Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts: Gene/Protein Disease Symptom Drug Enzyme Compound   Target Concepts: 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)

Some patients with obstructive sleep apnoea syndrome (OSAS; respiratory distress index (RDI) of >5 events.h(-1)) experience residual excessive daytime subjective sleepiness (Epworth Sleepiness Scale (ESS) score of >10), despite adequate use of continuous positive airway pressure (CPAP) therapy. The aim of the present study was to identify clinical and polysomnographic predictors of this sleepiness. Clinical and polysomnographic variables and ESS score were evaluated in 208 OSAS patients with an ESS score of >10 before (initial assessment) and after > or =6 months of adequate (> or =4 h.day(-1)) CPAP use. Following CPAP treatment, 114 (55%) patients showed an abnormal ESS score (>10; CPAP nonresponders), whereas 94 (45%) showed a normal ESS score (<11; CPAP responders). Of the CPAP responders, none had a history of depression, whereas the converse was true for 38.8% of CPAP nonresponders. In addition, multivariate logistic regression analysis revealed that the independent predictors of residual excessive daytime sleepiness following CPAP therapy were a history of diabetes and heart disease, and a higher ESS score and lower RDI on initial assessment. In conclusion, predictors of residual excessive sleepiness in adequately CPAP-treated OSAS were a history of depression, diabetes and heart disease, and a higher ESS score and lower RDI on initial assessment.
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PMID:Predictors of residual sleepiness in adequately treated obstructive sleep apnoea patients. 1935 51

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

We present a direct anterior sternal split expansion as a surgical option for a case of severe Thoracic Insufficiency Syndrome (TIS) in an arthrogryposis-like patient. This patient's clinical features were published as a newly described syndrome: Adam Robert Wright Syndrome. The patient born with this syndrome displays characteristic craniofacial abnormalities, severe thoracic insufficiency syndrome, cleft palate, limb contractures, arthrogryposis, pulmonary hypoplasia, cryptorchidism, ophthalmoplegia and retinopathy, with normal intelligence. His severe thoracic insufficiency necessitated an urgent life-saving surgical intervention for a progressively worsening sleep apnoea and respiratory distress. We present a review of published data of sternal expansion thoracoplasty from 1965 to 2007 found in the literature. We demonstrate that direct anterior sternal split thoracoplasty with autogenous rib grafts is an effective technique for the acute management of thoracic insufficiency syndrome in this specific case. This procedure provided our patient with symptomatic benefit. To our knowledge, this is the only reported surgical management of thoracic insufficiency syndrome demonstrating a statistical improvement in chest wall compliance and tidal volume. We show that direct anterior sternal split expansion is a surgical treatment option in some patients with thoracic insufficiency syndrome. Our surgical strategy for the management of severe thoracic insufficiency syndrome in Adam Robert Wright Syndrome provided symptomatic relief and favourable long-term results.
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PMID:Autogenous bone graft for expansion thoracoplasty in Adam Robert Wright syndrome: a case report and review. 2042 50

Sleep apnoea is a common disorder presenting with somatic comorbidities and psychiatric symptoms. This case report describes a 43-year-old man with an organic depressive disorder due to obstructive sleep apnoea. Initially, an atypical depressive episode or schizophrenic residual syndrome had been considered likely diagnoses; subsequent polysomnography results, however, suggested obstructive sleep apnoea instead. Upon nasal continuous positive airway pressure (nCPAP), the respiratory distress symptoms improved. The case report highlights the association between sleep disturbances and depressive symptoms. In patients presenting with symptoms of atypical depression and excess body weight sleep apnoea should be considered.
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PMID:[Obstructive sleep apnoea syndrome as the cause of atypical depression]. 2187 Mar 14

Laryngomalacia is defined as collapse of supraglottic structures during inspiration. It is the most common laryngeal disease of infancy. Laryngomalacia presents in the form of stridor, a high-pitched, musical, vibrating, multiphase inspiratory noise appearing within the first 10 days of life. Signs of severity are present in 10% of cases: poor weight gain (probably the most contributive element), dyspnoea with permanent and severe intercostal or xyphoid retraction, episodes of respiratory distress, obstructive sleep apnoea, and/or episodes of suffocation while feeding or feeding difficulties. The diagnosis is based on systematic office flexible laryngoscopy to confirm laryngomalacia and exclude other causes of supraglottic obstruction. Rigid endoscopy under general anaesthesia is only performed in the following cases: absence of laryngomalacia on flexible laryngoscopy, presence of laryngomalacia with signs of severity, search for any associated lesions prior to surgery, discrepancy between the severity of symptoms and the appearance on flexible laryngoscopy, and/or atypical symptoms (mostly aspirations). The work-up must be adapted to each child; however, guidelines recommend objective respiratory investigations in infants presenting signs of severity.
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PMID:Pathophysiology and diagnostic approach to laryngomalacia in infants. 2307 80

Osteochondroma is a common benign bone lesion, usually involving the long bones. Spinal involvement is rare. The clinical presentation of spinal osteochondroma varies according to the site of the lesion. The most common reported clinical presentation is secondary to encroachment of the lesion on the spinal canal or nerve roots. Less common presentations such as a palpable neck mass, dysphagia, sleep apnea, paralysis of left vocal cord or acute respiratory distress have been reported when the lesions compress the anatomic structures anteriorly. We describe a rare case of a young patient who presented with an emergent critical condition of acute cerebellar infarct as a result of vertebral artery compression caused by a solitary C1 spinal osteochondroma.
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PMID:Solitary C1 spinal osteochondroma causing vertebral artery compression and acute cerebellar infarct. 2510 81

Positive airway pressure (PAP) devices are used in the treatment of obstructive sleep apnoea syndrome (OSAS). In cases of PAP failure, many different surgical methods can be used for the treatment. The authors present an unusual case of a patient with Bi-level PAP (BiPAP)-intolerant severe OSAS who was treated with combined surgical methods. A 55-year-old man was treated with BiPAP due to OSAS; he was admitted to the clinic with nose stuffiness, respiratory distress and BiPAP adherence with tolerance and compliance problems. Septal deviation, concha hypertrophy, lateral pharyngeal band hypertrophy and Thornwaldt cyst were determined in the examination. Combined surgical methods were administered. The patient's apnoea hypopnoea index (AHI) was 72.8 in diagnostic polysomnography. Preoperative AHI was 7.3 and postoperative AHI was 2.3 while using BiPAP and, after the surgery, the BiPAP intolerance was eliminated. The authors suggest that a combination of different surgical methods would be an adjuvant treatment to increase BiPAP compliance.
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PMID:Combined surgical treatment for severe sleep apnoea, to improve BiPAP compliance. 2654 22

Respiratory dysfunction is a notorious cause of perinatal mortality in infants and sleep apnoea in adults, but the mechanisms of respiratory control are not clearly understood. Mechanical signals transduced by airway-innervating sensory neurons control respiration; however, the physiological significance and molecular mechanisms of these signals remain obscured. Here we show that global and sensory neuron-specific ablation of the mechanically activated ion channel Piezo2 causes respiratory distress and death in newborn mice. Optogenetic activation of Piezo2⁺ vagal sensory neurons causes apnoea in adult mice. Moreover, induced ablation of Piezo2 in sensory neurons of adult mice causes decreased neuronal responses to lung inflation, an impaired Hering-Breuer mechanoreflex, and increased tidal volume under normal conditions. These phenotypes are reproduced in mice lacking Piezo2 in the nodose ganglion. Our data suggest that Piezo2 is an airway stretch sensor and that Piezo2-mediated mechanotransduction within various airway-innervating sensory neurons is critical for establishing efficient respiration at birth and maintaining normal breathing in adults.
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PMID:Piezo2 senses airway stretch and mediates lung inflation-induced apnoea. 2800 6

Morquio patients, in many cases, present with severe tracheal narrowing and restrictive lung problems making them susceptible to high mortality arising from sleep apnea and related complications. Tracheal obstruction with growth imbalance, short neck, adeno and tonsillar hypertrophy, large mandible, and/or pectus carinatum also contributes to the challenges in managing the airway with intubation and extubation due to factors intrinsic to Morquio syndrome. Taken together, these issues lead to serious respiratory distress and life-threatening complications during anesthetic procedures. Furthermore, patients with Morquio syndrome frequently cannot perform standard pulmonary function tests as a result of their distinctive skeletal dysplasia and chest deformity, thus making diagnosis of incipient pulmonary disease difficult. In many cases, conventional spirometry is too difficult for patients to complete, deriving from issues with cooperation or clinical circumstance. Therefore, it is an unmet challenge to assess pulmonary insufficiency with standard pulmonary function test (PFT) with minimal effort. Non-invasive PFT such as respiratory inductance plethysmography, impulse oscillometry system, and pneumotachography were described in Morquio patients as compared with spirometry. Findings from our previous study indicate that these non-invasive tests are a reliable approach to evaluate lung function in a larger range of patients, and provide valuable clinical information otherwise unobtainable from invasive tests. In conclusion, the present study describes the utility of non-invasive (PFT) to accommodate a broad range of patients including intolerance to effort-dependent PFT.
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PMID:Non-invasive pulmonary function test on Morquio patients. 3029 25

Schaaf-Yang Syndrome (SYS) is a genetic disorder caused by truncating pathogenic variants in the paternal allele of the maternally imprinted, paternally expressed gene MAGEL2, located in the Prader-Willi critical region 15q11-15q13. SYS is a neurodevelopmental disorder that has clinical overlap with Prader-Willi Syndrome in the initial stages of life but becomes increasingly distinct throughout childhood and adolescence. Here, we describe the phenotype of an international cohort of 78 patients with nonsense or frameshift mutations in MAGEL2. This cohort includes 43 individuals that have been reported previously, as well as 35 newly identified individuals with confirmed pathogenic genetic variants. We emphasize that intellectual disability/developmental delay, autism spectrum disorder, neonatal hypotonia, infantile feeding problems, and distal joint contractures are the most consistently shared features of patients with SYS. Our results also indicate that there is a marked prevalence of infantile respiratory distress, gastroesophageal reflux, chronic constipation, skeletal abnormalities, sleep apnea, and temperature instability. While there are many shared features, patients with SYS are characterized by a wide phenotypic spectrum, including a variable degree of intellectual disability, language development, and motor milestones. Our results indicate that the variation in phenotypic severity may depend on the specific location of the truncating mutation, suggestive of a genotype-phenotype association. This evidence may be useful in both prenatal and pediatric genetic counseling.
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PMID:Schaaf-Yang syndrome overview: Report of 78 individuals. 3030 99


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