Background and purposeRhabdomyolysis is a medical emergency characterized by acute skeletal muscle breakdown with a sudden rise and subsequent fall of serum creatine kinase (CK) levels. Rhabdomyolysis events are provoked by exposure to external triggers, possibly in combination with an increased genetic susceptibility. We aimed to describe comprehensively the external triggers and potentially pathogenic genetic variants possibly implicated in increased rhabdomyolysis susceptibility.MethodsWe performed a retrospective single‐center study, including a total of 1302 patients with an acute CK level exceeding 2000 IU/l.ResultsAnoxia was the most frequently reported trigger (40%). A subset of 193 patients were clinically suspected of an underlying genetic disorder (recurrent episodes, a positive family history, very high or persistently increased CK levels). In 72 of these patients, an unequivocal genetic defect was identified. A total of 22 genes with pathogenic variants were identified, including 52 different variants. Of those, 11 genes have been previously associated with rhabdomyolysis (ACADVL, ANO5, CPT2, DMD, DYSF, FKRP, HADHA, PGM1, LPIN1, PYGM, RYR1). Eleven genes are probably implicated in increased susceptibility (including AGL, CAPN3, CNBP, DMPK, MAGT1, ACADM, SCN4A, SGCA, SGCG, SMPD1, TANGO2).ConclusionThese findings suggest that the spectrum of genetic susceptibility for rhabdomyolysis has not yet been completely clarified. With the increasing availability of next‐generation sequencing in a diagnostic setting, we expect that in more cases a genetic defect will be identified.

Purpose This report describes the development and validation process of an assessment with national consensus in appropriate and safe pharmacotherapy. Methods A question-database on safe prescription based on literature of pharmacotherapy-related harm was developed by an expert group from Dutch medical faculties. Final-year medical students concluded a 2-year education program on appropriate and safe prescription by one of nine assessment variants of 40 multiple-choice questions each. An expert panel of professionals (n = 10) answered all database questions and rated questions on relevance. Questions were selected for revision based on lack of relevance or poor test and item characteristics. Results A total of 576 final-year medical students of the Radboud University was assessed. There was no significant difference in performance between students and content expert group (p = 0.7), probably due to learning behavior. Out of 165 questions, 59 were selected for revision. Conclusion Joint national effort from a team of experts in prescription and pharmacotherapy is an appropriate way to achieve a valid and reliable last-year student drug prescription assessment.