Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UNIPROT:Q86TM3 (cage)
 29,987 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We studied prospectively 26 young patients with achondroplasia to test two hypotheses: that respiratory problems may be the result of occult spinal cord compression, and that achondroplastic patients with cord compression might have occult respiratory abnormalities. Respiratory abnormalities were present in 85%, the majority caused by a primary problem of the pulmonary system, such as small thoracic cage or obstructed airway. Three patients had hypoxemia, recurrent cyanotic spells, and episodes of respiratory distress explainable only by cervicomedullary cord compression; in each patient, respiratory problems were alleviated by decompressive surgery. Another six patients with cervicomedullary compression had, in addition, at least one primary pulmonary cause of respiratory problems. After decompressive surgery the respiratory problems improved in three and were unchanged in three. Reconstructed sagittal CT images proved the most sensitive technique for detecting craniocervical stenosis as a cause of cervicomedullary cord compression, although some degree of stenosis was present in nearly all of the patients.
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PMID:Cervicomedullary compression in young patients with achondroplasia: value of comprehensive neurologic and respiratory evaluation. 355 99

Many of the neuromuscular and thoracic cage disorders are associated with disorders of breathing during sleep. The abnormal mechanics of the chest wall impairs respiratory muscle function and this is compounded if there is underlying muscle weakness. Respiratory abnormalities appear during REM sleep before NREM or wakefulness. Central sleep apnoeas are characteristic, but obstructive apnoeas are also occur because of loss of tone in the upper airway dilator muscles. Arousals from sleep return the blood gases towards normal, but cause fragmentation of sleep, leading to daytime sleepiness. Ventilatory failure occurs particularly if the vital capacity is less than 1.0-1.5 litres or if the maximal inspiratory mouth pressure is less than 20-25cmH2O. Non invasive ventilation effectively prevents both central and obstructive apnoeas and improves the sleep architecture and daytime blood gases.
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PMID:Respiration during sleep in neuromuscular and thoracic cage disorders. 1536 36