, Doris Hansen, Andrew Cowan, Larry Anderson, Hans Lee Nov 2025

The Impact Of Extramedullary And Paraskeletal Plasmacytomas On Treatment Outcomes In Multiple Myeloma Treated With Teclistamab: U.S. Myeloma Immunotherapy Consortium Real-World Experience, Aimaz Afrough, Danai Dima, Beatrice Razzo, Utkarsh Goel, Aishwarya Sannareddy, Oren Pasvolsky, Mariola Vazquez-Martinez, Christopher Ferreri, Rahul Banerjee, Jack Khouri, James Davis, Mahmoud Gaballa, Alex Lieberman-Cribbin, Masooma Rana, Kelley Julian, Faiz Anwer, Leyla Shune, Shaun Dejarnette, Ariel Grajales-Cruz, Evguenia Ouchveridze, Gabriel De Avila, Sandra Susanibar-Adaniya, Andrew Portuguese, Daniel Schrum, Erin Eberwein, Hitomi Hosoya, Lekha Mikkilineni, Gurbakhash Kaur, Joseph Mcguirk, Adriana Rossi, Megan Herr, Omar Castaneda, Frederick Locke, Shahzad Raza, Yi Lin, Shebli Atrash, Douglas Sborov, Peter Voorhees, Shambavi Richard, Alfred Garfall, Surbhi Sidana, Krina Patel, Doris Hansen, Andrew Cowan, Larry Anderson, Hans Lee

Department of Medical Oncology Faculty Papers

Teclistamab, a bispecific antibody targeting B-cell maturation antigen (BCMA), is effective in relapsed or refractory multiple myeloma (RRMM), but its impact on patients with soft tissue plasmacytomas is unclear. We studied 385 RRMM patients treated with teclistamab at 13 U.S. centers through September 2023, with follow-up to April 2024. Soft tissue plasmacytomas were classified as true extramedullary disease (EMD; not contiguous with bone) or paraskeletal plasmacytomas (PSK; contiguous with bone). Patients with the simultaneous presence of both were classified as true-EMD, reflecting its adverse prognosis. Of those, 109 (28%) had true EMD, 33 (9%) had PSK, and 243 (63%) had …


Gender Differences In Healthy Eating Index As Informed By The Awareness Of Diagnosis Of Metabolic Dysfunction-Associated Steatotic Liver Disease, Wei Ting Lin, Madeline Novack, Suthat Liangpunsakul, Chiung Kuei Huang, Hui Yi Lin, Po Hung Chen, Tung Sung Tseng, Peng Sheng Ting Nov 2025

Gender Differences In Healthy Eating Index As Informed By The Awareness Of Diagnosis Of Metabolic Dysfunction-Associated Steatotic Liver Disease, Wei Ting Lin, Madeline Novack, Suthat Liangpunsakul, Chiung Kuei Huang, Hui Yi Lin, Po Hung Chen, Tung Sung Tseng, Peng Sheng Ting

School of Public Health Faculty Publications

Background/Objectives: Dietary quality is a driver of metabolic dysfunction-associated steatotic liver disease (MASLD). Men and women often have different levels of adherence to medical advice, but the effect of gender on adherence to dietary advice as a function of awareness of MASLD is understudied. We aim to investigate the differences in diet quality between men and women who are aware of their diagnosis of MASLD compared to their undiagnosed counterparts. Methods: We utilized the National Health and Nutrition Examination Survey 2017–2020 to identify a nationally representative sample of subjects with MASLD, 127 of whom reported a diagnosis of MASLD (diagnosed …


Delphi Panel On Neuromodulation As A Treatment Strategy For Dry Eye Disease: Unlocking The Potential Of Natural Tear Production, Esen Akpek, Lyndon Jones, Kelly K Nichols, Lisa M Nijm, Stephen Pflugfelder Nov 2025

Delphi Panel On Neuromodulation As A Treatment Strategy For Dry Eye Disease: Unlocking The Potential Of Natural Tear Production, Esen Akpek, Lyndon Jones, Kelly K Nichols, Lisa M Nijm, Stephen Pflugfelder

Faculty, Staff and Students Publications

Purpose: Chronic tear deficiency, through reduced production and/or increased evaporation, is regarded as a root cause of dry eye disease (DED). The goal of treating DED is restoration of the tear film ultimately resulting in ocular surface homeostasis. Multiple therapeutic prescription drugs to manage DED exist with varying speed of onset, overall magnitude of efficacy, and tolerability. Neuromodulation is an emerging treatment modality offering direct stimulation of natural tear production. A modified Delphi study was conducted to explore the role of neuromodulation as a treatment for DED.

Methods: Twenty DED experts participated in three rounds of structured electronic Delphi questionnaires. …


Mucosal Melanoma: Mechanisms Of Its Etiology, Progression, Resistance And Therapy, Sofie-Yasmin Hassan, Thomas W. Flanagan, Sarah-Lilly Hassan, Sybille Facca, Youssef Haikel, Mohamed Hassan Nov 2025

Mucosal Melanoma: Mechanisms Of Its Etiology, Progression, Resistance And Therapy, Sofie-Yasmin Hassan, Thomas W. Flanagan, Sarah-Lilly Hassan, Sybille Facca, Youssef Haikel, Mohamed Hassan

School of Graduate Studies Faculty Publications

Mucosal melanoma (MM) is a rare, aggressive cancer whose incidence has increased continuously over the years. This subtype of melanoma arises from melanocytes on hairless surfaces, typically in the respiratory tract, gastrointestinal (GI) tract, and urogenital tract. The most common sites of occurrence include the head and neck, the anorectal region, and the vulvovaginal region, while the rare sites of MM are the urinary tract and the upper and lower GI tract, including the esophagus, duodenum and the gallbladder. MM arises in melanocytes of the ectodermal mucosa that originate from neural crest cells and migrate through embryonic mesenchyme to their …


The Mechanism Of Action Of Remote Electrical Neuromodulation (Ren) In Treating Migraine And Potentially Other Idiopathic Pain Conditions, Marius Birlea, Christopher L. Robinson, Eden Mama, Alit Stark-Inbar, Alon Ironi, Daniel Atashsokhan, Thomas Berk Nov 2025

The Mechanism Of Action Of Remote Electrical Neuromodulation (Ren) In Treating Migraine And Potentially Other Idiopathic Pain Conditions, Marius Birlea, Christopher L. Robinson, Eden Mama, Alit Stark-Inbar, Alon Ironi, Daniel Atashsokhan, Thomas Berk

College of Nursing Faculty Papers & Presentations

Purpose of Review

This review provides evidence for the mechanism of action (MOA) of Remote Electrical Neuromodulation (REN), a non-pharmacological therapeutic technology for treating migraine and other symptoms manifested by certain idiopathic pain diseases. It discusses the main physiological and anatomical aspects associated with conditioned pain modulation (CPM), and how REN is applied for the treatment of migraine pain and other symptoms.

Recent Findings

The REN wearable device (Nerivio®) is FDA cleared for acute and preventive treatment of migraine in patients aged 8 years and above, and CE marked in patients aged 12 and above. In brief, the REN MOA …


An Art Of Port Wine Birthmark - A Case Report On Type Ii Sturge Weber Syndrome, Dr Sushmitha S, Dr Aravind Warrier S, Dr Dhivya Bharathi Nov 2025

An Art Of Port Wine Birthmark - A Case Report On Type Ii Sturge Weber Syndrome, Dr Sushmitha S, Dr Aravind Warrier S, Dr Dhivya Bharathi

Chulalongkorn Medical Journal

Sturge Weber Syndrome is a Phakomatoses group of neurocutaneous disorders. They manifest in the dermal, neural, ocular, and oral regions due to a mutation in the GNAQ gene. These lesions often are unilateral following the course of the trigeminal nerve.Here we present a case of 54-year-old woman with a history of glaucoma with a unilateral reddish-purple discoloration of the palate and a port-wine stain limited to the left side of her face. The clinical course of Sturge-Weber syndrome is quite complex and necessitates a multidisciplinary approach. In type 2 cases of Sturge-Weber syndrome, patients present with facial angiomas and glaucoma, …


Rare Case Of Recurrent Cystic Mediastinal Mass: Giant Pericardial Cyst, Melina Tanadi, Anggraini Dwi Sensusiati Phd Nov 2025

Rare Case Of Recurrent Cystic Mediastinal Mass: Giant Pericardial Cyst, Melina Tanadi, Anggraini Dwi Sensusiati Phd

Chulalongkorn Medical Journal

Pericardial cyst is unusual benign congenital malformations, with incidence of 1 person per 100.000. Although considered congenital lesion by incomplete fusion of embryogenesis, there are less frequent causes such as surgery, post trauma, and inflammatory process. Pericardial cyst can mimick malignant mediastinal tumor, cardiac chamber enlargement, bronchogenic cyst from Chest X-ray. Most of pericardial cyst are asymptomatic until they got bigger, such as dypsnea, sudden death, cardiac tamponade, rupture of the cyst. Radiology Imaging play important roles for rule out diagnostic therefore to prevent the complications. Computed tomography is modality of choice for pericardial cyst. We report a case of …


High Prevalence And Atypical Genotype Distribution Of Oral Human Papillomavirus In An East African Hiv Cohort: A Cross-Sectional Study, Ian G. Munabi, Adriane Kamulegeya, Dunstan Kalanzi, David P. Kateete, Fred Collins Semitala, Catherine-Lutalo Mwesigwa, Samuel Kalungi, Jennifer E. Cameron, Kimon Divaris, William Buwembo Nov 2025

High Prevalence And Atypical Genotype Distribution Of Oral Human Papillomavirus In An East African Hiv Cohort: A Cross-Sectional Study, Ian G. Munabi, Adriane Kamulegeya, Dunstan Kalanzi, David P. Kateete, Fred Collins Semitala, Catherine-Lutalo Mwesigwa, Samuel Kalungi, Jennifer E. Cameron, Kimon Divaris, William Buwembo

School of Medicine Faculty Publications

BACKGROUND: Globally, Human Papillomavirus type 16 (HPV-16) is the predominant genotype associated with oropharyngeal cancers. However, little is known about the prevalence and type distribution of Oral Human Papillomavirus (OHPV) in people living with HIV (PLWHIV) in the East African region. The objective of this study was to document the prevalence and circulating genotypes of OHPV infection in a large cohort of PLWHIV attending an urban HIV clinic in Eastern Africa METHODS: This was a cross-sectional study among 1,715 participants of the Makerere University Joint AIDS Program clinic, located in Kampala, Uganda, in East Africa. A salivary sample was collected …


Dietary Fiber Modulates Gut Microbiota And Lipid Metabolism Ameliorating Alzheimer's Pathology In 5xfad Mice, Yuhai Zhao, Christopher M. Taylor, Walter J. Lukiw, Nicolas G. Bazan Nov 2025

Dietary Fiber Modulates Gut Microbiota And Lipid Metabolism Ameliorating Alzheimer's Pathology In 5xfad Mice, Yuhai Zhao, Christopher M. Taylor, Walter J. Lukiw, Nicolas G. Bazan

School of Graduate Studies Faculty Publications

The gut-brain axis plays a critical role in maintaining neuronal integrity and influencing the progression of Alzheimer's disease (AD). Here, we investigated how commonly consumed dietary fibers modulate gut microbiota, lipid metabolism, and AD pathology in 5xFAD mice. Male mice were fed either fiber-free (FF) or fiber-plus (FP; 1% cellulose, 2% pectin, 2% inulin) diets for five months, followed by integrated analyses of gut microbiota (16 S rRNA sequencing), fecal lipid metabolites (LC-MS/MS), and neuropathological and behavioral outcomes. FP diets markedly altered microbial composition, characterized by increases in Muribaculaceae, Ileibacterium, and Lachnospiraceae NK4A136 group and reductions in Faecalibaculum and Coriobacteriaceae …


Single-Cell Transcriptomic Analysis Of Peripheral Blood Mononuclear Cells Reveals Key Immune Responses In St-Segment Elevation Myocardial Infarction, Zheng Zhang, Shengfang Wang, Yahui Liu, Gaohan Li, Qianqian Cheng, Wei Yang, Gan-Xin Yan, Chuanyu Gao Nov 2025

Single-Cell Transcriptomic Analysis Of Peripheral Blood Mononuclear Cells Reveals Key Immune Responses In St-Segment Elevation Myocardial Infarction, Zheng Zhang, Shengfang Wang, Yahui Liu, Gaohan Li, Qianqian Cheng, Wei Yang, Gan-Xin Yan, Chuanyu Gao

Department of Medicine Faculty Papers

BACKGROUND: Inflammation plays a crucial role in the pathogenesis of ST-segment elevation myocardial infarction (STEMI). However, the precise immunological mechanisms remain incompletely understood. Single-cell RNA sequencing (scRNA-seq) provides a powerful approach to dissect immune cell heterogeneity and dynamic changes at single-cell resolution.

METHODS: Peripheral blood mononuclear cells (PBMCs) were collected from 7 STEMI patients (within 6h after primary percutaneous coronary intervention) and 3 healthy controls. Single-cell suspensions were prepared and subjected to scRNA-seq using the 10x Genomics Chromium platform and Illumina NovaSeq 6000. Data were processed using Cell Ranger and analyzed with Seurat for quality control, clustering, and annotation. Differentially …


Bilateral Endogenous Fungal Endophthalmitis Following Elective Surgical Abortion: A Single Center Case Series, Viet Q. Chau, Jesse D. Sengillo, Flavius A. Beca, Julia L. Hudson, Thomas A. Albini, Harry W. Flynn Nov 2025

Bilateral Endogenous Fungal Endophthalmitis Following Elective Surgical Abortion: A Single Center Case Series, Viet Q. Chau, Jesse D. Sengillo, Flavius A. Beca, Julia L. Hudson, Thomas A. Albini, Harry W. Flynn

Wills Eye Hospital Papers

BACKGROUND: To describe the clinical features and management of three cases of bilateral endogenous fungal endophthalmitis following elective surgical abortion performed at the same outpatient surgical center.

METHODS: Case series.

OBSERVATIONS: Three immunocompetent women presented with vision loss days to weeks following elective surgical abortions performed at a single outpatient clinic. Initial visual acuities ranged from 20/20 to 20/300. Fundoscopic examination revealed multiple white round chorioretinal lesions with vitreous infiltration bilaterally in all three patients. Vitreous tap samples were obtained for culture and broad-spectrum intravitreal antimicrobials were administered. Despite negative cultures and systemic workup, the clinical presentation was consistent with …