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)

Myotonic dystrophy is a genetic disorder inherited as an autosomal dominant trait. It is known to be associated with endocrine dysfunction, polar cataracts, cardiac abnormalities and other conditions. Respiratory distress constituents the principal problem in myotonic dystrophy. The author investigated postural change of respiratory function in 12 patients with myotonic dystrophy (MYD), and 7 patients with limb-girdle dystrophy (LG) and overnight polysomnography was performed on 10 patients with MYD and 5 patients with LG. The respiratory function in seated posture showed no significant difference between LG and MYD, but in patients with MYD, the vital capacity and the expiratory reserve volume in a supine posture was reduced in comparison to that during seated posture. However, the respiratory function in patients with LG was not significantly different in seated and supine postures. Also, in patients with MYD, there was a significant decrease in arterial PO2 from the seated posture to the supine posture, without a significant change in the arterial PCO2. However, in patients with LG, there was no significant change in arterial blood gas analysis parameters. It was speculated that these findings concerning respiratory function and blood gas analysis in patients with MYD were caused by the involvement of the diaphragm. In the supine posture, the diaphragm shifted to the cranial position because of the abdominal contents rising into thorax, therefore the lung volume was reduced and the ventilation-perfusion ratio deteriorated. The changes of respiratory function parameters and PaO2 were partly responsible for the hypoxemia observed during sleep in patients with MYD. Overnight polysomnography showed that 9 of the 10 patients with MYD and 1 of the 5 patients with LG presented apneas during sleep, particularly during REM, stage 1 and stage 2. Almost all apneas were central type, with a low percentage of obstructive apneas and the apnea index was 19.0/h (mean) in MYD, 6.5/h in one case of LG. These result strongly suggest that sleep apnea is of central origin, but the distinction between a central and an obstructive etiology is difficult in neuromuscular disease and particularly when a disorder of central ventilatory responsiveness is suspected. The respiratory function of MYD and LG in seated and supine postures was studied and overnight polysomnography performed. It was emphasized that it was important for the respiratory care of neuromuscular disease to consider the influence of postural changes in the respiratory function. The present series of studies revealed central sleep apnea in the patients with myotonic dystrophy.(ABSTRACT TRUNCATED AT 400 WORDS)
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PMID:[Respiratory pathophysiology during sleep in patients with myotonic dystrophy]. 223 81

Treacher Collins syndrome is a form of mandibulofacial dysostosis characterized by deafness, hypoplasia of facial bones (mandible, maxilla and cheek bone), antimongoloid slant of palpebral fissures, coloboma of the lower lid and bilateral anomalies of auricle. The condition may be associated with other malformations (cardiovascular system). The major problem in anesthesia lies on the maintenance of a free airway and intubation. During postoperative period, pharyngeal and laryngeal edema may develop even after pharyngoplasty. Cases of sleep apnea, respiratory distress and even sudden death have been reported.
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PMID:[Anesthesia in a patient with Treacher-Collins syndrome]. 233 14

Polygraphic recordings were made on 10 preterm infants recovering from respiratory distress syndrome and 12 healthy preterm control infants at 40, 52, and 64 weeks' conceptual age to study the influence of respiratory distress syndrome on the development of the sleep apnoea profile. Two significant differences were found: infants with respiratory distress syndrome not only had a lower incidence of non-obstructive apnoea and periodic breathing at 40 weeks but also a persistently higher incidence of obstructive and mixed apnoea at 52 and 64 weeks' conceptual age; the latter finding being related to non-rapid eye movement sleep only. While the lower incidence of both types of apnoea at 40 weeks suggests an advanced maturation of respiratory drive, the persistence of obstructive and mixed apnoea related to non-rapid eye movement sleep may reflect the impact of respiratory distress syndrome on airway structures.
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PMID:Sleep apnoea profile in preterm infants recovering from respiratory distress syndrome. 401 70

The objective of the study was to evaluate the relation between every-night (habitual) snoring, sleep apnoea and cognitive complaints (concentration and memory complaints) in an adult population-based sample. In the DAN-MONICA (MONItoring trends in CArdiovascular iseases) 1504 males and females aged 30, 40, 50 and 60 years were classified according to their snoring habits. Nocturnal respiration was measured in 748 participants. The following measures were regarded as potential confounders: age, gender, unintended sleepiness, insomnia, depression, hypnotic use, alcohol consumption by questionnaire, body mass index (BMI) and blood pressure. Concentration and memory problems were both related to depression, insomnia and unintended sleepiness. Snoring and sleep apnoea (defined as a respiratory distress index-RDI > or = 5) were associated with concentration problems and unintended sleepiness. The odds ratios (95% confidence intervals) between snoring, concentration and memory problems, calculated by logistic regression analysis after adjustments for the above confounders, were 1.90 (1.23-2.91, p < 0.01) and 1.38 (0.97-1.99, NS). For those with sleep apnoea, the odds ratios were 3.53 (1.42-8.73. p < 0.001) and 1.51 (0.81-2.14, NS) for concentration and memory problems, respectively. The main conclusion drawn from this study is that cognitive complaints show a high correlation to mood, insomnia and hypersomnia. Habitual snoring and sleep apnoea show a correlation to concentration problems, but not to memory problems. This suggests that part of the association between snoring, sleep apnoea and cognitive dysfunction is related to the presence of sleep disturbances and daytime sleepiness.
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PMID:[Cognitive symptoms in persons with snoring and sleep apnea. An epidemiologic study of 1.504 women and men aged 30-60 years. The Dan-MONICA II study]. 860 12

The objective of the study was to evaluate the relation between every-night (habitual) snoring, sleep apnea and cognitive complaints (concentration and memory problems) in an adult population-based sample. In the Dan-MONICA (MONItoring trends in CArdiovascular diseases) 1,504 males and females aged 30, 40, 50 and 60 years were classified according to their snoring habits. Nocturnal respiration was measured in 748 participants. The following measures were regarded as potential confounders: age, gender, unintended sleepiness, insomnia, depression, hypnotic use, alcohol and tobacco consumption by questionnaire, body mass index (BMI) and blood pressure. Concentration and memory problems were both related to depression, insomnia and unintended sleepiness. Snoring and sleep apnea (defined as a respiratory distress index - RDI > or = 5), were associated with concentration problems and unintended sleepiness. The odds ratios (95% confidence intervals) between snoring, concentration and memory problems, calculated by logistic regression analysis after adjustments of the above confounders, were 1.90 (1.23-2.91, p < 0.01) and 1.38 (0.97-1.99, NS). For those with sleep apnea, the odds ratios were 3.53 (1.42-8.73, p < 0.001) and 1.51 (0.81-2.14, NS) for concentration and memory problems, respectively. The main conclusion drawn from this study is that cognitive complaints show a high correlation to mood, insomnia, and hypersomnia. Habitual snoring and sleep apnea show a correlation to concentration problems, but not to memory complaints. This suggests that part of the association between snoring, sleep apnea and cognitive dysfunction is related to the presence of sleep disturbances and daytime sleepiness.
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PMID:Self-assessed cognitive function in snorers and sleep apneics. An epidemiological study of 1,504 females and males aged 30-60 years: the Dan-MONICA II Study. 808 78

We have analysed the clinical manifestations of nine patients with brief upper airway dysfunction (BUAD) who attended the thoracic department of a major teaching hospital between 1987 and 1991. Episodes of BUAD developed within 1-4 months of presentation in three patients but were undiagnosed for 2.5-12.5 years in six. The mean age at onset was 51 years ranging from 37 to 66 years. The episodes occurred at irregular intervals. They lasted approximately 1-5 min, were frightening and consisted of an initial phase of obstructive apneoa lasting a few seconds to 2 min and a second phase of respiratory distress with inspiratory stridor lasting 1-4 min. Daytime episodes occurred in all and at night in five, waking three of the patients from sleep. In most instances, throat irritability triggered the episodes which were often preceded by cough. Potential causes of throat irritability included respiratory tract infection, allergy, oesophageal reflux and obstructive sleep apnoea. After treatment of throat irritability BUAD has ceased for at least a year in six of the eight with adequate follow-up. In conclusion, BUAD has characteristics clinical features which should enable it to be recognized more frequently, ensuring successful management.
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PMID:Brief upper airway dysfunction. 814 10

Sleep-related breathing disorders (SRBD) include several disorders gradually developing from simple and loud snoring through upper airway resistance syndrome and sleep apnoea up to the Pickwickian syndrome. They are manifestant as a respiratory distress and apnoeic episodes, desaturation of oxygen in the blood and interruption of sleep. These symptoms are demonstrated in a case of a patient with the Pickwickian syndrome. SRBD may result in severe secondary life-threatening cardiovascular complications (nocturnal arrhythmias, sudden cardiac death, stroke and pulmonary oedema). They may contribute also to the development of important disorders of public health such as hypertension, obesity, and traffic accidents resulting from hypersomnolence and fatigue. (Tab. 1, Fig. 3, Ref. 46.)
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PMID:[Sleep-related breathing disorders--an interdisciplinary topic in undergraduate and postgraduate medical education]. 926 12

Approximately 40 million Americans have chronic sleep disorders, the most serious of which is obstructive sleep apnea. The goals of this research were to serve as a demonstration project for a multicenter treatment outcomes research project for patients with obstructive sleep apnea. A clinical-severity staging system was created to control for important differences in the severity of sleep apnea among the enrolled patients. A disease-specific quality-of-life measure was used in this project to measure, from the patient's perspective, important pretreatment and posttreatment physical, functional, and emotional aspects of obstructive sleep apnea. Adults with apnea indexes greater than 5 who had not previously undergone uvulopalatoplasty were eligible. In total 142 patients were enrolled from eight otolaryngology practices. The mean age was 48 years, 112 were men, and 114 were white. The mean pretreatment apnea index was 40.0, and the mean respiratory distress index was 60.5. Seventy-one patients received continuous positive airway pressure, and 48 patients received surgery. Outcomes were assessed from scores on patient-based general and disease-specific health status measures 4 months after enrollment. The short duration of follow-up and limited number of patients undergoing posttreatment polysomnograms prohibit any analysis of treatment effectiveness. Nevertheless, this research represents a step forward for the support of future outcomes research projects by organized otolaryngology.
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PMID:Obstructive sleep apnea treatment outcomes pilot study. 962 45

A 42-yr-old male with Hunter's syndrome presented with severe obstructive sleep apnoea syndrome (OSAS) and daytime respiratory failure. Continuous positive airway pressure (CPAP) therapy was initially ineffective and produced acute respiratory distress. Extensive Hunter's disease infiltration of the upper airway with a myxoma was confirmed. Following surgery to remove the myxoma at the level of the vocal cords, CPAP therapy was highly effective and well tolerated. This report demonstrates the necessity of evaluating fully the upper airway in patients with unusual variants of OSAS, particularly where the disease is not adequately controlled by CPAP.
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PMID:Hunter's syndrome and associated sleep apnoea cured by CPAP and surgery. 1041 26

Several epidemiological studies have estimated the prevalence of obstructive sleep apnoea syndrome (OSAS). As many of those suffering from sleep apnoea may be asymptomatic, the occurrence of sleep apnoea may be underestimated. The epidemiology of self-reported snoring, sleep apnoea and OSAS, and their relationships with various symptoms, were evaluated in 1504 randomly selected males and females, aged 30, 40, 50 and 60 years. Nocturnal respiration was determined in 748 participants using inductive plethysmography. Habitual snoring was reported by 19.1% (9.2-24.2%, age 30-60 years) of the males and 7.9% (3.8-11.7%, age 30-60 years) of the females. Respiratory Distress Index (RDI) was calculated as the number of apnoeas and hypopnoeas per hour lasting longer than 10 s. RDI >/= 5 per hour was found in 10.9% (7.1-18.3%, age 30-60 years) of the males and in 6.3% (5.3-7.6%, age 30-60 years) of the females. Hypersomnia increased with the severity of sleep apnoea (P < 0.005) and was reported by 15.9% of those with RDI >/= 5. The prevalence of OSAS (hypersomnia and RDI >/= 5) was 0.9% in the females, 1.9% in the males, and in total 1.4% of all aged 30-60 years. The sensitivity was 70.8% and the specificity was 47.7% for self-reported snoring predicting RDI >/= 5. The following factors were associated with RDI >/= 5: age (P < 0.05), gender (P < 0.0001), BMI (P < 0.0001), tobacco (P < 0.02) and alcohol (P < 0.05) consumption. Snoring correlated with age (P < 0.02), gender (P < 0.001), BMI (P < 0.0001) and alcohol consumption (P < 0.05). We conclude that sleep apnoea is common and many of those with sleep apnoea are asymptomatic. Self-reported hypersomnia and snoring are not sensitive enough alone to identify those with sleep apnoea. Sufficient control of the questionnaire is thus essential in studies on snoring and the risk of cardiovascular diseases.
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PMID:Epidemiology of snoring and obstructive sleep apnoea in a Danish population, age 30-60. 1060 57


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