Objective To explore the diagnosis and differential diagnosis of spinal muscular atrophy with respiratory distress type Ⅰ (SMARD1). Method The clinical data, results of gene detection, and follow-up information of a girl diagnosed with SMARD1 were retrospectively analyzed, and related literatures were reviewed. Results The girl was born by cesarean section due to oligohydramnios. After birth, she was transferred to neonatology department for poor feeding and response, and diagnosed with neonatal sepsis, infectious shock, disseminated inravascular coagulation and atypical purulent meningitis. She was discharged after one month of treatment. However, at 2 months old, she presented contracture of ankle joint, abnormal liver function, and myocardial damage. At 6 months old, she had obvious reduced muscular tension and development retardation. At 8 months old, the SMA gene was detected and it was normal. At 9 months old, The panel gene of peripheral neuropathy was detected and found 2 heterozygosis mutations in IGHMBP2 gene, exon8 c.1061-2A>G and exon12 c.1708C>T, which came from her father and mother respectively. Locus of exon12 c.1708C>T has been reported to be associated with the disease, and the other is a shear mutation. The diagnosis of SMARD1 was confirmed by the clinical and gene detection. The girl, 2-year-old now, suffered with recurrent respiratory tract infections, but had no respiratory distress or no respiratory failure yet. Conclusion The clinical phenotype of SMARD1 is complex and diverse. This case is the first domestic case comfirmed by gene detection.

Objective To explore the protective effect and mechanism of gardenoside on the damage of dopaminergic neurons induced by lipopolysaccharide (LPS). Methods Both neuron-enriched cultures and neuron-astrocyte cultures were pretreated with vehicle or gardenesides ( 10, 20 and 40 mg/L) for 30 min at 37℃. The culture media were subsequently renewed in order to remove gardenesides. LPS was then added into all culture media at a final concentration of 10 mg/L Twenty-four hours later, the culture media was collected to measure TNF-α, NO, IL-6, GDNF and MMP-9; the cells were collected to count the number of cells labeled with an antibody against tyrosine hydroxylase (TH) and to assess the expression of TH mRNA using reverse transcription-polymerase chain reaction. Results Gardeneside didn't promote the survival of dopaminergic neurons in neuron-enriched culture, but significantly increased the survival of dopaminergic neurons in neuron-astrocyte culture, compared with the vehicle group, the survival of dopaminergic neurons increased from 203.0%±17.4% to 256.7%±15.2% ( F = 17.22, P = 0.001 ) in 40 mg/L gardenaside group. The amount of TNF-α, NO and GDNF released from the neuron-astrocyte cultures after 24 h of addition of LPS was not changed significantly, while the expression of IL-6 and MMP-9 was increased significantly. In this study, the gardenoside concentration-dependently attenuated the LPSinduced increase of the expression of IL-6 and MMP-9, compared with the vehicle group, the expression of IL-6 and MMP-9 decreased to 67.2%±6.4% (F= 12.89,P =0.001 ), 77.3%±9.8% (F =8.27,P = 0.001 ) respectively in 40 mg/L gardenoside group. Conclusions Astrocytes play a neuroprotective role on dopaminergic neurons, which is decreased by LPS via inducing the secretion of pro-inflammatory factors. Gardeneside may protect dopaminergic neurons from LPS-induced injury in an astrocyte-dependent manner and it inhibits the production of proinflammatory factors instead of promoting the secretion of GDNF. From the point of view that a very low toxicity of gardenesides has been well documented, this report may reveal a new way of developing therapeutic interventions for inflammation-related diseases such as Parkinson's disease.

Objective To investigate the association between SLCO1B1/ApoE gene polymorphisms and lipid-lowering efficacy and safety of rosuvastatin.Methods DNA samples were extracted from blood using nano paramagnetic particle method.The SLCO1B1 521T＞C and ApoE gene polymorphisms were screened by PCR-pyrophosphate sequencing method.Totally 152 patients received rosuvastatin orally at a dose of 10 mg/d.The lipidlowering efficacy was evaluated through detecting serum low-density lipoprotein cholesterol (LDL-C) level before and 8 weeks after the treatment.The incidence of myopathic adverse effect was assessed by follow-up of the occurrence of myalgia.Results The gene distribution of SLCO1B1 521T＞C was 73.7％,23.7％ and 2.6％ respectively for TT,TC and CC in 152 patients,and the distribution of ApoE gene was 65.8％,13.2％ and 21.0％ respectively for ε3/ε3,ε3/ε2 and ε4/ε3.The genotype ε4/ε4,ε2/ε2 and ε4/ε2 were not detected.After orally receiving rosuvastatin 10 mg daily for 8 weeks,the decreased LDL-C levels showed significant differences (P＜0.05) among ApoE genotype ε3/ε2,ε3/ε3 and ε4/ε3 groups,and the frequencies of myalgia showed significant differences in the three genotype groups of SLCO1B1 521T＞C (P＜0.05).Conclusion The gene polymorphism of SLCO1B1/ApoE was correlated with efficacy and safety of rosuvastatin.The combined detection of SLCO1B1/ApoE genes can be utilized to predict efficacy and risk,and then realize individualized medication.

Objective To investigate the role of astrocyte in the lipopolysaccharide-induced damage of dopaminergic neurons. Methods After lipop01ysaccharide was applied to the third generation of rat astrocytes for 24 hours,supernatants of astrocytes culture were collected.The primary middle-brain dopaminergic neuron-enriched culture systems were obtained by neurobasal and ara-c,eoeulture system of both astrocytes and neurons was established by transwell inserts.The lipopolysaccharide was administered into neuron-enriched systems and coculture systems and the change of dopaminergic neurons was detected.At the same time,the supernatants of astrocytes were administered into the neuron-enriched systems,and the survival of dopaminergic neurons and the expression of tyrosine hydroxylase mRNA were observed. Results Lipopolysaccharide had a negative effect on the survival of dopaminergic neurons in a concentration-dependent manner.Both astrocytes and supernatants promoted the survival of dopaminergie neurons,and the former was better than the latter. In the preoccupation of existence of astrocytes,low-concentration lipopolysaccharide promoted the survival of dopaminergic neurons,while high-concentration,decreased.The change of the expression of tyrosine hydroxylase mRNA was similar to the survival of dopaminergic neurons.Conclusions Astrocytes play a protective role in the damage of dopaminergic neurons induced by lipopolysaccharide,and suitable activation of astrocytes would increase the protective effect while excessive activation of astroeytes would attenuate the effect.

Background Retinal neovascularization is pathological basis of a variety of fundus diseases,but its pathogenesis is unclear.Studies showed that the expression level of radixin in retina is remarkably increased in retinal neovascularization-related diseases.It is presumed that silencing or down-regulating the abnormal expression of radixin is helpful for curing retinal neovascularization-related diseases.Objective This study was to investigate the inhibitory effect of radixin short hairpin RNA (shRNA) plasmid on expression of radixin gene in retina of oxygen-induced retinopathy (OIR) mice.Methods Sixty-four 7-day-old C57BL/6J mice were randomly divided into normal control group, model control group, radixin shRNA plasmid group and shRNA plasmid group by random number table.There were 16 mice in every group.OIR models were established by exposing the mice in an environment of (75±2) ％ oxygen for 5 days and then returned to the normal air in the model control group,radixin shRNA plasmid group and shRNA plasmid group,while the mice of the normal control group were fed in the normal air environment.Radixin shRNA plasmid or control shRNA plasmid at the dose of 1 μg was intravitreally injected in 12-day-old mice of the radixin shRNA plasmid group or shRNA plasmid group, respectively.Five days later, FD-2000S angiography was performed on the mice of each group and then retinal flatmounts were prepared for the observation of retinal vessels.The mice from various groups were sacrificed and retinal sections were prepared.The vascular endothelial nucleus and new blood vessels extending inner limiting membrane (ILM) were examined by hematoxylin and eosin staining;the expression of radixin in the retinas was detected using immunochemistry;the relative expression levels of radixin mRNA and protein were quantitative assayed by real-time quantitative RCR and Western blot, respectively.The use and care of the animals adhered to the Association for Research in Vision and Ophthalmology Statement for the Use of Animals in Ophthalmic and Vision Research.Results The distribution of retinal vessels was normal in the normal control group.Non-perfusion zone at the posterior pole of retina, circuity of blood vessels,leakage of vessel wall and new blood vessels were found in the mice of the model control group.Non-perfusion zone and microaneurysms were also exhibited in the shRNA plasmid group.However,these findings were slight in the radixin shRNA plasmid group.The surface of ILM was in discontinuity in the model mice and shRNA-injected mice with more vascular endothelial cell nucleus and more tubes extending ILM than that in the radixin shRNA plasmid group.The immunochemistry results showed that the expressions of radixin in the normal control group and radixin shRNA plasmid group were weaker than those in the model control group and control shRNA plasmid group.The relative expression levels of radixin mRNA were 1.002±0.043,2.236-±0.093,0.556±0.015 and 2.272±0.096 in the normal control group, model control group,radixin shRNA plasmid group and control shRNA plasmid group,and those in the radixin shRNA plasmid group were significantly reduced in comparison with the normal control group, model control group and the shRNA plasmid group (all at P＜0.01).The relative expression levels were 1.000±0.082,1.193±0.021,0.263± 0.016 and 1.235±0.005 in the normal control group,model control group,radixin shRNA plasmid group and shRNA plasmid,with the lowest expression level in the radixin shRNA plasmid group (all at P＜0.01).Conclusions Radixin shRNA can downregulate the expression of radixin gene in the retinas of OIR mice and further inhibit pathological retinal neovascularization.

Objective To select omeprazole content changes smaller with dispensing method and to seek for rationality of off-label uses.Methods To measure content change of omeprazole sodium for injection mixed by different subscriptions at different time through HPLC, and compared effect of different dispensing methods on content of omeprazole sodium for injection.Results 10 mL 0.9%sodium chloride injection was chosed as dissolvent,the change of omeprazole sodium for injection content would be minor, and stability of drug solution was superior.Conclusion Dispensing methods of drug impact on its'security and validity, which is part of discuss category about medicine rational use as well.Off-label uses could not vest in unreasonable use, which should contingent on specific document,data and actual environment of medical treatment.

Objective:To study the expression and regulation of TLR2/4 in mycobacterium tuberculosis heat shock proteins 16. 3 (mycobacterium tuberculosis heat shock proteins 16. 3,MTB Hsp16. 3) effect on mouse bone marrow-derived macrophages in vitro. Methods:Bone marrow cells were isolated from tibia and femurs of BALB/c mice and incubated with GM-CSF,then detected the expression of CD11b and F4/80 with flow cytometry and observed morphology. The M0 macrophages were stimulated with MTB Hsp16. 3 for 0 h,12 h,24 h,36 h,48 h and 72 h. Real-time PCR detected the expression of TLR2/4 in intracellular at different time point. Silencing macrophages cell surface TLR2/4 molecules by siRNA technology which stimulated with MTB Hsp16. 3 for 0 h,12 h,24 h,36 h,48 h and 72 h. Real-time PCR detected the expression of TLR2/4,Ym-1,Fizz1,IL-10,TNF-α,iNOS and TGF-βin intracellular at different time point. Results:Morphology analysis showed that MTB Hsp16. 3 stimulated macrophages were round cells stretching out pseudopodia,whereas MTB Hsp16. 3 stimulated silencing TLR2/4 macrophages had elongated fibroblastoid. Real time PCR detected the expression of TLR2/4 were upregulated after MTB Hsp16. 3 stimulated M0 macrophages. MTB Hsp16. 3 stimulated silencing TLR2/4 macrophages the expression of IL-6, TNF-α, iNOS were upregulated, whereas IL-10, TGF-β, Ym-1 and Fizz1 were downregulated. Conclusion:MTB Hsp16. 3 may stimulated M0 macrophages to M2 macrophages and suppress M1 macrophages through binding with TLR2/4 receptor,which may be involved the progresss of MTB evaded macrophage phagocytosis.

Objective To analyze the features and diagnostic value of 3.0T multiparametric MRI for prostate cancer(PCa).Methods The clinical and MRI data of 48 patients with PCa and 52 patients with benign prostatic hyperplasia (BPH)were analyzed retrospectively. All patients underwent plain MRI,DWI,DCE-MRI and MRS.Results The PCa were hyperintensity on DWI and hypointensity on ADC,respectively.There was significant difference in the ADC values between the benign and malignant lesions.DWI using the high b-value was sensitivitive to diagnosing the PCa.The distribution of the S-I T was significant difference between the two groups.The SI-T curves of the PCa were type Ⅲ in 40 cases,type Ⅱ in 5 cases and type Ⅰ in 3 cases.The SI-T curves of the BPH were type Ⅰ in 27 cases,type Ⅱ in 23 cases and type Ⅲ in 2 cases.The peak value of choline (Cho)increased and citrate (Cit)decreased on MRS.The ratio of (Cho+Cre)value/Cit value of the PCa was increased.Conclusion DWI,DCE-MRI and MRS can present the specific findings of PCa.The combining application of the three technics could increase the accuracy in diagnosing PCa.

Objective To investigate the value of red blood cell distribution width (RDW) in the diagnosis of Iron Deficiency Anemia(IDA).Methods Most relevant studies,which were retrieved from the Medline,Embase,and the Cochrane Library were identified according to the inclusion and exclusion criteria and data were extracted.Statistical analyses were performed by employing Meta-DiSc 1.4 software.Meta-analysis of the reported accuracy of each study was performed and summary receiver operating characteristic (SROC) curve was drawn.Results Four studies met the inclusion criteria for the analysis.Heterogeneity test did not find significant heterogeneity among included studies.RDW＞14％ was taken as the diagnostic critical value,the sensitivity was 0.92[95％CI(0.88,0.94)],the specificity was 0.41[95％CI(0.35,0.47)] and the AUC of SROC was 0.87.Conclusion RDW is sensitive and has good value in the diagnosis of IDA.

Objective To study the protective effects of curcumin on oxidative stress injury of H9C2 cardiac myocytes induced by H2O2.Methods The oxidative stress injury model in H9C2 cardiac myocytes was established in vitro, and cells were divided into the control group, H2O2 group (200μmol/L), low- (10μmol/L), medium- (20μmol/L), high- (40μmol/L) dose curcumin, and each group set six holes. After H2O2 stimulation for 24 h, the morphology changes were observed by microscope, and the survival rates were measured using CCK8 method. The activity of LDH, CK, and AST, and the content of MDA in culture medium were detected, and the activities of SOD, CAT, and GSH-Px in cardiac myocytes were also determined.Results Compared with the H2O2 group, the activity of LDH (247.36 ± 28.04 U/L, 195.14 ± 21.37 U/L, 132.27 ± 16.33 U/Lvs. 247.58± 28.34 U/L), AST (67.27 ± 10.58 U/ml, 54.81 ± 8.60 U/ml, 42.14 ± 5.95 U/mlvs.84.34 ± 12.36 U/ml), CK (1.34 ± 0.66 U/ml, 0.95 ± 0.42 U/ml, 0.71 ± 0.39 U/ml vs.1.56 ± 0.74 U/ml) and the content of MDA (227.39 ± 32.05 nmol/ml, 185.11 ± 24.37 nmol/ml, 143.50 ± 16.37 nmol/mlvs. 274.19 ± 36.51 nmol/ml) in culture medium of curcumin were significantly decreased (P<0.05). The morphology of H9C2 cardiac myocytes in curcumin group was improved, the survival rate was significantly increased (P<0.05). The activity of SOD (17.67± 1.36 U/mg, 21.54 ± 1.72 U/mg, 28.37 ± 2.36 U/mgvs. 14.37 ± 1.22 U/mg), CAT (19.58 ± 3.87 U/mg, 25.34 ± 4.06 U/mg, 30.21 ± 4.83 U/mgvs. 14.77 ± 3.25 U/mg) and GSH-Px (1.99 ± 1.17 U/mg, 2.56 ± 1.29 U/mg, 3.04 ± 0.45 U/mgvs. 1.67 ± 0.87 U/mg) in cardiac myocytes were significantly increased (P<0.05). Conclusions Curcumin can effectively improve oxidative stress injury of H9C2 cardiac myocytes induced by H2O2, and curcumin has dose-dependent protective effects against the oxidative stress of H9C2 cardiac myocytes induced by H2O2.