Item
*Inclusion Criteria:* Subjects will be screened by questionnaire with or without heartburn symptom, endoscopic examination, histological examination, and 48-hour pH monitoring. A subject will be considered for enrollment into this study if the results of his/her screening examinations are diagnostic for one of the following four phenotypes:
text
C1512693 (UMLS CUI [1,1])
C0220908 (UMLS CUI [1,2])
C0034394 (UMLS CUI [1,3])
C0332288 (UMLS CUI [1,4])
C0018834 (UMLS CUI [1,5])
C0014245 (UMLS CUI [1,6])
C0019638 (UMLS CUI [1,7])
C0202165 (UMLS CUI [1,8])
Code List
*Inclusion Criteria:* Subjects will be screened by questionnaire with or without heartburn symptom, endoscopic examination, histological examination, and 48-hour pH monitoring. A subject will be considered for enrollment into this study if the results of his/her screening examinations are diagnostic for one of the following four phenotypes:
Item
*Normal control:* Normal control will be selected from subjects who present to the GI Clinics. The normal control should meet all of the following four criteria: 1) no reflux symptoms, such as heart burn; 2) normal endoscopic findings; 3) histopathological examination shows no inflammatory infiltrate or less than 10 lymphocytes per high power field (HPF, 400x magnification) in the squamous epithelium; 4) normal pH range (the fraction time of pH < 4 and DeMeester score < 14.72) with 48-hour pH monitoring test. Besides the classic normal phenotype, there are two variants. *Perinormal:* subjects meet all the normal control criteria but pathological examination was not performed because gastroenterologists decided there was no indication to take biopsies based on the EGD findings. *Treated Normal:* Subjects meet all the normal control criteria but are have been treated recently with PPI or antacid.
text
C0009932 (UMLS CUI [1,1])
C1298908 (UMLS CUI [1,2])
C0017168 (UMLS CUI [1,3])
C0205307 (UMLS CUI [1,4])
C0014245 (UMLS CUI [1,5])
C0019638 (UMLS CUI [1,6])
C1298908 (UMLS CUI [1,7])
C0021368 (UMLS CUI [1,8])
C0205307 (UMLS CUI [1,9])
C0202165 (UMLS CUI [1,10])
C0009932 (UMLS CUI [2,1])
C1298908 (UMLS CUI [2,2])
C0005558 (UMLS CUI [2,3])
C0087111 (UMLS CUI [3,1])
C0358591 (UMLS CUI [3,2])
Code List
*Normal control:* Normal control will be selected from subjects who present to the GI Clinics. The normal control should meet all of the following four criteria: 1) no reflux symptoms, such as heart burn; 2) normal endoscopic findings; 3) histopathological examination shows no inflammatory infiltrate or less than 10 lymphocytes per high power field (HPF, 400x magnification) in the squamous epithelium; 4) normal pH range (the fraction time of pH < 4 and DeMeester score < 14.72) with 48-hour pH monitoring test. Besides the classic normal phenotype, there are two variants. *Perinormal:* subjects meet all the normal control criteria but pathological examination was not performed because gastroenterologists decided there was no indication to take biopsies based on the EGD findings. *Treated Normal:* Subjects meet all the normal control criteria but are have been treated recently with PPI or antacid.
Item
*Reflux esophagitis (RE):* Subjects should meet all of the following four criteria: 1) reflux symptoms, such as heart burn; 2) endoscopic esophagitis, classified to Grade A, B, C, and D according Los Angeles Classification of reflux esophagitis; 3) histopathological esophagitis, characterized by basal zone hyperplasia exceeding 20% of the epithelial thickness, papillae extending into the superficial third of the epithelium, and presence of lymphocytes equal to or more than 10 cells/HPF or any numbers of eosinophils or polymorphonuclear leukocytes; 4) evidence of gastric reflux, determined by 48-hour pH monitoring test, abnormal Brovo pH monitoring with the fraction time of pH > 4% and DeMeester score > 14.72. Besides the classic reflux esophagitis phenotype, there are two variants. *Partial esophagitis:* these patients have reflux symptoms and abnormal pH test results but either EGD or pathology but not both shows evidence of esophagitis. *No-esophagitis (NERD):* these patients have reflux symptoms and abnormal pH test results but both EGD and pathology show no evidence of esophagitis.
text
C0017168 (UMLS CUI [1,1])
C0018834 (UMLS CUI [1,2])
C0014868 (UMLS CUI [1,3])
C0014245 (UMLS CUI [1,4])
C0019638 (UMLS CUI [1,5])
C0205161 (UMLS CUI [1,6])
C0202165 (UMLS CUI [1,7])
C1881447 (UMLS CUI [1,8])
C1883701 (UMLS CUI [1,9])
C1881342 (UMLS CUI [1,10])
C1881343 (UMLS CUI [1,11])
C1881344 (UMLS CUI [1,12])
C0017168 (UMLS CUI [2,1])
C0205161 (UMLS CUI [2,2])
C0202165 (UMLS CUI [2,3])
C1521733 (UMLS CUI [2,4])
C0014245 (UMLS CUI [2,5])
C0332288 (UMLS CUI [2,6])
C0019638 (UMLS CUI [2,7])
C0017168 (UMLS CUI [3,1])
C0019638 (UMLS CUI [3,2])
C0205161 (UMLS CUI [3,3])
C0202165 (UMLS CUI [3,4])
C0332288 (UMLS CUI [3,5])
C1521733 (UMLS CUI [3,6])
C0014245 (UMLS CUI [3,7])
C0019638 (UMLS CUI [3,8])
Code List
*Reflux esophagitis (RE):* Subjects should meet all of the following four criteria: 1) reflux symptoms, such as heart burn; 2) endoscopic esophagitis, classified to Grade A, B, C, and D according Los Angeles Classification of reflux esophagitis; 3) histopathological esophagitis, characterized by basal zone hyperplasia exceeding 20% of the epithelial thickness, papillae extending into the superficial third of the epithelium, and presence of lymphocytes equal to or more than 10 cells/HPF or any numbers of eosinophils or polymorphonuclear leukocytes; 4) evidence of gastric reflux, determined by 48-hour pH monitoring test, abnormal Brovo pH monitoring with the fraction time of pH > 4% and DeMeester score > 14.72. Besides the classic reflux esophagitis phenotype, there are two variants. *Partial esophagitis:* these patients have reflux symptoms and abnormal pH test results but either EGD or pathology but not both shows evidence of esophagitis. *No-esophagitis (NERD):* these patients have reflux symptoms and abnormal pH test results but both EGD and pathology show no evidence of esophagitis.
Item
*Barrett's esophagus (BE):* esophageal squamous epithelium replaced by intestinal-type epithelial cells and goblet cells. BE is categorized as either long-segment (BE-L) or short-segment disease (BE-S): BE-L affects 3 cm or more of the esophagus while BE-S affects less than 3 cm of the esophagus.
text
C1333324 (UMLS CUI [1,1])
Code List
*Barrett's esophagus (BE):* esophageal squamous epithelium replaced by intestinal-type epithelial cells and goblet cells. BE is categorized as either long-segment (BE-L) or short-segment disease (BE-S): BE-L affects 3 cm or more of the esophagus while BE-S affects less than 3 cm of the esophagus.
Item
*Esophageal Adenocarcinoma (EA):* atypical intestinal-type glands with high grade dysplasia. There are two subphenotypes: 1) adenocarcinoma *in situ*, defined by the absence of invasion of tumor cells through the basement membrane. 2) invasive adenocarcinoma, defined by the presence of invasion of tumor cells into the submucosa or below.
text
C1522619 (UMLS CUI [1,1])
C0001418 (UMLS CUI [1,2])
C0001418 (UMLS CUI [2,1])
C0007099 (UMLS CUI [2,2])
C0001418 (UMLS CUI [3,1])
C1334274 (UMLS CUI [3,2])
Code List
*Esophageal Adenocarcinoma (EA):* atypical intestinal-type glands with high grade dysplasia. There are two subphenotypes: 1) adenocarcinoma *in situ*, defined by the absence of invasion of tumor cells through the basement membrane. 2) invasive adenocarcinoma, defined by the presence of invasion of tumor cells into the submucosa or below.
Item
The final decision on enrollment of a subject will be determined by frequency-match on gender, ethnic background, and age within 10 years.
text
C1708943 (UMLS CUI [1,1])
C0079399 (UMLS CUI [1,2])
C0015031 (UMLS CUI [1,3])
C0001779 (UMLS CUI [1,4])
Code List
The final decision on enrollment of a subject will be determined by frequency-match on gender, ethnic background, and age within 10 years.
Elig.phs000260.v4.p2.7
Item
*Exclusion Criteria:*
text
C0680251 (UMLS CUI [1,1])
Item
Use of antibioics within 8 weeks before the scheduled endoscopic examination
text
C0205156 (UMLS CUI [1,1])
C1524063 (UMLS CUI [1,2])
C0003232 (UMLS CUI [1,3])
Code List
Use of antibioics within 8 weeks before the scheduled endoscopic examination
Item
Previous gastric/esophageal surgery
text
C0205156 (UMLS CUI [1,1])
C1522619 (UMLS CUI [1,2])
C0038351 (UMLS CUI [1,3])
C0543467 (UMLS CUI [1,4])
Code List
Previous gastric/esophageal surgery
Item
Active infection of the oral cavity
text
C0009450 (UMLS CUI [1,1])
C0226896 (UMLS CUI [1,2])
Code List
Active infection of the oral cavity
Item
Active gastric ulcer disease or gastric cancer
text
C0205177 (UMLS CUI [1,1])
C0038358 (UMLS CUI [1,2])
C0699791 (UMLS CUI [1,3])
Code List
Active gastric ulcer disease or gastric cancer
Item
Persons younger than 18 years of age
text
C0001779 (UMLS CUI [1,1])
Code List
Persons younger than 18 years of age
Item
Pregnant women, because the natural history of reflux disease in pregnancy is different from GERD in general populations that leads to metaplasia and/or dysplasia
text
C0032961 (UMLS CUI [1,1])
Code List
Pregnant women, because the natural history of reflux disease in pregnancy is different from GERD in general populations that leads to metaplasia and/or dysplasia
Item
Persons with an HIV infection
text
C0019693 (UMLS CUI [1,1])
Code List
Persons with an HIV infection
Item
For safety reasons, we wll exclude potential subjects with coagulopathy (INR > 2.0) or thrombocytopenia (platelet count < 50) since this study involves repeated mucosal sampling.
text
C0005779 (UMLS CUI [1,1])
C0040034 (UMLS CUI [1,2])
Code List
For safety reasons, we wll exclude potential subjects with coagulopathy (INR > 2.0) or thrombocytopenia (platelet count < 50) since this study involves repeated mucosal sampling.
Item
Subjects at high risk for developing endocarditis, such as those with a history of endocarditis, rheumatic heart disease, or heart valve prosthesis who might require antibiotic prophylaxis for the endoscopic examination.
text
C0262926 (UMLS CUI [1,1])
C0014118 (UMLS CUI [1,2])
C0018825 (UMLS CUI [1,3])
C0035439 (UMLS CUI [1,4])
Code List
Subjects at high risk for developing endocarditis, such as those with a history of endocarditis, rheumatic heart disease, or heart valve prosthesis who might require antibiotic prophylaxis for the endoscopic examination.
Item
Subjects with a history of intestinal ischemia and those with severe cardiopulmonary disease, or neurological impairment.
text
C0262926 (UMLS CUI [1,1])
C0853812 (UMLS CUI [1,2])
C0205082 (UMLS CUI [1,3])
C0553534 (UMLS CUI [1,4])
C3808195 (UMLS CUI [1,5])
C0205494 (UMLS CUI [1,6])
Code List
Subjects with a history of intestinal ischemia and those with severe cardiopulmonary disease, or neurological impairment.
Item
Subject who has an imperforate anus, recent anal or rectal surgery.
text
C0003461 (UMLS CUI [1,1])
C0205052 (UMLS CUI [1,2])
C0543467 (UMLS CUI [1,3])
Code List
Subject who has an imperforate anus, recent anal or rectal surgery.