Objective To explore the efficacy of operative treatment on the traumatic carpal instability. Methods Sixty-four cases of traumatic carpal patients were randomly divided into the control group which were treated by the tradi-tional manual reduction plaster and the experimental group by operative treatment in our hospital. The two group ap-plied X-ray to determine the disease of carpal instability and the scoring system of Mcbride to assess the restoration in wrist function. Results The total effective rate of the carpal instability in the experimental group was significantly lower 25% than the control group after surgery (P<0.05), while the total effective rate of the experimental group was higher 21.88% than the control group in wrist function recovery (P<0.01). Conclusion The clinical effect of surgery in treat-ment of the traumatic carpal instability is excellent.

Objective To investigate the clinical manifestations, genetic basis and related literatures of Boucher-Neuh(a)user syndrome(BNS), hoping to help physicians recognize this rare disease. Methods A 25-year-old BNS patient was reported.The clinical manifestations and the laboratory data including fundus examination, blood testing, brain MRI and genetic data were summarized.The related literatures were also reviewed.Results The patient presented with tremors, ataxia, secondary sexual characteristics dysplasia,epilepsy, and then got worse progressively.Brain MRI showed severe cerebellar atrophy.Two mutations of PNPLA6 gene were found: one is the heterozygous mutation c.1811C >T (p.A604V),which has not been reported;another is c.2990C>T(p.S997L),which has been reported as a pathogenic mutation related to BNS.Conclusion PNPLA6-related BNS may be considered for adolescent patients with tremor and ataxia,secondary sexual characteristics dysplasia and epilepsy.