Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0037315 (sleep apnea)
 8,000 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Upregulation of brain adenosine receptors in DBA/2J mice as affected by theophylline and caffeine, adenosine antagonists, was examined following subcutaneous drug implantation to ensure chronic exposure. Scatchard analysis of binding to membranes of cerebral cortex and cerebellum from individual mice showed a differential upregulation of (-)-N6-R-[G-3H]phenylisopropyladenosine ([3H]-L-PIA) binding density by theophylline. After 14 days of exposure to theophylline (serum concentration of 1.2 +/- 0.01 micrograms/ml measured by HPLC analysis), the Bmax for L-PIA binding to cerebellar membranes increased 22% over the control mice (statistically significant at P less than 0.01 level). Theophylline had no effect on the Bmax for L-PIA binding to cerebral cortical membranes. The observed increases in Bmax values of cerebellar (13.2%) and cerebral cortical membrane binding (14.2%) on chronic exposure to caffeine (7.1 +/- 0.5 micrograms/ml) were not statistically significant at the P less than or equal to 0.05 level. Neither methylxanthine affected the dissociation constant, KD, for L-PIA. The increased potential for adenosine receptor upregulation by theophylline compared to caffeine following chronic, low level exposure suggests that caffeine treatment for sleep apnea may be preferred to the standard theophylline therapy.
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PMID:Chronic exposure to subcutaneously implanted methylxanthines. Differential elevation of A1-adenosine receptors in mouse cerebellar and cerebral cortical membranes. 360 53

Diamond-Blackfan anemia (DBA) is a congenital erythroid aplasia or hypoplasia presenting in infancy as a macrocytic anemia. It has been linked to a gene defect resulting in the absence of specific ribosomal proteins that enable erythroid maturation. Treacher Collins syndrome is also associated with defective ribosomal biogenesis. Fifty percent of patients with DBA also present with additional physical abnormalities including growth delay, craniofacial abnormalities, upper limp abnormalities, cardiac defects, urogenital malformations, and cleft palate. Upper airway obstruction may be a complication from craniofacial disorders and may be responsible for life-threatening sleep apnea that may result in pneumonia or respiratory failure. This report is of a patient with DBA who presented at birth with respiratory distress secondary to tongue-based obstruction of the airway due to mandibulofacial dysostosis leading to need for intubation. In an effort to avoid a tracheostomy, the patient underwent bilateral internal mandibular osteodistraction on day 4 of life with a latency period of 0 days and a distraction at a rate of 2 mm/d for 10 days until a class 3 dental occlusion existed with 5 mm of overcorrection. In addition, the patient was born with choanal atresia that was repaired at day 30 of life. After completion of the mandibular distraction, the patient has avoided tracheostomy and is now 6 months of age. Recent polysomnogram has demonstrated no significant apnea or hypopnea.
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PMID:Curvilinear mandibular distraction in a patient with mandibulofacial dysostosis associated with Diamond-Blackfan anemia. 1981 70