Exon Skipping in a Dysf-Missense Mutant Mouse Model.

Limb girdle muscular dystrophy 2B (LGMD2B) is without treatment and caused by mutations in the dysferlin gene (DYSF). One-third is missense mutations leading to dysferlin aggregation and amyloid formation, in addition to defects in sarcolemmal repair and progressive muscle wasting. Dysferlin-null mouse models do not allow study of the consequences of missense mutations.

Risk-prediction tool for identifying hospitalized children with a predisposition for development of venous thromboembolism: Peds-Clot clinical Decision Rule.

Background: The prevalence of VTE is increasing in tertiary pediatric hospitals. Identification of high-risk populations using uniform criteria is required to develop evidence-based VTE prevention guidelines.

Objective: To develop a VTE risk prediction rule, the Peds-Clot clinical Decision Rule (PCDR), to identify high-risk children who were at increased risk of developing VTE.