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5 results on '"Marilyn Glassberg"'

1. Cough-Specific Quality of Life Predicts Disease Progression Among Patients With Interstitial Lung Disease

Author

Janet Lee, Emily White, Elizabeth Freiheit, Mary Beth Scholand, Mary E. Strek, Anna J. Podolanczuk, Nina M. Patel, Rebecca Bascom, Elizabeth Belloli, Nitin Bhatt, Sangeeta Bhorade, Amy Case, Richard Castriotta, Gerard Criner, Sonye Danoff, Joao De Andrade, Alpa Desai, Marilyn Glassberg, Craig Glazer, Mridu Gulati, Nishant Gupta, Mark Hamblin, Tristan Huie, Robert Kaner, Daniel Kass, Hyun Kim, Maryl Kreider, Lisa Lancaster, Joseph Lasky, Andrew Limper, Sydney Montesi, Joshua Mooney, Lake Morrison, Anoop Nambiar, Steven Nathan, Bhupinder Natt, Tessy Paul, Rafael Perez, Anna Podolanczuk, Ganesh Raghu, Adrian Shifren, Mary Strek, Nevins Todd, Rajat Walia, Stephen Weight, Timothy Whelan, and Paul Wolters

Subjects
Pulmonary and Respiratory Medicine, Cardiology and Cardiovascular Medicine, Critical Care and Intensive Care Medicine
Published
2022
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2. Idiopathic pulmonary fibrosis is associated with common genetic variants and limited rare variants

Author

Anna L. Peljto, Rachel Z. Blumhagen, Avram D. Walts, Jonathan Cardwell, Julia Powers, Tamera J. Corte, Joanne L. Dickinson, Ian Glaspole, Yuben P. Moodley, Martina Koziar Vasakova, Elisabeth Bendstrup, Jesper R. Davidsen, Raphael Borie, Bruno Crestani, Philippe Dieude, Francesco Bonella, Ulrich Costabel, Gunnar Gudmundsson, Seamas C. Donnelly, Jim Egan, Michael T. Henry, Michael P. Keane, Marcus P. Kennedy, Cormac McCarthy, Aoife N. McElroy, Joshua A. Olaniyi, Katherine M. A. O’Reilly, Luca Richeldi, Paolo M. Leone, Venerino Poletti, Francesco Puppo, Sara Tomassetti, Valentina Luzzi, Nurdan Kokturk, Nesrin Mogulkoc, Christine A. Fiddler, Nikhil Hirani, R. Gisli Jenkins, Toby M. Maher, Philip L. Molyneaux, Helen Parfrey, Rebecca Braybrooke, Timothy S. Blackwell, Peter D. Jackson, Steven D. Nathan, Mary K. Porteous, Kevin K. Brown, Jason D. Christie, Harold R. Collard, Oliver Eickelberg, Elena E. Foster, Kevin F. Gibson, Marilyn Glassberg, Daniel J. Kass, Jonathan A. Kropski, David Lederer, Angela L. Linderholm, Jim Loyd, Susan K. Mathai, Sydney B. Montesi, Imre Noth, Justin M. Oldham, Amy J. Palmisciano, Cristina A. Reichner, Mauricio Rojas, Jesse Roman, Neil Schluger, Barry S. Shea, Jeffrey J. Swigris, Paul J. Wolters, Yingze Zhang, Cecilia M. A. Prele, Juan I. Enghelmayer, Maria Otaola, Christopher J. Ryerson, Mauricio Salinas, Martina Sterclova, Tewodros H. Gebremariam, Marjukka Myllärniemi, Roberto G. Carbone, Haruhiko Furusawa, Masaki Hirose, Yoshikazu Inoue, Yasunari Miyazaki, Ken Ohta, Shin Ohta, Tsukasa Okamoto, Dong Soon Kim, Annie Pardo, Moises Selman, Alvaro U. Aranda, Moo Suk Park, Jong Sun Park, Jin Woo Song, Maria Molina-Molina, Lurdes Planas-Cerezales, Gunilla Westergren-Thorsson, Albert V. Smith, Ani W. Manichaikul, John S. Kim, Stephen S. Rich, Elizabeth C. Oelsner, R. Graham Barr, Jerome I. Rotter, Josee Dupuis, George O’Connor, Ramachandran S. Vasan, Michael H. Cho, Edwin K. Silverman, Marvin I. Schwarz, Mark P. Steele, Joyce S. Lee, Ivana V. Yang, Tasha E. Fingerlin, and David A. Schwartz

Subjects
Pulmonary and Respiratory Medicine, Whole Genome Sequencing, Settore MED/10 - MALATTIE DELL'APPARATO RESPIRATORIO, Critical Care and Intensive Care Medicine, Interstitial Lung Disease, TOPMed, Telomerase, Genetic Association Studies
Abstract

Rationale: Idiopathic pulmonary fibrosis is a rare, irreversible, and progressive disease of the lungs. Common genetic variants, in addition to non-genetic factors, have been consistently associated with IPF. Rare variants identified by candidate gene, family-based, and exome studies have also been reported to associate with IPF. However, the extent to which rare variants genome-wide may contribute to the risk of IPF remains unknown. Objectives: We used whole-genome sequencing to investigate the role of rare variants, genome-wide, on IPF risk. Methods: As part of the Trans-Omics for Precision Medicine Program, we sequenced 2,180 cases of IPF. Association testing focused on the aggregated effect of rare variants (minor allele frequency ≤0.01) within genes or regions. We also identified individual variants that are influential within genes and estimated the heritability of IPF based on rare and common variants. Measurements and Main Results: Rare variants in both TERT and RTEL1 were significantly associated with IPF. A single rare variant in each of the TERT and RTEL1 genes was found to consistently influence the aggregated test statistics. There was no significant evidence of association with other previously reported rare variants. The SNP-heritability of IPF was estimated to be 32% (s.e. 3%). Conclusions: Rare variants within the TERT and RTEL1 genes and well-established common variants have the largest contribution to IPF risk overall. Efforts in risk profiling or development of therapies for IPF that focus on TERT, RTEL1, common variants, and environmental risk factors are likely to have the largest impact on this complex disease.

Published
2023

3. Disease Severity and Quality of Life in Patients With Idiopathic Pulmonary Fibrosis

Author

Emily C. O’Brien, Anne S. Hellkamp, Megan L. Neely, Aparna Swaminathan, Shaun Bender, Laurie D. Snyder, Daniel A. Culver, Craig S. Conoscenti, Jamie L. Todd, Scott M. Palmer, Thomas B. Leonard, Wael Asi, Albert Baker, Scott Beegle, John A. Belperio, Rany Condos, Francis Cordova, Joao A.M. de Andrade, Daniel Dilling, Kevin R. Flaherty, Marilyn Glassberg, Mridu Gulati, Kalpalatha Guntupalli, Nishant Gupta, Amy Hajari Case, David Hotchkin, Tristan Huie, Robert Kaner, Hyun Kim, Maryl Kreider, Lisa Lancaster, Joseph Lasky, David Lederer, Doug Lee, Timothy Liesching, Randolph Lipchik, Jason Lobo, Yolanda Mageto, Prema Menon, Lake Morrison, Andrew Namen, Justin Oldham, Rishi Raj, Murali Ramaswamy, Tonya Russell, Paul Sachs, Zeenat Safdar, Barry Sigal, Leann Silhan, Mary Strek, Sally Suliman, Jeremy Tabak, Rajat Walia, and Timothy P. Whelan

Subjects
Pulmonary and Respiratory Medicine, medicine.medical_specialty, Population, Critical Care and Intensive Care Medicine, 03 medical and health sciences, FEV1/FVC ratio, Idiopathic pulmonary fibrosis, 0302 clinical medicine, Quality of life, DLCO, Interquartile range, EQ-5D, Diffusing capacity, Internal medicine, Medicine, 030212 general & internal medicine, education, education.field_of_study, business.industry, respiratory system, medicine.disease, humanities, respiratory tract diseases, 030228 respiratory system, Cardiology and Cardiovascular Medicine, business
Abstract

Background Limited data are available on the association between clinically measured disease severity markers and quality of life (QOL) in idiopathic pulmonary fibrosis (IPF). The study examined the associations between objective disease severity metrics and QOL in a contemporary IPF population. Methods This study evaluated baseline data from patients enrolled in the multicenter, US-based Idiopathic Pulmonary Fibrosis Prospective Outcomes Registry between June 2014 and July 2018. Disease severity metrics included FVC % predicted, diffusing capacity for carbon monoxide (Dlco) % predicted, supplemental oxygen use with activity, supplemental oxygen use at rest, and two summary scores (the Gender-Age-Lung Physiology index, based on gender, age, and % predicted values for Dlco and FVC; and the Composite Physiologic Index, based on % predicted values for Dlco, FVC, and FEV1). Multivariable adjusted regression models were used to examine cross-sectional associations between each severity measure and St. George's Respiratory Questionnaire (SGRQ) total score. Results Among 829 patients with complete SGRQ data, the median (interquartile range) SGRQ score at enrollment was 40 (26-53), with higher scores indicating worse QOL. Modest SGRQ impairments were observed with increasing Gender-Age-Lung Physiology score (2.9 [1.8-4.0] per 1-point increase] and with increasing Composite Physiologic Index scores (3.0 [2.4-3.6] per 5-point increase). Substantial SGRQ impairments were observed for oxygen use with activity (15.6 [12.9-18.2]), oxygen use at rest (16.2 [13.0-19.4]), and decreasing Dlco (5.0 [4.0-6.1] per 10% decrease in % predicted). Conclusions Objective measures of disease severity, including severity scores, physiologic parameters, and supplemental oxygen use, are associated with worse QOL in patients with IPF. Trial Registry ClinicalTrials.gov; No.: NCT01915511; URL: www.clinicaltrials.gov.

Published
2020
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5. Effects of Octreotide in Patients With Lymphangioleiomyomatosis

Author

Rachel Latibeaudiere and Marilyn Glassberg Csete

Subjects
Pulmonary and Respiratory Medicine, medicine.medical_specialty, business.industry, Octreotide, Critical Care and Intensive Care Medicine, medicine.disease, Gastroenterology, Internal medicine, Lymphangioleiomyomatosis, Medicine, In patient, Cardiology and Cardiovascular Medicine, business, medicine.drug
Published
2017
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