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The role of autophagy in ionizing radiation (IR)-induced primary ciliogenesis in glioblastoma cells was explored. M059K and M059J cells underwent treatment with either 10 Gy of X-rays or serum starvation (SS) for three days. Subsequently, the primary cilia were examined through immunofluorescence staining targeting ciliary markers Arl13b and γ-tubulin. Cellular autophagy levels were estimated by immunofluorescence staining for the autophagy marker LC3 and immunoblotting analysis of p62. To assess primary ciliogenesis, M059K and M059J cells were treated with chloroquine (CQ) or rapamycin (RAPA), which respectively suppressed or activated cellular autophagy. The findings revealed that in M059K, the proportion of ciliated cells was approximately 40%, and this proportion increased to over 75% on day 3 post-irradiation in cells treated with 10 Gy of X-rays (p

Ferroptosis and disulfidpthosis are associated with various diseases. Ferroptosis is distinguished by abnormal accumulation of iron ions and lipid reactive oxygen species, while disulfidptosis is marked by abnormal accumulation of disulfides. Solute carrier family 3 member 2 (SLC3A2), a component of the solute carrier family, is implicated not only involved in the regulation of tumor cell proliferation, migration, invasion and apoptosis, but also in the processes of ferroptosis and disulfidptosis, playing a pivotal role in tumor growth and progression. This article provides an overview of the latest advancements in understanding the relationship between SLC3A2 and ferroptosis, disulfidptosis and tumors, aiming to establish a theoretical basis for targeted cancer therapies. [ABSTRACT FROM AUTHOR]

Lymphangioleiomyomatosis (LAM) is a rare, multisystemic, low-grade neoplasm character-ized by diffuse cystic lesions in the lung.In recent years, emerging imaging examination such as 68Ga-NEB PET-CT scan provides efficient and precise non-invasive diagnostic methods to detect lymphatic circulation abnormalities in LAM patients. The long-term efficacy and safety of sirolimus for LAM has accumulated further evidence, and genetic profiling studies have unveiled more information of genetic mechanisms. Prognosis of LAM has been much improved. We briefly reviewed the research advances of LAM in China and other countires.

A surface fault location of conveyor belt based on saliency and deep convolution neural network was proposed. The method imprints figures on the edge of upper and lower surfaces of conveyor belt, and uses image processing technology to detect the number in belt image, so as to indirectly locate surface fault of the conveyor belt. Firstly, the acquired image of the conveyor belt is preprocessed by Gaussian filtering and gray-scale linear transformation to improve image quality and enhance contrast between the background and the target. Then, visual saliency treatment is conducted to the preprocessed image according to spectral residual theory, and a visual saliency map containing numeric regions is obtained. Finally, saliency map is classified by using the convolution neural network to distinguish digital region from non-digital region. The experimental results show that the method can detect number of conveyor belt image and realize surface fault location of conveyor belt.

The graphene oxide (GO) was prepared by a modified hummer's method and then reacted with a proper amount of cyclodextrin solution, hydrazine hydrate and ammonia water to obtain a cyclodextrin/GO composite. The amounts of adsorption of the composite for Cu2+ were measured at different pH values, time and temperatures. The results indicated that the cyclodextrin/GO composite exhibited an excellent adsorption capability to Cu2+ in aqueous solutions, and its adsorption capacity reached 212. 44 mg/g after 24 h under the neutral condition, presenting the adsorption efficiency of 83. 46 %. Such a result was mainly due to the large surface area of the graphene oxide and the electrostatic attraction of the surface oxygen-containing groups to Cu2+ as well as the cavity structure of cyclodextrin. [ABSTRACT FROM AUTHOR]

At present, dimension-positioning method is adopted as the main method for grasping tissue culture seedlings in tissue culture transplanting equipments. But the majority of gripper structure based on dimension-positioning is complex, which causes that the precision of the operation can not be improved. Meanwhile, young tissue culture seedlings will certain be damaged by the gripper in the process of clipping, which affects the survival rate of the transplanted tissue culture seedlings. To solve such problems, this study designed a force-positioning pickup system based on vacuum adsorption, which can transplant banding tissue culture seedlings. The pickup system for tissue culture seedlings mainly consists of three parts, including vacuum production part, negative pressure detection part and the suction nozzle part. The suction nozzle part is the key part, which decides the holding effect of tissue culture seedlings. The core of suction nozzle is inner soft tube made of silicone rubber with a metal shaping pipe sleeved outside. To increasing the adsorption area, the suction nozzle lip is shaped as oblong. In this paper, design and experiments are both mainly focused on the structure and parameter of suction nozzle. The process that suction nozzle picks up a tissue culture seedling can be divided into two phases: adsorption phase and holding phase. In adsorption phase, negative pressure flow field in the suction nozzle, which is generated by the vacuum generator, will help the seedling overcome its gravity, so that the seedling can be absorbed and adhered to the suction nozzle lip closely. In holding phase, the suction nozzle lip and the stem of tissue culture seedling joint closely, and a vacuum cavity emerges with less leakage in the suction nozzle, then the vacuum cavity generates the force for holding the tissue culture seedling. In adsorption phase, there are two schemes about negative pressure inner cavity of suction nozzle, and they are deformed cavity and parallel cavity. To get the average velocity of flow field near suction nozzle lip, simulation analysis have been carried out based on each of the two cavity with CFD (computational fluid dynamic) software in adsorption phase. The corresponding verification test also have been done, and the results supported that deformed cavity will be used in the pickup hand system because the suction nozzle using deformed cavity can produce flow field with higher velocity, and hold tissue culture seedling more steadily. In holding phase, a series of orthogonal experiment, single factor experiment and interaction experiment were carried out, to test the impact factor about tissue culture seedling holding strength, including thickness of suction nozzle tube, diameter of suction nozzle tube, radius of oblong suction nozzle lip and height of suction nozzle lip. The experiments results show that the optimum parameters for the tissue culture seedlings of suction nozzle are 0.5 mm thickness of suction nozzle tube, 6 mm diameter of suction nozzle tube, 0.7 mm radius of oblong suction nozzle lip and 1.5 mm height of oblong suction nozzle lip in experiments. With these optimum impact factors, suction nozzle can hold banding tissue culture seedlings steadily whose diameters range from 1.2 to 2 mm. It is noteworthy that overall success rate of negative pressure pickup system for banding tissue culture seedling can reach up to 98%, which successfully meets the requirements of insertion in next operation for transplantation. [ABSTRACT FROM AUTHOR]

With the improvement of people's living standard in China, the demand for flowers has been increasing annually, and further the sleeving requirement of potted flowers is also rising. The sleeving requirement is indicated to sleeve transparent packing bags for potted flowers. Packing bags are designed to beautify and protect potted flowers during transportation. In order to improve productivity, many large-scale enterprises producing potted flowers in Europe are using sleeving machine to sleeve potted flowers. But there are some problems due to the differences of bag type and producing process when foreign sleeving machine is used in China, along with the high price of foreign machines being 5-10 million Yuan. Now the automated production technology of greenhouse horticultural production in Netherland has reached the leading position in the world. The Netherlands has been developing automated sleeving machine for potted flowers. However, the sleeving machines have a problem, i.e., their opening bag mechanisms occasionally unsuccessfully make bag opening, because there is not a unit to keep bag from falling. According to the requirements of the domestic market and the instability problems of opening bag for small-size sleeving machines whose productivity are 1 200 pots/h, it is proposed to develop a hooking bag unit based on the above opening bag mechanism. The hooking bag unit can prevent the bag falling from the suckers during opening period, which will improve sleeving success ratio. The hooking bag unit is mainly constituted with push cylinder, hooking bag claw, link and synchronized shaft, etc. In this paper, based on the overall design of the opening bag mechanism, the main structural parameters of the sucker, moving unit to open bags and hooking bag unit were determined. First, according to the characteristics of packing bags, we chose the sucker type. Second, based on external diameter of the biggest pot and fixed hole spacing, the sucker spacing has been determined. Third, according to moving process of opening bag mechanism, moving unit to open bags has been designed. At last, based on performance characteristics of opening bag mechanism, hooking bag unit has been designed. Using the opening bag mechanisms without hooking bag unit and with hooking bag unit, opening bag performance experiments have been completed respectively to examine the opening bag characteristics. Results are as follows. In the experiment without hooking bag unit, to keep opening bag success ratio being greater than 90%, opening velocity of the sucker must be less than 0.3 m/s, and consumed time for opening bag was greater than 0.5 s. In the experiment with hooking bag unit, spacing between claw and sucker, and the widths of hooking bag claw were determined to be 2 and 4 mm, respectively. After an additional hooking bag unit being used, the opening velocity of sucker could be increased to 0.41 m/s, and consumed time for opening bag was just 0.37 s which could save 0.21 s compared with no hooking bag unit, meanwhile opening bag success ratio also could keep greater than 95%. For a sleeving machine whose opening bag mechanism had not a hooking bag unit, its productivity could achieve 1 200 pots/h, and consumed time for packing one pot (packing cycle time) was 3 s, so that according to above experiment results, when using the hooking bag unit, packing cycle time could be saved by 0.21 s with a success ratio of opening bag as high as 95%. It meant that the productivity of sleeving machine for potted flowers could enhance by 7.3% by using the hook bag unit. [ABSTRACT FROM AUTHOR]

The inclined inserted grafting machine is mainly used for melon and vegetable grafting,and the grafting operations include rootstock clamping, rootstock punching, scion clamping, scion cutting, and scion inserting to the rootstock. The seedling pressing mechanism has been commonly used to flat rootstock cotyledons and expose the growing point to make sure the normal operation of rootstock punching and scion inserting inclined during the grafting operation of vegetable grafting machine. Due to the structure of the seedling pressing mechanism being complex and flatting operation being time-consuming, an air suction clamp of rootstock cotyledons has been developed to simplify the structure of the rootstock clamping mechanism, and the productivity of grafting could be improved. The cotyledons are being pressed into the suction holes of the air suction clamp while the rootstock was placed into the air suction clamp, and then are adsorbed to the upper surface of the air suction clamp through negative pressure. Using standard seedlings of fig-leaf gourd rootstock seedlings and cucumber scion seedlings which were normally used in grafting production as experimental material, determination tests on rootstock cotyledons flatting property and optimization tests of structure and the operation parameters on air suction clamp of rootstock cotyledons were conducted to determine the optimized structure and operation parameters of the air suction clamp, and a performance comparison test between the rootstock clamp with seedling pressing mechanism and air suction clamp of rootstock cotyledons based on 2JC-600B inclined inserted into the vegetable grafting machine was conducted. To discuss the effects on the success rate of rootstock cotyledons flatting and success rate of grafting by rootstock types, skilled degree of the grafting operator, and time of placing rootstock. Results indicated that, with 0.25 MPa of working pressure of the pneumatic system, 4 mm of diameter of suction hole, and 30 mm of distance from suction hole to growing point, flatting effect of air suction clamp of rootstock cotyledons was optimal, with 100% success rate of cotyledons flatting. Comparing to rootstock clamp with seedling pressing mechanism,using the air suction clamp of rootstock cotyledons could lighten the effects of the operator level on the operating performance of the grafting machine and improve the success rate of rootstock cotyledons flatting and grafting significantly. For skilled operator, using the air suction clamp for grafting could reduce the time of placing rootstock under the grafting requirement, and the productivity of grafting could be increased from 514 plants/h to 600 plants/h, by 16.7%. With 3.5s of time of placing rootstock, the combination of air suction clamp and skilled operators, success rate of rootstock cotyledons flatting was at 95%, the success rate of grafting was 94%, the productivity of grafting was at 600 plants/h. These results could fulfill the production requirements of grafting and be used for a reference to design an inclined inserted grafting machine. [ABSTRACT FROM AUTHOR]

According to the characteristics of low porosity and low permeability in Huaqing Oilfield, a kind of carboxymethyl hydroxypropyl (CMHPG) fracturing fluid was developed with concentration of 0.25%. The fluid has strong sand-carrying ability and through gel breaking. The residue content of CMHPG was only 128 mg/L. And reduce the effect on sand-carrying ability came from high concentration of calcium and magnesium ions in water. It has achieved good application results in Huaqing chang-6 reservoir of Changqing Oilfield. After fracturing transformation, the six months' average production index of 23 test wells was 1.4 times as high as the compared well of the same well group. Using CMHPG fracturing fluid is one of the highly effective ways to stimulate the lowpermeability reservoirs. [ABSTRACT FROM AUTHOR]

Non-steroidal anti-inflammatory drugs-exacerbated respiratory disease （N-ERD） is a chronic respiratory disease characterized by eosinophilic inflammation, featuring chronic rhinosinusitis （CRS）, asthma, and intolerance to cyclooxygenase 1 （COX-1） inhibitors. The use of these medications can lead to an acute worsening of rhinitis and asthma symptoms. This condition has not yet received sufficient attention in China, with a high rate of misdiagnosis and a lack of related research. The Chinese Rhinology Research Group convened a group of leading young experts in otolaryngology from across the country, based on the latest domestic and international evidence-based medical practices to formulate this consensus.The consensus covers the epidemiology, pathogenesis, clinical manifestations, diagnostic methods, and treatment strategies for N-ERD, including pharmacotherapy, surgery, biologic treatments, and desensitization therapy. The goal is to improve recognition of N-ERD, reduce misdiagnosis, and enhance treatment outcomes., Competing Interests: The authors of this article and the planning committee members and staff have no relevant financial relationships with commercial interests to disclose., (Copyright© by the Editorial Department of Journal of Clinical Otorhinolaryngology Head and Neck Surgery.)

Objective: To explore the clinical characteristics and genetic basis of two Chinese pedigrees affected with Joubert syndrome., Methods: Clinical data of the two pedigrees was collected. Genomic DNA was extracted from peripheral blood samples and subjected to high-throughput sequencing. Candidate variants were verified by Sanger sequencing. Prenatal diagnosis was carried out for a high-risk fetus from pedigree 2., Results: The proband of pedigree 1 was a fetus at 23 +5 weeks gestation, for which both ultrasound and MRI showed "cerebellar vermis malformation" and "molar tooth sign". No apparent abnormality was noted in the fetus after elected abortion. The fetus was found to harbor c.812+3G>T and c.1828G>C compound heterozygous variants of the INPP5E gene, which have been associated with Joubert syndrome type 1. The proband from pedigree 2 had growth retardation, mental deficiency, peculiar facial features, low muscle tone and postaxial polydactyly of right foot. MRI also revealed "cerebellar dysplasia" and "molar tooth sign". The proband was found to harbor c.485C>G and c.1878+1G>A compound heterozygous variants of the ARMC9 gene, which have been associated with Joubert syndrome type 30. Prenatal diagnosis found that the fetus only carried the c.485C>G variant. A healthy infant was born, and no anomalies was found during the follow-up., Conclusion: The compound heterozygous variants of the INPP5E and ARMC9 genes probably underlay the disease in the two pedigrees. Above finding has expanded the spectrum of pathogenic variants underlying Joubert syndrome and provided a basis for genetic counseling and prenatal diagnosis.

This paper aims to detect the antigens in porcine circovirus type 2 (PCV2) vaccines by high-performance size-exclusion chromatography (HPSEC) coupled with multi-angle laser light scattering (MALLS). With purified inactivated PCV2 and PCV2 virus-like particles (VLP) as references, two inactivated vaccines (a and b) and two VLP vaccines (c and d) for PCV2 from four manufacturers were analyzed by HPSEC-MALLS after demulsification. The antigen peaks in HPSEC-MALLS were identified by PCV2 antigen test strips, Western blotting and transmission electron microscope (TEM). The repeatability and linearity of the method were investigated. The results showed the virus antigens in the two inactivated vaccines were eluted at about 13.3 min in HPSEC. The molecular weight of these antigens was 2.61×10 6 (±4.34%) Da and 2.40×10 6 (±2.51%) Da, respectively, as calculated by MALLS. The antigen peaks of the two VLP vaccines also appeared at 13.3 min and the molecular weight was 2.09×10 6 (±2.94%) Da and 2.88×10 6 (±11.85%) Da, respectively, which was close to the theoretical molecular weight of PCV2. Moreover, an antigen peak of VLP vaccine c was observed at 11.4 min and the molecular weight was 4.37×10 6 (±0.42%) Da. The antigen was verified to be the dimer of VLP by TEM. Vaccine d and purified Cap VLP antigens were tested repeatedly, and the RSD of the peak area ( n =3) was all < 1.5%, indicating that the method was repeatable. The purified VLP were diluted in serial and tested for linearity. The result suggested good linear relationship between the peak area of VLP or VLP aggregates and the protein concentration of the sample with R 2 of 0.999 and 0.997, respectively. Thus, the method met the requirement for quantification and aggregate analysis. This method is accurate and efficient in in vitro quality evaluation and improvement of PCV2 vaccine.

Immunotherapy is becoming an effective and less invasive strategy that can be applied to the treatment of various malignancies. Lentiviral vectors (LVs) have shown great potential in immunotherapy as they can stably integrate relatively large foreign DNA, and effectively transduce dividing and non-dividing cells. Clinical application needs high quality LVs, and therefore strict quality control of the final products is necessary to ensure their purity, efficacy and safety. The quantitative detection of LVs is among the key parts of product development and quality control. In this paper, the existing methods for quantitative detection of LVs are summarized, including fluorescence activated cell sorter (FACS), P24 enzyme-linked immuno sorbent assay (P24 ELISA), real-time fluorescence quantitative polymerase chain reaction (RT-qPCR), nanoparticle tracking analysis (NTA), tunable resistive pulse sensing(TRPS) and virus counter(VC).Their advantages and disadvantages are listed, and future development and challenges are discussed.

Objective: To explore the rate and distribution of Runt- related transcription factor 1 (RUNX1) gene mutations in patients with acute myeloid leukemia (AML) and the correlation of these mutations with the clinical characteristics and survival outcomes of the patients., Methods: The genomic DNA extracted from the bone marrow of 158 patients with newly diagnosed AML for PCR amplification of RUNX1 gene and sequence analysis to identify the mutations. The mutations of ASXL1, DNMT3A, TET2, FLT3, CEBPA, NPM1, IDH2, NRAS and c-KIT genes were also examined to analyze their association with RUNX1 gene mutations., Results: Among the 158 AML patients, 19 (12.0%) were found to have RUNX1 mutations in A166G (9 cases), A142T (6 cases) and A162L (4 cases). RUNX1 mutations were more frequent in elderly patients ( P < 0.01) and in cases of AML subtypes M4 and M5, and were associated with more frequent CD36 and CD7 expression as compared with the wild type. RUNX1 mutations were more likely to occur in patients with normal karyotype or karyotypes associated with moderate prognostic risks, but the difference was not significant ( P > 0.05). The patients with RUNX1 mutations had significantly lower complete remission (CR) rate and overall survival (OS) rate than those without the mutations ( P < 0.05). RUNX1 mutations were not associated with gender, white blood cell count upon diagnosis, hemoglobin level, platelet count, bone marrow blast cell ratio or lactate dehydrogenase level ( P > 0.05)., Conclusions: RUNX1 gene mutations are associated with an adverse prognosis of patients with AML.

Objective: To observe the relationship between pulmonary artery systolic pressure (PASP) and acute renal injury (AKI) and prognosis after cardiopulmonary bypass (CPB) heart surgery., Methods: The clinical data of 9 860 patients who underwent CPB heart surgery in Beijing Anzhen Hospital from January 1st, 2015 to December 31st, 2016 were analyzed retrospectively. The patients were divided into two groups according to whether AKI occurred after operation. The clinical data were obtained from hospital information system (HIS) and DoCare including general information, types of operation, preoperative complication, ejection fraction, serum creatinine (SCr), PASP, intraoperative CPB duration, aortic occlusion duration, fluid balance, blood products and drug usage, postoperative mechanical ventilation duration, length of intensive care unit (ICU) and hospital stay, and perioperative central venous pressure (CVP). Multivariate Logistic regression analysis was used to screen the risk factors of AKI after operation. According to the preoperative PASP level, the patients were divided into ≥ 60 mmHg (1 mmHg = 0.133 kPa) group and < 60 mmHg group, and the incidence of AKI and prognosis after operation were compared between the two groups. All patients were followed up by telephone after discharge, and they were divided into survival group and death group according to the follow-up results, and the clinical data were compared between the two groups. Multivariate Cox regression analysis was used to screen the risk factors of long-term prognosis. Kaplan-Meier survival curve was used to analyze the long-term prognosis of two groups with different preoperative PASP levels., Results: 6 285 patients were enrolled in the final analysis. (1) Among the 6 285 patients, 2 592 patients (41.2%) suffered from AKI after operation, of whom 1 697 (65.5%) were stage 1 according to Kidney Disease: Improving Global Outcomes (KDIGO), which was the main type of AKI. Univariate analysis showed that age, preoperative ejection fraction, SCr, PASP, coronary heart disease, hypertension, diabetes, intraoperative CPB duration, aortic occlusion duration, fluid balance, red blood cell input and norepinephrine, dopamine, epinephrine dosage, postoperative mechanical ventilation duration, the length of ICU and hospital stay, and perioperative CVP might be the risk factors of AKI after operation. Multivariate Logistic regression analysis showed that preoperative PASP was one of independent risk factors for AKI in patients undergoing CPB heart surgery [odds ratio (OR) = 4.753, 95% confidence interval (95%CI) was 1.328-8.417, P = 0.004]. The incidence of AKI after operation in PASP ≥ 60 mmHg group was significantly higher than that in < 60 mmHg group [73.8% (712/965) vs. 35.3% (1 880/5 320), P < 0.01]. (2) After a follow-up of (11±3) months, 237 patients (3.8%) died in 6 285 patients. The mortality of patients in PASP ≥ 60 mmHg group was significantly higher than that in < 60 mmHg group [9.5% (92/965) vs. 2.7% (145/5 320), P < 0.01]. Kaplan-Meier survival curve analysis showed that there was a significant difference between the two groups in cumulative survival rate (Log-Rank test: χ 2 = 144.400, P < 0.001). Univariate analysis showed that male, age, preoperative hypertension, ejection fraction, PASP, intraoperative CPB duration, aortic occlusion duration, fluid balance, epinephrine dosage, postoperative mechanical ventilation duration, the length of ICU and hospital stay, and perioperative CVP might be risk factors for long-term death of patients undergoing CPB heart surgery. Multivariate Cox regression analysis showed that for every 1 mmHg increase in preoperative PASP, the long-term mortality increased by 1.126 times [hazard ratio (HR) = 1.126, 95%CI was 1.003-1.604, P = 0.021]., Conclusions: The increase of PASP is related to AKI after CPB heart surgery, which is an independent risk factor for long-term mortality.

We developed a pre-treatment method to remove interfering substances during quantification of 146S antigens in foot-and-mouth disease (FMD) vaccines by high performance size exclusion chromatography (HPSEC). Three methods, including ultracentrifugation, PEG precipitation and nuclease digestion, were optimized and compared for removal efficiency of the interfering impurities in FMD vaccines. Under optimized conditions, the 146S contents in two batches of FMD vaccines were determined to be 7.1 and 7.6 μg/mL by ultracentrifugation, 9.7 and 10.4 μg/mL by PEG precipitation, and 10.5 and 10.4 μg/mL by nuclease digestion. The optimal condition for nuclease digestion using Benzonase determined by response surface method was as follows: appending Benzonase into 200 μL of antigen phase to a final concentration of 421 U/mL and incubating at 25.1 °C for 1.29 h. This method has advantages including efficient removal of the interfering impurities, fast processing speed, and mild operating conditions. Then 12 bathes of FMD vaccines with different serotypes produced by 4 manufacturers were tested to verify the established treatment method. Results showed the method was applicable to various FMD vaccines with good reproducibility (RSD<5.3%, n=3). The developed method removed interference from impurities during quantification of 146S, and therefore would broaden the application of HPSEC in vaccine quality control and ensure the accuracy and reliability.

Objective: To provide genetic testing for two brothers with mental retardation and epilepsy., Methods: Array comparative genomic hybridization (aCGH) was used to detect copy number variations in the two patients, their parents and maternal grandparents. Methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA) was utilized to delineate the deleted region in the pedigree., Results: A 138 kb deletion in 15q11.2 region was detected by aCGH in both patients, which encompassed part of the UBE3A gene. MS-MLPA has narrowed down the region to exons 8 to 14 of the UBE3A gene. The same deletion was also found in their mother and grandfather., Conclusion: The pathogenesis of this rare form of recurrent Angelman syndrome may be attributed to the partial deletion of maternal UBE3A gene.

Objective: To provide prenatal diagnosis for a pregnant woman with a history of Williams-Beuren syndrome pregnancy., Methods: The karyotypes of the fetus and his parents were analyzed with routine G-banding. Their genomic DNA was also analyzed with array comparative genomic hybridization (aCGH)., Results: No karyotypic abnormality was detected for the fetus and his parents. aCGH has identified a de novo 5.09 Mb deletion at 2p13.3-p12 in the fetus., Conclusion: The 2p13.3-p12 microdeletion carried by the fetus was de novo. As it has involved dosage-sensitive genes SPR and DCTN1, the deletion is probably pathogenic.

Objective: To investigate the effect of curcumin against cigarette smoke extract (CSE)- induced oxidative stress in human bronchial epithelial cells and explore the underlying mechanism., Methods: Human bronchial epithelial cell line 16HBE was treated for 24 h with curcumin, CSE, CSE + curcumin, and CSE + curcumin with transfection by a short hairpin RNA targeting PPARγ (shPPARγ). MTT assay was used to observe the changes in the cell viability after the treatments. Quantitative real-time PCR was performed to detect the mRNA expressions of tumor necrosis factor- α (TNF- α ), iNOS and PPARγ in the cells, and the protein expressions of iNOS, PPARγ and the phosphorylation of NF-κB p65 were detected using Western blotting., Results: The treatments did not cause significant changes in the cell viability. Exposure to CSE for 24 h significantly lowered PPARγ expression and increased TNF- α and iNOS expressions and phosphorylation of NF-κB p65 in the cells. The effects of CSE were significantly suppressed by curcumin, but transfection of the cells with shRNA-PPARγ obviously abrogated the suppressive effects of curcumin., Conclusions: Curcumin suppresses CSE-induced oxidative stress and inflammation via the PPARγ/NF-κB signaling pathway in 16HBE cells, suggesting the potential of curcumin in the treatment of chronic obstructive pulmonary disease.

Objective: To analyze the molecular mechanism and prognosis of a child with aortic stenosis and thumb aplasia., Methods: The karotypes of the child and his parents were analyzed with routine G-banding. Their genomic DNA was also analyzed with array comparative genomic hybridization(aCGH) for chromosomal duplications/deletions., Results: No karyotypic abnormality was detected at cytogenetic level for the child and his parents. aCGH identified a de novo 5.86 Mb deletion at 2q22.3-q23.3 in the child., Conclusion: The child was diagnosed with 2q23.1 microdeletion syndrome. MBD5 may be the key gene for the 2q23.1 microdeletion syndrome.

Objective: To perform prenatal diagnosis for a fetus with endocardial cushion defect and explore its mechanism., Methods: The karotypes of the fetus and its parents were analyzed by routine G-banding. Their genomic DNA was also analyzed by array comparative genomic hybridization (aCGH)., Results: The fetus and its mother were found to have a karyotype of 46, XX, inv(8)(p21q24.1), while no karyotypic abnormality was detected for the father. aCGH has detected a 15.14 Mb deletion at 8p23.3-p22 and a 6.87 Mb duplication at 8q24.23-q24.3 in the fetus., Conclusion: The fetus was diagnosed with Rec8 syndrome. Its abnormal chromosomes have derived from the inv(8) carried by its mother. GATA4 and SOX7 may be the key genes for the endocardial cushion defect found in the fetus.

The aim of this study is to quantify the 146S antigen in foot-and-mouth disease virus (FMDV) inactivated vaccine by size-exclusion chromatography (SEC). The analysis was performed on a TSKgel G4000SWXL column (7.8 mm×30 cm), with a pH 7.2 buffer salt system as the mobile phase. The flow rate was 0.6 mL/min, the injection volume was 100 μL and the detection wavelength was 259 nm. The calibration curve was established by using purified inactivated FMDV (serotype O) 146S antigen; 3 batches of vaccine formulated by inactivated antigen solution were tested to verify the accuracy, reproducibility, specificity and tolerability of the method. At last 16 batches of vaccine were determined by the SEC method. Results showed a good linearity between peak area and concentration of 146S antigen in the range between 0.56 and 67.42 μg/mL (R2=0.996, n=10), and the average recovery rate of 146S antigen in the 3 batches of vaccine formulated in lab were 93.6% (RSD=2.7%, n=3), 102.3% (RSD=2.6%, n=3), and 95.5% (RSD=5.1%, n=3). The method was proved accurate and reliable with good reproducibility (RSD=0.5%, n=6), and applied to determine 16 batches of the commercial FMDV vaccine. According to the above results, the SEC method is high effective for 146S antigen quantify in the inactivated FMDV vaccine and would provide strong support for the vaccine quality control.

Objective: To carry out genetic analysis on a child with developmental delay and multiple malformation., Methods: The karotypes of the child and her parents were analyzed with routine chromosomal G-banding. Their genomic DNA was analyzed with array comparative genomic hybridization (aCGH)., Results: The karyotype of the proband was determined as 46,XX,del(6)(q22),inv(6)(p21.1q21), while no karyotypic abnormality was detected in her parents. aCGH has identified in the child a de novo 800 kb deletion encompassing the RUNX2 gene at 6p21.1 and a de novo 11.79 Mb deletion at 6q21-q22.31., Conclusion: Both of the de novo deletions are pathogenic. Deletion of the RUNX2 gene probably underlies the cleidocranial dysplasia in the patient, while the 6q21-q22.31 deletion may result in malformation of the brain.

Objective: To determine the origin of chromosomal aberration in a boy with mental retardation and multiple congenital malformations., Methods: The karotypes of the proband and his parents were analyzed with conventional G-banding. Their genomic DNA was analyzed with array comparative genomic hybridization (aCGH)., Results: No karyotypic abnormality was detected in the proband and his parents. aCGH has identified a de novo 405 kb deletion at 9q34.3 in the proband, which encompassed the EHMT1 gene and part of CACNA1B gene., Conclusion: The de novo 9q34.3 deletion probably underlies the mental retardation and development delay in the boy. EHMT1 may be one of the key genes responsible for 9q34.3 microdeletion syndrome.

Objective: To determine the origin and pathogenicity of a chromosomal aberration for a fetus and analyze the possible mechanism., Methods: The karotypes of the fetus and its parents were analyzed with routine G-banding. Their genomic DNA was also analyzed with array comparative genomic hybridization (aCGH)., Results: No karyotypic abnormality was detected at cytogenetic level for the fetus and its parents. aCGH has identified a de novo 2.04 Mb deletion at 6q27 in the fetus. The region involves candidate genes responsible for structural brain abnormalities. The area flanking the chromosomal breakpoint contains a 2410 bp sequence rich in palindromes which can form stable secondary structures., Conclusion: The de novo 6q27 deletion is pathogenic. The 6q27 deletion may be responsible for the structural brain abnormalities in the fetus. The palindrome sequence flanking the chromosomal breakpoint may be involved the formation of the 6q27 deletion.

Objective: To investigate the protective effect of dynamin-related protein 1 (Drp1) in rats with myocardial ischemia/reperfusion injury (IRI)., Methods: Twenty-four healthy male Wistar rats were randomly divided into three groups (n = 8 each): sham group, IRI model group, and Drp1 inhibitor group. The left anterior descending branch of coronary artery was ligated to produce myocardial ischemia for 30 minutes and reperfusion injury model. Sham group was received only threading without ligation. The Drp1 inhibitor group was injected with 1.2 mg/kg mitochondrial division inhibitor 1 (mdivi-1) at 15 minutes before operation. At 3 hours after reperfusion, hemodynamics, serum myocardial enzymes, mitochondrial membrane potential (MMP), hydrogen peroxide (H 2 O 2 ), reactive oxygen species (ROS) and ATP production were measured in rats. The myocardial tissues were harvested for the determination of the area at risk (AAR) and the infarct area (AI), and the ratio of AI/AAR was calculated. The expression of Drp1 and cytochrome C (Cyt C) was determined by Western Blot., Results: Compared with the sham group, the left ventricular end diastolic pressure (LVEDP), cardiac troponin I (cTnI), MB isoenzyme of creatine kinase (CK-MB), lactate dehydrogenase (LDH), AI/AAR, H 2 O 2 , ROS, protein expression of Drp1 and Cyt C were significantly increased, left ventricular end systolic pressure (LVESP), ejection fraction (EF), fractional shortening (FS), MMP, ATP generation, expression of mitochondrial Cyt C were significantly decreased in IRI model group. Compared with IRI model group, LVEDP was significantly decreased in Drp1 inhibitor group [mmHg (1 mmHg = 0.133 kPa): 8.83±1.20 vs. 16.48±1.80], LVESP, EF, FS were significantly increased [LVESP (mmHg): 116.80±9.78 vs. 87.80±8.82, EF: 0.78±0.11 vs. 0.58±0.07, FS: (48.6±4.1)% vs. (32.4±3.2)%]; myocardial enzymes, H 2 O 2 and ROS were significantly decreased in Drp1 inhibitor group [cTnI (ng/L): 31.9±8.8 vs. 49.2±13.7, CK-MB (U/L): 4.83±1.30 vs. 7.48±2.20, LDH (U/L): 1 327.80±280.20 vs. 1 858.80±324.80, H 2 O 2 : 6.40±1.40 vs. 8.90±1.50, ROS: 41 916.3±6 295.3 vs. 65 182.6±3 777.8], AI/AAR was significantly decreased (0.38±0.01 vs. 0.62±0.01), MMP and ATP were significantly increased [MMP: 0.78±0.13 vs. 0.38±0.07, ATP (μmol/g): 150.8±12.3 vs. 103.7±8.4], the expression of Drp1 was significantly decreased (0.50±0.02 vs. 0.79±0.05), expression of mitochondria Cyt C was significantly increased (0.64±0.04 vs. 0.21±0.01), and expression of cytoplasmic Cyt C was significantly decreased (0.48±0.03 vs. 0.78±0.04), and the differences were statistically significant (all P < 0.05)., Conclusions: Mitochondrial fission was excessively high during IRI, and its function was significantly decreased. Drp1 inhibitor could inhibit the division of mitochondria, and improve its function and cardiac function.

Objective: To conduct genetic diagnosis for a family affected with hamophilia A., Methods: Potential mutations of the F8 gene were analyzed with PCR and Sanger sequencing. Carriers of the mutation were identified through linkage analysis using short tandem repeat (STR) markers. Suspected mutations were verified among 100 healthy controls to rule out genetic polymorphism. Prenatal diagnosis was provided based on the above results., Results: Sequencing analysis has identified two mutations, c.1 A>T and c.4 C>T, which have replaced the start codon (ATG) with leucine (TTG) and glutamine (GAA) with the stop codon (TAA), respectively. The same mutations were not found among the 100 healthy controls. The patient's mother and sister were heterozygous for the same mutations. Upon prenatal diagnosis, the fetus was determined as a male and did not harbor the above mutations. Linkage analysis also confirmed that the fetus has inherited the non-risk X chromosome from his maternal grandfather., Conclusion: Detection of pathogenic mutations can enable prenatal diagnosis for the disease.

Objective: To delineate the nature and origin of chromosomal aberration in a boy with mental retardation and multiple congenital deformities., Methods: The karotypes of the proband and his parents were analyzed with routine G-banded chromosomal analysis. Genomic DNA was also analyzed with array comparative genomic hybridization (aCGH) assay., Results: The karyotype of the proband was 46,XY,add(1)(p36.3). No karyotypic abnormality was detected in either parent. aCGH has identified a de novo 25.1 Mb duplication at 1q42q44 in the proband., Conclusion: The de novo 1q42q44 duplication, which may be due to non-allelic homologous recombination mediated by low copy repeats, probably underlies the abnormalities in the proband.

Objective: To investigate the effect of body temperature control on organ function and prognosis in patients with refractory septic shock., Methods: A total of 67 eligible patients with the body temperature over 38.5 °C were enrolled in the study and all patients were treated with a water-flow cooling blanket to control the body temperature below 38.3 °C for 72 hours. The core and peripheral temperature was tested at 1 hour interval. All patients were devised into the following two groups according to their mean core temperature within the 72 hours: the HT group with a mean core temperature ≥ 37.5 °C and the LT group with a mean core temperature <37.5 °C. Hemodynamic, respiratory, and laboratory parameters were tested every 6 hours during the first 72 hours after the temperature increased above 38.5 °C., Results: Thirty-four patients (50.7%) were classified into the HT group, while thirty-three patients (49.3%) were in the LT group. Compared with the HT group, higher mortality rate at Day 28 was observed in the LT group (69.7% vs 35.3%, P = 0.005). Significant difference in the increase of sepsis-related organ failure assessment (SOFA) score was found between of the HT and the LT groups (1.30 ± 0.90 vs 2.30 ± 2.10, P = 0.02). Statistical differences were observed between the two groups in mean core temperature [(37.90 ± 0.30) °C vs (36.80 ± 0.60) °C, P < 0.000 1], mean peripheral temperature [(37.20 ± 0.30) °C vs (36.30 ± 0.60) °C, P < 0.000 1], minimum core temperature [(36.90 ± 0.30)°C vs (35.80 ± 0.60) °C, P < 0.000 1] and minimum peripheral temperature [(36.20 ± 0.40) °C vs (35.50 ± 0.60) °C, P < 0.000 1], but not in maximum core and peripheral temperature.Statistical difference was also shown in troponin I, fibrinogen, partial thromboplastin and activated partial thromboplastin between the two groups. Cox regression analysis revealed that the mean core temperature was the only independent predictor for the mortality rate at Day 28., Conclusion: Body temperature control within the normal range may exert potentially detrimental effect on organ function and prognosis in patients with refractory septic shock with fever.