Digital Commons Network^™

Proportion Of Upper Extremity Musculoskeletal Disorders Attributable To Personal And Occupational Factors: Results From The French Pays De La Loire Study, Aboubakari Nambiema, Sandrine Bertrais, Julie Bodin, Natacha Fouquet, Agnès Aublet-Cuvelier, Bradley Evanoff, Alexis Descatha, Yves Roquelaure

Open Access Publications

BACKGROUND: Upper extremity musculoskeletal disorders (UEMSD) are one of the most common and costly occupational health problems. We aimed to assess the population-attributable fraction (PAF) of personal and occupational risk factors associated with incident UEMSD in a working population.

METHODS: From 2002 to 2005, a random sample of 3710 workers from the Pays de la Loire region in France, aged 20-59 were included by occupational physicians (OPs). Between 2007 and 2010, 1611 workers were re-examined by their OPs. Subjects free from UEMSD at baseline were included in this study (1275 workers, mean age: 38.2 years). Cox regression models with equal …

De Novo Frameshift Variants In The Neuronal Splicing Factor Nova2 Result In A Common C-Terminal Extension And Cause A Severe Form Of Neurodevelopmental Disorder, Francesca Mattioli, Gaelle Hayot, Nathalie Drouot, Bertrand Isidor, Jérémie Courraud, Maria-Victoria Hinckelmann, Frederic Tran Mau-Them, Chantal Sellier, Alica Goldman, Aida Telegrafi, Alicia Boughton, Candace Gamble, Sebastien Moutton, Angélique Quartier, Nolwenn Jean, Paul Van Ness, Sarah Grotto, Sophie Nambot, Ganka Douglas, Yue Cindy Si, Jamel Chelly, Zohra Shad, Elisabeth Kaplan, Richard Dineen, Christelle Golzio, Nicolas Charlet-Berguerand, Jean-Louis Mandel, Amélie Piton

Faculty, Staff and Students Publications

The neuro-oncological ventral antigen 2 (NOVA2) protein is a major factor regulating neuron-specific alternative splicing (AS), previously associated with an acquired neurologic condition, the paraneoplastic opsoclonus-myoclonus ataxia (POMA). We report here six individuals with de novo frameshift variants in NOVA2 affected with a severe neurodevelopmental disorder characterized by intellectual disability (ID), motor and speech delay, autistic features, hypotonia, feeding difficulties, spasticity or ataxic gait, and abnormal brain MRI. The six variants lead to the same reading frame, adding a common proline rich C-terminal part instead of the last KH RNA binding domain. We detected 41 genes differentially spliced after NOVA2 …

Safe Sleep Behaviors Among South Dakota Mothers And The Role Of The Healthcare Provider., Bonny L. Specker, Maggie Minett, Tianna Beare, Nicole Poppinga, Mary Carpenter, Jill Munger, Katelyn Strasser, Linda Ahrendt

Ethel Austin Martin Program Publications

INTRODUCTION: The purpose of this report was to determine the prevalence of safe sleep practices among South Dakota mothers, and the impact that education from their healthcare provider had on infant safe sleep practices as defined by the American Academy of Pediatrics (AAP).

METHOD: A population-based survey was administered to a random sample of mothers delivering in 2017. Data were weighted to obtain statewide and race-specific (white, non-Hispanic; American Indian; other races) prevalence rates.

RESULTS: Weighted response rate was 67 percent, with 9.9 percent of mothers giving birth in 2017 completing a survey. Greater than 85 percent of mothers met …

Sex In The Sanctuary: Art, Faith And Female Sexual Addiction, Katrina Everett

Community Engagement Student Work

Little research has been done on female sexual addiction and even less research exists regarding the intersectional complexities of female sexual addiction for women of faith. Female sexuality has been largely invisible in religious communities and in society. This project endeavored to explore if art could be an appropriate tool to increase the visibility of the experiences of women of faith dealing with sexual addiction. An interdisciplinary mixed medium workshop was curated that encompassed an interactive art exhibition, poetry readings, monologue and open discussion. The goal of the workshop was increase the visibility of the experiences of women of faith …

Total Plasma Volume Determinations For Patients With Potentially Challenging Conditions Requiring Therapeutic Plasma Exchange: Dealer's Choice, Lizabeth Rosenbaum, Mindi Johnson, Marissa Li, Jay S. Raval

Pathology Research and Scholarship

LETTER TO THE EDITORTotal plasma volume determinations for patients withpotentially challenging conditions requiring therapeuticplasma exchange: Dealer's choiceTo the Editor:Determination of total blood volume (TBV) and totalplasma volume (TPV) are essential steps in the process ofinitiating therapeutic plasma exchange (TPE).1Regardlessof the specific disease for which a procedure is to be per-formed, apheresis instruments typically require height,weight, sex, and hematocrit data to calculate TPV. For rou-tine patients, these calculations are generally straightfor-ward to perform and are accurate. However, certainconditions raise the concern of possibly inaccurate TPVdeterminations. These potentially challenging conditionsinclude obesity, pregnancy, and limb amputation. Despitenumerous modifications available to typical TBV and …

Association Between Immune-Related Adverse Events And Recurrence-Free Survival Among Patients With Stage Iii Melanoma Randomized To Receive Pembrolizumab Or Placebo: A Secondary Analysis Of A Randomized Clinical Trial, Alexander M M Eggermont, Leonel Hernandez-Aya, Et Al

Open Access Publications

Importance: Whether immune-related adverse events (irAEs) indicate drug activity in patients treated with immune checkpoint inhibitors remains unknown.

Objective: To investigate the association between irAEs and recurrence-free survival (RFS) in the double-blind EORTC 1325/KEYNOTE-054 clinical trial comparing pembrolizumab therapy and placebo for the treatment of patients with high-risk stage III melanoma.

Design, Setting, and Participants: A total of 1019 adults with stage III melanoma were randomly assigned on a 1:1 ratio to receive treatment with pembrolizumab therapy or placebo. Eligible patients were adults 18 years and older with complete resection of cutaneous melanoma metastatic to lymph nodes, classified with stage …

Pre-Exposure Prophylaxis For Preventing Acquisition Of Hiv: A Cross-Sectional Study Of Patients, Prescribers, Uptake, And Spending In The United States, 2015-2016, Stephanie S. Chan, Andre R. Chappel, Karen E. Joynt Maddox, Karen W. Hoover, Ya-Lin A. Huang, Weiming Zhu, Stacy M. Cohen, Pamela W. Klein, Nancy De Lew

Open Access Publications

BACKGROUND: In 2015, there were approximately 40,000 new HIV diagnoses in the United States. Pre-exposure prophylaxis (PrEP) is an effective strategy that reduces the risk of HIV acquisition; however, uptake among those who can benefit from it has lagged. In this study, we 1) compared the characteristics of patients who were prescribed PrEP with individuals newly diagnosed with HIV infection, 2) identified the specialties of practitioners prescribing PrEP, 3) identified metropolitan statistical areas (MSAs) within the US where there is relatively low uptake of PrEP, and 4) reported median amounts paid by patients and third-party payors for PrEP.

METHODS AND …

Examining Prevalence Of Eating Disorder Risk And Body Image Dissatisfaction In Female Adolescent Cheerleaders, Kelsi K. Mariner

Senior Theses

Content: Cheerleading has evolved into a highly competitive and physically demanding sport where athletes must balance academics, intense training, and pressure to maintain expected aesthetic qualities of the sport. These requirements can cause distress which may lead athletes to suffer from eating disorder (ED) risk and body image dissatisfaction (BID). Objective: To examine the prevalence of risk for ED and determine the presence of body image dissatisfaction within adolescent cheerleaders. Design: This study was conducted as a part of a larger concurrent study with Dr. Torres-McGehee and Allison Smith. It is a cross sectional study. Setting: Online survey. Participants: Female …

Pkcδ Causes Sepsis-Induced Cardimyopathy By Inducing Mitochondrial Dysfunction, Leroy C. Joseph, Michael V. Reyes, Kundanika R. Lakkadi, Blake H. Gowen, Gyorgy Hasko, Konstantinos Drosatos, John P. Morrow

Pathology Research and Scholarship

Sepsis-induced cardiomyopathy (SIC) is associated with increased patient mortality. At present, there are no specific therapies for SIC. Previous studies have reported increased reactive oxygen species (ROS) and mitochondrial dysfunction during SIC. However, a unifying mechanism remains to be defined. We hypothesized that PKCδ is required for abnormal calcium handling and cardiac mitochondrial dysfunction during sepsis and that genetic deletion of PKCδ would be protective. Polymicrobial sepsis induced by cecal ligation and puncture (CLP) surgery decreased the ejection fraction of wild-type (WT) mice but not PKCδ knockout (KO) mice. Similarly, WT cardiomyocytes exposed to lipopolysaccharide (LPS) demonstrated decreases in contractility …

Prevalence And Factors Associated With Overweight And Central Obesity Among Adults In The Eastern Sudan, Saeed M. Omar, Zainab Taha, Ahmed Ali Hassan, Osama Al-Wutayd, Ishag Adam

All Works

© 2020 Omar et al. This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. Background A global epidemic of obesity has been documented, particularly among African countries. While central obesity and overweight have been reported for many countries, very limited information exists about the prevalence of these health problems in Sudan, and these data are nonexistent for Eastern Sudan. The present study aimed to determine the prevalence of obesity and central obesity, as well as …

Reducing Risk Among Sorority New Members, Juliana G. Nikolich

Senior Theses

This thesis project served to develop harm-reduction strategies for the Panhellenic sorority community at the University of South Carolina and evaluate their effectiveness. These initiatives began with a focus on the 1,445 new members that accepted sorority bids in August 2019 and expanded to include initiated members, resulting in 4,414 total members being included in this project. Multiple strategies were implemented, including new member surveys, peer-led discussions, mentor education, alternative sober events, online risk assessments, and harm reduction interventions before high-risk events. While new members displayed increased drinking frequency and consumption amounts throughout the duration of their sorority membership, they …

Experiences In Physical Education And Sport: The Intersection Of Identifying As A Female, An Athlete, And Visually Impaired, Margaret Buckley

Human Movement Studies & Special Education Theses & Dissertations

Introduction. Individuals with visual impairments, females, and athletes encounter different challenges during physical education. However, little is known about how the challenges connected with each of these identities intersect and if that intersection impacts experiences differently. The purpose of this study was to take an explicitly intersectional approach to understand how identifying as an individual with a visual impairment, a female, and an athlete intersect to influence physical education and sport experiences. Methods. To describe the participants’ intersectional experiences as female athletes with a visual impairment, an interpretative phenomenological analysis (IPA) research approach was implemented. Four female athletes with visual …

Laser Ablation Of Abnormal Neurological Tissue Using Robotic Neuroblate System (Laantern): Procedural Safety And Hospitalization, Robert C. Rennert, Usman Khan, Jiri Bartek, Stephen B. Tatter, Melvin Field, Brian Toyota, Peter E. Fecci, Kevin Judy, Alireza M. Mohammadi, Patrick Landazuri, Andrew E. Sloan, Albert H. Kim, Eric C. Leuthardt, Clark C. Chen

2020-Current year OA Pubs

BACKGROUND: Stereotactic laser ablation (SLA) has demonstrated potential utility for a spectrum of difficult to treat neurosurgical pathologies in multiple small and/or retrospective single-institutional series. Here, we present the safety profile of SLA of intracranial lesions from the Laser Ablation of Abnormal Neurological Tissue using Robotic NeuroBlate System (LAANTERN; Monteris Medical) multi-institutional, international prospective observational registry.

OBJECTIVE: To determine the procedural safety of SLA for intracranial lesions.

METHODS: Prospective procedural safety and hospitalization data from the first 100 treated LAANTERN patients was collected and analyzed.

RESULTS: Mean age and baseline Karnofsky Performance Status (KPS) were 51(± 17) yr and 83(± …

Breast Cancer Risk, Worry, And Anxiety: Effect On Patient Perceptions Of False-Positive Screening Results, Janie M. Lee, Kathryn P. Lowry, Jessica E. Cott Chubiz, J. Shannon Swan, Tina Motazedi, Elkan F. Halpern, Anna N. A. Tosteson, G. Scott Gazelle, Karen Donelan

2020-Current year OA Pubs

OBJECTIVE: The impact of mammography screening recall on quality-of-life (QOL) has been studied in women at average risk for breast cancer, but it is unknown whether these effects differ by breast cancer risk level. We used a vignette-based survey to evaluate how women across the spectrum of breast cancer risk perceive the experience of screening recall.

METHODS: Women participating in mammography or breast MRI screening were recruited to complete a vignette-based survey. Using a numerical rating scale (0-100), women rated QOL for hypothetical scenarios of screening recall, both before and after benign results were known. Lifetime breast cancer risk was …

Associations Between Breast Cancer Subtype And Neighborhood Socioeconomic And Racial Composition Among Black And White Women, Erin Linnenbringer, Arline T Geronimus, Kia L Davis, John Bound, Libby Ellis, Scarlett L Gomez

2020-Current year OA Pubs

PURPOSE: Studies of Black-White differences in breast cancer subtype often emphasize potential ancestry-associated genetic or lifestyle risk factors without fully considering how the social or economic implications of race in the U.S. may influence risk. We assess whether neighborhood racial composition and/or socioeconomic status are associated with odds of triple-negative breast cancer (TNBC) diagnosis relative to the less-aggressive hormone receptor-positive/HER2-negative subtype (HR+ /HER-), and whether the observed relationships vary across women's race and age groups.

METHODS: We use multilevel generalized estimating equation models to evaluate odds of TNBC vs. HR+ /HER2- subtypes in a population-based cohort of 7291 Black and …

Robotic-Assisted Percutaneous Coronary Intervention Through Transradial Approach: Experience In 4 Patients With Complex Lesions, Amornpol Anuwatworn, Muhammad Ali Kahn, Tomasz Stys, Marian Petrasko, Adam Stys

The Texas Heart Institute Journal

Robotic-assisted percutaneous coronary intervention can reduce the exposure of interventional cardiologists to radiation and minimize the risk of occupational orthopedic injuries from wearing heavy protective aprons. The PRECISE (Percutaneous Robotically-Enhanced Coronary Intervention) study showed the efficacy and safety of robotic-assisted procedures for relatively low-risk lesions in single coronary arteries. Several reports have described robotic-assisted treatment of complex high-risk lesions, mostly through the transfemoral approach. We report 4 cases of patients in whom we used the transradial approach to treat complex lesions in the left anterior descending coronary artery with bifurcation balloon angioplasty reconstruction (2 cases), in the ostium of the …

Strategies For Mitigating Sexual Desire Discrepancy In Relationships, Laura M. Vowels, Kristen P. Mark

Kinesiology and Health Promotion Faculty Publications

Sexual desire discrepancy, when one member of a couple experiences more or less sexual desire relative to their partner, is among the main reasons for couples to seek therapy. A great deal of prior research has examined the complexity of sexual desire and the role of sexual desire discrepancy in long-term relationships, but little research has specifically examined strategies used to mitigate sexual desire discrepancy when it arises. Thus, the purpose of the present mixed methods study was to identify the strategies that individuals in long-term relationships use during times of desire discrepancy and to address whether the use of …

Personal, Biomechanical, Psychosocial, And Organizational Risk Factors For Carpal Tunnel Syndrome: A Structural Equation Modeling Approach, Yves Roquelaure, Ronan Garlantézec, Bradley A. Evanoff, Alexis Descatha, Jean-Baptiste Fassier, Julie Bodin

2020-Current year OA Pubs

This longitudinal study aimed at exploring the direct and indirect relationships between organizational, psychosocial, biomechanical, and personal factors and carpal tunnel syndrome (CTS) in French workers. Between 2002 and 2005, 3710 workers were included in the Cosali cohort. Between 2007 and 2010, 1611 workers were re-examined using the same standardized clinical protocol. Subjects free from CTS at baseline were studied (804 men and 563 women). We used structural equation models to examine the relationships between incident CTS cases and organizational (machine-paced work or work pace dependent on customers' demand), psychosocial (job strain model), biomechanical (Borg's rating perceived exertion, wrist bending, …

Diabetes And Cardiovascular Disease In Women: Current Challenges And New Hope, Efstratios Koutroumpakis, David Aguilar

The Texas Heart Institute Journal

No abstract provided.

Histologic Abnormalities Of The Ascending Aorta: Effects On Aortic Remodeling After Intracardiac Repair Of Tetralogy Of Fallot, Ujjwal Kumar Chowdhury, Lakshmi Kumari Sankhyan, Sheil Avneesh, Ruma Ray, Mani Kalaivani, Suruchi Hasija, Abhinavsingh Chauhan

The Texas Heart Institute Journal

We evaluated aortic tissue specimens from patients undergoing tetralogy of Fallot repair, to determine whether histologic abnormalities affect postsurgical aortic remodeling and other patient-related variables.

Using light microscopy, we studied full-thickness aortic wall tissue operatively excised from 118 consecutive patients undergoing intracardiac repair of tetralogy of Fallot. We performed multiple linear regression analysis to identify independent predictors of change in aortic root dimensions, which we measured with echocardiography after repair and every 3 months thereafter.

Thirty histologically normal specimens were used as controls. Elastic fiber fragmentation was found in 74.6% of the abnormal specimens, mucoid extracellular matrix accumulation in 49.2%, …

Nr2f1 Heterozygous Knockout Mice Recapitulate Neurological Phenotypes Of Bosch-Boonstra-Schaaf Optic Atrophy Syndrome And Show Impaired Hippocampal Synaptic Plasticity, Chun-An Chen, Wei Wang, Steen E Pedersen, Ayush Raman, Michelle L Seymour, Fernanda R Ruiz, Anping Xia, Meike E Van Der Heijden, Li Wang, Jiani Yin, Joanna Lopez, Megan E Rech, Richard A Lewis, Samuel M Wu, Zhandong Liu, Fred A Pereira, Robia G Pautler, Huda Y Zoghbi, Christian P Schaaf

Faculty, Staff and Students Publications

Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS) has been identified as an autosomal-dominant disorder characterized by a complex neurological phenotype, with high prevalence of intellectual disability and optic nerve atrophy/hypoplasia. The syndrome is caused by loss-of-function mutations in NR2F1, which encodes a highly conserved nuclear receptor that serves as a transcriptional regulator. Previous investigations to understand the protein's role in neurodevelopment have mostly used mouse models with constitutive and tissue-specific homozygous knockout of Nr2f1. In order to represent the human disease more accurately, which is caused by heterozygous NR2F1 mutations, we investigated a heterozygous knockout mouse model and found that this model …

Association Of Immunophenotype With Expression Of Topoisomerase Ii Α And Β In Adult Acute Myeloid Leukemia, Andrew P. Michelson, Shannon Mcdonough, Cheryl L. Willman, Eric R. Koegle, John E. Godwin, Stephen H. Petersdorf, Alan F. List, Megan Othus, Frederick R. Appelbaum, Jerald P. Radich, Mahrukh K. Ganapathi, Anjali S. Advani, Ram N. Ganapathi

Pathology Research and Scholarship

Anthracyclines used in the treatment of acute myelogenous leukemia (AML) inhibit the activity of the mammalian topoisomerase II (topo II) isoforms, topo II α and topo IIβ. In 230 patients with non-M3 AML who received frontline ara-C/daunorubicin we determined expression of topo IIα and topo IIβ by RT-PCR and its relationship to immunophenotype (IP) and outcomes. Treatment outcomes were analyzed by logistic or Cox regression. In 211 patients, available for analysis, topo IIα expression was significantly lower than topo IIβ (P < 0.0001). In contrast to topo IIα, topo IIβ was significantly associated with blast percentage in marrow or blood (P = 0.0001), CD7 (P = 0.01), CD14 (P < 0.0001) and CD54 (P < 0.0001). Event free survival was worse for CD56-negative compared to CD56-high (HR = 1.9, 95% CI [1.0-3.5], p = 0.04), and overall survival was worse for CD-15 low as compared to CD15-high (HR = 2.2, 95% CI [1.1-4.2], p = 0.02). Ingenuity pathway analysis indicated topo IIβ and immunophenotype markers in a network associated with cell-to-cell signaling, hematological system development/function and inflammatory response. Topo IIβ expression reflects disease biology of highly proliferative disease and distinct IP but does not appear to be an independent variable influencing outcome in adult AML patients treated with anthracycline-based therapy.

Associations Of Maternal Resources With Care Behaviours Differ By Resource And Behaviour, Sulochana Basnet, Edward A. Frongillo Jr., Phuong Hong Nguyen, Spencer Moore, Mandana Arabi

Faculty Publications

Care is important for children's growth and development, but lack or inadequacy of resources for care can constrain appropriate caregiving. The objectives of this study were to examine whether maternal resources for care are associated with care behaviours specifically infant and young child feeding, hygiene, health-seeking, and family care behaviours. The study also examined if some resources for care are more important than others. This study used baseline Alive & Thrive household surveys from Bangladesh, Vietnam, and Ethiopia. Measures of resources for care were maternal education, knowledge, height, nourishment, mental well-being, decision-making autonomy, employment, support in chores, and perceived instrumental …

Thrombotic, Inflammatory, And Hif-Regulated Genes And Thrombosis Risk In Polycythemia Vera And Essential Thrombocythemia, Radhika Gangaraju, Jihyun Song, Soo Jin Kim, Tsewang Tashi, Brandi N Reeves, Krishna M Sundar, Perumal Thiagarajan, Josef T Prchal

Faculty, Staff and Students Publications

Thrombosis is a major cause of morbidity and mortality in polycythemia vera (PV) and essential thrombocythemia (ET). The pathophysiology of thrombosis in these disorders remains unclear, and we hypothesized that upregulation of thrombotic, inflammatory, and hypoxia-inducible factor (HIF)-regulated genes may play a role in it. We performed unbiased RNA sequencing in granulocytes and platelets of PV patients and found differential expression of several thrombotic, inflammatory, and HIF-regulated genes. The expression of many of these genes positively correlated with JAK2 expression and JAK2V617F allelic burden. We then validated these findings by quantitative polymerase chain reaction analyses of selected gene transcripts in …

Discovery Of A Bacterial Peptide As A Modulator Of Glp-1 And Metabolic Disease, Catherine Tomaro-Duchesneau, Stephanie L Levalley, Daniel Roeth, Liang Sun, Frank T Horrigan, Markus Kalkum, Joseph M Hyser, Robert A Britton

Faculty, Staff and Students Publications

Early work in rodents highlighted the gut microbiota's importance in metabolic disease, including Type II Diabetes Mellitus (T2DM) and obesity. Glucagon-like peptide-1 (GLP-1), an incretin secreted by L-cells lining the gastrointestinal epithelium, has important functions: promoting insulin secretion, insulin sensitivity, and β-cell mass, while inhibiting gastric emptying and appetite. We set out to identify microbial strains with GLP-1 stimulatory activity as potential metabolic disease therapeutics. Over 1500 human-derived strains were isolated from healthy individuals and screened for GLP-1 modulation by incubating bacterial cell-free supernatants with NCI H716 L-cells. Approximately 45 strains capable of increasing GLP-1 were discovered. All GLP-1 positive …

Pain Squad+ Smartphone App To Support Real-Time Pain Treatment For Adolescents With Cancer: Protocol For A Randomised Controlled Trial., Lindsay Jibb, Paul C Nathan, Vicky Breakey, Conrad Fernandez, Donna Johnston, Victor Lewis, Sarah Mckillop, Serina Patel, Christine Sabapathy, Caron Strahlendorf, J Charles Victor, Myla E Moretti, Cynthia Nguyen, Amos Hundert, Celia Cassiani, Graziella El-Khechen Richandi, Hayley Insull, Rachel Hamilton, Geoffrey Fang, Susan Kuczynski, Jennifer Stinson

Paediatrics Publications

INTRODUCTION: Pain negatively affects the health-related quality of life (HRQL) of adolescents with cancer. The Pain Squad+ smartphone-based application (app), has been developed to provide adolescents with real-time pain self-management support. The app uses a validated pain assessment and personalised pain treatment advice with centralised decision support via a registered nurse to enable real-time pain treatment in all settings. The algorithm informing pain treatment advice is evidence-based and expert-vetted. This trial will longitudinally evaluate the impact of Pain Squad+, with or without the addition of nurse support, on adolescent health and cost outcomes.

METHODS AND ANALYSIS: This will be a …

Public Social Media Consultations For Dermatologic Conditions: An Online Survey, Elizabeth Schoenberg, Doaa Shalabi, Jordan Wang, Nazanin Saedi, Matthew Keller

Department of Dermatology and Cutaneous Biology Faculty Papers

The use of social media in medicine has been increasingly studied in recent years, especially concerning its role in patient outreach, education, diagnosis, and management. Dermatology is a unique field in that patients can post photographs of their skin ailments when seeking online medical advice and information. This study examines the role of public social media consultations for dermatologic conditions. A large portion of patients utilize social media for dermatologic consultations and many do not seek care from a dermatologist afterward. Future studies should trend this phenomenon, especially as the use of social media continues to expand.

Circulating Leptin Levels Are Associated With Adiposity In Survivors Of Childhood Brain Tumors., E Danielle Sims, William J. Jennings, Brianna Empringham, Adam Fleming, Carol Portwine, Donna L. Johnston, Shayna M. Zelcer, Shahrad Rod Rassekh, Sarah Burrow, Lehana Thabane, M Constantine Samaan

Paediatrics Publications

Survivors of Childhood Brain Tumors (SCBT) are at a higher risk of developing cardiovascular disease and type 2 diabetes compared to the general population. Adiposity is an important risk factor for the development of these outcomes, and identifying biomarkers of adiposity may help the stratification of survivors based on their cardiovascular risk or allow for early screening and interventions to improve cardiometabolic outcomes. Leptin is an adipokine that positively correlates with the adipose mass in the general population and is a predictor of adverse cardiometabolic outcomes, yet its association with adiposity in SCBT has not been studied. The aim of …

Error-Corrected Sequencing Strategies Enable Comprehensive Detection Of Leukemic Mutations Relevant For Diagnosis And Minimal Residual Disease Monitoring, Erin L Crowgey, Nitin Mahajan, Wing Hing Wong, Anilkumar Gopalakrishnapillai, Sonali P Barwe, E Anders Kolb, Todd E Druley

2020-Current year OA Pubs

BACKGROUND: Pediatric leukemias have a diverse genomic landscape associated with complex structural variants, including gene fusions, insertions and deletions, and single nucleotide variants. Routine karyotype and fluorescence in situ hybridization (FISH) techniques lack sensitivity for smaller genomic alternations. Next-generation sequencing (NGS) assays are being increasingly utilized for assessment of these various lesions. However, standard NGS lacks quantitative sensitivity for minimal residual disease (MRD) surveillance due to an inherently high error rate.

METHODS: Primary bone marrow samples from pediatric leukemia (n = 32) and adult leukemia subjects (n = 5), cell line MV4-11, and an umbilical cord sample were utilized for …

Predictors Of Bicuspid Aortic Valve-Associated Aortopathy In Childhood: A Report From The Mibava Consortium, Michael Grattan, Andrea Prince, Rawan K Rumman, Conall Morgan, Michele Petrovic, Amanda Hauck, Luciana Young, Anders Franco-Cereceda, Bart Loeys, Salah A Mohamed, Harry Dietz, Seema Mital, Chun-Po Steve Fan, Cedric Manlhiot, Gregor Andelfinger, Luc Mertens

Paediatrics Publications

BACKGROUND: Bicuspid aortic valve (BAV) is the most prevalent congenital heart defect affecting 1% to 2% of the population. It is associated with ascending aorta dilatation. Valve morphology, aortic stenosis (AS), and aortic insufficiency (AI) have been proposed as potential risk factors; however, evaluating their role is difficult, as these factors are inherently related. The aim of this study was to determine whether BAV morphology and dysfunction are independent determinants for ascending aorta dilatation in pediatric patients.

METHODS: A multicenter, retrospective, cross-sectional study of pediatric BAV patients followed since 2004 was performed. Imaging data were assessed for BAV morphology, severity …