Objective To report the clinical,myopathological and genetic features of a patient with distal myopathy caused by caveolin-3 (CAV3) deficiency.Methods The patient was a 27-year-old female.She had an onset symptom of asymmetric lower extremities weakness.The proximal limb-girdle muscles were involved subsequently.Clinical data of this patient were collected.The leg muscle magnetic resonance imaging (MRI) and an open biopsy of left tibialis anterior muscle were performed.In addition to histological,enzyme histochemical staining and ultrastructural examination,immunohistochemical staining with antibody against CAV3 was done.CAV3 gene was analyzed in the patient and her parents.Results Tl-weighted enhanced skeletal muscle MRI of the lower limbs showed the abnormal signal in distal and proximal muscles.Muscle biopsy showed moderate dystrophic changes and immunostaining for CAV3 showed reduced plasmalemma in the muscle fibers.Gene analysis disclosed a heterozygous c.136G ＞ A (p.Ala46Thr)mutation in the CAV3 gene,and the patient's parents did not have this mutation.Conclusions We report a distal myopathy case caused by c.136G ＞ A (p.Ala46Thr) mutation in the CAV3 gene,who had an onset symptom of asymmetric lower extremities weakness.The proximal limb-girdal muscles were also involved.This would help clinical doctors to know more about this rare myopathy.

Objective To investigate the effect of radial artery calcification (RAC) on survival of arteriovenous fistula (AVF) and the patients in end?stage renal disease. Methods Adult ESRD patients undergoing AVF surgery between January 2013 and January 2016 at the Eighth Affiliated Hospital of Sun Yat?sen University were enrolled in this study. The clinical and biochemical data were collected. Segment of radial artery were obtained from the operation of AVF. RAC at the site of anastomotic were observed by alizarin red S and hematoxylin and eosin staining. According to RAC, the patients were divided into calcification group and non?calcification group. Kaplan?Meier analysis was performed to analyze the survival rates of the two groups, and Cox proportional hazards regression——model was used to estimate the risk factors of AVF dysfunction and all?cause mortality in ESRD patients. Results Among 180 cases of ESRD patients, 38 cases (21.1％) were developed RAC at the site of anastomotic in different degrees. Compared with the non?calcification groups, the calcification groups had a longer dialysis vintage, a higher proportion of diabetes and higher level of HbAlc (all P﹤0.05). Binary logistic regression analysis showed that dialysis vintage>5 years and diabetics were two independent risk factors of RAC at the site of anastomotic. Kaplan?Meier survival analysis demonstrated that there were no statistical differences between two groups in AVF survival (χ2=0.009, P=0.926). Calcification group had higher all?cause mortality than non?calcification groups (χ2=9.809, P=0.002). Multivariate Cox regression analysis demonstrated that homocysteine was independent risk factor for AVF dysfunction (HR=1.027, 95％CI: 1.003-1.051, P=0.027). Age was independent risk factor for all?cause mortality (HR=1.078, 95％CI: 1.035-1.122, P=0.000). Conclusions Dialysis vintage>5 years and diabetes were two independent risk factors of RAC at the site of anastomotic in ESRD patients. RAC at the site of anastomotic had no effect on AVF survival, but increased all?cause mortality.