Evaluation of radial nerve continuity early after humeral shaft fracture fixation using high-resolution nerve ultrasonography: a pilot study of feasibility.

BACKGROUND: This study evaluated the feasibility and reliability of high-resolution ultrasonography (HRUS) of the radial nerve in the early, postoperative period after operative stabilization of humeral shaft fractures. METHODS: This study enrolled patients between September 2015 and April 2018 with a humeral shaft fracture who were assessed with HRUS within 2 weeks after surgery. Based on the ultrasound artifacts, the examiners subjectively defined quality of ultrasound as "bad" or "good." The cross-sectional area of the radial and the posterior interosseous nerve was recorded at predefined locations. The radial nerve was scanned axially in the whole course to identify nerve continuity. RESULTS: Of 44 patients who underwent operations for humeral shaft fracture, HRUS was used to assess 15 patients at an average 4.8 ± 2.6 days (range, 2-11 days) after surgery. The examiners defined ultrasound quality as "good" in 13 of 15 patients (~87%). Primary radial nerve palsy (RNP) was identified in 3 of the 15 patients, and 4 sustained secondary RNP. Nerve continuity was demonstrated by HRUS in every patient. In patients with RNP, nerve continuity was secondarily confirmed by surgical exploration or functional and electrophysiological recovery. CONCLUSION: Early postoperative HRUS of the radial nerve after osteosynthesis of humeral shaft fractures is a feasible and reliable method to identify radial nerve continuity. In case of pathology, this assessment tool can additionally provide valuable information concerning location and etiology of the RNP.

Multicentric carpotarsal osteolysis is caused by mutations clustering in the amino-terminal transcriptional activation domain of MAFB.

Multicentric carpotarsal osteolysis (MCTO) is a rare skeletal dysplasia characterized by aggressive osteolysis, particularly affecting the carpal and tarsal bones, and is frequently associated with progressive renal failure. Using exome capture and next-generation sequencing in five unrelated simplex cases of MCTO, we identified previously unreported missense mutations clustering within a 51 base pair region of the single exon of MAFB, validated by Sanger sequencing. A further six unrelated simplex cases with MCTO were also heterozygous for previously unreported mutations within this same region, as were affected members of two families with autosomal-dominant MCTO. MAFB encodes a transcription factor that negatively regulates RANKL-induced osteoclastogenesis and is essential for normal renal development. Identification of this gene paves the way for development of novel therapeutic approaches for this crippling disease and provides insight into normal bone and kidney development.