Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0024523 (malabsorption)
 7,319 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Patients with cystic fibrosis (C.F.) showed raised serum levels of alpha-fetoprotein (AFP). A moderate but significant increase in serum AFP was present in their parents and some siblings. There was no correlation between the clinical severity of the disease and serum AFP concentration. Samples from control groups with gluten-induced malabsorption and bronchiectasis had normal levels. Persistent synthesis of AFP may be an associated marker of C.F. genes, and estimation of serum AFP might help in detecting heterozygote carriers in families at risk.
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PMID:Serum alpha - fetoprotein levels in patients with cystic fibrosis and their parents and siblings. 4 79

Myoclonus can be classified as physiologic, essential, epileptic, and symptomatic. Animal models of myoclonus include DDT and posthypoxic myoclonus in the rat. 5-Hydrotryptophan, clonazepam, and valproic acid suppress myoclonus induced by posthypoxia. The diagnostic evaluation of myoclonus is complex and involves an extensive work-up including basic electrolytes, glucose, renal and hepatic function tests, paraneoplastic antibodies, drug and toxicology screens, thyroid antibody and function studies, neurophysiology testing, imaging, and tests for malabsorption disorders, assays for enzyme deficiencies, tissue biopsy, copper studies, alpha-fetoprotein, cytogenetic analysis, radiosensitivity DNA synthesis, genetic testing for inherited disorders, and mitochondrial function studies. Treatment of myoclonus is targeted to the underlying disorder. If myoclonus physiology cannot be demonstrated, treatment should be aimed at the common pattern of symptoms. If the diagnosis is not known, treatment could be directed empirically at cortical myoclonus as the most common physiology. In cortical myoclonus, the most effective drugs are sodium valproic acid, clonazepam, levetiracetam, and piracetam. For cortical-subcortical myoclonus, valproic acid is the drug of choice. Here, lamotrigine can be used either alone or in combination with valproic acid. Ethosuximide, levetiracetam, or zonisamide can also be used as adjunct therapy with valproic acid. A ketogenic diet can be considered if everything else fails. Subcortical-nonsegmental myoclonus may respond to clonazepam and deep-brain stimulation. Rituximab, adrenocorticotropic hormone, high-dose dexamethasone pulse, or plasmapheresis have been reported to improve opsoclonus myoclonus syndrome. Reticular reflex myoclonus can be treated with clonazepam, diazepam and 5-hydrotryptophan. For palatal myoclonus, a variety of drugs have been used.
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PMID:Myoclonus. 2149 98