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Biallelic variants in ribonuclease inhibitor (RNH1), an inflammasome modulator, are associated with a distinctive subtype of acute, necrotizing encephalopathy.
Shashi V, Schoch K, Ganetzky R, Kranz PG, Sondheimer N, Markert ML, Cope H, Sadeghpour A, Roehrs P, Arbogast T, Muraresku C; Undiagnosed Diseases Network; Tyndall AV, Esser MJ, Woodward KE, Ping-Yee Au B, Parboosingh JS, Lamont RE, Bernier FP, Wright NAM, Benseler SM, Parsons SJ, El-Dairi M, Smith EC, Valdez P, Tennison M, Innes AM, Davis EE. Shashi V, et al. Genet Med. 2023 Sep;25(9):100897. doi: 10.1016/j.gim.2023.100897. Epub 2023 May 13. Genet Med. 2023. PMID: 37191094 Free PMC article.
RESULTS: All 8 healthy children became acutely encephalopathic during a viral/febrile illness and received a variety of immune modulation treatments. Long-term outcomes varied from death to severe neurologic deficits to normal outcomes. ...
RESULTS: All 8 healthy children became acutely encephalopathic during a viral/febrile illness and received a variety of immune modulation tr …
Quantitative CT Evaluation of Emphysema Progression over 10 Years in the COPDGene Study.
Baraghoshi D, Strand M, Humphries SM, San José Estépar R, Vegas Sanchez-Ferrero G, Charbonnier JP, Latisenko R, Silverman EK, Crapo JD, Lynch DA. Baraghoshi D, et al. Among authors: silverman ek. Radiology. 2023 May;307(4):e222786. doi: 10.1148/radiol.222786. Epub 2023 Apr 11. Radiology. 2023. PMID: 37039685 Free PMC article.
Background Long-term studies of chronic obstructive pulmonary disease (COPD) can evaluate emphysema progression. ...
Background Long-term studies of chronic obstructive pulmonary disease (COPD) can evaluate emphysema progression. ...
Interaction of Cigarette Smoking and Polygenic Risk Score on Reduced Lung Function.
Kim W, Moll M, Qiao D, Hobbs BD, Shrine N, Sakornsakolpat P, Tobin MD, Dudbridge F, Wain LV, Ladd-Acosta C, Chatterjee N, Silverman EK, Cho MH, Beaty TH. Kim W, et al. Among authors: silverman ek. JAMA Netw Open. 2021 Dec 1;4(12):e2139525. doi: 10.1001/jamanetworkopen.2021.39525. JAMA Netw Open. 2021. PMID: 34913977 Free PMC article.
The PRS and pack-years were significantly associated with lower FEV1/FVC (PRS: beta, -0.03; 95% CI, -0.031 to -0.03; pack-years: beta, -0.0064; 95% CI, -0.0064 to -0.0063) and the interaction term (beta, -0.0028; 95% CI, -0.0029 to -0.0026). A stepwise increment in estimat …
The PRS and pack-years were significantly associated with lower FEV1/FVC (PRS: beta, -0.03; 95% CI, -0.031 to -0.03; pack-years: beta, -0.00 …
Secondary polycythemia in chronic obstructive pulmonary disease: prevalence and risk factors.
Zhang J, DeMeo DL, Silverman EK, Make BJ, Wade RC, Wells JM, Cho MH, Hobbs BD. Zhang J, et al. Among authors: silverman ek. BMC Pulm Med. 2021 Jul 14;21(1):235. doi: 10.1186/s12890-021-01585-5. BMC Pulm Med. 2021. PMID: 34261472 Free PMC article.
We used logistic regression to evaluate the association of polycythemia with age, sex, race, altitude, current smoking status, spirometry, diffusing capacity for carbon monoxide (DLCO), quantitative chest CT measurements (including emphysema, airway wall thickness, and pulmonary …
We used logistic regression to evaluate the association of polycythemia with age, sex, race, altitude, current smoking status, spirometry, d …
Respiratory exacerbations are associated with muscle loss in current and former smokers.
Mason SE, Moreta-Martinez R, Labaki WW, Strand M, Baraghoshi D, Regan EA, Bon J, San Jose Estepar R, Casaburi R, McDonald MN, Rossiter H, Make BJ, Dransfield MT, Han MK, Young KA, Kinney G, Hokanson JE, San Jose Estepar R, Washko GR; COPDGene Investigators; COPDGene® Investigators. Mason SE, et al. Thorax. 2021 Jun;76(6):554-560. doi: 10.1136/thoraxjnl-2020-215999. Epub 2021 Feb 11. Thorax. 2021. PMID: 33574123 Free PMC article.
Acute respiratory exacerbations are associated with reduction of muscle function, but there is a paucity of data on their long-term effect. This study explores the relationship between acute respiratory exacerbations and long-term muscle loss using serial measuremen …
Acute respiratory exacerbations are associated with reduction of muscle function, but there is a paucity of data on their long-term e …
Deep Learning Enables Automatic Classification of Emphysema Pattern at CT.
Humphries SM, Notary AM, Centeno JP, Strand MJ, Crapo JD, Silverman EK, Lynch DA; Genetic Epidemiology of COPD (COPDGene) Investigators. Humphries SM, et al. Among authors: silverman ek. Radiology. 2020 Feb;294(2):434-444. doi: 10.1148/radiol.2019191022. Epub 2019 Dec 3. Radiology. 2020. PMID: 31793851 Free PMC article.
A deep learning algorithm using convolutional neural network and long short-term memory architectures was trained to classify pattern of emphysema according to Fleischner criteria. ...
A deep learning algorithm using convolutional neural network and long short-term memory architectures was trained to classify pattern …
Genomics and response to long-term oxygen therapy in chronic obstructive pulmonary disease.
Seo M, Qiu W, Bailey W, Criner GJ, Dransfield MT, Fuhlbrigge AL, Reilly JJ, Scholand MB, Castaldi P, Chase R, Parker M, Saferali A, Yun JH, Crapo JD, Cho MH, Beaty TH, Silverman EK, Hersh CP. Seo M, et al. Among authors: silverman ek. J Mol Med (Berl). 2018 Dec;96(12):1375-1385. doi: 10.1007/s00109-018-1708-8. Epub 2018 Oct 23. J Mol Med (Berl). 2018. PMID: 30353303 Free PMC article. Clinical Trial.
However, the Long-term Oxygen Treatment Trial (LOTT), a large randomized trial, found no benefit of oxygen therapy in COPD patients with moderate hypoxemia. ...Genes differentially expressed by long-term oxygen were enriched in mitochondrial functions. This suggests …
However, the Long-term Oxygen Treatment Trial (LOTT), a large randomized trial, found no benefit of oxygen therapy in COPD patients w …
Systemic Markers of Adaptive and Innate Immunity Are Associated with Chronic Obstructive Pulmonary Disease Severity and Spirometric Disease Progression.
Halper-Stromberg E, Yun JH, Parker MM, Singer RT, Gaggar A, Silverman EK, Leach S, Bowler RP, Castaldi PJ. Halper-Stromberg E, et al. Among authors: silverman ek. Am J Respir Cell Mol Biol. 2018 Apr;58(4):500-509. doi: 10.1165/rcmb.2017-0373OC. Am J Respir Cell Mol Biol. 2018. PMID: 29206476 Free PMC article.
Cell counts and proportions contribute independent information to models predicting lung function, suggesting a critical role for immune response in long-term COPD outcomes. Cell type deconvolution is a promising method for immunophenotyping in large cohorts....
Cell counts and proportions contribute independent information to models predicting lung function, suggesting a critical role for immune res …
Association of lung function genes with chronic obstructive pulmonary disease.
Kim WJ, Lim MN, Hong Y, Silverman EK, Lee JH, Jung BH, Ra SW, Choi HS, Jung YJ, Park YB, Park MJ, Lee SW, Lee JS, Oh YM, Lee SD. Kim WJ, et al. Among authors: silverman ek. Lung. 2014 Aug;192(4):473-80. doi: 10.1007/s00408-014-9579-4. Epub 2014 Apr 16. Lung. 2014. PMID: 24737086
Genetic association tests were performed, adjusting for age, sex, and smoking intensity, using models including a SNP-by-smoking interaction term. RESULTS: PID1 and FAM13A were significantly associated with COPD susceptibility. ...
Genetic association tests were performed, adjusting for age, sex, and smoking intensity, using models including a SNP-by-smoking interaction …
15 results