Medical Sciences Commons^™

Reducing Diabetic Ketoacidosis Incidence In Children With Type 1 Diabetes Through Wraparound Services At Texas Children's Hospital: The Reach Program, Selorm Dei-Tutu, Fulfilled Ighalo, Pavandeep Rakhra, Rebecca Butler, Amelia Martinez, Kelly Timmons, Don Buckingham, David D Schwartz, Meghan Craven

Faculty, Staff and Students Publications

Quality Improvement Success Stories are published by the American Diabetes Association in collaboration with the American College of Physicians and the National Diabetes Education Program. This series is intended to highlight best practices and strategies from programs and clinics that have successfully improved the quality of care for people with diabetes or related conditions. Each article in the series is reviewed and follows a standard format developed by the editors of

Treatment Of Rapid Recurrence Of Severe Steatosis With Combined Glucagon-Like Peptide-1 Agonist And Growth Hormone Therapy In A Pediatric Patient Transplanted For Metabolic Dysfunction-Associated Steatohepatitis Cirrhosis In The Setting Of Hypopituitarism, Stephanie R Saaybi, Henry Shiau, Goo Lee, Babak John Orandi, Luz Helena Gutierrez Sanchez

Faculty, Staff and Students Publications

The association between hypopituitarism and metabolic dysfunction-associated steatotic liver disease is increasingly recognized, although data about therapies targeting recurrence posttransplant is limited. An 8-year-old with hypopituitarism-associated metabolic dysfunction-associated steatotic liver disease underwent a liver transplant due to rapid progression of metabolic dysfunction-associated steatohepatitis. Hepatosteatosis recurred within weeks. Her therapeutic plan included a glucagon-like peptide-1 agonist and growth hormone replacement. Her transaminases normalized in 2.5 months, and her macrosteatosis significantly improved on the 1-year surveillance biopsy. This case highlights one of the youngest reported children with hypopituitarism to have undergone transplantation for rapidly progressing metabolic dysfunction-associated steatohepatitis and its recurrence post-operatively. …

Tau Depletion Diminishes Vascular Amyloid-Related Deficits In A Mouse Model Of Cerebral Amyloid Angiopathy, Nur Jury-Garfe, Enrique Chimal-Juárez, Henika Patel, Jonathan Martinez-Pinto, Kathryn Vanderbosch, Muriel D Mardones, Abigail Perkins, Gonzalo Viana Di Prisco, Yamil Marambio, Ruben Vidal, Brady K Atwood, Cristian A Lasagna-Reeves

Faculty, Staff and Students Publications

Introduction: Tau is essential for amyloid beta (Aβ)-induced synaptic and cognitive deficits in Alzheimer's disease (AD), making its downregulation a therapeutic target. Cerebral amyloid angiopathy (CAA), a major vascular contributor to cognitive decline, affects over 90% of patients with AD. This study explores the impact of tau downregulation on CAA pathogenesis.

Methods: We crossed the Familial Danish Dementia mouse model (Tg-FDD), which develops vascular amyloid, with tau-null (mTau-/-) mice to generate a CAA model lacking endogenous tau (Tg-FDD/mTau-/-). Behavioral, electrophysiological, histological, and transcriptomic analyses were performed.

Results: Tau depletion ameliorated motor and synaptic impairments, reduced vascular amyloid deposition, and prevented …

The Influence Of The American Association For Thoracic Surgery On Clinical Trial Development By Cardiothoracic Surgeons, Adishesh K Narahari, Taylor M Horgan, Anirudha S Chandrabhatla, Abhinav Kareddy, Ajami Gikandi, Marco A Zenati, David Harpole, David Jones, Leora T Yarboro, Bryan Burt, A Sasha Krupnick, J Hunter Mehaffey

Faculty, Staff and Students Publications

Objective: Clinical trials play a critical role in the rapidly evolving field of cardiothoracic surgery and the American Association for Thoracic Surgery Clinical Trials Methods Course has provided a biannual symposium led by preeminent surgeons with vast experience in planning, conducting, and analyzing surgical clinical trials. This study hypothesizes that participation in the course is associated with future success in clinical trial leadership.

Methods: A list of course attendees (2014-2022) was queried in ClinicalTrials.gov, a database of clinical trials funded by the US Department of Health and Human Services and the National Institutes of Health. The type of clinical trial …

Emapalumab Treatment In Rheumatologic Disease-Associated Hemophagocytic Lymphohistiocytosis: A Plain Language Summary, Shanmuganathan Chandrakasan, Carl E Allen, Deepika Bhatla, John Carter, May Chien, Robert Cooper, Lauren Draper, Olive S Eckstein, Rabi Hanna, J Allyson Hays, Michelle L Hermiston, Ashley P Hinson, Patricia M Hobday, Michael S Isakoff, Michael B Jordan, Jennifer W Leiding, Renee Modica, Taizo A Nakano, Abiola Oladapo, Sachit A Patel, Priti Pednekar, Mona Riskalla, Susmita N Sarangi, Prakash Satwani, Anand Tandra, Kelly J Walkovich, John D Yee, Adi Zoref-Lorenz, Edward M Behrens

Faculty, Staff and Students Publications

What is this summary about? Hemophagocytic lymphohistiocytosis (HLH) is a rare disease caused by overactivation of the body’s natural defense mechanism (the immune system) against infection. In untreated HLH, uncontrolled inflammation (hyperinflammation) can cause significant damage to the body’s organs and death. HLH can occur due to genetic defects (primary HLH) or as a complication or worsening of an underlying disease such as rheumatologic disease, cancer, or infection (secondary HLH).Interferon-gamma (IFNγ) is a type of protein that is overproduced in HLH and causes hyperinflammation. Emapalumab is a medicine that blocks IFNγ activity. The REAL-HLH study described the use of emapalumab …

Nanoparticle Contrast-Enhanced Computed Tomography And Magnetic Resonance Imaging Of Vascularization Of A Subcutaneous Niche For Islet Transplantation, Simone Capuani, Jocelyn Nikita Campa-Carranza, Nathanael Hernandez, Renuka T R Menon, Rohan Bhavane, Gabrielle E Rome, Laxman Devkota, Ketan B Ghaghada, Ananth V Annapragada, Corrine Ying Xuan Chua, Andrew A Badachhape, Alessandro Grattoni

Faculty, Staff and Students Publications

Revascularization plays a critical role in the successful engraftment of transplanted pancreatic islets, which are inherently rich in capillaries to meet their high metabolic demands. Innovative islet encapsulation strategies such as the NICHE (neovascularized implantable cell homing and encapsulation), generate a prevascularized transplantation site that allows for direct integration of the graft with the systemic circulation. Timing the transplantation is key to maximizing islet engraftment and survival, especially in diabetic individuals, who exhibit impaired wound healing. Therefore, in this study, we explored different methods to assess vascular development within NICHE in vivo in a non-invasive fashion. We effectively tracked neoangiogenesis …

Cross-Tissue Coordination Between Slc Nucleoside Transporters Regulates Reproduction In Caenorhabditis Elegans, Youchen Guan, Yong Yu, Shihong M Gao, Lang Ding, Qian Zhao, Meng C Wang

Faculty, Staff and Students Publications

Metabolism is fundamental to organism physiology and pathology. From the intricate network of metabolic reactions, diverse chemical molecules, collectively termed metabolites, are produced. In multicellular organisms, metabolite communication between different tissues is vital for maintaining homeostasis and adaptation. However, the molecular mechanisms mediating these metabolite communications remain poorly understood. Here, we focus on nucleosides and nucleotides, essential metabolites involved in multiple cellular processes, and report the pivotal role of the SLC29A family of transporters in mediating nucleoside coordination between the soma and the germline. Through genetic analysis, we discovered that two Caenorhabditis elegans homologs of SLC29A transporters, Equilibrative Nucleoside Transporter …

Temi: Tissue-Expansion Mass-Spectrometry Imaging, Hua Zhang, Lang Ding, Amy Hu, Xudong Shi, Penghsuan Huang, Haiyan Lu, Paul W Tillberg, Meng C Wang, Lingjun Li

Faculty, Staff and Students Publications

The spatial distribution of diverse biomolecules in multicellular organisms is essential for their physiological functions. High-throughput in situ mapping of biomolecules is crucial for both basic and medical research, and requires high scanning speed, spatial resolution, and chemical sensitivity. Here we developed a tissue-expansion method compatible with matrix-assisted laser desorption/ionization mass-spectrometry imaging (TEMI). TEMI reaches single-cell spatial resolution without sacrificing voxel throughput and enables the profiling of hundreds of biomolecules, including lipids, metabolites, peptides (proteins), and N-glycans. Using TEMI, we mapped the spatial distribution of biomolecules across various mammalian tissues and uncovered metabolic heterogeneity in tumors. TEMI can be easily …

Prevalence Of And Risk Factors For Osteoporosis And Fragility Fracture In Adults With Cerebral Palsy: A Systematic Review, Anne Trinh, Ellen Fremion, Shayan Bhathena, Craig F Munns, Prue Morgan, Daniel G Whitney, Bernadette Gillick, Margaret Zacharin, Darcy Fehlings, Amanda J Vincent, Frances Milat

Faculty, Staff and Students Publications

Aim: To systematically review the prevalence and incidence of osteoporosis, osteopenia, low bone mass, and fragility fracture in adults with cerebral palsy (CP), and identify the risk factors for osteoporosis and fracture.

Method: A systematic literature search was performed in the MEDLINE, PubMed, CINAHL, AMED, Cochrane Reviews, EMBASE, and EBM database reviews from inception until May 2024. Search terms covered a combination of keywords for CP, fracture, osteoporosis, incidence and prevalence, and risk factors. Participants were adults with CP aged 18 years and older. JBI critical appraisal instruments were used to assess quality and risk of bias.

Results: Seventeen of …

Functional Genomics In Age-Related Macular Degeneration: From Genetic Associations To Understanding Disease Mechanisms, Rinki Ratnapriya, Felix Grassman, Rui Chen, Alex Hewitt, Jianhai Du, Daniel R Saban, Caroline C W Klaver, John Ash, Dwight Stambolian, Santa J Tumminia, Jiang Qian, Deeba Husain, Sudha K Iyengar, Anneke I Den Hollander

Faculty, Staff and Students Publications

Genome-wide association studies have been remarkably successful in identifying genetic variants associated with age-related macular degeneration (AMD), demonstrating a strong genetic component largely driven by common variants. However, progress in translating these genetic findings into a deeper understanding of disease mechanisms and new therapies has been slow. Slow progress in this area can be attributed to limited knowledge of the functional impact of AMD-associated non-coding variants on gene function, the molecular mechanisms and cell types underlying disease. This review offers a comprehensive overview of functional genomics approaches to uncover the genetic, epigenetic, cellular and molecular mechanisms underlying AMD and outlines …

Screening For Oropharyngeal Cancer: The Time Is Now, Kristina R Dahlstrom, Erich M Sturgis, Karen S Anderson

Faculty, Staff and Students Publications

No abstract provided.

Screening For Oropharyngeal Cancer: The Time Is Now, Kristina R Dahlstrom, Erich M Sturgis, Karen S Anderson

Faculty, Staff and Students Publications

No abstract provided.

Bile Acid And Microbiome Interactions In The Developing Child, Mary Elizabeth M Tessier, Benjamin L Shneider, Joseph F Petrosino, Geoffrey A Preidis

Faculty, Staff and Students Publications

Interactions between the gut microbiome and bile acids are complex and are linked to outcomes in pediatric liver disease by mechanisms that are incompletely understood. In adults, primary bile acids are synthesized in the liver and secreted into the intestine, where complex communities of gut microbes deconjugate, oxidize, epimerize, and 7α-dehydroxylate bile acids into a diverse array of unconjugated, secondary, allo-, iso-, and oxo-bile acids. In contrast, the infant gut microbiota contains a simple, Bifidobacterium-dominant community that transitions to a more diverse, adult-like community as additional microbes colonize the gut. This microbial succession gradually confers deconjugation, oxidation, epimerization, and 7α-dehydroxylation …

Optimal Delay Time To Initiate Anticoagulation After Ischemic Stroke In Atrial Fibrillation: A Pragmatic, Response-Adaptive Randomized Clinical Trial, Steven J Warach, Lisa A Davis, Patrick Lawrence, Byron Gajewski, Jo Wick, Fred Shi, Ty T Shang, Daiwai M Olson, Sidarrth Prasad, Lee Birnbaum, Jody M Richardson, Sean I Savitz, Mark P Goldberg, Salvador Cruz-Flores, Israel Alba, Jane Anderson, Barbara Kimmel, Chethan P Venkatasubba Rao, Ben King, Adrienne N Dula, Truman J Milling

Faculty, Staff and Students Publications

Importance: Clinical practice guidelines recommend initiation of anticoagulation within 2 weeks after stroke with atrial fibrillation. It is unknown whether there is an optimal starting day within the 14-day period that balances the risks of recurrent embolic events against serious hemorrhagic events.

Objective: To determine if there is an optimal delay time to initiate treatment with a direct oral anticoagulant after atrial fibrillation-related stroke that minimizes the risk of a composite outcome of ischemic or hemorrhagic events.

Design, setting, and participants: This phase 2, pragmatic, response-adaptive randomized clinical trial was conducted between June 2017 and June 2023 at acute care …

Multidisciplinary Care In Body Contouring: An Integrative Approach To Enhancing Outcomes, Jacob Dinis, Sofia C Perez Otero, Diego M Quirarte, Winston R Owens, Sebastian J Winocour

Faculty, Staff and Students Publications

Body contouring procedures have become increasingly common to meet the growing demand for aesthetic surgery, particularly in the context of bariatrics. Massive weight loss (MWL) patients are complex and often require extensive management of comorbidities, malnutrition status, physical debilitation, and psychological sequelae. Patient optimization prior to body contouring surgery in addition to strict postoperative maintenance are crucial to achieve favorable and sustainable outcomes. Surgical candidates should be screened thoroughly, and in the MWL patient population specifically, multidisciplinary care is needed for proper evaluation and support. Notable specialists that routinely contribute in MWL and body contouring patient care include plastic surgeons, …

Recommendations For Design, Execution, And Reporting Of Studies On Experimental Thoracic Aortopathy In Preclinical Models, Alan Daugherty, Dianna M Milewicz, David A Dichek, Ketan B Ghaghada, Jay D Humphrey, Scott A Lemaire, Yanming Li, Ziad Mallat, Yvan Saeys, Hisashi Sawada, Ying H Shen, Toru Suzuki, Zhen Zhou

Faculty, Staff and Students Publications

There is a recent dramatic increase in research on thoracic aortic diseases that includes aneurysms, dissections, and rupture. Experimental studies predominantly use mice in which aortopathy is induced by chemical interventions, genetic manipulations, or both. Many parameters should be deliberated in experimental design in concert with multiple considerations when providing dimensional data and characterization of aortic tissues. The purpose of this review is to provide recommendations on guidance in (1) the selection of a mouse model and experimental conditions for the study, (2) parameters for standardizing detection and measurements of aortic diseases, (3) meaningful interpretation of characteristics of diseased aortic …

Atp1a3 Variants, Variably Penetrant Short Qt Intervals, And Lethal Ventricular Arrhythmias, Mary E Moya-Mendez, Minu-Tshyeto Bidzimou, Padmapriya Muralidharan, Zhushan Zhang, Jordan E Ezekian, Robin M Perelli, Lauren E Parker, Lyndsey Prange, April Boggs, Jeffrey J Kim, Taylor S Howard, Tarah A Word, Xander H T Wehrens, Gabriela Reyes Valenzuela, Roberto Caraballo, Giacomo Garone, Federico Vigevano, Sarah Weckhuysen, Charissa Millevert, Monica Troncoso, Mario Matamala, Simona Balestrini, Sanjay M Sisodiya, Josephine Poole, Claudio Zucca, Eleni Panagiotakaki, Maria T Papadopoulou, Sébile Tchaicha, Marta Zawadzka, Maria Mazurkiewicz-Beldzinska, Carmen Fons, Jennifer Anticona, Elisa De Grandis, Ramona Cordani, Livia Pisciotta, Sergiu Groppa, Sandra Paryjas, Francesca Ragona, Elena Mangia, Tiziana Granata, Andrey Megvinov, Mirjana Pavlicek, Kevin Ess, Christine Q Simmons, Alfred L George, Rosaria Vavassori, Mohamad A Mikati, Andrew P Landstrom

Faculty, Staff and Students Publications

Importance: Alternating hemiplegia of childhood (AHC) is a disorder that can result from pathogenic variants in ATP1A3-encoded sodium-potassium adenosine triphosphatase alpha 3 (ATP1A3). While AHC is primarily a neurologic disease, some individuals experience sudden unexplained death (SUD) potentially associated with cardiac arrhythmias.

Objective: To determine the impact of ATP1A3 variants on cardiac electrophysiology and whether lethal ventricular arrhythmias are associated with SUD in patients with AHC.

Design, setting, and participants: In this international, multicenter case-control study from 12 centers across 10 countries, patients with AHC were grouped by ATP1A3 variant status (positive vs negative) and into subgroups with the most …

Genetics, Manifestations, And Management Of Catecholaminergic Polymorphic Ventricular Tachycardia, Shubh Desai, Oliver M Moore, Xander H T Wehrens

Faculty, Staff and Students Publications

Purpose of review: Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a devastating heritable channelopathy that can lead to sudden cardiac death in children and young adults. This review aims to explore genetics, the cardiac and extracardiac manifestations of mutations associated with CPVT, and the challenges involved with managing phenotypically variable variants.

Recent findings: The understanding of the genetics and mechanisms of CPVT continues to grow with recent discoveries including alternative splicing of cardiac TRDN and calmodulin gene variants. Additionally, there is an increasing recognition of the extra-cardiac manifestations such as epilepsy, neurodevelopmental delay, and glucose homeostasis abnormalities in RyR2 variant carriers. …

Safety, Efficacy, And Pharmacokinetics Of Oral Testosterone Undecanoate In Males With Hypogonadism, Martin Miner, Christina Wang, Jed Kaminetsky, Mohit Khera, Irwin Goldstein, Culley Carson, Nachiappan Chidambaram, Shelby King, Adrian Dobs

Faculty, Staff and Students Publications

Background: Testosterone deficiency results from insufficient testosterone production. Testosterone therapy may require dose titration to reach eugonadal serum testosterone concentrations.

Objective: The primary objective was the efficacy of oral testosterone undecanoate (TLANDO; Antares Pharma Inc.) in male patients with documented hypogonadism. Secondary objectives included a comparison of oral testosterone undecanoate safety and quality-of-life assessments to 1.62% topical testosterone gel (AndroGel 1.62%; AbbVie).

Materials and methods: In this phase 3 study, 315 patients were randomized 2:1 to oral testosterone undecanoate or 1.62% topical testosterone gel (NCT02081300). Patients received 225 mg oral testosterone undecanoate twice daily, and doses were adjusted …

Uncovering Shared Genetic Features Between Inflammatory Bowel Disease And Systemic Lupus Erythematosus, Vikram R Shaw, Jinyoung Byun, Catherine Zhu, Rowland W Pettit, Jeffrey M Cohen, Younghun Han, Christopher I Amos

Faculty, Staff and Students Publications

Inflammatory bowel disease (IBD) is an autoimmune disease (AD) characterized by chronic, relapsing intestinal inflammation. Systemic lupus erythematosus (SLE) is a complex autoimmune disease with multisystem involvement and overactivation of both innate and adaptive immunity. The extra intestinal manifestations (EIMs) that commonly occur in IBD include many of the organ sites that are affected by SLE. ADs are often comorbid with one another and may have shared underlying genetic features and architectures contributing to their pathogenesis and disease course. We performed both epidemiological and post-genome wide association study (GWAS) analyses to investigate the shared genetic features between IBD and systemic …

Priorities - Due Today, Joslyn W Fisher

Faculty, Staff and Students Publications

No abstract provided.

Spaceflight Associated Neuro-Ocular Syndrome (Sans) And Its Countermeasures, Tuan Nguyen, Joshua Ong, Tyson Brunstetter, C Robert Gibson, Brandon R Macias, Steven Laurie, Thomas Mader, Alan Hargens, Jay C Buckey, Mimi Lan, Peter Wostyn, Cihan Kadipasaoglu, Scott M Smith, Sara R Zwart, Benjamin J Frankfort, Sarah Aman, Jessica M Scott, Ethan Waisberg, Mouayad Masalkhi, Andrew G Lee

Faculty, Staff and Students Publications

Astronauts can develop a distinct collection of neuro-ophthalmic findings during long duration spaceflight, collectively known as Spaceflight Associated Neuro-ocular Syndrome (SANS). These clinical characteristics include optic disc edema, hyperopic refractive shifts, globe flattening, and chorioretinal folds, which may pose a health risk for future space exploration. Obtaining knowledge of SANS and countermeasures for its prevention is crucial for upcoming crewed space missions and warrants a multidisciplinary approach. This review examines the potential causes and countermeasures of SANS, including space anticipation glasses, lower body negative pressure, venoconstrictive thigh cuffs, impedance threshold devices, translaminar pressure gradient modulation, centrifugation, artificial gravity, pharmaceuticals, and …

Regenerating The Injured Adult Heart: A Matter Of Precise Timing And Control?, Rich Gang Li, James F Martin

Faculty, Staff and Students Publications

No abstract provided.

Macrophage-Mediated Il-6 Signaling Drives Ryanodine Receptor-2 Calcium Leak In Postoperative Atrial Fibrillation, Joshua A Keefe, Yuriana Aguilar-Sanchez, J Alberto Navarro-Garcia, Isabelle Ong, Luge Li, Amelie Paasche, Issam Abu-Taha, Marcel A Tekook, Florian Bruns, Shuai Zhao, Markus Kamler, Ying H Shen, Mihail G Chelu, Na Li, Dobromir Dobrev, Xander Ht Wehrens

Faculty, Staff and Students Publications

Postoperative atrial fibrillation (poAF) is AF occurring days after surgery, with a prevalence of 33% among patients undergoing open-heart surgery. The degree of postoperative inflammation correlates with poAF risk, but less is known about the cellular and molecular mechanisms driving postoperative atrial arrhythmogenesis. We performed single-cell RNA-seq comparing atrial nonmyocytes from mice with and without poAF, which revealed infiltrating CCR2+ macrophages to be the most altered cell type. Pseudotime trajectory analyses identified Il-6 as a gene of interest driving in macrophages, which we confirmed in pericardial fluid collected from human patients after cardiac surgery. Indeed, macrophage depletion and macrophage-specific Il6ra …

Interventions To Improve Timely Cancer Diagnosis: An Integrative Review, Mark L Graber, Bradford D Winters, Roni Matin, Rosann T Cholankeril, Daniel R Murphy, Hardeep Singh, Andrea Bradford

Faculty, Staff and Students Publications

Cancer will affect more than one in three U.S. residents in their lifetime, and although the diagnosis will be made efficiently in most of these cases, roughly one in five patients will experience a delayed or missed diagnosis. In this integrative review, we focus on missed opportunities in the diagnosis of breast, lung, and colorectal cancer in the ambulatory care environment. From a review of 493 publications, we summarize the current evidence regarding the contributing factors to missed or delayed cancer diagnosis in ambulatory care, as well as evidence to support possible strategies for intervention. Cancer diagnoses are made after …

Antibiotic Prophylaxis With Urodynamic Studies In Spinal Cord Injury: Assessing Practice Patterns And Outcomes To Guide Future Practice In A Single Center, Du Pham, Bradley Chi, Felicia Skelton, Donna Huang

Faculty, Staff and Students Publications

Context/objective: Despite urinary tract infections (UTIs) being a common problem in patients with spinal cord injuries (SCIs), and a well-known complication of invasive urologic procedures, little consensus exists regarding the standard of care for peri-procedural antibiotic use for SCI patients undergoing urodynamics studies (UDS). Our research seeks to evaluate local antibiotic prophylaxis pattern in SCI patients undergoing UDS, assess incidence of post-procedural UTI, describe local antibiotic resistance trends, and provide antibiotic stewardship considerations to guide future practice.

Design/setting/participants: Retrospective cohort study of SCI patients undergoing UDS from January 2010 to January 2020 at a Veterans Affairs SCI Center. Data on …

Using A Transformer Language Model To Curate A Pulmonary Embolism Dataset From The Medical Information Mart For Intensive Care Iv: Mimic-Iv-Ext-Pe, Barbara D Lam, Shengling Ma, Iuliia Kovalenko, Peiqi Wang, Omid Jafari, Ang Li, Steven Horng

Faculty, Staff and Students Publications

Background: Pulmonary embolism (PE) is a leading cause of preventable in-hospital mortality. Advances in diagnosis, risk stratification, and prevention can improve outcomes. Large, publicly available datasets are needed to move research forward, but are lacking in the field of hemostasis and thrombosis.

Objectives: In this study, we experiment using a machine learning language model to automatically add PE labels to a large dataset.

Methods: We extracted all computed tomography pulmonary angiography radiology reports (N = 19,942) from the Medical Information Mart for Intensive Care IV, a database of adult patients who presented to the emergency room or were admitted …

Repeat Ascaris Challenge Reduces Worm Intensity Through Gastric Cellular Reprograming, Yifan Wu, Charlie Suarez-Reyes, Nina L Tang, Alexander R Kneubehl, Jill E Weatherhead

Faculty, Staff and Students Publications

Ascariasis (roundworm) is the most prevalent parasitic nematode infection worldwide, impacting approximately 500 million people predominantly in low- and middle-income countries (LMICs). While people of all ages are infected with Ascaris, infection intensity (defined by worm burden) paradoxically peaks in pre-school and school-aged children but then declines with age. The cause of age-dependent Ascaris worm intensity is not well understood but may be dependent on cellular changes in mucosal barrier sites. We have previously found that the gastric mucosa is a critical barrier site for Ascaris infection as ingested Ascaris larvae use acidic mammalian chitinase (AMCase) secreted by gastric chief …

Bi-Allelic Uggt1 Variants Cause A Congenital Disorder Of Glycosylation, Zain Dardas, Laura Harrold, Daniel G Calame, Claire G Salter, Takashi Kikuma, Kevin P Guay, Bobby G Ng, Kanae Sano, Ahmad K Saad, Haowei Du, Riccardo Sangermano, Sohil G Patankar, Shalini N Jhangiani, Semra Gürsoy, Mohamed S Abdel-Hamid, Mahmoud K H Ahmed, Reza Maroofian, Rauan Kaiyrzhanov, Kamran Salayev, Wendy D Jones, Ana Pérez Caballero, Lucy Mcgavin, Michael Spiller, Miranda Durkie, Nick Wood, Lauren O'Grady, Paula Goldenberg, Ann M Neumeyer, Amber Begtrup, Sherif F Abdel-Ghafar, Maha S Zaki, Hilde Van Esch, Jennifer E Posey, Olivia K Wenger, Ethan M Scott, Kinga M Bujakowska, Richard A Gibbs, Davut Pehlivan, Dana Marafi, Joseph S Leslie, Nishanka Ubeyratna, Jacob Day, Martina Owens, Jessica Settle, Soher Balkhy, Abdullah Tamim, Lama Alabdi, Fowzan S Alkuraya, Yoichi Takeda, Hudson H Freeze, Daniel N Hebert, James R Lupski, Andrew H Crosby, Emma L Baple

Faculty, Staff and Students Publications

Congenital disorders of glycosylation (CDGs) comprise a large heterogeneous group of metabolic conditions caused by defects in glycoprotein and glycolipid glycan assembly and remodeling, a fundamental molecular process with wide-ranging biological roles. Herein, we describe bi-allelic UGGT1 variants in fifteen individuals from ten unrelated families of various ethnic backgrounds as a cause of a distinctive CDG of variable severity. The cardinal clinical features of UGGT1-CDG involve developmental delay, intellectual disability, seizures, characteristic facial features, and microcephaly in the majority (9/11 affected individuals for whom measurements were available). The more severely affected individuals display congenital heart malformations, variable skeletal abnormalities including …

Establishing A Peritoneal Dialysis Technique Survival Core Outcome Measure: A Standardised Outcomes In Nephrology-Peritoneal Dialysis Consensus Workshop Report, Emma H Elphick, Karine E Manera, Andrea K Viecelli, Jonathan C Craig, Yeoungjee Cho, Angela Ju, Jenny I Shen, Martin Wilkie, Samaya Anumudu, Neil Boudville, Josephine Sf Chow, Simon J Davies, Patricia Gooden, Tess Harris, Arsh K Jain, Adrian Liew, Andrea Matus-Gonzalez, Noa Amir, Annie-Claire Nadeau-Fredette, Thu Nguyen, Angela Yee-Moon Wang, Daniela Ponce, Rob Quinn, Alison Jaure, David W Johnson, Mark Lambie, Peritoneal Dialysis International

Faculty, Staff and Students Publications

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