Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0013421 (dystonia)
 8,418 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Wakefulness and sleep are antagonistic states competing for the domain of brain activity. Non-REM sleep and REM sleep are different states of being, sustained by activity in brainstem nuclei, hypothalamus, basal forebrain, and thalamus. Such complex phenomenology is subject to many alterations grouped in the new International Classification of Sleep Disorders. The insomnias are the result of interacting psychosocial, psychophysiologic, neurodevelopmental, and medical factors. Proper perspective of each factor provides the clinical strategies to approach medically the symptom-complex of insomnia. The most common cause of daytime hypersomnia is chronic sleep deprivation. Obstructive sleep apnea responds to nasal CPAP, but the failure rate approaches 30%. In intolerant patients BiPAP and surgical remedies should be considered. Motor and behavioral abnormalities of sleep may be linked to REM sleep as in the REM sleep behavior disorder. Paroxysmal nocturnal dystonia and nocturnal wanderings may be associated with epilepsy. Intrusions of one state of being (wakefulness, non-REM sleep, and REM sleep) into another result in mixed, poorly defined, or only partially developed states. Dissociation of states may be responsible for confusional arousals, hallucinations, and cateplexy. Senile degeneration of the suprachiasmatic nuclei may underlie the circadian rhythm changes in old age and the "sundown" syndrome in demented patients. Misalignment of the hypothalamic pacemaker causes dysregulation of sleep-related physiologic and behavioral variables. Exposure to bright light retrains the pacemaker in night-shift workers, transmeridian travelers, and in patients with seasonal affective syndrome. Benzodiazepine compounds are very effective hypnotics, but should be used sparingly in the elderly to avoid falls, memory lapses, and aggravation of a preexisting sleep apnea syndrome. Sleep laboratory evaluations are indicated in patients with hypersomnia, suspected sleep apnea syndrome, motor-behavioral disorders of sleep, and in many individuals complaining of insomnia.
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PMID:Update on disorders of sleep and the sleep--wake cycle. 160 36

Solitary extramedullary plasmacytomas are uncommon neoplasms. They occur most frequently in the upper aerodigestive tract and account for 4% of the nonepithelial tumors in this site. The evolution of a plasmacytoma is unsteady and symptoms at presentation have included dystonia, dysphagia, oral pain, cough, and dyspnea on exertion. Plasmacytoma of the upper aerodigestive tract has not been previously reported as a cause of obstructive sleep apnea.
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PMID:Plasmacytoma as a cause of obstructive sleep apnea. 876 30

There is nothing more discouraging than for a patient to be given a specific diagnosis, then to be told that there is nothing that can be done. Physicians are equally disheartened to see exponential progress being made in the understanding of the pathophysiology of a complex disorder but few direct benefits resulting for their patients. Over the past 5 years, molecular genetic research has completely revolutionized the way in which the progressive cerebellar ataxias are classified and diagnosed, but it has yet to produce effective gene-based, neuroprotective, or neurorestorative therapies. The treatment of cerebellar ataxia remains primarily a neurorehabilitation challenge, employing physical, occupational, speech, and swallowing therapy; adaptive equipment; driver safety training; and nutritional counseling. Modest additional gains are seen with the use of medications that can improve imbalance, incoordination, or dysarthria (amantadine, buspirone, acetazolamide); cerebellar tremor (clonazepam, propranolol); and cerebellar or central vestibular nystagmus (gabapentin, baclofen, clonazepam). Many of the progressive cerebellar syndromes have associated features involving other neurologic systems (eg, spasticity, dystonia or rigidity, resting or rubral tremor, chorea, motor unit weakness or fatigue, autonomic dysfunction, peripheral or posterior column sensory loss, neuropathic pain or cramping, double vision, vision and hearing loss, dementia, and bowel, bladder, and sexual dysfunction), which can impede the treatment of the ataxic symptoms or can worsen with the use of certain drugs. Treatment of the associated features themselves may in turn worsen the ataxia either directly (as side effects of medication) or indirectly (eg, relaxation of lower limb spasticity that was acting as a stabilizer for an ataxic gait). Secondary complications of progressive ataxia can include deconditioning or immobility, weight loss or gain, skin breakdown, recurrent pulmonary and urinary tract infections, aspiration, occult respiratory failure, and obstructive sleep apnea, all of which can be life threatening. Depression in the patient and family members is common. Although no cures exist for most of the causes of cerebellar ataxia and there are as yet no proven ways to protect neurons from premature cell death or to restore neuronal populations that have been lost, symptomatic treatment can greatly improve the quality of life of these patients and prevent complications that could hasten death. Supportive interventions should always be offered-- education about the disease itself, genetic counseling, individual and family counseling, referral to support groups and advocacy groups, and guidance to online resources. Misinformation, fear, depression, hopelessness, isolation, and financial and interpersonal stress can often cause more harm to the patient and caregiver than the ataxia itself.
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PMID:Cerebellar Ataxia. 1109 49

Obstructive sleep apnea syndrome is a chronic condition of airway obstruction, common in children, with known clinical consequences. The etiology of OSAS in children stems from a combination of obstructing structural factors and neuromotor factors. In children, tonsilar hypertrophy accounts for this condition in most cases, however, in about 20% of the cases, other causes are involved. For the treatment of apnea in children, adenotonsillectomy is the most commonly performed procedure, though we should indicate the treatment according to its underlying cause. The aim of this paper is to highlight other possible apnea etiologies, contributing to appropriate diagnosis and treatment. We present two cases of patients with apnea of unusual origin: one of respiratory dystonia and another of supraglottic stenosis as the causative factor of obstructive sleep apnea. In conclusion, we emphasize the need for the ENT to perform detailed research on the etiology of apnea, for individualized treatment.
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PMID:Laryngeal pathologies as an etiologic factor of obstructive sleep apnea syndrome in children. 2333 86

Playing a musical instrument can affect physical and mental health. A literature review was conducted to determine the prevalence of health problems among oboists, which medical conditions can be caused or exacerbated by playing, whether oboe playing can be a protective factor, and whether recommendations are possible as to who should or should not play the oboe. Searches in 7 databases (Medline, Embase, Cochrane Library, Web of Science, SocIndex, PsyIndex, Psychinfo) yielded a total of 950 studies; after exclusion of duplicates and those not meeting eligibility criteria, 37 articles were selected for final analysis. In addition, Google Scholar and a musicology library served as additional sources, revealing another 6 publications for inclusion. As a result, some evidence was found for musculoskeletal problems, focal dystonia, stress velopharyngeal incompetence, increased intraocular pressure and glaucoma, gastroesophageal reflux disease, lower pulmonary function, disease transmission via instruments, and hearing loss due to noise exposure. Playing the oboe may be protective against obstructive sleep apnea. However, due to small sample sizes, uncertain reproducibility of findings, and lack of accurate descriptions of problems reported by oboists, far more evidence would be necessary to answer the research questions conclusively. There was no evidence for causal relationships, and thus no recommendations can be made regarding who should (not) play the oboe. To improve the quality of medical care for these musicians and to implement prevention strategies, future investigations with more in-depth instrument-specific analyses and higher numbers of participants are needed.
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PMID:Medical Issues in Playing the Oboe: A Literature Review. 2923 58