Objective:To analyze the efficacy and safety of enzyme replacement therapy (ERT) in Chinese patients with Fabry disease.Methods:A retrospective analysis of the clinical manifestations, genetic variations, family screening, treatments and adverse reactions was conducted in five patients with Fabry disease admitted to the First Affiliated Hospital of Zhejiang University College of Medicine from July 2020 to May 2021. The dosage of agalsidase β was 1 mg/kg by intravenous pump once every 2 weeks.Results:Five male patients with median age of 37 years old (29-51 years old) were diagnosed based on clinical features, family history, α-galactosidase A (α-Gal A) activity, genetic analysis results and kidney biopsy. The clinical manifestations varied in these five patients. All patients had abnormal electrocardiogram, abnormal cardiac ultrasonography and abnormal urinalysis results, three experienced acroparaesthesia during childhood (one patient had persistent pain until adulthood), three had cutaneous angiokeratoma, four had renal insufficiency, four had hypohidrosis, four had diarrheas, four had cornea verticillata and two had high-frequency hearing loss. Two missense mutations of the GLA gene were identified: c.272T>C(p.I91T) and c.868A>G(p.Met290Val). Two nonsense mutations were c.1024C>T(p.Arg342*) and c.838C>T(p.Gln280*). Furthermore, the frameshift mutation c.348del p.(Ile117Phefs*4) was detected, which was not included in the known database, presented with classical Fabry disease. There was no serious adverse reaction during agalsidase β infusion in 5 patients. ERT reduced the plasma globotriaosylsphingosine (lyso-GL-3) levels after treatment of 2-10 months ( P<0.05), and the long-term diarrhea symptom were significantly improved. Conclusions:The clinical manifestations of Fabry disease are varied. Severe adverse events rarely occur in patients treated with short-term ERT. Plasma lyso-GL-3 levels decrease significantly after treatment.

Objective: To compare the medium-term clinical and radiologic outcomes between anterior decompression with fusion (ADF) and posterior open-door laminoplasty (LAMP) in the treatment of multi-level cervical spondylotic myelopathy (MCSM). Methods: Data of 121 patients meeting to inclusion criteria from October 2011 to February 2016 were retrospectively analyzed. All the patients were treated with ADF (ADF group, n=57) or LAMP (LAMP group, n=64) for MCSM. There were 39 males and 18 females in ADF group, aged from 35 to 77 years, with an average age of 58.8±10.1 years. And there were 64 cases in LAMP group, including 48 males and 16 females, aged from 28 to 82 years, with an average of 60.6±12.2 years. The operation time and blood loss were recorded. The clinical efficacy was evaluated by Japanese Orthopaedic Association Scores (JOA), improvement rate and visual analogue scale (VAS) before operation, 1, 3, 6, 12 and 24 months after operation and at the latest follow-up. At the same time, sagittal alignment of the C₂-C₇ lordotic angle and range of motion (ROM) in flexion and extension on plain X-rays was measured. Residual anterior compression to the spinal cord (ACS) in LAMP group on MRI was investigated. The incidence of complications such as axial symptoms and C₅ nerve root paralysis were recorded. Results: The average follow-up period was 25.6±3.8 months in ADF group and 27.3±4.1 months in LAMP group. Demographics were similar between the two groups. The mean JOA scores in ADF group increased from preoperative 8.25±2.33 to 14.62±3.15 at the latest follow-up, with an average recovery rate of 72.81%±11.32%. The mean JOA scores in LAMP group increased from preoperative 8.84±3.65 to 12.97±4.32 at the latest follow-up, with an average recovery rate of 66.54%±14.75%. The difference between two groups was statistically significant. Both of the VAS scores in the two groups decreased significantly at 1 month after the surgery, but the difference between the ADF group (1.92±0.75) and the LAMP group (2.78±0.68) was statistically significant (t=2.364, P=0.021). There was no significant difference in VAS score between the two groups at 3 months after operation. Cervical lordosis of ADF group increased from 15.3°±7.6° to 19.2°±5.7°, while that of LAMP group decreased from 16.8°±8.3° to 13.6°±4.3°. There was significant difference in cervical curvature between the two groups at the latest follow-up. Both two groups exhibited decreased cervical ROM, 15.2°±3.6° and 18.1°±4.1°, respectively, and the difference between two groups was statistically significant (t=3.392, P=0.000) . At the latest follow-up, the incidence of complication was 35.1% in ADF group and 20.3% in LAMP group, and the difference between two groups has no statistically significant. The LAMP group was divided into two subgroups: (1) ACS(+)(n=11) comprising patients who had ACS after surgery, and (2) ACS(-) (n=53) comprising patients without ACS. At the latest follow-up, the average JOA score of patients with anterior residual compression of spinal cord was 10.85±5.46, while the average JOA score of patients without anterior residual compression of spinal cord was 14.18±4.52. The recovery rate differed significantly between the ACS(+) and ACS(-) groups, 40.52%±9.76% and 70.38%±10.52%, respectively. Also at the latest follow-up, the cervical curvature, ROM and ROM loss angle were 10.2°±7.3°, 15.6°±6.7° and 11.8°±8.3° in the group with anterior residual compression of spinal cord, respectively. The groups without anterior residual compression of spinal cord were 15.8°±6.5°, 20.4°±10.2° and 8.8°±6.8°, respectively. Conclusion Both ADF and LAMP groups provided good outcomes at 2-year time-point whereas ADF could achieve more satisfactory outcomes and better sagittal alignment at the middle-term. ADF can remove the compression directly, maintain the curvature of cervical vertebra effectively and restore the nerve function well. The clinical outcomes after LAMP could be influenced by ACS, due to the reduction of cervical curvature and the decrease of cervical range of motion.

Objective To explore the value of abdominal computed tomography (CT) in evaluating extramural vascular invasion of gastric cancer. Methods Totally 98 patients with primary gastric cancer were selected and conducted with abdominal CT examination. The value of abdominal CT in the diagnosing extramural vascular invasion of gastric cancer was analyzed based on the results of surgical pathology as the gold standard. TNM staging, tumor size and growth pattern were compared between extramural vascular invaders and non-invaders. Results Abdominal CT for diagnosis of extramural vascular invasion of gastric cancer was highly consistent with surgical and pathological results (Kappa = 0. 953, P = 0. 001). The accuracy of abdominal CT for diagnosis of extramural vascular invasion of gastric cancer was 97. 96％ (96/98), the sensitivity was 100. 00％ (30/30), the positive predictive value was 93. 75％ (30/32), the specificity was 97. 06％ (66/68), and the negative predictive value was 100. 00％ (66/66). There were no significant differences in stage N and stage M between extramural vascular invaders and non-invaders (P＞ 0. 05). Compared with non-extramural vascular invaders, the proportion of T4 stage was significantly higher in extramural vascular invaders (P ＜ 0. 05). Compared with non-extramural vascular invaders, the proportions of patients with tumors size over 5 cm and nodular and diffuse type was significantly higher in extramural vascular invaders (P ＜ 0. 05). Conclusion Abdominal CT can improve the preoperative evaluating effect of extramural vascular invasion of gastric cancer, and can accurately judge the disease of extramural vascular invasion of gastric cancer.

Objective To explore the value of abdominal computed tomography (CT) in evaluating extramural vascular invasion of gastric cancer. Methods Totally 98 patients with primary gastric cancer were selected and conducted with abdominal CT examination. The value of abdominal CT in the diagnosing extramural vascular invasion of gastric cancer was analyzed based on the results of surgical pathology as the gold standard. TNM staging, tumor size and growth pattern were compared between extramural vascular invaders and non-invaders. Results Abdominal CT for diagnosis of extramural vascular invasion of gastric cancer was highly consistent with surgical and pathological results (Kappa = 0. 953, P = 0. 001). The accuracy of abdominal CT for diagnosis of extramural vascular invasion of gastric cancer was 97. 96％ (96/98), the sensitivity was 100. 00％ (30/30), the positive predictive value was 93. 75％ (30/32), the specificity was 97. 06％ (66/68), and the negative predictive value was 100. 00％ (66/66). There were no significant differences in stage N and stage M between extramural vascular invaders and non-invaders (P＞ 0. 05). Compared with non-extramural vascular invaders, the proportion of T4 stage was significantly higher in extramural vascular invaders (P ＜ 0. 05). Compared with non-extramural vascular invaders, the proportions of patients with tumors size over 5 cm and nodular and diffuse type was significantly higher in extramural vascular invaders (P ＜ 0. 05). Conclusion Abdominal CT can improve the preoperative evaluating effect of extramural vascular invasion of gastric cancer, and can accurately judge the disease of extramural vascular invasion of gastric cancer.

Objective To evaluate the efficacy and safety of single bolus high dose (SD group) ATG-Fresenius induction therapy in kidney transplantation vs.multiple low dose (MD group) administration.Methods A multiple center,prospective,randomized and controlled clinical study was performed on 280 de novo renal transplant recipients from 19 centers.Patients were randomized into 2 groups as follows:SD group,a single high dose (7-9 mg/kg) of ATG-F infused as an induction agent before the vessel anastomoses;MD group,2 mg/kg of ATG-F daily administrated in postoperative 4 days.All the patients accepted maintenance immunosuppressive protocol including tacrolimus,mycophenolate and prednisone.Patients were assessed and data were collected at regular schedule clinic visits on the day 1,3,7,14,30,90,180,270 and 365.The primary end point of efficacy was therapeutic failure rate [the number of death,grafts loss and acute rejection (AR)].The event first occurred should be used in the classification of patients.The non-inferiority evaluation of the two treatment regimens was done based on treatment failure rate.The secondary end points of efficacy were the incidence of AR,delayed graft function (DGF),1-year survival rate of patients and grafts,and serum creatinine at each visiting point.The indicators for safety evaluation included hemotologic variation and incidence of adverse events.Results The therapeutic failure rate in SD group was non-inferior to the MD group (17.24％ vs.23.08％).AR was the major cause of therapeutic failure and there was similar incidence of AR between SD gronp and MD group (12.07％ vs.21.37％).There was no significant difference in the incidence of DGF between SD group and MD group (12.07％ vs.6.84％,P =0.1721).The 1-year patient's survival rate and 1-year graft survival rate in SD group and MD group showed no significant difference (96.55％ vs.98.29％,P =0.6714;94.83％ vs 98.29％,P =0.2750).The serum creatinine level showed no significant differences between two groups at each visit point.There was also no significant difference in total incidence of adverse events between the two groups.In addition,there was also no statistically significant difference in the incidence of concerned and drug-related adverse events between the two groups,including infection,hemotologic abnormality,liver or renal dysfunction,gastrointestinal disorder,etc.After ATG--F administration,peripheral blood lymphocytes in the SD and the MD group immediately decreased but nearly restored to the normal level on the postoperative day 30 and 90 respectively.No severe granulocytopenia,erythropenia or thrombocytopenia occurred in both two groups.Conclusion The efficacy and safety of single high dose of ATG-F induction are non-inferior to multiple low dose ATG-F induction,moreover,single high dose of ATG-F induction is administered more conveniently and economically.

Objective To analyze the consistency of the detection results of glycosylated hemoglobin (HbA1c) by SMART POCT and Hitachi 7180 biochemical analyzers .Methods Firstly the accuracy of HbA1c detected by the SMART POCT and Hita‐chi 7180 biochemical analyzers were evaluated .And then 20 randomly selected samples were tested by both equipments .A relevance analysis between detected data from two equipments was conducted .Results There was a good correlation between the results of the HbA1c detected by two detecting systems ,with the correlation coefficient of r2 =0 .981 1 .Conclusion There is a good consis‐tency in detection results of glycosylated hemoglobin (HbA1c) detected by SM ART POCT and Hitachi 7180 biochemical analyzer .

ObjectiveTo discuss the selection of surgical approach,operative methods,and stability of reconstitution of affection of cervicothoracic junction.MethodsFrom January 2001 to February 2009,86cases with affection of cervicothoracic junction were treated surgically.The mean age of patients at the time of surgery was 43.1 years (range,17-70).Fifty-seven patients were treated with anterior approach (fixation with autologous bone grafts was done in 38 patients,Cage fixation in 5,titanium mesh in 14),21 with posterior approach(the fixation of lateral mass screw combined with pedicle screw was used in 12 patients,fixation with pedicle screw in 9),and 8 with anterior combined posterior approach.The neurological function of 53 cases of injury of cervicothoracic junction was assessed by American Spinal Injury Association (ASIA) criteria,and the rest was assessed by Japanese Orthopaedic Association(JOA) criteria; bone arthrodesis and restoring lordosis of cervical spine were assessed by Bohlman radiographic criteria.ResultsSixty-nine cases were followed up for an average of 12.4 months(range,3-45).ASIA score increased from 1.8 preoperatively to 2.3 postoperatively,and JOA score increased from 10.3 preoperatively to 12.8 postoperatively.Bone fusion reached in all patients,and lordosis of the cervical spine of 62 cases was restored.One case with respiratory dysfunction,1 case with cerebrospinal fluid leakage,2 cases with hoarseness,and 1 case with loose lateral mass screw were found after the surgery.ConclusionThe advantages of surgical reconstitution of the cervicothoracic junction included promoting recovery of neurological function,restoring the alignment and lordosis of the cervical spine,decreasing the rate of complication,which were dependent on the suitable surgical indications,surgical approach,and way of surgical reconstitution.The selection of reconstituted methods depends on disease,lesion site,type and degree of injury,experience of doctor,decompression and spinal stabilization synthetically.

ObjectiveTo evaluate the efficacy and safety of HC-A Ⅱsolution in kidney preservation.Methods A multicenter,randomized,double-blind and controlled clinical trial was conducted.Between Jan.2008 and Dec.2010,kidney recipients from 9 transplant centers were randomly divided into two groups.Grafts in each group were perfused and stored in HC-A Ⅱ or HTK solutions respectively.Results277 patients were included in the Full Analysis Set (FAS),137 of whom were inHC-A Ⅱgroup and 140inHTK group. Demographic andbaseline medical characteristics were similar between the two groups.262 patients were included in the Per Protocol Set (PPS),133 of whom were in HC-A Ⅱ group and129 in HTK group.The percentages of patients with a serum creatinine level that returned to normal within 28 days postoperation were 86.9％ in HC-A Ⅱ group and 85.0％ in HTK group respectively (P＞0.05 ).The results from PPS analysis were consistent with those from FAS analysis The incidence of test-related adverse events was 2.9％ in HC-AⅡ group and 0.7％ in HTK group respectively (P＞0.05).No test-related serious adverse events occurred throughout the study.ConclusionHC-A Ⅱ solution,the same as HTK solution,is safe and effective in kidney preservation.

Objective To document the impact of conversion to mycophenolate mofetil (MMF)at different time points after transplantation on the renal function of renal function.Methods A longterm,multicenter,non-interventional and observational study was done.Two cohorts were included:One was Switch cohort (340 cases) including renal allograft recipients who switched to MMF at least 6 months after renal transplantation and followed up for 4 years after switch; The other was Stay cohort (123 cases),including renal allograft recipients who received MMF treatment after transplantation and followed up for 4 years after enrollment.Results GFR values of patients in Switch cohort was significantly increased after switch,and the change in GFR slope was 3.1 mL· min-1 · year-1 (P＜0.01).GFR values of patients in Stay cohort kept steady before and after enrollment,and the change in GFR slope was 0.44 mL·min-1 ·year-1 (P＞0.05).Statistically significant difference in the onset time of GFR decline (defined as 20％ decline from the baseline) was observed among subgroups within Switch cohort (P＜0.01),but there was no significant difference among subgroups within Stay cohort (P＞0.05).Stay cohort was 12％ higher than in Switch cohort every year.Conclusion Conversion to MMF ＞6 months or even many years after transplantation can obviously improve the renal function of recipients.The earlier conversion can benefit improvement of the renal function.

Objective To study the alteration of Th17 cells and related molecules in patients with Hashimoto's thyroiditis (HT).Methods Th17 cells were determined by flow cytometry.Real-time PCR method was applied to detect the expression of the orphan nuclear receptor RORγt and interleukin(IL) -17.Serum IL-6 and IL-23 were detected by ELISA method.Results ( 1 ) Compared with healthy controls,the frequency of Th17 cells [ (0.75± 0.79) ％ vs ( 0.28 ± 0.23 )％ ] and expression of RORγt ( 0.30 ± 0.38 vs 0.04 ± 0.02,both P ＜ 0.05 ) were significantly increased in HT patients.( 2 ) The levels of IL-6 and IL23 in HT patients were higher than those in healthy controls ( 3.66 ± 4.70 vs 0.47 ± 1.11,154.7 ± 75.81 vs 80.65 ± 61.41,both P＜0.05 ).( 3 ) A positive correlation between Th17 cells and serum TgAb was revealed in HT patients ( r =0.848 4,P =0.007 7 ).(4) The results of PCR showed that IL-17 and RORγt expressed in thyroid tissues of patients HT.Conclusion An increased frequency of Thl7 cells was found in HT patients,implying that this cell subset may play an important role in the pathogenesis of autoimmune thyroid disease.