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Objective:To report the genetic and clinical features of sorbitol dehydrogenase (SORD) gene-related Charcot-Marie-Tooth disease (CMT) in Chinese population.Methods:Fifty-seven undiagnosed sporadic or autosomal recessive (AR) inherited CMT2 families were collected from the Department of Neurology of the Third Xiangya Hospital from 2009 through 2018 .Polymerase chain reaction combined with Sanger sequencing were used to detect the mutations of SORD gene, and the relative clinical features were summarized. Results:The homozygous SORD gene hot spot mutation c.757delG (p. Ala253GlnfsTer27) was detected in four sporadic patients, accounting for about 7% of the total. Two patients with CMT2 phenotype were characterized by progressive lower limb weakness and atrophy with electromyogram changes of axonal degeneration in both motor and sensory nerves. Two patients with distal hereditary motor neuropathy (dHMN) phenotype exhibited progressive lower limb weakness and atrophy with electromyogram changes of axonal degeneration in motor nerves only. The age of onset was between five and 16 years, and the CMT neuropathy score was 2-9.Conclusions:The homozygous hot spot mutation of SORD gene (c.757delG, p.Ala253GlnfsTer27), and related childhood or adolescence onset, mildly affected CMT2/dHMN phenotypes are firstly reported in Chinese population. SORD gene-related CMT might be the most common subtype of AR-CMT2.
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[This corrects the article DOI: 10.1016/j.apsb.2019.03.006.].
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Objective:To study the efficacy and safety of CT guided percutaneous transhepatic microwave ablation (PTPMWA) for primary liver cancer (PLC) in liver segment 9.Methods:A retrospective study was conducted on PLC patients between October 2013 and March 2019 at Dongguan People’s Hospital, Southern Medical University. Of 41 patients who entered into the study, there were 36 males and 5 females, with an average age of 59.1 years. These patients were diagnosed to have PLC in segment 9. The surgical related data and follow-up results were collected and analyzed.Results:All patients enrolled in the study completed the treatment procedure. CT scan was performed immediately after ablation which showed that the tumor areas to be completely covered by ablation. The duration of operation ranged from 45 to 260 (mean 91) min. The amount of bleeding during treatment was 1.0 to 5.0 (mean 1.4) ml. The complete response rate was 97.6% (40 patients) and the partial response rate was 2.4% (1 patient). The cumulative survival rates at 1, 2, 3, 4 and 5 years were 95.1%, 85.4%, 75.3%, 45.2% and 45.2%, respectively. Only 4 patients (9.8%) developed recurrence after treatment. The timings of recurrence were 1, 6, 13 and 67 months after treatment, respectively. The recurrent lesions were ablated again and complete response was obtained in all patients. There were no serious problems related to complications from ablation. The rate of postoperative complication was 7.3% (3 patients).Conclusion:PTPMWA is a novel treatment for patients with PLC in liver segment 9, the advantages of this treatment include good safety, high efficacy, low complications and local recurrence. The treatment is worthy of further future studies.
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Recently, considerable attention in the field of cancer therapy has been focused on the mammalian rapamycin target (mTOR), inhibition of which could result in autophagic cell death (ACD). Though novel combination chemotherapy of autophagy inducers with chemotherapeutic agents is extensively investigated, nanomedicine-based combination therapy for ACD remains in infancy. In attempt to actively trigger ACD for synergistic chemotherapy, here we incorporated autophagy inducer rapamycin (RAP) into 7pep-modified PEG-DSPE polymer micelles (7pep-M-RAP) to specifically target and efficiently priming ACD of MCF-7 human breast cancer cells with high expression of transferrin receptor (TfR). Cytotoxic paclitaxel (PTX)-loaded micelle (7pep-M-PTX) was regarded as chemotherapeutic drug model. We discovered that with superior intracellular uptake and more tumor accumulation of micelles , 7pep-M-RAP exhibited excellent autophagy induction and synergistic antitumor efficacy with 7pep-M-PTX. Mechanism study further revealed that 7pep-M-RAP and 7pep-M-PTX used in combination provided enhanced efficacy through induction of both apoptosis- and mitochondria-associated autophagic cell death. Together, our findings suggested that the targeted excess autophagy may provide a rational strategy to improve therapeutic outcome of breast cancer, and simultaneous induction of ACD and apoptosis may be a promising anticancer modality.
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Objective@#To analyze the characterisitics of the death cases suspected to be related to vaccination in Fujian Province from 2012 to 2017.@*Methods@#A total of 33 death cases information which was suspected to be related to the vaccinations from 2012 to 2017 were extracted from Chinese Adverse Events Following Immunization Information System (AEFI). The autopsy reports and the conclusions made by AEFI investigation diagnosis expert committee were collected at the same time. The inoculation data were obtained through the Fujian province Immunization Program Information System. The AEFI incidence, rare vaccine reaction incidences and mortality rates following immunization were figured out to analyze the characterisitics of the death cases associated with vaccination.@*Results@#The age of deuths cases was from 26 days to 52 months. Among 33 cases, 23 were males, and 8 were due to vaccine-related reaction, and the others were due to coincidental events. The number of rare vaccine reaction cases from 2012 to 2017 were 2,3,6,8,7 and 7, respectively. The highest AEFI incidence was measles and rubella combined attenuated live vaccine [38.88 (95%CI: 36.85-40.91)/100 000 dose], and the lowest was trivalent oral poliomyelitis attenuated live vaccine [2.01 (95%CI: 1.73-2.30)/100 000 dose]. The highest rare vaccine reaction incidence was measles and rubella combined attenuated live vaccine [15.04 (95%CI: 13.78-16.30)/100 000 dose], and the lowest was trivalent oral poliomyelitis attenuated live vaccine [0.38 (95%CI: 0.25-0.50)/100 000]. The highest mortality rate was inactivated poliomyelitis vaccine [0.26 (95%CI: 0.04-0.54)/100 000 doses], and the lowest mortality rate was measles, mumps and rubella combined attenuated live vaccine [0.01 (95%CI: 0.00-0.08)/100 000 doses]. The Spearman correlation analysis showed that there were correlations between AEFI incidence and rare vaccine reaction incidence (r=0.64, P=0.048), there were no correlations between AEFI incidence and mortality rate (r=-0.34, P=0.329), and there were no correlations between rare vaccine reaction incidence and mortality rate (r=-0.25, P=0.484).@*Conclusion@#Neither AEFI incidence nor rare vaccine reaction incidence was correlation with mortality rate. The main causes of death following vaccination were coincidental events.
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Objective@#Acoustic pharyngealmetry technology is utilized to evaluate the change and clinical significance of obstructive sleep apnea-hypopnea syndrome (OSAHS) patients caused by non-upper airway structural factor and normal individuals′ PWF(pharyngeal wall floppiness).@*Methods@#Acoustic pharyngealmetry instrument of Ecconvision was utilized to examine 102 OSAHS patients and 50 normal individuals, separately recorded their volume of pharyngeal cavity in sit or supine position, calculated PWF in sit or supine position, and SPSS 12.0 of tware was used to analyze data.@*Results@#PWF was 0.14±0.09 in sit position and PWF was 0.21±0.10, (t=5.96, t=9.63, P<0.001)in supine position of OSAHS group, which were all significantly higher than those of control group. PWFs in supine position of OSAHS group and control group were evidently higher than PWF(t=-11.91, P<0.001; t=-2.32, P=0.025) in sit position. ΔPWF(PWF_supine-PWF_sit)was 0.063±0.054 in OSAHS group which was significantly greater than in control(F=41.173, P<0.01). PWF in sit position and supine position were all positively related with age(r=0.714, r=0.735, P<0.001)while irrelevant with BMI(P>0.05).@*Conclusions@#PWF can be utilized to be an index to reflect the physiological feature of upper airway. PWF can more precisely reflect upper airway collapsibility of OSAHS patients on the condition of PWF in supine position. Pharyngeal wall floppiness quantified as a high PWF index is a non-structure vital factor of OSAHS patients and plays a role of guiding us to make personal treatment plans for OSAHS patients.
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Objective:To study the changes and significance of Th17 and Treg cells as well as their associated cytokines in pe-ripheral blood of patients with chronic hepatitis C and cirrhosis in order to investigate their role in the pathogenesis of chronic hepatitis C and hepatitis C cirrhosis. Methods:Flow cytometry and ELSIA assay were used to detect the expression ratio of Th17 and Treg cells and the serum levels of IL-10,TGF-β,IL-6 and IL-17 in peripheral blood of healthy human and patients with chronic hepatitis C and hepatitis C cirrhosis. Than we analyzed the differences of the above detection index between the healthy and patients with chronic hepatitis C and hepatitis C cirrhosis. Results:The expression ratio of Th17 cells (1. 33%±0. 30%) in peripheral blood of patients with chronic hepatitis C and IL-6[(8. 10±2. 42)ng/L] and IL-17[(16. 70±4. 73)ng/L] serum levels were significantly higher than those in the healthy (Th17:1. 14%±0. 19%) and IL-6[(1. 72±6. 70)ng/L],IL-17[(12. 29±1. 88)ng/L],P<0. 05;The expression ratio of Treg cells in peripheral blood of patients with hepatitis C cirrhosis and chronic hepatitis C patients was significantly higher than that in the healthy (6. 21%±0. 76%,5. 89%±0. 85% vs 5. 51%±0. 59% ),P<0. 05,The ratio of Th17/Treg in patients with cirrhosis was significantly lower than that in patients with chronic hepatitis C and the healthy(0. 19±0. 02 vs 0. 22±0. 03,0. 21±0. 03),P<0. 05;the levels of IL-1[(16. 21±3. 76)ng/L] and TGF-β[(5. 15±0. 83)ng/L] in peripheral blood of patients with hepatitis C cirrhosis were significantly higher than those in chronic hepatitis C[(14. 36±2. 78)ng/L;(4. 47±0. 87)ng/L] and the healthy[(14. 01±3. 01)ng/L;(4. 43±0. 98)ng/L)],P<0. 05. Conclusion:Th17 and Treg cells and their related cytokines involved in the process of chronicity of hepatitis C and cirrhosis,Th17 and Treg cells and their related cytokines in the treatment and prevention of chronicity of hepatitis C and cirrhosis may have important significance.
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Objective To observe the effects of baicalin on forms of hepatic tissue, liver apoptosis, mRNA expressions of iNOS, NF-κB and protein expression of Caspase-3 in rats with ischemia reperfusion injury; To discuss its mechanism of action.Methods The rat models of liver ischemia reperfusion were performed according to the Pringle's method. Rats were randomly divided into sham-operation group, model group and baicalin group. Sham-operation group and model group were given normal saline for gavage, while baicalin group was given baicalin for gavage. Morphological characteristic was observed by HE staining. Hepatocyte apoptosis was determined by TUNEL. The mRNA expressions of iNOS and NF-κB were determined by RT-PCR. The protein expression of Caspase-3 was determined by Western blot.Results Compared with the sham-operation group, mRNA expressions of iNOS and NF-κB and the protein expression of Caspase-3 in the model group increased, as well as liver apoptosis rate (P<0.05,P<0.01); compared with the model group, mRNA expressions of iNOS and NF-κB and the protein expression of Caspase-3 in the baicalin group decreased, as well as liver apoptosis rate (P<0.05), and the hepatic lesion significantly improved in the baicalin group.Conclusion Baicalin can restrain Caspase-3 induced apoptosis by reducing the expressions of iNOS and NF-κB, with a purpose to realize the hepatoprotective effect for liver of rats with ischemia reperfusion injury.
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Objective To review the indications,surgical methods,and matters which need attention in partial right diaphragmatic resection,and to summarize our experience of surgical therapy for hepatocellular carcinoma with right diaphragmatic invasion.Methods The clinical data of 27 patients with hepatocellular carcinoma which had invaded the diaphragm and had received partial right diaphragmatic resection and partial hepatectomy in our hospital from September 2008 to September 2012 were retrospectively analyzed.Results The operations were all performed successfully.The tumor diameter ranged from 5.0 to 15.0 cm (average 8.5 cm).The area of right diaphragm which was resected ranged from 9.0 to 50.0 cm2 (average 28.5 cm2).The operation time was 110～250 min (average 165 min),and blood loss was 450～2600 ml (average 870 ml).Diaphragmatic invasion was confirmed by postoperative histopathology in 9 patients (33.3％).A small quantity of right thoracic effusion was detected in all the cases postoperatively.Other complications included hepatic insufficiency in 4 patients and early postoperative bleeding,upper gastrointestinal bleeding,biliary fistula,and infection under the diaphragm in 1 case each.All patients recovered after conservative treatment.There was no perioperative death.19 patients received other postoperative adjuvant treatment while 6 patients refused further treatment and 2 patients were lost to follow-up.The 0.5-,1-,2,and 3 year survival rates after operation were 92.6％,81.5％,51.9％ and 33.3％ respectively.Conclusions Right diaphragmatic invasion is not a contraindication to surgery.Right diaphragmatic resection was safe and feasible,and postoperative long-term survival was satisfactory.
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Information of metabolic enzymes and transporters, physiological parameters of animals and demography of Chinese people were integrated to establish a digital liver model (DLM) based on metabolism and transporter and coded with VBA. Clearance and drug-drug interaction (DDI) of candidate drugs in animal and human could be predicted based on the pharmacokinetic data obtained from in vitro and in vivo experiments. Pravastatin and pitavastatin were selected as the samples to examine this model, where their clearance and their DDI with cyclosporine were predicted. The results showed that the predicted values of median parameters in same species were within twofold of observed values for 83.3% (5/6). The program's successful prediction in DDI tendency might indicate its application in optimizing the dosage regimen and reducing the risk of clinical trial.
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Objective To summarize the experience in management of main hepatic vein injury due to hepatectomy for hepatic neoplasm of segment Ⅷ. Methods Clinical data of 64 patients suffering from main hepatic vein injury due to hepatectomy of hepatic neoplasm of segment Ⅷ in our hospital from October 1996 to October 2008 were retrospectively analyzed. Results Both the main trunks of the middle and right hepatic vein were injured in 34 patients, single right hepatic vein in 13 and middle hepatic vein in 17. In these patients with hepatic vein injury, the main trunk of the hepatic vein was repaired in 39, vessels ligated in 12 and direct liver wound surfaces sutured in 12. The hepatectomy and hemostasis were successfully performed during operation in all patients. After operation, 3 patients had active bleeding and 2 patients were reoperated on to sew up the bleeding points by wadding with the gelatin sponge and discharged after rehabilitation. One patient gave up treatment and was discharged automatically. Conclusion Main hepatic vein injury in hepatectomy of hepatic neoplasm of segment Ⅷ can be managed effectively by hepatic vein repair, hepatic vein ligation and suture of the liver section that can be chosen to control the bleeding of hepatic vein injury according to the actual conditions.
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Objective To study biliary excretion of ceftriaxone sodium in humans. Methods Twelve biliary calculi patients were infused with a single dose of 2.0g ceftriaxone half an hour before operation and the common bile duct bile and gallbladder bile samples were coUected in the operations. The bile drug concentrations were assayed by HPLC. Results The results of clinical study on the bile drug showed that the concentrations (C) of ceftriaxone in common bile duct and gallbladder were (264.43±166.46) μg/ml and (85.39 ±48.16) μg/ml, respectively. Conclusion Ceftriaxone reaches high concentrations in humans' bile, and it could be chosen as a good antibiotics for the treament of biliary infection.