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)

The CHARGE association is a multisystem syndrome, with a wide range of phenotypic expression, causing mortality, especially in childhood. We performed a hospital audit, in order to quantify the pulmonary implications, in 28 boys and 19 girls aged 0.02-23 yrs, with a definite diagnosis of CHARGE. A review of the records of these children with CHARGE association revealed that aspiration was common during infancy, as a result of inco-ordination of swallowing and gastro-oesophageal reflux. Aspiration was suspected in 22 of the 47 cases (47%), recurrent chest infections occurred in 22 cases (47%), and lung involvement contributed to 7 out of 17 deaths (41%). We conclude that respiratory morbidity and mortality is common in CHARGE, and decreases with age. Early diagnosis and treatment affords the best prognosis.
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PMID:Lung involvement in the multisystem syndrome CHARGE association. 919 43

Our purpose was to describe the natural history of isolated neonatal swallowing dysfunction (INSD). Nine infants with INSD are described. Eight presented within two weeks of birth. Symptoms included choking and cyanotic spells with feeds, recurrent aspiration, apnea, stridor, and vomiting. Three had nonspecific neurological abnormalities and were diagnosed later in life with underlying disorders (myotonic dystrophy, CHARGE association, velocardiofacial syndrome). All required tube feeding. Six tolerated nasogastric feedings and received a gastrostomy tube. Three failed nasogastric feeds and required jejunal feedings. The gastrostomy tube was removed in 7/9 at a mean age of 37 +/- 9 months. In conclusion, INSD has a good long-term prognosis. The presence of minor neurological abnormalities at presentation suggests another underlying disorder. Nasogastric feeding followed by a gastrostomy is recommended in those without gastroesophageal reflux. Jejunal feedings are necessary in some. While most improve over time, they may need nutritional support for 3 years or more.
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PMID:Isolated neonatal swallowing dysfunction: a case series and review of the literature. 1264 87

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