Meckel-Gruber syndrome is a rare,fatal disease.The rate of natal morbidity worldwide is from 1/140 000 to 1/13 250.With the development of ultrasound and molecular diagnosis technology,especially the emergence of the third generation of in vitro fertilization (IVF) and prenatal genetic diagnosis (PGD),it is possible for the genetic carriers to solve the fertility problems.In this review,the recent insight of Meckel-Gruber syndrome diagnostic criteria,possible pathogenesis and differential diagnosis of other diseases were discussed.Through the introduction of the disease,it is hoped to improve clinical understanding of the disease and remind the clinicians pay more attention to rare genetic disorders.It is helpful to improve the ability of the clinical diagnosis of the disease and other rare genetic disorders,and provide eugenic counseling and clinical guidance to the affected families.

Objeetive To evaluate the effect of single-level Discover cervical artificial disc replacement on cervical sagittal alignment.Methods Retrospective analysis was conducted on patients who underwent single-level Discover cervical artificial disc replacement in our hospital from February 2012 to September 2014.Sixty-two patients (34 males,28 females) with an average age of 45.2±8.2 (31-61) who were diagnosed with single-level cervical disc herniation were included (C3-4 3 cases,C4-5 12 cases,C5-6 34 cases,C6-7 13 cases).We measured the cervical sagittal alignment parameters:index level disc angle,functional spinal unit (FSU) angle,C2-C7 angle, anterior disc height (ADH),middle disc height (MDH),posterior disc height (PDH),anterior FSU height (AFH),middle FSU height (MFH),posterior FSU height (PFH) on neutral lateral radiographs before surgery and 3 months after surgery.Results All of the patients were followed up for 3 months.The cervical sagittal alignment parameters before surgery and 3 months after surgery were as follows.Index level disc angle increased from 0.0°±4.2° to 7.3°±3.9°,FSU angle increased from 2.3°±5.0° to 6.9°±4.8°,C2-C7 angle increased from 9.5°±10.8° to 13.1°±9.1°,ADH increased from 4.3±1.0 mm to 7.9±1.1 mm,MDH increased from 5.8±0.9 mm to 8.1±0.9 mm,PDH increased from 3.7±0.9 mm to 5.5±0.9 mm,AFH increased from 34.1±3.5 mm to 36.2±3.4 mm,MFH increased from 32.3±3.5 mm to 33.6±3.3 mm,PFH increased from 33.9±3.5 mm to 34.6±3.2 mm.All changes were statistically significant (P＜0.05).Conclusion Single-level Discover cervical artificial disc replacement can improve the disk angle,FSU angle,and disk height effectively in early follow-up period,thereby improving the cervical sagittal alignment.

Objective To determine the independent risk factors for postoperative nausea and vomiting (PONV) after endoscopic retrograde cholangio-pancreatography (ERCP) under total intravenous anesthesia.Methods Ninety patients,47 males and 43 females,aged 18 years old or more,falling into ASA physical status Ⅰ-Ⅲ,undergoing ERCP under total intravenous anesthesia from July 18,2016 to August 31,2016 in Ruijin Hospital were included in our study.General information and intraoperative situation of patients were collected.The incidence of PONV within 24 h was recorded.A multivariate Logistic regression model was performed to analyze the independent risk factors of PONV after ERCP under total intravenous anesthesia.Results In total,90 patients were included in this study,with 33 patients (36.7%) suffering PONV.Logistic analyses showed that female (OR=3.73,95%CI 1.36-10.27),history of PONV/motion sickness(OR=4.39,95%CI 1.40-13.76),and serum-amylase greater than 3 times the normal value (OR=5.22,95%CI 1.30-20.95) were the independent risk factors for PONV after ERCP under total intravenous anesthesia.Conclusion Female,history of PONV/motion sickness,and serum-amylase greater than 3 times the normal value were the independent risk factors for PONV after ERCP under total intravenous anesthesia.

ObjectiveTo investigate the effort of MHA-bBMP implantation combined with limited contacted titanium net duct fixation on femoral shaft bone defect of rabbit.Methods48 rabbits were divided into the experimental group (treated with bionic bone MHA-bBMP plus titanium net duck) and control group (treated with iliac autograft plus titanium net duct) with 24 animals in each group. The rabbit femoral shaft bone defect model was established by cutting 10 mm bone fragment off. After operation, bionic bone MHA-bBMP/iliac autograft was implanted into bone defect area and fixed with limited contacted titanium net duck. The general condition, serum alkaline phosphatase, X-ray, histopathologic examination and electron microscope were performed.ResultsThe fixation stability of titanium net duck in two groups was good. The bone defect of two groups was repaired. The results of phosphatase, X-ray, histopathologic examination and electron microscope of two groups were not significantly different.ConclusionBionic bone MHA-bBMP is a high bioactivity substitute, and can obtain therapeutic effect equal to iliac autograft when repairing rabbit's femoral shaft defect.

Objective:To study the direct effects of gradient concentration inteiferon-a(IFN-a) on lymphoma cells line Daudi and Jur-kat and a group of 15 cases refractory lymphoma. Methods: The effects of IFN-a on the growth of tumor cells were assayed by MTT, apoptosis were measured by flow cytometty, TUNEL and electron-microscope, 15 refractory lymphoma cases were treated by local injection of IFN-a combination chemotherapy.Results: Low-dose IFN-a did not have any significant effects on growth of Daudi and Jurkat cells, high-dose IFN-a (10 000U/ml) not only have significant anti-proliferative effects with dependence of time and dosage but also can induce apoptosis on both Daudi and Jurkat cells. 5 patients achieved a complete remission and 7 patients achieved a partial remission, the overall response rate was 80% .Conclusion:IFN-a( 10 000 U/ml) had significant anti-proliferative effects and inducing apoptosis on lymphoma cells.Local injection of IFN-a is one of effective therapy on refractory lymphoma.

Objective To explore the syndrome of vital energy deficiency and blood stasis of CHF rat model. Methods The Wistar male rats were deligated the main stem of left coronary artery. The succeeded twenty rats were cut the diet half from the second week, and swam exhausted every day, compared with normal group. After four weeks, the general condition, heart function, heart construction and NE, PRA, AngⅡ,TXB2, PAI-1 were observed. Results General condition: Model group seemed tired, pelage dimed, tongue ecchymosis, meanwhile breath and heart rate raised. Heart function: There was significant difference between model group and normal group (P

Objective:To investigate the feasibility of marrow stromal cells/ceramic bovine bone/hydrogel in the repair of autogenous calvarial defects. Methods:The complex of ceramic bovine bone,hydrogel,rhBMP-2,TGF-? and marrow stromal cells(MSCs) induced by minerlization inducing medium was prepared and applied in the repair of autogenous calvarial defects in 8 SD rats(group A).Ceramic bovine bone /MSCs was used as control in another 8 SD rats(group B). 4 and 8 weeks after operation 4 rats in each group were sacrificed, the osteogenesis was examined by HE staining,modified Mallory's trichrome staining and image analysis.Results:4 weeks after operation, osseous plerosis can be seen in both groups, the quantity of bone-like tissues formation(?m~2) in group A and group B was 6 813.09?96.32 and 3 839.25?104.52(P

Objective: In order to reveal the mechanisms of rh-endostatin and its suppression effect on HUVECs at different activating levels. Methods: Three types of HUVEC were prepared. We detected the ex-pression of CD105 and CD62E on the surface of adhering HUVEC, HUVEC of exponential phase of growth, and HUVEC activated with TNF-alpha. The effect of endostatin on these three types of HUVEC was indicated by the variation in the expression of CD105 and CD62E on the cells. The relationship of the changes in cell markers with the time and the concentration of endostatin was analyzed by SPSS 11.5. Results: The expres-sion of CD105 was correlated with time and dose of endostar in all groups. The expression of CD62E was cor-related with the dose of endostar in HUVEC treated with TNF-α for 24h. Conclusion: Endostatin of a certain dose can inhibit the activation of endothelial cells but it cannot induce cell apoptosis.

Objective To survey the clinical effect of combination therapy of Ninggan-Tiaozhong decoction and psychological intervention for chronic atrophic gastritis (CAG).Methods 80 cases CAG were randomly divided into a treatment group (treated with Ninggan-Tiaozhong decoction and psychological intervention) and a control group (treated with Ninggan-Tiaozhong decoction),with 40 cases in each group and performed a therapy for 12 weeks.The clinical efficacy and the change of Symptom Checklist (SCL-90)and Self-Rating Anxiety Scale(SAS) before and after treatment were evaluated.Results After 12 weeks of treatment,the total effective rate was 90.0％ in the treatment group,and 74.4％ in the control group.The treatment group was better than the control group(x2=4.255,P＜0.05).After psychological intervention,SCL-90 and SAS score (39.5±4.3,1.3± 0.6)was significantly reduced in the treatment group than the control group (51.4±3.2,1.5±0.3),(P＜0.05).Conclusion The combination therapy of Ninggan-Tiaozhong decoction and psychological intervention used in CAG is effective to relieve symptoms and to improve life quality of patients.

Chordoma ; metabolism ; pathology ; Diagnosis, Differential ; Elbow ; Humans ; Immunohistochemistry ; Male ; Mucin-1 ; metabolism ; Myoepithelioma ; metabolism ; pathology ; surgery ; Soft Tissue Neoplasms ; metabolism ; pathology ; surgery ; Vimentin ; metabolism ; Young Adult