Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UNIPROT:P01189 (beta-endorphin)
 21,003 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Opsoclonus-myoclonus syndrome (OMS) is a rare, autoimmune neurological disorder that is poorly recognized and undertreated. Neuroblastoma is found in one half of the cases. Because of the high incidence of spontaneous regression of neuroblastoma, it is unknown whether not finding a tumor means there was none. To define demographic trends and the standard of care in the first large series of OMS, 105 children were recruited over a 13-year period in a retrospective questionnaire survey. Children with and without a tumor differed little in viral-like prodrome and neurological symptoms. Earliest neurological symptoms were staggering and falling, leading to a misdiagnosis of acute cerebellitis. Later symptoms included body jerks, drooling, refusal to walk or sit, speech problems, decreased muscle tone, opsoclonus, and inability to sleep. Tumor resection alone did not provide adequate therapy for most. Adrenocorticotropic hormone (ACTH), prednisone, and intravenous immunoglobulin were used with equal frequency, but ACTH was associated with the best early response. More than one half of the children had relapses. Residual behavioral, language, and cognitive problems occurred in the majority. The delay in diagnosis (11 weeks) and initiation of treatment (17 weeks) is unacceptably long.
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PMID:Neuroepidemiologic trends in 105 US cases of pediatric opsoclonus-myoclonus syndrome. 1557 22

Patients may refuse, be unable to use, or show nonresponse to conventional steroid treatment of multiple sclerosis (MS) exacerbation. Adrenocorticotropic hormone (ACTH), one of several melanocortin peptides with mechanisms of action beyond steroidogenesis, should be reconsidered in the treatment of MS exacerbations. The current case report presents the treatment outcome of a patient with new-onset MS exacerbation treated with ACTH following lack of response to steroid treatment. A 49-year-old female presented with slurred speech, blurry vision, off-balance feeling, and possible left-sided mild internuclear ophthalmoplegia. Magnetic resonance imaging showed findings typical for primary demyelinating disease. Despite 5-day high-dose intravenous methylprednisolone treatment, the patient's symptoms worsened, including right-sided facial weakness, gait instability that required unilateral support, drooling, and new dorsal pontine white matter lesion on magnetic resonance imaging. Treatment with ACTH gel 80 U for 5 consecutive days resulted in patient functional improvement, including vision and gait. ACTH gel treatment stabilized disease progression, allowing the initiation of long-term disease-modifying treatment with monthly intravenous natalizumab. Effects of melanocortin signaling on immune function and inflammation beyond steroidogenesis provide a basis for understanding the clinical experience with ACTH gel treatment in patients with MS exacerbation.
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PMID:ACTH gel in the treatment of multiple sclerosis exacerbation: a case study. 2567 26