Objective To report the clinical,pathological,and genetic mutation characteristics of a family with spinocerebellar ataxia type 3(SCA3).Methods A retrospective analysis was conducted on the clinical features of multiple affected members in this family,and the latest relevant research progresses domestically and internationally were summarized.Results The proband presented with unsteady gait,dysarthria,choking while drinking,blurred vision,and severe sleep disturbances.Brain MRI revealed cerebellar atrophy.The proband's sister exhibited similar symptoms,including unsteady gait,dysarthria,choking while drinking,blurred vision,severe sleep disturbances,urinary incontinence,urinary retention,and severe depression.The proband's eldest daughter showed no obvious clinical symptoms but demonstrated poor balance ability.The proband's father,uncle,aunt,grandfather,grandfather's brother,and great-grandmother all died from the disease at the age of 40-50 years.Whole-exome sequencing results indicated that the CAG repeat numbers in the ATXN3 gene were 14/75 in the proband,14/77 in the proband's sister,and 25/77 in the proband's eldest daughter,all exceeding the normal range and confirming the pathogenic mutation.Conclusions SCA3,caused by excessive CAG repeat expansions in the ATXN3 gene,is the most common type of SCA and can affect multiple family members.In addition to ataxia,patients often experience various complications,including autonomic dysfunction,for which conventional treatments are largely ineffective.Whole-exome sequencing technology enables precise diagnosis of the disease and early identification of preclinical patients.

Objective To report the clinical,pathological,and genetic mutation characteristics of a family with spinocerebellar ataxia type 3(SCA3).Methods A retrospective analysis was conducted on the clinical features of multiple affected members in this family,and the latest relevant research progresses domestically and internationally were summarized.Results The proband presented with unsteady gait,dysarthria,choking while drinking,blurred vision,and severe sleep disturbances.Brain MRI revealed cerebellar atrophy.The proband's sister exhibited similar symptoms,including unsteady gait,dysarthria,choking while drinking,blurred vision,severe sleep disturbances,urinary incontinence,urinary retention,and severe depression.The proband's eldest daughter showed no obvious clinical symptoms but demonstrated poor balance ability.The proband's father,uncle,aunt,grandfather,grandfather's brother,and great-grandmother all died from the disease at the age of 40-50 years.Whole-exome sequencing results indicated that the CAG repeat numbers in the ATXN3 gene were 14/75 in the proband,14/77 in the proband's sister,and 25/77 in the proband's eldest daughter,all exceeding the normal range and confirming the pathogenic mutation.Conclusions SCA3,caused by excessive CAG repeat expansions in the ATXN3 gene,is the most common type of SCA and can affect multiple family members.In addition to ataxia,patients often experience various complications,including autonomic dysfunction,for which conventional treatments are largely ineffective.Whole-exome sequencing technology enables precise diagnosis of the disease and early identification of preclinical patients.

Activation of inflammatory responses regulates the transmission of pain pathways through an integrated network in the peripheral and central nervous systems. The immunopotentiator thymosin alpha-1 (Tα1) has recently been reported to have anti-inflammatory and neuroprotective functions in rodents. However, how Tα1 affects inflammatory pain remains unclear. In the present study, intraperitoneal injection of Tα1 attenuated complete Freund's adjuvant (CFA)-induced pain hypersensitivity, and decreased the up-regulation of pro-inflammatory cytokines (TNF-α, IL-1β, and IL-6) in inflamed skin and the spinal cord. We found that CFA-induced peripheral inflammation evoked strong microglial activation, but the effect was reversed by Tα1. Notably, Tα1 reversed the CFA-induced up-regulation of vesicular glutamate transporter (VGLUT) and down-regulated the vesicular γ-aminobutyric acid transporter (VGAT) in the spinal cord. Taken together, these results suggest that Tα1 plays a therapeutic role in inflammatory pain and in the modulation of microglia-induced pro-inflammatory cytokine production in addition to mediation of VGLUT and VGAT expression in the spinal cord.

Objective To explore and evaluate the changes of hemorheology and fracture healing in patients undergoing spinal operation with intraoperative autologuous blood transfusion.Methods A total of 80 patients underwent internal fixation of spine in our hospital from January 2012 to December 2014 were selected in this study.Digital random table method were utilized for dividing them into two groups.Autologous blood transfusion was used in group A,allogeneic blood transfusion was applied in group B.Blood viscosity,plasma viscosity,hematocrit,fibrinogen,erythrocyte sedimentation rate (ESR) and the level of sICAM-1,sVCAM-1 were collected and compared 1,4,8,12 weeks after the operation.Fesults Concentrated red cell and plasma volume infusion in group A was lower than that in group B,the level of sICAM-1,sVCAM-1 1,4,8,12 weeks after operation in group A were significantly lower than that in group B.There was no delayed fracture healing patients in group A,but there was 3 patients with delayed fracture healing in group B (P＜0.05).Blood viscosity,plasma viscosity,hematocrit,fibrinogen,erythrocyte and ESR 1,4,8,12 weeks after the operation compared in both group were not statistically significant (P＞0.05).Conclusion Autologous blood transfusion is not only a safe and effective method for blood transfusion,but also can improve the tissue blood supply,reduce inflammation,and conducive to fracture healing.

Postoperative pain is an important factor which affects patients'postoperative rehabilitation training.With the application of ultrasound guided nerve block and multimodal analgesia,the quality of postoperative pain management has improved obviously among patients after foot and ankle surgery.The study has reviewed the related research.

ObjectiveTo evaluate the clinical effecacy and safety of transurethral enucleation of submucosal bladder leiomyoma.MethodsAnalyze retrospectively the clinical data of 6 patients (2 male,4 female) of submucosal bladder leiomyoma. The mean age was 59 years (range 32- 78). The clinical manifestations included dysuresia in 3 cases, irritative bladder in 1 case, gross hematuria in 1 caes, and no clinical symptoms in 1 case. The mean course was 23 months (range 1 week-4 years). All the bladder tumors were indicated by ultrasonography, CT scan and cystoscopy, while 4 cases of bladder filling defects were showed by intravenous urogram. Before the tranaurethral enucleation of the bladder tumor, a deep needle biopsy and pathological examination were carried out to confirm the diagnosis of bladder leiomyoma. For the relatively small lateral leiomyomas, holium laser enucleation was carried out, while for the big ones, resectoscope enucleation was used to remove the mass. Biopsys were performed after complete removal of the tumor.ResultsTransurethral enucleation of 6 cases of submucosal bladder tumors were successful without any postoperative complication. All patients regained normal urination, and lower urinary tract irritation was relieved obviously and hematuria disappeared. No tumor recurrence or metastasis was found during the follow-up of 4 to 158 months.ConclusionsCystoscopy and transurethral biopsy are the most important methods for the diagnosis of submucosal bladder leiomyoma. The transurethral enucleation is a feasible and safe surgical technique for such patients with excellent results.