Medicine and Health Sciences Commons^™

Rectal Fidaxomicin As Salvage Therapy In Fulminant Clostridioides Difficile Infection After Total Colectomy: A Case Report, Akankcha Alok, Mohamed Ismail, Stephanie Pino Fabara, Mohammed Al Said, Vidya Sagar Kollu

HCA Healthcare Journal of Medicine

Introduction

Clostridioides difficile infection (CDI) is a significant cause of antibiotic-associated diarrhea and colitis, ranging from mild to severe and potentially life-threatening conditions, like fulminant colitis with toxic megacolon and bowel perforation. The 2021 guidelines from the Infectious Diseases Society of America (IDSA) and Society for Healthcare Epidemiology of America (SHEA) recommend vancomycin and metronidazole for fulminant CDI (FCDI), with consideration of rectal vancomycin for cases with ileus. Fidaxomicin, though preferred for initial and recurrent CDI treatment, is not the first line for FCDI due to limited evidence. Fidaxomicin has a narrow spectrum of activity only targeting C difficile and …

Clinical Images Of Cutaneous Horns In Patients Presenting To A Family Medicine Residency Practice, Julia Fashner, Tillie Schumann

HCA Healthcare Journal of Medicine

We detail 2 cases of cutaneous horn, also referred to as cornu cutaneum, which is a hard-compacted linear outgrowth of keratin that projects above the skin. We present these images to increase awareness for all medical specialties who may see a patient with this skin lesion.

Clinical Characteristics Associated With Hospital Mortality And Length Of Stay Among Older Adults Admitted With Delirium: Retrospective Analysis, Se Won Lee, Jeff J. Kim, Cole Kretchmar, Napatkamon Ayutyanont, Mooyeon Oh-Park

HCA Healthcare Journal of Medicine

Background

Limited information exists on the characteristics of older adults admitted with delirium at risk of poor hospital outcomes. This study aims to identify risk factors present on admission that are associated with hospital mortality and length of stay (LOS) among older adults admitted with delirium.

Methods

This is a retrospective study of 5598 patients 65 years of age or older who were admitted to acute care units at 8 community hospitals with an International Statistical Classification of Diseases, Tenth Revision code of delirium.

Results

Multivariate regression analyses revealed that in-hospital mortality increase was associated with increased age, Asian race, …

Can The Combination Of White Blood Cell Count And C-Reactive Protein Rule Out Pediatric Appendicitis, A Retrospective Analysis?, Scott Gutovitz, Samantha Stoner, Jarrett Koper, Sarah Kleist

HCA Healthcare Journal of Medicine

Background

Pediatric appendicitis (PA) is the most frequent cause of pediatric emergency surgery. Standard PA scoring systems incorporate inflammatory biomarkers (white blood cell count [WBC] or C-reactive protein [CRP]); however, the individual biomarker sensitivities have not been reported beyond single-center sites. We aimed to measure the individual and combined sensitivities of WBC and CRP to rule out PA in a large multicenter hospital system.

Methods

We did a retrospective study of pediatric emergency department patients (age <18) with abdominal pain, using a deidentified electronic health database from a 175-hospital system in the United States, comparing PA versus non-PA patients. Pediatric appendicitis patients were identified by ICD-10 diagnosis codes and had advanced imaging, whereas non-PA patients had advanced imaging and were discharged home with the ICD-10 code for abdominal pain. Using matched propensity matching, we calculated receiver operator characteristics and Youden’s index to find the optimal cutpoints. Sensitivity was calculated at the optimal and traditional cutpoints for each biomarker, also combined in parallel fashion.

Results

We identified 7414 subjects (3707 PA matched to 3707 controls). The WBC in PA patients was 14.99 ± 5.00 k/mm³ versus 9.63 …

Beyond The Norm: Decoding Spontaneous Coronary Artery Dissection As An Unusual Cause Of Acute Coronary Syndrome, Holden Zimmerman, Himanshi Banker, Inder P. Kaur, Jaskaran Munjal, Vasu Gupta, Ayushi Garg, Nikita Garg, Meet Patel, Rohit Jain

HCA Healthcare Journal of Medicine

Spontaneous coronary artery dissection (SCAD) is a rare nonatherosclerotic cause of myocardial infarction among young women, particularly during pregnancy. As the name suggests, SCAD is caused by the spontaneous formation of the false lumen within the coronary artery wall, thus compromising the blood flow to the myocardium. Unlike atherosclerotic acute coronary syndromes, SCAD is not directly associated with diabetes or hypertension; moreover, underlying connective tissue defects and inflammation are considered more contributory towards its etiology. Although its pathophysiology is not well understood, multiple theories have been proposed. Clinically, SCAD has a similar presentation to acute coronary syndromes, including substernal chest …

Response: Letter To The Editor, Exercise Is A Vital Sign, Megan Dannemiller, Anthony Shadiack, Marvin Sineath Jr, Andrew Baird, Marc Poirier, Kevin Thomas, Michael G. Flynn

HCA Healthcare Journal of Medicine

This letter is submitted in response to the letter to the editor regarding the authors’ article “Exercise Is a Vital Sign.”

Exercise Promotes Health But Is Not A Vital Sign, Jacob Draves, Halil Tekiner, Steven H. Yale, Eileen S. Yale

HCA Healthcare Journal of Medicine

The term “vital sign” has been attached to at least 83 conditions, symptoms, or phenomena in the literature to highlight their role and importance in overall health and well-being. This has created considerable confusion and overlapping terms in the medical literature. The 4 time-honored vital signs include temperature, pulse, blood pressure, and respiration. Two other measurements, blood oxygen saturation, and capnography (end-tidal CO2) are considered the fifth and sixth vital signs, respectively. The authors argue that exercise should be named a vital sign, and several authors have designated it as the fifth vital sign. However, not all symptoms or phenomena, …

The Art Of Movement, Payton Hedderman

Journal of Undergraduate Research at Minnesota State University, Mankato

I wanted to do this project for my Interdisciplinary Studies Capstone to showcase some of my skills and to articulate what I want to do with my degree. I want to go into Medical Illustration, and I want to make science easier for people to learn. To do this I want to take complicated subjects and remake them into simpler terms. For my capstone, I decided to take anatomy of the arm, leg, and abdominal organs and draw them on professional women athletes. I thought that expressing this anatomy in less of a clinical way is one strategy to make …

Art Therapy In Social Work Practice, Laura Gebur

Journal of Undergraduate Research at Minnesota State University, Mankato

Art therapy is an emerging practice among mental health professionals looking for new ways to engage with their clients and encourage nonverbal communication. Creativity is a means of processing memories, improving relationships, and strengthening the mind-body connection across a variety of age groups and practice settings. The efficacy of art therapy has led to its integration into social work practice, benefitting a diverse range of client populations within the field. While a lack of macro-level research studies has prevented the implementation of standardized art therapy techniques in social work, clinical research trials have examined art therapy across several areas of …

Circulating Inflammatory Biomarkers And Endometriosis Lesion Characteristics In The Wise Consortium, Kathryn L. Terry, Amy Shafrir, Ashley Laliberte, Allison F. Vitonis, Kurtis Garbutt, Mary Depari, Christian Becker, Naoko Sasamoto, Krina T. Zondervan, Stacey A. Missmer

Health Sciences Faculty Publications

Endometriosis is a chronic inflammatory condition requiring surgical or imaging visualization for definitive diagnosis. How endometriotic lesion characteristics relate to circulating inflammatory markers remains unclear. We evaluated 11 inflammatory biomarkers, including interleukin (IL)-1β, -6, -8, -10, -16, tumor necrosis factor (TNF)-α, thymus and activation regulated chemokine (TARC), monocyte chemotactic protein (MCP)-1, -4, and Interferon gamma-induced protein (IP)-10, in 566 participants with endometriosis from the Women’s Health Study: From Adolescence to Adulthood (A2A), Endometriosis Oxford Care & Research (CaRe) study (ENDOX) and Endometriosis: Natural History, Diagnosis, and Outcome (ENDO) study to evaluate associations with endometriosis characteristics, including macrophenotype (superficial lesions only, …

Supporting Clinical Identification Of Children With Sensory Integration Challenges: A Decision Guide For Primary Care Providers, Shelly J. Lane, Sarah A. Schoen, Roseann Schaaf, Anita Bundy, Zoe Mailloux, Susanne Smith Roley, Teresa A. May-Benson, L. Diane Parham

Department of Occupational Therapy Faculty Papers

Background: Children and youth often have challenges processing and integrating sensory information. These increasingly common challenges and can significantly impact development, learning, behavior, well-being, and participation in everyday activities. Since children with sensory integration challenges, with or without other concerns, are likely to present first to their primary care provider (PCP), it is important that they have resources about sensory integration challenges and their impact on the child or the need to refer these children for further assessment and intervention. Our aim is to assist PCPs in their clinical decision-making.

Methods: We conducted a narrative review of CINAHL, PsychInfo, and …

Sleep And Sleep Disorders: Much More Than How Long You Sleep, What Truly Matters Is How You Sleep, Teresa Arora, Claudia R.C. Moreno

All Works

Since the discovery of electroencephalography to measure brain activity in 1924, sleep research has rapidly advanced. Contemporary sleep research no longer focuses on the length of sleep and the consequences of sleep loss. Instead, a multitude of sleep parameters, such as sleep duration, quality, irregularity, health, and disordered sleep, now inform the sleep science community about the importance of sleep in relation to health, performance, cognitive, cultural, and clinical outcomes through diverse study designs, equipment, and across a range of populations. This special issue on sleep and its disorders has shown us how diverse and widespread the study of sleep …

The Non-Coding Rna Journal Club: Highlights On Recent Papers-14, El Cheima Mhamedi, Florent Hubé, Suresh K. Alahari, Francisco J. Enguita, Barbara Pardini, Mark W. Feinberg, Laura Poliseno, Beshoy Armanios, Jing Jin, Xiao-Bo Zhong, Nikolaos Sideris, Salih Bayraktar, Leandro Castellano, Gaetano Santulli, Stanislovas S. Jankauskas, Will S. Plewa, Simon J. Conn, Ling Yang, Patrick K. Shiu, Abhishek Kaushik, Alexander Serganov, Gentile, Giuseppe Viglietto, Nicola Amodio, Tijana Mitić, Andrea Caporali

School of Graduate Studies Faculty Publications

The field of non-coding RNA research is advancing at a breathtaking pace, continually uncovering new layers of regulatory complexity and functional diversity [...].

Impact Of Fasting On Granulocyte Chemotactic Protein-2 Chemokine And Lactate Dehydrogenase Enzyme Activity In The Development Of Dental Caries, Ghada I. Taha

Sultan Qaboos University Medical Journal

Objectives: This study aimed to evaluate the impact of fasting on the innate defence mechanism by measuring the granulocyte chemotactic protein-2 levels and the enzymatic activity of the lactate dehydrogenase enzyme in individuals diagnosed with dental caries. Methods: This longitudinal observational study included male and female college students attended teaching dentistry clinics in Baghdad, Iraq. The study took place between November 2023 and May 2024. Unstimulated saliva samples were collected from all participants and the biomarkers granulocyte chemotactic protein-2 and lactate dehydrogenase were detected by enzyme-linked immunosorbent assay kits. Every subject under study underwent a clinical examination by a dentist. …

Atypical Abdominal Pain: Uncovering Malignant Peritoneal Mesothelioma In Suspected Crohn's Disease: A Case Report, Catherine Loehr, Lara Boudreaux, Ann Porter Uhlhorn, Nisha Loganantharaj

School of Medicine Faculty Publications

BACKGROUND: Malignant peritoneal mesothelioma (MPM) is a rare and aggressive cancer from the serosal membranes of the abdominal cavity. In the United States, MPM accounts for about 10-15% of all mesothelioma cases, and translates into approximately 600 new cases diagnosed annually. It is typically diagnosed in Caucasian individuals, and while asbestos exposure is a well-established risk factor for pleural mesothelioma, its association with peritoneal mesothelioma remains less clear. Clinical symptoms of MPM, such as abdominal pain, bloating, and weight loss, overlap with other gastrointestinal disorders, which often leads to delayed diagnosis. This case report presents a unique instance of MPM …

Assessment Of Vector Control Strategies Based On Mass Aedes (Stegomyia) Mosquito Trapping (Agos Traps) Pilot Study In A Us-Mexico Border Region Of South Texas, Jesús A. Aguilar-Durán, Josue Ramírez, Mario A. Rodríguez-Pérez, Christopher J. Vitek, Nadia A. Fernández-Santos, José Guillermo Estrada-Franco

School of Integrative Biological & Chemical Sciences Faculty Publications

Background: Aedes (Stegomyia) aegypti and Ae. (Stegomyia) albopictus mosquitoes are major vectors of diseases including dengue, Zika, chikungunya, and yellow fever. The excessive use of chemical insecticides has caused resistance in mosquito populations, along with negative environmental impacts and harm to non-target organisms. In this regard, mosquito control strategies, such as passive mass trapping interventions with autocidal gravid ovitraps (AGO) offer a promising alternative. Here we report the results of a pilot study evaluating a passive mass trapping treatment using AGOs against Ae. aegypti in the city of Harlingen, Texas, USA, during the peak mosquito season.

Methodology: Three treatments were …

Understanding Tobacco Use Among Bangladeshi Men: A Socio-Demographic Analysis Of Risk Factors, Md. Rashedus Salekin Sabbir, Helal Uddin, Md Shazid Hossain Shohan

Indonesian Journal of Public Health Nutrition (IJPHN)

Tobacco consumption remains a major public health concern in Bangladesh, where adult males represent the most affected group. Despite existing bans on public smoking, cultural norms, media influence, and limited awareness continue to sustain high prevalence. The objective of this study was to examine the socio-demographic determinants of tobacco use among Bangladeshi men, focusing on regional variation, education, media exposure, and family influence. A cross-sectional survey was conducted among 275 adult males in Dhaka Division using a structured questionnaire. Data was analyzed through descriptive statistics, chi-square tests, and binary logistic regression to identify significant predictors of tobacco consumption. Findings reveal …

Proportion Of Chronic Energy Deficiency In Relation To Macronutrient Intake And Other Determinants Among Pregnant Women In Selected Community Health Center Service Areas In Bogor 2025, Fathimah Afliansa, Ratu Ayu Dewi Sartika, Diah Mulyawati Utari, Suparno Suparno

Indonesian Journal of Public Health Nutrition (IJPHN)

The prevalence of chronic energy deficiency (CED) among pregnant women in Indonesia remains relatively high, ranging from 11.6% to 57.6%. This study aimed to examine the differences in the proportion of CED based on macronutrient intake and related factors. The study used a quantitative cross-sectional design with secondary data involving 124 pregnant women in selected areas served by community health centers in Bogor City and Regency. Data were analyzed using the chi-square test. CED prevalence was 11.3% in the overall areas, with 10.9% in Bogor City and 11.7% in Bogor Regency. Significant differences in the CED proportion were found based …

Reframing Nutrition Policy For Under-Five Children In Thailand: Beyond The First 1,000 Toward 2,500 Days, Saipin Chotivichien, Waraporn Jitaree, Wareethip Phuengpan, Saiyed M. Hyder

Indonesian Journal of Public Health Nutrition (IJPHN)

Malnutrition continues to threaten child health globally, with Thailand mirroring this trend: in 2022, 12.4% of children under five were stunted, 7.2% wasted, and 10.9% obese. While the country’s First 1,000 Days initiative—targeting pregnancy to age two—yielded early success in reducing undernutrition, emerging gaps among 3–5-year-olds prompted a policy shift toward a broader 2,500-day framework. This approach, launched in 2022, extends care from preconception through age five and integrates multisectoral action involving five key ministries. Anchored in the “Power of Three Pillars”—policy, partnerships, and resources—the initiative strengthens local governance, enhances service delivery, and fosters family and community engagement through sub-district …

Safety And Efficacy Of Liver-Directed Radiotherapy After Chemoimmunotherapy For Advanced Cholangiocarcinoma: An Early Report From A Large Tertiary Cancer Center, Abdulmoiz Asif, Abdulmoid Asif, Michael K Rooney, Enoch Chang, Felicity Namayanja, Kimana Quentin, Sunyoung Lee, Ian Hu, Vincent Bernard, Prajnan Das, Emma B Holiday, Sonal Noticewala, Grace L Smith, Albert C Koong, Ethan B Ludmir, Milind Javle, Lianchun Xiao, Eugene J Koay

Faculty, Staff and Student Publications

BACKGROUND: Recent randomized controlled trials have established chemoimmunotherapy as the standard of care for patients with advanced biliary cancers with a median overall survival (OS) of about thirteen months. No data exist to demonstrate the safety and efficacy of liver-directed radiotherapy (RT) for extrahepatic and intrahepatic cholangiocarcinoma (CCA) in the era of chemoimmunotherapy. The purpose of this study is to report our early experience treating patients with CCA using RT and chemoimmunotherapy.

METHODS: Twenty-eight patients with CCA who received chemoimmunotherapy sequentially and/or concurrently with RT were retrospectively analyzed. The median biologic equivalent dose (BED) of RT was 84.0 [interquartile range …

Causal Predictive Modeling Of Survival Of Lung And Bronchus Cancer Patients Diagnosed During 2010–2011 In Texas, Zeinab Mohamed, Sidketa Fofana, Everardo Cobos, Manish K. Tripathi, Tamer Oraby

School of Mathematical & Statistical Sciences Faculty Publications

Background: Lung and Bronchus cancer is the most fatal type of cancer in the United States. According to the American Cancer Society, there were more than 127,000 deaths from lung cancer in 2023. Lung cancer care cost 23.8 billion dollars in 2020. In Texas, only 22.8% of lung cancer patients survived 5 years or more past diagnosis based on 2012-2018 data.

Aim: This study evaluates the survival length of lung and bronchus cancer patients in Texas using advanced statistical and machine learning methods applied to an 11-year cohort study from Surveillance, Epidemiology, and End Results Program. It also quantifies the …

The Relationship Between Anemia, Chronic Energy Deficiency, Knowledge, And Other Factors And Anc Attendance Among Pregnant Women In Bogor City And Regency 2025, Winfried Ichtussend Hartnajaya Chrisna, Ratu Ayu Dewi Sartika, Nurul Dina Rahmawati, Daden Setiawan

Indonesian Journal of Public Health Nutrition (IJPHN)

Antenatal Care (ANC) is a comprehensive health service to optimize pregnancy outcomes. In 2023 in Bogor City, the ANC K6 coverage rate has reached the target (98.63%), but this is not the case with the coverage in Bogor Regency (62.25%). ANC visits that do not reach the standard can be influenced by predisposing factors, supporting factors, and health needs factors. The inequality that occurs can hinder efforts to reduce maternal mortality. This study aims to determine the relationship between knowledge and other factors with ANC visits in Bogor City and Regency in 2025. This study is quantitative with a cross-sectional …

Determinants Of Abdominal Obesity In Adults (19 – 44 Years Old) In Riau Islands Province (Analysis Of Ski 2023 Data), Hanifah Mulia Rachman, Triyanti Triyanti, Ratu Ayu Dewi Sartika, Kusharisupeni Djokosujono

Indonesian Journal of Public Health Nutrition (IJPHN)

Abdominal obesity is a condition characterized by excessive fat accumulation in the abdominal region, which can increases the risk of type 2 diabetes mellitus, dyslipidemia, hypertension, and cardiovascular diseases. In 2023, Riau Islands Province recorded the highest prevalence of abdominal obesity in the island of Sumatra, at 42.5%. This study aimed to analyze the determinants of abdominal obesity among adults aged 19–44 years in Riau Islands Province based on gender, using secondary data from the 2023 Indonesia Health Survey (SKI). A total of 3,466 respondents were analyzed using chi-square tests and multiple logistic regression. The results showed that the prevalence …

Perceived Benefits And Side Effect Of High-Fiber, High-Protein Meal Replacements In Weight Loss Programs, Esti Nurwanti, Harry Fl Muhammad, Naufal M. Nurdin

Indonesian Journal of Public Health Nutrition (IJPHN)

Obesity is a major risk factor for chronic diseases and early mortality. Although dietary counseling is essential in managing obesity, maintaining a calorie deficit and preventing weight regain remain difficult. Functional foods like high-protein, high-fiber meal replacements may enhance adherence and support weight loss. This randomized controlled trial evaluated the subjective outcomes of a weight loss program incorporating a protein- and fiber-enriched meal replacement among 73 overweight women aged 20–30 years. Participants were randomized to an intervention group (n=38), receiving dietary counseling plus one daily meal replacement, or a control group (n=35), receiving counseling alone. Both groups followed an 8-week …

Analysis Of Macronutrient Content, Antioxidant Activity, And Organoleptic Quality Of Snack From Jackfruit Seed Flour (Artocarpus Heterophyllus) And Pigeon Pea Flour (Cajanus Cajanus) As A Snack For Patients With Type 2 Diabetes Mellitus, Maya Siwi Tri Nugroho Heni, Tesa Rafkhani

Indonesian Journal of Public Health Nutrition (IJPHN)

Type 2 diabetes mellitus characterized by chronic hyperglycemia and oxidative stress. Snack bars with functional ingredients such as legumes may help regulate blood glucose levels. Jackfruit seeds and pigeon peas are sources of protein, complex carbohydrates, and bioactive compounds. This study aimed to analyze macronutrient content, antioxidant activity, and organoleptic quality of jackfruit seeds and pigeon pea flour snack bars. This study used a completely randomized design (CRD) one factor with two replications. The proportions of jackfruit seeds and pigeon pea flour are: F1 (30%:70%), F2 (40%:60%), F3 (50%:50%). Macronutrient content was analyzed using proximate analysis, antioxidant activity using the …

Runx2 Cooperates With Srebp1 To Rewire Cancer Metabolism And Promote Aggressiveness, Emanuele Vitale, Mila Gugnoni, Veronica Manicardi, Silvia Muccioli, Federica Torricelli, Benedetta Donati, Simonetta Piana, Gloria Manzotti, Elisa Salviato, Francesca Reggiani, Cristian Ascione, Rebecca Vezzani, Moira Ragazzi, Mattia Forcato, Oriana Romano, Silvio Bicciato, Aaron Goldman, Marco Tigano, Alessia Ciarrocchi

Department of Pathology, Anatomy, and Cell Biology Faculty Papers

Embryonic Transcription Factors (TFs) are often reactivated in cancer, driving developmental gene programs that support phenotypic plasticity. Metabolic adaptation fuels this plasticity by supplying energy and molecular building blocks for growth. RUNX2, the master regulator of bone morphogenesis, is ectopically expressed in epithelial cancer, promoting metastasis through trans-differentiation processes like Epithelial-to-Mesenchymal Transition (EMT) and osteomimicry. By combining omics data with functional validation, we demonstrated that RUNX2 drives cancer cell metabolic rewiring by repressing mitochondrial respiration while promoting anabolic processes. We showed that RUNX2 upregulates key genes of lipid biosynthesis by regulating and cooperating with SREBP1. In vivo expression analysis in …

Induction Of Myelopoiesis By Candida Dubliniensis Drives Protective Trained Immunity Against Sepsis In A Card9-Dependent Manner, Shannon Esher Righi, Elizabeth A. Lilly, Amanda J. Harriett, Patrick W. Daly, Maryjane Jones, Chad Steele, Mairi C. Noverr, Paul L. Fidel

School of Dentistry Faculty Publications

Trained immunity is a long-term functional reprogramming of innate cells that allows for the formation of immune memory akin to adaptive responses, but with a more rapid nonspecific response. We recently identified an anti-inflammatory trained immunity response, termed trained tolerogenic immunity (TTI), induced by low virulence Candida dubliniensis, that protects against acute lethal polymicrobial sepsis via myeloid-derived suppressor cells (MDSCs). Trained immunity and MDSCs arise following hematopoietic stem and progenitor cell (HSPC) expansion in the bone marrow. Here, we show that C. dubliniensis induces inoculum-dependent protection and HSPC expansion, whereas depletion of HSPCs following C. dubliniensis immunization abrogates protection. We …

Urinary Vitamin D Binding Protein And Kidney Injury Molecule-1 Are Potent Predictors Of Acute Kidney Injury After Left Ventricular Assist Device Implantation, Shiyi Li, Iván Murrieta-Álvarez, Katherine V Nordick, Zachary Gray, Camila Hochman-Mendez, Alexis E Shafii, Kenneth K Liao, Carl P Walther, Nandan K Mondal

Faculty, Staff and Students Publications

Background/Objectives: Acute kidney injury (AKI) is a frequent and serious complication following left ventricular assist device (LVAD) implantation. This study aimed to predict AKI within 90 days post-LVAD by evaluating urinary levels of vitamin D binding protein (VDBP) and kidney injury molecule-1 (KIM-1).

Methods: We prospectively enrolled 29 advanced heart failure patients undergoing LVAD implantation and categorized them into four groups based on pre-LVAD kidney function and hemodynamic stability. Early-morning urine samples were collected 24 h before and 1 week after surgery. Urinary VDBP and KIM-1 levels, normalized to creatinine, were measured.

Results: Thirteen patients developed AKI …

Pediatric Non-Down Syndrome Acute Megakaryoblastic Leukemia Patients Have Dismal Outcomes Irrespective Of Allogeneic Hematopoietic Stem Cell Transplant: A Single-Center Experience, Gabriela Llaurador, Matthew Willis, Michele S Redell, M Monica Gramatges, Andrea N Marcogliese, Swati Naik, Robert Krance, Erin Doherty, Alexandra M Stevens

Faculty, Staff and Students Publications

Background: Pediatric non-Down Syndrome Acute Megakaryoblastic Leukemia (non-DS-AMKL) is a rare subtype of Acute Myeloid Leukemia (AML) arising from primitive megakaryocytes and is associated with poor outcomes. Given its high incidence of relapse, this subpopulation of children is frequently referred for allogeneic hematopoietic stem cell transplant (allo-HSCT) in first complete remission (CR1).

Objectives: The objective of this study was to describe the clinical outcomes of non-DS-AMKL pediatric patients in a large, single-institution cohort.

Methods: A retrospective review of the medical records of thirty-six patients diagnosed with non-DS-AMKL treated at Texas Children's Hospital from 2000 to 2022 was conducted.

Results: Twenty-nine …

Resolving Slc6a1 Variable Expressivity With Deep Clinical Phenotyping And Drosophila Models, Kristy L Jay, Nikhita Gogate, Paige I Hall, Kimberly M Ezell, Jonathan C Andrews, Sharayu V Jangam, Hongling Pan, Kelvin Pham, Ryan German, Vanessa Gomez, Emily Jellinek-Russo, Eric A Storch, Brain Gene Registry Consortium, Undiagnosed Diseases Network, Shinya Yamamoto, Oguz Kanca, Hugo J Bellen, Herman A Dierick, Joy D Cogan, John A Phillips, Rizwan Hamid, Thomas Cassini, Lynette Rives, Sumit Pruthi, Hua-Chang Chen, Jennifer E Posey, Michael F Wangler

Faculty, Staff and Students Publications

Variants in SLC6A1 result in a rare neurodevelopmental disorder characterized by a variable clinical presentation of symptoms including developmental delay, epilepsy, motor dysfunction, and autism spectrum disorder. SLC6A1 haploinsufficiency has been confirmed as the predominant pathway of SLC6A1-related neurodevelopmental disorder (SLC6A1-NDD); however, the molecular mechanism underlying the variable clinical presentation remains unclear. Here, through work of the Undiagnosed Diseases Network, we identify an individual with an inherited p.A334S variant of uncertain significance. To resolve this variant and better understand the variable expressivity associated with SLC6A1, we assess the phenotypes of the proband in comparison with a cohort of 13 individuals …