Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0021843 (bowel obstruction)
 9,927 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The G syndrome is a multiple congenital anomaly (MCA) syndrome of hypertelorism, hypospadias, stridor, and swallowing difficulties. Cleft lip and palate, cardiac defects, cranial asymmetry, and bowel obstruction are occasional manifestations. Family data suggest autosomal dominant inheritance. Males appear to have more serious manifestations, whereas most females with the G syndrome have a benign course and are ascertained through affected male relatives. In the family reported here, the proposita was first seen at age 7 weeks because of swallowing difficulties, stridor, and unusual facial appearance, reminiscent of the G syndrome. Evaluation of the family showed striking facial changes in her father and all four of his sibs. These five individuals had megalencephaly, hypertelorism, and a broad prominent nasal root and bridge, reminiscent of the facial appearance in the BBB syndrome. There was no evidence for dysphagia, respiratory abnormality, or hoarse voice in any other relative. These individuals with the G syndrome display two unusual manifestations. There are no males with hypospadias; the proposita has the most severe laryngotracheoesophageal symptoms. Although hypospadias is not an invariable manifestation of the G syndrome and although six females with severe dysphagia or respiratory abnormalities have been reported previously, the manifestations in this family underline the variability of this condition and provide further support that the G syndrome can be expressed with equal severity in both males and females. Although phenotypic overlap between the BBB and G syndromes has long been recognized, many still consider them to be distinct nosologic entities. The occurrence of both BBB and G syndrome in different members of the same family has been observed previously.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:G syndrome: an unusual family. 322 42

Aspiration around uncuffed endotracheal tubes in paediatric patients is an uncommon event. Uncuffed endotracheal tubes are commonly used in paediatrics even when the risk of gastric aspiration is significant. A case history is presented of an 81/2-year-old who aspirated during a laparotomy for bowel obstruction. The patient was intubated with an uncuffed #6.0 Portex endotracheal tube. A small leak was noted during positive pressure ventilation. The aspiration was significant such that the patient required 24 hours of positive end-expiratory pressure (PEEP) in an intensive care unit. Uncuffed endotracheal tubes are used because post-intubation stridor is minimized, the lungs are compliant and the funnel-shaped trachea is more likely to secure the airway from aspiration. An uncuffed tube however, does not completely seal the airway, particularly in the presence of an audible "leak." As a result of this case, we now consider the use of a cuffed endotracheal tube in children whenever a 5.5 internal diameter or larger is required. When the risk of pulmonary aspiration is present, the cuff is inflated to reduce the likelihood of contamination of the airway.
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PMID:Intraoperative aspiration in a paediatric patient. 407 15