Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0026827 (hypotonia)
5,860 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Authors present some of their results from an epidemiological study on the effect of fenitrothion (Metation EK-50) on the organism of occupationally exposed workers in the production of this preparation and in female workers in the packing room during a 5-year period. The results of clinical examinations pointed to parasympathetic stimulation and disposition to hypotonia. Neurological and psychiatric findings revealed a low-grade pseudoneurasthenic syndrome in 33% of females and in 15% of males. The results of psychodiagnostic tests after the exposure to fenitrothion and its intermediate products showed partial deterioration of retention, impairment of visuomotor coordination of movements in tapping and that or orientation readiness, prolonged average time of decision-making and prolonged average reaction time for complex sensorimotor responses. From among the biochemical parameters after the exposure to fenitrothion the following ones can be mentioned: inhibition of cholinesterase in blood, increase of GPT transaminase, increase of insoenzyme LDH5 and changes in protein fractions, as statistically significant (P less than 0,001). The values of excreted p-nitro-m-cresol (NC) in urine in males after the exposure to fenitrothion were 5,61 mg/l on the average, compared with the average value of 1,54 mg NC/l before exposure. The average values of excreted NC in urine in females involved in bottling Metation were those of 4,0 mg NC or 6,58 mg NC/l of urine after exposure. The concentration of fenitrotrion in the air of the working space ranged from 0,028 to 0,118 mg X m-3. From the values of the excreted NC in urine in the exposed workers and in volunteers, to whom fenitrothion was administered in the doses of 2,5 to 20 mg, it can be judged that the organism of exposed workers received approximately 15 mg of fenitrothion per capita a day and those of exposed females 20 mg or more per capita a day.
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PMID:Clinical and laboratory findings in Metation EK-50. 681 74

A case of deletion of the short arm of chromosome 3 (46,XY,del(3)(p253) is described. The patient is a youth of 18 years in an institution for the mentally retarded. Phenotypically, he presents congenital heart disease, hypertelorism, ptosis, epicanthus, blepharophimosis, strabismus, nystagmus, synophrys, low-set ears, frequent infections, epilepsy (abnormal EEG and grand mal seizures), "rocker bottom" feet, flat occiput and muscular hypotonia. The parents are healthy and with normal karyotypes. A silent allele in the GPT system was found in the mother, the propositus and 4 of the 5 siblings.
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PMID:Partial deletion of the short arm of chromosome 3. 722 94