Medical Specialties Commons^™

Development Of A Proposed Selective Medium For The Isolation And Differentiation Of P. Sordellii, Dimyana Bottros

Honors Undergraduate Theses

Clostridium, a genus of anaerobic, spore-forming bacteria, includes clinically and ecologically significant species like Clostridium difficile and Paeniclostridium sordellii. C. difficile causes antibiotic-associated colitis, while P. sordellii is linked to fatal infections and spontaneous abortions. Recent studies found both species in marine sediments, suggesting their role in environmental and wildlife health disturbances, including the 2013 mass mortality of over 300 manatees in the Indian River Lagoon. However, isolating and differentiating P. sordellii is challenging due to the lack of selective media optimized for its growth. This thesis proposes a novel selective medium tailored to P. sordellii’s physiological …

Extracellular Vesicles Released By All Patients Contain Hne-Adducted Proteins: Implications Of Collateral Damage, Jenni Ho, Suriyan Sukati, Tamara Taylor, Sherry Carter, Brittany Fuller, Amy Marmo, Caryn Sorge, John A. D'Orazio, D. Allan Butterfield, Subbarao Bondada, Heidi Weiss, Daret K. St. Clair, Luksana Chaiswing

Markey Cancer Center Faculty Publications

Off-target neuronal injury is a serious side-effect observed in cancer survivors. It has previously been shown that pediatric acute lymphoblastic leukemia (ALL) survivors have a decline in neurocognition compared to healthy age-matched counterparts. Elevated oxidative stress has been documented to be a mediator in off- target tissue damage in cancer survivors. Early detection of oxidative stress markers may provide an opportunity to prevent off-target tissue damage. Extracellular vesicles (EVs) have surfaced as a potential diagnostic tool due to molecular cargo they contain. We investigated the potential for EVs to be a sensitive indicator of oxidative stress and off-target tissue damage …

Study Of Maternal And Fetal Outcomes In Pregnancy Complicated By Thyroid Disorders, Sindhu Kumari, Poornima M

Digital Journal of Clinical Medicine

Background:

Thyroid disorders, particularly hypothyroidism, are common during pregnancy and can significantly impact both maternal and fetal outcomes. Despite advancements in screening and treatment, thyroid dysfunction in pregnancy often remains underdiagnosed, especially in low-resource settings. This study aimed to evaluate the prevalence, outcomes and effective management strategies of thyroid dysfunction during pregnancy.

Objectives: To evaluate the prevalence and outcomes of thyroid dysfunction, including both hypothyroidism and hyperthyroidism, during pregnancy, and their associated maternal and fetal complications.

Methods: This prospective observational study included 281 pregnant women with thyroid disorders attending antenatal care at JSS Hospital, Mysuru, from August 2022 …

Semaglutide And The Evolving Landscape Of Metabolic Dysfunction–Associated Steatotic Liver Disease, Rohan Karkra

Digital Journal of Clinical Medicine

The FDA approved Semaglutide (Wegovy™) on August 15, 2025, for adults with MASLD and moderate to advanced fibrosis (F2–F3), making it the second approved therapy after Resmetirom. MASLD affects up to 38% of adults and is now the leading cause of liver disease. In the phase 3 ESSENCE trial, Semaglutide achieved resolution of steatohepatitis without worsening fibrosis in 62.9% versus 34.3% with placebo, with additional benefits in weight loss and glycemic control. While long-term data remain pending and access barriers exist, this approval marks a significant advance in MASLD therapy with meaningful histologic and metabolic improvements.

New Genetic Tools To Define The Pathophysiology Of Inborn Errors Of Cobalamin Metabolism Impacting Mammalian Development, Tiffany Chern, Xuefei Tong, William G Bauer, David J Quispe-Parra, Xia Gao, Kamryn N Gerner-Mauro, Ross A Poché

Children’s Nutrition Research Center Staff Publications

The congenital, autosomal recessive disorder combined methylmalonic acidemia and homocystinuria - cblC type, is the most common inborn error of cobalamin (vitamin B12) metabolism. In its early onset form, cblC profoundly impacts fetal development of the central nervous system, hematopoietic system, and other tissues. Previously, mutations in the MMACHC gene, which encodes a protein required for the intracellular trafficking and enzymatic processing of free cobalamin into active coenzyme forms, were found to cause cblC. These coenzymes are required in two metabolic pathways which produce either succinyl-CoA in the mitochondria or methionine in the cytosol. However, due to a lack of …

The Differential Expands: Ataxia From Paraneoplastic Cerebellar Degeneration, Dominic Thomas, Md, Amy Dechet

Books, Presentations, Posters, Etc.

Introduction: Paraneoplastic cerebellar degeneration is a rare cause of cerebellar ataxia with a poor prognosis for neurologic recovery. The management of symptoms is dependent primarily upon timely diag nosis and treatment of the underlying neoplasm. Herein, we present the diagnostic and treatment course of a patient with paraneoplastic cerebellar degeneration. Case: A 72-year-old woman with a past medical history of left mastectomy for high grade ER/PR negative Her2 positive invasive ductal carcinoma presented with progressively worsening dysarthria and ataxia over two months. A metabolic work up by her primary care physician was unrevealing. Breast MRI did not show recurrence of …

A Reflection-Spectroscopy Measured Skin Carotenoid Score Strongly Correlates With Plasma Concentrations Of All Major Dietary Carotenoid Species Except For Lycopene, Qiang Wu, Cheryl Webb Cherry, Stephanie Jilcott Pitts, Melissa N Laska, Neal Craft, Nancy E Moran

Children’s Nutrition Research Center Staff Publications

Skin carotenoids can be measured non-invasively using spectroscopy methods to provide a biomarker of total dietary carotenoid and carotenoid-rich fruit and vegetable intake. However, the degree to which skin carotenoid biomarkers reflect intakes of specific carotenoids must be determined for specific devices. Previously, findings were mixed regarding the correlation between reflection spectroscopy (RS)-assessed skin carotenoids and individual plasma carotenoid concentrations. The current study expands on prior analyses to examine the cross-sectional associations between adult RS-assessed skin carotenoids and individual carotenoid species intakes and plasma concentrations, controlling for potential covariates. We hypothesized that RS-assessed skin carotenoid scores would strongly correlate with …

Mapping Epidermal And Dermal Cellular Senescence In Human Skin Aging, Grace T Yu, Clarisse Ganier, David B Allison, Tamara Tchkonia, Sundeep Khosla, James L Kirkland, Magnus D Lynch, Saranya P Wyles

Children’s Nutrition Research Center Staff Publications

Single-cell RNA sequencing and spatial transcriptomics enable unprecedented insight into cellular and molecular pathways implicated in human skin aging and regeneration. Senescent cells are individual cells that are irreversibly cell cycle arrested and can accumulate across the human lifespan due to cell-intrinsic and -extrinsic stressors. With an atlas of single-cell RNA-sequencing and spatial transcriptomics, epidermal and dermal senescence and its effects were investigated, with a focus on melanocytes and fibroblasts. Photoaging due to ultraviolet light exposure was associated with higher burdens of senescent cells, a sign of biological aging, compared to chronological aging. A skin-specific cellular senescence gene set, termed …

Fecal Glucocorticoid Metabolite And T3 Profiles Of Orphaned Elephants Differ From Non-Orphaned Elephants In Zambia, Daniella E Chusyd, Janine L Brown, Steve Paris, Nicole Boisseau, Webster Mwaanga, Moses Kasongo, Lisa Olivier, Stephanie L Dickinson, Bailey Ortyl, Tessa Steiniche, Steven N Austad, David B Allison, Michael D Wasserman

Children’s Nutrition Research Center Staff Publications

Background: Elephants provide valuable insight into how early-life adverse events (ELAEs) associate with animal health and welfare because they can live to advanced ages, display extensive cognitive and memory capabilities, and rely heavily on social bonds. Although it is known that African savanna elephants that experienced ELAEs, such as being orphaned due to human activities, have altered behavioral outcomes, little is known regarding the physiological consequences associated with those stressors.

Methods: We compared fecal glucocorticoid (fGCM) and thyroid (fT3) metabolites as well as body condition scores (BCS) in rescued and rehabilitated orphaned (early-dry season: n = 20; late-dry season: n …

Food-Related Behaviors Of Rural (Asaase Kooko) And Peri-Urban (Kaadjanor) Households In Ghana, Prince Kwabena Osei, Megan A Mccrory, Matilda Steiner-Asiedu, Edward Sazonov, Mingui Sun, Wenyan Jia, Tom Baranowski, Gary Frost, Benny Lo, Alex Kojo Anderson

Children’s Nutrition Research Center Staff Publications

Background: "Food-related behaviors" range widely and include food acquisition, storage, cooking, meal sharing, eating practices, among others. Food-related behaviors can influence nutritional status and health outcomes, and likely vary between rural and peri-urban households; however, there is limited documentation on such differences.

Objective: To assess food-related behaviors of rural and peri-urban households in Ghana to inform the design and implementation of a field study to validate passive wearable camera technologies for dietary assessment.

Methods: This was a cross-sectional qualitative study in rural (Asaase Kokoo) and peri-urban (Kaadjanor) communities, Ghana. Forty key informants (20 rural and 20 peri-urban) were interviewed about …

Regulatory B Cells, The Key Regulator To Induce Immune Tolerance In Organ Transplantation, Jinfeng Liao, Yixin Yang, Jisong Li, Zheng Liu, Siyuan Song, Yu Zeng, Yi Wang

Children’s Nutrition Research Center Staff Publications

In solid organ transplantation, especially renal transplantation, for the induction of immune tolerance, accumulating evidence has revealed that Regulatory B cells (Breg) play a crucial role in stimulating immune tolerance, alleviating immune responses, and improving graft survival. We describe the heterogeneous nature of Bregs, focusing on their defining surface markers and regulatory functions. Meanwhile, the major cytokine secretion function and the correlation between Breg and Treg or other immune checkpoints to balance the immune responses are addressed. Furthermore, we summarized the intrinsic and extrinsic pathways or costimulatory stimuli for the differentiation from naïve B cells. More importantly, we summarized the …

Delayed Tooth Eruption As An Early Clinical Indicator Of Genetical Tooth Agenesis: A Family-Based Study Of Cases With Whole-Exome Sequencing, Yu-Chen Jeng, I-Ting Chen, Hui-Ching Cheng, Hsin-Yu Huang, Chao-Kai Hsu, Yu-Fen Yen

Journal of Dental Sciences

Delayed tooth eruption is frequently considered a benign developmental variation but may represent an early sign of genetically driven tooth agenesis. We evaluated a 22-month-old female presenting with markedly delayed eruption (only eight primary teeth) and a positive family history of ectodermal features. Given the inconclusive early radiographic findings, whole-exome sequencing (WES) was utilized. WES revealed the proband carried a heterozygous EDARADD variant (NM_080738:c.328G>T; p.Asp110Tyr). Subsequent familial segregation analysis identified an additional heterozygous WNT10A variant (NM_025216:c.637G>A; p.Gly213Ser) within the broader family. The EDARADD variant alone was associated with varying presentations from normal dentition to delayed eruption. Furthermore, the …

Implementing A Chatbot To Promote Hereditary Breast & Ovarian Cancer Genetic Screening In Women's Health: Identifying Barriers And Facilitators To Screening Adoption, Easton N. Wollney, Shireen Madani Sims, Luisel J. Ricks-Santi, Elizabeth Eddy, Daniel Wiesman, Carla L. Fisher

Department of Biomedical and Translational Sciences Faculty Publications

Background

To promote genetic screening among women at risk for hereditary breast and ovarian cancer (HBOC), the American College of Obstetricians and Gynecologists recommends that risk assessment be integrated into practice. Chatbots like the Genetic Information Assistant (Gia®) are increasingly implemented to expand access to hereditary genetic screening. Factors that impact chatbot implementation for HBOC risk screening and women's uptake are not fully realized. To refine implementation strategies prior to full scale implementation, we sought to identify women's perceived facilitators/barriers to adopting Gia screening in a rural population within a large healthcare system in the southern United States.

Methods

We …

A Serum Biomarker Panel And Miniarray Detection System For Tracking Disease Activity And Flare Risk In Lupus Nephritis, Chenling Tang, Gongjun Tan, Aygun Teymur, Jiechang Guo, Arturo Haces-Garcia, Weihang Zhu, Richard Williams, Jing Ning, Ramesh Saxena, Tianfu Wu

Faculty, Staff and Student Publications

Introduction: Lupus nephritis (LN) leads to end stage renal disease (ESRD), and early diagnosis and disease monitoring of LN could significantly reduce the risk. however, there is not such a system clinically. In this study we aim to develop a biomarker-panel based point-of-care system for LN.

Methods: Immunoassay screening combined with genomic expression databases and machine learning techniques was used to identify a biomarker panel of LN. A quantitative biomarker-panel mini-array (BPMA) system was developed and the sensitivity, specificity, reproducibility, and stability of the were examined. The performance of BPMA in disease monitoring was validated with machine models using a …

Effect Of Digital Health Coaching On Self-Efficacy And Patient-Reported Outcomes In Individuals With Acute Myeloid And Chronic Lymphocytic Leukemia: A Pilot Randomized Controlled Trial, Jennifer Marvin-Peek, Valerie Shelton, Kelly Brassil, Bryan Fellman, Austin Barr, Kelly Sharon Chien, Danielle Hammond, Mahesh Swaminathan, Nitin Jain, William Wierda, Alessandra Ferrajoli, Courtney Dinardo

Faculty, Staff and Student Publications

Introduction: Promotion of self-efficacy can enhance engagement with health care and treatment adherence in patients with cancer. We report the outcomes of a pilot trial of a digital health coach intervention in patients with leukemia with the aim of improving self-efficacy.

Methods: Adult patients with newly diagnosed acute myeloid leukemia (AML) and chronic lymphocytic leukemia (CLL) were randomized 1:1 to a digital health coach intervention or standard of care. The primary outcome of self-efficacy was measured by the Cancer Behavior Inventory (CBI) score.

Results: A total of 147 patients (37 AML, 110 CLL) were enrolled from July 2020 to December …

Hydroxychloroquine-Induced Cardiomyopathy: A Case Report, Ahmed Hussein, Aya Salih, Tebyan Mohammedali, Yousif Mohamed, L Maximilian Buja

Faculty, Staff and Student Publications

Hydroxychloroquine (HCQ) is an immunomodulatory medication used for decades. HCQ is a weak base accumulating in acidic cytoplasmic vesicles, such as lysosomes. This accumulation raises the pH and interferes with the functions of the lysosomal enzymes, including α-galactosidase A, resulting in a unique clinical and pathologic feature. We present a case with severe HCQ-induced cardiomyopathy to show the pattern of cardiac involvement and available imaging and pathologic modalities. The case involves a 76-year-old woman with a history of Sjögren's disease who had been treated with HCQ for 13 years and presented with symptoms of heart failure. An echocardiogram showed thick …

Magnetization Transfer Ratio In The Typically Developing Pediatric Spinal Cord: Normative Data And Age Correlation, Sara Naghizadeh Kashani, Iswarya Vel, Zahra Sadeghi Adl, Shiva Shahrampour, Devon Middleton, Mahdi Alizadeh, Laura Krisa, Scott Faro, Slimane Tounekti, Julien Cohen-Adad, Feroze Mohamed

Department of Radiology Faculty Papers

BACKGROUND AND PURPOSE: This study presents automated atlas-based magnetization transfer (MT) measurements of the typically developing pediatric cervical spinal cord (SC). We report normative MT ratio (MTR) values from the whole cervical cord white matter (WM) and WM tracts, examining variations with age, sex, height, and weight.

METHODS: MT scans of 33 healthy females (mean age = 12.8) and 22 males (mean age = 13.09) were acquired from the cervical SC (C2-C7) using a 3.0 T MRI. Data were processed using the SC Toolbox, segmented, and registered to the PAM50 template. Affine and non-rigid transformations co-registered the PAM50 WM atlas …

Prevalence Of Depression And Its Coping Strategies Among Rural And Urban Geriatric Population, Mohit Negi, Smitha M C

Digital Journal of Clinical Medicine

Background: Aging is a natural process, and older age is a period in which most aspects of life require support from others. Globally, Depression is a serious public health concern among elderly populations. The aim of this study was to estimate the prevalence of depression and its coping strategies among geriatric population and to evaluate the association between socio-demographic factors and level of depression.

Methods: A cross-sectional study was conducted among 410 study participants in both rural and urban areas. Geriatric Depression Scale (GDS-15) was used to measure the depression and brief-COPE (28-items) scale was used to measure the coping …

Myocardial Infarction Trends Following Covid-19 Vaccination: A Retrospective Investigation From India, Hema S. Pinnam, Hrithika Madhavan, Jagarlamudi Harshitha, Vikram Patil, Harshita Tiwari, Isha A. Kumthekar, Jampala Sri Mounya

Digital Journal of Clinical Medicine

Background: The relationship between COVID-19 vaccination and the incidence of myocardial infarction remains a topic of debate. The study aimed to analyze the demographic, clinical, and outcome characteristics of MI patients post-vaccination in India, focusing on differences between Covishield and Covaxin recipients.

Methods: The retrospective observational study included 303 MI patients admitted to a tertiary care center. Data were collected on demographics, comorbidities, vaccination status, ICU admissions, and outcomes. The Charlson Comorbidity Index (CCI) was used to assess disease severity. Statistical analyses evaluated the associations between vaccination status, clinical parameters, and mortality.

Results: Among the study population, 74.3% were males, …

Establishing Psychiatry Clubs: Novel Approach To Enhance Psychiatry Teaching Learning In India, Akuti Khanna, Kishor M

Digital Journal of Clinical Medicine

Despite the fact that over 150 million Indians suffer from psychiatric disorders, the country faces a severe shortage of mental health professionals, with less than 1,300 psychiatrists graduating annually. One such solution is the establishment of Psychiatry Clubs in medical colleges, which can significantly enhance awareness, education, and community engagement in mental health. The Psychiatry Club at JSS Medical College, Mysuru, established on October 10, 2023, aims to promote mental well-being, provide peer support, as well as foster professional development through workshops, seminars, and collaborations with other mental health professionals and other student led organisations. These clubs offer a sustainable …

Assessment Of Effectiveness And Evaluation Of Perception Among Students Towards Flipped Classroom Learning: A Prospective Study., Nagaraja Prasad Sai, Vedavathi Hanumaiah, Shreenivas Prabhakar Revankar, Shruthi S. Lingesh, Avanthi Eshwar

Digital Journal of Clinical Medicine

BACKGROUND: Flipped learning (FL) is a teaching learning approach in andragogy. In FL students are involved in self-directed learning with the teacher acting as a facilitator and a moderator. Introduction of Competency Based Medical Education led many educators to shift from traditional teaching to blended teaching learning methods. This study was conducted to assess effectiveness and evaluate students’ perception towards FL.

AIM AND OBJECTIVES: To assess effectiveness of FL teaching in improvement of student scores and to evaluate student’s perception towards FL teaching.

MATERIALS AND METHODS: Pre-class activities included study materials in the form of PowerPoint slides …

Changing Climate, Changing Health: Perspectives From General Population In Mysuru, Lekhashree A, Manirsha P V, Paranthaman Chinnasamy, Srishti Arya, Sunil Kumar D

Digital Journal of Clinical Medicine

Background: Climate change has emerged as a major public health concern, contributing to rising morbidity and mortality worldwide. In India, increasing heat waves, unpredictable rainfall, and deteriorating air quality have intensified climate-sensitive health conditions. This study aims to assess the health impacts of climate change among the general population of Mysuru.

Methodology: A community-based cross-sectional study was conducted among 400 residents of Mysuru (April–June 2024). Participants were recruited through simple random sampling. Data were collected using a pre-tested semi-structured questionnaire via Google Forms. Analysis was performed using SPSS v26, with descriptive and inferential statistics.

Results: Among 400 participants, …

Use Of Augmented Reality For Mosquito Breeding Sites Identification, Venant Niyonkuru, Sylla Sekou, Jimmy J. Sinzinkayo

Digital Journal of Clinical Medicine

An augmented reality app is used for detecting the possible breeding locations of mosquitoes in different settings precisely. With the aid of the advanced augmented vision technology, the AR system recognizes water-containing containers that are frequent breeding places for mosquitoes according to the visual information obtained through a head-mounted display. It then overlays visual highlights and labels directly onto these containers within the user's field of view, allowing one to instantly identify and spot breeding sites in real time. By combining state-of-the-art AR functionality with powerful computer vision algorithms, the method provides real-time visual feedback for identifying and tagging mosquito …

A Cross-Sectional Study Of The Correlation Between Working Models, Work-Life Balance And Psychological Distress In It Professionals In An Urban Setting., Neeharika Krishna Kumar, Ponnammal Sundar Lakshmi, Vathsalya S. Gowda, Kshamaa Haradanahalli Giriprakash, Manju Aswath

Digital Journal of Clinical Medicine

Background: India makes up more than 19% of the global Information Technology (IT) Market. The health and well-being of the population employed in this sector will affect their productivity at work and, in turn, the economic outcome. Changes in working models and altered work-life balance can lead to increased distress in IT Professionals, hence the current study.

Methodology: The current cross-sectional descriptive study assessed 247 IT professionals. A semi-structured questionnaire was used for socio-demographic details, working models and work-life balance. Kessler Psychological Distress Scale (K10) Plus was used to assess psychological distress. Statistics and correlations were done using SPSS 20. …

A Study Of Electrocardiogram And Echocardiography Parameters Of Post Covid – 19 Patients, Venkateswararao K, Durga Prasad Sadhupati

Digital Journal of Clinical Medicine

Background: Coronavirus Disease – 2019 [COVID-19] infection is multisystem disease not restricted to the lungs it has negative impact on Cardiovascular system by activation of ACE-2 receptors causing plaque stability, vascular inflammation and MI. ECG and 2D ECHO is a simple bed side diagnostic test can be used to assess cardiovascular disease involvement in such patients. We aimed to find out ECG and 2D ECHO abnormalities of Covid – 19 patients. To Study relation of SARS-COV-2 infection and Prevalence of Cardiovascular disease.

Methods: We perform Cross Sectional study among 500 Post Covid – 19 patients [>20 and

Results: Out …

Subclinical Myocardial Disease: The Next Frontier In Cardiovascular Prevention., Param Darpan Sheth, Chandana S., Nimrah Rehman

Digital Journal of Clinical Medicine

Subclinical myocardial disease refers to pathological cardiac changes that precede overt symptoms. It represents an emerging frontier in cardiovascular disease prevention; wherein early detection of myocardial dysfunction could allow timely intervention to avert heart failure (HF) and other outcomes. This narrative review summarizes the current and emerging tools for detecting subclinical myocardial disease, including advanced cardiac imaging and circulating biomarkers, and discusses their potential to improve risk stratification and preventive care in asymptomatic high-risk individuals. Novel echocardiographic measures such as global longitudinal strain (GLS) can unmask subtle systolic dysfunction despite preserved ejection fraction, while cardiac magnetic resonance (CMR) tissue mapping …

Comparison Of Transversus Abdominis Plane Block Versus Intrathecal Clonidine In Lower Segment Caesarean Section - A Prospective Observational Study, Christy Maria Paul, Dr Somsundar R G Associate Professor, Dr Archana B N Assistant Professor, Dr. Shivakumar G Pofessor And Hod

Digital Journal of Clinical Medicine

Comparison of Transversus Abdominis Plane Block versus Intrathecal Clonidine in Lower Segment Caesarean Section - A Prospective Observational Study

Background and Objective: In the majority of abdominal procedures, transverse abdominis plane block, one of the fascial plane blocks, has been used extensively to treat post-operative pain. Ultrasound has gained popularity in the management of cesarean patients due to its ease of use and reduced adverse effects.To assess the effectiveness of ultrasound guided transverse abdominus plane block with intrathecal clonidine for post surgical pain control in lower segment cesarean patients.

Material and Methods: This prospective observational study was done in …

Development Of A Mediation Model Of Pain Cognition In Adult Patients With Sickle Cell Disease, Daniel M. Sop

Theses and Dissertations

Pain is a hallmark of Sickle Cell Disease (SCD), a genetic hemoglobinopathy characterized by chronic hemolytic anemia, vaso-occlusion, and organ damage. While acute vaso-occlusive crises (VOC) have been extensively studied, the mechanisms underlying chronic pain and its interplay with brain function remain unclear. This dissertation investigates the relationships between cerebral blood flow (CBF), fluid cognition, and pain sensitivity in adults with SCD, utilizing advanced imaging techniques and validated assessment tools.

Arterial spin labeling (ASL) and functional magnetic resonance imaging (fMRI) were employed to measure CBF and brain activity, respectively. Pain sensitivity was assessed using the Pain Sensitivity Questionnaire (PSQ), and …

Enhancing Clinical Trial Matching In Molecular Diagnostics: Using Natural Language Processing And Clustering Approaches In Hematological Malignancies, Gillian Fanning

Theses and Dissertations

Clinical trial matching is a critical component of personalized medicine, particularly in the management of hematologic malignancies. At Virginia Commonwealth University (VCU) Health, the Molecular Diagnostics (MDX) Lab produces somatic variant reports and recommends clinical trials based on the presence of clinically significant mutations. However, the current manual trial recommendation process is time-intensive and lacks scalability.

This study introduces a computational framework to streamline and standardize clinical trial matching using natural language processing (NLP) and unsupervised clustering. Trial brief descriptions were analyzed to extract frequent terms, and trials were grouped based on term similarity using joint dimensionality reduction and clustering. …

Rare Variant Analysis Of Electronic Health Record-Defined Major Depressive Disorder In The All Of Us Research Program, Stephen Emil Vieno

Theses and Dissertations

The underlying pathogenesis of MDD remains poorly understood, with multiple competing hypotheses regarding its exact etiology. As a heterogeneous disorder with relatively low heritability, large-scale genome-wide association studies of MDD have relied on increasingly large sample sizes to identify common genetic variants associated with the disorder. However, the rare variant genetic architecture of MDD is still largely unknown. The aim of the present analysis was to use the AoU—a United States-based biobank that integrates healthcare records from over 50 healthcare systems and possesses whole genome sequencing data for participants—to perform a gene set–based analysis of MDD. This analysis presented several …