Spondyloepiphyseal dysplasia(SED) includes a group of disorders that cause deformation of vertebrae and epiphyses following gene mutations.Its main clinical manifestations are short stature(with a disproportionately short-trunk),chest malformation and early-onset joint degeneration.These disorders are broadly categorized into two subtypes: congenita(SEDC) and tarda(SEDT).In the 2006 revision of the International Nosology and Classification of Genetic Skeletal Disorders,372 different conditions were listed,of which 215 were associated with one or more of 140 different genes.SEDC has consistently been shown to correlate with defects in the gene COL2A1 on the long arm of chromosome 12,whose product is needed to form normal type-Ⅱ collagen.The gene responsible for SEDT is SEDL,mapped to the short arm of the X chromosome(Xp22).This paper briefly reviews the progress in the studies of molecular genetics of SEDC,SEDT and other rare forms of SED,which might provide some practical help for genetic and prenatal diagnoses of SED.

【Objective】To investigate the influence of serum containing Hechan Tablets(HT)on the proliferation and apoptosis of human lung adenocarcinoma cell(LAC)line.【Methods】Serum containing HT was prepared.Human LAC line was cultured by the routine method firstly,and then was planted respectively in the culture medium including serum containing HT at the concentration of 30%(group A),in the culture medium including blank serum at the same concentration(group B)and in RPMI-1640 culture medium(group C).The growth of LAC was monitored under inverted phase contrast microscope,histological features of apoptotic LAC nucleus examined under fluorescence microscope and the apoptosis of LAC observed by flow cytometry with the methods of DNA content analysis and terminal-deoxynucleotidyl transferase mediated nick end labeling(TUNEL).【Results】After treatment with serum containing HT,the apoptotic changes of LAC were as follows: apoptotic rate was 5.6% in group A,lower than 0.9% in group B and 0.1% in group C;DNA content analysis showed that the number of LAC which was in phase S and phase G2-M was less in group A than that in groups B and C 72 hours after the culturing,so did the cell proliferation index;the results of TUNEL examination showed that the incidence of cell apoptosis was 12.3% in group A,5.7% in group B and 1.2% in group C 72 hours after the culturing.【Conclusion】Serum containing HT has an inhibitory effect on the proliferation of LAC,and its mechanism may be related to inhibiting DNA synthesis and division of LAC,restraining LAC at the phase G0 and G1 and promoting LAC apoptosis.

The paper gives an account of the basic methods for assessing the intrinsic quality of patient nursing by nursing procedures. These include: ①monitoring the accuracy of nursing assessment via evaluating the integrity of patients health; ②evaluating the soundness of nursing diagnosis via analyzing and judging the individuality of patients; ③evaluating the rationality of nursing goals and the appropriateness and operability of nursing measures through patients changes in behavior, function, cognition and emotion; and ④evaluating the timeliness and cyclicity of nursing result assessment through the improvement of patients overall conditions. The paper also analyses the problems involved in employing nursing procedures and countermeasures, pointing out that timely transformation of the nursing management model can markedly enhance the intrinsic quality of nursing.

Objective To investigate the effects of leptin on proliferation of the breast carcinoma MCF-7 cells in terms of protein and nRNA of Rab-25 and C-myc.Methods MCF-7 cells were treated with leptin and normal saline (NS) as control.The 490 nm OD values of cells were read by MTT and the protein and mRNA expressions of Rab-25 and C-myc were measured by western blot and RT-PCR methods in two groups.Results Compared with control group,leptin can promote the proliferation of MCF-7 cells in a dose and time dependent manner within certain limit and up-regulate the protein expressions of Rab-25 and C-myc in the breast carcinoma MCF-7 cells (P ＜ 0.05).However,leptin also can up-regulate the mRNA expressions of Rab-25 but without significance (P =0.05).On the contrary,leptin can also up-regulate the mRNA expressions of C-myc (P ＜ 0.05).Conclusion Leptin promotes breast cancer cells proliferation,which may be related to up-regulate the protein and mRNA expressions of Rab-25 and C-myc.It could provide theoretical foundation and new target of gene therapy in the clinical treatment of breast cancer.

Objective To investigate the role of Xuebijing injection in inhibiting perioperative inflammatory responses and protecting the function of multiple organs.Methods A single-blind,randomized,parallel controlled trial was conducted.60 patients in the First Affiliated Hospital of Zhejiang University School of Medicine,aged 18 to 80 years,ASA grade Ⅰ-Ⅲ,undergoing elective abdominal surgery,were enrolled.The patients were randomly divided into the control group (n =30) and the treatment group (n =30).In the control group,after induction of anesthesia,a continuous infusion of 0.9％ normal saline (NS) 200 mL was given in a speed of 2 mL/min,while a continuous infusion of Xuebijing 2 mL/kg in 100 mL of 0.9％ NS was given at 2 mL/min in the treatment group after induction of anesthesia.The blood sample was drawn,and body temperature,routine blood test,C-reactive protein (CRP),liver and kidney function,fasting glucose (Glu),and serum interleukin-6 (IL-6),high mobility group protein B 1 (HMGB 1) levels were determined in all the patients before anesthesia (T1),at the end of operation (T2),12 hours after operation (T3),or at 5:00 am on the third day after operation (T4).At the same time the adverse reactions were recorded for evaluation of the safety of Xuebijing.Results After using Xuebijing injection,T3 body temperature and the T3-T1 temperature difference in treatment group were significantly lower than those of the control group(℃℃:36.70 ± 0.37 vs.37.38 ± 0.47,t＝6.199,P＝0.000; 0.07 ± 0.50 vs.0.85 ±0.58,t＝5.598,P＝0.000).Postoperative white blood cell count,neutrophil percentage,and CRP were significantly higher than those before the operation,but the differences between two groups were not statistically significant.Compared with the control group,alanine aminotransferase (ALT),aspartate transaminase (AST),total bilirubin (TBil) levels at T3 of treatment group were significantly reduced [ALT (U/L):17.56 ± 9.80 vs.88.60 ± 179.76,AST(U/L):27.53 ± 13.12 vs.84.16 ± 151.14,TBil(μ,mol/L):15.46 ± 9.79 vs.25.63 ± 25.33,all P＜0.05].Difference of conjugated bilirubin (CB),blood urea nitrogen (BUN),creatinine (Cr),Glu were not statistically significant between two groups.IL-6 showed an increasing trend after the operation in both groups,and IL-6 level (ng/L) at T2 of the treatment group was significantly lower than that of the control group (41.42 ± 59.74 vs.124.84 ± 119.66,t=3.405,P=0.001).The HMGB 1 level of two groups at T4 were lower than those at T1,but it decreased significantly only in treatment group (μg/L:22.03 ± 15.73 vs.45.09 ± 33.79,P＜0.05),and there was no significant difference between two groups.No serious adverse events occurred during the clinical trial.Conclusions Application of Xuebijing injection during anesthesia can significantly diminish postoperative inflammatory injury,which plays an important role in the protection of liver function,helps restore organ function and improve prognosis,and it is safe and effective.

The aim of this study is to explore the tissue distribution of PEGylated puerarin in acute myocardial ischemia model rats. Healthy male SD rats were randomly divided into two groups (30 each). Both were given PEGylated puerarin at a dose of 488 mg x kg(-1). After 5 min of medication, one group was normal rats, another group with acute myocardial ischemia was established by peritoneal injection of 50 mg x kg(-1) isoprenaline. After administration, the animals were executed at 30, 60, 90, 120, 150 and 180 min, then heart, liver, spleen, lung, kidney were extracted. The content of puerarin in organ tissue was determined by HPLC. The results showed that the AUC of tissue distribution of PEGylated puerarin in normal rats was liver > kidney > heart ≈ spleen > lung > brain. While the AUC of tissue distribution of PEGylated puerarin in acute myocardial ischemia model rats was liver ≈ heart > kidney > lung ≈ spleen > brain. AUC(heart) of PEGylated puerarin in acute myocardial ischemia model rats was 1.7 times than that of the normal rats, and there was significant difference (P < 0.05). Thus, PEGylated puerarin had a good heart-targeting property in early myocardial infarction area, drugs could accumulate in the ischemic myocardium. It provided important information for further study and clinic use of PEGylated puerarin.

Objective:To investigate the effects of bezafibrate (BF) on the activation,proliferation and differentiation of CD4+T cells from primary biliary cirrhosis ( PBC) patients and to elucidate the mechanisms for the immunosuppressive effects of BF and to further provide experience basis for BF target therapy PBC.Methods:PBMCs were isolated from PBC patients then CD 4+T cells were selected by MACS, and stimulated with anti-CD3, anti-CD28, in the presence of different concentration of BF.The cytokines were measured by ELISA,and the activation,proliferation and differentiation of CD4+T cells were analyzed by flow cytometry.Results:(1) BF could inhibit the activation of CD 4+T cells in PBC patients.(2) BF could inhibit the proliferation of CD 4+T cells in PBC patients in a dose-dependent manner (P<0.05).(3)BF could down-regulation IFN-γand IL-17 production of CD4+T cells in a dose-dependent manner ( P<0.05 ).Conclusion: BF could inhibit immune responses of PBC patients by suppressing CD 4+T cells activation;proliferation and cytokine production.

Objective:To explore the metabolic regulations of different Traditional Chinese Medicine (TCM) syndromes in the diabetic patients with high risk for foot ulceration.Methods:Based on gas chromatography-mass spectrometer and multi-dimensional data processing methods, the metabolomics analysis was used to compare the serum metabolites profile of healthy people (32 cases) and the high-risk foot patients in Cold and Blood Stagnation syndrome (44 cases), Heat-toxin hurting Yin syndrome (54 cases), and Qi-Blood deficiency syndrome (33 cases), who were hospitalized at Shanghai TCM-Integrated Hospital from Apirl to December, 2018.Results:This study suggested that compared with healthy people, the diabetic patients with high risk for foot ulceration showed significantly lower serum level of urea [(2.41 ± 1.57)×10 5vs. (3.32 ± 2.10)×10 5], L-leucine [(4.94 ± 3.15)×10 5vs. (6.39 ± 3.57)×10 5], aspartic acid [(3.94 ± 4.48)×10 5vs. (9.62 ± 6.93)×10 5], 9H-purine [(1.74 ± 1.95)×10 5vs. (3.34 ± 2.23)×10 5] ( P<0.05 or P<0.01), while higher level of d-Glucose [(3.72 ± 1.71)×10 5vs. (2.21 ± 1.32)×10 5] and d-glucopyranose [(3.32 ± 2.10)×10 5vs. (1.35 ± 1.43)×10 5] ( P<0.01). Energy metabolism, amino acid metabolism and sugar metabolism were mainly involved. the content of L-tyrosine in the group of patients with Cold and Blood Stagnation syndromewas significantly higher than that in healthy people. The urea, purine, leucine, aspartic acidcontent in patients of Heat-toxin hurting Yin syndrome were significantly lower than that in healthy people. The purine content in patients of Qi and Blood Deficiency Syndrome was significantly lower than that in healthy people. Compared with the syndrome of Heat-toxin hurting Yin syndrome, patients in Cold and Blood Stagnation syndrome showed a significantly higher content of beta-1-galactopyranoside and butanoic acid. Compared to the Qi-Blood deficiency syndrome, serum urea level in patients of Heat-toxin hurting Yin syndrome was significantly higher than those in the patients of other two TCM syndromes. Conclusions:The serum metabolomics profiling differentiate three TCM-syndrome in high-risk DF patients, which can provide objective basis for clinical TCM syndrome differentiation and treatment of high-risk diabetic foot patients.

Objective To study the DCE-MRI findings of laryngeal and hypopharyngeal carcinoma.Methods 26 new patients di-agnosed laryngeal and hypopharyngeal cancer by pathology were collected and took DCE-MRI before therapy.The TIC type,ADC value,peak time (Tpeak),peak signal enhancement percentage (SERmax),positive enhancement integral(PEI),maximum slope of increase(MSI)and maximum slope of decrease(MSD)were obtained respectively.These semi-quantitative parameters of primary cancer,normal pharyngeal tissue and the same layer neck muscles were compared and P <0.05 was considered statistical signifi-cance.Results The TIC types for primary tumor including type Ⅰ(5),type Ⅱ(6),type Ⅲ(1 5),a significant difference of Tpeak、MSI、MSD were observed(P < 0.05 )no difference in ADC values (P > 0.05 )was found.Different b values (b = 300 s/mm2 , 500 s/mm2 )for ADC values were significantly different.There was statistical significance in semi-parameters among the primary cancer,normal pharyngeal wall tissue and the same layer neck muscles.Setting MSI value 58.32 threshold to distinguish abnormal and normal tissues,sensitivity and specificity both were 84.6%.Conclusion DCE-MRI can reflect morphology and signal differences among neck muscles,normal and abnormal laryngeal and hypopharyngeal tissues,providing help for diagnosis of primary carcino-ma.

Objective To analyze and summarize the CT features of medullary thyroid carcinoma (MTC).Methods 30 patients with MTC proved by surgery and pathology were scanned by CT.And the CT manifestations were analyzed retrospectively.Results In a total of 30 patients,a single lesion in 25 (83.3%)patients and multiple ones in 5 (16.7%)were found with irregular shape in 27 (90.0%),unclear border in 26 (86.7%),heterogenous enhancement with irregular internal hypodensity in 27 (90.0%),cal-cifications in 4 (13.3%)and invasion of trachea in 4 (13.3%).As for the 29 patients underwent the neck surgery ,26 (89.7%) were pathologically confirmed with lymph nodes metastasis.CT showed the metastatic lymph nodes with well-defined border in 1 2 (46.2%)and ill-defined one in 14 (53.8%),calcifications in 5 (19.2%)and heterogenous enhancement with irregular internal hy-podensity in all (100.0%).Conclusion CT features of MTC and metastatic lymph nodes appeared as heterogenous enhancement with irregular internal low attenuation area,which can improve the accuracy of preoperative diagnosis.