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)

Sudden infant death syndrome (SIDS) is diagnosed by the absence of lethal autopsy findings, or in a resuscitatable, "near miss" form with cyanosis, apnea, and bradycardia. The event is unexpected, although a minor respiratory infection is common, and occurs during sleep, between 1 and 6 months of age. There is growing evidence that the victims have had previous hypoxic episodes. Although suffocation is no longer considered a tenable explanation, other forms of airway obstruction are still postulated by many; the evidence, however, favors hypoxia as the common feature. A lethal arrhythmia had been proposed by several groups, based on inappropriate reflex activity, "pathology" of the conduction system, and the long QT syndrome, but the evidence is against arrhythmia as the primary event in most cases of SIDS. Based on the reversible "near miss," apnea is likely as the primary event in SIDS. Several reflexes have the ability to produce apnea, in addition to the relatively common sleep apnea; the crucial aspect, rather, appears to be thefailure of the immature infant to resume respiration. The possibility exists that the infant, who did not have to breather for 9 months of fetal life, literally is not alarmed and aroused by the persistance of apnea. In human and animal studies, respiratory infections and sleep deprivation have been proved to increase the likelihood and duration of sleep apnea. If primary apnea continues for long (45 seconds or more), a dangerous positive feedback develops into hypoxic apnea. Hhis will persist until circulatory failure occurs, or until gasping occurs. The gasp is a highly effective mechanism at birth, but will occur too late for autoresuscitation after the anerobic capacity of fetal life dimineshes; we believe this capacity lasts for approximately 1 month, accounting for the hiatus of crib death, sparing the first month. The "near-miss" infant, after resuscitation, should be monitored at home, if practical, until 6 months of age. A simple cardiac monitor for bradycardia has definite advantage over an apnea monitor alone.
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PMID:Sudden infant death syndrome (crib death). 1 76

A three-year-old boy is reported with severe upper respiratory tract obstruction and sleep apnoea that was associated with reversible pulmonary hypertension and cardiac enlargement, and relieved by emergency tonsillectomy. The importance of intermittent cyanosis and difficulty in arousal during the day are stressed, together with the risk of death from anaesthesia in such patients without full pre-operative assessment. Despite this risk, and the current climate of increasing reluctance to subject children to tonsillectomy, the operation is absolutely essential and potentially lifesaving in certain children such as the boy described.
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PMID:Obstructive sleep apnoea causing severe pulmonary hypertension reversed by emergency tonsillectomy. 253 35

We investigated brainstem auditory evoked potentials (BAEP) in 20 infants at risk of SIDS (age 5 days to 4 months) and in 7 control infants (age 5 days to 4 months). 19 infants were diagnosed as having sleep apnea syndrome (SAS), which we consider to be a possible risk factor for SIDS. The diagnosis of SAS was made in general in the presence of clinical symptoms such as apneas, cyanosis during sleep, poorly coordinated sucking, swallowing and respiration and gastro-oesophageal reflux in combination with an abnormal pneumogramm in a one hour oxycardiorespirography. One infant had the history of a near miss event but a normal pneumogramm, 2 infants, both with SAS, were siblings of SIDS infants. We applied BAEP on 12 infants at risk of SIDS with and on 12 infants at risk of SIDS without aminophyllin treatment. 3 infants at risk of SIDS had two BAEP studies, one before and one during aminophyllin treatment. The time interval between these two studies was 1 week to 16 days. Aminophyllin, given only to infants with SAS was administered orally (therapeutic range 4-10 micrograms/ml). All infants at risk of SIDS and all control infants had normal I-V-IPL (below 2 x SD). There was a tendency to longer I-V IPL in infants at risk of SIDS. When infants at risk of SIDS with and without aminophyllin treatment were compared as a group the I-V-IPL was shorter in the infants with aminophyllin. BAEP can be useful in studying disturbances of the autonomic function of brainstem centers but do not allow the prediction of an individual SIDS risk.
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PMID:[Acoustically evoked brain stem potentials in infants at risk for SIDS with and without aminophylline therapy]. 279 43

Pneumograms of 33 fullterm infants (age 1-16 weeks) with idiopathic sleep apnea syndrome (SAS), treated with aminophyllin administered orally, were compared with pneumograms of 12 age-matched infants without aminophyllin treatment. In a one hour oxycardiorespirography (OCRG) all infants had pneumogram abnormalities defined as apneas greater than or equal to 15 s, greater than or equal to 3 apneas lasting 10 s, MA-value (mean duration of all apneas during sleep time) greater than or equal to 7 s/min, and greater than or equal to 3 episodes of periodic breathing. The diagnosis of an SAS, discussed as a possible risk factor of SIDS, was made in general in the presence of clinical symptoms such as apneas, cyanosis during sleep, poorly coordinated sucking, swallowing and respiration, and gastro-esophageal reflux (GER) in combination with an abnormal pneumogram. Of the 33 infants 12 with a history of an SIDS sibling were clinically asymptomatic. We found that after one week of aminophyllin treatment in 88% the pneumograms were normal. The mean plasma concentration of aminophyllin at this time was 8.3 micrograms/ml (range 4-19 micrograms/ml). All abnormalities showed a statistically significant reduction. In the infants without aminophyllin the pneumogram was still abnormal and no abnormality was significantly reduced. After at least 6 weeks we discontinued aminophyllin and one week later we monitored the OCRG. In 83% of the infants we found a normal pneumogram and compared to the initial pneumogram there was again a statistically significant difference.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[Effect of aminophylline therapy in mature infants with sleep apnea syndrome]. 321 Nov 67

Four infants with Down syndrome developed cor pulmonale and heart failure in association with chronic upper airway obstruction. Features of the sleep apnea syndrome were conspicuous; namely, noisy breathing with retraction, cyanosis and frequent apnea during sleep, and daytime lethargy and somnolence. The clinical picture masqueraded as cyanotic congenital heart disease. Arterial blood gas analyses revealed alveolar hypoventilation, especially during sleep. The nature of the obstructive element was variable. Adenoidectomy provided partial relief in one patient, and tonsillectomy and adenoidectomy resulted in temporary improvement in two others. Three patients were markedly benefitted by tracheostomy. Functional inspiratory pharyngeal closure was demonstrated fluorographically in one patient. Infants with Down syndrome may be predisposed to upper airway obstruction by virtue of hypoplasia of facial and oropharyngeal structures and generalized hypotonia. Additional obstructive elements may be contributed by hypertrophied lymphoid tissue, excessive secretions, and glossoptosis. Removal of the obstructive element is helpful, but functional obstruction may only be relieved by tracheostomy.
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PMID:Alveolar hypoventilation and cor pulmonale associated with chronic airway obstruction in infants with Down syndrome. 645 3

Infants with a higher incidence of frequent and prolonged apneas during sleep (sleep apnea syndrome) as a consequence of a delayed maturation of respiratory control, have an increased risk for respiratory problems after anesthesia. In 12 babies (one to five months old) showing visible apneas with cyanosis up to 12 hours after herniotomies, the respiratory pattern was examined by impedance pneumography during spontaneous sleep. The mean apnea duration (M.A. value) amounted to 8,6 +/- 5,96 sec/min, whereas the M.A. value of a comparable control group was significantly lower (2,97 +/- 2,13 sec/min) Aminophylline prophylaxis of risk infants diminished significantly the frequency of postoperative respiratory complications.
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PMID:[Early diagnosis of central respiratory disorders in infants to avoid postoperative complications]. 683 35

A 60-year-old obese woman was admitted for evaluation of excessive daytime sleepiness, loud snoring, cyanosis, systemic edema, hypertension and diabetes mellitus. Laboratory examination showed severe hypoxemia, hypercapnea, metabolic alkalosis, hypokalemia and hyperaldosteronism. CT scan showed a left adrenal tumor. A diagnosis of obstructive sleep apnea syndrome associated with primary aldosteronism was established. Metabolic alkalosis, hypokalemia and sodium retention due to hyperaldosteronism were thought to be factors exacerbating her sleep apnea.
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PMID:[A case report of obstructive sleep apnea syndrome associated with primary aldosteronism]. 818 53

A 49-year-old woman with 6 months history of body weight loss, muscle weakness, and dysarthria, was found with respiratory arrest and resuscitated in the morning of January 1999. An MRI brain scan revealed diffuse swelling and T2/FLAIR high signal intensity with mild Gadolinium enhancement in the lower pons and medulla oblongata. Although the histological diagnosis could not be obtained, glioma (astrocytoma) was suspected. In the morning of July 3rd she presented sweating and cyanosis. Her arterial oxygen saturation was 18%. When we asked her to breathe more, she kept breathing and oxygen saturation was normalized. However, she could not breathe at all when she fell asleep without stimulation. She was kept under respiratory support for 2 months. Her symptoms improved with fluctuating course after 70 Gy of radiation therapy. Ondine curse is one type of sleep apnea syndrome, defined as the selective disturbance of autonomous breathing. Surgical operation and stroke are the reported causes of this syndrome. Brainstem tumor is relatively common cause for children's Ondine curse. On the other hand, it rarely causes adult's Ondine curse as a main symptom.
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PMID:[A case of Ondine curse associated with a medullary tumor]. 1121 2

A 79-year-old woman with a 4-year history of Parkinson's disease was admitted due to unique dyspneic attacks with cyanosis while eating. Dyspneic attacks with cyanosis occurred mainly during actions such as taking meals or rehabilitation. Due to increased tonus of the orbicularis oris muscle, she was unable to open her mouth and breathe out, and finally experienced hypoxemia as revealed by pulse oxymetry. Dystonic hypertonus was relieved by touching the mandible with the fingers, and she was able to open her mouth again. These symptom was compatible with the sensory trick. Based on these findings, we considered that dyspneic attacks were produced by focal oromandibular dystonia. Polysomnography also showed central sleep apnea. We report herein a rare case of Parkinson's disease presenting with respiratory insufficiency caused by focal dystonia and central sleep apnea.
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PMID:[Case of Parkinson's disease presenting with unique dyspneic attacks caused by oromandibular dystonia and sleep apnea syndrome]. 1801 15

Prader-Willi syndrome (PWS) is a genetic disorder, characterized by shorter height, severe obesity and muscular hypotonicity. In particular, sleep disordered breathing (SDB) is a well-known complication in PWS. We encountered one case of PWS, complicated by typical obesity hypoventilation syndrome. A 23-year-old woman had been given a diagnosis of PWS as age 1, therefore she was treated with growth hormone replacement therapy, and with uvulopalatopharyngoplasty (UPPP) for her narrow throat. Her weight increased greatly to 96kg, body mass index (BMI) 51 kg/m2, resulting in hypersomnolence, cyanosis, heavy snoring, and nocturnal awakening. Eventually, she was admitted because of urinary incontinuence and loss of consciousness. On admission, she had severe hypoxia plus substantial hypercapnia, and her chest X-ray film showed severe cardiomegaly with massive pleural and pericardial effusion. On polysomnography (PSG) one week later, her apnea hypopnea index (AHI) was 16 with a mean nocturnal arterial saturation of 74%, mean percutaneous PCO2 59 Torr, which rose to 73 Torr during REM sleep. Non-invasive positive pressure ventilation (NPPV) was initiated, and improved her condition greatly. She was discharged, but continued to recieve NPPV, and her condition has stayed improved.
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PMID:[Prader-Willi syndrome associated with obesity hypoventilation syndrome]. 1893 20


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