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)

We describe an autopsy case of MM1-type sporadic Creutzfeldt-Jakob disease (CJD), the duration of which was 93 days. The patient was a 59-year-old Japanese man with no family history of prion disease or known iatrogenic exposure to CJD. His first symptom was dysesthesia in the left arm, suggestive of cervical cord involvement, and he showed rapidly progressive neurologic signs, such as dysarthria, dysphagia, lethargy, sleep apnea and respiratory failure, suggestive of brainstem involvement. Progressive mental deterioration combined with episodes of myoclonic seizure and periodic synchronous discharges on the electroencephalogram were observed in the later disease stage. Autopsy showed typical spongiform change to be wide-spread in the cerebral and cerebellar cortices, thalamus and basal ganglia. Synaptic-type PrP deposition was marked in the cerebral cortex, thalamus and basal ganglia. In the cerebellum, although the granular, molecular and Purkinje cell layers were well preserved from neuronal loss and gliosis, PrP deposition was marked in the molecular and granular cell layers. Spongiform degeneration and neuronal loss were not seen in the brainstem and spinal cord, but relatively marked PrP deposition was observed in the quadrigeminal body, substantia nigra, pontine nucleus, inferior olivary nucleus and posterior horn. Immunohistochemical staining for HLA-DR showed proliferation of activated microglia in the cerebral and cerebellar cortices, pontine nucleus, inferior olivary nucleus and posterior horn. The mechanisms underlying the neurologic symptoms and signs were unclear, but we speculate that, in addition to widespread involvement of the cerebral cortex, PrP deposition and microglial activation in the brainstem and spinal cord were responsible.
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PMID:Autopsy case of sporadic Creutzfeldt-Jakob disease presenting with signs suggestive of brainstem and spinal cord involvement. 1720 92

Hypothyroidism is a common endocrine disorder with characteristic clinical symptoms and signs. Typical symptoms of hypothyroidism are lethargy, cold intolerance, slowing of intellectual and motor activity, decreased appetite, weight gain, and dry skin. A 39-year-old female presented to the clinic with dysarthria as the chief symptom. Subsequent questions revealed that other symptoms were confined to the otolaryngeal region, which were episodes of mild dysphonia, dysphagia, sleep apnea, and snoring. Laboratory data revealed marked hypothyroidism and positive tests for antithyroglobulin and antimicrosomal antibodies. After administration of thyroxin, the dysarthria and the other symptoms rapidly disappeared. Dysarthria may be the presenting symptom of hypothyroidism and can be resolved after hormone replacement therapy.
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PMID:Hypothyroidism presenting with dysarthria. 2301 93

The prevalence of obesity is growing at an alarming rate, placing many at risk for developing diabetes, hypertension, sleep apnea, or a combination of disorders known as "metabolic syndrome". The evidence to date suggests that metabolic syndrome results from an imbalance in the mechanisms that link diet, physical activity, glucose-insulin control, and autonomic cardiovascular control. There is also growing recognition that sleep-disordered breathing and other forms of sleep disruption can contribute significantly to autonomic dysfunction and insulin resistance. Chronic sleep deprivation resulting from sleep-disordered breathing or behavioral causes can lead to excessive daytime sleepiness and lethargy, which in turn contribute to increasing obesity. Analysis of this complex dynamic system using a model-based approach can facilitate the delineation of the causal pathways that lead to the emergence of the metabolic syndrome. In this paper, we provide an overview of the main physiological mechanisms associated with obesity and sleep-disordered breathing that are believed to result in metabolic and autonomic dysfunction, and review the models and modeling approaches that are relevant in characterizing the interplay among the multiple factors that underlie the development of the metabolic syndrome.
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PMID:Understanding the metabolic syndrome: a modeling perspective. 2323 40

Chronic obstructive pulmonary disease (COPD) and obstructive sleep apnoea (OSA) are highly prevalent disorders and the co-existence of both disorders, termed the overlap syndrome, affects at least 1% of the adult population. Patients with the overlap syndrome typically experience more pronounced nocturnal oxygen desaturation and there is a high prevalence of pulmonary hypertension in such patients. Recent evidence suggests that the prevalence of each disorder together is higher than might be predicted by simple prevalence statistics, although the evidence is not clear-cut in this regard. Sleep itself can have several negative effects in patients with COPD. Sleep quality is diminished with reduced amounts of slow wave and rapid-eye-movement (REM) sleep, which may contribute to daytime symptoms such as fatigue and lethargy. Furthermore, normal physiological adaptations during sleep that result in mild hypoventilation in normal subjects are more pronounced in COPD, which can result in clinically important nocturnal oxygen desaturation. Management of sleep disorders in patients with COPD should address both sleep quality and disordered gas exchange. Non-invasive pressure support is beneficial in selected cases, particularly during acute exacerbations associated with respiratory failure, and is particularly helpful in patients with the overlap syndrome. There is limited evidence of benefit from pressure support in the chronic setting in COPD patients without OSA.
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PMID:Chronic obstructive pulmonary disease and obstructive sleep apnoea-the overlap syndrome. 2690 64


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