{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,29]],"date-time":"2025-12-29T11:35:54Z","timestamp":1767008154185,"version":"3.37.3"},"reference-count":21,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2024,12,18]],"date-time":"2024-12-18T00:00:00Z","timestamp":1734480000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0"},{"start":{"date-parts":[[2024,12,18]],"date-time":"2024-12-18T00:00:00Z","timestamp":1734480000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0"}],"funder":[{"DOI":"10.13039\/501100016387","name":"Grifols","doi-asserted-by":"publisher","award":["NA"],"award-info":[{"award-number":["NA"]}],"id":[{"id":"10.13039\/501100016387","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["BMC Pulm Med"],"DOI":"10.1186\/s12890-024-03421-y","type":"journal-article","created":{"date-parts":[[2024,12,18]],"date-time":"2024-12-18T18:09:49Z","timestamp":1734545389000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Clinical implications of the SERPINA1 variant, MPalermo, and alpha-1 antitrypsin deficiency in T\u00fcrkiye"],"prefix":"10.1186","volume":"24","author":[{"given":"Dilek","family":"Karado\u011fan","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bettina","family":"Dreger","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lourdes","family":"Osaba","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Enes","family":"Ahmeto\u011flu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Song\u00fcl","family":"\u00d6zyurt","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bilge","family":"Y\u0131lmaz Kara","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nur","family":"H\u00fcrsoy","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tahsin G\u00f6khan","family":"Telatar","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"\u00dcnal","family":"\u015eahin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2024,12,18]]},"reference":[{"key":"3421_CR1","doi-asserted-by":"publisher","first-page":"173","DOI":"10.2147\/TACG.S257511","volume":"14","author":"S Seixas","year":"2021","unstructured":"Seixas S, Marques PI. Known mutations at the cause of slpha-1 antitrypsin deficiency an updated overview of SERPINA1 variation spectrum. Appl Clin Genet. 2021;14:173\u201394.","journal-title":"Appl Clin Genet"},{"issue":"1","key":"3421_CR2","first-page":"7","volume":"10","author":"GS Wiesemann","year":"2023","unstructured":"Wiesemann GS, Oshins RA, Flagg TO, Brantly ML. Novel SERPINA1 alleles identified through a large alpha-1 antitrypsin deficiency screening program and review of known variants. Chronic Obstr Pulm Dis. 2023;10(1):7\u201321.","journal-title":"Chronic Obstr Pulm Dis"},{"issue":"6","key":"3421_CR3","first-page":"1113","volume":"55","author":"JP Faber","year":"1994","unstructured":"Faber JP, Poller W, Weidinger S, Kirchgesser M, Schwaab, Bidlingmaier F, et al. Identification and DNA sequence analysis of 15 new alpha 1-antitrypsin variants, including two PI*Q0 alleles and one deficient PI*M allele. Am J Hum Genet. 1994;55(6):1113\u201321.","journal-title":"Am J Hum Genet"},{"key":"3421_CR4","doi-asserted-by":"publisher","first-page":"2785","DOI":"10.2147\/COPD.S425835","volume":"18","author":"S Tural Onur","year":"2023","unstructured":"Tural Onur S, Natoli A, Dreger B, Arinc S, Sarioglu N, Cortuk M, et al. An alpha-1 antitrypsin deficiency screening study in patients with chronic obstructive pulmonary disease, bronchiectasis, or asthma in Turkey. Int J Chron Obstruct Pulmon Dis. 2023;18:2785\u201394.","journal-title":"Int J Chron Obstruct Pulmon Dis"},{"key":"3421_CR5","unstructured":"2024 GOLD Global Initiative for Chronic Obstructive Lung Disease, Report. Global strategy for prevention, diagnosis and management of COPD. (Global Initiative for Chronic Obstructive Lung Disease, 2024). https:\/\/goldcopd.org\/2024-gold-report\/ Accessed 01 August 2024."},{"issue":"1","key":"3421_CR6","doi-asserted-by":"publisher","first-page":"91","DOI":"10.1186\/s12890-024-02900-6","volume":"24","author":"D Karadogan","year":"2024","unstructured":"Karadogan D, Sahin U, Dreger B, Grandoso L, Osaba L. Case report of a novel alpha1-antitrypsin null variant in Turkiye: Q0(RIZE). BMC Pulm Med. 2024;24(1):91.","journal-title":"BMC Pulm Med"},{"issue":"3","key":"3421_CR7","doi-asserted-by":"publisher","first-page":"648","DOI":"10.1183\/09031936.00102509","volume":"34","author":"PW Jones","year":"2009","unstructured":"Jones PW, Harding G, Berry P, Wiklund I, Chen WH, Kline Leidy N. Development and first validation of the COPD Assessment Test. Eur Respir J. 2009;34(3):648\u201354.","journal-title":"Eur Respir J"},{"issue":"3","key":"3421_CR8","doi-asserted-by":"publisher","first-page":"208","DOI":"10.4104\/pcrj.2009.00053","volume":"18","author":"P Jones","year":"2009","unstructured":"Jones P, Harding G, Wiklund I, Berry P, Leidy N. Improving the process and outcome of care in COPD: development of a standardised assessment tool. Prim Care Respir J. 2009;18(3):208\u201315.","journal-title":"Prim Care Respir J"},{"issue":"3","key":"3421_CR9","doi-asserted-by":"publisher","first-page":"580","DOI":"10.1378\/chest.93.3.580","volume":"93","author":"DA Mahler","year":"1988","unstructured":"Mahler DA, Wells CK. Evaluation of clinical methods for rating dyspnea. Chest. 1988;93(3):580\u20136.","journal-title":"Chest"},{"issue":"4","key":"3421_CR10","doi-asserted-by":"publisher","first-page":"1185","DOI":"10.1164\/ajrccm.158.4.9802091","volume":"158","author":"T Hajiro","year":"1998","unstructured":"Hajiro T, Nishimura K, Tsukino M, Ikeda A, Koyama H, Izumi T. Analysis of clinical methods used to evaluate dyspnea in patients with chronic obstructive pulmonary disease. Am J Respir Crit Care Med. 1998;158(4):1185\u201389.","journal-title":"Am J Respir Crit Care Med"},{"issue":"1","key":"3421_CR11","first-page":"26","volume":"7","author":"RH Stanford","year":"2020","unstructured":"Stanford RH, Tabberer M, Kosinski M, Johnson PT, White J, Carlyle M, et al. Assessment of the COPD Assessment Test within U.S. Primary Care. Chronic Obstr Pulm Dis. 2020;7(1):26\u201337.","journal-title":"Chronic Obstr Pulm Dis"},{"key":"3421_CR12","unstructured":"Mahler DA, mMRC, (Modified Medical Research Council) Dyspnea Scale. Availabler at: https:\/\/www.mdcalc.com\/calc\/4006\/mmrc-modified-medical-research-council-dyspnea-scale#when-to-use. Accessed 01 August 2024."},{"issue":"7","key":"3421_CR13","doi-asserted-by":"publisher","first-page":"818","DOI":"10.1164\/rccm.168.7.818","volume":"168","author":"American Thoracic Society, European Respiratory Society","year":"2003","unstructured":"American Thoracic Society, European Respiratory Society. American Thoracic Society\/European Respiratory Society statement: standards for the diagnosis and management of individuals with alpha-1 antitrypsin deficiency. Am J Respir Crit Care Med. 2003;168(7):818\u2013900.","journal-title":"Am J Respir Crit Care Med"},{"issue":"23","key":"3421_CR14","doi-asserted-by":"publisher","first-page":"13938","DOI":"10.1016\/S0021-9258(18)80090-4","volume":"264","author":"DT Curiel","year":"1989","unstructured":"Curiel DT, Holmes MD, Okayama H, Brantly ML, Vogelmeier C, Travis WD, et al. Molecular basis of the liver and lung disease associated with the \u03b11-antitrypsin deficiency allele Mmalton. J Biol Chem. 1989;264(23):13938\u201345.","journal-title":"J Biol Chem"},{"issue":"3","key":"3421_CR15","first-page":"602","volume":"46","author":"E Matsunaga","year":"1990","unstructured":"Matsunaga E, Shiokawa S, Nakamura H, Maruyama T, Tsuda K, Fukumaki Y. Molecular analysis of the gene of the alpha 1-antitrypsin deficiency variant, Mnichinan. Am J Hum Genet. 1990;46(3):602\u201312.","journal-title":"Am J Hum Genet"},{"issue":"15","key":"3421_CR16","doi-asserted-by":"publisher","first-page":"1443","DOI":"10.1056\/NEJMra1910234","volume":"382","author":"P Strnad","year":"2020","unstructured":"Strnad P, McElvaney NG, Lomas DA. Alpha1-antitrypsin deficiency. N Engl J Med. 2020;382(15):1443\u201355.","journal-title":"N Engl J Med"},{"issue":"1","key":"3421_CR17","doi-asserted-by":"publisher","first-page":"82","DOI":"10.1186\/s13023-024-03069-1","volume":"19","author":"I Ferrarotti","year":"2024","unstructured":"Ferrarotti I, Wencker M, Chorostowska-Wynimko J. Rare variants in alpha 1 antitrypsin deficiency: a systematic literature review. Orphanet J Rare Dis. 2024;19(1):82.","journal-title":"Orphanet J Rare Dis"},{"issue":"Suppl 1","key":"3421_CR18","doi-asserted-by":"publisher","first-page":"2","DOI":"10.3109\/15412555.2015.1021913","volume":"12","author":"ME O\u2019Brien","year":"2015","unstructured":"O\u2019Brien ME, Pennycooke K, Carroll TP, Shum J, Fee LT, O\u2019Connor C, et al. The impact of smoke exposure on the clinical phenotype of alpha-1 antitrypsin deficiency in Ireland: exploiting a national registry to understand a rare disease. COPD. 2015;12(Suppl 1):2\u20139.","journal-title":"COPD"},{"issue":"1","key":"3421_CR19","doi-asserted-by":"publisher","first-page":"22","DOI":"10.1207\/s15324796abm3301_3","volume":"33","author":"MJ Carpenter","year":"2007","unstructured":"Carpenter MJ, Strange C, Jones Y, Dickson MR, Carter C, Moseley MA, et al. Does genetic testing result in behavioral health change? Changes in smoking behavior following testing for alpha-1 antitrypsin deficiency. Ann Behav Med. 2007;33(1):22\u20138.","journal-title":"Ann Behav Med"},{"key":"3421_CR20","doi-asserted-by":"publisher","first-page":"48","DOI":"10.1016\/j.rmed.2018.08.016","volume":"143","author":"KE Holm","year":"2018","unstructured":"Holm KE, Mannino DM, Choate R, Sandhaus RA. Genotype is associated with smoking and other key health behaviors among individuals with alpha-1 antitrypsin deficiency-associated lung disease. Respir Med. 2018;143:48\u201355.","journal-title":"Respir Med"},{"issue":"1","key":"3421_CR21","doi-asserted-by":"publisher","first-page":"76","DOI":"10.1080\/15412555.2020.1864725","volume":"18","author":"AN Franciosi","year":"2021","unstructured":"Franciosi AN, Alkhunaizi MA, Woodsmith A, Aldaihani L, Alkandari H, Lee SH, et al. Alpha-1 antitrypsin deficiency and tobacco smoking: exploring risk factors and smoking cessation in a registry population. COPD. 2021;18(1):76\u201382.","journal-title":"COPD"}],"container-title":["BMC Pulmonary Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s12890-024-03421-y.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1186\/s12890-024-03421-y\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s12890-024-03421-y.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,12,18]],"date-time":"2024-12-18T19:03:56Z","timestamp":1734548636000},"score":1,"resource":{"primary":{"URL":"https:\/\/bmcpulmmed.biomedcentral.com\/articles\/10.1186\/s12890-024-03421-y"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,12,18]]},"references-count":21,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2024,12]]}},"alternative-id":["3421"],"URL":"https:\/\/doi.org\/10.1186\/s12890-024-03421-y","relation":{},"ISSN":["1471-2466"],"issn-type":[{"type":"electronic","value":"1471-2466"}],"subject":[],"published":{"date-parts":[[2024,12,18]]},"assertion":[{"value":"24 October 2024","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"26 November 2024","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"18 December 2024","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"Written informed consent was obtained from the patients described herein for their anonymized information to be published in this article. Ethical approval was provided from Recep Tayyip Erdo\u011fan University Ethical Committee, date: 28.09.2023 and number: 2023\/224. This study was completed in accordance with the Helsinki Declaration as revised in 2013.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"Written informed consent was obtained from the patients described herein for their anonymized information to be published in this article.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"DK, EA, SO, BYK, NH, TGT and \u00dcS have no competing interests related to this work. BD was an employee of Grifols Deutschland at the time this study was conducted, and LO is an employee of Progenika.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"622"}}