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)

Gastroesophageal reflux (GER) is one of the most frequent symptomatic clinical disorders affecting the gastrointestinal tract of infants and children. During the past 2 decades, GER has been recognized more frequently because of an increased awareness of the condition and also because of the more sophisticated diagnostic techniques that have been developed for both identifying and quantifying the disorder. Gastroesophageal fundoplication is currently one of the three most common major operations performed on infants and children by pediatric surgeons in the United States. Normal gastroesophageal function is a complex mechanism that depends on effective esophageal motility, timely relaxation and contractility of the lower esophageal sphincter, the mean intraluminal pressure in the stomach, the effectiveness of contractility in emptying of the stomach, and the ease of gastric outflow. More than one of these factors are often abnormal in the same child with symptomatic GER. In addition, in patients with GER disease, and particularly in those patients with neurologic disorders, there appears to be a high prevalence of autonomic neuropathy in which esophagogastric transit and gastric emptying are frequently delayed, producing a somewhat complex foregut motility disorder. GER has a different course and prognosis depending on the age of onset. The incompetent lower esophageal sphincter mechanism present in most newborn infants combined with the increased intraabdominal pressure from crying or straining commonly becomes much less frequent as a cause of vomiting after the age of 4 months. Chalasia and rumination of infancy are self-limited and should be carefully separated from symptomatic GER, which requires treatment. The most frequent complications of recurrent GER in childhood are failure to thrive as a result of caloric deprivation and recurrent bronchitis or pneumonia caused by repeated pulmonary aspiration of gastric fluid. Children with GER disease commonly have more refluxing episodes when in the supine position, particularly during sleep. The reflux of acid into the mid or upper esophagus may stimulate vagal reflexes and produce reflex laryngospasm, bronchospasm, or both, which may accentuate the symptoms of asthma. Reflux may also be a cause of obstructive apnea in infants and possibly a cause of recurrent stridor, acute hypoxia, and even the sudden infant death syndrome. Premature infants with respiratory distress syndrome have a high incidence of GER. Esophagitis and severe dental carries are common manifestations of GER in childhood. Barrett's columnar mucosal changes in the lower esophagus are not infrequent in adolescent children with chronic GER, particularly when Heliobacter pylori is present in the gastric mucosa. Associated disorders include esophageal dysmotility, which has been recognized in approximately one third of children with severe GER. Symptomatic GER is estimated to occur in 30% to 80% of infants who have undergone repair of esophageal atresia malformations. Neurologically impaired children are at high risk for having symptomatic GER, particularly if nasogastric or gastrostomy feedings are necessary. Delayed gastric emptying (DGE) has been documented with increasing frequency in infants and children who have symptoms of GER, particularly those with neurologic disorders. DGE may also be a cause of gas bloat, gagging, and breakdown or slippage of a well-constructed gastroesophageal fundoplication. The most helpful test for diagnosing and quantifying GER in childhood is the 24-hour esophageal pH monitoring study. Miniaturized probes that are small enough to use easily in the newborn infant are available. This study is 100% accurate in diagnosing reflux when the esophageal pH is less than 4.0 for more than 5% of the total monitored time.
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PMID:Gastroesophageal reflux in childhood. 853 88

Esophageal dysfunctions occur frequently in patients with diabetic autonomic neuropathy, and the complication of gastroesophageal reflux disease (GERD) has also been reported. However, the characteristics of the GERD complicated with diabetes are obscure, because no detail assessment was performed. We recorded esophageal motility and acid reflux simultaneously in diabetic patients, and the correlation between esophageal dysfunction and diabetic neuropathy was examined. Esophageal dysfunctions including GERD were significantly related to diabetic motor neuropathy. Although the GERD is frequently complicated with diabetes, the symptoms are not apparent in diabetic patients. Therefore, physicians treating diabetic patients should have GERD in mind regardless of the symptoms. We also examined the effect of aldose reductase inhibitor (ARI) on the esophageal dysfunction in diabetic patients. Significant improvement of gastroesophageal reflux and esophageal motility were observed in diabetic patients by ARI treatment. ARI may be useful for the treatment of GERD complicated with diabetes.
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PMID:[Gastroesophageal reflux disease in diabetic patients]. 1534 49

The 13C-octanoic acid breath test is considered a useful tool to measure gastric emptying both in physiological and pathological conditions. Many studies have concerned functional dyspepsia. Recently, breath test has been used in predicting a delayed gastric emptying in subsets of dyspeptic symptoms. In detail only postprandial fullness and vomiting are resulted significantly correlated with delayed solid emptying. Besides in the patients with dyspepsia and irritable bowel syndrome associated, intestinal disturbances did not seem to contribute to delay gastric emptying. In diabetic patients octanoate test has confirmed the percentages of delayed emptying obtained by means of scintigraphy. In other organic states (celiac disease, cirrhosis, renal failure, neurological disease, etc) most of reports have proved a delayed emptying of solids. In GERD and ulcer disease gastric function is resulted normal, being accelerated in distal gastrectomy and in hyperemesis gravidarum. From pathophysiological point of view Helicobacter pylori, extrinsic autonomic neuropathy (apart from diabetes) and autoimmunity do not seem to relate with gastric emptying, both in functional and organic disease.
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PMID:13C-octanoic acid breath test in functional and organic disease: critical review of literature. 1645 24

The GERD pathogenesis may be associated with disturbances of the autonomic nervous system (ANS), which can be revealed using heart rate variability studies (HRV). The aim of presented study was to estimate the circadian ANS activity in 24-hour HRV recordings in GERD patients, both in non-erosive form (NERD), and with erosive, inflammatory changes in the esophagus (ERD patients). Our results demonstrated disturbances in the parasympathetic ANS part, but they also delivered the proofs for possible sympathetic disorder. That is why the autonomic neuropathy in GERD patients may have mixed character.
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PMID:24-hour heart rate variability in patients with gastroesophageal reflux disease. 1703 87

Allgrove syndrome (triple A) is a rare autosomal recessive disease. The classic triad includes, congenital adrenal insufficiency due to ACTH resistance, achalasia of the cardia and alacrimia. Neurological abnormalities are associated with autonomic neuropathy, sensory and motor defects, deafness, mental retardation, Parkinsonism and dementia. The gene responsible is the ADRACALIN or AAAS encoding a protein called ALADIN. We report a case of a 19 year-old male, assessed when he was 10 years old in our department due to suspected storage disease. Mild mental and language retardation, hypernasal voice, sensory-motor neuropathy with autonomic involvement and signs of spastic paraparesis, alacrimia. gastroesophageal reflux, and achalasia. Molecular studies showed to mutations, the undescribed p.Tyr 19 Cys, and IVS14 +1 G.
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PMID:[Allgrove syndrome (triple A). Finding of a mutation not described in the AAAS gene]. 2282 7

Gastrointestinal motility is impaired in a substantial proportion of patients with cirrhosis. Cirrhosis-related autonomic neuropathy, increased nitric oxide production, and gut hormonal changes have been implicated. Oesophageal dysmotility has been associated with increased frequency of abnormal gastro-oesophageal reflux. Impaired gastric emptying and accommodation may result in early satiety and may have an impact on the nutritional status of these patients. Small intestinal dysmotility might be implicated in small intestinal bacterial overgrowth and increased bacterial translocation. The latter has been implicated in the pathophysiology of hepatic encephalopathy and spontaneous bacterial peritonitis. Enhanced colonic motility is usually associated with the use of lactulose. Pharmacological interventions aiming to alter gastrointestinal motility in cirrhosis could potentially have a beneficial effect reducing the risk of hepatic decompensation and improving prognosis.
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PMID:Gastrointestinal Motility Disorders and Their Clinical Implications in Cirrhosis. 2858 25

Riley-Day syndrome is an autosomal recessive sensory and autonomic neuropathy. Patients present a lack of fungiform papilla, alacrima and usually feeding difficulties. It is present almost exclusively in Ashkenazi Jewish individuals and has a poor prognosis. We describe an unusual case of Riley-Day syndrome with pseudostrabismus in a non-Ashkenazi Jewish patient. A one-year-old female infant was referred for evaluation of strabismus, absence of fungiform papillae, feeding difficulty, gastroesophageal reflux and episodes of self-mutilation. Deep tendon reflexes were depressed, the blinking rate and corneal reflex were diminished as well and corneas were opaque due to corneal erosions. Reduced lacrimal production was confirmed by the Schirmer test. Eye drops were recommended every 2-3 hours for corneal erosion and the patient was referred to the genetics department for further diagnostic confirmation.
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PMID:Riley-Day Syndrome in a Hispanic Infant of Non-Jewish Ashkenazi Descent. 2889 50