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Inherited lung disorders

MedGen UID:
472867
•Concept ID:
CN163264
•
Disease or Syndrome

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Professional guidelines

PubMed

Diagnosis and Treatment of Aplastic Anemia.
Peslak SA, Olson T, Babushok DV
Curr Treat Options Oncol 2017 Nov 16;18(12):70. doi: 10.1007/s11864-017-0511-z. PMID: 29143887Free PMC Article
Lung cancer: Biology and treatment options.
Lemjabbar-Alaoui H, Hassan OU, Yang YW, Buchanan P
Biochim Biophys Acta 2015 Dec;1856(2):189-210. Epub 2015 Aug 19 doi: 10.1016/j.bbcan.2015.08.002. PMID: 26297204Free PMC Article
Pathogenesis, treatment, and prevention of pneumococcal pneumonia.
van der Poll T, Opal SM
Lancet 2009 Oct 31;374(9700):1543-56. doi: 10.1016/S0140-6736(09)61114-4. PMID: 19880020

Recent clinical studies

Etiology

Invasive Pulmonary Aspergillosis.
Ledoux MP, Guffroy B, Nivoix Y, Simand C, Herbrecht R
Semin Respir Crit Care Med 2020 Feb;41(1):80-98. Epub 2020 Jan 30 doi: 10.1055/s-0039-3401990. PMID: 32000286
Pregnancy and Pulmonary Embolism.
Dado CD, Levinson AT, Bourjeily G
Clin Chest Med 2018 Sep;39(3):525-537. doi: 10.1016/j.ccm.2018.04.007. PMID: 30122177Free PMC Article
Sickle cell disease.
Kato GJ, Piel FB, Reid CD, Gaston MH, Ohene-Frempong K, Krishnamurti L, Smith WR, Panepinto JA, Weatherall DJ, Costa FF, Vichinsky EP
Nat Rev Dis Primers 2018 Mar 15;4:18010. doi: 10.1038/nrdp.2018.10. PMID: 29542687
Epidemiology, Pathophysiology, Stratification, and Natural History of Pulmonary Embolism.
Giordano NJ, Jansson PS, Young MN, Hagan KA, Kabrhel C
Tech Vasc Interv Radiol 2017 Sep;20(3):135-140. Epub 2017 Jul 5 doi: 10.1053/j.tvir.2017.07.002. PMID: 29029707
Risk factors for venous thromboembolism.
Anderson FA Jr, Spencer FA
Circulation 2003 Jun 17;107(23 Suppl 1):I9-16. doi: 10.1161/01.CIR.0000078469.07362.E6. PMID: 12814980

Diagnosis

Invasive Pulmonary Aspergillosis.
Ledoux MP, Guffroy B, Nivoix Y, Simand C, Herbrecht R
Semin Respir Crit Care Med 2020 Feb;41(1):80-98. Epub 2020 Jan 30 doi: 10.1055/s-0039-3401990. PMID: 32000286
Pregnancy and Pulmonary Embolism.
Dado CD, Levinson AT, Bourjeily G
Clin Chest Med 2018 Sep;39(3):525-537. doi: 10.1016/j.ccm.2018.04.007. PMID: 30122177Free PMC Article
Sickle cell disease.
Kato GJ, Piel FB, Reid CD, Gaston MH, Ohene-Frempong K, Krishnamurti L, Smith WR, Panepinto JA, Weatherall DJ, Costa FF, Vichinsky EP
Nat Rev Dis Primers 2018 Mar 15;4:18010. doi: 10.1038/nrdp.2018.10. PMID: 29542687
Epidemiology, Pathophysiology, Stratification, and Natural History of Pulmonary Embolism.
Giordano NJ, Jansson PS, Young MN, Hagan KA, Kabrhel C
Tech Vasc Interv Radiol 2017 Sep;20(3):135-140. Epub 2017 Jul 5 doi: 10.1053/j.tvir.2017.07.002. PMID: 29029707
Cystic Fibrosis Revisited - a Review Study.
Klimova B, Kuca K, Novotny M, Maresova P
Med Chem 2017;13(2):102-109. doi: 10.2174/1573406412666160608113235. PMID: 27292156

Therapy

Cystic Fibrosis Modulator Therapies.
Jia S, Taylor-Cousar JL
Annu Rev Med 2023 Jan 27;74:413-426. Epub 2022 Aug 16 doi: 10.1146/annurev-med-042921-021447. PMID: 35973718
COVID-19 mRNA vaccines: Platforms and current developments.
Szabó GT, Mahiny AJ, Vlatkovic I
Mol Ther 2022 May 4;30(5):1850-1868. Epub 2022 Feb 19 doi: 10.1016/j.ymthe.2022.02.016. PMID: 35189345Free PMC Article
Invasive Pulmonary Aspergillosis.
Ledoux MP, Guffroy B, Nivoix Y, Simand C, Herbrecht R
Semin Respir Crit Care Med 2020 Feb;41(1):80-98. Epub 2020 Jan 30 doi: 10.1055/s-0039-3401990. PMID: 32000286
Gene therapy comes of age.
Dunbar CE, High KA, Joung JK, Kohn DB, Ozawa K, Sadelain M
Science 2018 Jan 12;359(6372) doi: 10.1126/science.aan4672. PMID: 29326244
α1-Antitrypsin deficiency.
Greene CM, Marciniak SJ, Teckman J, Ferrarotti I, Brantly ML, Lomas DA, Stoller JK, McElvaney NG
Nat Rev Dis Primers 2016 Jul 28;2:16051. doi: 10.1038/nrdp.2016.51. PMID: 27465791

Prognosis

Cystic Fibrosis Modulator Therapies.
Jia S, Taylor-Cousar JL
Annu Rev Med 2023 Jan 27;74:413-426. Epub 2022 Aug 16 doi: 10.1146/annurev-med-042921-021447. PMID: 35973718
Epidemiology, Pathophysiology, Stratification, and Natural History of Pulmonary Embolism.
Giordano NJ, Jansson PS, Young MN, Hagan KA, Kabrhel C
Tech Vasc Interv Radiol 2017 Sep;20(3):135-140. Epub 2017 Jul 5 doi: 10.1053/j.tvir.2017.07.002. PMID: 29029707
The epidemiology of venous thromboembolism.
Heit JA, Spencer FA, White RH
J Thromb Thrombolysis 2016 Jan;41(1):3-14. doi: 10.1007/s11239-015-1311-6. PMID: 26780736Free PMC Article
Lung cancer: Biology and treatment options.
Lemjabbar-Alaoui H, Hassan OU, Yang YW, Buchanan P
Biochim Biophys Acta 2015 Dec;1856(2):189-210. Epub 2015 Aug 19 doi: 10.1016/j.bbcan.2015.08.002. PMID: 26297204Free PMC Article
Epidemiology of venous thromboembolism.
Heit JA
Nat Rev Cardiol 2015 Aug;12(8):464-74. Epub 2015 Jun 16 doi: 10.1038/nrcardio.2015.83. PMID: 26076949Free PMC Article

Clinical prediction guides

The 'cytokine storm': molecular mechanisms and therapeutic prospects.
Karki R, Kanneganti TD
Trends Immunol 2021 Aug;42(8):681-705. Epub 2021 Jul 1 doi: 10.1016/j.it.2021.06.001. PMID: 34217595Free PMC Article
Identification of risk loci and a polygenic risk score for lung cancer: a large-scale prospective cohort study in Chinese populations.
Dai J, Lv J, Zhu M, Wang Y, Qin N, Ma H, He YQ, Zhang R, Tan W, Fan J, Wang T, Zheng H, Sun Q, Wang L, Huang M, Ge Z, Yu C, Guo Y, Wang TM, Wang J, Xu L, Wu W, Chen L, Bian Z, Walters R, Millwood IY, Li XZ, Wang X, Hung RJ, Christiani DC, Chen H, Wang M, Wang C, Jiang Y, Chen K, Chen Z, Jin G, Wu T, Lin D, Hu Z, Amos CI, Wu C, Wei Q, Jia WH, Li L, Shen H
Lancet Respir Med 2019 Oct;7(10):881-891. Epub 2019 Jul 17 doi: 10.1016/S2213-2600(19)30144-4. PMID: 31326317Free PMC Article
Epidemiology, Pathophysiology, Stratification, and Natural History of Pulmonary Embolism.
Giordano NJ, Jansson PS, Young MN, Hagan KA, Kabrhel C
Tech Vasc Interv Radiol 2017 Sep;20(3):135-140. Epub 2017 Jul 5 doi: 10.1053/j.tvir.2017.07.002. PMID: 29029707
The epidemiology of venous thromboembolism.
Heit JA, Spencer FA, White RH
J Thromb Thrombolysis 2016 Jan;41(1):3-14. doi: 10.1007/s11239-015-1311-6. PMID: 26780736Free PMC Article
Epidemiology of venous thromboembolism.
Heit JA
Nat Rev Cardiol 2015 Aug;12(8):464-74. Epub 2015 Jun 16 doi: 10.1038/nrcardio.2015.83. PMID: 26076949Free PMC Article

Recent systematic reviews

Conventional chest physiotherapy compared to other airway clearance techniques for cystic fibrosis.
Main E, Rand S
Cochrane Database Syst Rev 2023 May 5;5(5):CD002011. doi: 10.1002/14651858.CD002011.pub3. PMID: 37144842Free PMC Article
Hydroxyurea (hydroxycarbamide) for sickle cell disease.
Rankine-Mullings AE, Nevitt SJ
Cochrane Database Syst Rev 2022 Sep 1;9(9):CD002202. doi: 10.1002/14651858.CD002202.pub3. PMID: 36047926Free PMC Article
An International, Multicentered, Evidence-Based Reappraisal of Genes Reported to Cause Congenital Long QT Syndrome.
Adler A, Novelli V, Amin AS, Abiusi E, Care M, Nannenberg EA, Feilotter H, Amenta S, Mazza D, Bikker H, Sturm AC, Garcia J, Ackerman MJ, Hershberger RE, Perez MV, Zareba W, Ware JS, Wilde AAM, Gollob MH
Circulation 2020 Feb 11;141(6):418-428. Epub 2020 Jan 27 doi: 10.1161/CIRCULATIONAHA.119.043132. PMID: 31983240Free PMC Article
Treatment for chronic methicillin-sensitive Staphylococcus aureus pulmonary infection in people with cystic fibrosis.
Ahmed MI, Mukherjee S
Cochrane Database Syst Rev 2018 Jul 27;7(7):CD011581. doi: 10.1002/14651858.CD011581.pub3. PMID: 30052271Free PMC Article
Thromboembolism.
McManus RJ, Fitzmaurice DA, Murray E, Taylor C
BMJ Clin Evid 2011 Mar 8;2011 PMID: 21385473Free PMC Article

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