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.

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 evaluate the efficacy difference between flupentixol and melitracen combined with conventional medicine and conventional drug alone in the treatment of irritable bowel syndrome (IBS).Methods Studies on flupentixol and melitracen combined with conventional medicine (pinaverium bromide and trimebutine maleate) and conventional medicine alone in the treatment of IBS were collected and reviewed through searching the Chinese Academic Journals Full-text Database,Chinese VIP Full-text Database and PubMed database.After that,the test for homogeneity and the combined effect test were estimated. Results A total of 12 clinical studies on flupentixol and melitracen combined with conventional medicine for four to twelve weeks in the treatment of IBS were collected six studies indicated the homogeneity test of flupentixol and melitracen combined with pinaverium bromide (x2 =1.90,df=5,P=0.86,I2 =0).For the fixed-effect model,the odds ratio was 7.92 and 95％ CI was between 4.85 and 12.95,which suggested the combined therapy was better.The other six studies indicated the homogeneity test of flupentixol and melitracen combined with trimebutine maleate (x2 =5.60,df=5,P =0.35,I2 =10.6 ％).For the fixed-effect model,the odds ratio was 5.91 and 95％ CI was between 4.06 and 8.61,which suggested the combined therapy was better.After merging the 12 studies it indicated the homogeneity test of flupentixol and melitracen combined with conventional medicine (x2 =8.40,df =11,P =0.68,I2 =0).For the fixed effect model,the odds ratio was 6.63 and 95％ CI was between 4.92 and 8.93.Conclusion The efficacy of flupentixol and melitracen combined with conventional medicine in the treatment of IBS was better than that of conventional medicine alone,however,still more high quality trials are needed for further confirmation.

Objective To explore the characteristics of lymph node metastasis in gastric stump cancer and the efficacy of surgical treatment. Methods The clinical data of 42 patients with gastric stump cancer (test group) and 56 patients with primary cancer in the upper stomach (control group) who were admitted to The First Affiliated Hospital of Dalian Medical University from January 1994 to January 2008 were retrospectively analyzed. All data were analyzed by t test and chi-square test. The survival of the patients and lymph node metastasis rate were analyzed using the Kaplan-Meier method and Log-rank test, respectively. Results The metastasis rates of lymph nodes 1-3 of the test group and control group were similar (43%-61%), with no significant difference between the 2 groups (χ2 = 0.752, 0. 833, 0. 678, P > 0. 05). The metastasis rates of lymph nodes 7-9 of the test group and control group were 22% , 18% , 25% and 46% , 25% , 30% , respectively, and this was signifi-cantly different between the 2 groups (χ2 = 2. 168, 3. 263, 5. 761, P < 0. 05). The metastasis rates of lymph nodes 10-14 were 47% , 36% , 31% , 20% and 25% in the test group, which were significantly higher than 33% , 34% , 19% , 6% and zero in the control group, respectively (χ2 =3.225, 1.883, 3.945, 4.137, 6.823, P <0.05). The metastasis rate of lymph node no. 16 was zero in the test group and 23% in the control group. The metastasis rate of jejunal mesenteric lymph nodes was 27% in the test group and zero in the control group. The accumulative 5-year survival rate of patients was 38% in the test group and 48% in the control group, and this was significantly different (χ2 =4. 165, P<0.05). The overall 5-year survival rate of patients with radical resection was not significantly different between degree A (54%) and B (57%) (χ2 = 0. 622, P > 0. 05). Conclusions Gastric stump cancer has a unique pattern in lymph node metastasis. Surgical resection is effective in improving the prognosis of patients with gastric stump cancer.

Objective　To develop the newborn screening and treatment for congenital hypothyroidism (CH) in order to prevent the children from growth and mental retardation and to improve the population quality in China. Methods　TSH value in the dried-blood spot speciments on the filter papter was measured by time-resolved fluorescence immunoassay (Tr-FIA). Clinical analysis for the CH patients was performed. Results　Among 315　　472 neonates screened for CH, 66 (47 overt and 19 subclinical) cases of CH were confirmed and the incidence of CH was 1/4　　780. Among the 47 typical cases, 2 infants were recognized with transient hypothyroidism, 2 infants were not reevaluated because of below 2 year old, 1 infant died, 1 case gave up treatment, the rest 41 infants were permanent CH. Among the 19 atypical cases, 7 cases were recognized with permanent CH, 4 cases with transient disease, 5 cases with hyperthyrotropinemia, 3 cases were not evaluated because of below 2 years old at that time. The patients followed in the clinic are all currently with normal growth and intellectual development. Conclusion　Our center is the first labolatory to screen CH with Tr-FIA in China. Tr-FIA is an ideal non-radioactive technology. The typical patients as well as atypical cases should be all treated using L-thyroxine. It is essential to arrange a trial treatment for confirming the diagnostic results from screening and to decide whether they need a lifetime treatment.