Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0010200 (cough)
 23,843 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Dextromethorphan-containing cold/cough preparations are frequently prescribed and bought over the counter for use in children. Although generally considered safe, dextromethorphan has been shown to cause CNS side effects, including hyperexcitability, increased muscle tone, and ataxia. Two deaths have been reported with intentional dextromethorphan overdose. A literature review, brief review of pharmacology, and report of two cases of adverse reactions to dextromethorphan-containing preparations are presented.
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PMID:Toxicity with dextromethorphan-containing preparations: a literature review and report of two additional cases. 187 8

We introduced an intramuscular injection of botulinum toxin type A (hereafter, BTX-A) in 5 cases of cervical dystonia (CD) with generalized muscular hypertonia (GMH). The patients all had severe motor and intellectual disabilities (SMID). The initial injections (first and second) of BTX-A exerted a focal muscular relaxant effect in all 5 cases. It is interesting that they decreased hypertonia in the lower extremities, which resulted in an improved activity of daily living (ADL) in 4 cases (80%). This fact reveals the involvement of many muscles in regard to CD and GMH, especially in patients with severe cerebral palsy. As for adverse effects, a mild increase of saliva and cough indicated transient misswallowing in 2 cases (40%) and changes in the pattern of head movement and posture in 2 cases (40%). These effects were all mild and did not disturb ADL in any patient. BTX-A is considered to be safer and worthier of trying to decrease complaints related to CD and GMH than we expected. Furthermore, a modified Tsui's score cannot explain the many benefits from BTX-A in the treatment of SMID. For a reliable assessment of BTX-A therapy used to treat CD and GMH, especially in persons with SMID, more expressible and specific assessment methods will need to be established.
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PMID:[Initial efficacy of intramuscular injection of botulinum toxin type A against cervical dystonia and general muscular hypertonia in persons with severe motor and intellectual disabilities]. 1709 61

Adamowicz and colleagues raised the alert in 2007 about patients with atypical hereditary fructose intolerance (HFI) primarily misdiagnosed as CDG Ix. We describe a girl with neonatal hypertonia, facial trismus, absent swallowing and coughing reflexes, gastro-oesophageal reflux and sporadically elevated Krebs cycle metabolites and lactate. At 14 months microcephaly and hepatomegaly were noted, with hypertransaminasaemia but normal blood coagulation, glucose, phosphate, and absent urinary reducing substances. Neurological impairment persisted. Because of hepatic and neurological abnormalities with developmental delay, Tf IEF was performed and showed a severe type 1 pattern, resulting in a wrong diagnosis of CDG. Subsequently, an aversion to fruits suggested HFI, confirmed by the finding of ALDOB mutations (p.A150P/p.N335K). The girl improved with fructose-free diet, but liver cirrhosis led to hepatic transplantation. She is now 7 years old with good evolution; facial trismus and hypertonia reversed, but microcephaly persists. Transferrin MALDI-TOF MS characterization revealed underoccupation of glycosylation sites and glycan abnormalities, which reversed with dietary treatment. High maternal fructose concentrations might have caused neonatal abnormalities. Although in our patient's mother there is no fructose accumulation at present, it is possible that increased ingestion of fruits and vegetables during pregnancy, together with her heterozygosity, caused an accumulation of fructose that finally affected the fetus. We also describe slightly abnormal transferrin isoelectric focusing and MALDI-TOF MS patterns of intact transferrin and N-glycans in a fructose-1,6-bisphosphatase (FBP1)-deficient patient. While HFI is a well-known cause of secondary CDG, we found no reports of abnormal transferrin isoelectric focusing patterns in FBP1 deficiency and we introduce this condition as a possible secondary cause for altered transferrin isoelectric focusing.
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PMID:Secondary disorders of glycosylation in inborn errors of fructose metabolism. 1976 53