Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0038454 (stroke)
 147,016 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

MELAS is characterized by mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes, but cardiac involvement also frequently occurs. An 80-year-old female patient had been suffering from insulin-dependent diabetes mellitus and neurosensory hearing loss. At the age of 79 she suffered metabolic acidosis with persistent drowsiness and was subsequently found to have severe cardiac dysfunction. Muscle biopsy disclosed the presence of abnormal mitochondria, and the MELAS gene mutation (A3243G of the tRNA(Leu(UUR))) was demonstrated. It is noteworthy that this mitochondrial disease patient has survived until a great age, which shows the wide clinical spectrum of MELAS, especially in the age of onset.
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PMID:An 80-year-old mitochondrial disease patient with A3243G tRNA(Leu(UUR)) gene presenting cardiac dysfunction as the main symptom. 1139 11

Obstructive sleep apnoea (OSA) affects up to 24% of middle aged males, resulting in excessive daytime sleepiness, cognitive dysfunction, hypertension, increased risks for acute coronary events, stroke and auto accidents. At special risk are individuals with BMI greater than 29, neck circumference greater than 43 cm (17 inches), macroglossia and retrognathia. Although non-surgical nasal positive air pressure (nCPAP) and mandibular advancement oral appliances are often effective and are the most widely used therapy, they are not definitive for more severe OSA and patients show poor long-term compliance. Surgical reduction of palatal, lingual and nasal soft tissue volumes improve airway functions in approximately 40% of patients with mild to moderate OSA. Maxillary and mandibular advancement osteotomies have proven over the past decade to reverse even severe OSA at greater than the 90% efficacy levels. Surgical treatment targeted to skeletal and airway soft tissue anomalies using a multidisciplinary treatment approach can have a major impact on this widespread and high-risk disorder.
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PMID:Surgical alternatives for treatment of obstructive sleep apnoea: review and case series. 1170 35

The objectives of treating hypertension are to achieve adequate control of blood pressure (BP) and maintain it under tight control. Maintenance of tight control of BP will most likely prevent stroke, heart attack, and heart failure, cause regression of left ventricular hypertrophy, and quite possibly preserve or improve renal function. The last two salutary effects combined will further reduce the morbidity and mortality in the treated hypertensive subjects. Choice of antihypertensive drugs is of significant importance so that our efforts to control hypertension do not grossly alter the quality of life. The cost of therapy is also an important consideration. Thus, thiazide diuretics, beta-blockers, and central inhibitors that are relatively inexpensive and adequately lower BP should be a common choice. However, if drowsiness interferes with work, or impotence becomes a threat for the marital partner or significant other, adjustment has to be made. The metabolic abnormalities consisting mainly of impaired glucose tolerance, hypercholesterolemia, and insulin resistance often induced by these relatively inexpensive drugs have put calcium channel blocker and ACE inhibitor group of drugs on the top of the list for antihypertensive therapy. They are far more expensive, yet offer no greater antihypertensive advantage than a diuretic or central inhibitor, except in special circumstances.
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PMID:Profiling Antihypertensive Therapy. 1185 Jul

Population-based epidemiologic studies have uncovered the high prevalence and wide severity spectrum of undiagnosed obstructive sleep apnea, and have consistently found that even mild obstructive sleep apnea is associated with significant morbidity. Evidence from methodologically strong cohort studies indicates that undiagnosed obstructive sleep apnea, with or without symptoms, is independently associated with increased likelihood of hypertension, cardiovascular disease, stroke, daytime sleepiness, motor vehicle accidents, and diminished quality of life. Strategies to decrease the high prevalence and associated morbidity of obstructive sleep apnea are critically needed. The reduction or elimination of risk factors through public health initiatives with clinical support holds promise. Potentially modifiable risk factors considered in this review include overweight and obesity, alcohol, smoking, nasal congestion, and estrogen depletion in menopause. Data suggest that obstructive sleep apnea is associated with all these factors, but at present the only intervention strategy supported with adequate evidence is weight loss. A focus on weight control is especially important given the expanding epidemic of overweight and obesity in the United States. Primary care providers will be central to clinical approaches for addressing the burden and the development of cost-effective case-finding strategies and feasible treatment for mild obstructive sleep apnea warrants high priority.
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PMID:Epidemiology of obstructive sleep apnea: a population health perspective. 1199 71

Obstructive sleep apnoea is a disease of increasing importance because of its neurocognitive and cardiovascular sequelae. Abnormalities in the anatomy of the pharynx, the physiology of the upper airway muscle dilator, and the stability of ventilatory control are important causes of repetitive pharyngeal collapse during sleep. Obstructive sleep apnoea can be diagnosed on the basis of characteristic history (snoring, daytime sleepiness) and physical examination (increased neck circumference), but overnight polysomnography is needed to confirm presence of the disorder. Repetitive pharyngeal collapse causes recurrent arousals from sleep, leading to sleepiness and increased risk of motor vehicle and occupational accidents. The surges in hypoxaemia, hypercapnia, and catecholamine associated with this disorder have now been implicated in development of hypertension, but the association between obstructive sleep apnoea and myocardial infarction, stroke, and congestive heart failure is not proven. Continuous positive airway pressure, the treatment of choice for obstructive sleep apnoea, reduces sleepiness and improves hypertension.
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PMID:Obstructive sleep apnoea. 1250 19

An 18-year-old male patient with MELAS phenotype and 2 previous episodes of cerebral stroke, recurrent seizures and nephropathy, was treated with creatine monohydrate after the acute onset of psychomental regression and changing states of somnolence and aggressive and agitated behaviour. These symptoms disappeared completely after 4 weeks of treatment with creatine after which the patient regained all his previous mental abilites. Brain (white matter) proton magnetic resonance spectroscopy (chemical shift imaging) performed at 6 and 12 months of treatment showed lactic acid (Lac) accumulation and high creatine (Cr) levels in relation to choline-containing compounds (Cho). Urinary creatinine excretion as an indicator of the muscle and brain creatine pool increased upon short-term (12 days) high-dosage creatine supplementation (20 g per day) while plasma creatinine concentrations as possible indicators both of increasing creatine pool and of renal insufficiency increased during the course (28 months) of low-dosage creatine supplementation (5 g per day). Deterioration of renal function was finally indicated by urea retention and by impairment of renal creatinine clearance. These observations suggest that creatine supplementation may have a neuroprotective effect in patients with MELAS and episodes of acute mental deterioration. Adverse effects of creatine supplementation on renal function must be considered especially in patients with preexisting nephropathy.
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PMID:Effects of oral creatine supplementation in a patient with MELAS phenotype and associated nephropathy. 1220 Jul 46

Four basic control mechanisms of breathing (brainstem respiratory centre, peripheral and central chemoreceptors, intero- and exteroceptive reflexes and suprapontine influences), as well as their sleep-related disorders are analysed. A decrease in central chemoreceptor sensitivity to CO2 and an increase in upper airway resistance during sleep result in hypoventilation and mild hypoxaemia already in physiological conditions. Compensatory increase in ventilatory effort with synchronous inhibition of pharyngeal dilators during sleep reduces the upper airway lumen manifesting with snoring, upper airway resistance syndrome, and OSA. The resulting hypoxaemia may cause marked cardiovascular, neuro-psychic, endocrine-metabolic and behavioural disorders. The augmented ventilatory effort and hypoxaemia evoke reflex dilation of airways and arousal from sleep, stimulating the sympatho-adrenal system, which provokes autoresuscitation by gasping preventing fatal asphyxia. Failure of this autoresuscitation mechanism seems to cause SIDS. Elimination of voluntary breathing by sleep either in Ondine's curse induced by lesions of respiratory centre, or in congenital central hypoventilation syndrome caused by insufficient central chemoreceptors result in respiratory failure and death. Nocturnal attacks of bronchial and cardiac asthma, lung oedema and other consequences of pulmonary congestion are also discussed. The pathomechanism of extreme daytime sleepiness, chronic fatigue, and disorders of memory, cognitive and other brain functions, are also analysed. Severe cardiovascular consequences of SAS may manifest acutely as angina pectoris, myocardial infarction. dysrhythmias, transient ischaemic attacks and even stroke or sudden cardiac death. OSAS may result also in development of hypertension, central obesity, diabetes mellitus, erectile dysfunction, depression, and various behavioural disorders.
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PMID:[Regulation of respiration and its sleep-related disorders]. 1244 39

The evolution of subjective sleep and sleep electroencephalogram (EEG) after hemispheric stroke have been rarely studied and the relationship of sleep variables to stroke outcome is essentially unknown. We studied 27 patients with first hemispheric ischaemic stroke and no sleep apnoea in the acute (1-8 days), subacute (9-35 days), and chronic phase (5-24 months) after stroke. Clinical assessment included estimated sleep time per 24 h (EST) and Epworth sleepiness score (ESS) before stroke, as well as EST, ESS and clinical outcome after stroke. Sleep EEG data from stroke patients were compared with data from 11 hospitalized controls and published norms. Changes in EST (>2 h, 38% of patients) and ESS (>3 points, 26%) were frequent but correlated poorly with sleep EEG changes. In the chronic phase no significant differences in sleep EEG between controls and patients were found. High sleep efficiency and low wakefulness after sleep onset in the acute phase were associated with a good long-term outcome. These two sleep EEG variables improved significantly from the acute to the subacute and chronic phase. In conclusion, hemispheric strokes can cause insomnia, hypersomnia or changes in sleep needs but only rarely persisting sleep EEG abnormalities. High sleep EEG continuity in the acute phase of stroke heralds a good clinical outcome.
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PMID:Evolution of sleep and sleep EEG after hemispheric stroke. 1246 1

Hashimoto's autoimmune thyroiditis is a common cause of thyroid disease. Neurological dysfunction related to thyroid hypo or hyperfunction is well known. Not so is autoimmune thyroid disease-associated or Hashimoto's encephalopathy, which includes different neurological manifestations appearing in the context of autoimmune thyroiditis with normal hormone levels. Around fifty cases have been reported since the first description by Brain in 1966. Pathogenesis is unknown, although the most accepted theory points out to an autoimmune cerebral dysfunction. There are two different clinical presentations. The vasculitic type is characterized by relapsing-remitting stroke-like episodes. The diffuse-progressive type shows insidious cognitive impairment, confusion, psychosis, somnolence and coma. Cerebrospinal fluid is abnormal in more than 80% of patients, with high protein levels and mononuclear pleocytosis. Steroids are the treatment of choice, although favourable evolution have been reported spontaneously or after thyroxine treatment.
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PMID:[Hashimoto's encephalopathy]. 1248 58

Sleep-disordered breathing (SDB) and sleep-wake disturbances (SWD) are frequent in stroke patients. They deserve attention, because they may significantly influence rehabilitation process and functional outcome. In addition, SDB may increase the risk of stroke recurrence. More than 50% of stroke patients have SDB, mostly obstructive sleep apnea (OSA). In some patients, stroke recovery is accompanied by an improvement of SDB. The treatment of choice for OSA is continuous positive airway pressure. Oxygen, theophylline, and other forms of ventilation may be helpful in patients with other forms of SDB (eg, Cheyne-Stokes breathing). In at least 20% to 40% of stroke patients, SWD are present, mainly in form of increased sleep needs (hypersomnia), excessive daytime sleepiness, or insomnia. Depression, anxiety, SDB, stroke complications (eg, nocturia, dysphagia, and urinary or respiratory infections), and drugs may contribute to SWD and should be addressed first. In patients with SWD of primary neurologic origin, treatment with stimulants or dopaminergic drugs and hypnotics or sedating antidepressants, respectively, can be attempted.
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PMID:Sleep Apnea and Other Sleep-Wake Disorders in Stroke. 1267 Apr 13


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