Digital Commons Network^™

Clinical Application Of Genome And Exome Sequencing As A Diagnostic Tool For Pediatric Patients: A Scoping Review Of The Literature, Hadley Stevens Smith, J Michael Swint, Seema R Lalani, Jose-Miguel Yamal, Marcia C De Oliveira Otto, Stephan Castellanos, Amy Taylor, Brendan H Lee, Heidi V Russell

Library Staff Publications

PURPOSE: Availability of clinical genomic sequencing (CGS) has generated questions about the value of genome and exome sequencing as a diagnostic tool. Analysis of reported CGS application can inform uptake and direct further research. This scoping literature review aims to synthesize evidence on the clinical and economic impact of CGS.

METHODS: PubMed, Embase, and Cochrane were searched for peer-reviewed articles published between 2009 and 2017 on diagnostic CGS for infant and pediatric patients. Articles were classified according to sample size and whether economic evaluation was a primary research objective. Data on patient characteristics, clinical setting, and outcomes were extracted and …

Risk Mitigation For Travelers: Managing Endemic And Emerging Threats, Shannon M. Wood, David Brett-Major

Journal Articles: Epidemiology

International travel continues to increase in numbers and complexity. Despite the availability of pretravel health advice, travelers remain at risk for exposure to common organisms as well as emerging pathogens. With low rates of travel clinic utilization, it is important for the general practitioner to remain aware of the importance of travel health, risk factors unique to individual patients, and evolving threats. This review highlights important considerations when evaluating ill travelers, incorporating emerging infectious threats.

Training As An Intervention To Decrease Medical Record Abstraction Errors Multicenter Studies., Meredith Nahm Zozus, Leslie W. Young, Alan E. Simon, Maryam Garza, Lora Lawrence, Songthip T. Ounpraseuth, Megan Bledsoe, Sarah Newman-Norlund, J Dean Jarvis, Mary Mcnally, Kimberly R. Harris, Russell Mcculloh, Rachel Aikman, Sara Cox, Lacy Malloch, Anita Walden, Jessica Snowden, Irene Mangan Chedjieu, Chester A. Wicker, Lauren Atkins, Lori A. Devlin

Manuscripts, Articles, Book Chapters and Other Papers

Studies often rely on medical record abstraction as a major source of data. However, data quality from medical record abstraction has long been questioned. Electronic Health Records (EHRs) potentially add variability to the abstraction process due to the complexity of navigating and locating study data within these systems. We report training for and initial quality assessment of medical record abstraction for a clinical study conducted by the IDeA States Pediatric Clinical Trials Network (ISPCTN) and the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) Neonatal Research Network (NRN) using medical record abstraction as the primary data …

Pediatric Dermatology Workforce In The United States., Brea Prindaville, Kimberly A. Horii, Elaine C. Siegfried, Heather Brandling-Bennett

Manuscripts, Articles, Book Chapters and Other Papers

Studies have suggested there is a shortage of pediatric dermatologists in the United States, but the workforce has not been well defined. The Society for Pediatric Dermatology (SPD) Workforce Committee sought to characterize the US pediatric dermatology workforce with a nine-question survey, sent to all 484 US SPD members in December 2016. The response rate was 30%. Most pediatric dermatologists were practicing in major metropolitan markets, seeing an average of 80 patients a week with an average 6-week wait time. These findings indicate that geographic maldistribution and long wait times for new patient appointments remain substantial hurdles for adequate access …

Genomic Prediction Of Relapse In Recipients Of Allogeneic Haematopoietic Stem Cell Transplantation., J Ritari, K Hyvärinen, S Koskela, M Itälä-Remes, R Niittyvuopio, A Nihtinen, U Salmenniemi, M Putkonen, L Volin, T Kwan, T Pastinen, J Partanen

Manuscripts, Articles, Book Chapters and Other Papers

Allogeneic haematopoietic stem cell transplantation currently represents the primary potentially curative treatment for cancers of the blood and bone marrow. While relapse occurs in approximately 30% of patients, few risk-modifying genetic variants have been identified. The present study evaluates the predictive potential of patient genetics on relapse risk in a genome-wide manner. We studied 151 graft recipients with HLA-matched sibling donors by sequencing the whole-exome, active immunoregulatory regions, and the full MHC region. To assess the predictive capability and contributions of SNPs and INDELs, we employed machine learning and a feature selection approach in a cross-validation framework to discover the …

Standardized Bedside Handoff: One Organization's Journey., Shanon Fucik

Manuscripts, Articles, Book Chapters and Other Papers

No abstract provided.

Weaning Of Moderately Preterm Infants From The Incubator To The Crib: A Randomized Clinical Trial., Seetha Shankaran, Edward F. Bell, Abbot R. Laptook, Shampa Saha, Nancy S. Newman, S Nadya J Kazzi, John Barks, Barbara J. Stoll, Rebecca Bara, Jenna Gabrio, Kirsten Childs, Abhik Das, Rosemary D. Higgins, Waldemar A. Carlo, Pablo J. Sánchez, David P. Carlton, Lara Pavageau, William F. Malcolm, Carl T. D'Angio, Robin K. Ohls, Brenda B. Poindexter, Gregory M. Sokol, Krisa P. Van Meurs, Tarah T. Colaizy, Ayman Khmour, Karen M. Puopolo, Meena Garg, Michele C. Walsh, Eunice Kennedy Shriver National Institute Of Child Health, And Human Development Neonatal Research Network, William E. Truog, Eugenia K. Pallotto, Howard Kilbride, Cheri Gauldin, Anne Holmes, K Johnson

Manuscripts, Articles, Book Chapters and Other Papers

OBJECTIVE: To assess whether length of hospital stay is decreased among moderately preterm infants weaned from incubator to crib at a lower vs higher weight.

STUDY DESIGN: This trial was conducted in the Eunice Kennedy Shriver National Institute of Child Health and Human Development Neonatal Research Network. Infants with gestational ages 29-33 weeks, birthweightg, and in an incubator were randomly assigned to a weaning weight of 1600 or 1800 g. Within 60 to 100 g of weaning weight, the incubator temperature was decreased by 1.0°C to 1.5°C every 24 hours until 28.0°C. The infants were weaned to the crib following …

Human And Nonhuman Animals: Towards Equality, Catherine Price

Animal Sentience

Chapman & Huffman argue that we should not consider humans as unique and superior to nonhuman animals. Ecofeminism advocates the respectful treatment of humans, nonhuman animals, and the environment.

Steroid Therapy And Outcome Of Parapneumonic Pleural Effusions (Stoppe): Study Protocol For A Multicenter, Double-Blinded, Placebo-Controlled Randomized Clinical Trial, Deirdre B. Fitzgerald, Grant W. Waterer, Catherine A. Read, Edward T. Fysh, Ranjan Shrestha, Christopher Stanley, Sanjeevan Muruganandan, Norris S. H. Lan, Natalia D. Popowicz, Carolyn J. Peddle-Mcintyre, Najib M. Rahman, Seng Khee Gan, Kevin Murray, Yun Chor Gary Lee

Research outputs 2014 to 2021

BACKGROUND: Community-acquired pneumonia (CAP) is a major global disease. Parapneumonic effusions often complicate CAP and range from uninfected (simple) to infected (complicated) parapneumonic effusions and empyema (pus). CAP patients who have a pleural effusion at presentation are more likely to require hospitalization, have a longer length of stay and higher mortality than those without an effusion. Conventional management of pleural infection, with antibiotics and chest tube drainage, fails in about 30% of cases. Several randomized controlled trials (RCT) have evaluated the use of corticosteroids in CAP and demonstrated some potential benefits. Importantly, steroid use in pneumonia has an acceptable safety …

Humans Of St. Norbert: Austin Marcks ‘21, Austin Marcks

Humans of St. Norbert

Based on the phenomenon "Humans of New York," Humans of St. Norbert mirrors the photoblog, featuring photos and interviews of people on campus.

Humans Of St. Norbert: Jerry Komas ’20, Jerry Komas

Humans of St. Norbert

Based on the phenomenon "Humans of New York," Humans of St. Norbert mirrors the photoblog, featuring photos and interviews of people on campus.

Humans Of St. Norbert: Ruthie Tucker ‘22, Ruthie Tucker

Humans of St. Norbert

Based on the phenomenon "Humans of New York," Humans of St. Norbert mirrors the photoblog, featuring photos and interviews of people on campus.

Humans Of St. Norbert: Ibrahim Mahmound, Ibrahim Mahmound

Humans of St. Norbert

Based on the phenomenon "Humans of New York," Humans of St. Norbert mirrors the photoblog, featuring photos and interviews of people on campus.

Humans Of St. Norbert: Molley Muenster ‘11, Molly Muenster

Humans of St. Norbert

Based on the phenomenon "Humans of New York," Humans of St. Norbert mirrors the photoblog, featuring photos and interviews of people on campus.

Humans Of St. Norbert: Mason Vanrossum ‘20, Mason Vanrossum

Humans of St. Norbert

Based on the phenomenon "Humans of New York," Humans of St. Norbert mirrors the photoblog, featuring photos and interviews of people on campus.

Humans Of St. Norbert: Hannah Saiz, Hannah Saiz

Humans of St. Norbert

Based on the phenomenon "Humans of New York," Humans of St. Norbert mirrors the photoblog, featuring photos and interviews of people on campus.

Humans Of St. Norbert: Graeme Gallagher ‘20, Graeme Gallagher

Humans of St. Norbert

Based on the phenomenon "Humans of New York," Humans of St. Norbert mirrors the photoblog, featuring photos and interviews of people on campus.

Humans Of St. Norbert: Craig Ford, Craig Ford

Humans of St. Norbert

Based on the phenomenon "Humans of New York," Humans of St. Norbert mirrors the photoblog, featuring photos and interviews of people on campus.

Humans Of St. Norbert: Lauren Gentine ‘20, Lauren Gentine

Humans of St. Norbert

Based on the phenomenon "Humans of New York," Humans of St. Norbert mirrors the photoblog, featuring photos and interviews of people on campus.

Humans Of St. Norbert: Carolyne Roepke ‘20, Carolyn Roepke

Humans of St. Norbert

Based on the phenomenon "Humans of New York," Humans of St. Norbert mirrors the photoblog, featuring photos and interviews of people on campus.

Humans Of St. Norbert: Rochelle Van Erem, Rochelle Van Erem

Humans of St. Norbert

Based on the phenomenon "Humans of New York," Humans of St. Norbert mirrors the photoblog, featuring photos and interviews of people on campus.

The Copy Number Variation Landscape Of Congenital Anomalies Of The Kidney And Urinary Tract., Miguel Verbitsky, Rik Westland, Alejandra Perez, Krzysztof Kiryluk, Qingxue Liu, Priya Krithivasan, Adele Mitrotti, David A. Fasel, Ekaterina Batourina, Matthew G. Sampson, Monica Bodria, Max Werth, Charlly Kao, Jeremiah Martino, Valentina P. Capone, Asaf Vivante, Shirlee Shril, Byum Hee Kil, Maddalena Marasà, Jun Y. Zhang, Young-Ji Na, Tze Y. Lim, Dina Ahram, Patricia L. Weng, Erin L. Heinzen, Alba Carrea, Giorgio Piaggio, Loreto Gesualdo, Valeria Manca, Giuseppe Masnata, Maddalena Gigante, Daniele Cusi, Claudia Izzi, Francesco Scolari, Joanna A E Van Wijk, Marijan Saraga, Domenico Santoro, Giovanni Conti, Pasquale Zamboli, Hope White, Dorota Drozdz, Katarzyna Zachwieja, Monika Miklaszewska, Marcin Tkaczyk, Daria Tomczyk, Anna Krakowska, Przemyslaw Sikora, Tomasz Jarmoliński, Maria K. Borszewska-Kornacka, Robert Pawluch, Maria Szczepanska, Piotr Adamczyk, Malgorzata Mizerska-Wasiak, Grazyna Krzemien, Agnieszka Szmigielska, Marcin Zaniew, Mark G. Dobson, John M. Darlow, Prem Puri, David E. Barton, Susan L. Furth, Bradley A. Warady, Zoran Gucev, Vladimir J. Lozanovski, Velibor Tasic, Isabella Pisani, Landino Allegri, Lida M. Rodas, Josep M. Campistol, Cécile Jeanpierre, Shumyle Alam, Pasquale Casale, Craig S. Wong, Fangming Lin, Débora M. Miranda, Eduardo A. Oliveira, Ana Cristina Simões-E-Silva, Jonathan M. Barasch, Brynn Levy, Nan Wu, Friedhelm Hildebrandt, Gian Marco Ghiggeri, Anna Latos-Bielenska, Anna Materna-Kiryluk, Feng Zhang, Hakon Hakonarson, Virginia E. Papaioannou, Cathy L. Mendelsohn, Ali G. Gharavi, Simone Sanna-Cherchi

Manuscripts, Articles, Book Chapters and Other Papers

Congenital anomalies of the kidney and urinary tract (CAKUT) are a major cause of pediatric kidney failure. We performed a genome-wide analysis of copy number variants (CNVs) in 2,824 cases and 21,498 controls. Affected individuals carried a significant burden of rare exonic (that is, affecting coding regions) CNVs and were enriched for known genomic disorders (GD). Kidney anomaly (KA) cases were most enriched for exonic CNVs, encompassing GD-CNVs and novel deletions; obstructive uropathy (OU) had a lower CNV burden and an intermediate prevalence of GD-CNVs; and vesicoureteral reflux (VUR) had the fewest GD-CNVs but was enriched for novel exonic CNVs, …

The Relationship Between Physical Activity And Cardiorespiratory Fitness Among People Living With Human Immunodeficiency Virus Throughout The Life Span, Allison R. Webel, Joseph Perazzo, J. Craig Phillips, Kathleen M. Nokes, Cynthia Rentrope, Rebecca Schnall, Rita Musanti, Kimberly Adams Tufts, Elizabeth Sefcik, Mary Jane Hamilton, Carmen Portillo, Puangtip Chaiphibalsarisdi, Penelope Orton, Liana Davis, Carol Dawson Rose

Ellmer School of Nursing Faculty Publications

BACKGROUND: People living with human immunodeficiency virus (PLHIV) are at an increased risk for developing cardiovascular disease (CVD). Physical activity and cardiorespiratory fitness in PLHIV are poorly understood.

OBJECTIVE: The aims of this study were to describe physical activity and cardiorespiratory fitness by sex and age and to examine the association between physical activity and cardiorespiratory fitness in PLHIV, controlling for covariates.

METHODS: Seven hundred two PLHIV participated in a cross-sectional study and completed validated measures of self-reported physical activity (7-day Physical Activity Recall) and cardiorespiratory fitness (6-minute walk test). Participants were recruited from 7 diverse sites in the United …

Development And Validation Of A Prediction Model For Fat Mass In Children And Adolescents: Meta-Analysis Using Individual Participant Data, Mohammed T. Hudda, Mary S. Fewtrell, Dalia Haroun, Sooky Lum, Jane E. Williams, Jonathan C.K. Wells, Richard D. Riley, Christopher G. Owen, Derek G. Cook, Alicja R. Rudnicka, Peter H. Whincup, Claire M. Nightingale

All Works

© Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to. To develop and validate a prediction model for fat mass in children aged 4-15 years using routinely available risk factors of height, weight, and demographic information without the need for more complex forms of assessment. Design Individual participant data meta-analysis. Setting Four population based cross sectional studies and a fifth study for external validation, United Kingdom. Participants A pooled derivation dataset (four studies) of 2375 children and an external validation dataset of 176 children with complete data on …

Thinking Outside Of The Box Ii: Disrupting The Cognitive Map., Matthew G. Buckley, Alastair D. Smith, Mark Haselgrove

School of Psychology

A number of influential spatial learning theories posit that organisms encode a viewpoint independent (i.e. allocentric) representation of the global boundary shape of their environment in order to support spatial reorientation and place learning. In contrast to the trial and error learning mechanisms that support domain-general processes, a representation of the global-shape of the environment is thought to be encoded automatically as part of a cognitive map, and without interference from other spatial cues. To date, however, this core theoretical assumption has not been appropriately examined. This is because previous attempts to address this question have failed to employ tasks …

Optimum Recording Time Of Routine Electroencephalogram For Adults With Epilepsy*, Kemal Tutkavul, Yilmaz Çeti̇nkaya

Turkish Journal of Medical Sciences

Background/aim: This study aimed to reveal the optimum recording time of routine electroencephalogram (EEG) for adults with epilepsy.Materials and methods: In this clinical observational study we investigated features of paroxysms that emerged in EEGs recorded for 45 min in adults with epilepsy.Results: Paroxysms were detected in 38.14% of 97 patients. The probability of occurrence of paroxysm during the first 10 min was found to be statistically significantly low in comparison to the first 30 and 45 min (respectively P = 0.004, P = 0.0001). This probability was found to increase insignificantly when comparing the first 20 min with the first …

Saturated Fat Intake Is Associated With Lung Function In Individuals With Airflow Obstruction: Results From Nhanes 2007⁻2012, Kasey Cornell, Morshed Alam, Elizabeth Lyden, Lisa Wood, Tricia D. Levan, Tara M. Nordgren, Kristina L. Bailey, Corrine K. Hanson

Journal Articles: Biostatistics

Nutritional status is a well-recognized prognostic indicator in chronic obstructive pulmonary disease (COPD); however, very little is known about the relationship between lung function and saturated fat intake. We used data from the cross-sectional National Health and Nutrition Examination Surveys (NHANES) to assess the relationship between saturated fatty acid (SFA) intake and lung function in the general US adult population. Adults in NHANES (2007⁻2012) with pre-bronchodilator spirometry measurements and dietary SFA intake were included. Primary outcomes were lung function including forced expiratory volume in one second (FEV₁)

The Mitochondrial Deoxyguanosine Kinase Is Required For Cancer Cell Stemness In Lung Adenocarcinoma, Shengchen Lin, Chongbiao Huang, Jianwei Sun, Oana Bollt, Xiuchao Wang, Eric Martine, Jiaxin Kang, Matthew D. Taylor, Bin Fang, Pankaj K. Singh, John Koomen, Jihui Hao, Shengyu Yang

Journal Articles: Eppley Institute

The mitochondrial deoxynucleotide triphosphate (dNTP) is maintained by the mitochondrial deoxynucleoside salvage pathway and dedicated for the mtDNA homeostasis, and the mitochondrial deoxyguanosine kinase (DGUOK) is a rate-limiting enzyme in this pathway. Here, we investigated the role of the DGUOK in the self-renewal of lung cancer stem-like cells (CSC). Our data support that DGUOK overexpression strongly correlates with cancer progression and patient survival. The depletion of DGUOK robustly inhibited lung adenocarcinoma tumor growth, metastasis, and CSC self-renewal. Mechanistically, DGUOK is required for the biogenesis of respiratory complex I and mitochondrial OXPHOS, which in turn regulates CSC self-renewal through AMPK-YAP1 signaling. …

Inhibition Of Geranylgeranyl Diphosphate Synthase Is A Novel Therapeutic Strategy For Pancreatic Ductal Adenocarcinoma, Staci L. Haney, Michelle L. Varney, Yashpal S. Chhonker, Simon Shin, Kamiya Mehla, Ayrianne J. Crawford, Heather Jensen Smith, Lynette M. Smith, Daryl J. Murry, Michael A. Hollingsworth, Sarah A. Holstein

Journal Articles: Eppley Institute

Rab proteins play an essential role in regulating intracellular membrane trafficking processes. Rab activity is dependent upon geranylgeranylation, a post-translational modification that involves the addition of 20-carbon isoprenoid chains via the enzyme geranylgeranyl transferase (GGTase) II. We have focused on the development of inhibitors against geranylgeranyl diphosphate synthase (GGDPS), which generates the isoprenoid donor (GGPP), as anti-Rab agents. Pancreatic ductal adenocarcinoma (PDAC) is characterized by abnormal mucin production and these mucins play important roles in tumor development, metastasis and chemo-resistance. We hypothesized that GGDPS inhibitor (GGDPSi) treatment would induce PDAC cell death by disrupting mucin trafficking, thereby inducing the unfolded …

Imaging-Based Clusters In Former Smokers Of The Copd Cohort Associate With Clinical Characteristics: The Subpopulations And Intermediate Outcome Measures In Copd Study (Spiromics), Babak Haghighi, Sanghun Choi, Jiwoong Choi, Eric A. Hoffman, Alejandro P. Comellas, John D. Newell, Chang Hyun Lee, R. Graham Barr, Eugene Bleecker, Christopher B. Cooper, David Couper, Mei Lan Han, Nadia N. Hansel, Richard E. Kanner, Ella A. Kazerooni, Eric A.C. Kleerup, Fernando J. Martinez, Wanda O'Neal, Robert Paine, Stephen I. Rennard, Benjamin M. Smith, Prescott G. Woodruff, Ching-Long Lin

Journal Articles: Pulmonary & Critical Care Med

BACKGROUND: Quantitative computed tomographic (QCT) imaging-based metrics enable to quantify smoking induced disease alterations and to identify imaging-based clusters for current smokers. We aimed to derive clinically meaningful sub-groups of former smokers using dimensional reduction and clustering methods to develop a new way of COPD phenotyping.

METHODS: An imaging-based cluster analysis was performed for 406 former smokers with a comprehensive set of imaging metrics including 75 imaging-based metrics. They consisted of structural and functional variables at 10 segmental and 5 lobar locations. The structural variables included lung shape, branching angle, airway-circularity, airway-wall-thickness, airway diameter; the functional variables included regional ventilation, …