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Maple syrup urine disease is a rare autosomal-recessive metabolic disorder caused by a deficit of oxidative decarboxylation of branched-chain amino acids. First symptoms appear in the neonatal period. Without treatment the disease is characterized by rapid progression of neurological symptoms. During stressful situations, such as infection or surgery, patients may experience severe ketoacidosis, rapid neurological deterioration and hypoglycemia. The perioperative management of a 26-year-old man with maple syrup urine disease is described, a review of the disease is given and anaesthesia-related implications are discussed. [ABSTRACT FROM AUTHOR]

Maple syrup urine disease is a rare autosomal-recessive metabolic disorder caused by a deficit of oxidative decarboxylation of branched-chain amino acids. First symptoms appear in the neonatal period. Without treatment the disease is characterized by rapid progression of neurological symptoms. During stressful situations, such as infection or surgery, patients may experience severe ketoacidosis, rapid neurological deterioration and hypoglycemia. The perioperative management of a 26-year-old man with maple syrup urine disease is described, a review of the disease is given and anaesthesia-related implications are discussed. [ABSTRACT FROM AUTHOR]

Background: In the last 20 years molecular biology has expanded the horizons of medical research including anaesthesia. Preoperative identification of genetic disorders relevant to anaesthesia or increased perioperative risk will be available in the near future using molecular biology techniques. There has been a global increase of such publications, but the contributions from Germany, Switzerland and Austria are unknown.Material and Methods: An internet-based medline search was used to analyse specific features such as year of publication, journal and origin of molecular biology articles produced by German, Swiss and Austrian anaesthesia institutions from 1988 to 2002.Results: During the study period 121 articles from German institutions were published, 18 from Switzerland and 5 from Austria, corresponding to 10%, 1.5% and 0.4%, respectively, of global publications. In Germany the number of anaesthesia publications with a molecular biology content has continuously increased, but in Switzerland and Austria the numbers have remained constant. The majority of articles were published in high-impact non-anaesthesia journals.Discussion and Conclusion: The results of this study show the quantitative development of molecular biology research that has been done in anaesthesia institutions in Germany, Switzerland and Austria from 1988 to 2002. A continuous increase of publications with a molecular biology content occurred only in Germany. [ABSTRACT FROM AUTHOR]

Shone's anomaly was first described in 1963 as a developmental complex of four potentially obstructive cardiac lesions including a supravalvular fibrous mitral ring, deformity of the mitral and/or subvalvular apparatus, subvalvular aortic stenosis and coarctation of the aorta. While paediatric patients with Shone's anomaly have been reported in the literature, only a few adult patients presenting with this anomaly have been described in the perioperative period. However, patients with an undiagnosed, incomplete form of Shone's anomaly might occasionally present for non-cardiac surgery as adults. In this case report we describe the anaesthetic management of an adult patient scheduled for a non-cardiac operation, who suffered from Shone's anomaly that was unrecognised prior to the operation. [ABSTRACT FROM AUTHOR]

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Copyright of Anaesthesist is the property of Springer Nature and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)