Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0023380 (lethargy)
 5,697 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

An 18-month-old Quarter Horse gelding was examined because of weight loss and dysphagia of 1 month's duration. Clinical signs included lethargy, dehydration, ptyalism, and probable aspiration pneumonia. Severe dyspnea and cyanosis were evident after mild exercise. Endoscopy revealed laryngospasm and pharyngospasm. Because clinical signs and endoscopic findings were suggestive of hyperkalemic periodic paralysis (HPP), acetazolamide treatment was instituted. Marked improvement was observed within 48 hours. The horse was determined to be homozygous for HPP. It is likely that this horse's dysphagia, with resultant weight loss and aspiration pneumonia, were clinical manifestations and consequences of HPP. Regardless of age and serum potassium concentration, HPP should be considered as a differential diagnosis for pharyngeal and laryngeal abnormalities and dysphagia in horses with Quarter Horse breeding.
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PMID:Laryngospasm, dysphagia, and emaciation associated with hyperkalemic periodic paralysis in a horse. 892 91

Many important aspects of our life are regulated by the free cytosolic Ca2+ concentration. The intracellular Ca2+ signal is regulated both in space, frequency and amplitude. Each cell chooses a unique set of Ca2+ signals to control its function. Ca2+ signal transduction is based on rises in free cytosolic Ca2+ concentration. Ca2+ can come from the extracellular space or be released from intracellular stores. Extracellular Ca2+ enters the cell through various types of plasma-membrane Ca2+ channels and leaves the cell using Ca2+ pumps and Na+/Ca(2+)-exchangers. Ca2+ is accumulated in intracellular stores by means of Ca2+ pumps and is released via inositol 1,4,5-trisphosphate (IP3) and ryanodine receptors. Mutations or abnormalities in one of the above mentioned Ca(2+)-transporting proteins can lead to disease. Skeletal-muscle pathology can be caused by abnormal ryanodine receptors (malignant hyperthermia, porcine stress syndrome, central core disease), plasma-membrane Ca2+ channels (hypokalemic periodic paralysis, muscular dysgenesis mice, paraneoplastic Lambert-Eaton myasthenia syndrome) or Ca2+ pumps (Brody disease). Neurologic disorders can be related to altered function of plasma-membrane Ca2+ channels (episodic ataxia type 2, spinocerebellar ataxia type 6, familial hemiplegic migraine, glutamate excitotoxicity, tottering, leaner, lethargic and stargazer mice), IP3 receptors (Lowe's oculocerebrorenal syndrome, manic depression, Alzheimer's disease, opisthotonos mice) and Ca2+ pumps (deafwaddler mouse and wriggle mouse sagami). Two skin diseases are caused by Ca(2+)-pump mutations (Darier disease and Hailey-Hailey disease). Incomplete X-linked congenital stationary night blindness is caused by a mutation in the plasma-membrane Ca2+ channels in rods and cones.
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PMID:[Intracellular calcium: physiology and physiopathology]. 1119 78