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Query: UMLS:C0018099 (gout)
 5,192 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The Lesch--Nyhan syndrome is a heritable disorder of the metabolism of uric acid in which behavioral manifestations are prominent and among the most provocative. The mutated or variant gene that determines this disorder is carried on the X chromosome. The disease is expressed exclusively in males. The molecular expression of the abnormal gene is in the completely defective activity of the enzyme hypoxanthine guanine phosphoribosyl transferase. As a result these patients overproduce uric acid and may develop early in life many of the clinical findings we associate with gout. They have in addition a variety of neurological abnormalities including mental retardation, spastic cerebral palsy, and involuntary, choreoathetoid movements. Involved patients have unusual, compulsive, aggressive behavior. Its most prominent but by no means exclusive feature is self-mutilation. The central feature in the management of this behavior is physical restraint. A number of practical procedures have been learned which facilitate the care and feeding of these patients. Promising new findings suggest that behavioral modification using extinction techniques and pharmacologic methods utilizing agents designed to increase the effective cerebral content of serotonin may each have a place in the management of behavior in this syndrome.
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PMID:Behavior in the Lesch--Nyhan syndrome. 108 51

Recent studies have confirmed that gout is an inborn error of metabolism. It has now become evident that the hyperuricemia associated with gout might occur either due to overproduction of uric acid, underexcretion of uric acid or a combination of these processes. Furthermore, patients with excessive purine synthesis may have a specific enzyme defect resulting in altered feedback inhibition of purine synthesis. A neurological disease manifest by mental retardation, choreo-athetosis, aggressive behavior, lip-biting and self-mutilation and associated with decidedly increased purine biosynthesis serves as a prototype of this kind of disorder. Other defects in regulation of purine biosynthesis have been postulated but their existence not yet confirmed. It has been demonstrated that urate crystals which are deposited from hyperuricemic body fluids set up an acute inflammatory reaction by means of a variety of chemical mediators. Thus, acute gouty arthritis is now recognized as an example of "crystal induced" synovitis. The treatment of gout consists of (1) the control of acute gouty attacks, and (2) the maintenance of normal serum uric acid concentrations. This latter may be achieved either with uricosuric drugs or with xanthine oxidase inhibition. With these principles in mind, it is now possible to avoid many of the severe crippling effects of gout and to restore the vast majority of gouty patients to useful and productive lives.
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PMID:Current concepts of hyperuricemia and gout. 577 83

Three types of group A streptococcal infections are particularly feared: necrotizing fasciitis, myositis, and streptococcal toxic shock syndrome (TSS). We present 3 cases of necrotizing fasciitis due to Streptococcus pyogenes, one in an immunocompromised patient who had received kidney transplant and 2 healthy patients. Mean age of patients was 52 years (range, 42-67 years), and all 3 were male. One spontaneous case in absence of any obvious portal of entry is reported. The clinical course was initially indolent but quickly destructive. All patients required emergency surgical debridement and intravenous antibiotics. In 2 cases, intravenous immunoglobulin therapy was added. Differential diagnoses include septic arthritis, cellulitis, gout, other causes of tenosynovitis, erysipelas, and deep vein thrombosis.Blood and soft-tissue cultures should be obtained to identify the bacteria, and emergency computed tomography or magnetic resonance imaging scan should be performed to confirm the diagnosis and define the extension of the necrosis. Aggressive surgical debridement in the first 24 to 48 hours and antibiotic treatment, including penicillin and clindamycin, are the cornerstones in the management of these infections. Adjuvant intravenous immunoglobulin therapy might be useful in case of TSS. Diagnostic and treatment delays are the main causes of mortality in these infections.
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PMID:Necrotizing fasciitis and myositis caused by streptococcal flesh-eating bacteria. 2108 16