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The technique of homozygosity mapping is employed for the identification of different mutations in the LP1N1 gene that cause recurrent, massive and acute myoglobinuria in childhood. Such recurrent rhabdomyolysis is shown to be caused by the different errors of glycogenolysis and oxidative phosphorylation.

Background: The management of aspirin therapy before an invasive procedure poses a frequent clinical dilemma due to uncertainty regarding bleeding versus thromboembolic risks associated with continuation or withdrawal of the drug. There are no evidence-based data to refer to., Objectives: To assess the opinions of internal medicine physicians regarding aspirin therapy prior to an invasive procedure., Methods: A questionnaire presenting nine hypothetical cases with different combinations of bleeding and thromboembolic risk was given to physicians in an internal medicine division during a personal interview. For each case the participants had to choose between withdrawal of aspirin prior to an invasive procedure, continuation of aspirin, or substitution of low molecular weight heparin for aspirin., Results: Sixty-one physicians participated in the survey. For a patient with low thromboembolic risk, 77% (95% confidence interval 65.3-86.3%), 95% (87.2-98.7%) and 97% (89.6-99.5%) of physicians elected to discontinue aspirin prior to a low, intermediate or high bleeding risk procedure, respectively. For intermediate risk patients, 23% (95% CI 13.7-34.7%), 59% (46.4-70.8%) and 74% (61.7-83.6%) would discontinue aspirin prior to a low, intermediate or high risk procedure, and 5% (95% CI 1.3-12.8%), 23% (13.7-34.7%) and 18% (9.9-29.2%) would substitute LMWH for aspirin. For a patient with high thromboembolic risk, 1.6% (95% CI 0.08-7.8%), 11.5% (5.2-21.4%) and 18% (9.9-29.2%) recommended discontinuing aspirin prior to a low, intermediate or high risk procedure, respectively. In these situations, 18% (95% CI 9.9-29.2%), 53% (40.0-64.7%) and 57% (44.8-69.3%), respectively, would substitute LMWH for aspirin., Conclusions: The results of the current investigation may help practicing physicians to decide whether to discontinue aspirin therapy prior to invasive procedures. The possible use of LMWH to replace aspirin as suggested here should be further evaluated in a controlled clinical study.