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 effect of hyperthermic intraperitoneal perfusion and cisplatinon apoptosis in human ovarian cancer cells.Methods Two human ovarian cancer cells (OVCAR-3,A2780) were divided into control group,cisplatin group,hyperthermia group and thermo-chemotherapy group;microscopy was used to observe the morphological changes of the four groups;AO/GV stain and flow cytometry(FCM) was used to analyze cell apoptosis;Apoptosis related genes caspase7,caspase8 and Bax in ovarian cancer cells were detected by fluorescence quantitative PCR.Results Inverted microscopy observeed that the ovarian cancer cells retracted and suspended partially in the cisplatin group and hyperthermia group,especially in the thermo-chemotherapy group.After AO/GV staining,the apoptotic cells were increased in the cisplatin group and hyperthermia group compared with the control group,and the thermo-chemotherapy group was more than cisplatin group and hyperthermia group.FCM results indicated that the proportion of cells apoptosis were higher in the cisplatin group and hyperthermiagroup,the thermo-chemotherapy group is the higher than the all other groups(P＜0.05).q-PCR results showed that in the thermo-treatment group the expression of pro-apoptotic genes,including caspase3,caspase6,caspase7,caspase8,caspase9,Bax,Bak and Bid,was significantly higher than other groups,apoptosis inhibitory gennes,such as Bcl-2,Bcl-xL,Mcl-1,c-FLIP,was significantly decreased than the others.Conclusions Cisplatin plus hyperthermia can promote the apoptosis in ovarian cancer cells.

Aim To investigate the vasodilatory effect of Ferulic acid on in vitro rat coronary artery and its possible mechanism. Methods By using the mi-crovessel tension recorder system, the vasodilatory effect of FA on resting and contractin-vitro rat coronary artery was determined;the influence of endothelial in-tegrity to FA-induced vasorelaxation was observed; the relationship of FA on [ Ca2+] ex-influx-induced and [ Ca2+] in-efflux-induced contractions was discussed;the mechanism of vasodilatory effect of FA was ex-plored by applying the inhibitors of KCa(TEA),KATP channel ( Gli ) , KIR channel ( BaCl2 ) , KV ( 4-AP ) , NOS( L-NAME) and COX( Indo) . Results FA had no effect on the resting tension of in vitro rat coronary artery. FA dilated the in-vitro rat coronary artery pre-treated with KCl ( 60 mmol · L-1 ) , U46619 ( 1 μmol · L-1 ) and PE ( 10μmol · L-1 ) in a concentration-dependent fashion ( P < 0. 05 ) . FA inhibited the [ Ca2+] ex-influx-induced and [ Ca2+] in-efflux-in-duced contractions significantly ( P <0. 05 ) . 4-AP ( 1 mmol· L-1 ) restrained the diastolic function of FA, while TEA, Gli, BaCl2、L-NAME, Indo had no obvious effect ( P >0. 05 ) . Conclusion The diastolic func-tion could be related to the activation of KV channel on vascular smooth muscle cells, the free Ca2+ from Sar-coplasmic reticulum cells and blockade extracellular Calcium channel do not depend on KCa, KATP, KIR channel, nor the endothelial function.

Objective To establish a rat model of post-traumatic stress disorder(PTSD)through single-prolonged stress(SPS)and to observe the effect of social isolation on the behavior of the SPS model rats. Methods A total of 36 rats were randomly divided into the normal group, SPS model group and SPS combined with social isolation group. The rats in both SPS model group and SPS combined with social isolation group were modeled by single-prolonged stress,and the rats in the SPS combined with social isolation group were raised separately after modelling. The weight gaining,the total movement distance in open field test,the frequency of grid crossing,the single maximum movement distance,and the freezing frequency and time durations in the freezing behavior test were measured after 7 days of modeling. Results Compared with the normal group,the weight gaining and the single maximum movement distance of the rats in the SPS model group were significantly decreased(P < 0.01),as well as the total movement distance and the frequency of grid crossing(P < 0.05),while the freezing frequency and time in the freezing behavior test were significantly increased(P < 0.01). Compared with the normal group,the weight gaining and crossing times of the rats in the SPS combined with social isolation group was decreased(P <0.05),and the freezing frequency and time durations in the freezing behavior test were increased(P < 0.05). In addition, compared with the SPS model group,the total movement distance in the open field test,the frequency of grid crossing and the single maximum movement distance of the rats in the SPS combined with social isolation group were increased(P < 0.05). Conclusions The rat model of post-traumatic stress disorder is successfully established by single-prolonged stress, and 7 days of social isolation may alleviate the anxiety state of SPS model rats.