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

The base of the proximal esophageal pouch in babies born with esophageal atresia varies in location from the low cervical region to the upper third of the mediastinum, but the relevance of this finding to the VATER association is not known. The initial radiographs and hospital records of 42 newborns with esophageal atresia and a distal tracheoesophageal fistula treated in the Newborn Special Care Unit of the Yale-New Haven Hospital between 1977 and 1986 were examined to (1) determine the location of the base of the upper esophageal pouch on its superimposed vertebral body; (2) identify coexisting VATER associated anomalies; and (3) detect the presence of vertebral, rib, or sternal anomalies. Ten of 11 babies with the upper esophageal pouch at the first thoracic vertebra or above had additional VATER defects including vertebral, rib, or sternal anomalies. These patients also required staged repair or circular myotomy for wide gap esophageal atresia and were at greater risk of anastomotic leak, stricture, or gastroesophageal reflux requiring fundoplication. High proximal pouch esophageal atresia accompanied by vertebral, rib, and sternal anomalies constitutes a heretofore unrecognized high risk group with the VATER association.
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PMID:High proximal pouch esophageal atresia with vertebral, rib, and sternal anomalies: an additional component to the VATER association. 335 34

Twelve of forty patients (30%) treated for esophageal atresia at the Children's Memorial Hospital in Chicago between June 1976 and May 1980 required a circular esophagomyotomy with or without upper pouch bougienage to achieve an anatomical repair. Ten patients had a distal tracheoesophageal fistula; 1 had a proximal fistula as well; and 2 had no fistula. Over 40% of the patients were small for gestational age. One half had severe associated anomalies including congenital heart disease in 1/3 and the VATER association in 1/4. Three patients died, all from congenital heart disease. Immediate complications in 6 patients included anastomotic leaks (3), tracheal injuries (2), and mucosal entry at the myotomy site (1). Late complications included symptomatic gastroesophageal reflux (60%), anastomotic strictures (40%), and severe tracheomalacia requiring long-term tracheotomy (20%). Altered esophageal motility (77%) contributed to poor weight gain (less than 3rd percentile) in most patients. In spite of these complications, satisfactory results were achieved in 8 of the 9 long-term survivors. The ninth patient had a turbulent neonatal period and has persistent swallowing difficulties at 36 mo follow-up. Although an anatomical repair can now be achieved in all patients with esophageal atresia utilizing bougienage and myotomy, some ill neonates may be better served by traditional staging techniques.
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PMID:Circular esophagomyotomy for primary repair of long-gap esophageal atresia. 725 42

A laryngo-tracheo-esophageal cleft (LC) is a congenital malformation characterized by an abnormal, posterior, sagittal communication between the larynx and the pharynx, possibly extending downward between the trachea and the esophagus. The estimated annual incidence of LC is 1/10,000 to 1/20,000 live births, accounting for 0.2% to 1.5% of congenital malformations of the larynx. These incidence rates may however be underestimated due to difficulty in diagnosing minor forms and a high mortality rate in severe forms. A slightly higher incidence has been reported in boys than in girls. No specific geographic distribution has been found. Depending on the severity of the malformation, patients may present with stridor, hoarse cry, swallowing difficulties, aspirations, cough, dyspnea and cyanosis through to early respiratory distress. Five types of laryngo-tracheo-esophageal cleft have been described based on the downward extension of the cleft, which typically correlates with the severity of symptoms: Type 0 laryngo-tracheo-esophageal cleft to Type 4 laryngo-tracheo-esophageal cleft. LC is often associated with other congenital abnormalities/anomalies (16% to 68%), mainly involving the gastro-intestinal tract, which include laryngomalacia, tracheo-bronchial dyskinesia, tracheo-bronchomalacia (mostly in types 3 and 4), and gastro-esophageal reflux disease (GERD). The syndromes most frequently associated with an LC are Opitz/BBB syndrome, Pallister Hall syndrome, VACTERL/VATER association, and CHARGE syndrome. Laryngeal clefts result from failure of fusion of the posterior cricoid lamina and abnormal development of the tracheo-esophageal septum. The causes of the embryological developmental anomalies leading to LC are not known but are thought to be multifactorial. LC appears to be mostly sporadic although some familial cases with suspected autosomal dominant transmission have been reported. The age of diagnosis depends mainly on the severity of the clinical symptoms and therefore on the extent of the LC. Diagnosis is made either based on clinical manifestations or on investigations, such as endoscopy, X-ray, CT scan, performed for other conditions. Differential diagnoses include tracheo-bronchial fistula, gastro-esophageal reflux disease and neurological swallowing disorders, as well as laryngomalacia and laryngeal palsy. Prenatal diagnosis of LC has never been reported, although associated anomalies may be detected on fetal ultrasonography. Once the cleft is diagnosed, it is essential to determine its length to orient the management and treatment approach. Management involves maintenance of satisfactory ventilation, prevention of secondary pulmonary complications as a result of repeated aspirations, and adequate feeding. Endotracheal intubation may be required for respiratory distress in severe cases. Treatment requires endoscopic or external surgery to close the cleft. Surgery should be performed as early as possible to avoid complications related to aspiration and gastric reflux, except in type 0 and type 1 cases in which conservative measures must first be attempted. The prognosis is variable depending on the severity of the LC and associated malformations. Early diagnosis and appropriate treatment and management help to reduce mortality and morbidity.
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PMID:Laryngo-tracheo-oesophageal clefts. 2215 99