Diagnostic Techniques, Respiratory System ; Female ; Follow-Up Studies ; Homeodomain Proteins ; analysis ; therapeutic use ; Humans ; Hypoventilation ; physiopathology ; Male ; Sleep Apnea Syndromes ; diagnosis ; drug therapy ; therapy

Objective· To study the clinical and genetic features of familial paroxysmal exercise-induced dyskinesia (PED) in a Chinese mainland family,and review the advances of clinical and genetic studies on PED.Methods· The clinical information of 7 family members in one Chinese pedigree,including 5 patients and 2 healthy people,was analyzed and the patients' response to treatment and prediction were followed up.The SLC2A1 gene in all 7 members of this family was sequenced.The clinical and genetic characteristics of 5 patients were analyzed.Advances of recent clinical and genetic studies related with PED were further reviewed.Results · Among the total 5 patients (male:female=1:4),four patients had pure form of PED,and one patient had PED plus epilepsy.Attacks of the proband and his daughter could not be well controlled by carbamazepine or sodium valproate.In addition,three patients showed a remission trend with age advancing.In this family,the SLC2A1 c.C284T (p.S95L) was identified in all 5 patients,but not in 2healthy members.According to the American College of Medical Genetics and Genomics (ACMG) criteria and guideline,the variant SLC2A1 c.C284T (p.S95L) was classified as pathogenic variant.Conclusion · PED is a rare paroxysmal movement disorder with highly phenorypic heterogeneity as well as a remission trend with age advancing.This paper reviews advances in clinical and genetic studies on PED recently,in order to contribute to the clinical diagnosis and appropriate treatment of PED.

Objective To investigate the influence of genistein(Gen) on the growth and apoptosis regulation of hepatoma carcinoma cells SMMC-7721.Methods SMMC-7721 cells were divided into three Gen groups treated with different concentrations(5.0,10.0,20.0 mg?L-1) and control group(without Gen).After SMMC-7721 cells were treated for 24 and 48 h,the changes of ultrastructure of cells were observed under electron microscope, MTT was used to detect the inhibitory rate of proliferation of SMMC-7721 cells,flow cytometry was performed to analyze cell phase;immunohistochemistry was used to detect the expression of Caspases-3 protein.Results Compared with control group,chromatin in cellular nucleus became conglomeration or lumping,with chondriosome swelling in Gen groups.With the increasing of Gen concentration,the cellular nucleus became condensed,heterochromatin agglutinating,ground cytoplasm obviously cavitating;with the increase of Gen concentration and prolongation of time,from 24 to 48 h,MTT showed the inhibitory rate of proliferation of SMMC-7721 cells increased in a time-and dose-dependent manner.Flow cytometry analysis showed that with the increase of Gen concentration,the number of cells at G2/M phase increased,the number of cells at S phase decreased and the ratio of G0/G1 also decreased.Immunohistochemistry results showed the expression of protein Caspases-3 increased with the Gen concentration in a dose-dependent manner(P

Objective To study the inlfuence factors on detection of activity of four coagulation factors in prothrombin complex concentrates (PCC) by several factors. Methods Using Pharmacopoeia of the People’s Republic of China (2010) as reference, the activity of four coagulation factors in PCC were investigated by choosing different pre-treatments, different diluents, different salt concentration, different standard human plasma and different company reagents. Results The activity of FII, FVII, FX were decreased and FIX was increased in the condition of adding protamine sulfate, and there were no differences of four coagulation factors whether warm bath in 37 for 15 min or not. However, the differences of four coagulation factors were significant by using deficient plasma, saline, distilled water and commercial dilution buffer(P<0.05). The activity of coagulation factor II, X in 1 mol/L salt concentration of PCC were significantly lower than in 0.25 mol/L(P<0.05), while coagulation factor VII, IX were not. The activity of FII, FVII, FIX, and FX were different by using different standard human plasma to make standard curve. The activity of four coagulation factors existed significant difference(P=0.00) by using SIEMENS company reagents and domestic reagents. Conclusion Choosing different pre-treatments, different dilution buffers, salt concentration, standard human plasma and commercial kits will inlfuence the detection result of coagulation factors.

The Cashmere goat is mainly used to produce cashmere, which is very popular for its delicate fiber, luscious softness and natural excellent warm property. Keratin associated protein (KAP) and bone morphogenetic protein (BMP) of the Cashmere goat play an important role in the proliferation and development of cashmere fiber follicle cells. Bacterial artificial chromosome containing kap6.3, kap8.1 and bmp4 genes were used to increase the production and quality of Cashmere. First, we constructed bacterial artificial chromosomes by homology recombination. Then Tol2 transposon was inserted into bacterial artificial chromosomes that were then transfected into Cashmere goat fibroblasts by Amaxa Nucleofector technology according to the manufacture's instructions. We successfully constructed the BAC-Tol2 vectors containing target genes. Each vector contained egfp report gene with UBC promoter, Neomycin resistant gene for cell screening and two loxp elements for resistance removing after transfected into cells. The bacterial artificial chromosome-Tol2 vectors showed a high efficiency of transfection that can reach 1% to 6% with a highest efficiency of 10%. We also obtained Cashmere goat fibroblasts integrated exogenous genes (kap6.3, kap8.1 and bmp4) preparing for the clone of Cashmere goat in the future. Our research demonstrates that the insertion of Tol2 transposons into bacterial artificial chromosomes improves the transfection efficiency and accuracy of bacterial artificial chromosome error-free recombination.
Animals ; Bone Morphogenetic Proteins ; genetics ; Chromosomes, Artificial, Bacterial ; DNA Transposable Elements ; Fibroblasts ; Goats ; genetics ; Keratins ; genetics ; Transfection

Objective To investigate the interactions between melanoma-derived exosomes and the microenvironment.Methods The exosomes were isolated from the culture medium of mouse melanoma cells and then co-cuhured with mesenchymal stromal cells (MSC) after identification.Immunofluorescence assay was performed to observe the exosomes engulfed by MSC.CCK-8 and transwell assays were used to evaluate the proliferation and migration of MSC.Effects of the exosomes on the expression of α-smooth muscle actin (α-SMA) in MSC were analyzed by Western blot.Results Co-culture of MSC with melanoma cell-derived exosomes enhanced the proliferation and migration of MSC as well as the expression of α-SMA.All of the changes mediated by the exosomes could be blocked by using the inhibitor of TGF-β receptor.Conclusion Melanoma cell-derived exosomes enhanced the proliferation and migration of MSC as well as the expression of α-SMA through TGF-β signaling pathway,which provided an advantageous microenvironment for melanoma progression.

Acupuncture Points ; Acupuncture Therapy ; Adult ; Elephantiasis ; therapy ; Female ; Humans

Traditional Chinese medicine (TCM) is a great knowledge base that has been developed through thousands of years and has been accumulated a wealth of experience in diagnosis and treatment.TCM has advanced concepts,but lag behind the use of modern technology and means.With the progress of modern science and technology,the combination of TCM theory and moderm science and technology promotes the development of TCM engineering.TCM has been a breakthrough in diagnostic techniques and clinical treatment,especially modern TCM instruments.At present,diagnostic instruments of TCM mainly depend on pulse and tongue device,and gradually develop to four diagnostic comprehensive analysis platform.Therapeutic instruments of TCM include electroacupuncture device,meridian instrument,laser treatment device and magnetic therapy instrument.This article focuses on the current status,problems and trend on TCM diagnostic and therapeutic instruments,which mainly include diagnostic instruments,clinical treatment instruments,Chinese medical instruments.

Objective To observe the behavior changes and connexin 32(CX32),connexin 43(CX43)expressions in hippocampus and the effect of carbenoxolone on their expression in epileptic immature rats induced by lithium-pilocarpine.Methods Seventy-two SD immature rats of 21 d were randomly divided into control group(n=24),lithium-pilocarpine kindled group(n=24)and carbenoxolone treated group(n=24),each group by 24 h,3 d,7 d and 30 d were subdivided into 4 groups(n=6).Immuno-histochemisty was used to observe the expressions of CX32 and CX43 in hippocampus areas of immature rats,and to observe their behavior changes.Results The scores of the severe elileptiform seizures(Racine Ⅳ/Ⅴlevel)in lithium-pilocarpine group were significantly higher than those in carbenoxolone treated group;The latency in carbenoxolone treated group was prolonged significantly(P

Objective To investigate the therapeutic effects of TNF and IL 2 recombinant adenoviruses via intra arterial injection on metastatic liver cancer in rat model. Methods Recombinant adenoviruses harboring hTNF ? or hIL 2 gene were amplified in 293 cells and subjected to titration by the pathogenetic effects on 293 cell. The rats bearing metastatic liver cancer of Walker 256 breast carcinoma were randomly grouped and administered via gastra intestinal artery with hTNF ? recombinant adenoviruses alone, or hIL 2 recombinant adenoviruses alone, or at the dose of 1.0?10 9 pfu/rat. The therapeutic effects were observed including their survival time. Results The prepared recombinant adenoviruses of hTNF ? and hIL 2 were with the titers of 2.0?10 9 pfu/ml and 2.1?10 9 pfu/ml, respectively. 1.0 ?10 9 pfu hTNF was the proper dose. Administration of hTNF ? or hIL 2 recombinant adenoviruses via hepatic artery could extend the survival time of metastatic liver cancer bearing rats, with the better therapeutic effects achieved by combinatorial administration of these two adenoviruses. Conclusion Arterial administration of adenoviruses may be an effective approach to targeted immunogene therapy for cancer.