Search results for " esophageal achalasia"

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The HLA-DQβ1 insertion is a strong achalasia risk factor and displays a geospatial north-south gradient among Europeans.

2016

Idiopathic achalasia is a severe motility disorder of the esophagus and is characterized by a failure of the lower esophageal sphincter to relax due to a loss of neurons in the myenteric plexus. Most recently, we identified an eight-amino-acid insertion in the cytoplasmic tail of HLA-DQβ1 as strong achalasia risk factor in a sample set from Central Europe, Italy and Spain. Here, we tested whether the HLA-DQβ1 insertion also confers achalasia risk in the Polish and Swedish population. We could replicate the initial findings and the insertion shows strong achalasia association in both samples (Poland P=1.84 × 10(-04), Sweden P=7.44 × 10(-05)). Combining all five European data sets - Central E…

0301 basic medicineMaleEuropean Continental Ancestry GroupShort ReportAchalasiaHuman leukocyte antigenWhite People03 medical and health sciences0302 clinical medicineSwedish populationGeneticGenetics esophageal achalasiaMutation RateGeneticsmedicineotorhinolaryngologic diseasesPrevalenceHLA-DQ beta-ChainsHumansIn patientEsophagusRisk factorGenetics (clinical)GeneticsHLA-DQ beta-ChainPolymorphism Geneticbusiness.industryEuropean populationmedicine.diseaseEsophageal AchalasiaEuropeMutagenesis Insertional030104 developmental biologymedicine.anatomical_structureAttributable risk030211 gastroenterology & hepatologyFemalebusinessHumanDemography
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A functional study of the esophagus in patients with non-cardiac chest pain and dysphagia.

2015

Background/Aims: Nutcracker esophagus and non-specific motility disorders are the main causes of non-cardiac chest pain (NCCP), with gastroesophageal reflux in 60% of cases. Achalasia and diffuse esophageal spasm are the most frequent anomalies described in patients with dysphagia. The goal of this study was to evaluate the occurrence of esophageal body and lower esophageal sphincter motor abnormalities in patients with dysphagia, NCCP, or both. Materials and Methods: This study is a retrospective analysis of 716 patients with NCCP and/or dysphagia tested between January 1994 and December 2010. 1023 functional studies were performed, 707 of which were esophageal manometries, 225 esophageal …

AdultMalemedicine.medical_specialtyChest PainManometryAchalasiaChest painEsophaguGastroenterologyEsophageal Sphincter LowerEsophagusRetrospective StudieInternal medicineotorhinolaryngologic diseasesmedicineHumansIn patientEsophagusDeglutition DisorderNon-cardiac chest painAgedRetrospective StudiesSettore MED/12 - Gastroenterologiabusiness.industryMedicine (all)Esophageal dyskinesiaDysphagia; Esophageal dyskinesia; Gastroesophageal reflux; Non-cardiac chest pain; Adult; Aged; Chest Pain; Deglutition Disorders; Esophageal Achalasia; Esophageal Sphincter Lower; Esophageal Sphincter Upper; Esophagus; Female; Gastroesophageal Reflux; Humans; Hydrogen-Ion Concentration; Male; Manometry; Middle Aged; Retrospective Studies; Gastroenterology; Medicine (all)RefluxGastroenterologyNutcracker esophagusDysphagiaHydrogen-Ion ConcentrationMiddle Agedmedicine.diseaseEsophageal Sphincter UpperDysphagiaSurgeryEsophageal AchalasiaSettore MED/18 - Chirurgia Generalemedicine.anatomical_structureGastroesophageal RefluxEsophageal spasmFemalemedicine.symptombusinessDeglutition DisordersHumanThe Turkish journal of gastroenterology : the official journal of Turkish Society of Gastroenterology
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