Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0027066 (myoclonus)
 4,275 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Pruritus that interferes with sleep is generally diagnosed as having an organic rather than a psychogenic basis. We compared the dermatologic and psychosocial parameters of 79 inpatients with psoriasis with moderate to severe pururitus with (W group; n = 46) and without (NW group; n = 33) wakenings from sleep in association with pruritus. At the time of the patients' admission, compared with the NW group the W group had more severe depressive psychopathologic features (p less than 0.05); were possibly alcoholic, according to behavioral criteria for alcoholism (p less than 0.005); reported a higher daily alcohol consumption (p less than 0.05); and had symptoms suggestive of periodic movements in sleep, or nocturnal myoclonus (p less than 0.05), a sleep physiologic disorder. The two groups did not differ with respect to pruritus severity or other dermatologic parameters at the time of admission or during inpatient treatment. Contrary to the generally accepted criterion for the organicity of pruritus, psychiatric and possibly sleep pathologic factors rather than primary dermatologic factors determined the wakenings from sleep as a result of pruritus.
J Am Acad Dermatol 1989 Sep
PMID:Pruritus associated with nocturnal wakenings: organic or psychogenic? 227 91

Galactosialidosis is a lysosomal storage disease associated with a combined deficiency of beta-galactosidase and neuraminidase, caused by a defect of another lysosomal protein, the protective protein. Three subtypes are recognized: the early infantile form, the late infantile form and the juvenile/adult form. We saw a patient with galactosialidosis of the juvenile/adult form, a 51-year-old Japanese man with angiokeratomas on both elbows and knees, myoclonus, ataxia, mental retardation and macular cherry-red spots. An electron-microscopic study of a skin biopsy showed membrane-limited vacuoles in the cytoplasm of the endothelial cells, pericytes and fibroblasts. Assays of enzymatic activity in cultured fibroblasts showed a marked decrease in both beta-galactosidase and neuraminidase (sialidase). The substance contained in the cytoplasmic vacuoles appears to be glycoproteins with sialic acid, which is a terminal glycosyl residue, because the cytoplasm of the endothelial cells of the vessels and pericytes are stained by the Limax flavus agglutinin, a lectin that binds specifically with sialic acid. This technology may be useful for easy investigation of the distribution of the accumulation of such substances in the central nervous system.
Br J Dermatol 2003 Aug
PMID:A case of galactosialidosis. 1293 52