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

Adenosine 3',5'-monophosphate (cyclic AMP), 5-hydroxyindoleacetic acid (5-HIAA) and homovanillic acid (HVA) were determined in the cerebrospinal fluid of patients with respiratory disorder and hypersomnia and in control patients. Patients with the sleep apnoea syndrome confirmed polygraphically showed elevated levels of cyclic AMP and 5-HIAA. Cyclic AMP levels were inversely correlated with arterial Po(2), measured under resting conditions. The level of HVA also was raised, but the change was not statistically significant.
 ...
PMID:Cerebrospinal fluid adenosine 3',5'-monophosphate, 5-hydroxyindoleacetic acid and homovanillic acid in patients with sleep apnoea syndrome. 617

The aim of this study was to determine the severity of side effects and the influence on snoring and the AHI (apnoea-hypopnoea index = number of apnoeas and hypopnoeas per hour recording) of an anterior mandibular positioning device (AMP device) for treatment of snoring and obstructive sleep apnoea. Questionnaires were mailed to a consecutive series of 30 patients who had started treatment with an AMP device. The mean follow-up interval from receiving an AMP device to answering the questionnaire was 22 months. The perceived degree of sore teeth increased statistically significantly (p < 0.01) as a result of the AMP device treatment, but there was no increase in the degree of facial pain, salivation, or temporomandibular joint pain. The AMP device treatment resulted in a statistically significant reduction (p < 0.01) of the mean AHI and of the mean percentage of the recording time with loud snoring (p < 0.05). Twenty-two patients out of 30 were still using the device at the time of follow-up. In conclusion, AMP device treatment was associated with only mild side effects and resulted in a statistically significant reduction of the AHI and of the percentage of the recording time with loud snoring.
 ...
PMID:Anterior mandibular positioning device for treatment of snoring and obstructive sleep apnoea. 1457 58

The Rubinstein-Taybi syndrome (RTS) is a rare but well-defined condition characterized by growth and mental retardation, broad thumb-hallux, and distinctive facial features. Ten unrelated Taiwanese children (6 boys and 4 girls) with clinical features suggestive of RTS were evaluated. The associated anomalies included cryptochidism (6/6 males), microcephaly (9/10), congenital heart diseases (8/10), pectus excavatum (5/10), low IGF-I level (4/10), strabismus/nystagmus (4/10), epilepsy (3/10), glaucoma (2/10), cleft palate (2/10), web neck (2/10), limb hypoplasia (2/10), sleep apnea (1/10), and vesico-ureteral reflux (1/10). All of them had normal thyroid function. High-resolution chromosome studies by both G- and R-banding were applied to detect any microscopic chromosomal deletion, particularly over the 16p13 region (responsible for RTS locus). A panel of five cosmids spanning the human cyclic AMP-responsive element binding (CREB) binding protein (CREBBP or CBP) gene in terms of RT100, RT102, RT191, RT203 and RT166 (Leiden, the Netherlands) were used for fluorescence in situ hybridization on the metaphases of those patients. Three cases showed whole or partial deletion of one copy of the CBP gene. Thus, the rate for detecting interstitial submicroscopic deletion of this region by FISH was about 30% in these RTS patients. The disease severity seemed to be correlated with size of the deletion.
 ...
PMID:Rubinstein-Taybi syndrome: clinical and molecular cytogenetic studies. 1623 61