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)

A 48-year-old female with multiple sclerosis (MS) accompanied by intractable hiccups of over one month' duration and the sleep apnea syndrome was reported. This MS patient had been well controlled until September 16, 1991 when she experienced nausea, vomiting and hiccups. The patient was admitted to Kawasaki Medical School Hospital on October 9, 1991. A physical examination revealed intractable hiccups. T1-weighted MRI showed a low and T2-weighted image disclosed a high signal intensity area in the tegmentum of the medulla oblongata. The intractable hiccups and vomiting improved with intravenous high dose methylprednisolone injection therapy. The following day, she complained of insomnia and her family observed severe snoring and apnea during the night. These symptoms and the results of a breathing monitor were compatible with the sleep apnea syndrome. These symptoms disappeared following the administration of amitriptyline. There have been few reports of the combination of intractable hiccups and the sleep apnea syndrome in MS. The MRI findings suggest that the causative lesion of these symptoms is in the tegmentum of the medulla oblongata.
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PMID:[A case of multiple sclerosis with intractable hiccups and sleep apnea syndrome]. 129 Nov 66

Respiratory complications occur in advanced multiple sclerosis (MS) but may also complicate acute relapses earlier in the disease. We present 19 patients with MS who developed respiratory complications at a mean of 5.9 (range 1-12) yrs after the onset of neurological symptoms. Fourteen patients developed severe respiratory insufficiency presenting with a combination of reduced forced vital capacity (FVC), hypoxaemia or hypercapnia (12 patients) and respiratory arrest (four patients). Two patients presented with apneustic breathing, one with paroxysmal hyperventilation, one with obstructive sleep apnoea and one with bulbar weakness leading to aspiration pneumonia. Respiratory muscle weakness was a major factor in 14 patients (predominantly diaphragm involvement in six), bulbar weakness in seven patients, impaired voluntary control in three and impaired automatic control in three. Twelve patients received mechanical respiratory support of whom seven have subsequently died. The methods of support used were intermittent positive pressure ventilation (nine patients), iron lung (three), cuirass (two) and rocking bed (one). Six patients were maintained on respiratory support until they died after intervals varying from 24 h to 6 yrs (mean 17.7 mths). Five patients received temporary ventilation for between 6 d and 42 d: of these four remain alive at up to 4 yrs and one died after 16 yrs. One patient remains on domiciliary nasal intermittent positive pressure ventilation (IPPV) after 1 yr.
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PMID:Respiratory involvement in multiple sclerosis. 160 78

Opening and closing of the larynx are determined by the intrinsic and extrinsic muscles acting on the elastic forces in the tongue, pharynx, larynx, and trachea. The pharynx is opened or closed by two mechanisms: (1) Contractions of the cricothyroid and of the intrinsic muscles of the larynx open and close the vocal cords. (2) The false cords, ventricle, and true cords accordion open or close in a bellows mechanism. We conclude that the posterior cricoarytenoid opens the laryngeal airway. The cricothyroid together with the posterior cricoarytenoid accentuates this opening. The larynx is also opened by the geniohyoid, mylohyoid, sternothyroid, and middle constrictor. The thyrohyoid, cricothyroid, sternohyoid, and inferior constrictor close the laryngeal airway. Abnormalities in the soft tissues of the neck or of the innervation of the larynx, pharynx, and neck muscles may severely interfere with patency of the laryngeal airway. This occurs in such conditions as vocal cord paralysis, sleep apnea, multiple sclerosis, amyotrophic lateral sclerosis, spastic dysphonia, mandibular fractures or hypodevelopment, and cerebrovascular disease.
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PMID:Opening and closing mechanisms of the larynx. 643 58

It has been suggested that sleep disturbances in multiple sclerosis (MS) may be related to periodic leg movements (PLM) during sleep, but to date polysomnographic studies were conducted only on small and unselected patient groups. Aim of this study was to evaluate 8-hour polysomnography in MS patients and to correlate sleep results with clinical and brain magnetic resonance imaging (MRI) data. Twenty-five clinically definite MS patients, without mood disorders and drug-free, entered the study. The patients were compared to 25 age- and sex-matched subjects. MS patients had significantly reduced sleep efficiency and experienced more awakenings during sleep. No difference was found in sleep architecture parameters between MS patients and controls. PLM was found in 9 patients (36%) and 2 controls (8%; p = 0.02). Of the six patients who complained of insomnia two had PLM and 2 others presented with PLM and central sleep apnea. In patients with PLM greater MRI lesion loads were detected in the infratentorial regions, particularly in cerebellum and brainstem. Larger studies in neurological diseases that produce focal lesions in these brain areas could provide useful information on the PLM pathogenesis.
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PMID:Nocturnal sleep study in multiple sclerosis: correlations with clinical and brain magnetic resonance imaging findings. 780 67

Twenty-eight consecutive patients with multiple sclerosis (MS) were clinically evaluated to determine the presence of sleep-related disorders. There were 12 males and 16 females aged between 22 and 67 with disability ranging between 1.5 and 8.5 on Kurtzke extended disability status score (EDSS). Fifteen patients (54%) reported sleep-related problems. These included difficulties initiating sleep and/or frequent awakenings due to spasms or discomfort in the legs (8 patients), difficulty in initiating or maintaining sleep (3), habitual snoring (4) and nocturia (1). All-night oximetry was performed and the tracings analysed for the number of dips in oxygen saturation (SaO2) or more than 4%. Three patients showed significant sleep-related oxygen desaturation (> 5 dips of > 4% SaO2/h). Subsequent polysomnography performed in 2 of the 3 patients with significant oxygen desaturation confirmed the presence of sleep apnoea. MRI analysis of brain stem regions showed abnormalities in 20/22 cases. The 3 patients showing nocturnal oxygen desaturation had MRI brain stem lesions, but their locations were variable and their general appearance not different from that seen in the 17 without sleep apnoea. Sleep disturbance in MS is common but poorly recognised. It is usually due to leg spasms, pain, immobility, nocturia or medication. It is much less commonly associated with nocturnal respiratory insufficiency.
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PMID:Sleep problems in multiple sclerosis. 785 52

Two cases of multiple sclerosis associated with intractable hiccups (IH) and sleep apnea syndrome (SAS) are reported. Lesions were detected in the tegmentum of the medulla oblongata by magnetic resonance imaging. In one case, high dose methylprednisolone was remarkably effective for the IH. For the SAS, amitriptyline was effective in one case. The IH and SAS are thought to be important symptoms when a lesion occurs in the tegmentum of the medulla oblongata, including the paramedian and lateral reticular formations. If IH appears in conjunction with a lesion in the tegmentum of the medulla oblongata, one must be vigilant for the development of SAS.
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PMID:Intractable hiccups and sleep apnea syndrome in multiple sclerosis: report of two cases. 811 39

We report 2 patients with multiple sclerosis (MS) who were symptomatic but ambulatory, and died in their sleep. Sleep studies in 1 patient showed hypercarbia and hypoxia accompanying sleep. In both cases autopsy showed plaques of multiple sclerosis in the medulla oblongata, incompletely involving the neuroanatomic areas of the medullary reticular formation controlling automatic breathing. A systematic analysis of the location of the plaques in relation to areas known to be important in breathing control revealed that the regions corresponding to the ventral nuclear complex of respiratory control in animals were incompletely and unilaterally involved in both cases. Close correlation with nuclei that have been demonstrated in animal experiments to be important in descending respiratory control of phrenic and intercostal musculature was not possible due to possible differences in anatomy between animals and humans, and the fact that plaques of MS affect axons of passage and spare neuronal cell bodies. Nevertheless, the cases clearly illustrate that patchy, unilateral lesions of the medullary reticular formation in humans can give rise to sleep disordered breathing. The cases also illustrate the risk of death during sleep in MS patients with demyelination in the medulla oblongata, and demonstrate the need to carefully examine the medulla in MS patients if they die unexpectedly during sleep.
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PMID:Multiple sclerosis with medullary plaques and fatal sleep apnea (Ondine's curse). 892 93

The Ullanlinna Narcolepsy Scale (UNS) is a simple questionnaire-based method used to measure the symptoms of the narcoleptic syndrome. The 11-item scale (range 0-44) assesses the two main features of the narcoleptic syndrome, the abnormal sleeping tendency and cataplexy. The UNS sum score reliably distinguishes patients with the narcoleptic syndrome from patients with sleep apnoea, multiple sclerosis, and epilepsy. The mean score in patients with the narcoleptic syndrome was 27.3 (95% confidence limits 24.4-33.1); the sleep apnoea group with a mean score of 9.6 (95% confidence limits 7.2-12.0) came closest to this. Validation data were also selected from a large survey of non-institutionalized adults in Finland including groups with insomnia, excessive daytime sleepiness, sleep deprivation, sciatica, alcohol abuse, and high scores on a depression scale and on a scale of neurovegetative symptoms. With the lowest UNS score in the narcoleptic syndrome group (= 14) as the cutpoint, the sensitivity is 100% and the specificity is 98.8% in the subjects studied. The accurate assessment of the symptoms of the narcoleptic syndrome in a format suitable for questionnaire studies is essential.
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PMID:The Ullanlinna Narcolepsy Scale: validation of a measure of symptoms in the narcoleptic syndrome. 1060 9

Recent successes in identifying the underlying genetic mechanisms for neurological diseases, particularly for their Mendelian forms, have had profound implications for their diagnostics, treatment and classification. However, there has never been an attempt to compare familial risks in a systematic way among and between the main neurological diseases. Familial risks were here defined for siblings who were hospitalized because of a neurological disease in Sweden. A nationwide database for neurological diseases was constructed by linking the Multigeneration Register of 0- to 69-year-old siblings to the Hospital Discharge Register for the years 1987 to 2001. Standardized risk ratios were calculated for affected sibling pairs by comparing them to those whose siblings had no neurological disease. There were three main results. First, it was shown that all disease groups had a familial risk, with the exception of transient ischemic attacks, and the risks could be ranked from the highest (3451) for Huntington's disease to the lowest (2.1) for inflammatory diseases. Second, increased familial risks were shown for disease subtypes for which susceptibility genes or familial clustering have not been demonstrated previously, including multiple sclerosis, sleep apnea, nerve, nerve root and plexus disorders, and cerebral palsy. Third, based on the available sample size there was no convincing evidence for familial comorbidity between the disease groups, suggesting that the factors causing familial aggregation, probably usually heritable genes, are distinct for each subtype. The high familial risks for neurological disease imply heritable etiology and opportunities for identification of further susceptibility genes.
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PMID:Familial risks for main neurological diseases in siblings based on hospitalizations in Sweden. 1689 66

Modafinil is a wake-promoting agent that is pharmacologically different from other stimulants. It has been investigated in healthy volunteers, and in individuals with clinical disorders associated with excessive sleepiness, fatigue, impaired cognition and other symptoms. This review examines the use of modafinil in clinical practice based on the results of randomized, double-blind, placebo-controlled clinical trials available in the English language in the MEDLINE database. In sleep-deprived individuals, modafinil improves mood, fatigue, sleepiness and cognition to a similar extent as caffeine but has a longer duration of action. Evidence for improved cognition in non-sleep-deprived healthy volunteers is controversial.Modafinil improves excessive sleepiness and illness severity in all three disorders for which it has been approved by the US FDA, i.e. narcolepsy, shift-work sleep disorder and obstructive sleep apnoea with residual excessive sleepiness despite optimal use of continuous positive airway pressure (CPAP). However, its effects on safety on the job and on morbidities associated with these disorders have not been ascertained. Continued use of CPAP in obstructive sleep apnoea is essential. Modafinil does not benefit cataplexy.In very small, short-term trials, modafinil improved excessive sleepiness in patients with myotonic dystrophy. It was efficacious in fairly large studies of attention deficit hyperactivity disorder (ADHD) in children and adolescents, and was as efficacious as methylphenidate in a small trial, but has not been approved by the FDA, in part because of its serious dermatological toxicity. In a trial of 21 non-concurrent subjects, with 2-week treatment periods, modafinil was as effective as dexamfetamine in adult ADHD. Modafinil was helpful for depressive symptoms in bipolar disorder in a trial that excluded patients with stimulant-induced mania. A single dose of modafinil may hasten recovery from general anaesthesia after day surgery. A single dose of modafinil improved the ability of emergency room physicians to attend didactic lectures after a night shift, but did not improve their ability to drive home and caused sleep disturbances subsequently.Modafinil had a substantial placebo effect on outcomes such as fatigue, excessive sleepiness and depression in patients with traumatic brain injury, major depressive disorder, schizophrenia, post-polio fatigue and multiple sclerosis; however, it did not provide any benefit greater than placebo.Trials of modafinil for excessive sleepiness in Parkinson's disease, cocaine addiction and cognition in chronic fatigue syndrome provided inconsistent results; all studies had extremely small sample sizes. Modafinil cannot be recommended for these conditions until definitive data become available.Modafinil induces and inhibits several cytochrome P450 isoenzymes and has the potential for interacting with drugs from all classes. The modafinil dose should be reduced in the elderly and in patients with hepatic disease. Caution is needed in patients with severe renal insufficiency because of substantial increases in levels of modafinil acid. Common adverse events with modafinil include insomnia, headache, nausea, nervousness and hypertension. Decreased appetite, weight loss and serious dermatological have been reported with greater frequency in children and adolescents, probably due to the higher doses (based on bodyweight) used. Modafinil may have some abuse/addictive potential although no cases have been reported to date.
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PMID:Approved and investigational uses of modafinil : an evidence-based review. 1872 34


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