This retrospective study assessed the results of treatment of 29 cases of hypothenar hammer syndrome and two cases of thenar hammer syndrome. Three hands were symptom free, 15 were improved, 11 were unchanged and two were worse at a mean follow-up of 43 (range 4-60) months. Follow-up colour-coded Duplex sonography of revascularizations (n=27) revealed 13 patent, five occluded and one partially thrombosed grafts, seven grafts with aneurysmal dilatations and one coiled graft. Colour-coded Duplex sonography results after venous interposition graft combined with endoscopic thoracic sympathectomy were no better than venous interposition graft alone. All three arterial interposition grafts and two end-to-end-reconstructions were patent. The Duplex outcomes of the revascularizations did not correspond well with the clinical outcomes. Endoscopic thoracic sympathectomy was associated with a high rate of inconvenient side effects.
Before surgery for Dupuytren's contracture, 54 patients with a proximal interphalangeal (PIP) joint flexion contractures of at least 30° were randomized to receive either a 3-month splinting protocol together with hand therapy under the direct supervision of hand therapists, or the same hand therapy alone. Extension deficit of the PIP joint (primary outcome measure), global perceived effect, pain intensity, comfort and complications were assessed at baseline and 1 year after surgery. In an intention-to-treat analysis, the group assigned to splint-plus-hand therapy had a mean reduction of 21° in flexion contracture after 1 year, compared with 29° in the group receiving hand therapy alone (p = 0.1). There was no difference between the groups regarding other parameters. After operative release of a Dupuytren's contracture, a postoperative protocol using a splint and hand therapy was no better than hand therapy alone in minimizing postoperative flexion contractures.
The natriuretic peptide signaling pathway has been implicated in many cellular processes, including endochondral ossification and bone growth. More precisely, different mutations in the NPR-B receptor and the CNP ligand have been identified in individuals with either short or tall stature. In this study we show that the NPR-C receptor (encoded by NPR3) is also important for the regulation of linear bone growth. We report four individuals, originating from three different families, with a phenotype characterized by tall stature, long digits, and extra epiphyses in the hands and feet. In addition, aortic dilatation was observed in two of these families. In each affected individual, we identified a bi-allelic loss-of-function mutation in NPR3. The missense mutations (c.442T>C [p.Ser148Pro] and c.1088A>T [p.Asp363Val]) resulted in intracellular retention of the NPR-C receptor and absent localization on the plasma membrane, whereas the nonsense mutation (c.1524delC [p.Tyr508]) resulted in nonsense-mediated mRNA decay. Biochemical analysis of plasma from two affected and unrelated individuals revealed a reduced NTproNP/NP ratio for all ligands and also high cGMP levels. These data strongly suggest a reduced clearance of natriuretic peptides by the defective NPR-C receptor and consequently increased activity of the NPR-A/B receptors. In conclusion, this study demonstrates that loss-of-function mutations in NPR3 result in increased NPR-A/B signaling activity and cause a phenotype marked by enhanced bone growth and cardiovascular abnormalities.
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