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Background: Hereditary spastic paraplegia (HSP) caused by mutations in ALDH18A1 have been reported as spastic paraplegia 9 (SPG9), with autosomal dominant and autosomal recessive transmission (SPG9A and SPG9B). SPG9 is rare and has shown phenotypic and genotypic heterogeneity in previous reports. Methods: This study screened ALDH18A1 mutations in autosomal recessive HSP patients using combined whole exome sequencing and RNA splicing analysis. We conducted in silico investigations, co-segregation analysis, and ELISA-based analysis of P5CS (Δ1-pyrroline-5-carboxylate synthetase; encoded by ALDH18A1) concentration to validate the pathogenicity of the detected ALDH18A1 variants. All previously reported bi-allelic ALDH18A1 mutations and cases were reviewed to summarize the genetic and clinical features of ALDH18A1-related HSP. Results: A novel missense mutation c.880T>C, p.S294P and an intronic splicing mutation c.-28-13A>G were both detected in ALDH18A1 in an autosomal recessive family presenting with a complicated form HSP. ELISA assays revealed significantly decreased P5CS concentration in the proband's plasma compared with that in the healthy controls. Moreover, review of previously reported recessive cases showed that SPG9B patients in our cohort presented with milder symptoms, i.e., later age at onset and without cognitive impairment. Conclusion: The present study expands the genetic and clinical spectrum of SPG9B caused by ALDH18A1 mutation. Our work defines new genetic variants to facilitate future diagnoses, in addition to demonstrating the highly informative value of splicing mutation prediction in the characterization of disease-related intronic variants.

Purpose This study reports a case of primary mucinous carcinoma of the thyroid gland with signet-ring-cell differentiation, and reviews the literature to evaluate its real incidence and the prognosis of these patients. Patients and methods A 74-year-old Chinese woman, presenting with a mass in the right lobe of thyroid gland, came to the hospital. Computed tomography revealed a mass in the right lobe of the thyroid gland, accompanied with right neck lymphadenectasis and airway deviation caused by tumor compression. Thyroid imaging suggested a thyroid malignant tumor and suspicious lymph node metastasis. Histologically, the tumor was characterized by the tumor cells arranged in small nests or trabeculae with an abundant extracellular mucoid matrix. The tumor cells formed diffuse invasion among thyroid follicles. In the peripheral regions, prominent signet-ring-cells formed a sheet-like structure and extended into the extrathyroidal fat tissue. The tumor cells were diffusely positive for thyroid transcription factor-1 (TTF-1) and PAX8, while they were focally positive for pan-cytokeratin (AE1/AE3) and weakly expressed thyroglobulin. Results Based on the histological features and immunohistochemical profile, a diagnosis of primary mucinous carcinoma of the thyroid gland with signet-ring-cell differentiation was rendered. Conclusion Using a panel of immunohistochemical markers may be helpful for differential diagnosis and for determining whether the tumor is primary or not.

Herein, the crystallization behavior, thermal stability, phase composition, and magnetic properties of Co66.5Si15.5B12Fe4Ni2 amorphous alloy were determined via differential scanning calorimetry, X-ray diffraction analysis, and vibrating sample magnetometry. The heating rate was found to strongly affect the glass-transition and crystallization behavior of Co66.5Si15.5B12Fe4Ni2 solidified ribbon. Based on the crystallization behavior, the relationship between the glass-transition temperature (Tg) and the heating rate (lnβ) was derived as Tg = 6lnβ + 709 and the glass-transition activation energy, initial crystallization activation energy, first crystallization peak activation energy, and the second crystallization peak activation energy were also calculated. Based on the results, the nucleation mechanism of the crystallization of Co66.5Si15.5B12Fe4Ni2 amorphous alloy and the crystallization products of the annealing crystallization process were discussed. The phase composition after short-term annealing at a low temperature was found to be β-Co + α-Co + Ni3Fe + Ni4B + Ni2Si. Following high-temperature, long-term annealing, Ni2Si disappeared completely and a new phase, FeSi, was formed. By studying the coercivity, remanence, saturation magnetization, and magnetic anisotropy of the alloy, we obtained the best processing parameters for comprehensive soft magnetic properties. The results provide guidance on the development of new soft magnetic materials.

Hot atoms can exhibit non-magnetic optical non-reciprocal transmission due to their chiral properties, which are characteristic of most alkali metal atoms. In fact, the nonreciprocity in hot atoms depends on the propagation direction of the coupling field due to the Doppler effect. Herein, the reciprocal to non-reciprocal conversion based on the single- and double-dark states is realized by controlling the bidirectional coupling fields in a three-level electromagnetically induced transparent medium coupled with a ring cavity. Tuning the frequency difference between the two coupling fields causes the multi-frequency-channel reciprocity and nonreciprocity manipulation to occur. The experimental proof can be applied to quantum communications and quantum networks, such as optical transistors, all-optical switching or routing and logic gate operation.

To explore the safety and feasibility of intraoperative, intraperitoneal perfusion chemotherapy with lobaplatin for colorectal cancer (CRC).From November 1, 2016 to January 15, 2017, a total of 100 patients with CRC in Cancer Hospital, Chinese Academy of Medical Science and Peking Union Medical College, who had undergone radical surgery, were randomized into two groups as follows: the lobaplatin group (50 patients) and the control group (50 patients). The time of recovery of postoperative intestinal functions, hematotoxicity, hepatic-renal toxicity, and postoperative complications were observed and analyzed, with the goal of exploring the safety and feasibility of the drug administration.The time to first gas exhaust in lobaplatin and the control group was 3.08 days and 3.20 days, respectively (p=0.392). The time of defecation in lobaplatin and the control group was 4.38 days and 4.50 days, respectively (p=0.524). There was no statistically significant difference between them in terms of the time of gas exhaust and defecation. One case with intra-abdominal hemorrhage, 1 case with anastomotic leakage, 3 cases with incision complication, 1 case with adhesive intestinal obstruction, and 1 case with pulmonary infection occurred in lobaplatin group compared to 1 case with anastomotic bleeding, 1 case with anastomotic leakage, 2 cases with incision complication, 2 cases with adhesive intestinal obstruction, 2 cases with pulmonary infection, and 1 case with lymphatic fistulas occurred in control group. There was no statistically significant difference between the groups in terms of the total incidence of postoperative complications (p=0.790). No statistically significant difference was observed between the groups in terms of leukocyte and platelet levels on the first, third, and fifth postoperative day. There was also no statistically significant difference in terms of platelet level 2 weeks after surgery. Both the lobaplatin and control group had 2 cases with postoperative abnormal hepatic-renal function. A total of 6 cases in the lobaplatin group and 7 cases in the control group developed gastrointestinal reactions, showing no statistically significant difference (p=0.766).Intraoperative intraperitoneal perfusion chemotherapy with lobaplatin showed no effect on short-term recovery in patients with CRC.

Objective This study was designed to investigate the effects of curcumin on inflammatory factors and ECM expression in exercise-induced renal ischemia reperfusion injury in rats. Methods Sixty 7-week-old male SD rats were divided randomly into three groups: group A (normal control group, n=12), group B (overtraining group, n=24) and group C (curcumin + overtraining group, n=24). Group B and C performed 6 weeks of incremental load training on the treadmill. 24 hours after the last training, the rats were anesthetized intraperitoneally, the morphology of renal tissue and the deposition of glomerular ECM were observed using light microscope，the related biochemical indexes were tested. Results (1) the renal structure of rats in group A were normal, histopathological changes were observed in group B and C, Paller score of group B were significantly higher than group A(P

Objective Silt diaphragm is the most important and bioactive membrane structure in the filtration barrier of kidney, and the root cause of proteinuria is the structural and functional abnormalities of Silt diaphragm. So far, there is little literature on the changes of silt diaphragm caused by overtraining. This research establishes a model of rats with exercise-induced proteinuria with long-term intensitive treadmill exercise, and it simulates the progressive-load training in the cycle of athletes. Histological and ultrastructural changes of kidney immediately and 24 h after exercise are observed, and it aims to analyze the change law of silt diaphragm during the occurrence of persistent proteinuria. Methods this study selects 36 Sprague-Dawley rats, which are randomly divided into 3 groups: a control group (group C, 12), a group drawn immediately after exercise(group EI, 12), a group drawn 24 h after exercise(group EA, 12). Group C does not train. The rats in group EI and EA train on the treadmill with an increasing load for 6 weeks(10% grade, 6 d/w): in the first week, the rats run for 10 min at 10 m/min. Starting from the second week, the running speed increases by 5m/min/w, and the training time increases by 30min/w. In the last week the rats run to exhaustion if they could not maintain the target intensity. Record the exhausting time of rats, then group EI and group EA are respectively drawn immediately and 24 hours after exercise. Observe the histological changes of renal glomerulus by optical microscope, and the ultrastructure of silt diaphragm by TEM. Detect urine total protein by BCA, serum and urine creatinine by Jaffe, serum testosterone and corticosterone by radioimmunoassay, serum urea by two-point dynamic method, and the expression of Nephrin by western-blot. Results The rats in group EI and EA gradually lose weight at the first weekend of training, and their weight drop significantly from the third weekend to the end, it shows a significant difference compared with group C(p0.05). Conclusions The rats suffer from overtraining syndrome caused by intensitive training, and with persistent proteinuria, their renal function is disordered and cannot be effectively recovered after 24 h rest. Meanwhile, the renal morphology and ultrastructure of silt diaphragm in rats undergo "pathogenical-like" changes, which do not significantly decrease with the extension of recovery time. It is revealed that the injury of renal structure and ultrastructure of silt diaphragm caused by overtraining are the structural basis of continuous exercise-induced proteinuria.

Objective Long-term intensive training may led to ischemia oxygen reaction and increase the ROS. Astaxanthin, as the super antioxidant, was investigated to against anti-oxidative stress. By supplementing the astaxanthin, we wanted to observe if it can mediated Nrf2 reduces myocardial cell oxidative injury in rats after high intensity training of 6 weeks. Methods 7-week SD male rats were divided into 3 groups randomly: control group ( C group，n =10)，high intensity training group ( HT group，n = 15)，astaxanthin and high intensity training group (HTA group，n = 15) . The rats in HTA group were given with astaxanthin 20 mg /kg·d and in HT group were given with oil during the training day．The serum cTnI，myocardial apoptosis index, the expression of myocardial BAX, Bcl2, Nrf2, HO-1, myocardial MDA，SOD and T- AOC activity were measured 24 hours after the last training． Results After 6-week tranning of high intensity, compared with group C, the serum cTNI, myocardial apoptosis index, the expression of BAX and myocardial MDA were significantly higher in group HT(P

The cloud storage is the evolution of the cloud computing system, which is based on data storage and management. This thesis is focused on the discussion of the cloud storage model that is built on the Cloud Storage Access Protocol of SNIA, and puts forward the concept of storage pooling at storage management layer with unified virtualization and dynamic management on physical storage devices. The thesis also compares the typical DFS (Distributed File System) on the data management layer in different data conditions.

With the development of cloud computing, cloud storage distributed the endless file system,but not a better copy strategy compatible with various file systems.This paper proposed ontology-based metadata replica which make different file systems mutual fusion ,and give a policy of replica allocation of low-load access .

Objective: This paper studied the protective effect and mechanism of epimedium combined with oligomeric proanthocyanidins on exercise-induced renal ischemia-reperfusion injury of rats. Methods: In the experiment, the rats were given exhaustive swimming training and then their blood urea nitrogen (BUN) and other biochemical indexes were measured after they were given gastric perfusion with 6.01 g/kg doze of epimedium and 50 mg/kg doze of oligomeric proanthocyanidins for 56 days. Results: The result indicated that 8 weeks of over training led to ischemia-reperfusion injury of rats. Moreover, their kidney tissues were significantly changed pathologically and renal functions drastically damaged. BUN and serum creatinine increased and EOM group (P < 0.05), OPCOM group (P < 0.05) and EOPCOM group (P < 0.01) were lower than OM group. EOPCOM group was lower than OPCOM group. SOD activity decreased, EOM group (P < 0.05), OPCOM group (P < 0.05), EOPCOM group (P < 0.01) higher than OM group, and EOPCOM group (P < 0.05) higher than OPCOM group. The content of MDA increased, EOM group (P < 0.05), OPCOM group (P < 0.05), EOPCOM group (P < 0.01) lower than OM group, and EOPCOM group (P < 0.05) lower than OPCOM group. Conclusion: Both epimedium and oligomeric proanthocyanidins can boost SOD activity, clean oxygen radicals, clean and alleviate peroxidation of lipids, which exert protection on exercise-induced renal ischemia-reperfusion. The two combined yield a much better result.

To evaluate the feasibility, safety and short-term outcomes of total laparoscopic rectosigmoid cancer surgery with transanal natural orifice specimen extraction.From July 2012 to February 2013, 21 patients underwent total laparoscopic surgery with transanal natural orifice specimen extraction. There were 12 males and 9 females with a median age of 53 (48-77) years.Rectal cancer (n = 11) and sigmoid cancer (n = 10) were diagnosed. The clinical data such as bowel function recovery time, number of lymph nodes harvested and an incidence of anastomotic leakage was collected and retrospectively analyzed to assess the value of this technique.Operation was successfully accomplished without conversion into open surgery or conventional laparoscopic-assisted surgery. The median operative duration was 105 (80-165) min, the median volume of blood loss 50 (20-300) ml, the median number of lymph nodes harvested 16(8-29) and the time of first bowl movement was 48 (24-72) h. The postoperative hospitalization stay was 9 (6-12) d. There were abdominal hemorrhage (n = 1) and anastomotic leakage (n = 1).Total laparoscopic rectosigmoid cancer surgery with transanal natural orifice specimen extraction appears to be feasible, and oncologically acceptable for selected patients.

Optical diodes controlling the flow of light are of principal significance for optical information processing. They transmit light from an input to an output, but not in the reverse direction. This breaking of time reversal symmetry is conventionally achieved via Faraday or nonlinear effects. For applications in a quantum network, features such as the abilities of all-optical control, on-chip integration, and single-photon operation are important. Here we propose an all-optical optical diode which requires neither magnetic fields nor strong input fields. It is based on a “moving” photonic crystal generated in a three-level electromagnetically induced transparency medium in which the refractive index of a weak probe is modulated by the moving periodic intensity of a strong standing coupling field with two detuned counterpropagating components. Because of the Doppler effect, the frequency range of the crystal’s band gap for the probe copropagating with the moving crystal is shifted from that for the counterpropagating probe. This mechanism is experimentally demonstrated in a room temperature Cs vapor cell.

Anorectal malignant melanoma was a rare disease with extremely poor prognosis. The aim of this study was to explore the clinical characteristic, diagnosis and treatment strategies of anorectal malignant melanoma.The data of 57 patients with anorectal malignant melanoma was collected and retrospectively analyzed.Rectal bleeding and anal mass were found to be common symptoms of anorectal malignant melanoma. The preoperative diagnosis rate of anorectal malignant melanoma was 48.6%. The overall 3-year and 5-year survival rate was 38.0% and 21.3% respectively. The 3-year survival rates of stage I and II patients were 63.0% and 16.7% respectively (P = 0.000), and the 5-year survival rates were 33.3% and 11.1% (P = 0.001), which both had significant statistic differences. The 3-year survival rate of patients undergone abdmoninoperineal resection and patients undergone wide local excision were 36.7% and 53.0% respectively (P = 0.280), while the 5-year survival rate were 24.1% and 23.1% (P = 0.642), which both had no significant statistic differences.This study identified no survival advantage to abdominoperineal resection in treatment of anorectal malignant melanoma, and we propose that wide local excision could be considered as the initial treatment of choice.

To explore the diagnosis, treatment, and prognostic factors of liver sarcoma.The clinical data of 16 liver sarcoma patients, 9 males and 7 females, aged 46.7 (12-73), treated 1980-2005, were analyzed retrospectively.The most common symptoms were right upper quadrant pain (56.3%) and mass in the right upper abdomen (56.3%). Alpha fetoprotein (AFP) was negative in all the patients. None was correctly diagnosed by imaging examination preoperatively. Fifteen patients underwent surgical treatment, including radical operation in 7 patients (46.7%) and palliative resection/biopsy in 8 patients. 1 patient took transcatheter hepatic arterial chemo-embolization rather than operation because of multifocal tumor. Pathological analysis diagnosed 6 patients (37.5%) as with leiomyosarcoma, 5 patients (31.25%) with angiosarcoma, 2 patients (12.5%) with fibrosarcoma, 1 patient (12.5%) with epithelioid hemangioendothelioma, 1 patient (12.5%) with myxoid liposarcoma, and 1 patient (12.5%) with undifferentiated embryonal sarcoma. The 1-year, 3-year, and 5-year survival rates were 71.4%, 41.7%, and 33.3% respectively. The 1-year, 3-year, and 5-year survival rates of the patients who received R0 were 100.0%, 83.3%, and 66.7% respectively, all significantly higher than those of the patients who did not receive R0 (all P = 0.011). The 1-year, 3-year, and 5-year survival rates of the patients with the tumor size5 cm were 100%, 100%, and 75% respectively, all higher than those of the patients with the tumor size5 cm, however, not significantly (all P = 0.084).Liver sarcoma is difficult to be diagnosed preoperatively. Surgical resection is the mainstay of the treatment of liver sarcoma. R0 and tumor size are of prognostic values.

To evaluate the accuracy and reliability of atlantoaxial transarticular screw insertion (Magerl's technique) in atlas under lateral fluoroscopic monitoring without anteroposterior view.Seventy-five consecutive patients with atlantoaxial instability, 48 males and 27 females, aged 35.1, were treated by Magerl's technique. The screw path in atlas was achieved by direct probing the isthmus of axial vertebrae then identifying its position through the atlantoaxial joint correlation. Postoperative transoral X ray and CT film were used for analysis of the position of the 150 screws in the mass of atlas. Three areas were delimitated in and around the lateral mass of atlas: area A (inside the joint face), area: B (outside the joint face but still in lateral mass), and area C area (outside the lateral mass) so as to analyze the location of screws.Among the 150 screws 139 (92.7%) were located in area A, 8 in area B(1) and 3 in area B(2) (7.3%), and none in area C. All cases got atlantoaxial union 3 months after operation.The method of "direct probing" is reliable for identifying the path of screw in atlas.

AIM: To study the effect of inhibited E-cadherin expression on invasion of cancer cells. METHODS: We designed the nucleotide sequence of siRNA corresponding to 5’ non-coding and coding sequence of E-cadherin. 21-nucleotide dssiRNA was synthesized by in vitro transcription with Ambion Silencer TM siRNA Construction Kit. siRNA was transfected into gastric cancer MKN45 using TransMessenger transfection Kit. RT-PCR and immunofluorescent assay were used to investigate the inhibition of the expression of mutated E-cadherin. Invasive ability of cancer cells was determined by Transwell assay. RESULTS: The synthesis of E-cadherin mRNA rather than protein expression was suppressed dramatically 7 d after interference. Decreased protein expression was observed on d 10 after interference. On d 11, invasion ability was enhanced significantly. CONCLUSION: siRNA targeted at non-coding and coding sequence of E-cadherin showed significant inhibition on mRNA and protein expression. Inhibited E-cadherin expression results in increased invasion ability of cancer cells.

A reversed-phase high performance liquid chromatographic method for simultaneous determination of 18 amino acids is described. The sample was mixed with norleucine as the internal standard, then derivatized with phenylisothiocyanate (PITC) and analyzed on a Kromasil C18 column at 38 degrees C, using gradient elution with detection at 254 nm. The correlation coefficients between the ratios of peak area of amino acid to that of the internal standard and the amino acid concentrations were above 0.99, except for cysteine(Cys)(0.962). The recoveries of amino acids added were 96.0%-102.4%. Detection limit of leucine was 0.5 mg/L. The method was applied to analyze free amino acids in deproteinized calf blood injection and good results were obtained.

Introduction Preoperative chemoradiotherapy (CRT), followed by total mesorectal excision, has become the standard of care for patients with clinical stages II and III rectal cancer. Patients with pathologic complete response (pCR) to preoperative CRT have been reported to have better outcomes than those without pCR. However, the factors that predict the response to neoadjuvant CRT have not been well defined. In this study, we aimed to investigate the impact of clinical parameters on the development of pCR after neoadjuvant chemoradiation for rectal cancer. Methods A total of 323 consecutive patients from a single institution who had clinical stage II or III rectal cancer and underwent a long-course neoadjuvant CRT, followed by curative surgery, between 2005 and 2013 were included. Patients were divided into two groups according to their responses to neoadjuvant therapy: the pCR and non-pCR groups. The clinical parameters were analyzed by univariate and multivariate analyses, with pCR as the dependent variable. Results Of the 323 patients, 75 (23.2%) achieved pCR. The two groups were comparable in terms of age, sex, body mass index, tumor stage, tumor location, tumor differentiation, radiation dose, and chemotherapy regimen. On multivariate analysis, a pretreatment carcinoembryonic antigen (CEA) level of ≤5 ng/mL [odds ratio (OR) = 2.170, 95% confidence interval (CI) = 1.195–3.939, P = 0.011] and an interval of >7 weeks between the completion of chemoradiation and surgical resection (OR = 2.588, 95% CI = 1.484–4.512, P = 0.001) were significantly associated with an increased rate of pCR. Conclusions The pretreatment CEA level and neoadjuvant chemoradiotherapy-surgery interval were independent clinical predictors for achieving pCR. These results may help clinicians predict the prognosis of patients and develop adaptive treatment strategies.