MedGenMed : Medscape general medicine
-
Letter Case Reports
Refractory iron deficiency anemia--is Helicobacter pylori the culprit?
-
Practice Guideline Guideline
Expert commentary--evidence-based guidelines for the treatment of irritable bowel syndrome in North America.
-
Hermansky-Pudlak syndrome (HPS) is an autosomal recessive inherited disease consisting of (1) partial oculocutaneous albinism (with nystagmus, strabism, and visual acuity loss), (2) platelet storage pool deficiency (with bleeding diathesis), and (3) disorder of "ceroid" metabolism with a multisystem tissue lysosomal ceroid deposition. HPS is less uncommon in Puerto Rico, where the most important studies have been performed, but is a very rare disease in Europe. HPS basic defect remains unknown, even if an HPS-causing gene was identified in chromosome segment 10q23-q23.3, and several mutations have been reported. ⋯ It seems that in our patients, an overlapping of the phenotypic manifestations of different rare syndromes may be present. The presence of ceroid-like autofluorescent material in urinary sediment together with the histologic aspects and the autofluorescence of oral mucosa biopsy are consistent with a ceroid-like lipofuscin storage. HPS should be carefully tested for in suspected cases to prevent the severe visual impairment, rapidly progressive pulmonary fibrosis, and other complications associated with this disorder.
-
Valproic acid (VPA) is available as an antiepileptic therapy and has been used to treat bipolar disorder and migraine headaches. Reports to poison centers of VPA exposures have increased over the last few years, and there have been concerns about delayed toxicity after an overdose of VPA. We report a case of a woman with acute overdose of VPA who developed many of the complications commonly associated with the medication and review the current options available for treatment. There are many clinical manifestations of VPA overdose that are characteristic for the drug.