{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,4,24]],"date-time":"2025-04-24T04:32:56Z","timestamp":1745469176754,"version":"3.40.4"},"reference-count":21,"publisher":"S. Karger AG","issue":"5","license":[{"start":{"date-parts":[[2016,1,1]],"date-time":"2016-01-01T00:00:00Z","timestamp":1451606400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2016,1,1]],"date-time":"2016-01-01T00:00:00Z","timestamp":1451606400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Visc Med"],"published-print":{"date-parts":[[2016]]},"abstract":"<jats:p>&lt;b&gt;&lt;i&gt;Background:&lt;\/i&gt;&lt;\/b&gt; Despite an increasing understanding of the pathophysiology of achalasia, the etiology of this esophageal motility disorder remains largely unknown. However, the occurrence of familial achalasia, its association with well-defined genetic syndromes, the candidate gene approach, and recent presentation of the first systematic genome-wide association study on achalasia suggest the involvement of genetic factors. &lt;b&gt;&lt;i&gt;Methods:&lt;\/i&gt;&lt;\/b&gt; In this study we analyzed the frequency with which symptoms associated with esophageal function (swallowing difficulties, regurgitations, retrosternal cramps\/pain, heartburn) occur in first-degree relatives of patients with achalasia to determine if screening is useful and justified against the background of early diagnosis in a genetically predisposed population. The survey of data was carried out in 759 relatives of the 359 achalasia patients included in this study by means of structured interviews. &lt;b&gt;&lt;i&gt;Results:&lt;\/i&gt;&lt;\/b&gt; Swallowing difficulties as the principal symptom of achalasia were found to occur at least occasionally in 11.2% of first-degree relatives. In comparison with the prevalence of dysphagia in the general population of 7-10% up to 22%, as described in the literature, the frequency of swallowing difficulties does not seem to be increased in our population of relatives. &lt;b&gt;&lt;i&gt;Conclusion:&lt;\/i&gt;&lt;\/b&gt; Screening measures do not appear to be justified in spite of the potential genetic background of achalasia.<\/jats:p>","DOI":"10.1159\/000445790","type":"journal-article","created":{"date-parts":[[2016,8,16]],"date-time":"2016-08-16T21:02:00Z","timestamp":1471381320000},"page":"369-374","source":"Crossref","is-referenced-by-count":0,"title":["Esophagus-Related Symptoms in First-Degree Relatives of Patients with Achalasia: Is Screening Necessary?"],"prefix":"10.1159","volume":"32","author":[{"given":"Henning R.","family":"Gockel","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Moritz","family":"Lesse","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Johannes","family":"Schumacher","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michaela","family":"M\u00fcller","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ines","family":"Gockel","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2016,8,17]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1053\/j.gastro.2010.06.024"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1572-0241.2005.41775.x"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1016\/j.gassur.2006.07.006"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1016\/j.jamcollsurg.2015.03.057"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1111\/dote.12387"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-010-0874-8"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1007\/BF01536254"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/5.12.2061"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1016\/j.humimm.2007.07.005"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2982.2009.01319.x"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1038\/ng.3029"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2982.2009.01284.x"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1136\/thx.40.5.391"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1136\/gut.33.8.1011"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1007\/BF02493524"},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2036.2008.03664.x"},{"key":"ref17","doi-asserted-by":"publisher","DOI":"10.1007\/s00455-004-0013-6"},{"key":"ref18","doi-asserted-by":"publisher","DOI":"10.1055\/s-2006-927402"},{"key":"ref19","doi-asserted-by":"publisher","DOI":"10.1007\/BF02408233"},{"key":"ref20","doi-asserted-by":"publisher","DOI":"10.1007\/s00455-007-9120-5"},{"key":"ref21","doi-asserted-by":"publisher","DOI":"10.1016\/S0016-5085(97)70025-8"}],"container-title":["Visceral Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/445790","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/445790","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/445790","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T18:01:40Z","timestamp":1745431300000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000445790"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016]]},"references-count":21,"journal-issue":{"issue":"5","published-online":{"date-parts":[[2016,10,24]]}},"URL":"https:\/\/doi.org\/10.1159\/000445790","archive":["Portico"],"relation":{},"ISSN":["2297-4725","2297-475X"],"issn-type":[{"type":"print","value":"2297-4725"},{"type":"electronic","value":"2297-475X"}],"subject":[],"published":{"date-parts":[[2016]]}}}