6 resultados para 56

em BORIS: Bern Open Repository and Information System - Berna - Suiça


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We present a case of a pathologic humerus fracture in a patient with the initial diagnosis of Gaucher's disease, which is the most frequent form of lipidosis transmitted as an autosomal recessive trait. It often results in orthopaedic complications with pain, osteonecrosis, fractures and joint infractions. If there is cause for suspicion, beta-glucocerebrosidase in white blood cells should be measured because of the important consequences for treatment. Therapy with a modified enzyme is effective in managing the disease.

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BACKGROUND New psychoactive substances (NPS) have become increasingly prevalent and are sold in internet shops as 'bath salts' or 'research chemicals' and comprehensive bioanalytical methods are needed for their detection. METHODOLOGY We developed and validated a method using LC and MS/MS to quantify 56 NPS in blood and urine, including amphetamine derivatives, 2C compounds, aminoindanes, cathinones, piperazines, tryptamines, dissociatives and others. Instrumentation included a Synergi Polar-RP column (Phenomenex) and a 3200 QTrap mass spectrometer (AB Sciex). Run time was 20 min. CONCLUSION A novel method is presented for the unambiguous identification and quantification of 56 NPS in blood and urine samples in clinical and forensic cases, e.g., intoxications or driving under the influence of drugs.