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Objective:To discuss the clinical characteristics of autosomal recessive spinocerebellar ataxia type 16 patients caused by STUB1 gene mutation, in order to improve the clinical doctors′ understanding of the disease. Methods:The clinical manifestations, auxiliary examinations and genetic testing of 1 autosomal recessive spinocerebellar ataxia type 16 patient caused by STUB1 gene variants diagnosed in Qilu Hospital of Shandong University in May 2022 were collected, and the relevant literature was reviewed to summarize the clinical and genetic characteristics of this type of disease. Results:The proband was a 35-year-old male presenting with unsteady walk and dysarthria. Magnetic resonance imaging showed cerebellar atrophy. Next generation sequencing revealed compound heterozygous c.322dupG (p.Glu108Glyfs *4) and c.433A>C (p.Lys145Gln) variants in the STUB1 gene (according to the transcript NM_005861.4), and the c.322dupG (p.Glu108Glyfs *4) variant was a novel variant. Pedigree verification revealed the 2 variants were respectively inherited from the proband′s healthy parents. A total of 12 foreign literatures reported 32 autosomal recessive spinocerebellar ataxia type 16 patients. The main clinical manifestations were ataxia, dysarthria and tendon hyperreflexia. Besides, nystagmus, spasticity, action tremors, and myoclonus can be present. Magnetic resonance imaging predominantly showed cerebellar atrophy. Conclusions:The patient with autosomal recessive spinocerebellar ataxia type 16 caused by STUB1 gene variant is rare in China. The main clinical manifestation is cerebellar ataxia, and brain imaging reveals remarkable cerebellar atrophy. Genetic testing is helpful for definite diagnosis.
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Objective:To investigate the clinical, pathological and genetic features of 3 cases of limb-girdle muscular dystrophy 2A (LGMD2A) caused by non-canonical splice site mutations in the CAPN3 gene. Methods:For the 3 LGMD2A patients admitted to Qilu Hospital of Shandong University from July 2016 to July 2018 were selected as the subjects. Clinical data were collected, whole exome sequencing was conducted, and the candidate variants were verified by Sanger sequencing. Total RNA was extracted from the skeletal muscle tissue of 3 probands and effects of splicing mutations on pre-mRNA splicing in the CAPN3 gene were verified by reverse-transcription polymerase chain reaction. Total protein was extracted from the muscle tissue of the probands and expression level of calpain 3 protein was detected by Western blotting. Results:All the 3 probands presented muscle weakness in upper and lower limbs, and muscle weakness in proximal limbs was more severe. Muscle biopsies all indicated myogenic impairment. Genetic sequencing showed proband 1 carried compound heterozygous c.2185-14T>G and c.2305C>T (p.R769W) mutations in the CAPN3 gene, proband 2 carried compound heterozygous c.1193+30G>A and c.2069_2070delAC (p.H690Rfs *9) mutations, and proband 3 carried homozygous c.1194-9A>G mutations in the CAPN3 gene. Splicing assay showed the c.2185-14T>G mutation located in intron 20 induced retention of the entire intron 20, the c.1193+30G>A mutation in intron 9 induced retention of the first 31 nucleotides of intron 9, and the c.1194-9A>G mutation in intron 9 induced retention of the last eight nucleotides of intron 9. Western blotting revealed deficiency of calpain 3 protein in skeletal muscle of proband 1 and proband 2. Conclusions:The clinical manifestation of LGMD2A is muscle weakness predominantly in proximal limbs, and the muscle pathology is mostly characterized by myogenic impairment.Moreover, aberrant splicing of pre-mRNA caused by non-canonical splice site mutations plays a pathogenic role in this disease.
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Objective:To evaluate the clinical application of online adaptive radiotherapy based on iterative cone-beam computed tomography (iCBCT) for the pelvic malignancies.Methods:This was a prospective clinical trial of iCBCT guided online adaptive radiotherapy for pelvic malignancies in Department of Radiation Oncology, Peking Union Medical College Hospital. Clinical data of 13 patients with pelvic malignancies who received online adaptive radiotherapy from August to November, 2022 were preliminarily analyzed (2 cases of cervical cancer, 4 postoperative cervical cancer, 3 postoperative endometrial cancer, 3 bladder cancer and 1 prostate cancer). The feasibility of online adaptive radiotherapy, adaptive radiotherapy time, the frequency and magnitude of edits for organs at risk and target volume, target volume coverage and organs at risk doses were analyzed. Statistical analysis was performed by SPSS software. Data conforming to normal distribution were described by Mean±SD, and data with non-normal distribution were expressed by M ( Q1, Q3). Data with homogeneous variances were analyzed by t-test, and data with non-normal distribution or heterogeneous variances were analyzed by nonparametric test. Results:The average adaptive time was 15 min and 38 s (from acceptance of acquired CBCT scan to completion of the final plan selection). 85.4% (830/972 fractions) of influencer structures (system-defined organs adjacent to and with high impact on the generation of clinical target volume and planning target volume, primarily bladder, rectum and small intestine in pelvic neoplasms) automatically generated by artificial intelligence required no edits or minor editors, and 89.8% (491/547 fractions) of clinical target volume automatically generated by artificial intelligence required no edits or minor editors. The adapted plan was adopted in 98.5% (319/324 fractions) of radiotherapy fractions. Compared with the scheduled plan, the adapted plan showed better target volume coverage and reduced the dose of organs at risk.Conclusions:iCBCT guided online adaptive radiotherapy for the pelvic malignancies can be achieved within clinically acceptable timeslots. In addtion, better dose coverage of target volume shows the advantages of online adaptive radiotherapy.
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Objective:To investigate the relationship of plasma cholinesterase (ChE) with triglyceride (TG) levels in newly diagnosed patients with type 2 diabetes (T2DM).Methods:Clinical data and biochemical parameters of 321 patients with newly diagnosed T2DM admitted to the Department of Endocrinology of People′s Hospital of Shanghai Putuo from January 2018 to June 2020 were retrospectively collected. The patients were classified into four groups based on the plasma ChE level: Q1group ( n=81, <6 915 U/L), Q2 group ( n=80, 6 916-8 268 U/L), Q3 group ( n=80, 8 269-9 578 U/L), and Q4 group ( n=80, ≥9 579 U/L). The correlation of plasma ChE with TG level was analyzed. Results:With the increased ChE level, TG level significantly increased ( P<0.001). Correlation analysis showed that ChE was positively correlated with body weight, body mass index (BMI), TG, total cholesterol (TC), low density lipoprotein cholesterol (LDL-C), uric acid (UA), alanine aminotransferase (ALT), aspartate aminotransferase (AST)( r=0.35, 0.39, 0.35, 0.31, 0.27, 0.24, 0.25, 0.11, P<0.05, P<0.01 or P<0.001)while negatively correlated with age, systolic blood pressure, blood urea nitrogen (BUN), creatinine, and glycated albumin (GA)( r=-0.46、-0.14、-0.20、-0.14、-0.21, P<0.05 or P<0.001). Multivariate stepwise regression analysis showed that ChE was an independent risk factor for TG ( β=0.270, P<0.001). Logistic Multivariate regression analysis showed that after adjustment for sex, age, body weight, hemoglobin, leukocytes, total protein, albumin, globulin, ALT, BUN, creatinine, uric acid, smoking history, drinking history, HbA 1C, GA, TC, and LDL-C, the risk of hypertriglyceridemia in Q4 was 6.024 folds higher than Q1 group ( P=0.011). With the TG (1.70 mmol/L) as cut-off value, the optimal cut-off point of the ChE was 7 801 U/L, as calculated by receiver operating characteristic(ROC) curve analysis of ChE and hypertriglyceridemia. Conclusions:ChE level is positively correlated with TG in newly diagnosed patients with T2DM.
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Objective:To investigate the clinical, muscle biopsy and gene mutation characteristics of nemaline myopathy caused by the NEB gene variants.Methods:A retrospective analysis of the clinical manifestations, auxiliary examinations, muscle biopsies and genetic analysis of 3 nemaline myopathy patients carrying NEB gene mutations diagnosed in the Neuromuscular Pathology Laboratory of Qilu Hospital of Shandong University during 2019-2021 was done. And the related literature was reviewed.Results:All of the 3 patients were congenital onset. The onset symptoms of the 3 patients were weakness of bilateral lower limbs. Physical examinations showed high palatine arches and long narrow faces. Electromyography showed myogenic impairment. Muscle biopsies of the 3 patients revealed myodystrophic changes and nemaline bodies. The ATPase staining of patient 1 showed the predominance and grouping of type 1 muscle fibers. Genetic tests revealed patient 1 carried c.21522+3A>G and c.3471dupC (p.N1158Qfs *5) mutations in the NEB gene, patient 2 carried c.21522+3A>G and c.18991_18992delAG (p.Q6332Afs *8) compound heterozygous mutations and patient 3 carried c.21522+3A>G and c.3448A>T (p.K1150 *) compound heterozygous mutations. All the 3 patients carried the c.21522+3A>G mutation in the NEB gene, which had only been reported in Chinese population. The c.3471dupC (p.N1158Qfs *5), c.18991_18992delAG (p.Q6332Afs *8) and c.3448A>T (p.K1150 *) mutations have not been reported yet. According to American College of Medical Genetics and Genomics guideline, c.21522+3A>G, c.3471dupC (p.N1158Qfs *5), c.3448A>T (p.K1150 *) and c.18991_18992delAG (p.Q6332Afs *8) mutations were all rated pathogenic. Conclusions:The onset age and clinical symptoms of nemaline myopathy are heterogeneous. Muscle biopsy and genetic analysis are important for diagnosis of nemaline myopathy. The c.21522+3A>G mutation in the NEB gene may be more common in Chinese population.
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Objective:To investigate the relationship between normal plasma fibrinogen(FIB)levels and disease duration in elderly patients with type 2 diabetes mellitus(T2DM).Methods:Clinical data and biochemical test results of 1 116 elderly subjects with T2DM admitted to the Department of Endocrinology of Shanghai Tianyou Hospital from January 2016 to October 2019 were retrospectively collected and analyzed.Subjects were classified into four groups based on the duration of DM: the Q1 group(n=276, < 2.0 years), the Q2 group(n=278, 2.0-7.9 years), the Q3 group(n=280, 8.0-13.9 years)and the Q4 group(n=282, ≥ 14.0 years). The correlation between FIB and the duration of DM was analyzed.Results:With the prolongation of DM duration, FIB levels increased significantly( P<0.05). Pearson correlation analysis showed that the duration of DM was positively correlated with FIB, age and serum creatinine( P<0.01). Multiple stepwise regression analysis showed that the duration of DM was an independent factor for FIB( β=0.104, P<0.01). Logistic multiple regression analysis showed that after adjusting for sex, age, body mass index, systolic pressure, diastolic pressure, total cholesterol, triglycerides, high-density lipoprotein cholesterol, low-density lipoprotein cholesterol, serum creatinine, alanine aminotransferase, fasting plasma glucose, glycosylated hemoglobin, smoking and drinking, the risk of hyperfibrinogenemia was 2.436 and 2.104 times higher, respectively, in Group Q4 and Group Q3 than in Group Q1(95% CI: 1.317-4.507, P<0.01; 95% CI: 1.144-3.871, P<0.05). With the third-quartile FIB(3.70 g/L)as the cut-off value, the optimal cut-off point of the DM course was 9.5 years as calculated by receiver operating characteristic(ROC)curve analysis of DM duration and hyperfibrinogenemia. Conclusions:The FIB level is positively correlated with DM duration in elderly patients with T2DM.
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Objective@#To evaluate the short-term efficacy of one-stage reverse shoulder arthroplasty in the treatment of complex proximal humeral fractures in the elderly.@*Methods@#Data of 43 elderly patients with complex proximal humeral fractures who were treated by reverse shoulder arthroplasty from July 2017 to January 2019 were retrospectively analyzed. There were 12 males and 31 females with an average age of 72 years (range, 66-78 years). All fractures were fresh and close which caused by trauma. The average time from injury to operation was 8.0 days (range, 6-11 days). According to Neer classification, 21 cases (48.8%, 21/43) were three-part fractures, 22 cases (51.2%, 22/43) four-part fractures. Visual analogue scale (VAS), Neer shoulder replacement evaluation system and Constant-Murley score were used to evaluate the postoperative results.@*Results@#All operations were successfully completed. The average operation time was 141.3 minutes (range, 120-170 minutes. The mean blood loss was 407 ml (range, 250-700 ml) and intraoperative blood transfusion was 446.5 ml (range, 400-800 ml). All patients were followed up for 10.9 months (range, 6 to 16 months). All patients were discharged within 7 days after operation, and no wounds related complications occurred. The bigger and lesser tuberosities of all patients healed completely within 8 weeks. At the latest follow-up, no loosening or dislocation of prosthesis occurred, and the forward elevation was 133.0° (range, 100°-165°); external rotation was 29.5° (range, 20°-35°); internal rotation was 46.7° (range, 30°-60°). VAS score was 0.8 (range, 0-3). The Neer score was 87 (range, 73-98), with 20 cases (46.5%, 20/43) excellent, 16 cases (37.2%, 16/43) good, and 7 cases (16.3%, 7/43) fair. Constant-Murley score was 88.7 (range, 70-98). A 71-year-old patient had symptoms of axillary nerve injury after operation and recovered completely 6 weeks after the operation, which did not affect the functional rehabilitation exercise or the stability of the prosthesis. During the follow-up, no other complications such as infection, acromial stress fracture and scapular notching were found in all patients.@*Conclusion@#The short-term effect of one-stage reverse shoulder arthroplasty for the treatment of complex proximal humeral fractures in the elderly is satisfactory.
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Intrahepatic cholangiocarcinoma (ICC) is a rare primary liver cancers. The pathogenesis is obscure and usually, it is asymptomatic in early stage, the diagnosis is made with difficulty. Most patients are in advanced stage upon diagnosis and have unresectable tumors.Strategies and indications for surgery are variable by different doctors. Standard, effective and individualized treatment strategies are lacking, with high malignancy, the tumor often shows unfavorable prognosis. In this review, we elucidate the cancer staging system, diagnostic algorithm, choice of surgical approaches and progress of nonsurgical treatment in conjunction with domestic and foreign literatures, so as to enhance the awareness of ICC and avoid misdiagnosis or underdiagnosis, eccessive or inadequate treatment in clinical work and confer benefit to patients.
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Intrahepatic cholangiocarcinoma (ICC) is a rare primary liver cancers.The pathogenesis is obscure and usually,it is asymptomatic in early stage,the diagnosis is made with difficulty.Most patients are in advanced stage upon diagnosis and have unresectable tumors.Strategies and indications for surgery are variable by different doctors.Standard,effective and individualized treatment strategies are lacking,with high malignancy,the tumor often shows unfavorable prognosis.In this review,we elucidate the cancer staging system,diagnostic algorithm,choice of surgical approaches and progress of nonsurgical treatment in conjunction with domestic and foreign literatures,so as to enhance the awareness of ICC and avoid misdiagnosis or underdiagnosis,eccessive or inadequate treatment in clinical work and confer benefit to patients.
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Objective:To investigate the changes of plasma high density lipoprotein cholesterol (HDL-C) and metabolic indicators in obese patients after laparoscopic sleeve gastrectomy (LSG).Methods:The retrospective cohort study was conducted. The clinical data of 69 obese patients who were admitted to the Tenth People′s Hospital of Tongji University from August 2013 to March 2017 were collected. There were 32 males and 37 females, aged (33±12)years, with a range from 18 to 65 years. Of 69 patients, 44 patients with preoperative HDL-C concentration <1.04 mmoL/L were allocated as low HDL-C group, and 25 patients with preoperative HDL-C concentration ≥1.04 mmoL/L were allocated as normal HDL-C group. Sixty-nine patients underwent LSG. Observation indicators: (1) analysis between preoperative HDL-C and clinical indicators; (2) follow-up; (3) stratified analysis of plasma HDL-C. Follow-up was conducted using outpatient examination and hospitalization review to detect changes of plasma HDL-C, insulin resistance index, uric acid, free fatty acids and body mass every 3 months after operation up to September 2017. Measurement data with normal distribution were represented as Mean± SD, and comparison between groups was analyzed using the t test. Measurement data with skewed distribution were represented as M ( P25, P75), and comparison between groups was analyzed using the Mann-Whitney U test. Count data were expressed as absolute numbers or percentages, and comparison between groups was analyzed using the chi-square test. Pearson correlation coefficient was used to analyze measurement data with normal distribution, and Spearman correlation was used to analyze measurement data with skewed distribution. Repeated measurement data were analyzed by ANOVA. Results:(1) Analysis between preoperative HDL-C and clinical indicators: results of correlation analysis showed that the preoperative plasma HDL-C concentration was negative correlated with the body mass, height, abdominal circumference, insulin resistance index and triglyceride in 69 patients ( r=-0.246, -0.307, -0.262, -0.253, -0.301, P<0.05), and the preoperative plasma HDL-C concentration was not correlated with the age, body mass index (BMI), fasting blood glucose, glycosylated hemoglobin, alanine aminotransferase, aspartate aminotransferase, gamma glutamyltransferase, uric acid, creatinine, free fatty acid, fasting serum insulin, total cholesterol and low density lipoprotein cholesterol ( P>0.05). The preoperative plasma HDL-C concentration was still negative correlated with the body mass in 69 patients after adjusting for age, BMI, fasting blood glucose, glycosylated hemoglobin, fasting serum insulin and insulin resistance index ( r=-0.277, P<0.05). (2) Follow-up: 69 patients were followed up postoperatively for 6 months (6 months, 12 months). The plasma HDL-C concentration, insulin resistance index, uric acid, free fatty acids, body mass of low HDL-C group at postoperative 3 and 6 months were (0.96±0.18)mmol/L, 2.20(0.51, 11.66), (411±93)μmol/L, 0.57 mmol/L (0.20 mmol/L, 1.00 mmol/L), (92±18)kg and (1.11±0.18)mmol/L, 2.19(0.71, 8.75), (389±100)μmol/L, 0.40 mmol/L(0.13 mmol/L, 1.10 mmol/L), (86±17)kg, respectively. The above indicators of normal HDL-C group at postoperative 3 and 6 months were (1.17±0.24)mmol/L, 2.22(0.24, 7.04), (379±105)μmol/L, 0.60 mmol/L(0.27 mmol/L, 1.10 mmol/L), (84±16)kg and (1.34±0.20)mmol/L, 1.60(0.36, 5.56), (359±92)μmol/L, 0.42 mmol/L (0.16 mmol/L, 2.90 mmol/L), (80±18)kg, respectively. There was significant difference in the changes of postoperative plasma HDL-C concentration between the two groups ( F=41.443, P<0.05), and there was interaction between groups and time points ( F=6.252, P<0.05). There was significant difference between different time points ( F=29.900, P<0.05). There was significant difference in the changes of postoperative insulin resistance index between the two groups ( F=4.313, P<0.05), and there was no interaction between groups and time points ( F=2.298, P>0.05). There was significant difference between different time points ( F=29.800, P<0.05). There was no significant difference in the changes of postoperative uric acid between the two groups ( F=1.669, P>0.05), and there was no interaction between groups and time points ( F=0.111, P>0.05). There was significant difference between different time points ( F=12.796, P<0.05). There was significant difference in the changes of postoperative free fatty acids between the two groups ( F=5.465, P<0.05), and there was no interaction between groups and time points ( F=0.504, P>0.05). There was no significant difference between different time points ( F=1.405, P>0.05). There was significant difference in the changes of postoperative body mass between the two groups ( F=5.614, P<0.05), and there was no interaction between groupsand time points ( F=2.174, P>0.05). There was significant difference between different time points ( F=497.496, P<0.05). (3) Stratified analysis of plasma HDL-C. ① Changes of postoperative plasma HDL-C in obese patients of different genders: of 69 patients, the plasma HDL-C concentration of the 32 male patients before operation and at postoperative 3 and 6 months were (0.91±0.19)mmol/L, (1.02±0.24)mmol/L, (1.18±0.23)mmol/L, respectively, and the percentage increase of plasma HDL-C concentration at postoperative 3 and 6 months were 12.00%(4.00%, 12.00%)and 20.00%(12.00%, 39.25%), respectively. The above indicators of the 37 female patients were (1.05±0.21)mmol/L, (1.06±0.22)mmol/L, (1.22±0.22)mmol/L and 0(-9.50%, 8.25%), 12.00%(2.00%, 23.00%), respectively. There was significant difference in the changes of percentage increase of plasma HDL-C concentration between the male and female patients ( F= 6.716, P<0.05), and there was interaction between groups and time points ( F=3.861, P<0.05). There was significant difference between different time points ( F=37.374, P<0.05). ② Changes of postoperative plasma HDL-C in obese patients of different genders in low HDL-C group and normal HDL-C group: of 44 patients in low HDL-C group, the plasma HDL-C concentration of the 24 male patients before operation and at postoperative 3 and 6 months were (0.82±0.12)mmol/L, (0.99±0.21)mmol/L, (1.12±0.22)mmol/L, respectively, and the percentage increase of plasma HDL-C concentration at postoperative 3 and 6 months were 16.00%(-1.75%, 28.75%) and 27.50%(15.75%, 43.50%), respectively. The above indicators of the 20 female patients in low HDL-C group were (0.89±0.08)mmol/L, (0.93±0.14)mmol/L, (1.10±0.14)mmol/L and 1.50%(-8.25%, 16.50%), 18.00%(9.00%, 23.00%), respectively. There was significant difference in the changes of percentage increase of plasma HDL-C concentration between the male and female patients ( F=4.503, P<0.05), and there was interaction between groups and time points ( F=3.594, P<0.05). There was significant difference between different time points ( F=37.096, P<0.05). Of 25 patients in normal HDL-C group, the plasma HDL-C concentration of the 8 male patients before operation and at postoperative 3 and 6 months were (1.15±0.12)mmol/L, (1.12±0.32)mmol/L, (1.32±0.21)mmol/L, respectively, and the percentage increase of plasma HDL-C concentration at postoperative 3 and 6 months were -1.00%(-14.00%, 12.00%), 13.50%(6.75%, 32.50%), respectively. The above indicators of the 17 female patients in normal HDL-C group were (1.23±0.16)mmol/L, (1.20±0.20)mmol/L, (1.36±0.20)mmol/L and 0(-13.75%, 4.25%), 5.50%(0, 28.50%), respectively. There was no significant difference in the changes of percentage increase of plasma HDL-C concentration between the male and female patients ( F=0.209, P>0.05), and there was no interaction between groups and time points ( F=0.176, P>0.05). There was significant difference between different time points ( F=6.481, P<0.05). Conclusions:For patients with low or normal plasma HDL-C concentration preoperative, there are significant differences in the changes of HDL-C, insulin resistance index, free fatty acids and body mass after LSG. There is significant difference in the changes of postoperative percentage increase of plasma HDL-C concentration between male and female patients who with low plasma HDL-C concentration preoperative.
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Objective To evaluate the short-term efficacy of one-stage reverse shoulder arthroplasty in the treatment of complex proximal humeral fractures in the elderly.Methods Data of 43 elderly patients with complex proximal humeral fractures who were treated by reverse shoulder arthroplasty from July 2017 to January 2019 were retrospectively analyzed.There were 12 males and 31 females with an average age of 72 years (range,66-78 years).All fractures were fresh and close which caused by trauma.The average time from injury to operation was 8.0 days (range,6-11 days).According to Neer classification,21 cases (48.8%,21/43) were three-part fractures,22 cases (51.2%,22/43) four-part fractures.Visual analogue scale (VAS),Neer shoulder replacement evaluation system and Constant-Murley score were used to evaluate the postoperative results.Results All operations were successfully completed.The average operation time was 141.3 minutes (range,120-170 minutes.The mean blood loss was 407 ml (range,250-700 ml) and intraoperative blood transfusion was 446.5 ml (range,400-800 ml).All patients were followed up for 10.9 months (range,6 to 16 months).All patients were discharged within 7 days after operation,and no wounds related complications occurred.The bigger and lesser tuberosities of all patients healed completely within 8 weeks.At the latest followup,no loosening or dislocation of prosthesis occurred,and the forward elevation was 133.0° (range,100°-165°);external rotation was 29.5° (range,20°-35°);internal rotation was 46.7° (range,30°-60°).VAS score was 0.8 (range,0-3).The Neer score was 87 (range,73-98),with 20 cases (46.5%,20/43) excellent,16 cases (37.2%,16/43) good,and 7 cases (16.3%,7/43) fair.Constant-Murley score was 88.7 (range,70-98).A 71-year-old patient had symptoms of axillary nerve injury after operation and recovered completely 6 weeks after the operation,which did not affect the functional rehabilitation exercise or the stability of the prosthesis.During the follow-up,no other complications such as infection,acromial stress fracture and scapular notching were found in all patients.Conclusion The short-term effect of one-stage reverse shoulder arthroplasty for the treatment of complex proximal humeral fractures in the elderly is satisfactory.
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BACKGROUND:Currently, the enzymatic digestion combined with magnetic activated cel sorting for isolating microvascular endothelial cel s are cumbersome and do harm to cel s. Therefore, how to simplify the isolation and culture of human dermal microvascular endothelial cel s to obtain highly purified endothelial cel s in vitro becomes a hotspot. OBJECTIVE:To explore a simple and effective cultivation method of microvascular endothelial cel s from diabetic patient skins in vitro, and to detect the cel growth. METHODS:Diabetic patients with chronic foot wounds after amputation were enrol ed to col ect the limb proximal skin and topical skin around the wound superficial dermal tissue. Human dermal microvascular endothelial cel s were obtained using adherent method and trypsin method, fol oewd by purified utilizing trypsin digestion and repeated attachment method when passage culture. RESULTS AND CONCLUSION:Human dermal microvascular endothelial cells were obtained successfully, Primary cultured endothelial cells completely adhered to the wall at 24 hours, entered the logarithmic phase at the 10th day, and the cell concentration reached 80%at the 12th-13th day. While the passage cells grew more actively than primary cells, and fully covered the bottom in a“cobblestone”arrangement after 5-7 days of culture. Immunohistochemical staining showed that cultured cells were positive for FVIII and CD31-associated antigens with 100%positive rate. MTT assay showed that cell growth curves of 2, 4, and 5 generations of dermal microvascular endothelial presented the invertedSshape. These results suggest that abundant highly purified human dermal microvascular endothelial cells can be obtained through the adherent method and a small amount of short-term trypsin method.
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Aim To investigate the effect of metformin (Met) on connexin43(Cx43) expression in H9c2 cells cultured with high glucose and the relevant mecha-nisms.Methods Rat myocardial cells H9c2 were cul-tured with high glucose , then combined with 3μmol· L-1 and 5 μmol · L-1 of Met for 24 h respectively . The viability and toxicity of H9c2 cells were detected by MTT and LDH , respectively .The expression and distribution of Cx43 were detected by immunofluores-cence staining .The intracellular oxygen species reac-tive ( ROS) level was detected by fluorescencemicrosco-py.And the expression of Cx43, P-AMPK, AMPK and GAPDH was determined by Western blot .Results The viability of H9c2 cells was increased and the level of intracellular ROS was decreased in Met group , while there existed no significant difference in LDH release among groups.Met significantly increased the phos-phorylation of AMPK and the expression of Cx 43, and improved the distribution of Cx 43 also.Conclusion The beneficial effect of Met on cardiovascular system in diabetic patients may via up-regulating the expression of Cx43 and down-regulating of intracellular ROS through activation of AMPK .
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Aim To investigate the effect of simvastatin ( Sim ) on endogenous antioxidant system after acute myocardial infarction ( AMI ) and its potential mecha-nisms. Methods The acute myocardial infarction ( AMI ) rat models were made by ligation left anterior descending of coronary artery. Then the successful models were randomly divided into myocardial infarc-tion group ( MI group) and simvastatin group ( Sim,20 mg·kg-1·d-1), another group without ligation left anterior descending of coronary artery served as sham group(Sham group). The Sim group was administered simvastatin by gavage for 7 days. MI group and Sham group received saline. Hemodynamic parameters, lipid levels, troponinI ( c-TnI ) and lactate dehydrogenase ( LDH) concentrations were examined after 7days, and the levels of superoxide dismutase ( SOD) and glutathi-one peroxidase ( GP) of myocardial antioxidant system were detected by ELISA. The expression of cardiac p-Akt and p-eNOS protein were detected by Western blot. Results Acute myocardial infarction significant-ly lowered cardiac hemodynamic parameters, increased serum c-TnI and LDH levels, lowered levels of SOD and GP, and lowered the expression of p-Akt and p-eNOS protein. However, Sim could effectively prevent the deterioration of cardiac function, reduce serum c-TnI and LDH levels, increase levels of SOD and GP, and increase p-Akt and p-eNOS protein expression. Conclusion Early using Sim can effectively improve heart function after acute myocardial infarction, acti-vate myocardial antioxidant system,and reduce myocar-dial necrosis, which may be related to increasing the expression of p-Akt and p-eNOS.
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ObjectiveTo investigate the risk factors of metabolic syndrome ( MS ) in obese subjects.Methods A seven-year follow-up study was conducted in 413 simple obese subjects and 196 subjects with normal body weight who were recruited from community residents during physical examination in 2000.There was a 7 years follow-up.Anthropometrics,blood pressure,lipid profile,fasting blood glucose,and 2 h blood glucose after glucose loading were measured.Endothelium-dependent dilatation (EDD) test was also performed.Results Among 553 of 609 subjects who were followed up in 2007,there were 381 simple obese subjects ( simple obese group) and 172 normal weight subjects( normal weight group).Seven-year cumulative incidence of MS was 35.17% in simple obese group and 8.14% in normal weight group.In simple obese group,subjects with MS showed greater or higher levels of waist circumference( WC ),waist-hip ratio ( WHR ),triglyceride ( TG ),fasting plasma glucose ( FPG ),fasting insulin (FINS),and homeostasis model assessment for insulin resistance index (HOMA-IR) (all P<0.05 ),and also decreased EDD( P<0.05 ) as compared with those without MS.WC,WHR,and FINS were higher( all P<0.05 ) and EDD was lower( P<0.05 ) in subjects with MS of normal weight group than those without MS.Logistic analysis showed that the male gender,WC,WHR,FPG,HOMA-IR,and EDD were major risk factors of MS.Conclusion Central obesity,insulin resistance,and endothelial dysfunction are important independent risk factors for development of MS.
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BACKGROUND: Mesenchymal stem cells in Wharton's Jelly of the human umbilical cord can induce differentiation into islet-like cells.OBJECTIVE: To verify the possibility of human umbilical cord derived mesenchymal stem cells co-cultured with rat pancreatic cells differentiate into islet-like cells, and to observe the effects of transplantation of islet-like cells on blood glucose of diabetic rats.METHODS: Mesenchymal stem cells in Wharton's Jelly of the human umbilical cord was separated, induced, passaged, and co-cultured with pancreatic cells to induce differentiation into islet-like clusters. Rats were divided into the normal control, model and experimental groups. Rats in the model group were prepared for diabetic models, and those in the experimental group were transplanted islet-like cells after model preparation. RESULTS AND CONCLUSION: There were cells crawled out of cultured Wharton's Jelly of the human umbilical cord, and morphology of adhered cells turned into fusiform shape at 7 days. The isolated cells are characterized by expressing specific surface markers of mesenchymal stem cells, such as CD44, CD29, CD105, but not expressing CD34, CD45 or CD14. The cells were strongly stained by PDX-1 and human insulin at 7 and 10 days. Compared with the simple culture group, the expression of human insulin and concentration of C-peptide were obviously increased; PDX-1 and human insulin mRNA expressions were highly expressed at 7 and 10 days after induction. Compared with the model group, the streptozotocin test of rats in the experimental group was obvious decreased (P < 0.01), but extremely higher than that of the normal control group at 1 week after transplantation (P < 0.01). Brdu positive nuclei and insulin positive kytoplasms could be seen in the experimental group at 8 weeks after transplantation. The results demonstrated that, umbilical cord derived mesenchymal stem cells existed in Wharton's Jelly. The co-cultured cells promote mesenchymal stem cells differentiating into islet-like cells, which can dramatically decrease blood glucose in diabetic rats.
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Objective To explore the clinical efficacy of interventional therapy for transplant renal artery stenosis (TRAS) after allograft renal transplantation.Methods Twenty-two patients with TRAS were treated with interventional therapy,including 10 patients (balloon group) underwent percutaneous transluminal angioplasty (PTA) and 12 patients (stent group) underwent stent implantation.The blood pressure,renal function and quality of life were recorded before and after interventional therapy within two years.Besides,two groups were compared with another group of 6 patients (medicine group) receiving medical treatment only.Results The technical success rate was 90.00% for PTA and 100%for stent implantation.The interventional treatment of TRAS with PTA or stent implantation was associated with significant improvement in blood pressure and renal function,while the conservatively medical treatment of TRAS was inefficient.There was no statistical difference in the short-term improvement of blood pressure or renal function between balloon group and stent group.Six to twenty-four-month follow-up indicated that there were 2 patients with restenosis (2/12,1 6.67%) in stent group.The total restenosis rate for PTA was 40.00%.Eleven patients in stent group achieved normal daily activities and works,except one was treated ineffectively with an uncertain cause.Conclusion Stent implantation for TRAS,especially for TRAS of type Ⅰ and Ⅱ,can be used as the primary therapy.
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Objective To investigate the relationship between Trp64Arg mutation in β3-adrenerglc receptor (β3-AR) gene and the incidence of metabolic syndrome (MS). Methods A seven-year follow-up study was conducted in 386 simple obese subjects and 175 normal weight subjects in whom geno-typing of Trp64Arg mutation in β3-AR gene was examined in 2000. Results There were no differences between a Trp64Trp homozygote group and a Trp64Arg heterozygote group of whether obese or normal weight subjects with respect to adiposity, blood pressure, lipid profile, fasting blood glucose and fasting insulin in the baseline. The results of follow-up indicated that the incidence of MS in the Trp64Arg heterozygote group was higher than that in the Trp64Trp homozygote group of obese males (54. 76% vs 40. 85% ,P <0. 05) but not in the group of obese females. The incidences of MS both in the Trp64Trp homozygote group and Trp64Arg heterozygote group were higher in obese males than in obese females (40. 85% vs 18. 27% and 54. 76% vs 21.28% ,all P <0. 01 ) . No significant differences were found in incidences of MS both in the Trp64Trp homozygote group and Trp64Arg heterozygote group of normal weight subjects whether the comparison was made between males and females respectively or between males and females. The overall incidence of MS in the obese subjects were significantly increased than that in the normal weight subjects whether there was genevariant or not(31.30% vs 6. 03% and 42. 75% vs 12. 73%, all P <0. 01 ). Logistic analysis showed thatβ3-AR gene variant was associated with increased incidence of MS in males. Conclusion β3-AR gene Trp64Arg mutation is an independent risk factor for the incidence of MS in males.Conclusion β3-AR gene Trp64Arg mutation is an independent risk factor for the incidence of MS in males.
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Objective To approach the effect of down regulation of fast glucose damge standard on endothelial funtion. Methods The FBS 、serum lipid、 uric acid of 54101 normal subjects were detected, those subjects were divided by FBG value into four groups: A B C D ,the value of TC、 TG、 uric acid in group B were higher than which in group A, lower than in group C. The value of PBG、FINS、PINS、ET、NO of 655 subjects choiced randomly were detected .At the same time the endodermis dependence angiectasia funtion mediated by bloodstream and the no-endodermis dependence angiectasia funtion mediated by glycerol trinitrate were detected . Results The value of group B was lower than which in group A, having no statistical meanings compared with group C、D;the no-endodermis dependence angiectasia funtion mediated by glycerol trinitrate of group B was higher than that of group C, that of group C was lower than group A, the comparison of other two groups has no statistical meanings. Conclusions Down regulation of fast glucose damge standard can effect on the endothelial funtion.
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[Objective]To investigate the effect of three-dimensional computered tomographic(3DCT)reconstruction on the classification of operation for congenital elevation of the scapula and choice of congenital elevation of the scapula.[Method]Twenty-two patients with congenital elevation of the scapula were scanned with serial spiral CT and the images were three-dimensionally reconstraucted before operation.The scapular altitude difference of both sides were measured with the reference of scapular spine.Different appropriate operations which based on these results and Cavendish's classification were chosen for different patients.[Result]Twenty-two patients were followed-up for 2 years to 4 years,the appearance and the range of motion were improved without injuries of nerve,vessel and spine.[Conclusion]The pathological changes of congenital elevation of the scapula could be displayed clearly by 3DCT,so it is beneficial to choose the methods of operation and avoiding complications.