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

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.
 ...
PMID:Myoclonus. 2149 98

Despite many recent advances, the management of patients with Cushing's disease continues to be challenging. Cushing's syndrome is a complex metabolic disorder that is a result of excess glucocorticoids. Excluding the exogenous causes, adrenocorticotropic hormone-secreting pituitary adenomas account for nearly 70% of all cases of Cushing's syndrome. The suspicion, diagnosis, and differential diagnosis require a logical systematic approach with attention paid to key details at each investigational step. A diagnosis of endogenous Cushing's syndrome is usually suspected in patients with clinical symptoms and confirmed by using multiple biochemical tests. Each of the biochemical tests used to establish the diagnosis has limitations that need to be considered for proper interpretation. Although some tests determine the total daily urinary excretion of cortisol, many others rely on measurements of serum cortisol at baseline and after stimulation (e.g., after corticotropin-releasing hormone) or suppression (e.g., dexamethasone) with agents that influence the hypothalamic-pituitary-adrenal axis. Other tests (e.g., measurements of late-night salivary cortisol concentration) rely on alterations in the diurnal rhythm of cortisol secretion. Because more than 90% of the cortisol in the circulation is protein bound, any alteration in the binding proteins (transcortin and albumin) will automatically influence the measured level and confound the interpretation of stimulation and suppression data, which are the basis for establishing the diagnosis of Cushing's syndrome. Although measuring late-night salivary cortisol seems to be an excellent initial test for hypercortisolism, it may be confounded by poor sampling methods and contamination. Measurements of 24-hour urinary free-cortisol excretion could be misleading in the presence of some pathological and physiological conditions. Dexamethasone suppression tests can be affected by illnesses that alter the absorption of the drug (e.g., malabsorption, celiac disease) and by the concurrent use of medications that interfere with its metabolism (e.g., inducers and inhibitors of the P450 enzyme system). In this review, the authors aim to review the pitfalls commonly encountered in the workup of patients suspected to have hypercortisolism. The optimal diagnosis and therapy for patients with Cushing's disease require the thorough and close coordination and involvement of all members of the management team.
...
PMID:Pitfalls in the diagnosis and management of Cushing's syndrome. 2563 22