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)

Knowledge of patients' opinions and beliefs about their illness is fundamental in interdisciplinary health care interventions. The IPQ and its revised version (IPQ-R) are questionnaires designed to assess components of the mental representation of illness described in Leventhal's self-regulation model. To validate the IPQ-R in the Italian population, verifying its psychometric properties and focusing on Part II of the instrument (opinions about disease), we enrolled 277 inpatients (216 males and 61 females) affected by myocardial infarction (n=70), coronary artery by-pass graft surgery (n=52), chronic heart failure (n=47), valve replacement (n=20), obstructive sleep apnoea syndrome associated to obesity (n=53) and respiratory failure (n=35). All patients completed the Italian version of the IPQ-R obtained by means of 3 translations and a back version. IPQ-R scores were compared to patients' scores on the SF-36 and AD schedule (on anxiety and depression). Structural validity and reliability (both internal and test-retest) of the Italian IPQ-R were assessed. The validity of Part II of the IPQ-R was confirmed. As in the original version, 7 factors were extracted. ANOVA revealed statistically significant differences between the different diseases. Correlations between IPQ-R and, respectively, the SF-36 and AD schedule were statistically significant and coherent with the constructs analyzed. Finally statistically significant correlations emerged between the IPQ-R factors. The test-retest reliability and internal consistency of the questionnaire were confirmed. The psychometric properties of the Italian version of the IPQ-R were demonstrated to be robust. Hence, the Italian version of the IPQ-R, which resulted homogeneous with the original version, could be useful in assessing the cognitive factors involved in patients' adjustment to various chronic illnesses.
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PMID:[Contribution to the Italian validation of the IPQ-R]. 1765 Jul 45

Arnold-Chiari malformation is an occipitocervical malformation where the cerebellar amygdales descend below the occipital foramen. Acute respiratory failure is an exceptional inaugural sign. We report two cases disclosed by alveolar hypoventilation associated with type I Arnold-Chiari malformation. The two patients age 51 and 52 years had an uneventful past history and presented with hypercapnic encephalopathy with acute respiratory failure requiring ventilatory assistance. Respiratory function tests, helicoidal thoracic computed tomographic angiography, electromyogram, cardiac echography, and thyroid and immunological tests were normal. Blood gases and polysomnography were in favor of central hypoventilation without sleep apnea. Magnetic resonance imaging demonstrated type I Arnold-Chiari malformation. The course was complicated by recurrent respiratory failure in both patients. Surgical decompression performed for the first patient provided no improvement. This patient died two months after surgery subsequent to aspiration pneumonia. The second patient was treated with continuous positive pressure noninvasive ventilatory assistance and had a good outcome at 25 months. These two cases illustrate the absence of any neurological sign, acute respiratory failure being the only sign of Arnold-Chiari malformation.
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PMID:[Acute respiratory failure as the sol inaugural sign of Arnold-Chiari malformation. Two cases]. 1816 35

Melnick-Needles syndrome is an X-inked-dominant skeletal dysplasia in which there is deficient osteoblastic activity. Patients present with craniofacial anomalies consisting of a prominent forehead, exorbitism, mandibular hypoplasia, cheek fullness, and class II malocclusion. Severe mandibular hypoplasia leads to upper airway restriction, an increased incidence of sleep apnea and pneumonias, and occasionally respiratory failure. This is a report of a patient with Melnick-Needles syndrome who presented to our unit after multiple bouts of respiratory failure and with a tracheostomy in whom mandibular distraction osteogenesis was used to retire her tracheostomy and to cure her sleep apnea. The patient underwent bilateral, external, unidirectional mandibular distraction with a vector parallel to the occlusal plane. After a latency period of 5 days, distraction was initiated at a rate of 1 mm/day for 34 days. At this point, the patient was able to breathe with the tracheostomy plugged, and her occlusion had changed from a class II to a class III relationship. She no longer snored, and pulse oximetry on room air was normal while standing or supine. Interestingly, the patient's consolidation phase was prolonged--255 days--possibly attributable to altered bony metabolism. To our knowledge, this is the first reported case of mandibular distraction osteogenesis used to cure obstructive sleep apnea and eliminate the need for tracheostomy in a patient with Melnick-Needles syndrome. In the future, prophylactic mandibular distraction may prevent the need for tracheostomy in this group of patients.
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PMID:Mandibular distraction osteogenesis in a patient with Melnick-Needles syndrome. 1821 1

Sleep apnoea and related sleep breathing disorders are a major cause of medical, social and occupational disability. Excessive sleepiness may be associated with respiratory failure, obesity, hypertension and insulin resistance in the cardiometabolic syndrome. This article reviews practical assessment and management.
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PMID:Sleep apnoea and sleep breathing disorders. 1951 7

Central sleep apnea (CSA) is characterized by the inability to generate regular breathing patterns as a result of the loss of metabolic drive and failure of respiratory muscle control. We present the case of a 54-year-old woman with a severe CSA strictly dependent upon REM-sleep. Extensive diagnostic workup excluded typical underlying causes and serological analysis revealed acute borreliosis infection. The severity of sleep apnea decreased after repeated polysomnographic studies without a specific therapy. CSA is usually associated with non-REM stages of slow-wave-sleep. This report illustrates the clinical presentation and diagnostic implications of an unusual case of a CSA strictly associated with REM-sleep. Anecdotally reports of severe respiratory failure in borreliosis indicate the potential of this infection to destabilize breathing control but the precise impact of the infection remains controversial. In our case, a relevant neuroborreliosis was not proven, since there were no other neurologic impairments and the patient refused studies of liquor fluid.
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PMID:A case of central sleep apnea strictly dependent upon REM-sleep. 1975 21

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

Chronic obstructive pulmonary disease (COPD) and the obstructive sleep apnoea-hypopnoea syndrome (OSAHS) are both common diseases affecting respectively 10 and 5% of the adult population over 40 years of age. Their coexistence, which is denominated "Overlap Syndrome", can be expected to occur in about 0.5% of this population. Two recent epidemiologic studies have shown that the prevalence of OSAHS is not higher in COPD than in the general population, and that the coexistence of the two conditions is due to chance and not through a pathophysiological linkage. Patients with "overlap" have a higher risk of sleep-related O(2) desaturation than do patients with COPD alone and the same degree of bronchial obstruction. They have an increased risk of developing hypercapnic respiratory failure and pulmonary hypertension when compared with patients with OSAHS alone and with patients with "usual" COPD. In patients with overlap, hypoxaemia, hypercapnia, and pulmonary hypertension can be observed in the presence of mild to moderate bronchial obstruction, which is different from "usual" COPD. Treatment of the overlap syndrome consists of nasal continuous positive airway pressure or nocturnal non-invasive ventilation (NIV), with or without nocturnal O(2). Patients who are markedly hypoxaemic during the daytime (PaO(2)<55-60 mmHg) should be given conventional long-term O(2) therapy in addition to nocturnal ventilation.
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PMID:[The Overlap Syndrome: association of COPD and Obstructive Sleep Apnoea]. 2040 43

We reviewed the clinical characteristics, required intervention and short- and long-term outcomes in obstructive sleep apnoea (OSA) patients requiring intensive care. A retrospective, single-centre, observational cohort study was undertaken in a multidisciplinary teaching medical and surgical intensive care unit. Adult patients with OSA (apnoea-hypopnoea index of 5 or higher) requiring intensive care from January 2000 to January 2005 were included. Thirty-seven OSA patients (age: 58 +/- 14 years, male:female 27:10) were admitted due to respiratory (n=12, 32%), cerebrovascular (n=8, 22%), cardiovascular (n=16, 43%) and infectious events (n=1, 2.7%). Comparing the clinical features, polysomnographic data and outcome among these groups, we found that OSA patients admitted due to respiratory events had significantly higher Acute Physiology and Chronic Health Evaluation II scores, lower arterial blood gas pH, higher PaCO2, a higher incidence of respiratory failure (92%) and required non-invasive ventilation after extubation (73%), and higher intensive care unit readmission rates than patients admitted due to cerebrovascular events and cardiovascular events (P < 0.05). No difference was found in the in-hospital and long-term mortality rate. The most common reason for intensive care unit admission in critically ill OSA patients was a cardiovascular event, followed by respiratory and cerebrovascular events. The baseline polysomnographic data of the OSA patients were not correlated with their clinical features and outcomes in the intensive care unit. A more complicated clinical course and higher intensive care unit readmission rate were encountered in OSA patients admitted due to respiratory events. Further studies would be required to evaluate the efficacy of non-invasive ventilation for facilitation of extubation in OSA patients presenting with hypercapnic respiratory failure.
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PMID:Clinical characteristics and outcomes of patients with obstructive sleep apnoea requiring intensive care. 2051 60

Daytime hypercapnia that develops in morbidly obese individuals in the absence of concurrent lung or neuromuscular disease is referred to as the obesity hypoventilation syndrome (OHS). The characteristic polysomnographic (PSG) abnormality is marked sleep hypoxemia. Although the likelihood of hypoventilation increases with increasing body mass index (BMI), it is too simplistic to think of this disorder arising merely from chest wall restriction due to excess weight. Rather, this is a disorder which emerges when the compensatory mechanisms that normally operate to maintain ventilation appropriate for the level of obesity are impaired. OHS develops from a complex interaction between abnormal respiratory function, sleep disordered breathing and diminished respiratory drive. Irrespective of the mechanisms underlying the development of this disorder, early recognition of the problem and institution of effective therapy is important to reduce the significant clinical and societal repercussions of OHS. While therapy directed at improving sleep disordered breathing is effective in reversing daytime respiratory failure, it is not universally successful and information regarding longer term clinical outcomes is limited. Attention to weight reduction strategies are also necessary to reduce comorbid conditions and improve quality of life, but data regarding how successful and sustained this is in obesity hypoventilation are sparse.
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PMID:Obesity hypoventilation syndrome--the big and the breathless. 2129 2

We report on a patient with mental retardation and chronic hypercapnic respiratory failure who was found to have severe central apnea and periodic breathing while undergoing an evaluation of low oxygen saturation during wakefulness at rest. Magnetic resonance imaging of the brain, which was performed to uncover potential causes for the central sleep apnea, revealed a "molar tooth sign" consistent with the diagnosis of Joubert syndrome. Joubert syndrome-related disorders are autosomal-recessive disorders characterized by diffuse hypotonia, developmental delay, abnormal respiratory patterns, and the pathognomonic neuroradiologic finding of a molar tooth sign. Adaptive servoventilation failed to correct the central apneas or the periodic breathing. Treatment with bilevel positive airway pressure in S/T mode led to resolution of the central events, improvement in sleep quality, and normalization of the oxygen saturation during wakefulness.
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PMID:Joubert syndrome associated with severe central sleep apnea. 2072 89


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