Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0020672 (hypothermia)
 17,327 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Brain dopaminergic pathways play a major role in the control of movement. Absence of the murine dopamine D2 receptor gene (drd2) produces bradykinesia and hypothermia. A Ser311Cys mutation of the human DRD2 produces a marked functional impairment of the receptor and is associated with higher BMI in some populations. We hypothesized that the Ser311Cys mutation of DRD2 may inhibit energy expenditure. Here we report that total energy expenditure (doubly labeled water) measured in 89 nondiabetic Pima Indians was 244 kcal/ day lower in homozygotes for the Cys311-encoding allele when compared with those heterozygous and homozygous for the Ser311-encoding allele (P = 0.056). The 24-h resting energy expenditure (respiratory chamber) measured in 320 nondiabetic Pimas was also 87 kcal/day lower in homozygotes for the Cys311-encoding allele when compared with those heterozygous and homozygous for the Ser311-encoding allele (P = 0.026). These findings are the first evidence that a genetic mutation is associated with reduced energy expenditure in humans. Because the impact of this mutation on human obesity is small, we suggest that either the energy deficit induced is not large enough to significantly influence body weight in this population and/or that the Cys311-encoding allele is also associated with reduced energy intake.
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PMID:A Ser311Cys mutation in the human dopamine receptor D2 gene is associated with reduced energy expenditure. 1128 60

Autonomic dysfunction in patients with Parkinson's disease has been recognized since the original description by James Parkinson in 1817. In the present case, an 80-year-old woman who had been diagnosed with Parkinson's disease 3 years earlier (Hoehn and Yahr stage III) was admitted with a few days history of lethargy and bradykinesia. She lived in a heated house and used an electric blanket at night. On examination, her core temperature was 29.7 degrees C. Her initial ECG showed sinus bradycardia, QT prolongation, and Osborn waves, which disappeared after rewarming. Successful rewarming was achieved with an external rewarming blanket over 12 hours. Follow-up ECG showed resolution of the Osborn waves. In Parkinson's disease, rapidly progressive hypothermia can occur in a well-heated house. Determining a rewarming strategy is a complex but not insurmountable task. In the elderly, the use of careful active external rewarming and a low stress strategy may be recommended.
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PMID:Hypothermia with Osborn waves in Parkinson's disease. 1936 59

A 57-year-old man presented with acute signs and symptoms mimicking PSP (bradykinesia, supranuclear ocular palsy, dysphagia, neck dystonia, and apraxic gait) on the day after a graft replacement surgery, which was performed for aortic arch aneurysm under deep hypothermic circulatory arrest (rectal temperature, 18 degrees C). Dysphagia improved temporarily, but relapsed after a few months. Symptoms did not change during 2 years of antiparkinsonian drug administration. Brain images obtained before the surgery revealed slight atrophy of the midbrain tegmentum and frontal lobes, but the patient was asymptomatic. No findings of cerebral vascular disease and hypoxic encephalopathy were observed on brain images after the surgery. These clinical features resembling PSP might have been caused by deep hypothermia and the patient's predisposition for PSP. This is the first case report in Japan of a syndrome resembling PSP that occurred after aortic arch replacement under deep hypothermic circulatory arrest.
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PMID:[A case of a syndrome resembling PSP after aortic arch replacement under deep hypothermic circulatory arrest]. 2138 99

A 69-year-old woman was admitted due to gradual progression of daytime sleepiness and forgetfulness over a period of approximately 1 month. Bradycardia and hypothermia were observed on admission, and neurological examination revealed memory disturbance, mild dysarthria, and bradykinesia. Fluid-attenuated inversion recovery (FLAIR) images of the brain magnetic resonance imaging (MRI) indicated signal hyperintensity in the region bordering the lateral and third ventricles. Serum anti-aquaporin 4 (AQP4) antibody was detected. The patient had no history or findings of optic neuritis or myelitis, and she was diagnosed as anti-AQP4 antibody-associated disorder. Diencephalon lesion and/or symptoms are rarely observed at the onset of neuromyelitis optica. Differential diagnosis of this disorder is necessary in cases manifesting diencephalon symptoms or involving lesions bordering the third ventricle without evidence of previous optic neuritis or myelitis.
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PMID:[Hypothermia and memory disturbance as initial manifestations associated with lesions of the diencephalon in a patient with anti-aquaporin 4 antibody-associated disorder: a case report]. 2514 37

We describe two patients with Parkinson's disease who presented with accidental hypothermia and review seven patients to delineate the characteristics of hypothermia. All cases of hypothermia occurred in the winter. As clinical symptoms preceding the onset of hypothermia, deterioration of bradykinesia or limb coldness was evident. Most cases of hypothermia were accompanied by impaired consciousness and deterioration of parkinsonian features. After warming the body, the hypothermia improved in a relatively short period. Levodopa, dopamine agonists or anticholinergic agents were given to five patients, three patients and three patients, respectively. Bradykinesia developed in most patients a short time before the onset of hypothermia. In various neurological diseases, deterioration of the disease can occur on the background of metabolic/electrolyte disturbance. However, the fact that the bradykinesia developed a short time prior to the onset of hypothermia warrants close observation for signs of temperature dysregulation in patients with substantial neurologic deterioration, especially in the winter.
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PMID:Accidental hypothermia in Parkinson's disease. 3039 1