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The Prevalence And The Predictors Of Diabetes Distress In Patients With Type 2 Diabetes Attending Diabetes Clinics At A Tertiary Private Hospital In Nairobi, Kenya., Soulthy Azamkhan Mohamed Mar 2025

The Prevalence And The Predictors Of Diabetes Distress In Patients With Type 2 Diabetes Attending Diabetes Clinics At A Tertiary Private Hospital In Nairobi, Kenya., Soulthy Azamkhan Mohamed

Master of Medicine in Family Medicine

Background Diabetes distress encompasses a spectrum of emotional and psychological challenges faced by individuals managing diabetes, including anxiety, stress, depression, frustration, and feelings of helplessness. This distress arises from the constant demands of monitoring blood sugar levels, managing medications, adhering to dietary restrictions, engaging in regular physical activity, and navigating potential complications. Social and emotional factors such as stigma, discrimination, and concerns about future health further contribute to this burden. Factors like fear of hypoglycemia, financial strain, fluctuating blood sugar levels, anxiety about complications, and impacts on personal relationships exacerbate diabetes distress. Left unaddressed, diabetes distress can lead to poor …


Comparison Of The Use Of Therapeutic Plasma Exchange To Intravenous Immunoglobulin For Autoimmune Neurological Conditions At A Tertiary Hospital In Kenya., Swafiya Salim Busaidy Mar 2025

Comparison Of The Use Of Therapeutic Plasma Exchange To Intravenous Immunoglobulin For Autoimmune Neurological Conditions At A Tertiary Hospital In Kenya., Swafiya Salim Busaidy

Master of Medicine in Internal Medicine

Background 

Plasma exchange (Barth et al.) and Intravenous Immunoglobulin (Barth et al.) have emerged as favored therapeutic options for autoimmune neurological conditions. Neurological conditions cause high morbidity and mortality in the sub-Saharan region. The utilization of these treatment options in Sub-Saharan Africa remains relatively unknown. We can determine the most efficient treatments with minimal cost implications by comparing the two treatment modalities in our setup.

Methods 

This retrospective descriptive chart review took place at Aga Khan University Hospital. It encompassed all patients admitted between 1st January 2011 and 31st December 2023 who had a neurological condition that necessitated treatment with …


Diagnostic Accuracy Of 18f-Fdg Pet-Ct Compared To Ultrasound In Identification Of Metastatic Axillary Lymph Nodes In Newly Diagnosed Breast Cancer Patients., Sarah Muthii Kibe Mar 2025

Diagnostic Accuracy Of 18f-Fdg Pet-Ct Compared To Ultrasound In Identification Of Metastatic Axillary Lymph Nodes In Newly Diagnosed Breast Cancer Patients., Sarah Muthii Kibe

Master of Medicine in Imaging and Diagnostic Radiology

Background: Determination of axillary lymph node metastasis is a crucial part of breast cancer staging as it is the most important marker of overall recurrence and survival. Although axillary ultrasound (AUS) is the imaging reference standard, it has a wide range of sensitivity necessitating evaluation of other imaging modalities that may be used as adjuncts.18F-FDG PET-CT is recommended for use in metastatic and recurrent breast cancer with infrequent use in early disease due to its low spatial resolution for small axillary lymph nodes. The aim of this it study is to evaluate the diagnostic accuracy of axillary ultrasound compared …


Dementia In A Resource-Constrained Sub-Saharan African Setting: A Comprehensive Retrospective Analysis Of Prevalence, Risk Factors, And Management At The Only Neuropsychiatric Facility In Northeastern Nigeria, Ibrahim Abdu Wakawa, Umar Baba Musami, Suleiman Hamidu Kwairanga, Placidus Nwankuba Ogualili, Mohammed Yusuf Mahmood, Muhammad Abba Fugu, Mohammed Mala Gimba, Muktar Mohammed Allamin, Zaharadeen Umar Abbas, Chinedu Momoh Mar 2025

Dementia In A Resource-Constrained Sub-Saharan African Setting: A Comprehensive Retrospective Analysis Of Prevalence, Risk Factors, And Management At The Only Neuropsychiatric Facility In Northeastern Nigeria, Ibrahim Abdu Wakawa, Umar Baba Musami, Suleiman Hamidu Kwairanga, Placidus Nwankuba Ogualili, Mohammed Yusuf Mahmood, Muhammad Abba Fugu, Mohammed Mala Gimba, Muktar Mohammed Allamin, Zaharadeen Umar Abbas, Chinedu Momoh

Brain and Mind Institute

INTRODUCTION: Dementia prevalence is increasing in sub-Saharan Africa, poten-tially due to population growth and aging. Resource-constrained settings such asNortheastern Nigeria face challenges in dementia management.

METHODS: We assessed dementia burden and management at the Federal Neuropsy-chiatric Hospital Maiduguri, the only neuropsychiatric facility in Northeastern Nigeria.This retrospective analysis included patient records from 1999 to 2023 for individuals60 year of age and older with a dementia diagnosis.

RESULTS: Of the 1216 cases reported, Alzheimer’s disease (60.5%) was the mostcommon subtype, followed by vascular dementia (24.5%). Hypertension (41.6%) wasthe most frequent comorbidity. Memory loss was present in all cases, whereasbehavioral …


Substance Use Among Healthcare Professionals: A Cross-Sectional Study In Kenya, Jasmit Shah, Cynthia Smith, Cyprian Mostert, Linda Khakali, Zul Merali, Sayed Karar Mar 2025

Substance Use Among Healthcare Professionals: A Cross-Sectional Study In Kenya, Jasmit Shah, Cynthia Smith, Cyprian Mostert, Linda Khakali, Zul Merali, Sayed Karar

Brain and Mind Institute

Substance use among healthcare professionals, including alcohol, tobacco, marijuana, benzodiazepines etc., is a rising concern. The immensity of substance use is not yet clear, though recently, studies conducted on medical students and physician trainees show that 10% to 15% of all healthcare professionals misuse drugs at some point in their career, and that 6% to 8% of physicians have a substance use disorder. Substance use has a direct impact on relationships, physical health, and job performance, and is associated with depression, burnout, and decreased career satisfaction. The aim of this study was to shed light on the prevalence of substance …


Artificial Intelligence In Surgical Coding: Evaluating Large Language Models For Current Procedural Terminology Accuracy In Hand Surgery, Emily Isch, Jamie Lee, D. Mitchell Self, Abhijeet Sambangi, Theodore E. Habarth-Morales, John R. Vaile, E. J. Caterson Mar 2025

Artificial Intelligence In Surgical Coding: Evaluating Large Language Models For Current Procedural Terminology Accuracy In Hand Surgery, Emily Isch, Jamie Lee, D. Mitchell Self, Abhijeet Sambangi, Theodore E. Habarth-Morales, John R. Vaile, E. J. Caterson

Department of Surgery Faculty Papers

PURPOSE: The advent of large language models (LLMs) like ChatGPT has introduced notable advancements in various surgical disciplines. These developments have led to an increased interest in the use of LLMs for Current Procedural Terminology (CPT) coding in surgery. With CPT coding being a complex and time-consuming process, often exacerbated by the scarcity of professional coders, there is a pressing need for innovative solutions to enhance coding efficiency and accuracy.

METHODS: This observational study evaluated the effectiveness of five publicly available large language models-Perplexity.AI, Bard, BingAI, ChatGPT 3.5, and ChatGPT 4.0-in accurately identifying CPT codes for hand surgery procedures. A …


Rates Of Minimally Invasive Surgery After Introduction Of Robotic-Assisted Surgery For Common General Surgery Operations, Zhi Ven Fong, Elizabeth Wall-Wieler, Shaneeta Johnson, Richard Culbertson, Brian Mitzman Mar 2025

Rates Of Minimally Invasive Surgery After Introduction Of Robotic-Assisted Surgery For Common General Surgery Operations, Zhi Ven Fong, Elizabeth Wall-Wieler, Shaneeta Johnson, Richard Culbertson, Brian Mitzman

School of Public Health Faculty Publications

Importance: Many patients who would benefit from minimally invasive surgery (MIS) have open surgery; robotic-assisted surgery (RAS) addresses some of the limitations of laparoscopic surgery and could increase rates of MIS across different patient populations. Objective: To determine whether the introduction of RAS increases MIS rates and whether increases are seen across different patient populations undergoing common general surgery procedures. Design: A retrospective cohort study was performed to compare rates of MIS in the year before and after the index date for hospitals that did and did not introduce RAS. Generalized estimating equation regression models were used to compare rates …


Representation And Outcomes Of Catheter Ablation For Treatment Of Atrial Fibrillation Among Patients With Obesity: A Systematic Review Of Randomized Control Trials, Danielle Dircks, Eh M. Khaing, James Aguto, Jmaylia Mimms, William Schleifer, Jason Payne, Arthur Easley, Faris Khan Md, John Windle, Shane Tsai, Daniel Anderson Md, Gleb Haynatzki, Niyada Naksuk Mar 2025

Representation And Outcomes Of Catheter Ablation For Treatment Of Atrial Fibrillation Among Patients With Obesity: A Systematic Review Of Randomized Control Trials, Danielle Dircks, Eh M. Khaing, James Aguto, Jmaylia Mimms, William Schleifer, Jason Payne, Arthur Easley, Faris Khan Md, John Windle, Shane Tsai, Daniel Anderson Md, Gleb Haynatzki, Niyada Naksuk

EMET Projects

Background: The prevalence and impact of obesity on outcomes of atrial fibrillation (AF) ablation randomized controlled trials (RCTs) have not been well studied.

Objective: To examine the proportion of participants with obesity enrolled in RCTs of AF ablation and outcomes of ablation when subgroup analysis of participants with obesity were available.

Methods: We systematically searched PubMed and EMBASE for AF ablation RCTs published between January 1, 2015 to May 31, 2022. When body mass index (BMI) data were available, normal distribution was assumed and a z score was used to estimate the proportion of obesity. Results categorized by BMI or …


County-Level Association Between Modifiable Health Behaviors And Premature Mortality In The United States, Abdul Mannan Khan Minhas, Kashvi Gupta, Erin D Michos, Andrew J Sauer, Laurence Sperling, Vijay Nambi, Layla Abushamat, Christie M Ballantyne, Dmitry Abramov Mar 2025

County-Level Association Between Modifiable Health Behaviors And Premature Mortality In The United States, Abdul Mannan Khan Minhas, Kashvi Gupta, Erin D Michos, Andrew J Sauer, Laurence Sperling, Vijay Nambi, Layla Abushamat, Christie M Ballantyne, Dmitry Abramov

Faculty, Staff and Students Publications

Objective: Unhealthy lifestyle habits are associated with increased morbidity and mortality. This study aims to examine the county-level association of physical inactivity, insufficient sleep, and current smoking, three elements of the American Heart Association's Life's Essential 8, with premature mortality.

Methods: Premature country-level age-adjusted death rate (AADR) in 2018-2020 were obtained from National Center for Health Statistics Mortality Files. County-level data were included from County Health Rankings data set for 2022. Counties were divided into deciles based on the percentage of adults with physical inactivity, insufficient sleep, and current smoking (separate decile for each metric) from Behavioral Risk Factor Surveillance …


Self-Collection For Primary Hpv Testing: Acceptability In A Large Urban Emergency Department, Itunu O Sokale, Dick C Kuo, Claire M Hoppenot, Lorraine R Reitzel, Luis H Juarez, Katherine J Hernandez, Susan L Parker, Chris Amos, Maria Daheri, Kelly R Keene, Jane R Montealegre, Aaron P Thrift Mar 2025

Self-Collection For Primary Hpv Testing: Acceptability In A Large Urban Emergency Department, Itunu O Sokale, Dick C Kuo, Claire M Hoppenot, Lorraine R Reitzel, Luis H Juarez, Katherine J Hernandez, Susan L Parker, Chris Amos, Maria Daheri, Kelly R Keene, Jane R Montealegre, Aaron P Thrift

Faculty, Staff and Students Publications

Study objective: Overdue cervical cancer screening increases the risk of invasive cervical cancer. It is important to identify settings where self-collection for primary human papillomavirus (HPV) testing can be implemented to have high effect on cervical cancer screening among hard-to-reach women with overdue screening. Herein, we examined the acceptability of HPV self-collection, including completion rates, attitudes, and experiences among women seeking noncritical care at a high-volume urban safety-net hospital emergency department (ED) in Houston, Texas, United States.

Methods: In this single-arm intervention pilot study, we recruited women overdue for cervical cancer screening in the waiting areas of a safety-net hospital …


Advances In Idiopathic Pulmonary Fibrosis Diagnosis And Treatment, Hongli Liu, Jiaxi Shen, Chao He Mar 2025

Advances In Idiopathic Pulmonary Fibrosis Diagnosis And Treatment, Hongli Liu, Jiaxi Shen, Chao He

Faculty, Staff and Students Publications

Significant advances have been made in diagnosing and treating idiopathic pulmonary fibrosis (IPF) in the last decade. The incidence and prevalence of IPF are increasing, and morbidity and mortality remain high despite the two Food and Drug Administration (FDA)-approved medications, pirfenidone and nintedanib. Hence, there is an urgent need to develop new diagnostic tools and effective therapeutics to improve early, accurate diagnosis of IPF and halt or reverse the progression of fibrosis with a better safety profile. New diagnostic tools such as transbronchial cryobiopsy and genomic classifier require less tissue and generally have good safety profiles, and they have been …


Ethnoracial Disparities In Gray Matter Atrophy Are Mediated By Structural Disconnectivity In Multiple Sclerosis, Ahmed Bayoumi, Joseph A Thomas, Breanna R Alonzo, Juan Jimenez, Christopher M Orlando, Carlos A Pérez, Khader M Hasan, Jerry S Wolinsky, John A Lincoln Mar 2025

Ethnoracial Disparities In Gray Matter Atrophy Are Mediated By Structural Disconnectivity In Multiple Sclerosis, Ahmed Bayoumi, Joseph A Thomas, Breanna R Alonzo, Juan Jimenez, Christopher M Orlando, Carlos A Pérez, Khader M Hasan, Jerry S Wolinsky, John A Lincoln

Faculty, Staff and Student Publications

Objective: To investigate ethnoracial disparities in gray matter (GM) atrophy, the contribution of white matter lesions and consequent structural disconnectivity among patients with multiple sclerosis (MS).

Methods: This retrospective study included 297 patients with MS (pwMS), 98 Hispanic/Latinx (H-MS), 82 non-Hispanic Black (B-MS), and 117 non-Hispanic White (W-MS). GM atrophy was assessed using univariate, voxel-based morphometry, and multivariate techniques, source-based morphometry. Structural disconnectivity secondary to white matter lesions was evaluated using the network modification tool. Mediation analyses explored relationships between ethnoracial groups, white matter lesions, structural disconnectivity, and gray matter atrophy.

Results: B-MS and H-MS generally exhibited greater gray matter …


Infantile Myofibromatosis: Small Bumps Pose Big Problems, Hillary C Lee, Amee A Amin, Kudakwashe R Chikwava, Valeria R Smith, Caraciolo J Fernandes Mar 2025

Infantile Myofibromatosis: Small Bumps Pose Big Problems, Hillary C Lee, Amee A Amin, Kudakwashe R Chikwava, Valeria R Smith, Caraciolo J Fernandes

Faculty, Staff and Students Publications

Background

Infantile myofibromatosis (IM) is a disorder characterized by proliferation of benign myofibroblastic tumors that typically manifest as solitary or multiple nodules in the skin, muscle, bone, subcutaneous tissues, and visceral organs and can pose significant morbidity and mortality risks, particularly in cases involving visceral organs or causing functional impairment. These soft tissue lesions are the most prevalent benign fibrous tumors that present before age two and can undergo spontaneous regression or are amenable to surgical resection.

Case

A preterm, male infant was born via Caesarean section to a mother with a trichorionic, triamniotic pregnancy following preterm labor. Within the …


Evaluating Dysphagia Duration And Severity After Acdf In Patients With Underlying Dysphagia - A Prospective, Multicenter Study, Aditya Mazmudar, Taylor Paziuk, Khoa Tran, Tyler Henry, Samuel Oh, Caroline Purtill, Daniel Habbal, Goutham Yalla, Quinlin Harrill, Brandon Sherrod, Erica Bisson, Darrel Brodke, Christopher Kepler, Gregory Schroeder, Alex Vaccaro, Alan Hilibrand, Jeffrey Rihn Mar 2025

Evaluating Dysphagia Duration And Severity After Acdf In Patients With Underlying Dysphagia - A Prospective, Multicenter Study, Aditya Mazmudar, Taylor Paziuk, Khoa Tran, Tyler Henry, Samuel Oh, Caroline Purtill, Daniel Habbal, Goutham Yalla, Quinlin Harrill, Brandon Sherrod, Erica Bisson, Darrel Brodke, Christopher Kepler, Gregory Schroeder, Alex Vaccaro, Alan Hilibrand, Jeffrey Rihn

Department of Orthopaedic Surgery Faculty Papers

STUDY DESIGN: Prospective Cohort Study.

OBJECTIVES: The purpose of this study was to prospectively evaluate the impact of preoperative dysphagia on the postoperative incidence and severity of dysphagia in patients undergoing ACDF at multiple institutions.

METHODS: After IRB approval, patients over 18 years of age who underwent an elective ACDF for degenerative conditions were prospectively enrolled at two academic centers from 2018 to 2021. Preoperative dysphagia was self-reported by patients through a pre-operative questionnaire on a binary basis. Patients completed dysphagia surveys (Bazaz, Dysphagia Short Questionnaire, 10-item Eating Assessment Tool) to assess dysphagia severity during their preoperative visit, and these …


Early Diet Liberalization After Anterior Lumbar Interbody Fusion Improves Postoperative Recovery, Tiffany Bridges, Matthew Meade, Parker L. Brush, Yunsoo Lee, Rajkishen Narayanan, Michael A. Mccurdy, Mark J. Lambrechts, Alex Charlton, Eleanor Jenkins, Robert Juniewicz, Henson Destine, I. David Kaye, Mark Kurd, Jose A. Canseco, Alan S. Hilibrand, Alex R. Vaccaro, Gregory D. Schroeder, Christopher K. Kepler Mar 2025

Early Diet Liberalization After Anterior Lumbar Interbody Fusion Improves Postoperative Recovery, Tiffany Bridges, Matthew Meade, Parker L. Brush, Yunsoo Lee, Rajkishen Narayanan, Michael A. Mccurdy, Mark J. Lambrechts, Alex Charlton, Eleanor Jenkins, Robert Juniewicz, Henson Destine, I. David Kaye, Mark Kurd, Jose A. Canseco, Alan S. Hilibrand, Alex R. Vaccaro, Gregory D. Schroeder, Christopher K. Kepler

Department of Orthopaedic Surgery Faculty Papers

STUDY DESIGN: Retrospective Cohort Study.

OBJECTIVES: The objective of this study was to assess the impact of diet liberalization on short-term outcomes in patients undergoing anterior interbody lumbar fusion (ALIF).

METHODS: A retrospective review was performed for patients undergoing ALIF at our tertiary care center institution from 2010 to 2022. Electronic medical records were reviewed for demographics, surgical characteristics, and 90-day postoperative outcomes.

RESULTS: We included 515 patients in this study with 102 patients receiving a full diet on the same day as their operation. All other patients had a delay of at least 1 day (average 1.6 days) until …


An Update In Complication Rates Associated With Anterior Lumbar Surgery: A Systematic Review And Meta-Analysis, Tariq Z Issa, Teeto Ezeonu, Mason Sellig, Chester J Donnally, Rajkishen Narayanan, Brian A Karamian, Parthik D Patel, Srikanth N Divi, William A Robinson, Kartik Shenoy, Christopher K Kepler, Alexander R Vaccaro, Jose A Canseco Mar 2025

An Update In Complication Rates Associated With Anterior Lumbar Surgery: A Systematic Review And Meta-Analysis, Tariq Z Issa, Teeto Ezeonu, Mason Sellig, Chester J Donnally, Rajkishen Narayanan, Brian A Karamian, Parthik D Patel, Srikanth N Divi, William A Robinson, Kartik Shenoy, Christopher K Kepler, Alexander R Vaccaro, Jose A Canseco

Department of Orthopaedic Surgery Faculty Papers

STUDY DESIGN: Systematic Review and meta-analysis.

OBJECTIVE: To conduct an updated systematic review and meta-analysis of complications associated with different anterior fusion techniques/approaches and adjuvant resources (i.e., computed tomography angiography (CTA), rhBMP-2, and access surgeons).

METHODS: A systematic review was conducted from 1/1/2014-4/1/2024 for studies evaluating the incidence of complications associated with anterior lumbar procedures. Comparisons of complications were made between surgical approach, use of CTA, rhBMP-2, and access surgeons. Meta-analyses were conducted using a generalized linear mixed model.

RESULTS: 54 studies were included in the final analysis with 8066 patients and an average follow-up of 31.2 months. The overall …


Comprehensive Normalization And Binary Classification Methods For Enhanced Sensitivity And Reproducibility In Luminex Assay Quantitation, B A Burns, C A Shaw, M Chandra, C S Forconi, A M Moormann, V Konduri, V N Tubman, W K Decker Mar 2025

Comprehensive Normalization And Binary Classification Methods For Enhanced Sensitivity And Reproducibility In Luminex Assay Quantitation, B A Burns, C A Shaw, M Chandra, C S Forconi, A M Moormann, V Konduri, V N Tubman, W K Decker

Faculty, Staff and Students Publications

The Luminex assay is a powerful tool for large-scale quantitation of antibody levels and cytokines, but its utility can be limited by issues of specificity, sensitivity, and reproducibility. The corrections for background fluorescence and machine drift are essential steps in the normalization process. However, traditional methods often oversimplify these steps, failing to account for the complexity of the data, leading to the introduction of error and decreasing the sensitivity and reproducibility of the analysis. Furthermore, conventional methods to determine cut-points in binary measures do not consider the true distribution of the data, leading to arbitrary cut-points that compromise the integrity …


Genomic Balancing Act: Deciphering Dna Rearrangements In The Complex Chromosomal Aberration Involving 5p152, 2q311, And 18q2132, Zain Dardas, Dana Marafi, Ruizhi Duan, Jawid M Fatih, Omnia F El-Rashidy, Christopher M Grochowski, Claudia M B Carvalho, Shalini N Jhangiani, Weimin Bi, Haowei Du, Richard A Gibbs, Jennifer E Posey, Daniel G Calame, Maha S Zaki, James R Lupski Mar 2025

Genomic Balancing Act: Deciphering Dna Rearrangements In The Complex Chromosomal Aberration Involving 5p152, 2q311, And 18q2132, Zain Dardas, Dana Marafi, Ruizhi Duan, Jawid M Fatih, Omnia F El-Rashidy, Christopher M Grochowski, Claudia M B Carvalho, Shalini N Jhangiani, Weimin Bi, Haowei Du, Richard A Gibbs, Jennifer E Posey, Daniel G Calame, Maha S Zaki, James R Lupski

Faculty, Staff and Students Publications

Despite extensive research into the genetic underpinnings of neurodevelopmental disorders (NDD), many clinical cases remain unresolved. We studied a female proband with a NDD, mildly dysmorphic facial features, and brain stem hypoplasia on neuroimaging. Comprehensive genomic analyses revealed a terminal 5p loss and a terminal 18q gain in the proband while a diploid copy number for chromosomes 5 and 18 in both parents. Genomic investigations in the proband identified an unbalanced translocation t(5;18) with additional genetic material from chromosome 2 (2q31.3) inserted at the breakpoint, pointing to a complex chromosomal rearrangement (CCR) involving 5p15.2, 2q31.3, and 18q21.32. Breakpoint junction analyses …


Predicting The Impact Of Rare Variants On Rna Splicing In Cagi6, Jenny Lord, Carolina Jaramillo Oquendo, Htoo A Wai, Andrew G L Douglas, David J Bunyan, Yaqiong Wang, Zhiqiang Hu, Zishuo Zeng, Daniel Danis, Panagiotis Katsonis, Amanda Williams, Olivier Lichtarge, Yuchen Chang, Richard D Bagnall, Stephen M Mount, Brynja Matthiasardottir, Chiaofeng Lin, Thomas Van Overeem Hansen, Raphael Leman, Alexandra Martins, Claude Houdayer, Sophie Krieger, Constantina Bakolitsa, Yisu Peng, Akash Kamandula, Predrag Radivojac, Diana Baralle Mar 2025

Predicting The Impact Of Rare Variants On Rna Splicing In Cagi6, Jenny Lord, Carolina Jaramillo Oquendo, Htoo A Wai, Andrew G L Douglas, David J Bunyan, Yaqiong Wang, Zhiqiang Hu, Zishuo Zeng, Daniel Danis, Panagiotis Katsonis, Amanda Williams, Olivier Lichtarge, Yuchen Chang, Richard D Bagnall, Stephen M Mount, Brynja Matthiasardottir, Chiaofeng Lin, Thomas Van Overeem Hansen, Raphael Leman, Alexandra Martins, Claude Houdayer, Sophie Krieger, Constantina Bakolitsa, Yisu Peng, Akash Kamandula, Predrag Radivojac, Diana Baralle

Faculty, Staff and Students Publications

Variants which disrupt splicing are a frequent cause of rare disease that have been under-ascertained clinically. Accurate and efficient methods to predict a variant's impact on splicing are needed to interpret the growing number of variants of unknown significance (VUS) identified by exome and genome sequencing. Here, we present the results of the CAGI6 Splicing VUS challenge, which invited predictions of the splicing impact of 56 variants ascertained clinically and functionally validated to determine splicing impact. The performance of 12 prediction methods, along with SpliceAI and CADD, was compared on the 56 functionally validated variants. The maximum accuracy achieved was …


Discrete Placental Gene Expression Signatures Accompany Diabetic Disease Classifications During Pregnancy, Enrico R Barrozo, Diana A Racusin, Michael D Jochum, Brandon T Garcia, Melissa A Suter, Melanie Delbeccaro, Cynthia Shope, Kathleen Antony, Kjersti M Aagaard Mar 2025

Discrete Placental Gene Expression Signatures Accompany Diabetic Disease Classifications During Pregnancy, Enrico R Barrozo, Diana A Racusin, Michael D Jochum, Brandon T Garcia, Melissa A Suter, Melanie Delbeccaro, Cynthia Shope, Kathleen Antony, Kjersti M Aagaard

Faculty, Staff and Students Publications

Background: Gestational diabetes mellitus affects up to 10% of pregnancies and is classified into subtypes gestational diabetes subtype A1 (GDMA1) (managed by lifestyle modifications) and gestational diabetes subtype A2 (GDMA2) (requiring medication). However, whether these subtypes are distinct clinical entities or more reflective of an extended spectrum of normal pregnancy endocrine physiology remains unclear.

Objective: Integrated bulk RNA-sequencing (RNA-seq), single-cell RNA-sequencing (scRNA-seq), and spatial transcriptomics harbors the potential to reveal disease gene signatures in subsets of cells and tissue microenvironments. We aimed to combine these high-resolution technologies with rigorous classification of diabetes subtypes in pregnancy. We hypothesized that differences between …


A Study Of Secondary Traumatic Stress In Health Care Professionals In Long-Term Care., Bethany Proudfoot Mar 2025

A Study Of Secondary Traumatic Stress In Health Care Professionals In Long-Term Care., Bethany Proudfoot

Doctor of Social Work Capstone Projects

Secondary traumatic stress (STS) is a significant concern for healthcare professionals in long-term care (LTC) settings. This study explores the impact of STS on clinical staff, addressing the research question: How has STS affected employees within the LTC sector, and what resources or support can be provided to mitigate its effects? The study utilized a mixed-methods approach, combining survey data from clinical staff across five LTC facilities in Ohio, incorporating the survey data measuring levels of STS and qualitative responses. Findings revealed that 64% of participants experienced high to severe levels of STS, with symptoms including anxiety, depression, sleep disturbances, …


Insulin Receptor Responsiveness Governs Tgfβ-Induced Hepatic Stellate Cell Activation: Insulin Resistance Instigates Liver Fibrosis, Wang-Hsin Lee, Evelyn A. Bates, Zachary A. Kipp, Sally Pauss, Genesee J. Martinez, Cheavar A. Blair, Terry D. Hinds Jr. Mar 2025

Insulin Receptor Responsiveness Governs Tgfβ-Induced Hepatic Stellate Cell Activation: Insulin Resistance Instigates Liver Fibrosis, Wang-Hsin Lee, Evelyn A. Bates, Zachary A. Kipp, Sally Pauss, Genesee J. Martinez, Cheavar A. Blair, Terry D. Hinds Jr.

Markey Cancer Center Faculty Publications

The insulin receptor (INSR) has been shown to be hyperactive in hepatic stellate cells (HSCs) in humans and rodents with liver fibrosis. To explore HSC cellular mechanisms that INSR regulates during pro-fibrotic stimulation, we used CRISPR-Cas9 technology. We knocked out a portion of the INSR gene in human LX2 HSC cells (INSRe5- 8 KO) that regulates insulin responsiveness but not the insulin-like growth factor (IGF) or transforming growth factor-β (TGFβ) signaling. The INSRe5- 8 KO HSCs had significantly higher cell growth, BrdU incorporation, and lower TP53 expression that suppresses growth, and they also exhibited increased migration compared to the Scramble …


Lc-Ms Analysis Of Serum Lipidomic And Metabolomic Signatures In Pediatric Patients With Acute Lymphoblastic Leukemia, Feiyu Yan, Shengnan Wang, Yilin Wang, Yan Sun, Jing Yang, Lirong Sun, Yekaterina Y. Zaytseva, Pan Deng, Lingzhen Wang Mar 2025

Lc-Ms Analysis Of Serum Lipidomic And Metabolomic Signatures In Pediatric Patients With Acute Lymphoblastic Leukemia, Feiyu Yan, Shengnan Wang, Yilin Wang, Yan Sun, Jing Yang, Lirong Sun, Yekaterina Y. Zaytseva, Pan Deng, Lingzhen Wang

Markey Cancer Center Faculty Publications

Background Acute lymphoblastic leukemia (ALL) is a prevalent hematologic malignancy that primarily affects children. The diagnosis and treatment of pediatric ALL remain challenging. This study aimed to identify differential lipids and metabolites that may hold potential for improving ALL treatment.

Methods In this retrospective case-control study, serum samples obtained from children with ALL and healthy controls were analyzed. Serum lipidome and metabolome alterations of ALL were analyzed by comparing pediatric patients with ALL with healthy controls based on liquid chromatography high-resolution mass spectrometry analysis of serum lipidomic and metabolomic signatures.

Results We identified 2,298 lipid features in the serum. Among …


Exploring Oxylipins In Host–Microbe Interactions And Their Impact On Infection And Immunity, Robert J. Neff, Christopher D. Radka Mar 2025

Exploring Oxylipins In Host–Microbe Interactions And Their Impact On Infection And Immunity, Robert J. Neff, Christopher D. Radka

Markey Cancer Center Faculty Publications

Plasma lipids are essential components of biological systems, transported through interactions with proteins to maintain cellular functions. These lipids exist in various forms, such as fatty acids, glycerolipids, glycerophospholipids, sphingolipids, sterols, and prenol lipids, derived from dietary intake, adipose tissue, and biosynthesis. While the association between certain fatty acids and cardiovascular diseases has been widely recognized, polyunsaturated fatty acids (PUFAs) exhibit cardioprotective effects, reducing risks of arrhythmias and heart-related mortality. This is due to their role in the production of eicosanoids, which modulate inflammation. Chronic inflammation, particularly in obesity, is significantly influenced by fatty acids, with saturated fatty acids promoting …


Predicting The Pathway Involvement Of Compounds Annotated In The Reactome Knowledgebase, Erik D. Huckvale, Hunter N. B. Moseley Mar 2025

Predicting The Pathway Involvement Of Compounds Annotated In The Reactome Knowledgebase, Erik D. Huckvale, Hunter N. B. Moseley

Markey Cancer Center Faculty Publications

Background/Objectives: Pathway annotations of non-macromolecular (relatively small) biomolecules facilitate biological and biomedical interpretation of metabolomics datasets. However, low pathway annotation levels of detected biomolecules hinder this type of interpretation. Thus, predicting the pathway involvement of detected but unannotated biomolecules has a high potential to improve metabolomics data analysis and omics integration. Past publications have only made use of the Kyoto Encyclopedia of Genes and Genomes-derived datasets to develop machine learning models to predict pathway involvement. However, to our knowledge, the Reactome knowledgebase has not been utilized to develop these types of predictive models.

Methods: We created a dataset ready for …


Characterization, Performance, And Toxicological Assessment Of Polysulfone-Sulfonated Polyether Ether Ketone Membranes For Water Separation Applications, Muhammad Usman Yousaf, Lucca Madeo Cortarelli, Nerissa I. Jebet, Jason M. Unrine, Nirupam Aich, Olga V. Tsyusko, Isabel C. Escobar Mar 2025

Characterization, Performance, And Toxicological Assessment Of Polysulfone-Sulfonated Polyether Ether Ketone Membranes For Water Separation Applications, Muhammad Usman Yousaf, Lucca Madeo Cortarelli, Nerissa I. Jebet, Jason M. Unrine, Nirupam Aich, Olga V. Tsyusko, Isabel C. Escobar

Markey Cancer Center Faculty Publications

The removal of small molecular weight charged compounds from aqueous solutions using membrane remains a challenge. In this study, polysulfone (PSf)- and sulfonated polyether ether ketone (SPEEK)-based membranes were fabricated via non- solvent induced phase separation process (NIPS) using N-Methyl-2-Pyrrolidone (NMP) as solvent and water as non-solvent. Membranes were characterized structurally and morphologically, followed by toxicity assessment conducted before and after filtration, both with and without annealing at various pH values to evaluate potential leaching of trapped solvent from the membrane pores. Additionally, membrane performance was characterized using binary mixtures of cationic and anionic dyes. The results demonstrated selective filtration …


Computational Design And In Vitro And In Vivo Characterization Of An Apoe-Based Synthetic High-Density Lipoprotein For Sepsis Therapy, Ling Guo, Yaxia Yuan, Fang Zhang, Chang-Guo Zhan, Xiangan Li Mar 2025

Computational Design And In Vitro And In Vivo Characterization Of An Apoe-Based Synthetic High-Density Lipoprotein For Sepsis Therapy, Ling Guo, Yaxia Yuan, Fang Zhang, Chang-Guo Zhan, Xiangan Li

Markey Cancer Center Faculty Publications

Introduction: Septic patients have low levels of high-density lipoproteins (HDLs), which is a risk factor. Replenishing HDLs with synthetic HDLs (sHDLs) has shown promise as a therapy for sepsis. This study aimed to develop a computational approach to design and test new types of sHDLs for sepsis treatment. Methods: We used a three-step computational approach to design sHDL nanoparticles based on the structure of HDLs and their binding to endotoxins. We tested the efficacy of these sHDLs in two sepsis mouse models—cecal ligation and puncture (CLP)-induced and P. aeruginosa-induced sepsis models—and assessed their impact on inflammatory signaling in cells. Results: …


Artesunate Enhances The Efficacy Of Enzalutamide In Advanced Prostate Cancer, Xinyi Wang, Jinghui Liu, Fengyi Mao, Yifan Kong, Qiongsi Zhang, Chaohao Li, Daheng He, Chi Wang, Yanquan Zhang, Ruixin Wang, Sally R. Ellingson, Qiou Wei, Zhiguo Li, Xiaoqi Liu Mar 2025

Artesunate Enhances The Efficacy Of Enzalutamide In Advanced Prostate Cancer, Xinyi Wang, Jinghui Liu, Fengyi Mao, Yifan Kong, Qiongsi Zhang, Chaohao Li, Daheng He, Chi Wang, Yanquan Zhang, Ruixin Wang, Sally R. Ellingson, Qiou Wei, Zhiguo Li, Xiaoqi Liu

Markey Cancer Center Faculty Publications

Prostate cancer (PCa) is one of the leading causes of death among men worldwide. Treatments targeting the androgen receptor pathway remain the standard therapy for PCa patients. Enzalutamide (ENZ), a second-generation androgen receptor inhibitor, was developed to treat castration-resistant prostate cancer. However, while patients initially respond to ENZ, drug resistance typically develops within a few months. Artesunate (ART), a semisynthetic derivative of the Artemisinin plant, is approved for antimalaria treatment. In this study, we conducted an FDA-approved drug screening and identified ART as a potential candidate for overcoming ENZ resistance in PCa. Mechanistically, ART induces the degradation of c-Myc, enhancing …


Development Of Mobility Scales For Infants And Children On Ecmo, Johanna I. Orrick, Debra E. Newton, Caroline Holton Mar 2025

Development Of Mobility Scales For Infants And Children On Ecmo, Johanna I. Orrick, Debra E. Newton, Caroline Holton

Posters

Extracorporeal Membrane Oxygenation (ECMO) is a life-saving intervention commonly used in pediatric and neonatal intensive care; however, it presents unique challenges for maintaining patient mobility. Early mobility contributes to better long-term outcomes. Existing mobility scales by the Extracorporeal Life Support Organization (ELSO) are limited to patients aged 8 years and older, leaving a gap for younger populations. This study aimed to develop and validate mobility scales specifically for infants (< 2 years) and children aged 2-8 years undergoing ECMO therapy. Through a collaborative effort involving pediatric ECMO specialists, physicians, and critical care nurses, we adapted ELSO’s mobility criteria to be developmentally appropriate for these younger age groups. For infants, mobility benchmarks include passive and active limb movements, head control, and supported sitting. The criteria for children aged 2-8 is expanded to include sitting, supported standing, and age-appropriate gross motor activities. This scale provides graded levels of mobility that accommodate ECMO-specific safety considerations, allowing practitioners to chart interventions according to each child’s developmental and physiological capacity. The resulting scales are being pilot-tested at our large ECMO center, with data showing preliminary effectiveness at capturing the degree of mobility achieved during ECMO runs. This mobility scale fills a critical need by providing structured charting guidelines for mobilizing infants and young children on ECMO, promoting functional recovery and potential improvements in long-term developmental outcomes. Further studies are recommended to establish consistency across institutions and confirm the scale's impact on mobility outcomes in pediatric ECMO patients.


Status Epilepticus: Refractory Management, Children's Mercy Kansas City Mar 2025

Status Epilepticus: Refractory Management, Children's Mercy Kansas City

Clinical Pathways

No abstract provided.