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)

The antipyretic effect of single doses of alpha-methyl-4-(2-thienylcarbonyl)-phenyl acetic acid (suprofen, Suprol) syrup, administered at dose levels of 1, 2, 3, 4, 5, 7.5, and 10 mg/kg b.w., was tested in a randomized double-blind and a subsequent open study. The test populations consisted of 100 children in the double-blind study and 40 patients in the open test (20 subjects/group). The patients' age ranged from 2 to 12 years; the lowest initial rectal temperature was 39.0 degrees C. The treatment groups were homogeneous as to demographic data. The temperature was reduced in all treatment groups. In the double-blind study the mean value dropped under the subfebrile threshold of 38.0 degrees C only in the group on 5 mg/kg and remained then constant for up to 6 h following administration. No sufficient antipyretic effect was obtained with lower doses. The results of the additional open study with doses of 7.5 and 10 mg/kg indicated good antipyretic effect. This effect was not, however, superior to that obtained with 5 mg/kg. Pulse and respiratory rates returned to normal within 1.5 h following administration, except in patients on 1 mg/kg. A total of 10 patients, homogeneously distributed in the treatment groups, experienced vomiting as an adverse reaction. Short-term hypotonia was seen in one subject on 7.5 mg/kg. The results obtained show that single doses of suprofen upward of 5 mg/kg b.w. exert satisfactory, long-lasting, antipyretic effect on children.
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PMID:Clinical experience and results of treatment with suprofen in pediatrics. 1st communication: Suprofen dosage for children/An open and a double-blind study with suprofen syrup. 391 61

Beta-ketothiolase deficiency is a rare autosomal recessive disorder characterized by an inborn error of isoleucine catabolism and affecting ketone body metabolism. Clinical features characterized by intermittent keto acidotic episodes are associated with clinical signs and symptoms of toxic encephalopathy such as lethargy, hypotonia, vomiting, tachypnea, and coma in some patients, with an onset during infancy or toddler-hood. A two months old girl presented to pediatric ward of Imam Reza Hospital in Mashhad City, Northwestern Iran in October 2016, with acute episode of fever and toxic encephalopathy with attack of vomiting, hypotonia, lethargy, tonic-clonic seizures and then a day in coma, few days after vaccination. After then similar episodes happened until 7 months age. Bio chemical tests that suggested diagnose of beta ketothiolase deficiency were attacks of ketoacidosis with urinary exertion of 2-methyl-3-hydroxybutyric acid 2-methyl aceto acetic acid tiglylglycine. In genetic assessment, we detected a novel homozygous mutation c.664A> C (p. Ser 222 Arg) in ACAT gene. This is the first report of beta ketothiolase deficiency confirmed by molecular analysis from Iran. We report on a homozygous variant in the ACAT1 gene and that is a novel mutation. We recommended carrier testing for all informative family members to recognize mutations in asymptomatic family members.
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PMID:A Novel Mutation of Beta-ketothiolase Deficiency: The First Report from Iran and Review of Literature. 3002 75