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6. Implementing evidence-based assertions of clinical actionability in the context of secondary findings: Updates from the ClinGen Actionability Working Group

Author

Pak, Christine M., Gilmore, Marian J., Bulkley, Joanna E., Chakraborty, Pranesh, Dagan-Rosenfeld, Orit, Foreman, Ann Katherine M., Gollob, Michael H., Jenkins, Charisma L., Katz, Alexander E., Lee, Kristy, Meeks, Naomi, O’Daniel, Julianne M., Posey, Jennifer E., Rego, Shannon M., Shah, Neethu, Steiner, Robert D., Stergachis, Andrew B., Subramanian, Sai Lakshmi, Trotter, Tracy, Wallace, Kathleen, Williams, Marc S., Goddard, Katrina A.B., Buchanan, Adam H., Manickam, Kandamurugu, Powell, Bradford, and Ezzell Hunter, Jessica

Published
2024
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9. International interlaboratory compilation of trace element concentrations in the CUP-2 uranium ore concentrate standard

Author

Denton, Joanna S., Bostick, Debra A., Boulyga, Sergei F., Cunningham, J. Alan, Dimayuga, Ike, Hexel, Cole R., Hiess, Joe, Jovanovic, Slobodan V., Kaye, Philip, Kell, Tara, Kelly, Fiona, Kinman, William, Kiser, Stephen, Lindvall, Rachel E., Macsik, Zsuzsanna, Manard, Benjamin T., Mayer, Klaus, Mercier, Jean-Francois, Samuleev, Pavel, Saull, Patrick R. B., Shi, Youqing, Steiner, Robert. E., Ticknor, Brian W., Totland, Marina, Varga, Zsolt, Wallenius, Maria, and Wylie, E. Miller

Published
2023
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22. Relationship between 2-Hour Tacrolimus Concentrations and Clinical Outcomes in Long Term Kidney Transplantation.

Author

Yin, Jeffrey, Hsu, Tammy, Kerr, Janice S, Steiner, Robert, and Awdishu, Linda

Subjects
drug monitoring, kidney transplantation, tacrolimus, Pharmacology and Pharmaceutical Sciences
Abstract

Background: Tacrolimus is routinely monitored using trough concentrations, however, recent data have suggested that area under the curve (AUC) provides better correlation with toxicity and efficacy. Area under the curve is cumbersome to measure, but studies have demonstrated that surrogate time points such as 2-hour concentrations are well correlated with AUC. Methods: This is a single center, retrospective study of adult kidney transplant recipients with 2-hour tacrolimus concentrations measured over three years post-transplant. The primary outcome was to determine the difference in serum creatinine (Scr) in those with 2-hour tacrolimus concentrations greater than 20 ng/mL versus those less than or equal to 20 ng/mL. Results: A total of 150 kidney transplant recipients were included. The mean Scr and glomerular filtration rate were 1.49 ± 1.01 mg/dL and 59 ± 23.2 ml/min/1.73 m2, respectively, for the entire cohort. The rate of donor specific antibody formation was 2% and 8% experienced biopsy-proven rejection. The rate of cytomegalovirus viremia was 2% and BK viremia was 13%. There was no significant difference in kidney function over 36 months for the groups specified a priori. Conclusions: Long-term outcomes of maintaining tacrolimus 2-hour concentrations over 20 ng/mL is favorable with minimal opportunistic infections.

Published
2020

23. COPDGene® 2019: Redefining the Diagnosis of Chronic Obstructive Pulmonary Disease.

Author

Lowe, Katherine E, Regan, Elizabeth A, Anzueto, Antonio, Austin, Erin, Austin, John HM, Beaty, Terri H, Benos, Panayiotis V, Benway, Christopher J, Bhatt, Surya P, Bleecker, Eugene R, Bodduluri, Sandeep, Bon, Jessica, Boriek, Aladin M, Boueiz, Adel Re, Bowler, Russell P, Budoff, Matthew, Casaburi, Richard, Castaldi, Peter J, Charbonnier, Jean-Paul, Cho, Michael H, Comellas, Alejandro, Conrad, Douglas, Costa Davis, Corinne, Criner, Gerard J, Curran-Everett, Douglas, Curtis, Jeffrey L, DeMeo, Dawn L, Diaz, Alejandro A, Dransfield, Mark T, Dy, Jennifer G, Fawzy, Ashraf, Fleming, Margaret, Flenaugh, Eric L, Foreman, Marilyn G, Fortis, Spyridon, Gebrekristos, Hirut, Grant, Sarah, Grenier, Philippe A, Gu, Tian, Gupta, Abhya, Han, MeiLan K, Hanania, Nicola A, Hansel, Nadia N, Hayden, Lystra P, Hersh, Craig P, Hobbs, Brian D, Hoffman, Eric A, Hogg, James C, Hokanson, John E, Hoth, Karin F, Hsiao, Albert, Humphries, Stephen, Jacobs, Kathleen, Jacobson, Francine L, Kazerooni, Ella A, Kim, Victor, Kim, Woo Jin, Kinney, Gregory L, Koegler, Harald, Lutz, Sharon M, Lynch, David A, MacIntye, Neil R, Make, Barry J, Marchetti, Nathaniel, Martinez, Fernando J, Maselli, Diego J, Mathews, Anne M, McCormack, Meredith C, McDonald, Merry-Lynn N, McEvoy, Charlene E, Moll, Matthew, Molye, Sarah S, Murray, Susan, Nath, Hrudaya, Newell, John D, Occhipinti, Mariaelena, Paoletti, Matteo, Parekh, Trisha, Pistolesi, Massimo, Pratte, Katherine A, Putcha, Nirupama, Ragland, Margaret, Reinhardt, Joseph M, Rennard, Stephen I, Rosiello, Richard A, Ross, James C, Rossiter, Harry B, Ruczinski, Ingo, San Jose Estepar, Raul, Sciurba, Frank C, Sieren, Jessica C, Singh, Harjinder, Soler, Xavier, Steiner, Robert M, Strand, Matthew J, Stringer, William W, Tal-Singer, Ruth, Thomashow, Byron, Vegas Sánchez-Ferrero, Gonzalo, and Walsh, John W

Subjects
COPD Genetic Epidemiology study, preserved ratio-impaired spirometry, COPD diagnosis, COPD diagnosis, COPDGene, GOLD, Global initiative for chronic Obstructive Lung Dis, PRISm, chronic obstructive pulmonary disease, copd, preserved ratio-impaired spirometry, spirometry, Prevention, Tobacco Smoke and Health, Tobacco, Lung, Chronic Obstructive Pulmonary Disease, Biomedical Imaging, Clinical Research, 4.2 Evaluation of markers and technologies, Detection, screening and diagnosis, 4.1 Discovery and preclinical testing of markers and technologies, Respiratory, Good Health and Well Being, COPD, COPD Genetic Epidemiology study, Global initiative for chronic Obstructive Lung Disease
Abstract

BackgroundChronic obstructive pulmonary disease (COPD) remains a major cause of morbidity and mortality. Present-day diagnostic criteria are largely based solely on spirometric criteria. Accumulating evidence has identified a substantial number of individuals without spirometric evidence of COPD who suffer from respiratory symptoms and/or increased morbidity and mortality. There is a clear need for an expanded definition of COPD that is linked to physiologic, structural (computed tomography [CT]) and clinical evidence of disease. Using data from the COPD Genetic Epidemiology study (COPDGene®), we hypothesized that an integrated approach that includes environmental exposure, clinical symptoms, chest CT imaging and spirometry better defines disease and captures the likelihood of progression of respiratory obstruction and mortality.MethodsFour key disease characteristics - environmental exposure (cigarette smoking), clinical symptoms (dyspnea and/or chronic bronchitis), chest CT imaging abnormalities (emphysema, gas trapping and/or airway wall thickening), and abnormal spirometry - were evaluated in a group of 8784 current and former smokers who were participants in COPDGene® Phase 1. Using these 4 disease characteristics, 8 categories of participants were identified and evaluated for odds of spirometric disease progression (FEV1 > 350 ml loss over 5 years), and the hazard ratio for all-cause mortality was examined.ResultsUsing smokers without symptoms, CT imaging abnormalities or airflow obstruction as the reference population, individuals were classified as Possible COPD, Probable COPD and Definite COPD. Current Global initiative for obstructive Lung Disease (GOLD) criteria would diagnose 4062 (46%) of the 8784 study participants with COPD. The proposed COPDGene® 2019 diagnostic criteria would add an additional 3144 participants. Under the new criteria, 82% of the 8784 study participants would be diagnosed with Possible, Probable or Definite COPD. These COPD groups showed increased risk of disease progression and mortality. Mortality increased in patients as the number of their COPD characteristics increased, with a maximum hazard ratio for all cause-mortality of 5.18 (95% confidence interval [CI]: 4.15-6.48) in those with all 4 disease characteristics.ConclusionsA substantial portion of smokers with respiratory symptoms and imaging abnormalities do not manifest spirometric obstruction as defined by population normals. These individuals are at significant risk of death and spirometric disease progression. We propose to redefine the diagnosis of COPD through an integrated approach using environmental exposure, clinical symptoms, CT imaging and spirometric criteria. These expanded criteria offer the potential to stimulate both current and future interventions that could slow or halt disease progression in patients before disability or irreversible lung structural changes develop.

Published
2019

24. Prevalence of abnormal spirometry in individuals with a smoking history and no known obstructive lung disease

Author

Crapo, James D., Silverman, Edwin K., Make, Barry J., Regan, Elizabeth A., Beaty, Terri H., Castaldi, Peter J., Cho, Michael H., DeMeo, Dawn L., El Boueiz, Adel, Foreman, Marilyn G., Ghosh, Auyon, Hayden, Lystra P., Hersh, Craig P., Hetmanski, Jacqueline, Hobbs, Brian D., Hokanson, John E., Kim, Wonji, Laird, Nan, Lange, Christoph, Lutz, Sharon M., McDonald, Merry-Lynn, Prokopenko, Dmitry, Moll, Matthew, Morrow, Jarrett, Qiao, Dandi, Saferali, Aabida, Sakornsakolpat, Phuwanat, Wan, Emily S., Yun, Jeong, Centeno, Juan Pablo, Charbonnier, Jean-Paul, Coxson, Harvey O., Galban, Craig J., Han, MeiLan K., Hoffman, Eric A., Humphries, Stephen, Jacobson, Francine L., Judy, Philip F., Kazerooni, Ella A., Kluiber, Alex, Lynch, David A., Nardelli, Pietro, Newell, John D., Jr., Notary, Aleena, Oh, Andrea, Ross, James C., San Jose Estepar, Raul, Schroeder, Joyce, Sieren, Jered, Stoel, Berend C., Tschirren, Juerg, Van Beek, Edwin, van Ginneken, Bram, van Rikxoort, Eva, Sanchez Ferrero, Gonzalo Vegas, Veitel, Lucas, Washko, George R., Wilson, Carla G., Jensen, Robert, Everett, Douglas, Crooks, Jim, Pratte, Katherine, Strand, Matt, Austin, Erin, Kinney, Gregory, Young, Kendra A., Bhatt, Surya P., Bon, Jessica, Diaz, Alejandro A., Make, Barry, Murray, Susan, Regan, Elizabeth, Soler, Xavier, Bowler, Russell P., Kechris, Katerina, BanaeiKashani, Farnoush, Curtis, Jeffrey L., Pernicano, Perry G., Hanania, Nicola, Atik, Mustafa, Boriek, Aladin, Guntupalli, Kalpatha, Guy, Elizabeth, Parulekar, Amit, Hersh, Craig, Washko, George, Barr, R. Graham, Austin, John, D'Souza, Belinda, Thomashow, Byron, MacIntyre, Neil, Jr., McAdams, H. Page, Washington, Lacey, McEvoy, Charlene, Tashjian, Joseph, Wise, Robert, Brown, Robert, Hansel, Nadia N., Horton, Karen, Lambert, Allison, Putcha, Nirupama, Casaburi, Richard, Adami, Alessandra, Budoff, Matthew, Fischer, Hans, Porszasz, Janos, Rossiter, Harry, Stringer, William, Sharafkhaneh, Amir, Lan, Charlie, Wendt, Christine, Bell, Brian, Kunisaki, Ken M., Flenaugh, Eric L., Gebrekristos, Hirut, Ponce, Mario, Terpenning, Silanath, Westney, Gloria, Bowler, Russell, Rosiello, Richard, Pace, David, Criner, Gerard, Ciccolella, David, Cordova, Francis, Dass, Chandra, D'Alonzo, Gilbert, Desai, Parag, Jacobs, Michael, Kelsen, Steven, Kim, Victor, Mamary, A. James, Marchetti, Nathaniel, Satti, Aditi, Shenoy, Kartik, Steiner, Robert M., Swift, Alex, Swift, Irene, Vega-Sanchez, Maria Elena, Dransfield, Mark, Bailey, William, Iyer, Anand, Nath, Hrudaya, Wells, J. Michael, Conrad, Douglas, Yen, Andrew, Comellas, Alejandro P., Hoth, Karin F., Newell, John, Jr., Thompson, Brad, Kazerooni, Ella, Labaki, Wassim, Galban, Craig, Vummidi, Dharshan, Billings, Joanne, Begnaud, Abbie, Allen, Tadashi, Sciurba, Frank, Chandra, Divay, Weissfeld, Joel, Anzueto, Antonio, Adams, Sandra, Maselli-Caceres, Diego, Ruiz, Mario E., Singh, Harjinder, Tran, Thuonghien V., Kinney, Gregory L., Comellas, Alejandro, Baldomero, Arianne K., Hokanson, John, and Fortis, Spyridon

Published
2023
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25. Clinical Markers Associated With Risk of Suicide or Drug Overdose Among Individuals With Smoking Exposure: A Longitudinal Follow-up Study of the COPDGene Cohort

Author

Crapo, James D., Silverman, Edwin K., Make, Barry J., Regan, Elizabeth A., Beaty, Terri H., Castaldi, Peter J., Cho, Michael H., DeMeo, Dawn L., El Boueiz, Adel, Foreman, Marilyn G., Ghosh, Auyon, Hayden, Lystra P., Hersh, Craig P., Hetmanski, Jacqueline, Hobbs, Brian D., Hokanson, John E., Kim, Wonji, Laird, Nan, Lange, Christoph, Lutz, Sharon M., McDonald, Merry-Lynn, Prokopenko, Dmitry, Moll, Matthew, Morrow, Jarrett, Qiao, Dandi, Saferali, Aabida, Sakornsakolpat, Phuwanat, Wan, Emily S., Yun, Jeong, Centeno, Juan Pablo, Charbonnier, Jean-Paul, Coxson, Harvey O., Galban, Craig J., Han, MeiLan K., Hoffman, Eric A., Humphries, Stephen, Jacobson, Francine L., Judy, Philip F., Kazerooni, Ella A., Kluiber, Alex, Lynch, David A., Nardelli, Pietro, Newell, John D., Jr., Notary, Aleena, Oh, Andrea, Ross, James C., San Jose Estepar, Raul, Schroeder, Joyce, Sieren, Jered, Stoel, Berend C., Tschirren, Juerg, Van Beek, Edwin, van Ginneken, Bram, van Rikxoort, Eva, Sanchez-Ferrero, Gonzalo Vegas, Veitel, Lucas, Washko, George R., Wilson, Carla G., Jensen, Robert, Strand, Matthew, Crooks, Jim, Pratte, Katherine, Khatiwada, Aastha, Austin, Erin, Kinney, Gregory, Young, Kendra A., Bhatt, Surya P., Bon, Jessica, Diaz, Alejandro A., Make, Barry, Murray, Susan, Regan, Elizabeth, Soler, Xavier, Bowler, Russell P., Kechris, Katerina, Banaei-Kashani, Farnoush, Curtis, Jeffrey L., Pernicano, Perry G., Hanania, Nicola, Atik, Mustafa, Boriek, Aladin, Guntupalli, Kalpatha, Guy, Elizabeth, Parulekar, Amit, Hersh, Craig, Washko, George, Barr, R. Graham, Austin, John, D’Souza, Belinda, Thomashow, Byron, MacIntyre, Neil, Jr., McAdams, H. Page, Washington, Lacey, McEvoy, Charlene, Tashjian, Joseph, Wise, Robert, Brown, Robert, Hansel, Nadia N., Horton, Karen, Lambert, Allison, Putcha, Nirupama, Casaburi, Richard, Adami, Alessandra, Budoff, Matthew, Fischer, Hans, Porszasz, Janos, Rossiter, Harry, Stringer, William, Sharafkhaneh, Amir, Lan, Charlie, Wendt, Christine, Bell, Brian, Kunisaki, Ken M., Flenaugh, Eric L., Gebrekristos, Hirut, Ponce, Mario, Terpenning, Silanath, Westney, Gloria, Bowler, Russell, Rosiello, Richard, Pace, David, Criner, Gerard, Ciccolella, David, Cordova, Francis, Dass, Chandra, D’Alonzo, Gilbert, Desai, Parag, Jacobs, Michael, Kelsen, Steven, Kim, Victor, Mamary, A. James, Marchetti, Nathaniel, Satti, Aditi, Shenoy, Kartik, Steiner, Robert M., Swift, Alex, Swift, Irene, Vega-Sanchez, Maria Elena, Dransfield, Mark, Bailey, William, Iyer, Anand, Nath, Hrudaya, Wells, J. Michael, Conrad, Douglas, Yen, Andrew, Comellas, Alejandro P., Hoth, Karin F., Newell, John, Jr., Thompson, Brad, Kazerooni, Ella, Labaki, Wassim, Galban, Craig, Vummidi, Dharshan, Billings, Joanne, Begnaud, Abbie, Allen, Tadashi, Sciurba, Frank, Chandra, Divay, Weissfeld, Joel, Anzueto, Antonio, Adams, Sandra, Maselli-Caceres, Diego, Ruiz, Mario E., Singh, Harjinder, Adviento, Brigid A., Iyer, Anand S., Kinney, Gregory L., Hanania, Nicola A., Lowe, Katherine E., Holm, Kristen E., Yohannes, Abebaw M., Shinozaki, Gen, and Fiedorowicz, Jess G.

Published
2023
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29. Comprehensive promotion of iPSC-CM maturation by integrating metabolic medium, nanopatterning, and electrostimulation

Author

Guan, Kaomei, primary, Li, Wener, additional, Luo, Xiaojing, additional, Strano, Anna, additional, Arun, Shakthi, additional, Gamm, Oliver, additional, Pötsch, Mareike, additional, Hasse, Marcel, additional, Steiner, Robert, additional, Fischer, Konstanze, additional, Pöche, Jessie, additional, Ulbricht, Ying, additional, Lesche, Mathias, additional, Trimaglio, Giulia, additional, El-Armouche, Ali, additional, Dahl, Andreas, additional, Mirtschink, Peter, additional, and Schubert, Mario, additional

Published
2024
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31. Sibling Recurrence Risk and Cross-aggregation of Attention-Deficit/Hyperactivity Disorder and Autism Spectrum Disorder

Author

Miller, Meghan, Musser, Erica D, Young, Gregory S, Olson, Brent, Steiner, Robert D, and Nigg, Joel T

Subjects
Paediatrics, Biomedical and Clinical Sciences, Prevention, Attention Deficit Hyperactivity Disorder (ADHD), Intellectual and Developmental Disabilities (IDD), Brain Disorders, Mental Health, Genetics, Behavioral and Social Science, Pediatric, Autism, Clinical Research, 2.4 Surveillance and distribution, 2.3 Psychological, social and economic factors, 2.1 Biological and endogenous factors, Aetiology, Mental health, Adolescent, Attention Deficit Disorder with Hyperactivity, Autism Spectrum Disorder, Child, Child, Preschool, Female, Gene-Environment Interaction, Genetic Predisposition to Disease, Humans, Male, Odds Ratio, Oregon, Recurrence, Risk Factors, Siblings, Washington
Abstract

ImportanceAttention-deficit/hyperactivity disorder (ADHD) and autism spectrum disorder (ASD) are believed to partially share genetic factors and biological influences. As the number of children with these diagnoses rises, so does the number of younger siblings at presumed risk for ADHD and ASD; reliable recurrence risk estimates within and across diagnoses may aid screening and early detection efforts and enhance understanding of potential shared causes.ObjectiveTo examine within-diagnosis sibling recurrence risk and sibling cross-aggregation of ADHD and ASD among later-born siblings of children with either disorder.Design, setting, and participantsUsing data extracted from medical records of 2 large health care systems in the United States, estimates of recurrence risk and cross-aggregation in later-born siblings of children with ADHD or ASD were compared with later-born siblings of children without these diagnoses. One data set included children seen between January 1, 1995, and December 31, 2013; the other included children born between January 1, 1998, and May 17, 2010. Participants included 15 175 later-born siblings of children with ADHD, ASD, and no known diagnosis. The study was conducted from October 2, 2017, to August 14, 2018.Main outcomes and measuresDiagnoses of ASD or ADHD in the later-born sibling, ascertained from medical records, were the primary outcomes of interest; moderators included sex, gestational age, and maternal age.ResultsA total of 15 175 later-born siblings were classified by familial risk status based on the older child's diagnostic status: ADHD risk (n = 730; male [51.92%]), ASD risk (n = 158; male [48.10%]), and no known risk (n = 14 287; male [50.73%]). Compared with later-born siblings of children without ADHD or ASD, later-born siblings of children with ASD were more likely to be diagnosed with ASD (odds ratio [OR], 30.38; 95% CI, 17.73-52.06) or ADHD in the absence of ASD (OR, 3.70; 95% CI, 1.67-8.21). Compared with later-born siblings of children without a diagnosis, later-born siblings of children with ADHD were more likely to be diagnosed with ADHD (OR, 13.05; 95% CI, 9.86-17.27) or ASD in the absence of ADHD (OR, 4.35; 95% CI, 2.43-7.79).Conclusions and relevanceLater-born siblings of children with ASD or ADHD appear to be at elevated risk for the same disorder, but also of being diagnosed with the other disorder. These findings provide further support for shared familial mechanisms underlying ASD and ADHD, which may be useful for genetic and prospective developmental studies. Later-born siblings of children with ADHD or ASD should be monitored for both conditions.

Published
2019

32. Growth characteristics in individuals with osteogenesis imperfecta in North America: results from a multicenter study

Author

Jain, Mahim, Tam, Allison, Shapiro, Jay R, Steiner, Robert D, Smith, Peter A, Bober, Michael B, Hart, Tracy, Cuthbertson, David, Krischer, Jeff, Mullins, Mary, Bellur, Sunil, Byers, Peter H, Pepin, Melanie, Durigova, Michaela, Glorieux, Francis H, Rauch, Frank, Lee, Brendan, Sutton, V Reid, , Members of the Brittle Bone Disorders Consortium*,, and Nagamani, Sandesh CS

Subjects
Osteogenesis Imperfecta, Nutrition, Pediatric, Obesity, Digestive Diseases, Prevention, Clinical Research, Congenital Structural Anomalies, Rare Diseases, Adolescent, Adult, Body Height, Body Mass Index, Body Weight, Child, Child, Preschool, Diphosphonates, Female, Humans, Male, North America, Pamidronate, Young Adult, Growth, Height, Natural history study, Osteogenesis imperfecta, Weight, Members of the Brittle Bone Disorders Consortium*, Genetics, Clinical Sciences, Genetics & Heredity
Abstract

PurposeOsteogenesis imperfecta (OI) predisposes people to recurrent fractures, bone deformities, and short stature. There is a lack of large-scale systematic studies that have investigated growth parameters in OI.MethodsUsing data from the Linked Clinical Research Centers, we compared height, growth velocity, weight, and body mass index (BMI) in 552 individuals with OI. Height, weight, and BMI were plotted on Centers for Disease Control and Prevention normative curves.ResultsIn children, the median z-scores for height in OI types I, III, and IV were -0.66, -6.91, and -2.79, respectively. Growth velocity was diminished in OI types III and IV. The median z-score for weight in children with OI type III was -4.55. The median z-scores for BMI in children with OI types I, III, and IV were 0.10, 0.91, and 0.67, respectively. Generalized linear model analyses demonstrated that the height z-score was positively correlated with the severity of the OI subtype (P

Published
2019

34. A multicenter study to evaluate pulmonary function in osteogenesis imperfecta

Author

Tam, Allison, Chen, Shan, Schauer, Evan, Grafe, Ingo, Bandi, Venkata, Shapiro, Jay R, Steiner, Robert D, Smith, Peter A, Bober, Michael B, Hart, Tracy, Cuthbertson, David, Krischer, Jeffrey, Mullins, Mary, Byers, Peter H, Sandhaus, Robert A, Durigova, Michaela, Glorieux, Francis H, Rauch, Frank, Sutton, Vernon Reid, Lee, Brendan, Consortium, Members of the Brittle Bone Disorders, Rush, Eric T, and Nagamani, Sandesh CS

Subjects
Congenital Structural Anomalies, Lung, Osteogenesis Imperfecta, Rare Diseases, Pediatric, Clinical Research, Good Health and Well Being, Adolescent, Adult, Aged, Child, Female, Forced Expiratory Volume, Humans, Male, Middle Aged, Respiratory Function Tests, Severity of Illness Index, Spirometry, Vital Capacity, Young Adult, lung disease, osteogenesis imperfecta, pulmonary function, spirometry, Members of the Brittle Bone Disorders Consortium, Genetics, Clinical Sciences, Genetics & Heredity
Abstract

Pulmonary complications are a significant cause for morbidity and mortality in osteogenesis imperfecta (OI). However, to date, there have been few studies that have systematically evaluated pulmonary function in individuals with OI. We analyzed spirometry measurements, including forced vital capacity (FVC) and forced expiratory volume in the first second (FEV1 ), in a large cohort of individuals with OI (n = 217) enrolled in a multicenter, observational study. We show that individuals with the more severe form of the disease, OI type III, have significantly reduced FVC and FEV1 which do not follow the expected trends of the normal population. We also show that "normalization" of FVC and FEV1 using general population data to generate percent predicted values underestimates the pulmonary involvement in OI. Within each subtype of OI, we used linear mixed models to find potential correlations between FEV1 and FVC with the clinical variables including mobility, bisphosphonate use, and scoliosis. Our results are an important step in understanding the extent of pulmonary involvement in individuals with OI and for developing pulmonary endpoints for use in the routine patient care as well as in the investigation of new therapies.

Published
2018

35. Coronary Artery Calcium on Noncontrast Thoracic Computerized Tomography Scans and All-Cause Mortality

Author

Budoff, Matthew J, Lutz, Sharon M, Kinney, Gregory L, Young, Kendra A, Hokanson, John E, Barr, R Graham, Steiner, Robert, Nath, Hrudaya, Lopez-Garcia, Carmen, Duca, Lindsey M, Rahmani, Sina, Osawa, Kazuhiro, Regan, Elizabeth A, Li, Dong, and Casaburi, Richard

Subjects
Biomedical and Clinical Sciences, Cardiovascular Medicine and Haematology, Clinical Sciences, Good Health and Well Being, Calcium, Coronary Vessels, Forced Expiratory Volume, Humans, Kaplan-Meier Estimate, Proportional Hazards Models, Pulmonary Disease, Chronic Obstructive, Risk Factors, Tomography, X-Ray Computed, calcium, cardiovascular disease, mortality, pulmonary disease, chronic obstructive, tomography, x-ray computed, pulmonary disease, chronic obstructive, tomography, x-ray computed, Cardiorespiratory Medicine and Haematology, Public Health and Health Services, Cardiovascular System & Hematology, Cardiovascular medicine and haematology, Clinical sciences, Sports science and exercise
Published
2018

36. Longitudinal Association Between Muscle Loss and Mortality in Ever Smokers

Author

Crapo, James D., Silverman, Edwin K., Cummings, Sara, Madden, Kelley, Make, Barry J., Nabbosa, Juliet, Port, Emily, Rashdi, Serine, Regan, Elizabeth A., Stepp, Lori, Watts, Shandi, Weaver, Michael, Beaty, Terri, Bowler, Russell P., Curtis, Jeffrey L., Han, MeiLan K., Hokanson, John E., Lynch, David A., Strand, Matthew J., Anderson, Gary, Bleecker, Eugene R., Coxson, Harvey O., Crystal, Ronald G., Hogg, James C., Province, Michael A., Rennard, Stephen I., Croxton, Thomas, Gan, Weiniu, Postow, Lisa A., Viviano, Lisa M., Costa-Davis, Corinne, Malanga, Elisha, Prieto, Delia, Tal-Singer, Ruth, Farzadegan, Homayoon, Hadji, Akila, Sathe, Leena, Baraghoshi, David, Chen, Grace, Crooks, James, Knowles, Ruthie, Pratte, Katherine, Wilson, Carla, Zelarney, Pearlanne T., Kechris, Katerina J., Leach, Sonia, Austin, Erin E., Czizik, Annika, Kinney, Gregory, Li, Yisha, Lutz, Sharon M., Ragland, Margaret F., Richmond, Nicole, Young, Kendra A., Cho, Michael, Castaldi, Peter J., Glass, Kimberly, Hersh, Craig, Kim, Wonji, Liu, Yang-Yu, Hersh, Craig P., Bidinger, Jacqueline, Cho, Michael H., Conrad, Douglas, DeMeo, Dawn L., El-Boueiz, Adel R., Foreman, Marilyn G., Ghosh, Auyon, Hahn, Georg, Hansel, Nadia N., Hayden, Lystra P., Hobbs, Brian, Kim, Woori, Lange, Christoph, McDonald, Merry- Lynn, McGeachie, Michael, Moll, Matthew, Morris, Melody, Patsopoulos, Nikolaos A., Qiao, Dandi, Ruczinski, Ingo, Wan, Emily S., Dy, Jennifer G., Fain, Sean B., Ginsburg, Shoshana, Hoffman, Eric A., Humphries, Stephen, Judy, Philip F., Stefanie Mason, Alex Kluiber, Oh, Andrea, Poynton, Clare, Reinhardt, Joseph M., Ross, James, San Jose Estepar, Raul, Schroeder, Joyce D., Sitek, Arkadiusz, Steiner, Robert M., van Beek, Edwin, Ginneken, Bram van, van Rikxoort, Eva, Washko, George R., Jensen, Robert, John E. Hokanson, Co-Chair, Bhatt, Surya P., Casaburi, Richard, Kim, Victor, Putcha, Nirupama, Han, MeiLan, Bon, Jessica, Diaz, Alejandro A., Regan, Elizabeth, Anzueto, Antonio, Bailey, William C., Criner, Gerard J., Dransfield, Mark T., Kinney, Greg, Sprenger, Kim, Benos, Takis, Hanania, Nicola A., Hoth, Karin F., Lambert, Allison, Lowe, Katherine, Oates, Gabriela, Parekh, Trisha, Westney, Gloria, Young, Kendra, Balasubramanian, Aparna, Boriek, Aladin, Fawzy, Ashraf, Jacobson, Francine, LaFon, David C., MacIntyre, Neil, Maselli-Caceres, Diego, McCormack, Meredith C., McDonald, Merry-Lynn, Sciurba, Frank, Soler, Xavier, Tejwani, Vickram, van Beek, Edwin JR., Wade, Raymond C., Wells, Mike, Wendt, Chris H., Yun, Jeong H., Zhang, Jingzhou, Gillenwater, Lucas, Lowe, Katherine E., Pratte, Katherine A., Ragland, Margaret, Attaway, Amy, Mason, Stefanie, Rossiter, Harry B., Saha, Punam Kumar, Wilson, Ava, Amaza, Hannatu, Baldomero, Adrienne, Mamary, A. James, O’Brien, James, Wise, Robert A., Eakin, Michelle, Fiedorowicz, Jess G., Henkle, Ben, Holm, Kristen, Iyer, Anand, Kunisaki, Ken M., McEvoy, Charlene, Mkorombindo, Takudzwa, Shinozaki, Gen, Yohannes, Abebaw, Hobbs, Brian D., Miller, Bruce E., Retson, Tara, McCloskey, Lisa, Pernicano, Perry G., Atik, Mustafa, Bertrand, Laura, Monaco, Thomas, Narendra, Dharani, Lenge de Rosen, Veronica V., Badu-Danso, Kwame, Jacobson, Francine L., Kaufman, Laura, Maguire, Cherie, Struble, Sophie, Wilson, Seth, Barr, R. Graham, Almonte, Casandra, Austin, John H.M., Gomez Blum, Maria Lorena, D’Souza, Belinda M., Florez, Emilay, Martinez, Rodney, MacIntyre, Neil, Jr., Curry, Wendy, McAdams, H. Page, Reikofski, Charlotte V., Washington, Lacey, Brown, Robert, Clare, Cheryl, Daniel, Marie, Horton, Karen, Ting “Tony” Lin, Cheng, Mirza, Tahira, Scott, Meagan, Shade, Becky, Budoff, Matt, Calmelat, Robert, Cavanaugh, Deborah, Dailing, Chris, Diaz, Leticia, Fischer, Hans, Indelicato, Renee Love, Porszasz, Janos, Soriano, April, Stringer, William, Urrutia, Miriam, Baldomero, Arianne, Bell, Brian, Deconcini, Miranda, Loes, Linda, Phelan, Jonathan, Robichaux, Camille, Sasse, Cheryl, Tashjian, Joseph H., Flenaugh, Eric L., Abson, Kema, Gebrekristos, Hirut, Johnson, Priscilla, Jordan, Jessica, Ponce, Mario, Terpenning, Silanath, Wilson, Derrick, Broadhurst, Grace, Dyer, Debra, Engel, Elena, Finigan, Jay, Hill, Andrew, Jones, Alex, Jones, Ryan, Owen, Jordan, Rosiello, Richard, Andries, Nicole, Charpentier, Mary, Kirk, Diane, Pace, David, Ciccolella, David, Cordova, Francis, Dass, Chandra, D’Alonzo, Gilbert, Davis, Valena, Desai, Parag, Fehrle, Dee, Grabianowski, Carla, Jacobs, Michael, Jameson, Laurie, Jones, Gayle M., Kelsen, Steven, Marchetti, Nathaniel, McGonagle, Francine, Satti, Aditi, Shenoy, Kartik, Sheridan, Regina, Vega-Sanchez, Maria, Wallace, Samantha, Akinseye-kolapo, Samuel, Baker, Matthew, Goggins, Arnissa, McClain, Anny, Nath, Hrudaya, Singh, Satinder P., Sonavane, Sushil K., Westfall, Elizabeth, Gil, Marissa, El Hajjaoui, Tarek, Hsiao, Albert, Martineau, Amber, Mielke, Jenna, Perez, Karl, Querido, Gabriel, Reston, Tara, Yen, Andrew, Comellas, Alejandro, Fortis, Spyridon, Galizia, Mauricio, Garcia, Eric, Keating, Janet, Laroia, Archana, Lee, Changhyun, Meyer, Amber, Mullan, Brian, Nagpal, Prashant, Ofori, Oloigbe, Suiter, Sierra, Mason, Stefanie E., Moreta-Martinez, Rafael, Labaki, Wassim W., San Jose Estepar, Ruben, Make, Barry, and Stringer, Kathleen

Published
2022
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41. Senate Bill 699 Bolsters California Non-Compete Ban

Author

Steiner, Robert I.

Subjects
Bills, Legislative -- Forecasts and trends, Non-competition agreements -- Laws, regulations and rules, Right of action -- Laws, regulations and rules, Government regulation, Market trend/market analysis, Business, international
Abstract

Background On January 1, 2024, a new law, SB 699, became effective, strengthening California's Bus. & Prof. Code Section 16600, the state's long standing non-compete ban. Under Section 16600, 'every [...]

Published
2024

45. Association between Functional Small Airway Disease and FEV1 Decline in Chronic Obstructive Pulmonary Disease.

Author

Bhatt, Surya P, Soler, Xavier, Wang, Xin, Murray, Susan, Anzueto, Antonio R, Beaty, Terri H, Boriek, Aladin M, Casaburi, Richard, Criner, Gerard J, Diaz, Alejandro A, Dransfield, Mark T, Curran-Everett, Douglas, Galbán, Craig J, Hoffman, Eric A, Hogg, James C, Kazerooni, Ella A, Kim, Victor, Kinney, Gregory L, Lagstein, Amir, Lynch, David A, Make, Barry J, Martinez, Fernando J, Ramsdell, Joe W, Reddy, Rishindra, Ross, Brian D, Rossiter, Harry B, Steiner, Robert M, Strand, Matthew J, van Beek, Edwin JR, Wan, Emily S, Washko, George R, Wells, J Michael, Wendt, Chris H, Wise, Robert A, Silverman, Edwin K, Crapo, James D, Bowler, Russell P, Han, MeiLan K, and COPDGene Investigators

Subjects
COPDGene Investigators, Respiratory System, Lung, Humans, Pulmonary Disease, Chronic Obstructive, Tomography, X-Ray Computed, Forced Expiratory Volume, Spirometry, Middle Aged, Female, Male, FEV1, lung function, parametric response mapping, Chronic Obstructive Pulmonary Disease, Clinical Research, Respiratory, Medical and Health Sciences
Abstract

RationaleThe small conducting airways are the major site of airflow obstruction in chronic obstructive pulmonary disease and may precede emphysema development.ObjectivesWe hypothesized a novel computed tomography (CT) biomarker of small airway disease predicts FEV1 decline.MethodsWe analyzed 1,508 current and former smokers from COPDGene with linear regression to assess predictors of change in FEV1 (ml/yr) over 5 years. Separate models for subjects without and with airflow obstruction were generated using baseline clinical and physiologic predictors in addition to two novel CT metrics created by parametric response mapping (PRM), a technique pairing inspiratory and expiratory CT images to define emphysema (PRM(emph)) and functional small airways disease (PRM(fSAD)), a measure of nonemphysematous air trapping.Measurements and main resultsMean (SD) rate of FEV1 decline in ml/yr for GOLD (Global Initiative for Chronic Obstructive Lung Disease) 0-4 was as follows: 41.8 (47.7), 53.8 (57.1), 45.6 (61.1), 31.6 (43.6), and 5.1 (35.8), respectively (trend test for grades 1-4; P

Published
2016

46. Clinical course of sly syndrome (mucopolysaccharidosis type VII)

Author

Montaño, Adriana M, Lock-Hock, Ngu, Steiner, Robert D, Graham, Brett H, Szlago, Marina, Greenstein, Robert, Pineda, Mercedes, Gonzalez-Meneses, Antonio, Çoker, Mahmut, Bartholomew, Dennis, Sands, Mark S, Wang, Raymond, Giugliani, Roberto, Macaya, Alfons, Pastores, Gregory, Ketko, Anastasia K, Ezgü, Fatih, Tanaka, Akemi, Arash, Laila, Beck, Michael, Falk, Rena E, Bhattacharya, Kaustuv, Franco, José, White, Klane K, Mitchell, Grant A, Cimbalistiene, Loreta, Holtz, Max, and Sly, William S

Subjects
Paediatrics, Biomedical and Clinical Sciences, Rare Diseases, Intellectual and Developmental Disabilities (IDD), Brain Disorders, Pediatric, Clinical Research, Mucopolysaccharidoses (MPS), Aetiology, 2.1 Biological and endogenous factors, Good Health and Well Being, Adolescent, Adult, Child, Child, Preschool, Female, Glucuronidase, Humans, Infant, Lysosomal Storage Diseases, Male, Mucopolysaccharidosis VII, Phenotype, Surveys and Questionnaires, Young Adult, Clinical genetics, Genetics, Metabolic disorders, Biological Sciences, Medical and Health Sciences, Genetics & Heredity, Clinical sciences
Abstract

BackgroundMucopolysaccharidosis VII (MPS VII) is an ultra-rare disease characterised by the deficiency of β-glucuronidase (GUS). Patients' phenotypes vary from severe forms with hydrops fetalis, skeletal dysplasia and mental retardation to milder forms with fewer manifestations and mild skeletal abnormalities. Accurate assessments on the frequency and clinical characteristics of the disease have been scarce. The aim of this study was to collect such data.MethodsWe have conducted a survey of physicians to document the medical history of patients with MPS VII. The survey included anonymous information on patient demographics, family history, mode of diagnosis, age of onset, signs and symptoms, severity, management, clinical features and natural progression of the disease.ResultsWe collected information on 56 patients from 11 countries. Patients with MPS VII were classified based on their phenotype into three different groups: (1) neonatal non-immune hydrops fetalis (NIHF) (n=10), (2) Infantile or adolescent form with history of hydrops fetalis (n=13) and (3) Infantile or adolescent form without known hydrops fetalis (n=33). Thirteen patients with MPS VII who had the infantile form with history of hydrops fetalis and survived childhood, had a wide range of clinical manifestations from mild to severe. Five patients underwent bone marrow transplantation and one patient underwent enzyme replacement therapy with recombinant human GUS.ConclusionsMPS VII is a pan-ethnic inherited lysosomal storage disease with considerable phenotypical heterogeneity. Most patients have short stature, skeletal dysplasia, hepatosplenomegaly, hernias, cardiac involvement, pulmonary insufficiency and cognitive impairment. In these respects it resembles MPS I and MPS II. In MPS VII, however, one unique and distinguishing clinical feature is the unexpectedly high proportion of patients (41%) that had a history of NIHF. Presence of NIHF does not, by itself, predict the eventual severity of the clinical course, if the patient survives infancy.

Published
2016

49. Variant classification for Pompe disease; ACMG/AMP specifications from the ClinGen lysosomal diseases variant curation expert panel

Author

Goldstein, Jennifer L., primary, McGlaughon, Jennifer, additional, Kanavy, Dona, additional, Goomber, Shelly, additional, Pan, Yinghong, additional, Deml, Brett, additional, Donti, Taraka, additional, Kearns, Liz, additional, Seifert, Bryce A., additional, Schachter, Miriam, additional, Son, Rachel G., additional, Thaxton, Courtney, additional, Udani, Rupa, additional, Bali, Deeksha, additional, Baudet, Heather, additional, Caggana, Michele, additional, Hung, Christina, additional, Kyriakopoulou, Lianna, additional, Rosenblum, Lynne, additional, Steiner, Robert, additional, Pinto e Vairo, Filippo, additional, Wang, Yang, additional, Watson, Michael, additional, Fernandez, Raquel, additional, Weaver, Meredith, additional, Clarke, Lorne, additional, and Rehder, Catherine, additional

Published
2023
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