Objective:To analyze the clinical and gene mutation characteristics of congenital disorder of glycosylation (CDG) caused by compound heterozygous mutation of the COG6 gene ( COG6-CDG). Methods:This study retrospectively analyzed the clinical data and genetic test results of a patient with COG6-CDG in Bayi Children's Hospital, the Seventh Affiliated Medical Center of Chinese PLA General Hospital, in August 2019. Literature was retrieved with keywords including COG6, COG6-CDG, congenital disorders of glycosylation typeⅡL and congenital disorders of glycosylationⅡL in China National Knowledge Infrastructure, Wanfang Database, VIP Database, PubMed, and Web of Science Database from the establishment to July 2020, to summarize the clinical and genetic characteristics of COG6-CDG. Results:(1) Case report: The 59-day-old baby boy, with a gestational age of 27 +5 weeks and birth weight of 1 180 g, presented with multi-system involvement on admission, including unidentified progressive hepatosplenomegaly with jaundice and ascites, persistent thrombocytopenia, microcephaly, hypotonia, hypohidrosis, hyperkeratosis, and recurrent hyperthermia, infection, and hypoglycemia, as well as dysfunctions of the heart, gastrointestinal tract, lungs, kidneys, ocular fundus, and the coagulation system. Despite given ventilator-assisted ventilation, anti-infection therapy, abdominal puncture and drainage, and blood transfusion, the patient still had an aggravated condition and eventually died of multiple organ failures 192 d after birth. Genetic analysis showed that the nuclear family carried compound heterozygous mutations in the COG6 gene (NM_020751.2), including missense mutations of c.662C>T(p.T221M) in exon 7 and c.443T>C(p.I148T) in exon 5, which were both novel mutations and originated from the mother and father, respectively. (2) Literature review: Eight related papers were retrieved, including 20 cases. The main manifestations were various degrees of nervous system abnormalities and growth retardation, complicated by abnormalities of the liver, heart, gastrointestinal tract, blood, immunity, teeth, and bones. All the reported cases suffered from mental and growth retardation, and nine deaths were reported. A total of 11 COG6 gene mutations were identified, and most of them were c.1167-24A>G splicing mutations in a deep intron (seven cases), followed by c.1646G>T (four cases) and c.511C>T (three cases). Conclusions:COG6-CDG commonly manifests as multi-system and multi-organ dysfunctions with poor prognosis. Gene detection is conducive to the accurate diagnosis of COG6-CDG. Our case carries compound heterozygous mutations of c.662C>T(p.T221M) and c.443T>C(p.I148T), which are unreported novel mutations.

Objective To observe the changes in plasma leptin in type 2 diabetic patients after treatment with ?-glucosidase inhibitor (Acarbose) and investigate the relationships between them.Methods A 8-week randomized double-blind was performed to compare the effects of treatment with Acarbose (50mg, tid) in 43 type 2 diabetic patients. Results (1) When type 2 diabetics compared with non-diabetic controls, fasting plasma glucose(FPG), 2-hr of postprandial plasma glucose (2hBG), A1C, fasting insulin(FIns), triglyceride(TG) and cholesterol(TC)were elevated significantly,2-hr of postprandial insulin(PIns), HDL-C were decreased(P0.05).(3)In type 2 diabetes, there were positive relationships between leptin and BMI, leptin and fasting insulin , leptin and 2-hr of postprandial insulin.(4)After 8 weeks of treatment with acarbose, FPG, 2hBG, A1C, FIns, PIns,Ch and TG decreased significantly (P0.05).Conclusions: When age, gender, and BMI were matched with the controls, the level of leptin in type 2 diabetic patients still has no difference. Acarbose may lower the change in leptin and improve hyperinsulinemia.

Objective To compare imaging quality and radiation dose on full-field digital mammography (FFDM) system and dual-sided reading CR mammography (DSCRM) system.Methods The TRM of ALVIM statistics phantom was exposed by FFDM system and (DSCRM) with the same radiation dose.The exposure parameters and the entrance surface dose (ESD) were recorded.Then,the phantom was exposed by DSCRM system with different mAs and same kV,and the ESD was recorded.The images obtained above were read by three radiologists on the monitor of diagnosis work station with the same window width and window level.The evaluation of the images were given using a five-level confidence scale.ROC curves were drawn and probability Pdet were calculated.Results The ROC analysis of microcalcifications and masses showed A(z) values of 0.730-0.925 and 0.670-0.945 for FFDM,and 0.632-0.815 and 0.575-0.785 for DSCRM when the radiation dose is 1.36 mGy.The radiation dose with DR system could be reduced compared with dual-sided reading CR system at the same probabilities Pdet,the ESD reduced from 1.63 mGy to 1.36 mGy by 19.8％,the AGD reduced from 0.65 mGy to 0.56 mGy by 16.0％.Conclusions The observable details with FFDM system were proved to be superior to DSCRM system at the same radiation dose.With the similar image quality,the radiation dose of FFDM system was less than the DSCRM system.

Objective To summarize adverse reactions of common traditional Chinese medicine injection for the treatment of cardiovascular and cerebrovascular diseases,and put forward the countermeasures.Methods Adverse reactions of common traditional Chinese medicine injection for the treatment of cardiovascular and cerebrovascular diseases were arranged,and the reasons were analyzed.Results Adverse reactions were mainly skin and cardiovascular system diseases and so on,and were related with the quality of medicinal material,preparation process,and so on.Conclusion We should strengthen every link of production,from the medicinal plant to clinical use,improve the quality of traditional Chinese medicine injection,and strengthen the supervision to reduce the incidence of adverse reactions and ensure drug safety.

Objective To analyse the relationship between pre-stroke sleep quality and post-stroke insomnia. Method One hundred nineteen hospitalized patients with cerebral infarction within 2 weeks from onset were recruited during April 2018 and August 2018. Sleep quality of pre- and post-stroke evaluated by Pittsburgh sleep quality index (PSQI) were collected. According to the post-stroke PSQI＞5,119patients were divided into insomnia group and non-insomnia group. Multivariate logistic regression model was used to explore the independent risk factors for insomnia after stroke. Result Among the 119 patients, the prevalence of post-stroke insomnia was 55.5% and pre-stroke sleep quality was significantly relative to post-stroke insomnia (OR=1.405,95%CI 1.196～1.650,P＜0.05). Conclusion Pre-stroke sleep quality is correlated to post-stroke insomnia.

Objective To investigate the influences of different matrix stiffness on proliferation ability and glucose metabolism of hepatocellular carcinoma (HCC) cells and to explore the correlation between metabolism and biological behavior changes of HCC cells resulted from the stiffness of extracellular matrix (ECM)．Methods The proliferation changes of HepG2 cells cultured on matrix with different stiffness were detected by CCK-8 assay and cell count assay. 2-NBDG and flow cytometry were used to detect the effect of matrix stiffness on glucose uptake. Real-time fluorescence quantitative polymerase chain reaction (qRT-PCR) was used to detect the expression level of Glut1. Then, 2-DG was used to inhibit glycolysis, and the influences of matrix stiffness on proliferation of HepG2 cells were detected. Results The proliferation ability, glucose uptake and the expression of Glut1 of HepG2 cells increased with the matrix stiffness increasing. When glycolysis was inhibited, the proliferation ability of HepG2 cells grown on matrix with different stiffness was similar. Conclusions The mechanical microenvironment had an important effect on proliferation of HCC cells; matrix with a larger stiffness might promote proliferation of HCC cells through regulating glycolysis. The research findings provide a corresponding experimental basis for the clinical treatment of HCC cells and drug development targeting glucose metabolism.

OBJECTIVE: To compare laboratory and clinical outcomes of fertilization-embryo transfer (IVF-ET) in patients with endometriosis using antagonist protocol, long agonist protocol or prolonged agonist protocol. METHODS: Totally 313 patients with endometriosis were recruited in Reproductive Centers of the Second Affiliated Hospital of Zhejiang University School of Medicine,Jiaxing Women and Children's Hospital,and Ningbo Women and Children's Hospital from April 2017 to October 2018, including 81 patients treated with antagonist protocol (antagonist group), 148 treated with long agonist protocol (long agonist group) and 84 treated with prolonged agonist protocol (prolonged agonist group). The clinical and laboratory data of the patients were retrospectively analyzed to investigate the effect of ovarian stimulation protocols on the IVF-ET outcomes of patients with endometriosis. RESULTS: The average age in the antagonist group patients was significantly higher than those in the other two groups (all <0.05),and anti-mullerian hormone (AMH) level and antral follicle numbers were significantly lower than those in the other two groups (all <0.01). The numbers of average retrieved oocyte, fertilized oocyte and available embryo in the antagonist group were significantly lower than those in the long agonist group (all <0.05), but were similar with those in the prolonged agonist group (all >0.05). Fertilization rate and available embryo rate were comparable among the three groups (all >0.05). Considering analysis per cycle with embryo transfer, the human chorionic gonadotrophin (HCG) positive rate, clinical pregnancy rate and total implantation rate showed no significant difference among the three groups (all >0.05). The implantation rate after fresh embryo transfer in the antagonist group was lower than that in the long agonist group (<0.05), but was similar with that in the prolonged agonist group (>0.05). While the implantation rate of freeze-thaw embryo transfer showed a higher trend in the antagonist group, but there was no significant difference (>0.05). The patients were further divided into diminished and normal ovarian reserve subgroups, the per cycle with embryo transfer, the HCG positive rate, clinical pregnancy rate and total implantation rate still showed no significant difference between two subgroups (all >0.05), no matter in which ovarian stimulation protocol groups. Besides, in women with diminished ovarian reserve, the available embryo rate in antagonist group was significantly higher than that in the long agonist group (<0.05). The amount and duration of Gn application in antagonist group were significantly lower than those in long and prolonged agonist groups (all <0.05). CONCLUSIONS Patients with endometriosis who used the antagonist protocol in IVF procedure could reduce the cost and time of Gn treatment, when combined with frozen-embryo transfer strategy the antagonist protocol has comparable clinical pregnancy outcome with long or prolonged agonist protocol, especially in those with diminished ovarian reserve, the higher available embryo rate can be achieved.
Embryo Transfer ; Endometriosis ; therapy ; Female ; Fertilization in Vitro ; Humans ; Ovulation Induction ; methods ; Pregnancy ; Retrospective Studies