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1.
Chinese Journal of Neurology ; (12): 348-354, 2021.
Artigo em Chinês | WPRIM | ID: wpr-885427

RESUMO

Objective:To analyze the characteristics of clinical manifestation, auxiliary examination and gene mutation of 3-hydroxy-isobutyryl-coenzyme A hydrolase (HIBCH) deficiency to better understand this disease.Methods:The clinical manifestations and genetic results of a patient with HIBCH deficiency were analyzed. The clinical features and genetic characteristics of HIBCH deficiency were summarized based on the literature review.Results:The proband, female, one year and four months old, was admitted to Children′s Hospital Affiliated to Zhengzhou University for “vomiting and diarrhea for 15 days, dyspnea and intermittent convulsions for 13 days after digestive tract infection”. The intelligence was normal, however, the motor development was slightly delayed before onset. Physical examination showed light coma, poor response and insensitivity to light. She also had shortness of breath, weak positive three concave signs and coarse breath sound in both lungs with sputum purrs. In addition, the muscle tension of extremities was increased. Bilateral Brudzinski′s sign, Babinski′s sign and Kernig′s sign were negative. Serum hydroxybutyryl carnitine (C4OH) was increased. Cranial magnetic resonance imaging (MRI) showed atrophy in bilateral cerebral hemispheres and abnormal symmetry signals in bilateral globus pallidus and cerebral peduncle. Novel compound heterozygous variants of HIBCH, c.489T>A (p. C163*) and c.740A>G (p. Y247C), were found in the patient, which respectively inherited from her healthy parents. Her symptoms were relieved after“cocktail”therapy and symptomatic treatment. Literature related to HIBCH deficiency published all around the world was reviewed. As a result, 17 articles, including 24 cases, had been reported. The majority of patients presented with poor feeding, dystonia and progressive motor developmental delay in early infancy. Cranial MRI showed lesions in bilateral basal ganglia. Serum C4OH concentration was elevated. And compound heterozygous or homozygous variants of HIBCH gene were found in patients with HIBCH deficiency.Conclusions:The detection of serum amino acids and acylcarnitine profiles on HIBCH deficiency was relatively specific and it was helpful to make a clear diagnosis by combining with cranial MRI and genetic tests. In this study, a case of HIBCH deficiency was confirmed, which expanded the mutation spectrum of HIBCH gene. Meanwhile, summarizing the clinical and genetic characteristics of cases reported improved understanding of HIBCH deficiency.

2.
Chinese Journal of Blood Transfusion ; (12): 29-31, 2021.
Artigo em Chinês | WPRIM | ID: wpr-1003916

RESUMO

【Objective】 To analyze the related factors affecting perioperative blood transfusionin patients undergoing totalhysterectomy, explorethe effective measures to reduce allogeneic blood transfusion and provide data for the establishment of clinical blood transfusion single-disease evaluation index of total hysterectomy. 【Methods】 747 cases of total hysterectomy from three grade-A tertiary general hospitals and onematernal and child health care hospitalin Dalian wereselected, and divided into transfusion group(n=69)and non-transfusion(n=678). Detailed information was collected and analyzed, including patient demographics, operation information, blood routine before operation, postoperative recovery and transfusion volume. 【Results】 9.2%(69/747)of total hysterectomy patients received blood transfusion, with per capita red blood usageof(0.4±2.1)U. The age, operative time, volume of intra-operationbleeding, pre-operationhemoglobin(Hb) level, length ofhospital stay, types and days of antibiotics use between transfusion group and non-transfusion groupwere (49.7±9.1)vs(53±9.5)years old, (182.7±83.5)vs(119.5±64.8)min, (603±650)vs(160±173)mL, (96±26)vs(124±18)g/L, (9.3±4.8)vs(7.3±3.9)days, (2.2±1.1)vs(1.6±0.7)kinds, (6.0±3.9)vs (4.4±2.2)days, respectively, showing significant differences(P<0.05). Transfusion volumewas associated with volume of intra-operation bleeding (r=0.004), operative time (r=0.002) and Hb level of pre-operation(r=-0.022). 【Conclusion】 Blood management of patients undergoingtotal hysterectomy should be strengthened to reduce the incidence of allogeneic blood transfusion and improve patient outcomes by raising the pre-operation Hb level, shortening the operative time and reducing the volume of intra-operation bleeding.

3.
Chinese Journal of Medical Genetics ; (6): 1175-1178, 2019.
Artigo em Chinês | WPRIM | ID: wpr-799970

RESUMO

Objective@#To explore the feasibility of high performance liquid chromatography (DHPLC) combined with multiple ligation-dependent probe amplification (MLPA) for the prenatal diagnosis of spinal muscular atrophy (SMA).@*Methods@#Three families who had given birth to children with SMA type I were subjected to prenatal diagnosis. Peripheral blood samples were collected from the three couples, and 10 mL amniotic fluid was taken for each fetus through amniocentesis at 16-24 gestational week. Following DNA extraction, maternal contamination was excluded by STR analysis. Copy numbers of the SMN genes were detected by denaturing high performance liquid chromatography (DHPLC). Relative copy number of SMN1, SMN2 and reference genes was detected with a MLPA P021 assay kit.@*Results@#The three couples were all found to harbor heterozygous deletion of exon 7 of the SMN1 gene by DHPLC. MLPA analysis also suggested that the three couples were all carriers of SMA mutations. The fetus of family 1 harbored homozygous deletion of exons 7 and 8 of the SMN1 gene, in addition with heterozygous deletion of exons 7 and 8 of the SMN2 gene, suggesting that the fetus had SMA. The fetus of family 2 also harbored homozygous deletion of exons 7 and 8 of the SMN1 gene, while the copy number of SMN2 gene was normal, suggesting that the fetus was a SMA patient too. The fetus of family 3 harbored heterozygous deletion of exons 7 and 8 of the SMN1 gene, in addition with heterozygous deletion of exons 7 and 8 of the SMN2 gene, suggesting that the fetus was a carrier.@*Conclusion@#DHPLC can effectively screen carriers of SMA mutations. Combined DHPLC and MLPA can provide accurate diagnosis for fetuses with a high risk for SMA.

4.
Chinese Journal of Medical Genetics ; (6): 1175-1178, 2019.
Artigo em Chinês | WPRIM | ID: wpr-781323

RESUMO

OBJECTIVE@#To explore the feasibility of high performance liquid chromatography (DHPLC) combined with multiple ligation-dependent probe amplification (MLPA) for the prenatal diagnosis of spinal muscular atrophy (SMA).@*METHODS@#Three families who had given birth to children with SMA type I were subjected to prenatal diagnosis. Peripheral blood samples were collected from the three couples, and 10 mL amniotic fluid was taken for each fetus through amniocentesis at 16-24 gestational week. Following DNA extraction, maternal contamination was excluded by STR analysis. Copy numbers of the SMN genes were detected by denaturing high performance liquid chromatography (DHPLC). Relative copy number of SMN1, SMN2 and reference genes was detected with a MLPA P021 assay kit.@*RESULTS@#The three couples were all found to harbor heterozygous deletion of exon 7 of the SMN1 gene by DHPLC. MLPA analysis also suggested that the three couples were all carriers of SMA mutations. The fetus of family 1 harbored homozygous deletion of exons 7 and 8 of the SMN1 gene, in addition with heterozygous deletion of exons 7 and 8 of the SMN2 gene, suggesting that the fetus had SMA. The fetus of family 2 also harbored homozygous deletion of exons 7 and 8 of the SMN1 gene, while the copy number of SMN2 gene was normal, suggesting that the fetus was a SMA patient too. The fetus of family 3 harbored heterozygous deletion of exons 7 and 8 of the SMN1 gene, in addition with heterozygous deletion of exons 7 and 8 of the SMN2 gene, suggesting that the fetus was a carrier.@*CONCLUSION@#DHPLC can effectively screen carriers of SMA mutations. Combined DHPLC and MLPA can provide accurate diagnosis for fetuses with a high risk for SMA.


Assuntos
Criança , Feminino , Humanos , Gravidez , Cromatografia Líquida de Alta Pressão , Homozigoto , Atrofia Muscular Espinal , Diagnóstico , Técnicas de Amplificação de Ácido Nucleico , Diagnóstico Pré-Natal , Deleção de Sequência , Proteína 1 de Sobrevivência do Neurônio Motor , Genética , Proteína 2 de Sobrevivência do Neurônio Motor , Genética
5.
Chinese Circulation Journal ; (12): 1154-1157, 2017.
Artigo em Chinês | WPRIM | ID: wpr-663686

RESUMO

Objective:To explore the relationship between single nucleotide polymorphism (SNP) rs4977574 in CDKN2B-AS1 gene and female premature coronary artery disease (pCAD) occurrence. Methods: Our research included 2 groups: pCAD group, n=226 consecutive patients≤65 years of age and Control group, n=79 subjects with matched age,without CAD. The genotype of CDKN2B-AS1 SNP rs4977574 was detected by SNaPshot. Blood levels of total cholesterol (TC), low-density lipoprotein cholesterol (LDL-C), high-density lipoprotein cholesterol (HDL-C), triglycerides (TG), uric acid (UA), fasting plasma glucose (FPG) and glycosylated hemoglobin (HbA1c) were examined; relationships between rs4977574 polymorphism and the above parameters were assessed. Results: Compared to Control group, pCAD group had increased blood levels of TG, UA, FPG and HbA1c, P<0.05. With adjusted age, body mass index (BMI), relevant disease history and risk factors, elevated HbA1c (HbA1c>6.2%) obviously increased the risk of female pCAD occurrence (OR=3.35, 95%CI 1.41-8.00, P=0.006). The genotype and allele frequency of rs4977574 were different between pCAD group and Control group, P<0.05. Compared to Control group, pCAD group had the higher frequency of G allele(OR=1.24, 95%CI 1.05-1.48, P=0.019); further analysis found that rs4977574 polymorphism was related to high HbA1c. Compared to AA genotype, GG+GA genotype had the increased incidence of high HbA1c(OR=2.08, 95%CI 1.11-3.89, P=0.022). Conclusion: CDKN2B-AS1 SNP rs4977574 was related to female pCAD occurrence and it was also related to high HbA1c.

6.
Chinese Pharmaceutical Journal ; (24): 284-288, 2016.
Artigo em Chinês | WPRIM | ID: wpr-859205

RESUMO

OBJECTIVE: To observe the effect and mechanism of Bauhinia championii flavones (BCF) on anti-hypoxia/reoxygenation injury in cardiomyocytes via inhibiting necroptosis. METHODS: The cardiomyocytes hypoxia/reoxygenation injury model was developed and pretreated with Bauhinia championii flavones. ELISA was used to evaluate the contents of TNF-α, and the activities of T-AOC were determined by ultraviolet spectrophotometric method. The protein expression of RIPK3 was observed by Western-blotting, and the necroptosis rate was determined by using Annex v-FITC/PI double staining. RESULTS: Compared with model group, Bauhinia championii flavones pretreatment alleviated cardiomyocytes injury, increased T-AOC level, decreased the activity of TNF-α, down-regulated the expression of RIPK3, and inhibited cardiomyocytes necroptosis (P<0.05). It had synergistic effect when combined BCF with necrostatin-1 (P<0.05). CONCLUSION: BCF can inhibit necroptosis and has protective effects on hypoxia/reoxygenation injury, which are associated with increasing the level of T-AOC, down-regulating TNF-α and RIPK3, and decreasing the cardiomyocytes necroptosis rate.

7.
Chinese Journal of Applied Clinical Pediatrics ; (24): 846-850, 2016.
Artigo em Chinês | WPRIM | ID: wpr-497678

RESUMO

Objective To evaluate the effect of Budesonide combined with Poractant Alfa(pulmonary surfactants,PS) on preventing the bronchopulmonary dysplasia (BPD) in preterm infants.Methods One hundred and twenty preterm infants 6 hours after birth(gestational ages≤32 weeks and birth weights ≤1500 g)admitted to the Department of Newborn Medicine,the Affiliated Hospital of Southeast Medical University from October 2013 to February 2015 were randomly divided into 4 group(30 cases in each group).Group A was a control group,group B was neonatal respiratory distress syndrome(NRDS) group,group C was NRDS with PS group,and group D was NRDS with PS and Budesonide group.Thirty-two-week preterms without other diseases and without uptaking oxygen within 48 h were assigned as group A.Group B were treated by continuous uptaking oxygen with continuous positive airway pressure(CPAP) (oxygen uptaken lasting more than 48 h and oxygen concentrations more than 40%).Group C were treated with 100 mg/kg PS within 48 h on the basis of group B.Group D were treated with 0.25 mg/kg Budesonide suspension for inhalation on the basis of group C.The pH value,partial pressure of oxygen [pa(O2)],partial pressure of carbon dioxide [pa(CO2)] in the blood gas analysis were all detected in all groups before treatment,1,6,12,24 and 48 hours after using drug,respectively.All groups were also observed for whether to use respirator assisted ventilation,the duration of high oxygen use,the total time of uptaking oxygen,the rate of using PS again,the rate of BPD,the total hospitalization days and the adverse effects.The adverse effects included high blood pressure,high blood sugar,necrotizing enterocolitis and the incidence of nosocomial infection.Results Compared with group B,the pH value at 1 and 6 hours after using drugs,the pa(O2) and pa(CO2) at 1,6 and 12 hours after using drugs were improved obviously in the group C,and the differences were statistically significant (all P<0.01).Compared with group B,the above indicators were improved more obvious in group D,and the differences were statistically significant (all P<0.01).Moreover,compared with the group B,the oxygen inhalation duration,the rate of having a respirator assisted ventilation and using PS again,and the incidence of BPD were obviously decreased in other groups,the differences were statistically significant (all P<0.05).The incidence of BPD in group D was less than that of group C,and the differences were statistically significant (3.33% vs 10.00%,x2=4.00,P=0.046).The total oxygen time and the rate of adverse effects of each group were similar.The differences were not statistically significant (all P>0.05).Conclusions Budesonide combined with Poractant Alfa can prevent BPD in preterm infants.Its effect is better than the simple use of Poractant Alfa,and the rate of adverse effects are not increased significantly.

8.
Chinese Journal of Contemporary Pediatrics ; (12): 496-501, 2015.
Artigo em Chinês | WPRIM | ID: wpr-346119

RESUMO

<p><b>OBJECTIVE</b>To explore the effect of silence of Pin1 expression on hyperoxia-induced apoptosis in alveolar epithelial cells A549.</p><p><b>METHODS</b>A549 cells were divided into four groups: control, hyperoxia, negative lentivirus and Pin1-shRNA hyperoxia. The hyperoxia group was exposed to a mixture of 95%O2 and 5%CO2 for 10 minutes. Then cells were cultured in a closed environment. After 24 hours, the changes of morphology were observed under an inverted microscope. Cell apoptosis was detected by flow cytometry (FCM). The expression of X-linked inhibitor of apoptosis protein (XIAP) and Caspase-9 were detected by immunohistochemistry. The production of reactive oxygen species (ROS) and cellular mitochondria membrane potential (△Ψm) were determined by fluorescence microscopy.</p><p><b>RESULTS</b>Under the inverted microscope, the A549 cells grew slowly and the changes in morphology of the cells were most obvious in the hyperoxia and negative lentivirus groups. The changes in morphology of A549 cells were obviously improved in the Pin1-shRNA hyperoxia group. The FCM results showed that the apoptosis rate of A549 cells increased, Caspase-9 expression increased, XIAP expression decreased, mitochondrial ROS production increased and mitochondrial membrane potential decreased in the hyperoxia and negative lentivirus groups compared with the control group (P<0.05). Compared with the hyperoxia and negative lentivirus groups, the apoptosis rate of A549 cells decreased, Caspase-9 expression decreased, XIAP expression increased, mitochondrial ROS production decreased and mitochondrial membrane potential increased in the Pin1-shRNA hyperoxia group (P<0.05), although the levels of the indexes did not reach to those of the control group.</p><p><b>CONCLUSIONS</b>Silencing of Pin1 could suppress hyperoxia-induced apoptosis of A549 cells.</p>


Assuntos
Humanos , Apoptose , Caspase 9 , Genética , Hiperóxia , Patologia , Potencial da Membrana Mitocondrial , Peptidilprolil Isomerase de Interação com NIMA , Peptidilprolil Isomerase , Fisiologia , Espécies Reativas de Oxigênio , Metabolismo , Proteínas Inibidoras de Apoptose Ligadas ao Cromossomo X , Genética
9.
Organ Transplantation ; (6): 224-229, 2015.
Artigo em Chinês | WPRIM | ID: wpr-731589

RESUMO

Objective To investigate clinicopathologic characteristics,individualized immunotherapy and prognosis of antibody-mediated rejection (AMR)after renal transplantation.Methods Clinical data of 32 patients,who were confirmed as AMR after renal transplantation by pathology and admitted in the Department of Urology and Renal Transplantation of the First Affiliated Hospital of Henan Traditional Medical College from January 2010 to December 2013,were retrospectively studied.The corresponding immunological intervention was adopted according to the clinicopathologic characteristics of different patients.The indicators including renal function,panel reactive antibody (PRA)and serum immunoglobulin (Ig)G,IgA and IgM level before and after treatment were determined,and adverse reactions were observed.Results Of all 32 patients, 18 developed acute antibody-mediated rejection (AAMR ) and 14 developed chronic antibody-mediated rejection (CAMR).Of 13 PRA-positive patients,8 (62%,8 /13)cases were with donor specific antibody and 5 (38%,5 /13)cases were with non-donor specific antibody.The primary pathological manifestations of early AAMR were changes of acute tubular necrosis (ATN ),peritubular capillary inflammation,glomerulitis, fibrinoid necrosis of small arteries,linear C4d deposition in peritubular capillaries (PTC)and immunoglobulin or C3 deposition in arterial wall.The pathological manifestations of CAMR were changes of glomerulopathy, splitting of PTC basement membrane,fibrous intimal thickening and diffuse C4d deposition in PTC.After treatment,the renal function of 20 (63%,20 /32)patients returned to normal,the renal function of 7 (22%, 7 /32)patients were stable,the serum creatinine (Scr)of 5 (16%,5 /32)patients increased slowly.Of such 5 patients,2 (2 /5 )patients continued hemodialysis,3 (3 /5 )patients did not need hemodialysis and no patient died.The indicators including blood urea nitrogen (BUN),Scr,PRA and serum IgG,IgA and IgM after treatment decreased significantly when compared with those before treatment (all in P <0.01).No serious adverse reaction was noted during the treatment.Conclusions AMR may manifest as AAMR or CAMR after renal transplantation.The gold standard for diagnosing AMR is pathologic biopsy of transplant kidney.To adopt effective individualized immunotherapy in time is the critical measure for treatment of AMR.

10.
Chongqing Medicine ; (36): 73-75,83, 2015.
Artigo em Chinês | WPRIM | ID: wpr-600762

RESUMO

Objective To construct p66shc gene interfering lentivirus vectors recombination and transfect it to 293T cells ,RNA interfering was carried out to induce p66shc gene silence ,so as to provide basis for further study of the p66shc function .Methods Screening of three RNA targets which were named after p66shc‐shc1 ,p66shc‐shc2 ,p66shc‐shc3 ,cloned into the pLenR‐GPH vec‐tor ,which contained green fluorescent protein(GFP) and transformed into DH5αcells .The positive clone were picked out for right sequencing and transfected to 293T cells with pRsv‐REV ,pMDlg‐pRRE ,pMD2G .The expression of GFP in inverted fluorescence microscope confirmed the virus packaging success .Fluorescence quantitative PCR and Western blot technology were used to investi‐gate the expression of p66shc at the molecular and protein levels ,p66shc‐shc1 target of effective silencing p66shc gene was selected to prepare for subsequent tests .Results The shRNA lentivirus vector was constructed which could express p66shc and was trans‐fected into 293T cells successfully .Fluorescence quantitative PCR and Western blot technology were used to investigate p66shc gene silence by RNA interference .Conclusion The lentivirus RNAi vector of targeted expression p66shc could induce p66shc gene si‐lence at the molecular and protein levels after transfected into 293T cells by RNA interference .

11.
Chinese Pharmacological Bulletin ; (12): 232-236, 2015.
Artigo em Chinês | WPRIM | ID: wpr-462598

RESUMO

Aim To study the effects of Bauhinia championii flavones ( BCF ) on adjusting autophagy a-gainst myocardial ischemia reperfusion injury. Meth-ods 120 SD rats were randomly divided into control, model, 3-MA (15 mg·kg-1 ) and BCF (10, 20 mg ·kg-1) groups (n=8). 30min. ischemia, ischemia/reperfusion 1h. or 3h, while myocardial ischemia reperfusion model was established by ligating left ante-rior descending coronary artery. The contents of crea-tine kinase-MB ( CK-MB) , inducible nitric oxide syn-thase ( iNOS ) and total antioxidative capacity ( T-AOC ) in serum were determined according to the ultra-violet spectrophotometer colorimetric method. The pro-tein expression of LC3-Ⅱ, Beclin-1 and mTOR was observed by Western blot. Results Compared with model group, BCF dose-dependently improved T-AOC, decreased CK-MB and iNOS ( P < 0. 05 ) . Meanwhile, BCF down-regulated the protein expression of LC3-Ⅱand Beclin-1 , and up-regulated mTOR pro-tein expression ( P < 0. 05 ) . Compared with 3-MA group, BCF reduced the contents of CK-MB and iN-OS, increased the level of T-AOC. It raised LC3-Ⅱand Beclin-1 protein expression at 30min. of ischemia, and then declined the protein expression of LC3-Ⅱand Beclin-1 . BCF descended the protein expression of mTOR all over the time ( P <0. 05 ) . Conclusion Autophagy occurs in ischemia then improves in ische-mia/reperfusion period. BCF could promote the occur-ring of autophagy at 30min. of ischemia in the short term and inhibit the excessive expression of autophagy with the increase of time in reperfusion period. BCF pretreatment reduce myocardial ischemia/reperfusion injury may by promoting the occurrence of autophagy during ischemia period and inhibit them in reperfusion.

12.
Chinese Journal of Rehabilitation Theory and Practice ; (12): 395-397, 2014.
Artigo em Chinês | WPRIM | ID: wpr-927227

RESUMO

@#China Partner Network (CPN) training project would train professionals for better management of children rehabilitation, including advanced theory and manipulation in treatment and functional assessment of children with cerebral palsy, psychological education,and orthotics as well as operation and non-operation protocols. Domestic status quo in this area and some other relevant experiences were also compared with CPN.

13.
China Oncology ; (12): 292-298, 2014.
Artigo em Chinês | WPRIM | ID: wpr-448128

RESUMO

Background and purpose: Cyclin-dependent kinase 4 (CDK4) is a kind of protein kinases regulating the cell cycle progression, which has been reported to be overexpressed in endometrial carcinoma tissues. But the role of CDK4 in endometrial carcinogenesis and relative mechanisms has not been identiifed yet. In this study, we used a small interfering RNA targeting CDK4, and explored the effects of CDK4 on endometrial cancer cells HEC-1B biological function and relative mechanisms.Methods:The chemically synthesized small interfering RNA targeting CDK4 (si-CDK4) was transiently transfected into HEC-1B cells;the quantitative real time-PCR assays and Western blot assays were performed to explore the mRNA and protein expression levels of CDK4 and its downstream genes, Rb and p-Rb, in HEC-1B cells upon transfection;Moreover, the CCK-8, lfow cytometry (FCM) and invasion assays were performed to indentify the effects of si-CDK4 on the proliferation, cell cycle distribution, apoptosis and invasion abilities of HEC-1B cells, respectively. Results:The results showed that the mRNA and protein expressions of CDK4 were suppressed in HEC-1B cells upon transfection with si-CDK4 (P<0.01);Suppression of CDK4 inhibited cell proliferation and invasion of HEC-1B cells;the number of cells migrating through the transwell membrane in si-CDK4 group was 117±21, which was much fewer than the cells in si-control (269±39) and untreated groups (262±35) (P<0.01);the early apoptosis rate of cells treated with si-CDK4 [(21.7±3.5)%] was much higher than the untreated [(12.4±2.1)%] and si-control groups [(11.8±1.9)%] (P<0.01);moreover, suppression of CDK4 increased cells in G1 phase (P<0.01) and correspondingly decreased cells in S phase (P<0.01);further Western blot results showed that suppression of CDK4 down-regulated the expression of p-Rb in cells, but did not inlfuence the expression of total Rb. Conclusion:CDK4-siRNA speciifcally and efifciently blocks the constitutively activated CDK4 in human endometrial cancer cells HEC-1B, resulting in tumor suppression.

14.
Chinese Journal of Medical Genetics ; (6): 116-120, 2013.
Artigo em Chinês | WPRIM | ID: wpr-232191

RESUMO

<p><b>OBJECTIVE</b>To investigate allelic frequencies of interluekin-10 (IL-10) gene promoter in Miao, Dong and Buyi ethnics of Guizhou.</p><p><b>METHODS</b>TaqMan MGB-based real-time PCR was used to determine the genotypes of IL-10 -819 and IL-10 -592 in 589 Miao, Dong and Buyi ethnics of Guizhou.</p><p><b>RESULTS</b>The allelic frequency of IL-10 -819 in Miao ethnics was significantly different from those in Dong or Buyi ethnics. Allelic frequencies of IL-10 -592 in Miao ethnics was significantly different from those in Dong or Buyi ethnics. In Miao, Dong and Buyi ethnics, the distributions of genotype frequencies of IL-10 -819 and IL-10 -592 were statistically different from Han ethnics from Guizhou and Taiwan of China as well as South Koreans.</p><p><b>CONCLUSION</b>There is a heterogeneity in the frequencies of polymorphisms of IL-10 promoter among different ethnic groups.</p>


Assuntos
Humanos , Alelos , Povo Asiático , Etnologia , Genética , China , Etnologia , Frequência do Gene , Genética Populacional , Genótipo , Interleucina-10 , Genética , Polimorfismo de Nucleotídeo Único , Grupos Populacionais , Genética , Regiões Promotoras Genéticas
15.
Chinese Journal of Medical Genetics ; (6): 233-236, 2013.
Artigo em Chinês | WPRIM | ID: wpr-237274

RESUMO

<p><b>OBJECTIVE</b>To study the frequency of a 9 bp deletion polymorphism of mitochondrial DNA (mtDNA) in ethnic Miao, Buyi and Dong populations from Guizhou province.</p><p><b>METHODS</b>Polymerase chain reaction-polyacrylamide gel electrophoresis (PCR-PAGE) was used to detect the 9 bp deletion. The result was verified with DNA sequencing.</p><p><b>RESULTS</b>Two polymorphisms, including a standard pattern and a short pattern (the 9 bp deletion), were found among the three ethnic groups. The frequency of short pattern in 304 males was 23.0%. Respectively, those of Miao, Buyi and Dong ethnics were 28.6%, 26.8% and 13.7%. A statistically significant difference was detected among the three groups (P<0.05).</p><p><b>CONCLUSION</b>The frequencies of the 9 bp polymorphism were relatively high among ethnic Miao, Buyi and Dong populations from Guizhou, and there was a significant difference between the three.</p>


Assuntos
Humanos , Masculino , Sequência de Bases , China , Etnologia , DNA Mitocondrial , Genética , Deleção de Genes , Dados de Sequência Molecular , Reação em Cadeia da Polimerase , Polimorfismo Genético , Análise de Sequência de DNA
16.
Chinese Journal of Epidemiology ; (12): 1279-1282, 2012.
Artigo em Chinês | WPRIM | ID: wpr-327704

RESUMO

Objective To investigate the association between both regulated upon activation normal T cell expressed and secreted (RANTES)-403G/A,-28C/G gene polymorphism and the susceptibilities to hepatitis B virus (HBV) infection,among people with Dong and Han ethnicities,in Guizhou.Methods A total of 229 individuals with HBV persistence infection,161 HBV clearanced patients and another 200 controls were recruited to conduct a case-control study among residents with Dong or Han ethnicities.Allelic frequencies of both RANTES-403G/A and-28C/G were identified by TaqMan-MGB probe.Results Both RANTES-403G/A and-28C/G polymorphism in the HBV-persistent group,when compared to the HBV-clearances group,no significant difference was found (P>0.05).Results from the univariate analysis showed that subjects carrying-403AG and-28GG genotype had higher risk on the susceptibility to HBV persistence infection.The distributions of RANTES-28C/G gene polymorphism between Dong minority and Han ethnicities regarding HBV persistence showed statistically significant difference (P<0.05).There was no difference on the distributions of RANTES-403G/A gene polymorphism between Dong minority and Han ethnicities.Conclnsion Patients that carrying both RANTES-403AG and-28GG genotype had higher risk on the persistence to HBV,while RANTES-403A had contributed to the clearance of HBV infection.

17.
Chinese Journal of Orthopaedics ; (12): 897-903, 2011.
Artigo em Chinês | WPRIM | ID: wpr-424385

RESUMO

Objective To explore the biomechanical function of PCL and its different bundles and examine the biomechanical impact of posterior cruciate ligament (PCL) integrity on the medial femoral condyle. Methods Twelve fresh human cadaveric knee specimens were subjected to different axial load (0-800 N) at 0°, 30°,60°, and 90°of knee flexion. Four surgical treatments were carried out for biomechanical testing: PCL intact, anterolateral bundle (ALB) rupture, posteromedial bundle (PMB) rupture and PCL rupure. During the test, strains of middle part of the medial femoral condyle were calculated. Results At O°knee flexion, increasing strain of the medial femoral condyle was detected in PMB rupture and PCL rupture under all loading conditions. No significant difference of strain of the medial femoral condyle was noted between PCL intact and ALB rupture under any loading conditions. Compared to PMB rupture, PCL rupture had not higher strain of the medial femoral condyle under all loading conditions. At 30°, 60° and 90° knee flexion, increasing strain of the medial femoral condyle was noted in ALB rupture under higher loading conditions and PCL rupture under all loading conditions. ALB rupture under lower loading conditions and PMB rupture under all loading conditions did not significantly increased strain of the medial femoral condyle. PCL rupture had higher strain of the medial femoral condyle than ALB rupture under most of loading conditions.Conclusion The data suggest that PMB is the major stabilizing bundle of PCL in full extension, ALB is the major stabilizing bundle of PCL in knee flexion, and both bundles function through the ROM in a codominant fashion. Partial and complete ruptures of PCL may have hazardous biomechanical impacts on the medial femoral condyle during normal movement.

18.
Chinese Journal of Virology ; (6): 53-57, 2010.
Artigo em Chinês | WPRIM | ID: wpr-297918

RESUMO

By inoculation of blood samples in DF-1 (C/E) cell culture, an exogenous avian leukosis virus (ALV) strain SDAU09C2 was isolated from a breeder farm of Chinese native breed "Luhua" in Shandong province. Comparisons of the amino acid sequence of env gene gp85 from the isolate with those from other ALV reference strains of different subgroups indicated that SDAU09C2 had the highest gp85 identity to two reference strains of subgroup B of 92.5%. Its gp85 identity to other chicken ALV subgroups A, C, D, E was in the range of 73.2%-87.9%. The identity to subgroup J was only 30.3%-32.4%. This is the first report on isolation and identification of ALV-B and its gp85 from Chinese native breed chickens.


Assuntos
Animais , Feminino , Sequência de Aminoácidos , Leucose Aviária , Virologia , Vírus da Leucose Aviária , Química , Classificação , Genética , Cruzamento , Galinhas , Dados de Sequência Molecular , Filogenia , Doenças das Aves Domésticas , Virologia , Proteínas do Envelope Viral , Química , Genética
19.
Chinese Journal of Applied Physiology ; (6): 172-176, 2010.
Artigo em Chinês | WPRIM | ID: wpr-340203

RESUMO

<p><b>OBJECTIVE</b>To investigate expression and clinical significance of VEGF and apoptosis in frozen-thawed mouse ovaries after transplantation.</p><p><b>METHODS</b>Ovaries from B6C2F1 (C57BL/6j x BALB/c) 4 week old mice were cryopreservation and the thawed ovaries were xenografted into kidney capsules of 8-12 week old adult male mice. The grafted were recovered 1 d, 2 d and 7 d after transplantation respectively, the grafts and frozen-thawed were removed for follicle counting and immunohistochemically, ultrastructure, and detection of the mRNA expression of vascular endothelial growth factor(VEGF).</p><p><b>RESULTS</b>The follicle numbers were decreased gradually after transplantation,the cell apoptosis increased especially in 48 h after transplantation. Transmission electron microscopy (TEM) showed the tissue damaged was severest 48 h after transplantation; the expression of VEGF increased after transplantation, peaked on day 7, the mRNA expression of VEGF120 and VEGF188 was more on 48 h after transplantation, decreased on day 7 (P < 0.05).</p><p><b>CONCLUSION</b>The number of follicles was decreased after transplantation, the apoptosis index was increased especially in 48 h after transplantation; the expression of VEGF increased after transplantation, an increase in the VEGF188 and VEGF164 isoform might suggest the positive effect in the early stages of angiogenesis.</p>


Assuntos
Animais , Feminino , Masculino , Camundongos , Apoptose , Fisiologia , Criopreservação , Preservação de Órgãos , Folículo Ovariano , Patologia , Ovário , Patologia , Transplante , Fator A de Crescimento do Endotélio Vascular , Metabolismo
20.
Acta Anatomica Sinica ; (6): 93-99, 2010.
Artigo em Chinês | WPRIM | ID: wpr-404341

RESUMO

Objective To investigate the angiogenesis effects of Salvia miltiorrhiza in heterotopically grafted frozen-thawed mouse ovaries. Methods The ovaries thawed after cryopreservation were xenografted into the donated kidney capsules of 8- to 12-week adult male mice. The mice were divided into two groups, saline and Salvia miltiorrhiza groups, the mice either in the saline or in Salvia miltiorrhiza groups were administered I.p. Daily either saline(0.5ml) or Salvia miltiorrhiza(0.5g)respectively, from the day prior transplantation. The two groups were sacrificed 1 day,2 days and 7 days after transplantation respectively, the grafts from thawed,1 day,2 days,7 days were removed for follicle counting, immunohistochemical studying and detecting of the mRNA expression of vascular endothelial growth factor(VEGF). Results The number of follicles and survival rates in grafts after transplantation of Salvia miltiorrhiza group were more than that of saline group (P<0.05);the expression of VEGF increased after transplantation,peaked on day 7,there was no difference between the two groups (P>0.05);the apoptosis index of Salvia miltiorrhiza group was less than that of saline group (P<0.05), the mRNA expression of VEGF188 and VEGF164 of Salvia miltiorrhiza group was more than that of saline group on 48 hours after transplantation(P<0.05). Conclusion Salvia miltiorrhiza may provide benefits for folliculogensis and decreasing the apoptosis index of follicles. Nevertheless,a increase in the VEGF188 and VEGF164 isoform in the Salvia miltiorrhiza group may suggest the positive effect of exogenous Salvia miltiorrhiza therapy in the early stage of angiogenesis.

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