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Objective:To summarize the characteristics of autosomal recessive axonal neuropathy with neuromyotonia (ARAN-NM) caused by HINT1 gene mutation. Methods:Retrospective case summary.Clinical data of 2 Tibetan siblings diagnosed with ARAN-NM in the Department of Pediatrics of Peking University First Hospital in August 2023 were retrospectively analyzed.A review of literature reporting relevant Chinese patients was conducted.Results:The proband and her elder brother were aged 13 and 19, respectively.Both developed abnormal gait at the age of 11, followed by varus, claudication, and weak thumb strength.The proband also had neuromyotonia.Physical examinations showed that the proband and her elder brother had decreased muscle strength of the extremities, mainly in the thumbs and distal ends of lower limbs.The distal muscles of the proband′s lower extremities and the muscles of both hands of the proband′s elder brother were atrophied.Both feet showed talipes equinovarus in the proband and her elder brother.The proband′s electromyography (EMG) showed peripheral nerve injuries (motor and sensory axonal involvement, especially in distal ends) and myotonic potentials.The trio-whole exon sequencing detected homozygous pathogenic variation in HINT1 gene in both the proband and her elder brother, who were diagnosed as ARAN-NM based on c. 169A>G (p.K57E). After the Carbamazepine treatment, the proband′s neuromyotonia, numbness and weakness were relieved.Both the proband and her elder brother underwent orthopaedic surgery and rehabilitation.Their foot deformities and gait were significantly improved.Two Chinese literatures (2 patients) and four English literatures (8 patients) were retrieved.Including the proband and her elder brother in this study, there were 12 ARAN-NM patients, 10 of whom had clinical data.The ages of onset and diagnosis were 2-16 (1 case unknown) and 13-33 years old, respectively.Myasthenia was present in 9 patients, especially in distal ends.Eight patients were complicated with neuromyotonia, nine patients with muscle atrophy, seven patients with foot deformity, and two patients with sensory disturbance.Creatine kinase(CK) was elevated in all 9 patients tested or CK.EMG showed neurogenic injuries in all patients and neuromyotonia discharge in six patients.Three patients were treated with Carbamazepine, and some symptoms were relieved.Missense/nonsense mutations were found in the 12 patients, and the high-frequency variation was c. 112T>C (p.C38R). Conclusions:ARAN-NM is a rare autosomal recessive neuromuscular disease caused by HINT1 gene mutation.There is no ethnic difference in clinical manifestations, mainly distal limb weakness with neuromyotonia.Carbamazepine can alleviate some symptoms, and orthopaedic surgery can improve foot deformity and gait.
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Objective To investigate the role of hybrid bone grafting using autograft and freezedried allograft bone in restoration of acetabular bone defect,as well as to evaluate the clinical results of this grafting technique combined with acetabular scaffold in dealing with massive acetabular deficiency.Methods Between April 1999 to December 2007,18 patients (19 hips) underwent acetabular revision by using a mixture of autograft and allogenic freeze-dried cancellous bone particles plus acetabular scaffold.There were 8males and 10 females,aged from 33 to 76 years (average,64.7 years).The acetabular defects were caused by aseptic loosening of primary total hip arthroplasty in 17 patients and osteoarthritis secondary to osteotomy in 1 case of acetabular dysplasia.There were 5 cases of Paprosky Ⅱ B defect,2 Paprosky Ⅱ C defect,6 Paprosky ⅢA defect and 6 Paprosky ⅢB defect.Results All patients were followed up for 3.6 to 12.3 years (average,6.5 years).Harris hip score improved from preoperative 38.7±9.6 to 87.6±7.8 at final follow-up.According to X-rays,bone incorporation evidenced by trabecular bridging of the host-donor interface was found at 3to 6 months postoperatively,and effective bone incorporation was achieved in all cases one year postoperatively.Polyethylene wear occurred in one case.Acetabular component loosening was not found at final follow up.Conclusion Impacted bone grafting using a mixture of autograft and freeze-dried allograft bone can efficiently restore acetabular bone defect.Adding autograft bone to freeze-dried allograft bone is a highly effective way of achieving graft incorporation.Hybrid bone grafting technique with acetabulum scaffold is an attractive option for the treatment of extensive acetabular deficiency.
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[Objective]To refine operative indications of rotating hinge prostheses and report the medium term results of these implants,and to analyze the reasons for postoperative complications.[Method]From 1999 to 2007,42 Endo-Model(Link) rotating hinge prostheses were used in 34 patients.The cases were all gonarthrosis with severe genu varus,genu valgus or flexion contracture.Bone defect or instability was found in these cases before operation.The mean follow-up was 6.4 years(2.3-10.4 years).[Result]One case of deep infection,and one periprosthetic fracture were noted.And 3 cases of patella subluxation or tilt were detected by postoperative X-ray.All patients had excellent pain relief and restoration of walking capability.The average HSS score improved from 40.5 points to 89 points after surgery.[Conclusion]Besides being used in revision surgery,rotating hinge prostheses are indicated in primary arthroplasties for patients with severe ligament laxity,substantial deformity or bone losses.With appropriate indication selection and accurate operative skill,satisfactory medium term result can be obtained.