Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0017168 (gastroesophageal reflux disease)
 11,783 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Gastro-oesophageal reflux (GOR) is a major cause of morbidity in children who undergo surgical repair for oesophageal atresia with tracheo-oesophageal fistula (OA/TOF). We performed a retrospective analysis to determine the incidence of GOR on radionuclide scintigraphy in symptomatic and asymptomatic OA/TOF patients in the first post-operative year. A total of 124 patients (74 males, 50 females), with a mean age of 3.5 months (range, 20 days to 12 months), were studied. Of these 124 patients, 67 were symptomatic and 57 were asymptomatic. On radionuclide scintigraphy, 73 patients (48 symptomatic and 25 asymptomatic) had reflux. Of the 48 symptomatic patients with scintigraphic studies positive for reflux, 79.2% (38) had proximal reflux and 20.8% (10) had distal reflux, whereas, of the 57 asymptomatic patients, 48% (12) had proximal reflux and 52% (13) had distal reflux. There was a significantly higher incidence of GOR in symptomatic children than in asymptomatic children (P<0.01). In particular, there was a significantly higher incidence of proximal GOR in symptomatic children than in asymptomatic children (P<0.001). In conclusion, the severity and incidence of GOR were significantly higher in symptomatic than asymptomatic OA/TOF patients in their first post-operative year. Scintigraphic evidence of proximal reflux correlates with the presence of symptomatic GOR.
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PMID:Radionuclide scintigraphy in the evaluation of gastro-oesophageal reflux in post-operative oesophageal atresia and tracheo-oesophageal fistula patients. 1261 73

Clinically significant gastro-oesophageal reflux (GOR) following oesophageal atresia and tracheo-oesophageal fistula (OA/TOF) repair is commonly considered normal sequela after repair. A retrospective review of patients operated on by two consultants was undertaken. All patients underwent oesophageal tailoring and augmentation for reconstruction of their oesophagus. The presence of clinically significant GOR was confirmed by contrast swallows, 24 hour pH study and endoscopy. Clinically significant GOR occurred in 7 (13%) of the 54 patients operated for OA and TOF. Two patients responded to non-surgical management. Four children (one with extensive tracheo-bronchomalacia and one with CHARGE association) had anti-reflux surgery (three Nissen and one Thal). We believe that oesophageal tailoring and augmentation for reconstruction of the oesophagus has the advantage of creating a more uniform oesophagus thus avoiding swallowing difficulty, bolus obstruction and the need of oesophageal dilatations too often accepted as integral to the problem following OA repair.
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PMID:Clinically significant gastro-oesophageal reflux following oesophageal flap repair for oesophageal atresia and tracheo-oesophageal fistula. 1634 34

Esophageal adenocarcinoma (EA) incidence is increasing rapidly and is associated with a poor prognosis. Identifying biomarkers of disease development and progression would be invaluable tools to inform clinical practice. Two-dimensional polyacrylamide gel electrophoresis was used to screen 10 esophageal cell lines representing distinct stages in the development of esophageal cancer. Thirty-three proteins were identified by MALDI-TOF-MS which demonstrated differences in expression across the cell lines. Western blotting and qRT-PCR confirmed increased cathepsin D and aldo-keto reductases 1C2 and 1B10 expression in metaplastic and dysplastic cell lines. Expression of these proteins was further assessed in esophageal epithelium from patients with nonerosive (NERD) and erosive gastro-esophageal reflux disease, Barrett's esophagus (BE) and EA. When compared with normal epithelium of NERD patients, (i) cathepsin D mRNA levels demonstrated a stepwise increase in expression (p<0.05) in erosive, metaplastic and EA tissue; (ii) AKR1B10 expression increased (p<0.05) 3- and 9-fold in erosive and Barrett's epithelium, respectively; and (iii) AKR1C2 levels increased (p<0.05) in erosive and Barrett's epithelium, but were reduced (p<0.05) in EA. These proteins may contribute to disease development via effects on apoptosis, transport of bile acids and retinoid metabolism and should be considered as candidates for further mechanistic and clinical investigations.
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PMID:Proteomic screening of a cell line model of esophageal carcinogenesis identifies cathepsin D and aldo-keto reductase 1C2 and 1B10 dysregulation in Barrett's esophagus and esophageal adenocarcinoma. 1839 2

Adamowicz and colleagues raised the alert in 2007 about patients with atypical hereditary fructose intolerance (HFI) primarily misdiagnosed as CDG Ix. We describe a girl with neonatal hypertonia, facial trismus, absent swallowing and coughing reflexes, gastro-oesophageal reflux and sporadically elevated Krebs cycle metabolites and lactate. At 14 months microcephaly and hepatomegaly were noted, with hypertransaminasaemia but normal blood coagulation, glucose, phosphate, and absent urinary reducing substances. Neurological impairment persisted. Because of hepatic and neurological abnormalities with developmental delay, Tf IEF was performed and showed a severe type 1 pattern, resulting in a wrong diagnosis of CDG. Subsequently, an aversion to fruits suggested HFI, confirmed by the finding of ALDOB mutations (p.A150P/p.N335K). The girl improved with fructose-free diet, but liver cirrhosis led to hepatic transplantation. She is now 7 years old with good evolution; facial trismus and hypertonia reversed, but microcephaly persists. Transferrin MALDI-TOF MS characterization revealed underoccupation of glycosylation sites and glycan abnormalities, which reversed with dietary treatment. High maternal fructose concentrations might have caused neonatal abnormalities. Although in our patient's mother there is no fructose accumulation at present, it is possible that increased ingestion of fruits and vegetables during pregnancy, together with her heterozygosity, caused an accumulation of fructose that finally affected the fetus. We also describe slightly abnormal transferrin isoelectric focusing and MALDI-TOF MS patterns of intact transferrin and N-glycans in a fructose-1,6-bisphosphatase (FBP1)-deficient patient. While HFI is a well-known cause of secondary CDG, we found no reports of abnormal transferrin isoelectric focusing patterns in FBP1 deficiency and we introduce this condition as a possible secondary cause for altered transferrin isoelectric focusing.
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PMID:Secondary disorders of glycosylation in inborn errors of fructose metabolism. 1976 53

Oesophageal atresia and tracheoesophageal fistula (OA-TOF) are a multifaceted condition which affects patients throughout their lives. Even though it is one of the most common gastrointestinal malformations, most of the current studies focus on gastro-oesophageal reflux disease, anastomotic strictures, and feeding difficulties. However, there is increasing evidence that a proportion of patients with OA-TOF also have abnormal gastric function. This review aims to provide a comprehensive understanding of studies of gastric function in patients with OA-TOF. The etiology of this abnormality has been hypothesized to be congenital and/or acquired. Several modalities are currently available for the investigation of gastric function, each of them trying to answer specific clinical questions. This review summarizes the studies that have looked at gastric function in the OA-TOF cohort with gastric emptying studies (gastric emptying scintigraphy and 13C octanoic breath test), gastric manometry, electrogastrography, and oral glucose tolerance test. However, these modalities are limited due to poor age-specific normative values and heterogeneous methodologies used. The evaluation of symptoms in this cohort is crucial, modalities for abnormal gastric function are also described. With appropriate investigations and symptoms questionnaires, treatment strategies can be implemented to correct abnormal gastric function and thereby improve the outcomes and quality of life of patients with OA-TOF. This review highlights the need for large international multicentre collaborative studies and high-quality prospective randomized controlled trials to improve our understanding of gastric function in this cohort.
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PMID:Gastric Function in Children with Oesophageal Atresia and Tracheoesophageal Fistula. 2844 27