Digital Commons Network^™

From Trials To Practice: Implementing A Clinical Intervention In Community Settings, Elizabeth M Vaughan, Xiaoying Yu, Victor J Cardenas, Craig A Johnston, Salim S Virani, Ashok Balasubramanyam, Christie M Ballantyne, Aanand D Naik

Faculty, Staff and Students Publications

Introduction/objectives: Diabetes increases the risk of complications, especially for vulnerable populations. Our previous randomized clinical trial (RCT), TIME (Telehealth-supported, Integrated Community Health Workers (CHWs), Medication access, group visit Education), showed the efficacy of CHW-led diabetes care. This study aimed to gather data on transitioning TIME from clinical trials to practical implementation.

Methods: We conducted a 12-month RCT at a nonprofit community clinic using the Consolidated Framework for Implementation Research (CFIR). Participants, Hispanic adults without insurance and with type 2 diabetes (N = 58; 29/arm), were randomized to TIME (intervention) or usual care (control). The intervention included monthly group visits and …

What Is The Robustness Of Randomized Controlled Trials Supporting Rhinosinusitis Guidelines?, Najm S Khan, Aatin K Dhanda, Masayoshi Takashima, Richard Liu, Yuki Yoshiyasu, Wenbo Wu, Whitney Jin, Edward D Mccoul, Murugappan Ramanathan, Omar G Ahmed

Faculty, Staff and Students Publications

Purpose: To determine the robustness of randomized controlled trials (RCTs) supporting the current rhinosinusitis guideline; International Consensus Statement on Allergy and Rhinology: rhinosinusitis (ICAR-RS).

Materials & methods: RCTs referenced by ICAR-RS with primary dichotomous outcomes were analyzed. The Fragility Index (FI) was calculated for trials with statistically significant findings. Trial characteristics, the FI, and FI minus number lost to follow-up (LTF) were assessed for associations.

Results: A total of 317 RCTs were identified, with 38 trials possessing a primary dichotomous outcome. Thirty-one percent evaluated surgical interventions and 24 % were industry-sponsored. The mean sample size was 116 with 9 patients, …

Developing An Annual Review Of The Literature, Weinstein R Amy, Szauter Karen, Duca Nicholas, Jacob Jackcy, Ismail Nadia, Pincavage Amber, Walsh Katherine, Alexandraki Irene

Faculty, Staff and Students Publications

Many national meetings and speaker series feature an "Annual Review of the Literature" (ARL) session in which an individual or team presents a sampling of articles, selected and prepared because they represent important current topics or new ideas in the discipline of interest. Despite this, there is little in the medical literature describing how to thoughtfully and systematically develop these sessions. We identify best practices that we have developed and used in the United States Clerkship Directors of Internal Medicine (CDIM) over many years. These include identification of a theme, team assembly, timeline development, search strategy and rubric development and …

External Validation Of A Novel Cancer-Associated Venous Thromboembolism Risk Assessment Score In A Safety-Net Hospital, Karlynn N Dulberger, Jennifer La, Ang Li, Saran Lotfollahzadeh, Asha Jose, Nhan V Do, Mary T Brophy, J Michael Gaziano, Katya Ravid, Vipul C Chitalia, Nathanael R Fillmore

Faculty, Staff and Students Publications

Background: Cancer-associated thrombosis (CAT) is a leading cause of death in patients diagnosed with cancer. However, pharmacologic thromboprophylaxis use in cancer patients must be carefully evaluated due to a 2-fold increased risk of experiencing a major bleeding event within this population. The electronic health record CAT (EHR-CAT) risk assessment model (RAM) was recently developed, and reports improved performance over the widely used Khorana score. Extensive RAM external validation is crucial to determine accuracy across diverse patient populations prior to clinical utilization.

Objectives: To externally validate EHR-CAT using data from 2103 patients with cancer at the Boston Medical Center (BMC), New …

Promotion Of Hiv Clearance By Sensitization Of Hiv Reservoirs To Cell Death, Min Li, Baichao Sun, Jing Dong, Jian-Rong Li, Laurie J Minze, Min Chen, Chao Cheng, Jin Wang

Faculty, Staff and Students Publications

Introduction: HIV integrates its proviral DNA into the host genome to establish persistent infection. To promote HIV clearance, we have designed an approach for selective elimination of host cells harboring replication-competent HIV (SECH), through inhibition of autophagy and anti-apoptotic molecules during viral reactivation. SECH approach can clear HIV-infected cells in approximately 50% humanized mice. However, the mechanisms for the resistance of reservoirs to depletion in mice with failure in HIV clearance are unclear.

Methods: We have performed single cell transcriptome analyses of HIV-infected T cells that escaped the treatments, in order to identify cellular pathways that could be targeted to …

Tobacco Exposure Linked To Warthin’S Tumor Being The Most Common Benign Parotid Neoplasm In Veterans: A Retrospective Cohort Study, Louis Abarca, Linda K Green, Ray Y Wang, Vlad C Sandulache, David J Hernandez

Faculty, Staff and Students Publications

Objective: Parotid gland neoplasms account for a large proportion of benign salivary gland tumors, with pleomorphic adenomas (PA) being the most common in the civilian population, followed by Warthin's tumor (WT). However, the distinct risk profiles of Veterans significantly influence the incidence and prevalence of salivary gland neoplasms. We investigated the diagnostic and management algorithms for benign parotid gland neoplasms in Veterans.

< >Methods: Retrospective cohort study. Descriptive statistics were calculated using Microsoft Excel. Categorical variables were compared using chi square tests, and were reported with 95% confidence intervals, with statistical significance set at P <  .05.

Results: The study included 158 patients …

Genetic Landscape Of Hypertrophic Cardiomyopathy In Hong Kong Chinese Population, Derek P H Lee, Ye Cao, Lilei Zhang

Faculty, Staff and Students Publications

Introduction: Asian populations are underrepresented in the hypertrophic cardiomyopathy (HCM) genomic databases, which are currently largely dominated by Caucasian population. We aim to characterize the genetic landscape of HCM in patients from Hong Kong Chinese population.

Methods: From March 2023 to March 2024, fifty-three unrelated patients with an unequivocal clinical diagnosis of HCM were enrolled at a single tertiary center in Hong Kong and underwent genetic testing using a standardized 19-gene panel.

Results: In this cohort study, we identified 13 patients (24.5%) with a predominant pathogenic or likely pathogenic (P/LP) variant and 12 patients (22.6%) with a predominant variant of …

Refining The Interpretation Of Variants Of Uncertain Significance In Hereditary Cancer Screening Through Integrated Rna Sequencing, Youbao Sha, J Bryce Ortiz, Sara L Bristow, Kate Loranger, Linyan Meng, Xiaonan Zhao, Fan Xia, Sheetal Parmar, Adam C Elnaggar, Wenbo Xu

Faculty, Staff and Students Publications

Purpose: Although up to 25% of germline variants are predicted to affect splicing, most are classified as variants of uncertain significance (VUS) because of the limited understanding of their functional consequences. Here, we investigated the impact of RNA sequencing (RNA-seq) data on the ability to resolve splicing-related VUS.

Methods: Patients with VUS predicted to alter splicing identified through commercial hereditary cancer testing between October 2021 to July 2023 were included. RNA-seq was used to compare splicing patterns between patient blood samples and normal controls. VUS reclassification rates were calculated.

Results: In total, 411 VUS in 52 genes predicted to affect …

Folate Receptor Β Performs An Immune Checkpoint Function In Activated Macrophages, Fenghua Zhang, Md Yusuf Al-Amin, Sagar Utturkar, Rina Jiang, Gregory Cresswell, Rami Alfar, Ian Ophaug-Johansen, Gabriel Bachman, Madduri Srinivasarao, Richard Finnell, Amaya Puig-Kröger, Timothy Ratliff, Philip S Low

Faculty, Staff and Students Publications

Monocytes and macrophages are sentinels of the immune system that distinguish themselves from other cells by expressing the beta isoform of the folate receptor (FRβ). Because FRβ does not bind folate until the monocyte/macrophage is exposed to immunosuppressive cytokines, the question naturally arose whether FRβ might also perform an immune-related function. To examine this matter, we compared the properties of wild type (WT) and FRβ knockout mice. We observe that FRβ knockout (KO) mice display autoimmune symptoms that can include alopecia, enlarged spleens, and dermatitis, despite having normal cellular folate levels. We further demonstrate that syngeneic tumors (TRAMP C2, MC38) …

Med12 Loss-Of-Function Variants As A Cause Of Congenital Diaphragmatic Hernia In Females With Hardikar Syndrome And Nonspecific Intellectual Disability, Eric C Kao, Elizabeth A Mizerik, Carlos A Bacino, Hongzheng Dai, Liesbeth Vossaert, Daryl A Scott

Faculty, Staff and Students Publications

Mediator complex subunit 12 (MED12) is required for the assembly of the kinase module of Mediator, a regulatory complex that controls the formation of the RNA polymerase II-mediated preinitiation complex. MED12-related disorders display unique gender-specific genotype-phenotype associations and include X-linked recessive Opitz-Kaveggia syndrome, Lujan-Fryns syndrome, Ohdo syndrome, and nonspecific intellectual disability in males predominantly carrying missense variants, and X-linked dominant Hardikar syndrome and nonspecific intellectual disability in females known to predominantly carry de novo nonsense/frameshift and nonsense/missense variants, respectively. MED12 was previously identified as a low-penetrance candidate gene for non-isolated congenital diaphragmatic hernia (CDH+). At the time, however, there was …

Bayesian Covariate-Dependent Circadian Modeling Of Rest-Activity Rhythms, Beniamino Hadj-Amar, Vaishnav Krishnan, Marina Vannucci

Faculty, Staff and Students Publications

We propose a Bayesian covariate-dependent anti-logistic circadian model for analyzing activity data collected via wrist-worn wearable devices. The proposed approach integrates covariates into the modeling of the amplitude and phase parameters, facilitating cohort-level analysis with enhanced flexibility and interpretability. To promote model sparsity, we employ an l1-ball projection prior, enabling precise control over complexity while identifying significant predictors. We assess performances on simulated data and then apply the method to real-world actigraphy data from people with epilepsy. Our results demonstrate the model’s effectiveness in uncovering complex relationships among demographic, psychological, and medical factors influencing rest-activity rhythms, offering insights for …

Epilepsy Clinic Analytics: Leveraging Emr Reporting Tools To Characterize Center Volume And Complexity, Vanuli Arya, Arindam Ghosh Mazumder, Muna Nnamani, Mark A Abboud, Samuel C Lee, Michael S Guzman, Vaishnav Krishnan

Faculty, Staff and Students Publications

Introduction: Epilepsy centers connect patients to multidisciplinary provider groups that can coordinate surgical interventions and/or investigational treatments. Automated techniques to cross-sectionally review patient volume and complexity may reveal objective metrics to assign appropriate personnel and resources. Here, we leveraged an electronic medical record (EMR) reporting tool to examine how patient and visit volumes, antiseizure medication (ASM) prescriptions and neuromodulation use evolved over an 11-year epoch at a single level 4 adult epilepsy center in Texas, USA.

Methods: Using Epic Workbench Reporting, we acquired the dates of (i) all clinic visits (office or telemedicine), (ii) CPT codes for neuromodulation interrogation/programming, and …

Cadherin 1 Germline Mutation Co-Occurs With Medullary Thyroid Cancer And Choroid Plexus Papilloma: A Case Report And Review Of Literature, Vijay Nitturi, Sricharan Gopakumar, Hsiang-Chih Lu, Akash J Patel

Faculty, Staff and Students Publications

Background: We describe the case of a 23-year-old woman with a history of medullary thyroid cancer (MTC) who presented with a choroid plexus papilloma (CPP) and review the literature regarding the co-occurrence of these two pathologies.

Case description: A 23-year-old woman with a history of MTC treated with thyroidectomy 3 months prior was referred to neurosurgery with an incidental fourth ventricular mass found on prior imaging of her neck. She presented to the clinic with intermittent headaches and underwent MRI which demonstrated a hyperintense, heterogeneously enhancing lobular mass at the obex of the fourth ventricle. She underwent suboccipital craniotomy and …

Defining Dysphoric Milk Ejection Reflex: Using Premenstrual Dysphoric Disorder As A Framework For Proposing Preliminary Diagnostic Criteria, Megan Howard, Teni Davoudian, Nicole H Cirino

Faculty, Staff and Students Publications

Dysphoric Milk Ejection Reflex (D-MER) is a distinct neurobiological condition characterized by negative alterations in mental state in response to milk letdown during lactation. Symptoms vary by patient and can include feelings of sadness, anxiety or agitation. Importantly, the symptoms are brief, typically lasting no more than 5 minutes. Prevalence has been found between 6 and 27% of lactating women, but studies show heterogeneity, due in part to inconsistent definition. D-MER is not currently classified in the Diagnostic and Statistical Manual of Mental Disorders (DSM) or the International Classification of Diseases (ICD), which presents a challenge for researchers of the …

Toward Precision Longevity: Aging Interventions In The Single-Cell Atlas Era, Jason B Chen, Miranda C Wang, Shangyu Gong, Hongjie Li

Faculty, Staff and Students Publications

With growing global interest in extending not only lifespan but also healthspan, healthy aging has emerged as a central goal in biomedical research. This review provides an overview of current longevity interventions, including genetic manipulations, dietary restriction, exercise, pharmacological treatments, targeting senescence and cellular reprogramming strategies, as studied in key model organisms such as Caenorhabditis elegans, Drosophila melanogaster, and Mus musculus. We examine the limitations and challenges associated with these approaches, particularly their variability across tissues and cell types. Furthermore, we emphasize the critical role of single-cell aging atlas technologies in uncovering cell-type–specific aging patterns and molecular …

Interleukin-15-Armoured Gpc3 Car T Cells For Patients With Solid Cancers, David Steffin, Nisha Ghatwai, Antonino Montalbano, Purva Rathi, Amy N Courtney, Azlann B Arnett, Julien Fleurence, Ramy Sweidan, Tao Wang, Huimin Zhang, Prakash Masand, John M Maris, Daniel Martinez, Jennifer Pogoriler, Navin Varadarajan, Sachin G Thakkar, Deborah Lyon, Natalia Lapteva, Mei Zhuyong, Kalyani Patel, Dolores Lopez-Terrada, Carlos A Ramos, Premal Lulla, Tannaz Armaghany, Bambi J Grilley, Stephen Gottschalk, Gianpietro Dotti, Leonid S Metelitsa, Helen E Heslop, Malcolm K Brenner, Pavel Sumazin, Andras Heczey

Faculty, Staff and Students Publications

Interleukin-15 (IL15) promotes the survival of T lymphocytes and enhances the antitumor properties of CAR T cells in preclinical models of solid neoplasms in which CAR T cells have limited efficacy1-4. Glypican-3 (GPC3) is expressed in a group of solid cancers5-10, and here we report the first evaluation in humans of the effects of IL15 co-expression on GPC3-CAR T cells. Cohort 1 patients (NCT02905188/NCT02932956) received GPC3-CAR T cells, which were safe but produced no objective antitumor responses and reached peak expansion at two weeks. Cohort 2 patients ( …

Evaluation Of Methotrexate Pharmacogenomic Variation To Predict Acute Neurotoxicity In Children With Acute Lymphoblastic Leukemia, Rachel D Harris, Olga A Taylor, M Monica Gramatges, Amy E Hughes, Mark Zobeck, Sandi Pruitt, M Brooke Bernhardt, Ashley Chavana, Van Huynh, Kathleen Ludwig, Laura Klesse, Kenneth Heym, Timothy Griffin, Rodrigo Erana, Juan Carlos Bernini, Ashley Choi, Yuu Ohno, Melissa A Richard, Alanna C Morrison, Han Chen, Bing Yu, Philip J Lupo, Karen Rabin, Michael E Scheurer, Austin L Brown

Faculty, Staff and Students Publications

BACKGROUND: Methotrexate is an important component of curative therapy in childhood acute lymphoblastic leukemia (ALL), but the role of genetic variation influencing methotrexate clearance and transport in toxicity susceptibility in children with ALL is not well established. Therefore, we evaluated the association between suspected methotrexate pharmacogenomic variants and methotrexate-related neurotoxicity.

METHODS: This study included children (aged 2-20 years) diagnosed with ALL (2005-2019) at six treatment centers in the southwest United States. Clinical information was abstracted from medical records. Suspected neurotoxic events occurring within 21 days of intravenous and/or intrathecal methotrexate delivered between the end of induction and start of maintenance …

Designing And Implementing Solution-Oriented Team Science Initiatives-A Chronic Pain Example, Nele A Haelterman, Armen N Akopian, Kyle D Allen, Yenisel Cruz-Almeida, Christopher R Donnelly, Brendan Lee, Rebecca Lenzi, Anne-Marie Malfait, Marie Mancini, Maryann E Martone, Joost B Wagenaar, Kim C Worley

Faculty, Staff and Students Publications

Large, collaborative projects that combine researchers from multiple scientific disciplines have become an integral part of the scientific endeavor. While transdisciplinary team science projects hold great potential, they also come with a unique set of challenges compared to monodisciplinary projects. The Science of Team Science (SciTS) field has developed multiple conceptual models and frameworks that guide the design, implementation, and evaluation of team science initiatives to maximize their potential for making breakthrough discoveries and creating solutions for complex problems. While these conceptual models contain a trove of valuable information for successful team science, guidance on how to effectively implement them …

Nanoparticle Contrast Agents For Photon-Counting Computed Tomography: Recent Developments And Future Opportunities, Laxman Devkota, Rohan Bhavane, Cristian T Badea, Eric A Tanifum, Ananth V Annapragada, Ketan B Ghaghada

Faculty, Staff and Students Publications

The clinical availability of photon-counting computed tomography (PCCT) has ushered in a new era of CT imaging. Spectral imaging coupled with superior contrast resolution, and ultrahigh spatial resolution (200 μm) offered by PCCT has the potential to revolutionize value-driven imaging. The potential of multicolor PCCT has generated excitement, and renewed interest, in novel contrast agent development for comprehensive disease interrogation, prediction and monitoring of treatment outcomes. Nanoparticles provide a versatile and powerful platform for the development of next generation contrast agents for spectral PCCT. In this article, we review recent developments and use of nanoparticle contrast agents for PCCT. We …

Initiating Insulin Pumps In Youth With New-Onset Type 1 Diabetes: A Quality Improvement Initiative, Mili Vakharia, Sarah K Lyons, Don Buckingham, Mark Rittenhouse, Siripoom Mckay, Rona Sonabend, Grace Kim

Faculty, Staff and Students Publications

Introduction: Insulin pump therapy is recommended for youth with type 1 diabetes (T1D) as it enhances quality of life and improves glycemic management. We led a quality improvement initiative to increase insulin pump use in youth younger than 18 years of age with recently diagnosed T1D (duration < 1 y) from a baseline of 17% to 27% from January 2021 to December 2023. As a balancing measure, we evaluated the diabetes-related ketoacidosis (DKA) rate in the same cohort as nonpump users.

Methods: We implemented the following plan-do-study-act cycles: (1) development and implementation of pump initiation algorithm, including minimal safe start criteria and education on ketosis management with pump action plan, (2) establishing clinic follow-up within 90 days of pump start, (3) expansion of the pump algorithm at additional clinic locations, (4) early patient/caregiver education …

Comment On “Effectiveness And Safety Of Oral Vancomycin For The Treatment Of Inflammatory Bowel Disease Associated With Primary Sclerosing Cholangitis: A Systematic Review And Pooled Analysis”, Richard Kellermayer, Peter Lewindon, Cynthia Buness, James Tabibian, Kevin Johnson, Shamita Shah, Parambir Dulai, Ahmad H Ali, Ayesha Shah, Gerald Holtmann, Harland S Winter

Faculty, Staff and Students Publications

No abstract provided.

Risk Scores For Choledocholithiasis Perform Poorly In Patients With Hemolytic Diseases: A Pedi Database Report, Jennifer Thompson, Wenly Ruan, Douglas S Fishman, Matthew Giefer, Kyung Mo Kim, Mercedes Martinez, Luigi Dall'oglio, Valerio Balassone, Filippo Torroni, Paola De Angelis, Simona Faraci, Cynthia Tsai, Michael Wilsey, Racha Khalaf, Petar Mamula, Quin Liu, Yuhua Zheng, Bradley A Barth, David Michael Troendle

Faculty, Staff and Students Publications

Patients with hemolytic diseases are at increased risk for gallstone-related complications. Modified scoring systems have been developed to assess which pediatric patients would benefit from endoscopic retrograde cholangiopancreatography (ERCP) to treat choledocholithiasis. This study aimed to evaluate the ability of the available criteria to determine which pediatric patients with hemolytic diseases are likely to benefit from ERCP. A secondary analysis was performed using the Pediatric ERCP Database Initiative database, which contains prospectively collected data from 1,124 ERCPs at tertiary-care institutions. We compared patients with a hemolytic disease to those without. Data was analyzed by two-tailed Fisher’s exact test and paired …

The Treatment Naïve Microbiome Of Pediatric Ulcerative Colitis And Microbial Therapeutics: A Humbling Challenge, Richard Kellermayer

Faculty, Staff and Students Publications

No abstract provided.

The Catastrophic Cost Of Tb Care: Understanding Costs Incurred By Individuals Undergoing Tb Care In Low-, Middle-, And High-Income Settings – A Systematic Review, Olivia Alise D'Silva, Samantha Lancione, Oviya Ananthakrishnan, Angelina Addae, Suvesh Shrestha, Hannah Alsdurf, Kednapa Thavorn, Nompumelelo Mzizi, Anca Vasilu, Alexander Kay, Anna Maria Mandalakas, Alice Anne Zwerling

Faculty, Staff and Students Publications

Eliminating the burden of catastrophic costs experienced by individuals undergoing tuberculosis (TB) treatment is one of the World Health Organization (WHO) End TB Strategy targets. To help inform decisions on TB patient burden and cost-effective TB care, we conducted a systematic review to summarize current evidence around the burden of catastrophic costs incurred by individuals undergoing TB treatment and identified the main drivers of costs to aid in developing mitigation strategies. A literature search was performed in August 2024 using Embase, Web of Science, Scopus and Medline targeting studies using WHO, or WHO adapted patient costing questionnaires to measure direct …

Healthcare Providers’ Knowledge, Attitudes, And Perceptions From Using Targeted Sequencing To Diagnose And Manage Drug-Resistant Tuberculosis (Dr-Tb) In Eswatini, Maia Madison, Debrah Vambe, Sein Sein Thi, Mangaliso Ziyane, Nosisa Shiba, Babongile Blisset Nkala, Tara Ness, Agostinho Viana Lima, Sindisiwe Dlamini, Siphiwe Ngwenya, Anna Mandalakas, Alexander Kay

Faculty, Staff and Students Publications

Challenges in diagnosing drug-resistant tuberculosis (DR-TB) contribute to a diagnostic gap. Design-locked Targeted Sequencing (TS) assays have the potential to improve DR-TB diagnosis and management. TS assays are now being introduced into low-income, high TB burden settings. Eswatini is among the first high burden countries to have implemented TS for patient care. To evaluate the impact of the current program and optimize future implementation, we evaluated healthcare provider knowledge, attitudes, and perceptions (KAP) of TS and its implementation. We conducted semi-structured interviews with healthcare providers. Interviews were continued until data saturation was reached and analyzed by directed thematic analysis. The …

Hidden Markov Model For Acoustic Pesticide Exposure Detection And Hive Identification In Stingless Bees, Alex Otesbelgue, Amara Jean Orth, Chandler David Fong, Carol Anne Fassbinder-Orth, Betina Blochtein, Maria João Ramos Pereira

Faculty, Staff and Students Publications

Pollinator populations are declining globally at an unprecedented rate, driven by factors such as pathogens, habitat loss, climate change, and the widespread application of pesticides. Although colony losses remain difficult to prevent, precision beekeeping has introduced non-invasive strategies for monitoring hive conditions. Acoustic data, combined with machine learning techniques, has proven effective in detecting stressors and specific events in honeybee colonies; however, such methodologies remain underexplored for stingless bees, a group of native pantropical pollinators. Meliponiculture, the practice of keeping stingless bees, is an expanding field that offers significant economic and conservation benefits. Stingless bees are particularly susceptible to pesticide …

Recessive Loss-Of-Function Variants In Dph1 Identified As The Molecular Cause In A Sibling Pair Previously Diagnosed With Fine-Lubinsky Syndrome, Emily R Waskow, Lisa T Emrick, Jill A Rosenfeld, Shamika Ketkar, Lindsay C Burrage, Daryl A Scott

Faculty, Staff and Students Publications

Fine-Lubinsky syndrome is a rare clinically defined syndrome sometimes referred to as brachycephaly, deafness, cataract, microstomia, and impaired intellectual development syndrome. Here we provide a clinical and molecular update for a sibling pair diagnosed with Fine-Lubinsky syndrome. An extensive genetic work-up, including chromosomal microarray analysis and quad exome sequencing, was nondiagnostic. However, a research reanalysis of their exome sequencing data revealed that both were homozygous for an intronic c.749+39G>A [NM_001383.6] variant in DPH1. RNAseq analysis performed on RNA from fibroblasts revealed significantly reduced expression of DPH1 transcripts suggestive of abnormal splicing followed by nonsense mediated mRNA decay. Since the …

Clinical Variation In Lowe Syndrome: What And How?, Eileen D Brewer

Faculty, Staff and Students Publications

Lowe syndrome is an X-linked disorder caused by mutations of the OCRL gene which encodes the enzyme inositol polyphosphate-5-phosphatase OCRL (Ocrl1) and is expressed in almost all body cells. Clinical characteristics involve kidney, brain, eye, muscle, bone, teeth, testes, skin and thrombocytes. Clinical phenotypes are heterogenous among families and even among affected boys in the same family. All have kidney disease varying from severe manifestations of Fanconi syndrome to only low molecular weight proteinuria, hypercalciuria and little kidney disease in the first decade of life. All develop chronic kidney disease (CKD) that typically progresses slowly and reaches stages 4–5 after …

Color Development Of Direct Acidified Pork Sausage Containing Alternative Curing And Reducing Agents, Jacob R. Tuell, Harley Francis, Sydney Bentz, Ashley R. Pitti, Morgan L. Denzer, Derico Setyabrata

Animal Science Faculty Publications and Presentations

This study evaluated the inclusion of preconverted alternative cures (celery powder [CELERY], beet powder [BEET]) compared to conventional sodium nitrite (NaNO2 [NITRITE]) formulated to 125 ppm of ingoing nitrite (NO2) in pork sausage acidified with encapsulated citric acid. Formulations included cherry powder (CHERRY) at 1000 ppm as an alternative cure accelerator, conventional sodium erythorbate (ERYTH) at 547 ppm, or no cure accelerator (NONE). The application of a holding period (OVERNIGHT) or not (IMMEDIATE) prior to thermal processing was evaluated. Batches (n = 3) were prepared in a 3 x 3 x 2 factorial arrangement of cures, accelerators, and holding periods. …

Effects Of Variable Nitrogen Fertilization Rates And Dried Distillers Grains Plus Solubles Supplementation On Forage Use, Animal Performance, And Economic Outcomes Of Steer Calves Grazing Winter Wheat Pastures, Cody E. Gruber, Miriam A. Snider, Michelle L. Johnson, Tom Hess, Elizabeth B. Kegley, J. Daniel Rivera, James A. Mitchell, M. Shane Gadberry

Animal Science Faculty Publications and Presentations

With the continued increase of fertilizer prices, stocker cattle producers may utilize alternative management strategies to mitigate costs and extend the grazing season to achieve better utilization of a wheat (Triticum aestivum L.) crop. One potential strategy is to reduce pasture nitrogen (N) fertilization rates combined with animal dietary supplementation. In this 3-year (yr) study, wheat pastures (1.62-hectare (ha)) were stocked at fixed rates of 2.47 and 4.94 steer/ha in the fall and spring respectively. Nitrogen was applied as urea to experimental pastures at three different rates: 1) 100.9 (100N), 2) 134.5 (135N), and 3) 168.1 kg N/ha (168N). These …