A case of early-onset spinocerebellar ataxia type 5 / 中华神经科杂志

Spinocerebellar ataxias are a high clinically and genetically heterogeneous group of neurodegenerative disorders, usually belongs to autosomal dominant hereditary cerebellar ataxia. Spinocerebellar ataxia type 5 (SCA5) is one of the extremely rare subtypes and caused by heterozygous mutation of SPTBN2 gene. A case of infant-onset SCA5 patient is reported, mainly manifested as global developmental delay, ataxia and dysarthria, carrying the heterozygous missense variant c.1438C>T (p. Arg480Trp) in the SPTBN2 gene. This mutation may have an important impact on functional regions of the β-Ⅲ spectrin, leading to the occurrence of disease.

Risk evaluation of failed internal fixation for intertrochanteric fracture / 中华骨科杂志

Objective To analyze and summarize the risk factors of failed internal fixation for intertrochanteric fracture.Methods From April 2008 to April 2011,267 patients with intertrochanteric fractures in 4 hospitals were treated with internal fixation.The relationship between the failure of internal failure and possible factors as age,gender,hypertension,diabetes,the abuse of alcohol and tobacco,use of glucocorticoid,the degree of osteoporosis and fractures type were studied.According to the surgical risk assessment table,the patients were divided into low-risk,mid-risk,and high-risk group.The rate of internal fixation failure was compared in the 3 groups.Results We found 42 cases which showed radiographic failures.The internal fixation failure directly related with advanced age,diabetes,severe osteoporosis,unstable type fracture,but not gender,hypertension,the abuse of alcohol and tobacco,use of glucocorticoid.Risk factors of internal fixation failure included diabetes,osteoporosis degree,and fracture stability.Failed intertrochanteric fracture fixation mainly occurred in the mid-risk and high-risk groups.Conclusion Severe osteoporosis,unstable fracture,diabetes are risk factors of failure of intertrochanteric fracture fixation.These factors will affect the quality of surgery.For the patient with intertrochanteric fractures in the low-risk groups,internal fixation should be the first choice for treatment.For the patients in the mid-risk and high-risk group,internal fixation should be applied cautiously.For the aged patients in high-risk groups,hip arthroplasty is a wise option.