Digital Commons Network^™

The Comfort Of Destiny, Jeremy A Ross

The Texas Heart Institute Journal

No abstract provided.

Speckle-Tracking Echocardiography In Cardio-Oncology And Beyond, Raymundo A Quintana, Linh P Bui, Rohit Moudgil, Nicolas Palaskas, Saamir Hassan, Jun-Ichi Abe, Elie Mouhayar, Syed Wamique Yusuf, Antonieta Hernandez, Jose Banchs

The Texas Heart Institute Journal

Speckle-tracking echocardiography has enabled clinicians to detect changes in myocardial function with more sensitivity than that afforded by traditional diastolic and systolic functional measurements, including left ventricular ejection fraction. Speckle-tracking echocardiography enables evaluation of myocardial strain in terms of strain (percent change in length of a myocardial segment relative to its length at baseline) and strain rate (strain per unit of time). Both measurements have potential for use in diagnosing and monitoring the cardiovascular side effects of cancer therapy. Regional and global strain measurements can independently predict outcomes not only in patients who experience cardiovascular complications of cancer and cancer …

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%, …

Modified Danielson Technique For Prosthetic Aortic Valve Endocarditis And Aortoventricular Discontinuity, Gianfranco Filippone, Claudia Calia, Mario Finazzo, Fabio Fazzari, Giovanni Caruana, Vincenzo Argano

The Texas Heart Institute Journal

Endocarditis is a devastating complication of prosthetic aortic valve replacement. The infective process can destroy aortic annulus tissue, making conventional surgical valve replacement difficult or impossible and causing aortoventricular discontinuity. Several treatment techniques have been proposed. One of these, the Danielson technique, involves translocating the aortic valve to the native ascending aorta, débriding the abscess cavity, closing the coronary ostia, and bypassing the coronary arteries with a Y anastomosis between 2 vein grafts. We describe our use of a modified Danielson technique in a 68-year-old man with advanced prosthetic valve endocarditis that was associated with aortic annulus destruction and aortoventricular …

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

The Texas Heart Institute Journal

No abstract provided.

Provider Attitudes And Practice Patterns For Direct-Acting Antiviral Therapy For Patients With Hepatocellular Carcinoma, Nicole E Rich, Ju Dong Yang, Ponni V Perumalswami, Naim Alkhouri, Whitney Jackson, Neehar D Parikh, Neil Mehta, Reena Salgia, Andres Duarte-Rojo, Laura Kulik, Mina Rakoski, Adnan Said, Omobonike Oloruntoba, George N Ioannou, Maarouf A Hoteit, Andrew M Moon, Amol S Rangnekar, Sheila L Eswaran, Elizabeth Zheng, Janice H Jou, James Hanje, Anjana Pillai, Ruben Hernaez, Robert Wong, Steven Scaglione, Hrishikesh Samant, Devika Kapuria, Shaun Chandna, Russell Rosenblatt, Veeral Ajmera, Catherine T Frenette, Sanjaya K Satapathy, Parvez Mantry, Prasun Jalal, Binu V John, Oren K Fix, Michael Leise, Christina C Lindenmeyer, Avegail Flores, Nayan Patel, Z Gordon Jiang, Nyan Latt, Renumathy Dhanasekaran, Mobolaji Odewole, Sofia Kagan, Jorge A Marrero, Amit G Singal

Faculty, Staff and Students Publications

BACKGROUND & AIMS: Direct-acting antivirals (DAAs) are effective against hepatitis C virus and sustained virologic response is associated with reduced incidence of hepatocellular carcinoma (HCC). However, there is controversy over the use of DAAs in patients with active or treated HCC and uncertainty about optimal management of these patients. We aimed to characterize attitudes and practice patterns of hepatology practitioners in the United States regarding the use of DAAs in patients with HCC.

METHODS: We conducted a survey of hepatology providers at 47 tertiary care centers in 25 states. Surveys were sent to 476 providers and we received 279 responses …

Tortuosity-Powered Microfluidic Device For Assessment Of Thrombosis And Antithrombotic Therapy In Whole Blood, David J Luna, Navaneeth K R Pandian, Tanmay Mathur, Justin Bui, Pranav Gadangi, Vadim V Kostousov, Shiu-Ki Rocky Hui, Jun Teruya, Abhishek Jain

Faculty, Staff and Students Publications

Accurate assessment of blood thrombosis and antithrombotic therapy is essential for the management of patients in a variety of clinical conditions, including surgery and on extracorporeal life support. However, current monitoring devices do not measure the effects of hemodynamic forces that contribute significantly to coagulation, platelet function and fibrin formation. This limits the extent to which current assays can predict clotting status in patients. Here, we demonstrate that a biomimetic microfluidic device consisting stenosed and tortuous arteriolar vessels would analyze blood clotting under flow, while requiring a small blood volume. When the device is connected to an inline pressure sensor …

Cofilin-1-Induced Actin Reorganization In Stored Platelets, Swapan K Dasgupta, Perumal Thiagarajan

Faculty, Staff and Students Publications

BACKGROUND: During platelet storage, there are extensive changes in cytoskeleton and phosphatidylserine exposure. The intrinsic mitochondrial pathway of apoptosis, activated in stored platelets, is a major mediator these changes. Cofilin-1 is an effector of actin reorganization. We examined the effect of cofilin-1 deficiency on cytoskeleton and phosphatidylserine exposure during storage and following activation of apoptosis.

METHODS AND RESULTS: We assessed actin filaments by Alexa-647-phalloidin and phosphatidylserine exposure by fluorescein isothiocyanate-lactadherin by fluorescence microscopy. In fresh platelets, actin filaments are distributed in the subcortical region, and they do not express phosphatidylserine in the outer surface. In stored platelets, there is retraction …

Defining A Taxonomy Of Intracranial Hypertension: Is Icp More Than Just A Number?, W Andrew Kofke, Swarna Rajagopalan, Diana Ayubcha, Ramani Balu, Jovany Cruz-Navarro, Panumart Manatpon, Elizabeth Mahanna-Gabrielli

Faculty, Staff and Students Publications

Intracranial pressure (ICP) monitoring and control is a cornerstone of neuroanesthesia and neurocritical care. However, because elevated ICP can be due to multiple pathophysiological processes, its interpretation is not straightforward. We propose a formal taxonomy of intracranial hypertension, which defines ICP elevations into 3 major pathophysiological subsets: increased cerebral blood volume, masses and edema, and hydrocephalus. (1) Increased cerebral blood volume increases ICP and arises secondary to arterial or venous hypervolemia. Arterial hypervolemia is produced by autoregulated or dysregulated vasodilation, both of which are importantly and disparately affected by systemic blood pressure. Dysregulated vasodilation tends to be worsened by arterial …

System Reliability Analysis Of The Scoliosis Disorder., Fatemeh Nouri, Seyed Hooman Ghasemi, Ji Yun Lee

Henry M. Rowan College of Engineering Departmental Research

BACKGROUND: Scoliosis is a spine abnormal deviation, which is an idiopathic disorder among children and adolescents. As a matter of the fact, distribution of loads on the patient's spine and load-carrying capacity of the vertebral column are both random variables. Therefore, the probabilistic approach may consider as a sophisticated method to deal with this problem.

METHOD: Reliability analysis is a probabilistic-based approach to consider the uncertainties of load and resistance of the vertebral column. The main contribution of this paper is to compare the reliability level of a normal and scoliosis spinal. To do so, the numerical analyses associated with …

Urgent Need For Individual Mobile Phone And Institutional Reporting Of At Home, Hospitalized, And Intensive Care Unit Cases Of Sars-Cov-2 (Covid-19) Infection, Peter A. Mccullough, John Eidt, Janani Rangaswami, Edgar Lerma, James Tumlin, Kevin Wheelan, Nevin Katz, Norman E. Lepor, Kris Vijay, Sandeep Soman, Bhupinder Singh, Sean P. Mccullough, Haley B. Mccullough, Alberto Palazzuoli, Gaetano M. Ruocco, Claudio Ronco

Nephrology Articles

Approximately 90 days of the SARS-CoV-2 (COVID-19) spreading originally from Wuhan, China, and across the globe has led to a widespread chain of events with imminent threats to the fragile relationship between community health and economic health. Despite near hourly reporting on this crisis, there has been no regular, updated, or accurate reporting of hospitalizations for COVID-19. It is known that many test-positive individuals may not develop symptoms or have a mild self-limited viral syndrome consisting of fever, malaise, dry cough, and constitutional symptoms. However some individuals develop a more fulminant syndrome including viral pneumonia, respiratory failure requiring oxygen, acute …

Hepatitis B Virus Hbx Protein Mediates The Degradation Of Host Restriction Factors Through The Cullin 4 Ddb1 E3 Ubiquitin Ligase Complex, Marissa M Minor, F Blaine Hollinger, Adrienne L Mcnees, Sung Yun Jung, Antrix Jain, Joseph M Hyser, Karl-Dimiter Bissig, Betty L Slagle

Faculty, Staff and Students Publications

The hepatitis B virus (HBV) regulatory HBx protein is required for infection, and its binding to cellular damaged DNA binding protein 1 (DDB1) is critical for this function. DDB1 is an adaptor protein for the cullin 4A Really Interesting New Gene (RING) E3 ubiquitin ligase (CRL4) complex and functions by binding cellular DDB1 cullin associated factor (DCAF) receptor proteins that recruit substrates for ubiquitination and degradation. We compared the proteins found in the CRL4 complex immunoprecipitated from uninfected versus HBV-infected hepatocytes from human liver chimeric mice for insight into mechanisms by which HBV and the cell interact within the CRL4 …

Social Comparison Features In Physical Activity Promotion Apps: Scoping Meta-Review., Danielle Arigo, Megan M Brown, Kristen Pasko, Jerry Suls

College of Science & Mathematics Departmental Research

BACKGROUND: Smartphone apps promoting physical activity (PA) are abundant, but few produce substantial and sustained behavior change. Although many PA apps purport to induce users to compare themselves with others (by invoking social comparison processes), improvements in PA and other health behaviors are inconsistent. Existing literature suggests that social comparison may motivate PA for some people under some circumstances. However, 2 aspects of work that apply social comparison theory to PA apps remain unclear: (1) how comparison processes have been operationalized or harnessed in existing PA apps and (2) whether incorporating sources of variability in response to comparison have been …

Ten Simple Rules For Providing Effective Bioinformatics Research Support., Judit Kumuthini, Michael Chimenti, Sven Nahnsen, Alexander Peltzer, Rebone Meraba, Ross Mcfadyen, Gordon Wells, Deanne Taylor, Mark Maienschein-Cline, Jian-Liang Li, Jyothi Thimmapuram, Radha Murthy-Karuturi, Lyndon Zass

Faculty Research 2020

Life scientists are increasingly turning to high-throughput sequencing technologies in their research programs, owing to the enormous potential of these methods. In a parallel manner, the number of core facilities that provide bioinformatics support are also increasing. Notably, the generation of complex large datasets has necessitated the development of bioinformatics support core facilities that aid laboratory scientists with cost-effective and efficient data management, analysis, and interpretation. In this article, we address the challenges-related to communication, good laboratory practice, and data handling-that may be encountered in core support facilities when providing bioinformatics support, drawing on our own experiences working as support …

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.

The Mk2 Pathway Is Linked To G-Csf, Cytokine Production And Metastasis In Gastric Cancer: A Novel Intercorrelation Analysis Approach, Fares Qeadan, Pranshu Bansal, Joshua A. Hanson, Ellen J. Beswick

Pathology Research and Scholarship

BACKGROUND: Gastric cancer is associated with chronic inflammation, but there is still much to understand about the tumor microenvironment and the underlying tumor-promoting mechanisms. The Map kinase-activated protein kinase 2 (MK2) pathway is a regulator of inflammatory cytokine production that we have been studying in gastrointestinal cancers. Here, we set out to determine the significance of this gene in gastric cancer along with its downstream mediators and if there were differences in the primary tumors with and without metastasis.

METHODS: Human gastric cancer tissues with and without metastasis were examined for MK2 expression and cytokine profile in organ culture supernatants. …

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 …

Clinical Performance Of The Novel Genmark Dx Eplex Blood Culture Id Gram-Positive Panel, Karen C. Carroll, Jennifer L. Reid, Adam Thornberg, Natalie N. Whitfield, Deirdre Trainor, Shawna Lewis, Teresa Wakefield, Thomas E. Davis, Keisha G. Church, Linoj Samuel, Ray Mills, Patricia Jim, Stephen Young, Frederick S. Nolte

Pathology Research and Scholarship

Rapid identification from positive blood cultures is standard of care (SOC) in many clinical microbiology laboratories. The GenMark Dx ePlex Blood Culture Identification Gram-Positive (BCID-GP) Panel is a multiplex nucleic acid amplification assay based on competitive DNA hybridization and electrochemical detection using eSensor technology. This multicenter study compared the investigational-use-only (IUO) BCID-GP Panel to other methods of identification of 20 Gram-positive bacteria, four antimicrobial resistance genes, and both Pan

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 …

Pediatric Resident Knowledge, Experience, Comfort, And Perceived Competency In Providing Sibling Psychosocial Support., David Buchbinder, Sonam Sidhu, Melissa A. Alderfer, Anne Lown, Russ C. Kolarik, Tommy Wang

Department of Pediatrics Faculty Papers

This article is the author’s final published version in International Journal of Medical Education, Volume 11, March 2020, Pages 73-75.

The published version is available at https://doi.org/10.5116/ijme.5e63.6a46. Copyright © Buchbinder et al.

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 …

The Sineb1 Element In The Long Non-Coding Rna Malat1 Is Necessary For Tdp-43 Proteostasis, Tuan M Nguyen, Elena B Kabotyanski, Lucas C Reineke, Jiaofang Shao, Feng Xiong, Joo-Hyung Lee, Julien Dubrulle, Hannah Johnson, Fabio Stossi, Phoebe S Tsoi, Kyoung-Jae Choi, Alexander G Ellis, Na Zhao, Jin Cao, Oluwatoyosi Adewunmi, Josephine C Ferreon, Allan Chris M Ferreon, Joel R Neilson, Michael A Mancini, Xi Chen, Jongchan Kim, Li Ma, Wenbo Li, Jeffrey M Rosen

Faculty, Staff and Students Publications

Transposable elements (TEs) comprise a large proportion of long non-coding RNAs (lncRNAs). Here, we employed CRISPR to delete a short interspersed nuclear element (SINE) in Malat1, a cancer-associated lncRNA, to investigate its significance in cellular physiology. We show that Malat1 with a SINE deletion forms diffuse nuclear speckles and is frequently translocated to the cytoplasm. SINE-deleted cells exhibit an activated unfolded protein response and PKR and markedly increased DNA damage and apoptosis caused by dysregulation of TDP-43 localization and formation of cytotoxic inclusions. TDP-43 binds stronger to Malat1 without the SINE and is likely 'hijacked' by cytoplasmic Malat1 to the …

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 …

Adolescent Interventions To Manage Self-Regulation In Type 1 Diabetes (Aims-T1d): Randomized Control Trial Study Protocol., Alison L Miller, Sharon L Lo, Dana K. Albright Phd, Joyce M Lee, Christine M Hunter, Katherine W Bauer, Rosalind King, Katy M Clark, Kiren Chaudhry, Niko Kaciroti, Benjamin Katz, Emily M Fredericks

Health Services and Informatics Research

BACKGROUND: Self-regulation (SR), or the capacity to control one's thoughts, emotions, and behaviors in order to achieve a desired goal, shapes health outcomes through many pathways, including supporting adherence to medical treatment regimens. Type 1 Diabetes (T1D) is one specific condition that requires SR to ensure adherence to daily treatment regimens that can be arduous and effortful (e.g., monitoring blood glucose). Adolescents, in particular, have poor adherence to T1D treatment regimens, yet it is essential that they assume increased responsibility for managing their T1D as they approach young adulthood. Adolescence is also a time of rapid changes in SR capacity …

Evaluation Of Dna Methylation Episignatures For Diagnosis And Phenotype Correlations In 42 Mendelian Neurodevelopmental Disorders., Erfan Aref-Eshghi, Jennifer Kerkhof, Victor P Pedro, Mouna Barat-Houari, Nathalie Ruiz-Pallares, Jean-Christophe Andrau, Didier Lacombe, Julien Van-Gils, Patricia Fergelot, Christèle Dubourg, Valerie Cormier-Daire, Sophie Rondeau, François Lecoquierre, Pascale Saugier-Veber, Gaël Nicolas, Gaetan Lesca, Nicolas Chatron, Damien Sanlaville, Antonio Vitobello, Laurence Faivre, Christel Thauvin-Robinet, Frederic Laumonnier, Martine Raynaud, Mariëlle Alders, Marcel Mannens, Peter Henneman, Raoul C Hennekam, Guillaume Velasco, Claire Francastel, Damien Ulveling, Andrea Ciolfi, Simone Pizzi, Marco Tartaglia, Solveig Heide, Delphine Héron, Cyril Mignot, Boris Keren, Sandra Whalen, Alexandra Afenjar, Thierry Bienvenu, Philippe M Campeau, Justine Rousseau, Michael A Levy, Lauren Brick, Mariya Kozenko, Tugce B Balci, Victoria Mok Siu, Alan Stuart, Mike Kadour, Jennifer Masters, Kyoko Takano, Tjitske Kleefstra, Nicole De Leeuw, Michael Field, Marie Shaw, Jozef Gecz, Peter J Ainsworth, Hanxin Lin, David I Rodenhiser, Michael J Friez, Matt Tedder, Jennifer A Lee, Barbara R Dupont, Roger E Stevenson, Steven A Skinner, Charles E Schwartz, David Genevieve, Bekim Sadikovic

Paediatrics Publications

Genetic syndromes frequently present with overlapping clinical features and inconclusive or ambiguous genetic findings which can confound accurate diagnosis and clinical management. An expanding number of genetic syndromes have been shown to have unique genomic DNA methylation patterns (called "episignatures"). Peripheral blood episignatures can be used for diagnostic testing as well as for the interpretation of ambiguous genetic test results. We present here an approach to episignature mapping in 42 genetic syndromes, which has allowed the identification of 34 robust disease-specific episignatures. We examine emerging patterns of overlap, as well as similarities and hierarchical relationships across these episignatures, to highlight …

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 …

Frontal Volume As A Potential Source Of The Comorbidity Between Attention-Deficit/Hyperactivity Disorder And Reading Disorders., Michelle Y Kibby, Sarah M Dyer, Sylvia E Lee, Maria Stacy

Publications

Prefrontal volume reductions commonly are demonstrated in ADHD, but the literature examining prefrontal volume in reading disorders (RD) is scant despite their also having executive functioning (EF) deficits. Furthermore, only a few anatomical studies have examined the frontal lobes in comorbid RD/ADHD, though they have EF deficits similar to RD and ADHD. Hence, we examined frontal gyri volume in children with RD, ADHD, RD/ADHD and controls, as well as their relationship to EF for gyri found to differ between groups. We found right inferior frontal (RIF) volume was smaller in ADHD, and smaller volume was related to worse behavioral regulation. …

Assessing And Expanding The Evidence Base For Project Echo And Echo-Like Models: Findings Of A Technical Expert Panel., Laura J Faherty, Adam J Rose, Andre Chappel, Caroline Taplin, Monique Martineau, Shira H Fischer

Project ECHO Bibliography

BACKGROUND: In 2003, Project ECHO (Extension for Community Healthcare Outcomes) began using technology-enabled collaborative models of care to help general practitioners in rural settings manage hepatitis C. Today, ECHO and ECHO-like models (EELM) have been applied to a variety of settings and health conditions, but the evidence base underlying EELM is thin, despite widespread enthusiasm for the model.

METHODS: In April 2018, a technical expert panel (TEP) meeting was convened to assess the current evidence base for EELM and identify ways to strengthen it.

RESULTS: TEP members identified four strategies for future implementors and evaluators of EELM to address key …