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 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 miR-581 overexpression on the proliferation of human colorectal cancer cell line SW620. Methods:The expression group,colorectal cancer SW620 cells were transfected with recombinant lentivirus vector ( LV-miR-581) and miR-581 mimics(miR-581),the negative control group were transfected with negative control lentiviral vector (LV-GFP) and negative control mimics (vector). The mRNA expression of miR-581 was identified by qRT-PCR. Proliferation of the cells were detected by CCK8 assary and colony forming assary. Results:The expression of miR-581 at mRNA significantly increased in LV-miR-581 group compared with control groups were detected by qRT-PCR ( P<0. 05 ) . Up-regulation of miR-581 markedly enhanced human colorectal cancer SW620 cells proliferation than those in the cells transfected with control vector ( P<0. 05 ) . Conclusion: Forced expression of miR-581 accelerates the proliferation of colorectal cancer SW620 cells.

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 explore the correlation between the cancer-related fatigue and uncertainty in illness among breast cancer inpatients. Methods Totally 90 patients with breast cancer were involved in the study by cancer fatigue scale (CRS) and Mishel's uncertainty in illness scale-adult (MUIS-A). The correlations were analyzed. Results Approximately 100.00%patients experienced fatigue during hospitalization. The total score of uncertainty in illness was 107.51 ± 21.26. There was a positive correlation between each fatigue dimension and uncertainty in illness (P<0.001). Conclusions Cancer-related fatigue is widespread among breast cancer inpatients and sense of uncertainty in illness of patients is at a moderate level. Nursing staff can help patients to reduce disease uncertainty and improve the life quality of patients by strengthening health education , providing comprehensive information support, fully mobilizing patients' social support system.

Objective:To investigate the effects of Gab2 overexpression on the proliferation and migration of human colorectal cancer cell line SW480.Methods: The experimental group (LV-Gab2-GFP group),colorectal cancer SW480 cells were transfected with recombinant lentivirus vector (LV-Gab2-GFP),the negative control group was transfected with negative control lentiviral vector ( LV-GFP) ,and the blank control group without any treatment.The mRNA and protein expression of Gab 2 in cells were identified by RT-PCR and Western blot respectively.Proliferation of the cells was detected by CCK-8 colorimeter and colony forming assay.Wound-healing assay was used to determine the cells migration .Results: RT-PCR and Western blot demonstrated that Gab 2 mRNA and protein expression significantly increased in LV-Gab2-GFP group compared with control groups;overexpression of Gab2 markedly enhanced human colorectal cancer SW 480 cells proliferation and migration compared with control groups .Conclusion:Overexpression of Gab2 accelerates human colorectal cancer SW 480 cells proliferation and migration.

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.

Objective: To observe the clinical therapeutic effects of supplementing Qi and activating blood circulation method(益气活血法) for critically ill patients.Methods: Ninety critically ill patients with(Qi-deficiency)(气虚) and blood stasis(血瘀) syndromes who diagnosed according to standard in a book named clinical diagnosis and treatment nomenclature of traditional Chinese medicine were randomly divided into the the treatment group(n=60) and the control group(n=30).The general therapy of the two groups was the same.Additionlly,the treatment group was administered Shenmai injection(丹参注射液) and Danshen power(丹参粉针剂),15 days were as one therapeutic course.Results: In the treatment group,the total effective rate of clinical therapeutic effects was 85.00 %;before and after treatment,traditional Chinese medical scores was 38.63?9.08 vs.24.27?7.43,acute physiology and chronic health evaluationⅡ(APACHEⅡ) 18.11?4.54 vs.12.47?1.64,platelet(PLT) count(198.00?54.16)?10~9/L vs.(174.00?40.82)?10~9/L,(haematocrit)(HCT) 0.340?0.049 vs.0.440?0.057,mean cell hemoglobin(MCH)(34.00?3.10)pg(vs.(31.00?1.83) pg).The differences of above parameters were significant between the two groups,and they were superior in the treatment group to those in the control group(all P

Objective:To investigate the effects of RNA interference(RNAi)-mediated silencing of Peroxiredoxin 1(PRDX1)gene on the invasion and migration of human colorectal cancer SW480 cells.Methods: Lentiviruses negative control vector and PRDX1 RNAi were transfected respectively into colorectal cancer SW480 cells.The transfected cells were divided into PRDX1 silencing group(si-PRDX1)and negative control group(Vector).The expressions of PRDX1 mRNA and protein in SW480 cells were exa mined by quantitative real-time PCR(qRT-PCR)and immunoblotting(Western blot),respectively.The cell migration and invasion capabilities were evaluated with transwell chamber assay and transwell chamber,respectively.The protein expressions of TIMP-2,MMP-2 and MMP-9 were detected by Western blot.Results: Compared with control group,the expressions of PRDX1 mRNA and protein were significantly decreased in PRDX1 silencing group(P<0.01),PRDX1 gene silencing cell line was successfully constructed.The levels of invasion and migration capacities of SW480 cells transfected with si-PRDX1 were lower than those in the cells transfected with control-siRNA(vector)(P<0.01).The expression of TIMP-2 was significantly increased,while the expressions of MMP-2 and MMP-9 were significantly decreased(P<0.05).Conclusion: Silencing of PRDX1 inhibits the invasion,migration and metastasis of human colorectal cancer SW480 cells by regulating the expressions of TIMP-2,MMP-2 and MMP-9.

Meridians in human body were classified as white meridian and black meridian according to Tibetan medicine.Season and environment,improper diet,toxic heat and trauma were recognized as main reasons damaging the white meridian in Tibetan Medicine,leading to the emerge of white meridian disease induced by Long (one of the three factors) and blood disorder.White meridian disease in Tibetan medicine involved a series diseases,such as many clinical diseases,due to the damage of white meridian system caused by pathogenic factors.Stroke also belonged to white meridian disease.Drugs and treatments were selected based on the nature of disease such as cold and heat,onset,thelocation of disease and the three factors (Chi Ba,Long and Pei Gen).It was the fundamental principle of the treatment rules of white meridian disease in Tibetan medicine,namely,prescribing medication with the rule of diagnosis and treatment,comprehensive analysis of the causes of diseases and mastering the change law of diseases and syndromes in clinic.