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)

Eighteen patients with a diagnosis of the Rubinstein-Taybi syndrome (RTS) 18 to 23 years ago were traced and the survivors were seen personally. The diagnosis was confirmed in 11 patients. Three of these, all women, had died (ages 9, 37, and 52 years) from infections. The remaining 8 were doing well despite a variety of medical problems including structural lesions of the eyes, severe dental caries, gastroesophageal reflux, and mild keloid scarring. The original diagnosis could not be confirmed in 7 patients although some characteristics of the RTS were found in each. One patient was thought to have the Cornelia de Lange syndrome, and one the Ruvalcaba syndrome but no formal diagnosis was reached in the others.
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PMID:Rubinstein-Taybi syndrome: a follow-up study. 211 81

The developmental disorder Rubinstein-Taybi syndrome (RTS) is frequently complicated by recurrent respiratory infections. In many cases this is likely to be the result of microaspiration or gastro-oesophageal reflux but, in a proportion, underlying antibody deficiency is a potentially modifiable susceptibility factor for infection. Relatively subtle, specific defects of pneumococcal antibody production have previously been described in the context of RTS. Here, we report a rare association between the syndrome and an overt, major primary antibody deficiency disorder (common variable immune deficiency) which was successfully managed with immunoglobulin replacement therapy. Early recognition and investigation for antibody deficiency associated with RTS allied to effective and optimized treatment are essential to minimize morbidity and mortality and improve quality and duration of life.
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PMID:Antibody deficiency in Rubinstein-Taybi syndrome. 2630 39

Rubinstein-Taybi syndrome (RTS) is a rare, autosomal dominant syndrome presenting with mental retardation and physical abnormalities, including broad thumbs, big and broad toes, short stature and craniofacial anomalies. Special attention was paid to the possibilities of difficult airway, aspiration pneumonia and cardiovascular dysfunction during anaesthesia. Micrognathia, retrognathia, broad nasal bridge, abnormally large or 'beak-shaped' nose, hypoplastic maxilla and small mouth-typical dysmorphic facial features are one of the biggest causes of the difficult airway in this syndrome. Approximately one-third of the affected individuals have a variety of congenital heart diseases. Recurrent respiratory infections are likely to be the result of microaspiration or gastro-oesophageal reflux in this syndrome. In this case report, we discussed the anaesthesia management of a child with RTS who underwent right endoscopic dacryocystorhinostomy.
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PMID:Anaesthetic Management of Children with Rubinstein-Taybi Syndrome. 2736 79