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Multilevel Factors Influencing Perceived Barriers To Adjuvant Endocrine Therapy Among Breast Cancer Patients At Medication Onset, Timothy Cocozza, Rita Smith, Ana Maria Lopez, Shari Rudoler, Rachel Slamon, Tingting Zhan, Jazmarie L. Vega, Minal Dhamankar, Aruna Padmanabhan, Suzanne M. Miller, Kuang-Yi Wen May 2025

Multilevel Factors Influencing Perceived Barriers To Adjuvant Endocrine Therapy Among Breast Cancer Patients At Medication Onset, Timothy Cocozza, Rita Smith, Ana Maria Lopez, Shari Rudoler, Rachel Slamon, Tingting Zhan, Jazmarie L. Vega, Minal Dhamankar, Aruna Padmanabhan, Suzanne M. Miller, Kuang-Yi Wen

Department of Medical Oncology Faculty Papers

Purpose: Adjuvant endocrine therapy (AET) significantly diminishes recurrence and mortality risks in hormone receptor-positive breast cancer (BCa) patients. Nonetheless, suboptimal adherence and premature discontinuation during the initial year of treatment undermine these positive outcomes. This study aims to understand the potential diverse factors associated with perceived barriers to AET compliance at the onset of medication. Methods: We assessed perceived barriers to AET using the ASK-20 instrument for BCa patients initiating AET within 3 months. Our survey also included demographic variables (e.g., musculoskeletal symptoms) and clinical traits (e.g., medication type). Stepwise regression analyses were employed to elucidate the links between multilevel …


The Power In Patient Education: A Collaborative Approach To Cancer Care, Eric Singhi, Aurora Lucas May 2025

The Power In Patient Education: A Collaborative Approach To Cancer Care, Eric Singhi, Aurora Lucas

Advances in Cancer Education and Quality Improvement

A viewpoint on patient education


A Case Report On Missed Case Of Lynch Syndrome With Pms2 Loss Of Expression At Extreme Age., Prajjwol Bhatta, Fatima Warraich, Tausif Syed, Venkat Arutla, Himal Kharel, Chengu Niu May 2025

A Case Report On Missed Case Of Lynch Syndrome With Pms2 Loss Of Expression At Extreme Age., Prajjwol Bhatta, Fatima Warraich, Tausif Syed, Venkat Arutla, Himal Kharel, Chengu Niu

Advances in Clinical Medical Research and Healthcare Delivery

Lynch syndrome is an autosomal dominant disorder affecting one of the mismatch repair (MMR) genes. Amsterdam and revised Bethesda criteria are used to identify individuals at risk for Lynch syndrome, but they have limited sensitivity. The CRC Risk assessment tool is effective in identifying high-risk individuals and mutation carriers of Lynch syndrome. Here, in this case report, we present an 84-year-old female with a positive family history of colon cancer in her mother and grandmother, presented in the clinic for a 3-year colonoscopy follow-up, who was found to have a 3 cm sigmoid lesion with central ulceration at 28 …


Chorea Hyperglycemia Basal Ganglia (Chbg) Syndrome: A Case Report, Ammad Naeem, Mohamad Omar Beck, Ahsan R. Khan, Ribal Sajjad May 2025

Chorea Hyperglycemia Basal Ganglia (Chbg) Syndrome: A Case Report, Ammad Naeem, Mohamad Omar Beck, Ahsan R. Khan, Ribal Sajjad

Journal of Community Hospital Internal Medicine Perspectives

Chorea, characterized by sudden, involuntary movements of the face and limbs, arises from various causes, including neurodegenerative diseases, metabolic disorders, and structural brain changes, notably in the basal ganglia. Acute lesions in the basal ganglia due to ischemia or vascular pathology can also precipitate chorea. Hyperglycemia-induced basal ganglia changes, termed chorea hyperglycemia basal ganglia, predominantly affect elderly females with type 2 diabetes. We report a 62- year-old female with poorly managed diabetes presenting with involuntary jerking movements, initially in the right leg, progressing to the right arm, face, and lips over three days. Her history included hyperlipidemia and hypertension, and …


Iron Deficiency—More Than Just Anemia: A Literature Review, Arianna S Moss, Zahra Pakbaz May 2025

Iron Deficiency—More Than Just Anemia: A Literature Review, Arianna S Moss, Zahra Pakbaz

Journal of Community Hospital Internal Medicine Perspectives

Iron deficiency (ID) is a global public health concern, as it can be a prodrome of gastrointestinal (GI) malignancies, exacerbate chronic conditions, and lead to an overall decreased quality of life. Despite being the most prevalent nutritional deficiency, it remains underdiagnosed by many healthcare professionals. Misconceptions regarding the clinical and laboratory manifestations of ID lead to delayed or missed diagnoses, contributing to poor patient outcomes. Though anemia is a commonly known consequence of ID, there are additional consequences that remain underrecognized by the medical community, including vague signs and symptoms, such as fatigue, depression, and abnormalities in white blood cell …


Relationship Between Maternal Iron Indices In The Second Trimester With Cord Blood Iron Indices And Pregnancy Outcomes: A Prospective Cohort Study, J.P. Akshaykirthan, Manjunath S. Somannavar, M.S. Deepthy, Umesh Charantimath, S. Yogeshkumar, Amaresh Patil, Mrutyunjaya B. Bellad, Richard Derman, Shivaprasad S. Goudar May 2025

Relationship Between Maternal Iron Indices In The Second Trimester With Cord Blood Iron Indices And Pregnancy Outcomes: A Prospective Cohort Study, J.P. Akshaykirthan, Manjunath S. Somannavar, M.S. Deepthy, Umesh Charantimath, S. Yogeshkumar, Amaresh Patil, Mrutyunjaya B. Bellad, Richard Derman, Shivaprasad S. Goudar

Global Health Articles

Background/Objectives: Iron deficiency anemia in pregnancy poses risks to mothers and infants. This study aimed to correlate maternal iron indices in the second trimester with cord blood indices and pregnancy outcomes.

Methods: This prospective cohort study was nested within the RAPIDIRON Trial (Reducing Anaemia in Pregnancy in India) at Jawaharlal Nehru Medical College, Karnataka, India. A total of 292 pregnant women with moderate anemia who received oral iron supplementation were enrolled from April 2021 to May 2023. Maternal iron indices were measured at multiple time points and correlated with cord blood indices and pregnancy outcomes.

Results: Increased hemoglobin levels were …


Rescue Of The First Mitochondrial Membrane Carrier, The Mpic, By Tat-Mediated Protein Replacement Treatment, Samar Zabit, Orly Melloul, Michal Lichtenstein, Erin L. Seifert, Haya Lorberboum-Galski May 2025

Rescue Of The First Mitochondrial Membrane Carrier, The Mpic, By Tat-Mediated Protein Replacement Treatment, Samar Zabit, Orly Melloul, Michal Lichtenstein, Erin L. Seifert, Haya Lorberboum-Galski

Department of Pathology, Anatomy, and Cell Biology Faculty Papers

The mitochondrial phosphate carrier (mPiC), encoded by the nuclear gene SLC25A3, is synthesized with an N-terminus mitochondrial targeting sequence (MTS), enabling its import into the mitochondria. mPiC imports inorganic phosphate (Pi) into the mitochondrial matrix for ATP production and other matrix phosphorylation reactions, as well as regulates mitochondrial Ca2+ uptake and buffering of matrix Ca2+. PiC also imports copper (Cu), crucial to COX subunit holoenzyme assembly. Variants in SLC25A3 exist and lead to mPiC deficiency (MPCD), cause a rare autosomal recessive disease with no current cure; patients with MPCD usually die within the first …


Language Mapping During Awake Brain Surgery In A Deaf Patient With A Brain Tumor: Illustrative Case, Ene Chibawanye I, Elizabeth Silva, Kyle Noll, Mariana Bradshaw, Katherine Connelly, Ho-Ling Liu, Ravi Tummala, David Ferson, Frederick F Lang, Vinodh A Kumar May 2025

Language Mapping During Awake Brain Surgery In A Deaf Patient With A Brain Tumor: Illustrative Case, Ene Chibawanye I, Elizabeth Silva, Kyle Noll, Mariana Bradshaw, Katherine Connelly, Ho-Ling Liu, Ravi Tummala, David Ferson, Frederick F Lang, Vinodh A Kumar

Faculty, Staff and Student Publications

Background: Signed language integrates complex sensorimotor processes involving visual and motor networks. The contribution of language regions such as Broca's and Wernicke's areas during signing is not well established. Here, the authors report the case of a 45-year-old right-handed male with congenital deafness, who communicates using American Sign Language (ASL) and Signed English, presenting with focal seizures. Imaging showed a diffuse infiltrative glioma in the right cerebral hemisphere.

Observations: Remarkably, preoperative functional MRI language activations were bihemispheric and overlapped for both traditional language paradigms and sign paradigms, suggesting that the same cortical regions of the brain are used for language …


Catecholaminergic Polymorphic Ventricular Tachycardia-Linked Ryanodine Receptor Variants Exhibit Domain-Specific Calcium Leak And Calmodulin Affinity Properties, Hitoshi Uchinoumi, Xiaoqiong Dong, Ivanita Stefanon, Yi Yang, Eduardo Hertel Ribeiro, Bengt Svensson, Xander H T Wehrens, Takeshi Yamamoto, Razvan L Cornea, Robyn T Rebbeck, Masafumi Yano, Donald M Bers May 2025

Catecholaminergic Polymorphic Ventricular Tachycardia-Linked Ryanodine Receptor Variants Exhibit Domain-Specific Calcium Leak And Calmodulin Affinity Properties, Hitoshi Uchinoumi, Xiaoqiong Dong, Ivanita Stefanon, Yi Yang, Eduardo Hertel Ribeiro, Bengt Svensson, Xander H T Wehrens, Takeshi Yamamoto, Razvan L Cornea, Robyn T Rebbeck, Masafumi Yano, Donald M Bers

Faculty, Staff and Students Publications

Catecholaminergic polymorphic ventricular tachycardia (CPVT) is an inherited stress-induced arrhythmogenic disease often caused by point variants in the cardiac ryanodine receptor (RyR2) that enhance diastolic sarcoplasmic reticulum (SR) Ca2+ leak. These RyR2 variants cluster in three hot-spots (N-terminal, central and C-terminal domains). We previously demonstrated a pathologic diastolic RyR2 conformation in heart failure, oxidative stress and CaMKII phosphorylation exhibiting a trilogy of effects: (1) reduced calmodulin (CaM)-RyR2 affinity, (2) enhanced unzipping peptide (DPc10) binding and (3) elevated diastolic SR Ca2+ leak that are dantrolene-sensitive. Here we test whether this pathological trilogy occurs in CPVT knock-in (KI) mice bearing N-terminal (R176Q/+), …


Gut Dysbiosis Patterns In Cvid Patients With Noninfectious Complications Observed In A Germ-Free Mouse Model Through Fecal Microbiota Transplantation, Joud Hajjar, Anita Y Voigt, Margaret E Conner, Alton G Swennes, Stephanie Fowler, Chadi Calarge, Danielle D Mendonca, Dominique Armstrong, Chen-Yen Chang, Jolan E Walter, Manish J Butte, Tor Savidge, Julia Oh, Farrah Kheradmand, Joseph F Petrosino May 2025

Gut Dysbiosis Patterns In Cvid Patients With Noninfectious Complications Observed In A Germ-Free Mouse Model Through Fecal Microbiota Transplantation, Joud Hajjar, Anita Y Voigt, Margaret E Conner, Alton G Swennes, Stephanie Fowler, Chadi Calarge, Danielle D Mendonca, Dominique Armstrong, Chen-Yen Chang, Jolan E Walter, Manish J Butte, Tor Savidge, Julia Oh, Farrah Kheradmand, Joseph F Petrosino

Faculty, Staff and Students Publications

Patients with common variable immunodeficiency (CVID) who develop noninfectious complications (NIC) have worse clinical outcomes than those with infections only (INF). While gut microbiome aberrations have been linked to NIC, reductionist animal models that accurately recapitulate CVID are lacking. Our aim in this study was to uncover potential microbiome roles in the development of NIC in CVID. We performed whole-genome shotgun sequencing on fecal samples from CVID patients with NIC, INF, and their household controls. We also performed fecal microbiota transplants from CVID patients to germ-free mice. We found potentially pathogenic microbes


Protocol For A Randomized Controlled Trial To Determine If Biomarkers Predict Response To A Pediatric Chronic Pain Symptom Management Program, Rona L Levy, Tasha B Murphy, Margaret M Heitkemper, Miranda A L Van Tilburg, Ann R Mcmeans, Jocelyn Chang, Cynthia Boutte, Katherine Lamparyk, Bruno P Chumpitazi, Robert J Shulman May 2025

Protocol For A Randomized Controlled Trial To Determine If Biomarkers Predict Response To A Pediatric Chronic Pain Symptom Management Program, Rona L Levy, Tasha B Murphy, Margaret M Heitkemper, Miranda A L Van Tilburg, Ann R Mcmeans, Jocelyn Chang, Cynthia Boutte, Katherine Lamparyk, Bruno P Chumpitazi, Robert J Shulman

Faculty, Staff and Students Publications

Background/Objectives: Disorders of gut-brain interaction (DGBI), characterized by chronic abdominal pain and significant disability, affect 15-20% of children and adults and continue into adulthood in ~60% of cases. Costs for adults reach USD 30 billion per year, yet effective management strategies are elusive. Studies support using cognitive behavioral therapy (CBT), but abdominal pain only improves in ~40% of patients. Dietary management (low FODMAP diet; LFD) has also shown promise but it is effective in only a similar percentage of patients. Studies suggest that biologic factors (biomarkers) contribute to CBT response. Similarly, gut microbiome composition appears to influence abdominal pain …


Protocol For A Randomized Controlled Trial To Determine If Biomarkers Predict Response To A Pediatric Chronic Pain Symptom Management Program, Rona L Levy, Tasha B Murphy, Margaret M Heitkemper, Miranda A L Van Tilburg, Ann R Mcmeans, Jocelyn Chang, Cynthia Boutte, Katherine Lamparyk, Bruno P Chumpitazi, Robert J Shulman May 2025

Protocol For A Randomized Controlled Trial To Determine If Biomarkers Predict Response To A Pediatric Chronic Pain Symptom Management Program, Rona L Levy, Tasha B Murphy, Margaret M Heitkemper, Miranda A L Van Tilburg, Ann R Mcmeans, Jocelyn Chang, Cynthia Boutte, Katherine Lamparyk, Bruno P Chumpitazi, Robert J Shulman

Children’s Nutrition Research Center Staff Publications

Background/Objectives: Disorders of gut-brain interaction (DGBI), characterized by chronic abdominal pain and significant disability, affect 15-20% of children and adults and continue into adulthood in ~60% of cases. Costs for adults reach USD 30 billion per year, yet effective management strategies are elusive. Studies support using cognitive behavioral therapy (CBT), but abdominal pain only improves in ~40% of patients. Dietary management (low FODMAP diet; LFD) has also shown promise but it is effective in only a similar percentage of patients. Studies suggest that biologic factors (biomarkers) contribute to CBT response. Similarly, gut microbiome composition appears to influence abdominal pain …


Preserving What Matters: A Multimodal Approach To Maintaining Fat-Free Mass During Anti-Obesity Medication Based Weight Loss, Sarah Gore May 2025

Preserving What Matters: A Multimodal Approach To Maintaining Fat-Free Mass During Anti-Obesity Medication Based Weight Loss, Sarah Gore

Evidence-Based Practice Project Reports

Weight loss is often associated with reductions in fat-free mass (FFM), which can negatively impact metabolic rate, thermoregulation, bone density, functional capacity, and overall quality of life (Roth et al., 2022; Sedlmeier et al., 2021). This Evidence-Based Practice project aimed to reduce FFM loss in adults prescribed anti-obesity medications (AOMs) for weight management through a targeted, multimodal intervention. Twenty-two patients beginning AOM treatment at a family practice in northwest Indiana were invited to participate, with 19 consenting to enroll. Each participant received personalized guidance, including tailored calorie and protein intake goals to support a hypocaloric, high-protein diet, alongside evidence-based aerobic …


Impact Of Implementing An Updated Cervical Cancer Screening Protocol In The Primary Care Setting, Teri A. Koch May 2025

Impact Of Implementing An Updated Cervical Cancer Screening Protocol In The Primary Care Setting, Teri A. Koch

Evidence-Based Practice Project Reports

Cervical cancer is one of the most common types of cancer among women globally. Current screening methods by clinicians include cytology sampling, high-risk human papillomavirus sampling, or co-testing with both methods. These tests may detect cell changes before they become cancerous, yet the uptake of these methods has decreased in recent years (Aginga, 2022; Office of Disease Prevention and Health Promotion, 2023; Popalis et al., 2022; Sung et al., 2021). The primary purpose of this evidence-based practice project was to determine if the implementation of an updated cervical screening protocol improved the linkage of abnormal results to appropriate clinical follow-up …


A Sumo-Interacting Motif In The Guanine Nucleotide Exchange Factor Epac1 Is Required For Subcellular Targeting And Function, Wenli Yang, Fang Mei, Wei Lin, Jason E Lee, Si Nie, Christopher J Bley, André Hoelz, Xiaodong Cheng May 2025

A Sumo-Interacting Motif In The Guanine Nucleotide Exchange Factor Epac1 Is Required For Subcellular Targeting And Function, Wenli Yang, Fang Mei, Wei Lin, Jason E Lee, Si Nie, Christopher J Bley, André Hoelz, Xiaodong Cheng

Faculty, Staff and Students Publications

Exchange protein directly activated by cAMP (EPAC1), a multifunctional intracellular cAMP receptor, dynamically localizes to various cellular loci, engaging with diverse molecular partners to maintain cellular homeostasis. The study investigates the role of the SUMO interacting motif (SIM) in the subcellular targeting and cellular functions of EPAC1. It reveals that the SIM is a critical structural element for EPAC1's association with RanBP2/Nup358, a nucleoporin of the cytoplasmic filament component of the nuclear pore complex (NPC). Mutational disruption of EPAC1 SIM interferes with EPAC1's ability to activate its canonical effectors, small GTPases, Rap1 and Rap2, and non-canonical functions, such as the …


Alzheimer’S Disease Protective Allele Of Clusterin Modulates Neuronal Excitability Through Lipid-Droplet-Mediated Neuron-Glia Communication, Xiaojie Zhao, Yan Li, Siwei Zhang, Ari Sudwarts, Hanwen Zhang, Alena Kozlova, Matthew J Moulton, Lindsey D Goodman, Zhiping P Pang, Alan R Sanders, Hugo J Bellen, Gopal Thinakaran, Jubao Duan May 2025

Alzheimer’S Disease Protective Allele Of Clusterin Modulates Neuronal Excitability Through Lipid-Droplet-Mediated Neuron-Glia Communication, Xiaojie Zhao, Yan Li, Siwei Zhang, Ari Sudwarts, Hanwen Zhang, Alena Kozlova, Matthew J Moulton, Lindsey D Goodman, Zhiping P Pang, Alan R Sanders, Hugo J Bellen, Gopal Thinakaran, Jubao Duan

Duncan NRI Faculty and Staff Publications

Background: Genome-wide association studies (GWAS) of Alzheimer's disease (AD) have identified a plethora of risk loci. However, the disease variants/genes and the underlying mechanisms have not been extensively studied.

Methods: Bulk ATAC-seq was performed in induced pluripotent stem cells (iPSCs) differentiated various brain cell types to identify allele-specific open chromatin (ASoC) SNPs. CRISPR-Cas9 editing generated isogenic pairs, which were then differentiated into glutamatergic neurons (iGlut). Transcriptomic analysis and functional studies of iGlut co-cultured with mouse astrocytes assessed neuronal excitability and lipid droplet formation.

Results: We identified a putative causal SNP of CLU that impacted neuronal chromatin accessibility to transcription-factor(s), with …


Post-Discharge Telephone Intervention With A Clinical Pharmacy Specialist For Gastrointestinal Medical Oncology Patients, Jane E. Rogers, Michael Leung, Amanda Sirisaengtaksin, Jennifer Zadlo, Van Nguyen, Morgan Mace, Wendy Covert, Makenna Smack, Stacy Diao, Zhou Fang, Andrea Landgraf, Mariela Blum Murphy May 2025

Post-Discharge Telephone Intervention With A Clinical Pharmacy Specialist For Gastrointestinal Medical Oncology Patients, Jane E. Rogers, Michael Leung, Amanda Sirisaengtaksin, Jennifer Zadlo, Van Nguyen, Morgan Mace, Wendy Covert, Makenna Smack, Stacy Diao, Zhou Fang, Andrea Landgraf, Mariela Blum Murphy

Advances in Cancer Education and Quality Improvement

Background: Oncology patients are a vulnerable population with medication-related problems spanning across care settings. Gastrointestinal medical oncology (GIMO) patients often have unique medication challenges due to extensive treatment history. High-quality medication reconciliation aids in preventing medication discrepancies and potential adverse events during transitions of care. We conducted a pilot post-hospital discharge intervention with clinical pharmacy specialists for GIMO patients.

Objective: The primary objective was to identify the frequency of medication discrepancies.

Methods: GIMO patients discharged from our hospital were identified and called within 7 days of discharge. Clinical pharmacy specialist telephone encounters occurred between December 2021 and February 2022.

Results: …


Evaluating The Impact Of A Renal Dosing Refreshable Sidebar Report On Appropriateness Of Antimicrobial Dosing At A Large Acute Care Cancer Hospital, Emily Fox, Jovan Borjan, Nancy Vuong, Hannah Aune, Claire Marten, Joshua Hendrickson May 2025

Evaluating The Impact Of A Renal Dosing Refreshable Sidebar Report On Appropriateness Of Antimicrobial Dosing At A Large Acute Care Cancer Hospital, Emily Fox, Jovan Borjan, Nancy Vuong, Hannah Aune, Claire Marten, Joshua Hendrickson

Advances in Cancer Education and Quality Improvement

Background: Appropriate antimicrobial dosing is vital in the treatment of patients with infectious diseases, though adherence to guideline recommended doses is often suboptimal.

Outcomes: This study was conducted to evaluate the impact of a renal dosing refreshable sidebar report, which displayed recommendations from a previously developed institutional antimicrobial dosing guide at the time of antimicrobial order entry. The primary outcome was adherence to daptomycin dosing guideline recommendations before and after implementation.

Methods: This was a pre- and post-quasi-experimental study at a 600-bed acute care cancer hospital. Adult patients (≥18 years old) that received daptomycin from February-April 2021 (pre-intervention phase) and …


Double Trouble: A Case Of Persistent Left-Sided Superior Vena Cava, Lark Steafo, Kateryna Strubchevska, Olena Strubchevska, Marko Kozyk, Shazil Mahmood, Steven Timmis May 2025

Double Trouble: A Case Of Persistent Left-Sided Superior Vena Cava, Lark Steafo, Kateryna Strubchevska, Olena Strubchevska, Marko Kozyk, Shazil Mahmood, Steven Timmis

Conference Presentation Abstracts

A persistent left-sided superior vena cava (PLSVC) is a rare vascular anomaly where the left superior cardinal vein fails to regress during embryogenesis, resulting in an additional venous structure that drains into the right atrium, often via the coronary sinus. It is usually asymptomatic but may be discovered incidentally during imaging or procedures, but its presence can have implications for central venous access and pacemaker placement. Our case features an 82-year-old male with a past medical history of coronary artery disease, remote esophageal cancer, hypertension, hyperlipidemia, and tobacco use disorder, referred to the emergency department from his primary care doctor’s …


A Multimodal Intervention To Improve Treatment And Clinical Outcomes In Children With Recurrent Otitis Media, Daniel Courtaney May 2025

A Multimodal Intervention To Improve Treatment And Clinical Outcomes In Children With Recurrent Otitis Media, Daniel Courtaney

Evidence-Based Practice Project Reports

Acute otitis media is the number one cause for primary health care visits and antibiotic prescriptions in the pediatric population (El Feghaly & Jackson, 2023). Upwards of 27% of children experience multiple episodes of otitis media (OM) that meet recurrent otitis media (ROM) diagnosis criteria (Pelton & Marchisio, 2023). Guided by the Iowa Model (Iowa Model Collaborative, 2017), the project’s purpose was to implement a multimodal intervention to decrease recurrent OM and repeat clinic visits. A comprehensive literature search of 5 databases yielded 16 sources ranging from levels I-IV (Melnyk & Fineout-Overholt, 2023). Using the AGREE II and JBI Critical …


Pilot Study Of Serial Telemedicine Assessments To Safely Exclude Neonates From Therapeutic Hypothermia Treatment, Alexa Craig, Anya K. Cutler May 2025

Pilot Study Of Serial Telemedicine Assessments To Safely Exclude Neonates From Therapeutic Hypothermia Treatment, Alexa Craig, Anya K. Cutler

Costas T. Lambrew Research Retreat 2025

Two neonatal encephalopathy exams performed by telemedicine, with scores of less than 4, correctly excluded neonates from treatment with therapeutic hypothermia.


Crispr/Ncas9-Edited Cd34+ Cells Rescue Mucopolysaccharidosis Iva Fibroblasts Phenotype, Angélica María Herreno-Pachón, Andrés Felipe Leal, Shaukat Khan, Carlos Javier Alméciga-Díaz, Shunji Tomatsu May 2025

Crispr/Ncas9-Edited Cd34+ Cells Rescue Mucopolysaccharidosis Iva Fibroblasts Phenotype, Angélica María Herreno-Pachón, Andrés Felipe Leal, Shaukat Khan, Carlos Javier Alméciga-Díaz, Shunji Tomatsu

Department of Pediatrics Faculty Papers

Mucopolysaccharidosis (MPS) IVA is a bone-affecting lysosomal storage disease (LSD) caused by impaired degradation of the glycosaminoglycans (GAGs) keratan sulfate (KS) and chondroitin 6-sulfate (C6S) due to deficient N-acetylgalactosamine-6-sulfatase (GALNS) enzyme activity. Previously, we successfully developed and validated a CRISPR/nCas9-based gene therapy (GT) to insert an expression cassette at the AAVS1 and ROSA26 loci in human MPS IVA fibroblasts and MPS IVA mice, respectively. In this study, we have extended our approach to evaluate the effectiveness of our CRISPR/nCas9-based GT in editing human CD34+ cells to mediate cross-correction of MPS IVA fibroblasts. CD34+ cells were electroporated with the CRISPR/nCas9 system, …


Genomic Characterization Of High-Grade Serous Ovarian Carcinoma Reveals Distinct Somatic Features In Black Individuals, Katherine A Lawson-Michod, Jeffrey R Marks, Lindsay J Collin, David A Nix, Natalie R Davidson, Chad D Huff, Yao Yu, Aaron Atkinson, Courtney E Johnson, Lucas A Salas, Lauren C Peres, Casey S Greene, Joellen M Schildkraut, Jennifer A Doherty May 2025

Genomic Characterization Of High-Grade Serous Ovarian Carcinoma Reveals Distinct Somatic Features In Black Individuals, Katherine A Lawson-Michod, Jeffrey R Marks, Lindsay J Collin, David A Nix, Natalie R Davidson, Chad D Huff, Yao Yu, Aaron Atkinson, Courtney E Johnson, Lucas A Salas, Lauren C Peres, Casey S Greene, Joellen M Schildkraut, Jennifer A Doherty

Faculty, Staff and Student Publications

Black individuals experience worse survival after a diagnosis of high-grade serous ovarian carcinoma (HGSC) than White individuals and are underrepresented in ovarian cancer research. To date, the understanding of the molecular and genomic heterogeneity of HGSC is based primarily on the evaluation of tumors from White individuals. In the present study, we performed whole-exome sequencing on HGSC samples from 211 Black patients to identify significantly mutated genes and characterize mutational signatures, assessing their distributions by gene expression subtypes. The occurrence and frequency of somatic mutations and signatures by self-reported race were compared with historic data from The Cancer Genome Atlas …


Reexploring The Stress Trial: Subgroup Postoperative Outcomes Following Methylprednisolone For Infant Heart Surgery, Sudeep D Sunthankar, Kevin D Hill, Jeffrey P Jacobs, H Scott Baldwin, Marshall L Jacobs, Jennifer S Li, Eric M Graham, Ashraf M Resheidat, Venugopal Amula, Mark S Bleiweis, Eric L Wald, Pirooz Eghtesady, John P Scott, Brett R Anderson, Michael F Swartz, Alexis Benscoter, William Ravekes, Prince J Kannankeril May 2025

Reexploring The Stress Trial: Subgroup Postoperative Outcomes Following Methylprednisolone For Infant Heart Surgery, Sudeep D Sunthankar, Kevin D Hill, Jeffrey P Jacobs, H Scott Baldwin, Marshall L Jacobs, Jennifer S Li, Eric M Graham, Ashraf M Resheidat, Venugopal Amula, Mark S Bleiweis, Eric L Wald, Pirooz Eghtesady, John P Scott, Brett R Anderson, Michael F Swartz, Alexis Benscoter, William Ravekes, Prince J Kannankeril

Faculty, Staff and Students Publications

Objective Assess the association between intraoperative methylprednisolone and specific postoperative outcomes among subgroups undergoing infant heart surgery.

Design: Subpopulation analyses of The Steroids to Reduce Systemic Inflammation after Infant Heart Surgery trial, a double-blind randomized placebo-controlled trial.

Setting: 24 congenital heart centers.

Patients: Infants (< 1 year old) undergoing heart surgery with cardiopulmonary bypass. Patients stratified by Society of Thoracic Surgeons-European Association for Cardio-Thoracic Surgery Congenital Heart Surgery (STAT) Mortality Category, age, gestational age, and presence of chromosomal or syndromic diagnosis (CSD).

Interventions: Methylprednisolone (30 mg/kg) versus placebo administered into cardiopulmonary bypass pump-priming fluid.

Measurements and main results: Outcomes included death, heart transplantation, mechanical circulatory support, reinterventions, and hospital length of stay. Ranked composite outcome (death, transplant, or one of 13 major complications) was compared between placebo and methylprednisolone for each subgroup using the win ratio. Methylprednisolone …


A Tobacco Treatment Training Program Expands The Number Of Healthcare Providers Trained To Use Evidence-Based Practices And Methods, Alex Hurst, Maher Karam-Hage, Jennifer Cofer, Mehwish Javaid, Diane Beneventi, Janice Blalock, Tiffany Winter, Paul M. Cinciripini, Ernest Hawk May 2025

A Tobacco Treatment Training Program Expands The Number Of Healthcare Providers Trained To Use Evidence-Based Practices And Methods, Alex Hurst, Maher Karam-Hage, Jennifer Cofer, Mehwish Javaid, Diane Beneventi, Janice Blalock, Tiffany Winter, Paul M. Cinciripini, Ernest Hawk

Advances in Cancer Education and Quality Improvement

Tobacco-use disorder remains a global health challenge, despite declining rates, and is a leading cause of morbidity and mortality, especially among special populations that disproportionally do not have access to comprehensive treatment services. The lack of trained providers and slow dissemination of new tobacco treatment knowledge are obstacles to accessing comprehensive evidence-based treatments. Less is known about the impact of specialized training programs on healthcare professionals' ability to effectively treat tobacco use. This paper reports on the evaluation of the tobacco treatment training program, training methodology, and the demographics of the specialists trained.

MD Anderson’s Tobacco Treatment Training Program (TTTP) …


Efficacy Of Neuromuscular Ultrasound In Diagnosing And Treating A Mammogram-Induced Brachial Plexus Injury-A Case Report, Jaime Dougherty, Tyler Pigott, Altamash E Raja May 2025

Efficacy Of Neuromuscular Ultrasound In Diagnosing And Treating A Mammogram-Induced Brachial Plexus Injury-A Case Report, Jaime Dougherty, Tyler Pigott, Altamash E Raja

Rowan-Virtua School of Osteopathic Medicine Departmental Research

A 40-year-old woman presented with chronic left anterior shoulder, upper arm, and axillary pain following a routine mammogram 3 years prior. Despite multiple interventions, her pain persisted significantly affecting her quality of life. Ultrasound examination revealed fascicular edema in the medial brachial cutaneous nerve (MBCN), intercostobrachial cutaneous nerve (ICBN), and a positive sono-Tinel. Ultrasound-guided hydrodissection of these nerves provided complete axillary pain relief and significant improvement in anterior arm pain, sustained for 6 months. This case highlights the diagnostic challenges of cutaneous nerve entrapment syndromes, often overlooked and misdiagnosed, especially without a clear inciting injury. Ultrasound proves superior to electrodiagnostic …


A New Approach: Evaluating The Effectiveness Of Artificial Intelligence Developments For Trauma Triage In The Emergency Department, William C. Anoka May 2025

A New Approach: Evaluating The Effectiveness Of Artificial Intelligence Developments For Trauma Triage In The Emergency Department, William C. Anoka

2025 Spring Honors Capstone Projects - Archive

Triage in emergent situations occurs when patients are assigned to areas of the hospital with different levels of care according to the perceived risks determined by their signs and symptoms. The variability of current triage protocols substantially increases the proportion of lower acuity patients who die unexpectedly due to improper risk stratification. However, recent artificial intelligence (AI) developments have been applied to trauma triage situations to improve accuracy and patient outcomes. To further evaluate the effectiveness of this new tool, this study used various AI models to assess the presenting assessments of multiple situations and determine the appropriate level of …


Advancing Research On Retinitis Pigmentosa: An Investigation Of Natural History, Visual System Plasticity, And Mutation-Independent Treatment., Cecilia A. Attaway May 2025

Advancing Research On Retinitis Pigmentosa: An Investigation Of Natural History, Visual System Plasticity, And Mutation-Independent Treatment., Cecilia A. Attaway

Electronic Theses and Dissertations

Retinitis Pigmentosa (RP) is an inherited retinal disease characterized by rod and then cone photoreceptor degeneration. ~25% of cases are caused by a genetic mutation that results in autosomal dominant RP (adRP). There has been a lack of exploration of the progression of degeneration in adRP models. In Chapter Two, I examined visual acuity (VA) changes, retinal structure, and function from early to late-stage disease in a murine P23H Rho ‘knock-in’ mouse model (RhoP23H/+), the most common form of adRP in North America. To establish a natural history, I evaluated behavioral VA, using the visual water task, …


Toward The Application Of Natural Language Processing In Electronic Health Record Analysis For Taxonomy Development, Latoya Mcdonald May 2025

Toward The Application Of Natural Language Processing In Electronic Health Record Analysis For Taxonomy Development, Latoya Mcdonald

All Dissertations

Electronic health records (EHRs) are pivotal resources for nurse practice because they increase the timeliness and reliability of patient information at the point of care and support access by multiple healthcare providers and the individual patients themselves. However, it is widely recognized that data extraction from EHRs is challenging due to the variability in the language used in clinical care notes and the lack of standardized terminology across healthcare systems. The broad objective of this dissertation is to develop taxonomy-based classification models for nursing care by applying feature engineering approaches to EHRs that include nursing care of ostomy patients following …


The Role Of Responsive Feeding In Childhood Development And Clinical Implications: A Comprehensive Literature Review, Alexander Burbach May 2025

The Role Of Responsive Feeding In Childhood Development And Clinical Implications: A Comprehensive Literature Review, Alexander Burbach

Capstone Experience: Master of Public Health

Responsive feeding refers to caregiver-infant feeding interactions that encourage healthy eating behaviors and support the child’s autonomy by responding to their hunger and satiety cues. Responsive feeding supports healthy early childhood development, influencing self-regulation in eating behaviors and long-term health outcomes, particularly in obesity prevention. A comprehensive literature review was conducted to examine the impact of responsive feeding practices on childhood development in the United States and its clinical implications. The objectives were to explore the role of parental feeding practices in shaping childhood eating behaviors, understand the relationship between responsive feeding and obesity, and determine literature daps. Articles for …