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)

Several studies have been reported suggesting a relationship between pharyngeal obstruction due to ENT pathology and the sleep apnea syndrome (SAS). To determine the incidence of pathological ENT findings that may present symptoms similar to SAS, we performed ENT examination, fiberoptic nasopharyngoscopy, rhinomanometry and partial audiometry and electronystagmography in 431 patients who had undergone polysomnography for clinically suspected SAS. 336 patients were referred for ENT examination; 95 patients had some kind of ENT disease and therapy before polysomnography. In the first group 31% showed one or more pathological ENT finding (ears 9%, nasopharynx 2%, nose 19%, oropharynx 5%, larynx 5%, neck 1%); 10.5% had pathology in two regions and 0.7% in three regions. An ENT operation was indicated in 23%, usually for nasal obstruction. ENT findings included chronic otitis media, adenoids, enlargement of lingual tonsil and vocal cord pathology, but no patient had a malignant tumor or severe pharyngeal obstruction. We conclude that severe anatomical abnormalities or dysplastic syndromes are rare; only 2 SAS patients had acromegaly due to hypophyseal adenoma and 1 patient without SAS had craniofacial dysplasia. However, ENT examination frequently revealed severe nasal obstruction due to septal deviation, polyposis or adenoids. These findings emphasize the need for ENT examination and therapy before application of CPAP (continuous positive air pressure) therapy.
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PMID:[How frequent are pathologic ENT findings in patients with obstructive sleep apnea syndrome?]. 260 43

Respiratory disorders that occur in children asleep are frequent. They are evaluated by studying the respiratory function at each stage of sleep, as determined by neurophysiological criteria, and they must be interpreted on the basis of what is known of respiratory adaptation during sleep in healthy infants. Respiratory disorders during sleep may be due to: (1) obstructive sleep apnoea syndrome caused by an obstruction of the upper airways, most frequently by enlarged tonsils; (2) nocturnal episodes of acute on chronic obstructive lung disease, such as cystic fibrosis, sequelae of viral infection, ciliary dysfunction, broncho-pulmonary dysplasia; (3) nocturnal asthma; (4) alveolar hypoventilation of central origin. The short-or long-term risk of respiratory disorders during sleep is their repercussions on pulmonary circulation and right heart function.
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PMID:[Respiratory disorders during sleep in children]. 291 64

Fibrous dysplasia and Ollier's disease (skeletal chondromatosis) are bone lesions that result from disorders occurring during ossification. Here we report on a patient suffering from Ollier's disease in whom polyostotic fibrous dysplasia was detected. The main problem for this 20-year-old man was a nasoethmoidorbital cartilaginous mass causing nasal obstruction, nonreducible eye proptosis, and sleep apnea. The lesion was approached by means of a combined route, ie, transfrontally and transfacially (nasal-cheek flap). The possible pathogenetic links existing between the two lesions and the problems involved in surgical treatment are discussed.
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PMID:Craniofacial fibrous dysplasia and Ollier's disease: combined transfrontal and transfacial resection using the nasal-cheek flap. 894 42

A non-surgical technique for the treatment of upper airway obstruction in oculoauriculovertebral dysplasia using an intra-oral orthopaedic appliance is described, which resulted in respiratory and feeding problems being solved without side-effects. This non-invasive management might also be of major benefit in the treatment of airway obstruction associated with Pierre Robin sequence, mandibular micrognathia in other craniofacial anomalies, or obstructive sleep apnoea.
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PMID:Non-surgical treatment of upper airway obstruction in oculoauriculovertebral dysplasia: a case report. 963 64

Among 27,000 infants studied prospectively to characterize their sleep-wake behavior, 38 infants died under 6 months of age; 27 infants died from sudden infant death syndrome (SIDS), 5 from congenital cardiac abnormalities, 2 from infected pulmonary dysplasia, 2 from septic shock with multi-organ failure, 1 with a prolonged seizure, and another with prolonged neonatal hypoxemia. The frequency and duration of sleep apneas recorded some 3-12 weeks prior to the infants' death were analyzed. Brainstem material was retrospectively collected from these 33 infants and studied in an attempt to elucidate the relationship between sleep apnea and hypoxic gliosis. The findings were compared between the SIDS victims and the control infants. Brainstem materials were immunohistochemically studied for quantitization of reactive astrocytes using an anti-glial fibrillary acidic protein (GFAP) antibody. The pathological materials were collected within 24h of death. This study focuses on the association between respiratory characteristics and pathology. Physiological and pathological data in the arousal pathway of the brainstem were linked for each infant and variant-covariant analyses were carried out using physiological data as dependent variables and pathological data and categorical data to evaluate the association with SIDS or non-SIDS as independent variables. The study failed to statistically support an association between hypoxic loads, reflected by the GFAP-positive reactive astrocytes in brainstems, the classification of being SIDS or non-SIDS infants, and the characteristics of sleep apnea.
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PMID:Association between sleep apnea and reactive astrocytes in brainstems of victims of SIDS and in control infants. 1235 Feb 98

Among 27,000 infants studied prospectively to characterize their sleep-wake behavior, 38 infants died under 6 months of age (including 26 infant victims of sudden infant death syndrome (SIDS), 5 with congenital cardiac abnormalities, 2 from infected pulmonary dysplasia, 2 from septic shock with multi-organ failure, 1 with a prolonged seizure, 1 from prolonged neonatal hypoxemia, 1 from meningitis and brain infarction). The frequency and duration of sleep apneas recorded some 3-12 weeks before the infants' death were analyzed. Brainstem material from these 38 infants was studied in an attempt to elucidate the relationship between sleep apnea and neuronal pathological changes in the arousal pathway. Immunohistochemical analyses included the evaluation of growth-associated phosphoprotein 43 (GAP43) as a marker for synaptic plasticity. The terminal-deoxynucleotidyl transferase-mediated dUTP nick end labeling (TUNEL) method was used to identify apoptosis. The positive pathological reactions were quantitatively analyzed. The pathological and physiological data were linked for each infant. Akaike Information Criterion (AIC) statistics was calculated to elucidate the relationship between the physiological and the pathological data in the SIDS victims. The findings illustrated the possibility of an organic fragility within the arousal pathway, particularly in the midbrain periaqueductal gray matter, which is associated with the "visceral alerting response". This autonomic response occurs within an acetylcholine afferent system and pedunculopontine tegmental nucleus (PPTN). The finding is, in future SIDS infants, associated with repetitive sleep apnea.
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PMID:From physiology to pathology: arousal deficiency theory in sudden infant death syndrome (SIDS)--with reference to apoptosis and neuronal plasticity. 1235 Feb 99

Among 27,000 infants studied prospectively to characterize their sleep-wake behavior, 38 infants died suddenly and unexpectedly under 6 months of age. Of these, 26 died from sudden infant death syndrome (SIDS), 5 from congenital cardiac abnormalities, 2 from infected pulmonary dysplasia, 2 from septic shock with multi-organ failure, 1 from a prolonged seizure, 1 from prolonged neonatal hypoxemia, and 1 from meningitis and brain infarction. The frequency and duration of apneas recorded some 3-12 weeks prior to the infants' death were analyzed. The brainstem materials were collected and studied in an attempt to elucidate the relationship between sleep apnea, and prone sleep position and gliosis in some nuclei associated with cardiorespiratory characteristics, such as nucleus ambiguus in the medulla oblongata and the solitary nucleus, as well as structures associated with arousal phenomenon, such as the reticular formation, the superior central nucleus and the nucleus raphe magnus in the pons, the dorsal raphe nuclei in the midbrain and medulla oblongata, periaqueductal gray matter in midbrain, and locus ceruleus. Gliosis was estimated as the density of glial fibrillary acidic protein (GFAP)-positive reactive astrocytes. Variant-covariant analyses were carried out using the characteristics of apnea as an independent variable and sleep position and gliosis as dependent variables. A significant association was found only in the frequency of obstructive apnea and prone position (P<0.001) and gliosis in the raphe nuclei in the midbrain (P<0.001). Although prone position is a well-known risk factor for SIDS, the frequency of obstructive apnea has not been associated with the prone sleep position. The observed relation between prone sleep and the density of gliosis does not relate to epidemiological findings. Further studies are needed to investigate the unexpected statistical association.
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PMID:Interaction between apnea, prone sleep position and gliosis in the brainstems of victims of SIDS. 1235 Mar

A six-year-old girl with a rare bone dysplasia (Melnick-Needles Syndrome) presented with a five month history of severe sleep apnoea, weight loss and failure of thrive. The syndrome is associated with craniofacial abnormalities, including micrognathia. Following a multi-disciplinary assessment an elective tracheostomy was considered the most appropriate treatment. The patient developed severe respiratory distress 10 days prior to the arranged date of surgery and required an emergency tracheostomy. This resulted in a dramatic return to health. The recognition of severe sleep apnoea in patients with craniofacial abnormalities and the role of initial tracheostomy are discussed.
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PMID:Emergency tracheostomy in a patient with Melnick-Needles syndrome and sleep apnoea. 1512 92

We report a rare case of acromesomelic dysplasia with bilateral bronchiectasis and obstructive sleep apnoea. Diagnosis of acromesomelic dysplasia was based on radiographs of whole skeleton.
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PMID:Acromesomelic dysplasia with bronchiectasis. 1583 60

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


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