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)

Twenty patients complaining of excessive daytime somnolence (EDS) secondary to significant head trauma were studied objectively. Several polygraphic recording protocols were performed over the 12-year study period. Eighteen of the 20 patients were objectively sleepy, 8 of them presented mixed sleep apnea syndrome that fragmented their sleep, 5 patients' sleep-related breathing problems improved over time, 9 patients presented daytime somnolence, and 1 reported abrupt bouts of muscle weakness and had two sleep onset rapid eye movement (REM) periods during daytime testing. Cerebrospinal fluid analysis for specific neurotransmitter metabolites' evaluation, pre- and postprobenecid, did not differentiate posttraumatic EDS patients from narcoleptics or other patients with EDS. Two patients (one with organic brain syndrome, the other depressed) reported subjective sleepiness, not confirmed by objective data. Objective testing in posttraumatic sleepiness is recommended because of the plurality of problems and medicolegal implications.
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PMID:Posttraumatic excessive daytime sleepiness: a review of 20 patients. 668 31

The natural history of symptomatic adult Type I Arnold-Chiari malformation (ACM) is variable, and the value of surgery in the management of this disease is difficult to assess. A series of 71 patients in whom a diagnosis of Type I ACM was confirmed at operation is presented, and the progress of the patients following posterior fossa decompression is analyzed. The length of history varied greatly. Pain was the commonest symptom (69% of patients); other symptoms included weakness (56%), numbness (52%), and unsteadiness (40%). The presenting physical signs consisted of a foramen magnum compression syndrome (22%), central cord syndrome (65%), or a cerebellar syndrome (11%). Myelography was performed in 69 patients, and was the most useful investigation. Only 23% of plain radiographs were abnormal. In addition to tonsillar descent, the operative findings included arachnoid adhesions (41%) and syringomyelia (32%). All patients underwent suboccipital craniectomy and C1-3 laminectomy. Respiratory depression was the most frequent postoperative complication (14%), and one patient died from sleep apnea. Early postoperative improvement of both symptoms (82%) and signs (70%) was followed by later relapse in 21% of patients, showing an initial benefit following surgery. None of the patients with a cerebellar syndrome deteriorated, whereas 56% of patients with evidence of foramen magnum compression and 66% of those with a central cord syndrome maintained their initial improvement. The authors conclude that posterior fossa decompression appears to benefit some patients, although a significant proportion might be expected to relapse within 2 to 3 years after operation, depending upon the presenting syndrome.
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PMID:Arnold-Chiari malformation. Review of 71 cases. 684 74

Sleep apnea occurring in association with neurologic lesions is usually of the central type. We have described a patient in whom obstructive sleep apnea followed a lateral medullary syndrome. We hypothesize that the upper airway obstruction during sleep was due to weakness of the palatal and pharyngeal muscles resulting from the neurologic lesion. The patient initially had reduced respiratory center motor output (mouth occlusion pressure) which increased significantly after tracheostomy. We conclude that obstructive as well as central apnea may follow neurologic lesions. Each patient should be carefully evaluated to provide proper treatment.
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PMID:Obstructive sleep apnea after lateral medullary syndrome. 705 83

Respiratory disorders during sleep were studied in 42 patients with Duchenne muscular dystrophy (DMD) (mean age 18.4 years). Chest and abdominal movement, nasal airflow, snoring sounds, eye movement, and oxygen saturation were monitored during sleep. Three patterns of disorders were found: obstructive apnea, central apnea, and paradoxical respiration without upper airway obstruction (non-obstructive paradoxical respiration). Of these three patterns, obstructive apnea was the most common. Hypertrophy of the tongue and collapsibility of the upper airway seemed to be responsible for the obstructive apnea in these patients. The relationships between PaCO2 while breathing room air and the various indices of respiratory disorders were studied. The index of central apnea differed significantly between patients in whom PaCO2 was less than 50 Torr (early disease, n = 22) and those in whom PaCO2 was greater than or equal to 50 Torr (advanced disease, n = 20), but the indices of obstructive apnea and non-obstructive paradoxical respiration did not differ between those two groups. In conclusion, sleep disorders were common in patients with DMD, and the most common was obstructive apnea. In the patients with advanced DMD, blood gas analysis showed hypercapnia, and the index of central sleep apnea was high, probably because of respiratory muscle weakness or abnormalities in the respiratory center.
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PMID:[Respiratory disorders during sleep in Duchenne muscular dystrophy]. 747 61

Post-poliomyelitis respiratory impairment is extremely common and entails considerable risk of morbidity and mortality. Respiratory muscle weakness is the primary etiological factor but post-poliomyelitis individuals (PPIs) also have a high incidence of scoliosis, obesity, sleep disordered breathing, and bulbar muscle dysfunction, all of which can add to the risk. One hundred forty-five PPIs were managed by noninvasive alternatives to intermittent positive pressure ventilation (IPPV) via an indwelling tracheostomy. When properly managed in this manner, acute respiratory failure requiring hospitalization, tracheal intubation, and bronchoscopies were avoided. Timely introduction of mouthpiece IPPV, nasal IPPV, manually and mechanically assisted coughing, and noninvasive blood gas monitoring in the home were the principal techniques used for optimizing quality of life and for avoiding complications.
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PMID:Management of post-polio respiratory sequelae. 761 64

Patients with mitochondrial disease may present to the Intensive Care Unit (ICU) with a variety of neurological and general medical disorders. Eleven patients were admitted to a neurological ICU between 1970 and 1992 because of respiratory insufficiency, status epilepticus and/or metabolic encephalopathy associated with mitochondrial disease. Respiratory impairment occurred in eight patients and was associated with nocturnal hypoventilation due to respiratory muscle weakness, aspiration due to bulbar weakness and abnormalities of central control leading to a reduced CO2 drive, irregular respiratory patterns and sleep apnoea. Seven patients received continuous respiratory support during the acute illness; three were subsequently weaned to domiciliary ventilation, and four died. Five patients had stroke-like episodes, which in two were recurrent. Four patients developed tonic-clonic grand mal epilepsy associated with myoclonic fits (2 patients), absences (2), focal fits (1) and status epilepticus (2). Encephalopathy was associated with recurrent lactic acidosis (2 patients), cardiac failure (2), hyponatraemia (2), renal abnormalities (3) and complete heart block (1). Although rare, mitochondrial disease should be considered in any patient with unexplained respiratory failure, intractable epilepsy, lactic acidosis or recurrent stroke.
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PMID:Management of mitochondrial disease on an intensive care unit. 776 70

Poor sleep is a common complaint, accounting for 4-5% of all general practitioner consultations. Disorders of initiating sleep are overrated by patients compared with disorders of maintaining sleep, despite the greater effect of the latter on daytime performance. There is frequently a discrepancy between subjective observations and objective measurements of sleep. General practitioners should pay attention to sleep disorders lasting more than three weeks and should bear in mind that poor sleep is a symptom, the underlying cause of which needs to be determined. Good coordination of endogenous biorhythms and external life and working circumstances can positively influence sleeping patterns. Sleep onset latency determines the amount of deep sleep and, thus, the duration and stability of core sleep. General practitioners usually prescribe a single type of benzodiazepine drug with a half-life of 5-10 h for sleep disorders. Such drugs cause the patient to fall asleep quickly, to have a considerable period of uninterrupted sleep with little waking and to wake in the morning with a subjective feeling of having slept well. A number of less desirable changes can occur, however, that may produce, for example, anxiety dreams, increased snoring and sleep apnoea periods at night, and weakness of muscles during the day. The third generation of hypnotic agents produce less undesirable changes than the second generation. Zolpidem (an imidazoypridine), one such agent, seems to provide an effective treatment for insomnia without inducing undesirable side-effects.
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PMID:Is "poor sleep" too vague a concept for rational treatment? 818 40

The PPS is now a well-recognized entity encompassing the late manifestations that occur because of previous poliomyelitis. Common signs and symptoms include fatigue, cold intolerance, joint deteriorations with pain, and prominent neurologic problems that include new weakness, muscle pain, atrophy, respiratory insufficiency, dysphagia, and sleep apnea. It is estimated that there are 1.63 million polio survivors in the United States and that half of them will develop PPS. PPS and PPMA usually begin 30 to 40 years after the acute illness and are very slowly progressive. The etiology is unclear, although premature exhaustion of the new sprouts that develop after acute poliomyelitis and of their motor neurons appears most likely. Less likely is a persistent polio-virus infection or an immune-mediated problem. Treatment is primarily supportive, although nonfatiguing strengthening exercise may improve strength over the short term. The long-term effects of this type of exercise remain to be clarified.
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PMID:Post-polio syndrome: an update. 827

Eighty-four patients with primary disorders of muscle were referred for assessment of respiratory insufficiency between 1978 and 1991. The eventual diagnoses were: 'limb girdle syndromes' (18 patients), adult onset acid maltase deficiency (14), dystrophia myotonica (13), inflammatory disorders (10), congenital myopathies (nine), rigid spine syndromes (five), dystrophies (Duchenne (six), facioscapulohumeral (four), Becker (one)) and miscellaneous (four). Presentations were often insidious, with progressive nocturnal hypoventilation culminating in respiratory failure or arrest, recurrent respiratory tract infections, or obstructive sleep apnoea. Respiratory symptoms developed relatively early in patients with acid maltase deficiency and inflammatory disorders but parallelled the development of limb weakness in limb girdle, myotonic and congenital syndromes. Sixty-six patients received respiratory support for a median of 5 years (1-34 years) using various techniques of negative and positive pressure ventilation. Fourteen patients received short-term support for an episode of respiratory failure before being weaned, 51 required nocturnal domiciliary ventilation and one was dependent on continuous domiciliary support. Tracheostomy was performed in 32 patients and used for domiciliary nocturnal ventilation in 25. Twenty-eight patients have subsequently died.
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PMID:Respiratory involvement in primary muscle disorders: assessment and management. 848 91

Hunter's syndrome is one of a group of heritable metabolic disorders caused by decreased activity of one or more of the lysosomal enzymes responsible for mucopolysaccharide catabolism, resulting in excessive deposition of mucopolysaccharides in skeletal and soft tissues. Pulmonary conditions, such as airway obstruction, sleep apnea syndrome, atalectasis, recurrent pneumonia and difficult endotracheal intubation are known to be associated with these rare disorders and have been reported. We report the findings at laryngotracheobronchoscopy of a patient with Hunter's syndrome with airway symptoms and, supported by analysis of previously reported cases of airway problems associated with the syndrome, suggest that tracheobronchomalacia with classifiable major airway collapse (MAC) may be the pathological correlate for this clinical picture. The endoscopic technique and characteristic findings of tracheobronchomalacia/MAC are discussed, as well as the natural history and pathophysiology of this condition, which is characterized by weakness of the tracheal wall due to softening of the supporting cartilage and hypotonia of the myoelastic elements with reduction in the tracheal lumen.
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PMID:Tracheobronchomalacia in Hunter's syndrome. 850 49


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