Medical Specialties Commons^™

Sinus Arrest Related To Dexmedetomidine Infusion In An Infant; A Case Report And Review Of Current Literature, Alexandra Dennee, Thomas P Fogarty, Taylor S Howard, Ryan Brandon Hunter

Faculty, Staff and Students Publications

Background: Dexmedetomidine, an alpha 2 agonist, has emerged as a desirable sedative agent in the pediatric intensive care unit due to its minimal effect on respiratory status and reduction in delirium. Bradycardia and hypotension are common side effects, however there are emerging reports of more serious cardiovascular events, including sinus arrest and asystole. These case reports have been attributed to high vagal tone or underlying cardiac conduction dysfunction.

Objectives: To describe the development of sinus arrest during sedation with dexmedetomidine in a patient without clinical features of high vagal tone, underlying cardiac conduction dysfunction, or intervening episodes of bradycardia.

Case …

Pediatric Mental Health Emergency Department Visits From 2017 To 2022: A Multicenter Study, Jennifer A Hoffmann, Camille P Carter, Cody S Olsen, David Ashby, Kamali L Bouvay, Susan J Duffy, James M Chamberlain, Sofia S Chaudhary, Nicolaus W Glomb, Jacqueline Grupp-Phelan, Maya Haasz, Erin P O'Donnell, Mohsen Saidinejad, Bashar S Shihabuddin, Leah Tzimenatos, Neil G Uspal, Joseph J Zorc, Lawrence J Cook, Elizabeth R Alpern

Faculty, Staff and Students Publications

Background: The COVID-19 pandemic adversely affected children's mental health (MH) and changed patterns of MH emergency department (ED) utilization. Our objective was to assess how pediatric MH ED visits during the COVID-19 pandemic differed from expected prepandemic trends.

Methods: We retrospectively studied MH ED visits by children 5 to < 18 years old at nine U.S. hospitals participating in the Pediatric Emergency Care Applied Research Network Registry from 2017 to 2022. We described visit length by time period: prepandemic (January 2017-February 2020), early pandemic (March 2020-December 2020), midpandemic (2021), and late pandemic (2022). We estimated expected visit rates from prepandemic data using multivariable Poisson regression models. We calculated rate ratios (RRs) of observed to expected visits per 30 days during each pandemic time period, overall and by sociodemographic and clinical characteristics.

Results: We identified 175,979 pediatric MH ED visits. Visit length exceeded 12 h for 7.3% prepandemic, 8.4% early pandemic, 15.0% midpandemic, and 19.2% late pandemic visits. During the early pandemic, observed visits per 30 days decreased relative to expected rates (RR 0.80, 95% confidence interval [CI] 0.78-0.84), were similar to expected …

Extrapyramidal System/Symptoms/Signs Should Be Retired, Abhishek Lenka, Joseph Jankovic

Faculty, Staff and Students Publications

The term "extrapyramidal system/symptoms/signs" and the acronym "EPS" have been abundantly used in neurology and psychiatry literature for more than a century. However, EPS has been increasingly criticized, especially by movement disorder neurologists, for its lack of clinical, anatomical, and physiologic definition. Contrary to traditional assumptions, pyramidal and extrapyramidal systems are not mutually exclusive. The acronym EPS, commonly used to denote drug-induced movement disorders, lacks specificity in conveying the nature and severity of these and other movement disorders. Consequently, we propose that the term is retired from scientific literature and that clinicians use specific phenomenologic descriptors for the various hypokinetc …

A Lexicon For First-Trimester Us: Society Of Radiologists In Ultrasound Consensus Conference Recommendations, Shuchi K Rodgers, Mindy M Horrow, Peter M Doubilet, Mary C Frates, Anne Kennedy, Rochelle Andreotti, Kristyn Brandi, Laura Detti, Sarah K Horvath, Aya Kamaya, Atsuko Koyama, Penelope Chun Lema, Katherine E Maturen, Tara Morgan, Sarah G Običan, Kristen Olinger, Roya Sohaey, Suneeta Senapati, Lori M Strachowski

Faculty, Staff and Students Publications

The Society of Radiologists in Ultrasound convened a multisociety panel to develop a first-trimester US lexicon based on scientific evidence, societal guidelines, and expert consensus that would be appropriate for imagers, clinicians, and patients. Through a modified Delphi process with consensus of at least 80%, agreement was reached for preferred terms, synonyms, and terms to avoid. An intrauterine pregnancy (IUP) is defined as a pregnancy implanted in a normal location within the uterus. In contrast, an ectopic pregnancy (EP) is any pregnancy implanted in an abnormal location, whether extrauterine or intrauterine, thus categorizing cesarean scar implantations as EPs. The term …

Clinical Features And Outcomes Of Pediatric And Adult Patients Hospitalized For Coronavirus Disease 2019: A Comparison Across Age Strata, Grace X Li, Komal Gopchandani, Noah Brazer, Ashley Tippett, Chris Choi, Hui-Mien Hsiao, Miriam Oseguera, Abiodun Foresythe, Sanchita Bhattacharya, Venice Servellita, Alicia Sotomayor Gonzalez, Jennifer K Spinler, Mark D Gonzalez, Dalia Gulick, Colleen Kraft, Vyjayanti Kasinathan, Yun F Wayne Wang, Jennifer Dien Bard, Pei Ying Chen, Jessica Flores-Vazquez, Audrey R Odom John, Paul J Planet, Sridevi Devaraj, Ananth V Annapragada, Ruth Ann Luna, Charles Y Chiu, Christina A Rostad

Faculty, Staff and Students Publications

BACKGROUND: Coronavirus disease 2019 (COVID-19) continues to cause hospitalizations and severe disease in children and adults.

METHODS: This study compared the risk factors, symptoms, and outcomes of children and adults hospitalized for COVID-19 from March 2020 to May 2023 across age strata at 5 US sites participating in the Predicting Viral-Associated Inflammatory Disease Severity in Children with Laboratory Diagnostics and Artificial Intelligence consortium. Eligible patients had an upper respiratory swab that tested positive for severe acute respiratory syndrome coronavirus 2 by nucleic acid amplification. Adjusted odds ratios (aOR) of clinical outcomes were determined for children versus adults, for pediatric age …

Promoting Resilience In Stress Management For Adolescents With Type 1 Diabetes: A Randomized Clinical Trial, Joyce P Yi-Frazier, Marisa E Hilliard, Maeve B O'Donnell, Chuan Zhou, Britney M Ellisor, Samantha Garcia Perez, Brenda Duran, Yuliana Rojas, Faisal S Malik, Daniel J Desalvo, Catherine Pihoker, Miranda C Bradford, Samantha Scott, Sridevi Devaraj, Abby R Rosenberg

Faculty, Staff and Students Publications

IMPORTANCE: Type 1 diabetes (T1D) requires demanding self-management health behaviors, and adolescents with T1D are at risk for poor psychosocial and medical outcomes. Developing resilience skills may help adolescents with T1D and elevated distress navigate common stressors and achieve positive outcomes.

OBJECTIVE: To test the efficacy of the Promoting Resilience in Stress Management (PRISM) intervention on levels of hemoglobin A1c (HbA1c), diabetes distress, self-management behaviors, resilience, and quality of life among adolescents.

DESIGN, SETTING, AND PARTICIPANTS: This phase 3, parallel, 1:1 randomized clinical trial that followed up 172 participants for 12 months was conducted from January 1, 2020, to November …

Crohn's Disease-Associated Granulomatous Pancreatitis With Exocrine Pancreatic Insufficiency, Anthony A Xu, Sara Vincent, Samuel Ma, Vanessa Catania, Neda Zarrin-Khameh

Faculty, Staff and Students Publications

Extraintestinal manifestations of inflammatory bowel disease occur commonly and can lead to considerable morbidity. Pancreatic manifestations of inflammatory bowel disease have been reported to be more common in Crohn's disease (CD) than ulcerative colitis. We report a case of granulomatous inflammation in the body of the pancreas with exocrine pancreatic insufficiency, which prompted a diagnosis switch from ulcerative colitis to CD. This is of interest to readers to remind them that pancreatic manifestations can occur and are more common in CD.

Factors Associated With Failed Closed Reduction In Flexion And Gartland Type Iii Pediatric Supracondylar Humerus Fractures, Pablo Coello, Nathaniel Grey Loyd, David A Hsiou, Rachel S Silverstein, Scott B Rosenfeld

Faculty, Staff and Students Publications

Background: Most displaced supracondylar humerus fractures (SCHFs) are treated with closed reduction and percutaneous pinning. While there are only a few possible indications for converting to an open reduction, a failed closed reduction is a common cause. This study aims to elucidate possible risk factors for failed closed reductions of SCHF.

Methods: A retrospective review of SCHF from 2010 to 2020 at a pediatric tertiary medical center, which underwent operative fixation, was conducted. Exclusion criteria were open fractures and reasons for open reduction other than failed closed reduction. Rates of open reduction were assessed by preoperative fracture classification and assessed …

Challenges Of Insulin-Like Growth Factor-1 Testing, Rongrong Huang, Junyan Shi, Ruhan Wei, Jieli Li

Faculty, Staff and Students Publications

Insulin-like growth factor 1 (IGF-1), primarily synthesized in the liver, was initially discovered due to its capacity to replicate the metabolic effects of insulin. Subsequently, it emerged as a key regulator of the actions of growth hormone (GH), managing critical processes like cell proliferation, differentiation, and apoptosis. Notably, IGF-1 displays a longer half-life compared to GH, making it less susceptible to factors that may affect GH concentrations. Consequently, the measurement of IGF-1 proves to be more specific and sensitive when diagnosing conditions such as acromegaly or GH deficiency. The recognition of the existence of IGFBPs and their potential to interfere …

Sinus Arrest Related To Dexmedetomidine Infusion In An Infant; A Case Report And Review Of Current Literature, Alexandra Dennee, Thomas P Fogarty, Taylor S Howard, Ryan Brandon Hunter

Faculty, Staff and Students Publications

Background: Dexmedetomidine, an alpha 2 agonist, has emerged as a desirable sedative agent in the pediatric intensive care unit due to its minimal effect on respiratory status and reduction in delirium. Bradycardia and hypotension are common side effects, however there are emerging reports of more serious cardiovascular events, including sinus arrest and asystole. These case reports have been attributed to high vagal tone or underlying cardiac conduction dysfunction.

Objectives: To describe the development of sinus arrest during sedation with dexmedetomidine in a patient without clinical features of high vagal tone, underlying cardiac conduction dysfunction, or intervening episodes of bradycardia.

Case …

Long-Term Prospective Outcomes Of Intensity Modulated Radiotherapy For Locally Advanced Lung Cancer: A Secondary Analysis Of A Randomized Clinical Trial, Stephen G Chun, Chen Hu, Ritsuko U Komaki, Robert D Timmerman, Steven E Schild, Jeffrey A Bogart, Michael C Dobelbower, Walter Bosch, Vivek S Kavadi, Samir Narayan, Puneeth Iyengar, Clifford Robinson, Jan Rothman, Adam Raben, Mark E Augspurger, Robert M Macrae, Rebecca Paulus, Jeffrey D Bradley

Faculty, Staff and Students Publications

Importance: The optimal radiotherapy technique for unresectable locally advanced non-small cell lung cancer (NSCLC) is controversial, so evaluating long-term prospective outcomes of intensity-modulated radiotherapy (IMRT) is important.

Objective: To compare long-term prospective outcomes of patients receiving IMRT and 3-dimensional conformal radiotherapy (3D-CRT) with concurrent carboplatin/paclitaxel for locally advanced NSCLC.

Design, setting, and participants: A secondary analysis of a prospective phase 3 randomized clinical trial NRG Oncology-RTOG 0617 assessed 483 patients receiving chemoradiotherapy (3D-CRT vs IMRT) for locally advanced NSCLC based on stratification.

Main outcomes and measures: Long-term outcomes were analyzed, including overall survival (OS), progression-free survival (PFS), time to local …

Sensory Symptoms Across The Lifespan In People With Cerebral Palsy, Ariel M Lyons-Warren, Danielle Guez-Barber, Sruthi P Thomas, Evelyne K Tantry, Aditya Mahat, Bhooma Aravamuthan

Faculty, Staff and Students Publications

Background: To estimate the prevalence of sensory symptoms in people with cerebral palsy (CP) across the lifespan.

Methods: In this cross-sectional study, the self-reported Sensory Processing Scale Inventory (SPS-I) was administered via Research Electronic Data Capture (REDCap) between February 1, 2022, and August 15, 2022, to people with CP or their caregivers enrolled in the online MyCP Community Registry. We determined the association between SPS-I scores and age (Pearson correlation) and functional status as assessed using five validated functional classification systems for CP (analysis of variance [ANOVA]). We hypothesized that sensory symptoms would differ between younger and older individuals with …

Frontiers In Congenital Disorders Of Glycosylation Consortium, A Cross-Sectional Study Report At Year 5 Of 280 Individuals In The Natural History Cohort, Christina Lam, Fernando Scaglia, Gerard T Berry, Austin Larson, Kyriakie Sarafoglou, Hans C Andersson, Evgenia Sklirou, Queenie K G Tan, Rodrigo T Starosta, Mustafa Sadek, Lynne Wolfe, Seishu Horikoshi, May Ali, Rita Barone, Teresa Campbell, Irene J Chang, Kiaira Coles, Edward Cook, Erik A Eklund, Nicole M Engelhardt, Mary Freeman, Jennifer Friedman, Debbie Y T Fu, Grace Botzo, Brandy Rawls, Christien Hernandez, Christin Johnsen, Kierstin Keller, Sara Kramer, Bryce Kuschel, Angela Leshinski, Ivan Martinez-Duncker, Gina L Mazza, Saadet Mercimek-Andrews, Bradley S Miller, Karthik Muthusamy, Juanita Neira, Marc C Patterson, Natalie Pogorelc, Lex N Powers, Elizabeth Ramey, Michaela Reinhart, Audrey Squire, Jenny Thies, Jerry Vockley, Hayden Vreugdenhil, Peter Witters, Mehdi Youbi, Aziza Zeighami, Roni Zemet, Andrew C Edmondson, Eva Morava

Faculty, Staff and Students Publications

Objective: Our report describes clinical, genetic, and biochemical features of participants with a molecularly confirmed congenital disorder of glycosylation (CDG) enrolled in the Frontiers in Congenital Disorders of Glycosylation (FCDGC) Natural History cohort at year 5 of the study.

Methods: We enrolled individuals with a known or suspected CDG into the FCDGC Natural History Study, a multicenter prospective and retrospective natural history study of all genetic causes of CDG. We conducted a cross-sectional analysis of baseline study visit data from participants with confirmed CDG who were consented into the FCDGC Natural History Study (5U54NS115198) from October 2019 to November 2023. …

Something Seems Fishy: Hepatic Abscess Due To Foreign Body Ingestion In A Pediatric Patient, James Rhodes, Amanda Macias, Emma Cooke, Joel Jacob, Ashley Devoll, Chelsea Young, Bradford Nguyen

Faculty, Staff and Students Publications

Pediatric hepatic abscesses are uncommon in children. They are usually preceded by intra-abdominal infections or caused by acute or chronic biliary disease. Cases of hepatic abscesses secondary to foreign body ingestion are even rarer but are most reported in countries such as China, where ingestion of fish and chicken bones is common. We report a rare case of an adolescent patient who developed a hepatic abscess after ingestion of a fishbone foreign body. He presented to the emergency department with emesis, abdominal pain, and subjective fevers of unknown etiology. Initial imaging of the abdomen was pertinent for a heterogeneous hepatic …

Food Allergy Thresholds, Context, And Balance In 2025, Marcus S Shaker, Jason Sanders, Aikaterini Anagnostou

Faculty, Staff and Students Publications

Food allergy impacts are far-reaching, across individuals, families, and societies, and affect both nutrition and psychological health. Understanding risk in context as well as thresholds of reactivity can help to improve food allergy management. These strategies can provide empowerment and improve quality of life. Food allergy thresholds and reaction severity can vary but both tend toward stability, at least in the short-term. An understanding of food allergen thresholds may better leverage active food allergy management as well as better tailor the most appropriate avoidance in selected individuals. Shared decision-making is central to operationalizing food allergen thresholds.

Infant Anaphylaxis And Epinephrine Use: Can We Improve Acute Management?, Aikaterini Anagnostou, Matthew Greenhawt, S Shahzad Mustafa, Jay A Lieberman, Marcus Shaker

Faculty, Staff and Students Publications

Background: Anaphylaxis is a serious systemic hypersensitivity reaction that is rapid in onset and may cause death.

Methods: The true prevalence of infant anaphylaxis is unknown, but such cases may be increasing in presentation of these patients to emergency departments, with studies that evaluate health-care utilization after implementation of early introduction guidelines that report an increase in the use of emergency department for food-related visits as well as an increase in epinephrine prescriptions for infants.

Results: Reasons for these increases may include early food introduction as well as therapeutic interventions such as early life or preschool oral immunotherapy.

Conclusion: Infant …

De Novo Variants In Immune Regulatory Genes In Down Syndrome Regression Disorder, Saba Jafarpour, Abhik K Banerjee, Mellad M Khoshnood, Benjamin N Vogel, Natalie K Boyd, Lina Nguyen, Rebecca Partridge, Stephanie L Santoro, Grace Y Gombolay, Kristen S Fisher, Diego Real De Asua, Maria Carmen Del Ortega, Cathy Franklin, Michael S Rafii, Jonathan D Santoro

Faculty, Staff and Students Publications

Background: Down Syndrome Regression Disorder (DSRD) is a rare and poorly understood disorder of the central nervous system, characterized by acute or subacute neuropsychiatric symptoms in previously healthy individuals with Down syndrome (DS). Many patients exhibit immunotherapy-responsiveness, indicative of immune dysregulation as a potential underlying etiology. While hypotheses are emerging regarding the role of interferon signaling in DSRD and other autoimmune conditions associated with DS, it is unclear why a small subset of individuals with DS develop DSRD. The aim of this study was to investigate genes of immune regulation in persons with DSRD.

Methods: This study included individuals with …

Evaluation Of An Educational Scholarship Fellowship Program For Health Professions Educators, Amber J Heck, Sateesh Arja, Laura D Bauler, Khalil Eldeeb, Kathryn N Huggett, Alana D Newell, Kelly M Quesnelle, Amina Sadik, Norma Saks, Paula J W Smith, Jonathan J Wisco

Faculty, Staff and Students Publications

Introduction: Historically, the requirement to produce scholarship for advancement has challenged health professions educators heavily engaged in teaching. As biomedical scientists or healthcare practitioners, few are trained in educational scholarship, and related faculty development varies in scope and quality across institutions. Currently, there is a need for faculty development and mentoring programs to support the development of these skills.

Methods: The International Association of Medical Science Educators (IAMSE) established the Medical Educator Fellowship (MEF) Program to foster health professions educational scholarship. MEF addresses the following: curriculum design, teaching methods and strategies, assessment, educational scholarship, and leadership. Participants receive mentorship and …

Using Geospatial Analysis To Identify Priority Communities For Cervical Cancer Prevention In Texas, Itunu O Sokale, Aaron P Thrift, Jane R Montealegre, Onyema G Chido-Amajuoyi, Victor T Adekanmbi, Abiodun O Oluyomi

Faculty, Staff and Students Publications

INTRODUCTION: Despite being almost entirely preventable, cervical cancer is the fourth most frequently diagnosed cancer among women worldwide. Cervical cancer incidence suggests missed opportunities for prevention. Geospatial analysis could strategically guide public health interventions. This study aimed to identify geographic clusters of cervical cancer incidence in Texas, a state with higher than national rates of cervical cancer incidence and mortality.

METHODS: In this population-based cross-sectional study, the authors analyzed incident cervical cancer data among Texas women aged 30-64 years, from 2014 to 2018. The authors conducted a purely spatial Poisson-based analysis function in SaTScan to examine geographic clusters of higher-than-expected …

Outcome Of Corynebacterial Bloodstream Infection In Patients With Cardiac Implantable Electronic Devices: A Brief Report And Systematic Review, Supavit Chesdachai, Larry M Baddour, M Rizwan Sohail, Bharath Raj Palraj, Malini Madhavan, Hussam Tabaja, Michele T Mcginnis, Madiha Fida, Douglas W Challener, Daniel C Desimone

Faculty, Staff and Students Publications

Cardiac implantable electronic device infection in the context of corynebacterial bloodstream infection (BSI) remains poorly understood. From 2012 to 2023 at Mayo Clinic, 4 of 12 patients with corynebacterial BSI had cardiac implantable electronic device infection: 1 patient was diagnosed during a relapsing BSI episode. Undefined source, persistent BSI, and the presence of a prosthetic cardiac valve were common characteristics.

Detection Of Soil-Transmitted Helminths And Schistosoma Spp By Nucleic Acid Amplification Test: Results Of The First 5 Years Of The Only International External Quality Assessment Scheme, Annemiek H J Schutte, Rob Koelewijn, Sitara S R Ajjampur, Bruno Levecke, James S Mccarthy, Rojelio Mejia, Steven A Williams, Jaco J Verweij, Lisette Van Lieshout, Jaap J Van Hellemond

Faculty, Staff and Students Publications

BACKGROUND: Infections with soil-transmitted helminths (STH) and schistosomiasis (SCH) result in a significant global health burden, particularly in rural communities in low and middle-income countries. While microscopy remains the primary diagnostic method for STH and SCH in resource-limited settings, nucleic acid amplification tests (NAATs) are gaining prominence as tools for evaluation of public health control programs in endemic countries, and individual diagnosis in high-income countries. Despite the high sensitivity and specificity of NAATs, previous research has highlighted inter-laboratory variations, both in technical and clinical performance, justifying the need for continuous proficiency testing.

METHODOLOGY: Results from 5 rounds over a 5-year …

Eculizumab For Management Of Hyperhemolysis Syndrome In Pediatric Patients With Sickle Cell Disease: A Single-Center Case Series, Ajibike Lapite, Saleh Bhar, Titilope Fasipe

Faculty, Staff and Students Publications

Chronic hemolytic anemia and vascular occlusion are hallmarks of sickle cell disease (SCD). Blood transfusions are critical for supportive and preventive management of SCD complications. Patients with SCD are at risk for hyperhemolysis syndrome (HHS), a subtype of delayed hemolytic transfusion reactions. HHS management includes intravenous immunoglobulin, corticosteroids, and avoidance of further transfusions. Not all patients respond to first-line agents. Eculizumab, which blocks terminal complement activation, has been proposed as second-line management of HHS. We describe two patients who received eculizumab for refractory HHS. In our experience, eculizumab is a safe and effective option for refractory pediatric HHS.

Low Vitamin D Levels In Patients With Symptoms Of Gastroparesis: Relationships With Nausea And Vomiting, Gastric Emptying And Gastric Myoelectrical Activity, Kenneth L Koch, Henry P Parkman, Katherine P Yates, Mark L Van Natta, Madhusudan Grover, Gianrico Farrugia, Thomas L Abell, Richard W Mccallum, Irene Sarosiek, Braden Kuo, Robert J Shulman, Laura Miriel, James Tonascia, Pankaj J Pasricha

Faculty, Staff and Students Publications

Patients with gastroparesis (Gp) often have diets deficient in calories, electrolytes, and vitamins. Vitamin D levels have been reported to be low in some patients with Gp but has not been systematically studied.

AIMS: To determine vitamin D levels and relationships among symptoms, gastric emptying and gastric myoelectrical activity (GMA) in patients with symptoms of Gp.

METHODS: 25-hydroxy-vitamin D was measured in patients at enrollment in the Gastroparesis Clinical Consortium Registry. Gastroparesis Cardinal Symptoms Index (GCSI), gastric emptying, and GMA before and after water load satiety test (WLST) were measured. GMA, expressed as percentage distribution of activity in normal and …

Fine-Tuning Ampk In Physiology And Disease Using Point-Mutant Mouse Models, Naghmana Ashraf, Jeanine L Van Nostrand

Faculty, Staff and Students Publications

AMP-activated protein kinase (AMPK) is an evolutionarily conserved serine/threonine kinase that monitors the cellular energy status to adapt it to the fluctuating nutritional and environmental conditions in an organism. AMPK plays an integral part in a wide array of physiological processes, such as cell growth, autophagy and mitochondrial function, and is implicated in diverse diseases, including cancer, metabolic disorders, cardiovascular diseases and neurodegenerative diseases. AMPK orchestrates many different physiological outcomes by phosphorylating a broad range of downstream substrates. However, the importance of AMPK-mediated regulation of these substrates in vivo remains an ongoing area of investigation to better understand its precise …

Deletion Of Mipep In Adipocytes Protects Against Obesity And Insulin Resistance By Boosting Muscle Metabolism, Alexis Diaz-Vegas, Kristen C Cooke, Harry B Cutler, Belinda Yau, Stewart W C Masson, Dylan Harney, Oliver K Fuller, Meg Potter, Søren Madsen, Niamh R Craw, Yiju Zhang, Cesar L Moreno, Melkam A Kebede, G Gregory Neely, Jacqueline Stöckli, James G Burchfield, David E James

Faculty, Staff and Students Publications

Mitochondria facilitate thousands of biochemical reactions, covering a broad spectrum of anabolic and catabolic processes. Here we demonstrate that the adipocyte mitochondrial proteome is markedly altered across multiple models of insulin resistance and reveal a consistent decrease in the level of the mitochondrial processing peptidase miPEP.

OBJECTIVE: To determine the role of miPEP in insulin resistance.

METHODS: To experimentally test this observation, we generated adipocyte-specific miPEP knockout mice to interrogate its role in the aetiology of insulin resistance.

RESULTS: We observed a strong phenotype characterised by enhanced insulin sensitivity and reduced adiposity, despite normal food intake and physical activity. Strikingly, …

Herpes Vegetans In A Patient With Acquired Immunodeficiency Syndrome (Aids) In The Setting Of Immune Reconstitution Inflammatory Syndrome, Angelique Ruml, Ibeth Caceres, Anna Catinis, Theodore Rosen

Faculty, Staff and Students Publications

Herpes simplex virus (HSV) infections classically present as a vesicular eruption on an erythematous base; however, viral infections may present much differently in the setting of immune deficiency. Herpes vegetans is an atypical presentation of HSV that occurs in immunocompromised patients, typically those with human immunodeficiency virus infection and acquired immunodeficiency syndrome (AIDS). Herpes vegetans is characterized by hyperkeratotic, exophytic, and, sometimes, ulcerated nodules, often with a chronic and persistent course. Herein, we present an interesting example of biopsy-confirmed anogenital herpes vegetans in a 61-year-old male with AIDS in the setting of immune reconstitution inflammatory syndrome, an association that is …

Transcecal Endoscopic Appendectomy For Management Of Complex Appendiceal Polyps Extending Into The Appendiceal Orifice, Tara Keihanian, Mai A Khalaf, Fuad Zain Aloor, Dina Hani Zamil, Salmaan Jawaid, Mohamed O Othman

Faculty, Staff and Students Publications

Background and study aims Endoscopic resection of appendiceal orifice (AO) polyps extending inside the appendiceal lumen is challenging given the inability to determine polyp lateral margins and risk of appendicitis. Transcecal endoscopic appendectomy (TEA) ensures en bloc resection of these complex polyps.

Patients and methods This case series includes patients who underwent TEA by a single endoscopist in the United States. Technical success was defined as achieving complete removal of the appendix along with AO polyp in an en bloc fashion.

Results In total, nine patients were included (mean age 69.7 ± 9.6 years). The average appendix size was 4.07 …

Pragmatism And Feasibility: A Qualitative Study Of Experiences Implementing And Upgrading Care In Geriatric Emergency Departments, Anita Chary, Annika Bhananker, Vivian Ramont, Lauren Southerland, Aanand Naik, Kyler Godwin, Maura Kennedy

Faculty, Staff and Students Publications

OBJECTIVES: Implementation and sustainability of new care processes in emergency departments (EDs) is difficult. We describe experiences of implementing geriatric care processes in EDs that upgraded their accreditation level for the Geriatric Emergency Department Accreditation (GEDA) program. These EDs can provide a model for adopting and sustaining guidelines for evidence-based geriatric care.

METHODS: We performed qualitative interviews with geriatric ED nurse and physician leaders overseeing their ED's geriatric accreditation processes. The interview guide was based on the Consolidated Framework for Implementation Research (CFIR), a framework consisting of a comprehensive set of factors that impact implementation of evidence-based interventions. We used …

A Group 3 Medulloblastoma Stem Cell Program Is Maintained By Otx2-Mediated Alternative Splicing, Olivier Saulnier, Jamie Zagozewski, Lisa Liang, Liam D Hendrikse, Paul Layug, Victor Gordon, Kimberly A Aldinger, Parthiv Haldipur, Stephanie Borlase, Ludivine Coudière-Morrison, Ting Cai, Emma Martell, Naomi M Gonzales, Gareth Palidwor, Christopher J Porter, Stéphane Richard, Tanveer Sharif, Kathleen J Millen, Brad W Doble, Michael D Taylor, Tamra E Werbowetski-Ogilvie

Faculty, Staff and Students Publications

OTX2 is a transcription factor and known driver in medulloblastoma (MB), where it is amplified in a subset of tumours and overexpressed in most cases of group 3 and group 4 MB. Here we demonstrate a noncanonical role for OTX2 in group 3 MB alternative splicing. OTX2 associates with the large assembly of splicing regulators complex through protein-protein interactions and regulates a stem cell splicing program. OTX2 can directly or indirectly bind RNA and this may be partially independent of its DNA regulatory functions. OTX2 controls a pro-tumorigenic splicing program that is mirrored in human cerebellar rhombic lip origins. Among …

Fetal Malrotation With Midgut Volvulus: Prenatal Diagnosis And Planning, Jai Sidpra, Sniya Sudhakar, Asthik Biswas, Flavia Massey, Valentina Turchetti, Tracy Lau, Edward Cook, Javeria Raza Alvi, Hasnaa M Elbendary, Jerry L Jewell, Antonella Riva, Alessandro Orsini, Aglaia Vignoli, Zara Federico, Jessica Rosenblum, An-Sofie Schoonjans, Matthias De Wachter, Ignacio Delgado Alvarez, Ana Felipe-Rucián, Nourelhoda A Haridy, Shahzad Haider, Mashaya Zaman, Selina Banu, Najwa Anwaar, Fatima Rahman, Shazia Maqbool, Rashmi Yadav, Vincenzo Salpietro, Reza Maroofian, Rajan Patel, Rupa Radhakrishnan, Sanjay P Prabhu, Klaske Lichtenbelt, Helen Stewart, Yoshiko Murakami, Ulrike Löbel, Felice D'Arco, Emma Wakeling, Wendy Jones, Eleanor Hay, Sanjay Bhate, Thomas S Jacques, David M Mirsky, Matthew T Whitehead, Maha S Zaki, Tipu Sultan, Pasquale Striano, Anna C Jansen, Maarten Lequin, Linda S De Vries, Mariasavina Severino, Andrew C Edmondson, Lara Menzies, Philippe M Campeau, Henry Houlden, Amy Mctague, Stephanie Efthymiou, Kshitij Mankad

Faculty, Staff and Students Publications

Inherited glycosylphosphatidylinositol deficiency disorders (IGDs) are a group of rare multisystem disorders arising from pathogenic variants in glycosylphosphatidylinositol anchor pathway (GPI-AP) genes. Despite associating 24 of at least 31 GPI-AP genes with human neurogenetic disease, prior reports are limited to single genes without consideration of the GPI-AP as a whole and with limited natural history data. In this multinational retrospective observational study, we systematically analyse the molecular spectrum, phenotypic characteristics and natural history of 83 individuals from 75 unique families with IGDs, including 70 newly reported individuals; the largest single cohort to date. Core clinical features were developmental delay or …