Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0917801 (insomnia)
 10,606 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Thirty-two patients with various severe or selected dermatoses were chosen for treatment with cortisone acetate by mouth. The criteria for selection included refractoriness to previous therapy and absence of ascertainable contraindications. The initial dose of cortisone acetate varied between 100 and 200 mg. per day. The dose was reduced as quickly as each patient's response permitted, with the object of reaching the lowest effective dose as quickly as possible. Response of most patients to the hormone was dramatic, with abatement of symptoms within 24 hours and substantial improvement of clinical signs within 24 to 48 hours. Details of the results are tabulated. Adverse effects, possibly attributable to the hormone, were noted in five patients. In two instances, moon facies developed, one with hypertrichosis and a 20-lb. (9.1-kg.) gain in weight. However, both of these patients had received corticotropin (ACTH) prior to the cortisone. A third patient showed hyperpigmentation of the areas of skin usually exposed and not covered by clothing. Two additional patients each complained of hyperexcitability and insomnia. All these undesirable effects diminished or disappeared after the dose was reduced or administration of cortisone was discontinued. The effectiveness of this new therapeutic approach in a wide variety of skin diseases is clearly demonstrated by the excellent response noted in this series of selected cases. No other modality known to us has comparable beneficial effects. It is to be stressed, however, that the benefits generally stop soon after cortisone therapy is discontinued, unless the disease or the attack is one with spontaneous remissions. Disagreeable and sometimes dangerous effects still preclude the use of this treatment except in serious diseases and situations, and unless the patient can be kept under sufficiently close and expert surveillance.
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PMID:Centennial Paper. November 1951 (Arch Dermatol Syphilol: Cortisone acetate administered orally in dermatologic therapy by Marion B. Sulzberger, Victor H. Witten and Stanley N. Yaffe. 635 55

Bohring-Opitz syndrome is a rare genetic condition characterized by distinctive facial features, variable microcephaly, hypertrichosis, nevus flammeus, severe myopia, unusual posture (flexion at the elbows with ulnar deviation, and flexion of the wrists and metacarpophalangeal joints), severe intellectual disability, and feeding issues. Nine patients with Bohring-Opitz syndrome have been identified as having a mutation in ASXL1. We report on eight previously unpublished patients with Bohring-Opitz syndrome caused by an apparent or confirmed de novo mutation in ASXL1. Of note, two patients developed bilateral Wilms tumors. Somatic mutations in ASXL1 are associated with myeloid malignancies, and these reports emphasize the need for Wilms tumor screening in patients with ASXL1 mutations. We discuss clinical management with a focus on their feeding issues, cyclic vomiting, respiratory infections, insomnia, and tumor predisposition. Many patients are noted to have distinctive personalities (interactive, happy, and curious) and rapid hair growth; features not previously reported.
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PMID:Clinical management of patients with ASXL1 mutations and Bohring-Opitz syndrome, emphasizing the need for Wilms tumor surveillance. 2592 Oct 57