2.Two cases of Cornelia de Lange syndrome type 2 for SMC1A gene mutations
Changjian YANG ; Qingyang DOU ; Xing YUAN ; Xiaomei SHU
Chinese Journal of Applied Clinical Pediatrics 2021;36(10):783-785
The clinical features and gene mutation characteristics of 2 children who suffered from Cornelia de Lange syndrome(CdLs)and were admitted to Affiliated Hospital of Zunyi Medical University in March 2019 were retrospectively analyzed.The 2 cases developed in infancy and presented with intractable epilepsy were accompanied with developmental retardation and special appearance.It was obvious that the 2 children had SMC1A gene mutations on X chromosome.Case 1 was frameshift mutations in the SMC1A gene at c. 2561dupA(p.K854fs), and case 2 was mutations in the SMC1A gene at c. 3441+ 1G>A(exon24)splicing mutation.These were heterozygous de novo mutations, and weren′t detected in their parents, which was not reported in literatures.In this study, 2 cases of CdLs were caused by SMC1A gene mutation, which enriched the human gene mutation database.CdLs should be considered in children with early-onset epilepsy, especially appearance and developmental retardation.Genetic testing is the most important diagnostic method.
3.The mechanism through which low-intensity pulsed ultrasound promotes the differentiation of C2C12 myoblasts
Yalian ZHANG ; Bin SHU ; Zhong YANG ; Qian LI ; Xing CAI
Chinese Journal of Physical Medicine and Rehabilitation 2021;43(3):193-199
Objective:To observe the effect of low-intensity pulsed ultrasound (LIPUS) at different intensities on the expression of adiponectin and its receptors in C2C12 myoblasts, and to explore the potential mechanism by which LIPUS promotes the differentiation of C2C12 myoblasts.Methods:C2C12 myoblasts cultured in vitro were randomly divided into a control group and U 0.1, U 0.3 and U 0.5 groups. The control group received sham LIPUS exposure, while the U 0.1, U 0.3 and U 0.5 groups were exposed to LIPUS at intensities of 0.1W/cm 2, 0.3W/cm 2 or 0.5W/cm 2 respectively, and 1MHz for 5 min daily for 5 days. Cell viability was measured using CCK-8 assays. Fluorescence quantitative reverse transcription-polymerase chain reactions were used to detect the mRNA expression of adiponectin, adiponectin receptor 1 (adipoR1) and T-cadherin in the cells. Western blotting was employed to assess the protein expression of adiponectin, adipoR1, T-cadherin, adenosine monophosphate activated protein kinase (AMPK), activated phosphorylated adenylate-activated protein kinase (P-AMPK), embryonic myosin heavy chain (eMHC) and myogenin (MYOG). The differentiation ability of the 4 groups was measured using cell immunofluorescence chemistry. Results:After the intervention the cell viability in the U 0.1, U 0.3 and U 0.5 groups was significantly higher than in the control group. Compared with the control group, the average mRNA expression of adiponectin and the receptors of adipoR1 and T-cadherin were up-regulated significantly in the U 0.3 and U 0.5 groups. The average adiponectin, adipoR1 and T-cadherin protein expressions, and the AMPK phosphorylation level in the U 0.3 and U 0.5 groups had increased significantly compared with the control group, but all were significantly lower than in the U 0.3 group. The average protein expression of eMHC and MYOG, and the C2C12 myoblast fusion indices of the U 0.3 and U 0.5 groups were significantly higher the control group′s averages. Conclusions:LIPUS can promote the differentiation of C2C12 myoblasts. It is most effective at 0.3W/cm 2, administered for 5min/d at 1MHz with a 20% duty cycle. Its regulatory mechanism may be related to up-regulation of the expression of adiponectin, the adipoR1 and T-cadherin receptors, and the activation of AMPK phosphorylation in C2C12 myoblasts.
4.Effect of sesamin on pulmonary vascular remodeling in rats with monocrotaline-induced pulmonary hypertension.
Xian-wei LI ; Yun-xing GAO ; Shu LI ; Jie-ren YANG
China Journal of Chinese Materia Medica 2015;40(7):1355-1361
OBJECTIVETo observe the effect of sesamin (Ses) on pulmonary vascular remodeling in rats with monocrotaline ( MCT)-induced pulmonary hypertension (PH).
METHODTotally 48 male Sprague-Dawley (SD) rats were fed adaptively for one week and then divided into the normal control group, the MCT group, the MCT +Ses (50 mg x kg(-1)) group and the MCT + Ses (100 mg x kg(-1)) group, with 12 rats in each group. The PH rat model was induced through the subcutaneous injection with MCT(60 mg x kg(-1)). After the administration for four weeks, efforts were made to measure the right ventricular systolic pressure( RVSP) and mean pulmonary artery pressure (mPAP) through right jugular vein catheterization, and isolate right ventricle( RV) and left ventricle( LV) +septum (S) and measure their length to calculate RV/ ( LV + S) and ratio of RV to tibial length. Pathologic changes in arterioles were observed by HE staining. Masson's trichrome stain was used to demonstrate changes in collagen deposition of arterioles. The alpha-smooth muscle actin (alpha-SMA) expression in pulmonary arteries was measured by immunohistochemisty. The total antioxidative capacity (T-AOC) and malondialdehyde (MDA) content in pulmonary arteries were determined by the colorimetric method. The protein expressions of collagen I, NOX2 and NOX4 were analyzed by Real-time PCR and Western blot.
RESULTAfter the administration for 4 weeks, Ses could attenuate RVSP and mPAP induced by MCT, RV/ (LV + S) and ratio of RV to Tibial length, alpha-SMA and collagen I expressions and remodeling of pulmonary vessels and right ventricle. Meanwhile, Ses could obviously inhibit the expressions of NOX2, NOX4 and MDA content and increase T-AOC.
CONCLUSIONSesamin could ameliorate pulmonary vascular remodeling induced by monocrotaline in PH rats. Its mechanism may be related to expressions of NOX2 and NOX4 expression and reduction in oxidative stress injury.
Animals ; Dioxoles ; administration & dosage ; Disease Models, Animal ; Drugs, Chinese Herbal ; administration & dosage ; Humans ; Hypertension, Pulmonary ; drug therapy ; enzymology ; genetics ; physiopathology ; Lignans ; administration & dosage ; Lung ; blood supply ; enzymology ; metabolism ; Male ; Membrane Glycoproteins ; genetics ; metabolism ; Monocrotaline ; adverse effects ; NADPH Oxidase 2 ; NADPH Oxidase 4 ; NADPH Oxidases ; genetics ; metabolism ; Pulmonary Artery ; drug effects ; metabolism ; physiopathology ; Rats ; Rats, Sprague-Dawley ; Vascular Remodeling ; drug effects
5.In vitro effect of total flavones of Fructus Chorspondiatis on expression of collagen type I and type III mRNA and protein of cultured rat cardiac fibroblasts.
Junping BAO ; Ming JIN ; Yumin YANG ; Xiaohui GAO ; Liang SHU ; Huihui XING ; Lei JIA
Acta Pharmaceutica Sinica 2014;49(1):136-41
This study aims to investigate the effect of total flavones of Fructus Chorspondiatis (TFFC) on the mRNA and protein expression of collagen type I and III of rat cardiac fibroblasts (CFs) induced by angiotensin II (Ang II), and explore its anti-myocardial fibrosis molecular mechanism. Neonatal rat CFs were prepared from Sprague-Dawley rats (1-3 d after birth). The expression of collagen type I and III mRNA and protein were measured by RT-PCR and Western blotting, respectively. The study showed that stimulation of neonatal rat CFs with 100 nmol.L-1 of Ang II for 72 h resulted in a significant increase of the expression of collagen type I and III mRNA and protein. The changes on the expression level were blocked by TFFC. The results demonstrated that TFFC can inhibit myocardial fibrosis induced by Ang II in rats, which is probably associated with the collagen type I and III mRNA and protein levels up-regulated by Ang II, and TFFC was shown to decrease the expression levels of collagen type I and III mRNA and protein.
6.Ancient clinical application of massage therapy on navel.
Xing-Yue YANG ; Yu-Xiao MA ; Si-Sheng TIAN ; Shu-Zhong GAO
Chinese Acupuncture & Moxibustion 2014;34(7):719-720
To further explore the clinical effect of massage therapy on navel,the related ancient literatures were arranged and analyzed,and several methods in ancient clinical were introduced, including stroking navel, rubbing navel, pushing navel, tapping navel and puffing navel. In addition, the theoretical basis of massage therapy on navel were discussed. The results revealed ancient literatures offered abundant theoretical basis to modern clinical practice, and there were evidences of treating gastroenteric and gynecological diseases with this therapy. Comprehensively, through the study of ancient literatures and modern research, therapy of massage on navel is believed to be promising and will gain popularity in the future.
China
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History, Ancient
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Humans
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Massage
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history
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Medicine in Literature
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Umbilicus
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physiopathology
7.Application of18F-FDG Micro-PET Myocardial Metabolism Imaging for Evaluating Dilated Cardiomyopathy Model in Experimental Rats
Lijuan SHEN ; Shu LU ; Yonghua ZHOU ; Qingmin XING ; Lan LI ; Min YANG ; Chungang ZHOU
Chinese Circulation Journal 2016;31(8):802-806
Objective: To explore the application of18F-lfuorodeoxyglucose (FDG) micro- positron emission tomography (PET) myocardial metabolism imaging for evaluating dilated cardiomyopathy model (DCM) in experimental rats. Methods: A total of 12 male SD rats were randomly divided into 2 groups: DCM group, the rats received intraperitoneal injection of adriamycin at 1.0 mg/kg twice per week and Control group, the rats received intraperitoneal injection of normal saline, all animals were treated for 6 weeks followed by 2 weeks observation.n=6 in each group. Echocardiography was performed at pre- and post-modeling,18F-FDG micro-PET myocardial metabolism imaging was conducted after modeling and plasma level of BNP was examined as well. Finally, the rats were scariifed to observe the pathological changes of myocardial tissue. Results: 1 rat died in DCM group and the rest were with successful modeling conifrmed by echocardiography and pathology. Compared with Control group, DCM group showed decreased standard uptake value of18F-FDG (1.23 ± 0.55) vs (6.65 ± 0.41),P<0.01; the standard uptake value of18F-FDG was negatively related to left ventricular end diastolic diameter (LVEDD) (R=-0.709,P=0.015), LVESD (R=-0.924, P=0.000) and plasma level of BNP (R=-0.948,P=0.000), while positively related to LVEF (R=0.968,P=0.000) and fractional shortening (R=0.863,P=0.001). Conclusion:18F-FDG micro-PET myocardial metabolism imaging combining echocardiography, biochemical and pathological examinations may evaluate DCM modeling in rats, which provide a non-invasive and intravital tool for small animal experiment.
8.Establishment of a simple and convenient animal model of cardiac arrest for studying cerebral resuscitaion
Yu-Jie MA ; Xing-Yi YANG ; Zhao-Fen LIN ; Lei ZHANG ; Shu-Ming PAN ;
Chinese Journal of Emergency Medicine 2006;0(09):-
Objective To establish an simple and convenient animal model of cardiac arrest for studying cerebral resuscitation.Method Clean male Sprague Dawley rats were randomly divided into sham group and experimental group.Cardiac arrest was induced by asphyxiation and ice-cold 0.5 mol KCl with blood flow cut off for 5 minutes.Animals were resuscitated with external cardiopulmonary resuscitation (CPR),mechanical ventilation,and epinephrine injection.Blood pressure,heart rate,successful ratio of resuscitation after 72 hours, time of cardiac arrest (T_(CA)) and return of spontaneous circulation (T_(ROSC)) were recorded.Neural deficit scores (NDS) and levels of maleic dialdehyde (MDA) in plasma were evaluated at 3,6,12,24,48,72 hours after ROSC.The damage score of cortex was measured by transmission electron microscope examination at 3 hours and 72 hours after ROSC.Results All the rats in experimental group had cardiac arrest rapidly.T_(CA) and T_(ROSC) were (137.3?10.2) seconds and (64.4?9.3) seconds,respectively,while the successful rate of resuscitation was 82.5%.The lowest NDS was at 3 hours after ROSC,while the NDS increased gradually.After CPR,the level of MDA in plasma increased significantly,slightly declined at 72 hours after ROSC,but still significantly higher than before the model.Electron microscope examination of cortex showed neuron slightly,organelle and astrocyte,but became better after 72 hours post ROSC.Conclusions The model of cardiac arrest was easy to establish,and the data provided was accurate,which is useful to study the mechanism of cerebral resuscitation.
9.Review on the etiological property of 1957 Asian flu virus (H2N2).
Ning DU ; Xiao-Xing YANG ; Lei YANG ; Yu-Hong ZENG ; Shu-Mei ZOU ; Hong BO ; Yuan-Ji GUO ; De-Xin LI ; Yue-Long SHU
Chinese Journal of Virology 2009;25 Suppl():12-16
10.Nicotine- and tar-free cigarette smoke extract reduces the penile erectile function of rats.
Shu-chao LIU ; Tian-peng WU ; Qi-xin DUAN ; Ling-qi LIU ; Chao SONG ; Wen-biao LIAO ; Si-xing YANG
National Journal of Andrology 2015;21(12):1071-1076
OBJECTIVETo evaluate the impact of nicotine- and tar-free cigarette smoke extract (fCSE) on the serum testosterone (T) level and erectile function of male rats.
METHODSWe randomized 30 male SD rats to three groups of equal number to receive subcutaneous injection of PBS (1.0 ml / 300 g body weight per day), fCSE (1.0 ml/300 g body weight per day), and reduced glutathione hormone (GSH, 200 mg per kg body weight per day) in addition to fCSE (fCSE + GSH), respectively, all for 8 weeks. Then we evaluated the erectile function of the rats by measuring the maximal intracavernous pressure (MICP), mean arterial pressure (MAP), ICP/MAP ratio, time of stimulation to MICP (Tmax), and cavernosal filling fate (CFR). We determined the serum T level, the activities of superoxide dismutase (SOD) , malondialdehyde (MDA), and nitric oxide synthase (NOS) in the cavernosal tissue, and also observed the morphological changes of the corpus cavernosum.
RESULTSCompared with the controls, the rats of the fCSE group showed obvious decreases in the levels of serum T ([5.37 ± 1.43] vs [3.22 ± 1.11] μg/L), NOS ([2.90 ± 0.27] vs [1.67 ± 0.18] U/mg) , and SOD ([18.41 ± 1.09] vs [13.36 ± 1.18] U/mg prot) and erectile function-related indexes MICP ([85.92 ± 6.36] vs [58.99 ± 10.76] mmHg), MICP/MAP (0.86 ± 0.09 vs [0.56 ± 0.08]), and CFR (2.14 ± 0.44 vs 0.89 ± 0.44), but markedly increased Tmax ([29.90 ± 5.78] vs [42.90 ± 8.56]s), with a positive correlation between the serum T level and CFR (r = 0. 364, P < 0.05). Masson staining revealed a lower ratio of the corpus cavernosum smooth muscle tissue to collagen fiber in the fCSE group (0.27 ± 0.04) than in the control (0.98 ± 0.12). Compared with the fCSE group, the fCSE + GSH group exhibited significantly improved MICP ([58.99 ± 10.76 ] vs [77.95 ± 7.71] mmHg), MICP/MAP (0.56 ± 0.08 vs 0.77 ± 0.09), and CFR (0.89 ± 0.44] vs 1.76 ± 0.42) and shortened Tmax ([42.90 ± 8.56 ] vs [32.10 ± 5.84 ] s). The ratio of the corpus cavernosum smooth muscle tissue to collagen fiber was higher in the fCSE + GSH than in the fCSE group (0.77 ± 0.09 vs 0.27 ± 0.04) but still lower than in the control (0.98 ± 0.12).
CONCLUSIONNicotine- and tar-free cigarette smoke extract reduces the serum T level and erectile function of rats, which is related to oxidative stress. Antioxidant therapy can improve erectile function but has a limited value for morphological protection of the penile tissue.
Animals ; Erectile Dysfunction ; chemically induced ; Male ; Malondialdehyde ; metabolism ; Muscle, Smooth ; pathology ; Nicotine ; Nitric Oxide Synthase ; metabolism ; Penile Erection ; drug effects ; Penis ; pathology ; Rats ; Rats, Sprague-Dawley ; Smoke ; adverse effects ; Superoxide Dismutase ; metabolism ; Tars ; Tobacco ; adverse effects