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.

Humans ; Nasal Septum ; surgery ; Nose Deformities, Acquired ; surgery ; Sinusitis ; surgery

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 observe the impact of RNA interference-induced ADAR1 down-regulation on cell proliferation of liver cancer.Methods Small interfering RNA (siRNA) was transfected into liver cancer cell line SMMC-7721.ADAR1 expression was detected by RT-PCR and Western blotting.Cell proliferation was determined by methyl thiazol tetrazolium (MTT) assay.Results After transfection for 24,48,and 72 h,ADAR1 mRNA expression was 0.612 ± 0.086,0.264 ± 0.018,0.156 ± 0.063 in experimental group and 1.032 ± 0.107,0.898 ± 0.092,0.968 ± 0.074 in control group,respectively.Experimental group had significantly lower ADAR1 mRNA than the other groups (P ＜ 0.05),and there was no statistically significant difference between control and blank group (P ＞ 0.05).ADAR1 protein relative expression was 0.684 ± 0.079,0.324 ± 0.042,0.145 ± 0.058 in experimental group and 1.002 ± 0.092,0.917 ± 0.068,0.972 ± 0.073 in control group,respectively,which was statistically significant (P ＜ 0.05).After transfection with siRNA,the proliferation ability of SMMC-7721 cells was enormously inhibited (P ＜ 0.05).Conclusion ADAR1 mRNA and protein level could be significantly decreased by specific RNA interference,and cell proliferation in SMMC-7721 cells were also greatly inhibited.

Objective: To estimate the clinical efficacy of combination of chemotherapy with osteoblast promoting and anti-osteolys-is agents in bone metastatic carcinoma. Methods: Seventy-one patients with bone metastatic carcinoma were divided into 2groups and treated with protocol A or B, respectively. The protocol A was a combination of chemotherapy with osteoblastpromoting and anti-osteolysis agents, the protocol B was a combination of chemotherapy with antiosteolysis agent only. Theefficacies of the 2 protocols were compared and studied. Results:The effect of A was more remarkable than that of B in re-lieving bone pain and enhancing bone repair. No severe adverse effect of these agents was found in therapy. Conclusion: Theclinical efficacy of combination of chemotherapy with osteoblast promoting and anti-osteolysis agents in bone metastatic car-cinoma was definite, the osteoblast promoting agent as an effective adjtmctive agent can be used not only in osteoprosis butalso in bone metastatic carcinoma.

BACKGROUND:We attempt to explore a low-cost, simple and effective way to cryopreserve bone marrow mesenchymal stem cels at-80℃.
OBJECTIVE:To screen the optimal cryopreservation fluid for bone marrow mesenchymal stem cels and to verify the biological features of bone marrow mesenchymal stem cels after long-term cryopreservation.
METHODS: Bone marrow mesenchymal stem cels were cultured using adherent method and the biological features and purity of cels were detected using immunofluorescence method. Bone marrow mesenchymal stem cels were cryopreserved in the cryoprotectant medium containing low-sugar DMEM, fetal bovine serum and dimethyl sulfoxide at different proportions at-80℃ for a short term. Then, the optimal cryoprotectant was selected to storage the bone marrow mesenchymal stem cels. After 1, 3, 6 months of cryopreservation, the cels were resuscitated, cultured and passaged. Passage cels were identified immunofluorescence method to determine the biological features of bone marrow mesenchymal stem cels cryopreserved at-80℃.
RESULTS AND CONCLUSION:Cryoprotectant medium of 80% DMEM+10% fetal bovine serum+10% dimethyl sulfoxide was suitable for cryopreserving MSCs at -80℃, and resuscitated cels were able to proliferate in vitro, and passage normaly, indicating the cryopreserved bone marrow mesenchymal stem cels stil maintain the original biological activity.

Objective To investigate the effect of different concentrations of sevoflurane inhalation combined with pro?pofol anesthesia on rocuronium pharmacodynamics. Methods Sixty-seven patients, who underwent elective abdominal op?eration in Tianjin Medical University General Hospital from Nov. 2014 to Feb. 2015, were randomly allocated to three groups:propofol combined 0.5 minimum alveolar concentration (MAC) end-tidal concentration of sevoflurane (group Ⅰ, 24 cases), propofol combined 0.75 MAC end-tidal concentration of sevoflurane (group Ⅱ, 20 cases) and propofol combined 1 MAC end-tidal concentration of sevoflurane (groupⅢ, 23 cases). All those patients were given midazolam 0.05 mg/kg, sufen? tanil 0.3μg/kg, etomidate 0.3 mg/kg for anesthesia induction. Rocuronium was given through the T1 mode of Closed-loop muscle relaxant infusion system and infused by 2ED95(0.6 mg/kg). The following variables were recorded:average consump?tion dosage of rocuronium, recovery index, averaged consumption dosage of propofol and remifentanil. Results The aver?aged consumption dosage of rocuronium was decreased in the three groups in turn[(9.71 ± 2.38 vs 7.50 ± 0.98 vs 6.90 ± 1.14)μg·kg-1·min-1,F=18.562,P<0.05]. There was no significant difference in recovery index between the three groups [(8.92± 2.62 vs 8.95 ± 2.58 vs 10.30 ± 3.65)min,F=1.577, P>0.05]. The average consumption dosage of propofol and remifentanil were lower in groupⅢthan those of groupⅠand groupⅡ(P<0.05). Conclusion High concentration of sevoflurane can enhance neuromuscular blockage effect of rocuronium, and decrease the consumption dosage of propofol and remifentanil.

Massage prescriptions for treating infantile anorexia in Chinese Academic Journal Full-Text Database (CNKI, 1979-2012), Chinese Scientific and Technological Journal Full-Text Database (VIP, 1989-2012) and Wanfang Database (1990-2012) were collected. By using Chinese Medicine Inheritance Auxiliary Platform (Version 2.0) Software, 286 massage prescriptions for treatment of infantile anorexia were screened involved 76 acupoints, 20 commonly used acupoints, and 57 core acupoint combinations. Infantile Tuina specific points were used as main acupoints in massage therapy for infantile anorexia, and core acupoints covered Jizhu, Pi meridian, abdomen, Nei-Bagua, Zusanli (ST36), and Ban-men.
Acupuncture Points ; Acupuncture Therapy ; Anorexia ; therapy ; Data Mining ; Databases, Factual ; Humans ; Infant ; Massage ; Meridians ; Physical Therapy Modalities ; Software