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1.
Artigo em Chinês | WPRIM | ID: wpr-988730

RESUMO

ObjectiveTo discuss the origin of rare abnormal karyotypes of fetuses with high risk of trisomy 18 revealed by non-invasive prenatal testing (NIPT) and its impact on fertility. MethodsThe cytogenetic and molecular genetic analyses were performed on the abnormal chromosomes of a prenatally diagnosed fetus with rare complete translocation trisomy 18. Using the keywords “translocation trisomy 18” or “trisomy 18 translocation” in both Chinese and English, we searched PubMed, CNKI, SinoMed, WanFang Data, CQ VIP and the Chinese Medicine database. The relevant case series were retrieved and critically appraised. ResultsG-banded karyotype analysis showed that the maternal karyotype was 46,XX,t(9;18)(q31.2;q23) and the fetal karyotype was 47, XN, t (9; 18) (q31.2;q23)mat, +18, which was a rare complete translocation type of trisomy 18. The SNP array revealed the fetus had increased copy number of chromosome 18 and two complete chromosome 18 inherited from the mother with balanced chromosomal translocation. Literature search found two children with complete translocation trisomy 18 reported abroad. Both of them had trisomy 18 phenotype and originated from the balanced translocation between parental chromosome 18 and other chromosomes. ConclusionNIPT gives an effective advance warning of trisomy 18. SNP array not only improves the detection rate of chromosomal abnormalities, but also helps identify the origin. The karyotype is still the gold standard for prenatal diagnosis.

2.
Artigo em Inglês | WPRIM | ID: wpr-970300

RESUMO

OBJECTIVE@#This study was aimed at investigating the carrier rate of, and molecular variation in, α- and β-globin gene mutations in Hunan Province.@*METHODS@#We recruited 25,946 individuals attending premarital screening from 42 districts and counties in all 14 cities of Hunan Province. Hematological screening was performed, and molecular parameters were assessed.@*RESULTS@#The overall carrier rate of thalassemia was 7.1%, including 4.83% for α-thalassemia, 2.15% for β-thalassemia, and 0.12% for both α- and β-thalassemia. The highest carrier rate of thalassemia was in Yongzhou (14.57%). The most abundant genotype of α-thalassemia and β-thalassemia was -α 3.7/αα (50.23%) and β IVS-II-654/β N (28.23%), respectively. Four α-globin mutations [CD108 (ACC>AAC), CAP +29 (G>C), Hb Agrinio and Hb Cervantes] and six β-globin mutations [CAP +8 (C>T), IVS-II-848 (C>T), -56 (G>C), beta nt-77 (G>C), codon 20/21 (-TGGA) and Hb Knossos] had not previously been identified in China. Furthermore, this study provides the first report of the carrier rates of abnormal hemoglobin variants and α-globin triplication in Hunan Province, which were 0.49% and 1.99%, respectively.@*CONCLUSION@#Our study demonstrates the high complexity and diversity of thalassemia gene mutations in the Hunan population. The results should facilitate genetic counselling and the prevention of severe thalassemia in this region.


Assuntos
Humanos , Talassemia beta/genética , Talassemia alfa/genética , Hemoglobinopatias/genética , China/epidemiologia , Sequenciamento de Nucleotídeos em Larga Escala
3.
Artigo em Chinês | WPRIM | ID: wpr-1004400

RESUMO

【Objective】 To develop a new approach for the preparation of 0.7~0.8 hematocrit concentrated washed red blood cells(RBCs) for fetal anemia in utero transfusion and apply it in clinical. 【Methods】 The erythrocyte suspension and frozen stored erythrocytes within expiry date in Guangzhou Blood Center from March 2020 to February 2021 were taken to prepare concentrated washed RBCs. According to the derivation formula, corresponding weight of RBC preservation solution was added to obtain 0.7~0.8 hematocrit concentrated washed RBCs. Routine blood test data were statistically analyzed by single-sample t test, and P<0.05 was considered statistically significant. Qualified Rh-negative/ O-type 0.7~0.8 hematocrit concentrated RBCs within expiry date were used in clinical intrauterine blood transfusion. 【Results】 The hematocrit of concentrated washing RBCs prepared by the new approach could reach 0.7~0.8. The RBCs count (8.389 ±0.808)×1 012/ L and hemoglobin content(233.730±15.498)g/L were higher while the erythrocyte count (0.732±0.469)×109 /L and platelets count(26.000±26.276)×109/L were lower than the normal values of adults. The mean erythrocyte volume(fL), hemoglobin content(pg) and concentration(g/L )were 88.123±6.359, 30.004±2.809 and 339.980±11.865, respectively, which were normal values of adults. Fetal anemia was significantly improved and the prognosis was good after intrauterine blood transfusion. 【Conclusion】 The 0.7~0.8 hematocrit concentrated washed RBCs prepared by the new approach is consistent with the special blood requirements during fetal anaemia transfusion, meets the clinical treatment standards, and can be applied in clinical.

4.
Journal of Experimental Hematology ; (6): 2022-2027, 2020.
Artigo em Chinês | WPRIM | ID: wpr-880009

RESUMO

OBJECTIVE@#To investigate the clinical features of pregnant women with thalassemia in non endemic area, and to prevent the births of babies with intermedia or major thalassemia.@*METHODS@#Two hundred and thirty-five pregnants women with thalassemia diagnosed from March 2015 to April 2016 in our hospital were enrolled and retrospectively analysed. The blood routine and hemoglobin electrophoresis were performed respectively by XN-9000 automatic blood cell analyzer and HYDRASYS hemoglobin electrophoresis apparatus. The three commonest deletion of α-thalassemia, the three non-deletion α-thalassemia and 21 known β-thalassemia mutation were all detected by fluorescence melting curve analysis.@*RESULTS@#Among 235 pregnant women of thalassemia, the majority were β-thalassemia, which were followed by α-thalassemia and composite thalassemia. Most pregnant women showed a mild anemia, and suffered from microcytic anemia, but less suffered from iron deficiency anemia. The ratio of second-child pregnant women was increased, and the ratio was close to one third both in α-thalassemia and β-thalassemia patients, and 75% patients were composite thalassemia. HbF was found to be more in native pregnant women with β-thalassemia. Hemoglobin isomer was easy to found in the pregnant with α-thalassemia, and they were all non native. The genotype of --@*CONCLUSION@#More pregnant women with thalassemia are founded to be in non endemic area, and shows their own unique clinical features. It is certainly to detect thalassemia mutation in their spouse and their babies, to prevent the births of babies with intermedia or major thalassemia.


Assuntos
Criança , Feminino , Humanos , Lactente , Gravidez , Genótipo , Mutação , Gestantes , Estudos Retrospectivos , Talassemia alfa/genética , Talassemia beta/genética
5.
Artigo em Chinês | WPRIM | ID: wpr-843383

RESUMO

Objective:To explore the factors affecting the pregnancy outcome of frozen-thawed embryo transfer (FET) in endometriosis (EMT) patients in order to provide reference for the clinical selection of FET strategies. Methods:A total of 329 EMT patients who received blastocyst FET at the Reproductive Medicine Center, Department of Obstetrics & Gynecology, The 900th Hospital of the Joint Logistics Support Force, PLA, from Jan. 2015 to Dec. 2017 were analyzed retrospectively. The patients were divided into three groups according to endometrial preparation protocols, ages, and endometrial thickness on the day of progesterone conversion, respectively. By endometrial preparation protocols, the three groups included gonadotropin-releasing hormone agonist (GnRH-a) down-regulation+ hormone replacement therapy (HRT) group (GnRH-a+HRT group, A1 group, n=138), HRT group (B1 group, n=52), and natural cycle (NC) group (C1 group, n=139). By ages, the three groups included 35 years old group (C2 group, n=59). By endometrial thickness on the day of progesterone conversion, the three groups included 12 mm group (C3 group, n=37). The differences in pregnancy outcomes among EMT patients with blastocyst FET were compared under different grouping factors. Results:The endometrium of A1 group was significantly thicker than that of B1 group (P=0.041), the implantation rate and clinical pregnancy rate of B1 group were significantly higher than those of C1 group (P=0.000, P=0.003). Compared with A1 group, the implantation rate of B1 group was significantly higher (P=0.023), while it was significantly lower in group C1 (P=0.027). The abortion rate of A2 group was significantly higher than that of B2 group (P=0.007). Compared with A3 group, the implantation rate of B3 group was significantly higher (P=0.041), while it was significantly lower in C3 group (P=0.026). Conclusion:HRT endometrial preparation protocol for EMT patients with blastocyst FET can improve the implantation rate and clinical pregnancy rate, and reduce the abortion rate and ectopic pregnancy rate, which may be an economical and efficient endometrial preparation protocol in clinical.

6.
Artigo em Chinês | WPRIM | ID: wpr-756110

RESUMO

Objective To investigate the outcomes of fetuses with hemolytic anemia caused by red cell alloimmunization following intrauterine transfusion (IUT),and to analyze the influence of hydrops fetalis on IUT treatment.Methods A retrospective analysis was conducted on 70 fetuses,who were admitted to the Fetal Medicine Center,the First Affiliated Hospital of Sun Yat-sen University from January 2005 to May 2018,with hemolytic disease requiring IUT.Clinical data of the fetuses and the gravidas were collected and divided into hydrops group (17 cases) and non-hydrops group (53 cases) based on their conditions before IUT.Results of routine blood tests before and after the first IUT,gestational age at the first IUT,prognosis and outcomes of the fetuses were compared between two groups.t-test,rank-sum test,Chi-square test (or Fisher's exact test) and multivariant logistic regression analysis were used for data analysis.Results Totally,the 70 fetuses underwent 231 times of IUT.Compared with the non-hydrops group,the hydrops group had a significantly increased incidence of severe anemia [14/17 vs 47.2% (25/53),x2=6.458,P=0.011],but decreased hemoglobin [(38.5 ± 21.4) vs (68.7± 19.3) g/L,t=5.471,P<0.001] and hematocrit level [0.110 (0.044-0.246) vs 0.222 (0.077-0.299),Z=-4.390,P<0.001] before the first IUT.After the IUT,the survival rate of the fetuses in hydrops group was significantly lower than that of the non-hydrops group [11/15 vs 94.3% (50/53),P=0.038].There was no significant difference in gestational age at birth,birth weight,neonatal hemoglobin level at birth,the incidence of exchange transfusion,the number of blood transfusions required or the incidence of severe neonatal complication between the two groups (all P>0.05).Logistic regression analysis indicated that the fetal hydrops was an independent risk factor for fetal survival (OR=12.8,95%CI:1.2-136.4,P=0.035).Conclusions Hydrops fetalis might reduce the survival rate of fetal hemolytic disease after 1UT.

7.
Basic & Clinical Medicine ; (12): 787-792, 2018.
Artigo em Chinês | WPRIM | ID: wpr-693985

RESUMO

Objective To further investigate the role of PTB in regulating the alternative splicing of lncRNAs in a glioblastoma tumorigenesis,and analyze spliced lncRNAs. Methods Analyzing array data and screening a specific set of alternative spliced lncRNAs. Total RNA was isolated from PTB knockdown glioblastoma cells (U87MG) or glioblastoma and normal cell lines and tissue samples,and subjected to real-time PCR(RT-PCR) assays to detect the expression level of spliced transcripts. Alternatively spliced lncRNAs were identified as target genes that may be regulated by PTB protein by knocking down method. Nuclear and cytoplasmic isolation were performed on T98G cells to identify cellular location of lncRNA. Results Our results uncovered PTB which impact on the transcript level of several lncRNAs including linc00882. Interestingly,the lncRNA linc00882 significantly exhibited differential spli-cing patterns between two splice variants in the PTB-abundant glioblastoma cells. The alternative splicing transcripts were located in cell cytoplasm. Conclusions The results suggest that PTB may have an effect on the alternative spli-cing of linc00882 in glioma.

8.
Journal of Experimental Hematology ; (6): 1492-1496, 2018.
Artigo em Chinês | WPRIM | ID: wpr-689908

RESUMO

<p><b>OBJECTIVE</b>To investigate the effects of storage lesion in apheresis platelets on platelet apoptosis and the changes of aggregation function, and analyze the relationships between the apoptosis and aggregation function.</p><p><b>METHODS</b>Platelet samples were collected from 10 healthy donors with O blood group. Firstly, the effects of storage lesion in platelets on the platelet apoptosis were detected by flow cytometry. Then, using a multiplate analyzer, individual-donor Plt aggregation response to stimulation by the agonists ADP, Collagen, TRAP and ASPI was examined. Finally, the relationships between its apoptosis and aggregation function was analyzed by correlation regression analysis.</p><p><b>RESULTS</b>By flow cytometry it was found that with the prolonging of storage time, the apoptosis ratio of platelets significantly increased in a time-dependent manner, the apoptosis rates of platelets on 2nd, 5th and 8th day were (2.87±0.31)%, (11.08±1.54)% and (27.99±2.76)% respectively (P<0.01). Compared with Day 2 platelets, the d 5 platelets stored for 5 d significantly decrease the aggregation response to stimnlation of collagen, TRAP, and ASPI. Compared with platelets stored for 5 d, platelets stored for 8 d significantly decreased the aggregation response to stimnlation of collagen, TRAP and ASPI (P<0.01). However, when stimulated by ADP, the aggregation response was similar among Day 2, Day 5 and Day 8 platelets. The rate of the aggregation function was also declined significantly when stimulated by collagen, TRAP, and ASPI, but not ADP. Further regression analysis showed that the aggregation function of apheresis platelet negatively correlated with the apoptosis (r=-0.9497, r=-0.9527, r= -0.9707 and r= -0.9352 respectively), and the correlation is very strong.</p><p><b>CONCLUSION</b>With the prolonging of storage time, the apoptosis ratio in platelets significantly increased. The aggregation function also is declined significantly when stimulated by collagen, TRAP, and ASPI, but not ADP. The aggregation function of apheresis platelets closly correlats with the apoptosis.</p>

9.
Artigo em Chinês | WPRIM | ID: wpr-360168

RESUMO

<p><b>OBJECTIVE</b>To investigate the clinical features, treatment strategy and risk factors affecting the prognosis of elderly patients with non-small cell lung cancer (NSCLC) complicated by chronic obstructive pulmonary disease (COPD).</p><p><b>METHODS</b>We retrospectively analyzed the data of elderly patietns (>60 years) with newly diagnosed NSCLC complicated by COPD at the Geriatric Institution of General Hospital of PLA between January, 2000 and June, 2015. The clinical data collected included history of smoking, pulmonary function test results, initial treatments, TNM stage, chief complaints, comorbidities and laboratory tests. The Cox proportional hazards regression model was used to explore the prognostic factors in these patients.</p><p><b>RESULTS</b>A total of 200 NSCLC patients were reviewed, of which 107 (53.5%) patients had the co-morbidity of COPD as confirmed by spirometry using bronchodilator test. The median survival of the patients with NSCLC complicated by COPD was 45.8 months with 1-, 3-, 5-, and 10-year survival rates of 80.4%, 55.4%, 41.0% and 20.0%, respectively. Stratification analysis showed that patients with COPD Gold grades 1 and 2 had a significant longer median overall survival (51.7 and 43.1 months, respectively) than those with grade 3/4 (16.9 months; P=0.020 and 0.043, respectively). Univariate and multivariate analyses using Cox proportional hazards regression model showed that an older age, a higher Gold grade, advanced disease stage (stages III and IV), squamous cell carcinoma, nonsurgical initial treatment, coughing and an elevated serum CEA level were independent risk factors for shorter survival of the patients.</p><p><b>CONCLUSION</b>Multiple prognostic factors can affect the outcomes of elderly patients with NSCLC complicated by COPD, and a higher COPD Gold grade that fails to respond to treatment within 3 months is the independent risk factor for survival of the patients.</p>

10.
National Journal of Andrology ; (12): 157-163, 2017.
Artigo em Chinês | WPRIM | ID: wpr-812793

RESUMO

Objective@#To study the effects of muskolibanum combination on the proliferation and differentiation of prostate stem cells.@*METHODS@#We cultured prostate epithelial cells and urogenital sinus mesenchymal (UGSM) cells from 7-10 d old C57BL/6 mice and 16-18 d old pregnant C57BL/6 mice, transplanted the mixed suspension of the two types of cells under the kidney envelope of SCIDCB.17 male mice, and harvested the transplants 30 days later. We randomly divided the SCIDCB.17 mice into four groups to be treated intragastrically with musk (n = 8), olibanum (n = 8), musk+olibanum (n = 7), and normal saline (blank control, n = 8)) respectively, all for 14 days. Then we collected the kidney tissue for observation of the morphology of the glandular tubes and differentiation of different subsets of stem cells by HE staining and determination of the expressions and distribution of P63, CD133, CD117 and Sca1 by immunohistochemistry and Western blot.@*RESULTS@#A system was successfully established for the isolation and mixed culture of Sca1 Lin+ CD49f+ (LSC) cells of prostate stem cells and UGSM cells of the mouse embryonic prostate. Immunohistochemistry showed positive expressions of P63, CD133, Sca1, and CD117 in the prostatic acinar epithelia and proved the presence of prostatic acinar epithelial structure in the transplants. Compared with the blank control group, the expressions of CD133, Sca1 and CD117 were significantly increased in the musk, olibanum, and musk+olibanum groups (P< 0.05), higher in the musk+olibanum than in the musk or olibanum group (P< 0.05), and their protein expressions were even more elevated in the musk+olibanum group (P< 0.01), with statistically significant difference from the olibanum group (P< 0.05).@*CONCLUSIONS@#The combination of musk and olibanum can improve the proliferation and differentiation of prostate stem cells.


Assuntos
Animais , Feminino , Masculino , Camundongos , Gravidez , Diferenciação Celular , Proliferação de Células , Quimioterapia Combinada , Células Epiteliais , Biologia Celular , Ácidos Graxos Monoinsaturados , Farmacologia , Franquincenso , Farmacologia , Células-Tronco Mesenquimais , Biologia Celular , Camundongos Endogâmicos C57BL , Camundongos SCID , Próstata , Biologia Celular , Distribuição Aleatória , Receptores Proteína Tirosina Quinases , Receptores Colinérgicos , Células-Tronco , Biologia Celular
11.
Artigo em Inglês | WPRIM | ID: wpr-812127

RESUMO

The present study was designed to investigate the antimalarial activity of synthetic hepcidin and its effect on cytokine secretion in mice infected with Plasmodium berghei. The mice were infected with P. berghei intravenously and treated with hepcidin according to 4-day suppression test and Rane's test. The serum levels of interleukins (IL-1β, IL-2, IL-6, IL-10, IL-12p70, and IL-17A), tumor necrosis factor-α (TNF-α), and interferon-γ (IFN-γ) in the experimental mice were determined using a cytometric bead array (CBA) kit. The survival rate of the infected mice was also registered. Additionally, the serum iron, alanine transaminase (ALT), aspartate transaminase (AST), and total bilirubin (BIL) were detected to evaluate liver functions. Hepcidin exerted direct anti-malarial function in vivo and increased survival rate in a dose-dependent manner. In addition, the secretion of T helper cell type 1 (Th1), Th2, and Th17 cytokines, TNF-α, and IFN-γ were inhibited by hepcidin. In conclusion, our results demonstrated that synthetic hepcidin exerts in vivo antimalarial activity and possesses anti-inflammatory function, which provides a basis for future design of new derivatives with ideal anti-malarial activity.


Assuntos
Animais , Humanos , Masculino , Camundongos , Antimaláricos , Farmacologia , Modelos Animais de Doenças , Avaliação Pré-Clínica de Medicamentos , Hepcidinas , Farmacologia , Interleucina-10 , Alergia e Imunologia , Interleucina-17 , Alergia e Imunologia , Malária , Tratamento Farmacológico , Alergia e Imunologia , Mortalidade , Parasitologia , Plasmodium berghei , Genética , Metabolismo
12.
Artigo em Chinês | WPRIM | ID: wpr-247677

RESUMO

<p><b>OBJECTIVE</b>To analyze a fetus with abnormal sonographic features and correlated its genotype with phenotype.</p><p><b>METHODS</b>G-banding analysis, single nucleotide polymorphism array (SNP array) and fluorescence in situ hybridization (FISH) were performed for the fetus. Karyotyping and FISH were also carried out for the parents.</p><p><b>RESULTS</b>SNP array detected a 4.4 Mb deletion at 1q44 and a 10.4 Mb duplication at 17q24.3q25.3 in the fetus. Based on the results of SNP array and FISH analysis, the father was diagnosed with a cryptic t(1;17)(q44;q24.3) translocation. The fetus has inherited a der(1)t(1;17)(q44;q24.3) from its father.</p><p><b>CONCLUSION</b>The 1q44 deletion and 17q24.3q25.3 duplication may have contributed to the abnormal sonographic features presented by the fetus.</p>


Assuntos
Adulto , Feminino , Humanos , Gravidez , Deleção Cromossômica , Cromossomos Humanos Par 1 , Cromossomos Humanos Par 17 , Hibridização in Situ Fluorescente , Polimorfismo de Nucleotídeo Único , Translocação Genética , Trissomia , Genética , Ultrassonografia Pré-Natal
13.
Artigo em Chinês | WPRIM | ID: wpr-247704

RESUMO

<p><b>OBJECTIVE</b>To analyze the correlation between atypical neurofibromatosis type 1(NF1) microdeletion and fetal phenotype.</p><p><b>METHODS</b>Fetal blood sampling was carried out for a woman bearing a fetus with talipes equinovarus. G-banded karyotyping and single nucleotide polymorphism array (SNP-array) were performed on the fetal blood sample. Fluorescence in situ hybridization (FISH) was used to confirm the result of SNP array analysis. FISH assay was also carried out on peripheral blood specimens from the parents to ascertain the origin of mutation.</p><p><b>RESULTS</b>The karyotype of fetus was found to be 46, XY by G-banding analysis. However, a 3.132 Mb microdeletion was detected in chromosome region 17q11.2 by SNP array, which overlaped with the region of NF1 microdeletion syndrome. Analyzing of the specimens from the fetus and its parents with FISH has confirmed it to be a de novo deletion.</p><p><b>CONCLUSION</b>Talipes equinovarus may be an abnormal sonographic feature of fetus with atypical NF1 microdeletion which can be accurately diagnosed with SNP array.</p>


Assuntos
Adulto , Feminino , Humanos , Masculino , Gravidez , Bandeamento Cromossômico , Deleção Cromossômica , Cromossomos Humanos Par 17 , Genética , Anormalidades Craniofaciais , Diagnóstico , Embriologia , Genética , Deleção de Genes , Deficiência Intelectual , Diagnóstico , Embriologia , Genética , Cariotipagem , Deficiências da Aprendizagem , Diagnóstico , Genética , Neurofibromatoses , Diagnóstico , Embriologia , Genética , Neurofibromatose 1 , Diagnóstico , Embriologia , Genética , Diagnóstico Pré-Natal
14.
Artigo em Inglês | WPRIM | ID: wpr-238416

RESUMO

Previous investigations have shown that changes in total prostate volume (TPV) are highly variable among aging men, and a considerable proportion of aging men have a stable or decreasing prostate size. Although there is an abundance of literature describing prostatic enlargement in association with benign prostatic hyperplasia, less is known about the appropriate age cut-off points for TPV growth rate. In this community-based cohort study, TPV was examined once a year in men who had consecutive health checkup, during a follow-up of 4 years. A total of 5058 men (age 18-92 years old) were included. We applied multiple regression analyses to estimate the correlation between TPV growth rate and age. Overall, 3232 (63.9%) men had prostate growth, and 1826 (36.1%) had a stable or decreased TPV during the study period. The TPV growth rate was correlated negatively with baseline TPV (r=-0.32, P<0.001). Among 2620 men with baseline TPV <15 cm, the TPV growth rate increased with age (β=0.98, 95% CI: 0.77%-1.18%) only up to 53 years old. Among 2188 men with baseline TPV of 15-33.6 cm, the TPV growth rate increased with age (β=0.84, 95% CI, 0.66%-1.01%) only up to 61 years old after adjusting for factors of hypertension, obesity, baseline TPV, diabetes mellitus and dyslipidemia. In this longitudinal study, the TPV growth rate increased negatively with baseline TPV, only extending to a certain age and not beyond. Further research is needed to identify the mechanism underlying such differences in prostate growth.


Assuntos
Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Humanos , Masculino , Pessoa de Meia-Idade , China , Hipertensão , Epidemiologia , Obesidade , Epidemiologia , Tamanho do Órgão , Próstata , Patologia , Hiperplasia Prostática , Epidemiologia , Características de Residência
15.
Journal of Experimental Hematology ; (6): 1116-1120, 2016.
Artigo em Chinês | WPRIM | ID: wpr-246806

RESUMO

<p><b>OBJECTIVE</b>To investigate the hematologic characteristics and gene diagnosis of patients with Thailand deleted α-thalassemia 1, so as to provide the information for clinical genetic counseling.</p><p><b>METHODS</b>The clinical data of 32 patients with Thailand delated α-thalassemia 1 were analyzed retrospectively; the hematologic characteristics and gene diagnosis of Thailand deleted type were investigated by using routine hematologic examination, genetic detection of common thalassemia and Thailand deleted α-thalassemia 1.</p><p><b>RESULTS</b>Among 32 cases, the Thailand deleted α-thalassemia 1 heterozygote was found in 29 cases, the Thailand deleted α-thalassemia 1 and α(3.7) gene deletion double heterozygote were found in 1 case, the Thailand deleted α-thalassemia 1 with β-thalassemia (1 case with codons 41-42 mutation heterozygous, 1 case with CD17 mutation heterozygous) was found in 2 cases by detection. The MCV and MCH levels were decreased in all cases of Thailand deleted thalassemia 1, there were significant differences in RBC, MCV, MCH (P<0.05) between normal control and Thailand deletion α-thalassemia 1 group; there were also significant differences in MCHC (P<0.05) between Southeast asia thalassemia and Thailand deleted α-thalassemia 1 group.</p><p><b>CONCLUSION</b>There are no significant differences in hematological parameters except MCHC between Southeast asia thalassemia and Thailand deleted α-thalassemia 1 group. moreover the Thailand deleted α-thalassemia 1 in a certain proportion exists in area with high incidence of thalassemia, therefor the clinicians should pay more attention to the screen and diagnosis of Thailand delated α-thalassemia and can exactly diagnose the Thailand delected α-thalassemia 1 on the basis of comprehensive analysis of conventional and Thailand delected α-thalassemia 1 detection results, clinical presentation, hematologic parameters and ultrasonic examination, so as to avoid the birth of child with severe and intermidiate type α-thalassemia caused by Thailand deleted α-thalassemia 1.</p>


Assuntos
Humanos , Deleção de Genes , Heterozigoto , Mutação , Fenótipo , Tailândia , Talassemia alfa , Talassemia beta
16.
National Journal of Andrology ; (12): 256-262, 2015.
Artigo em Chinês | WPRIM | ID: wpr-319509

RESUMO

<p><b>OBJECTIVE</b>To study the effects of drug plasma of musk and olibanum (DP-M&O) on the release of inflammatory cytokines from monocytes and the expressions of the proteins associated with inflammation of prostatic or endothelial cells induced by prostate antigen (PAg) stimulation.</p><p><b>METHODS</b>We prepared DP-M&O using SD rats and monocytes and PAgs using BALB/c mice. We pre-treated the monocytes with DP-M&O at the gradient concentrations of 0, 2.5, 5, 10, and 20% for 1 hour, activated them with PAgs, and then cultured them for 96 hours, followed by detection of the release of inflammatory cytokines. We co-cultured the prostate RWPE-1 cells with the endothelial EA. hy926 cells, pre-treated them with the same gradient concentrations of DP-M&O as above for 1 hour, activated with PAgs, and cultured for 96 hours. Then we determined the expression levels of the proteins associated with inflammation of RWPE-1 and EA. hy926 cells by Western blot.</p><p><b>RESULTS</b>DP-M&O decreased the levels of TNF-alpha, IL-1beta, IL-6, and IL-8 and increased that of IL-10 in a concentration-dependent manner. Significant differences were found between the 20% P-M&O and PAg groups in the release of the inflammatory cytokines TNF-alpha (70.8 +/- 22.3 vs. 277.1 +/- 65.5, P < 0.01) , IL-113 (277.5 +/- 22.6 vs. 630.4 +/- 89.7, P <0.01), IL-6 (232.7 +/- 62.7 vs. 994.2 vs. 182.3, P < 0.01), IL-8 (227.3 +/- 79.2 vs. 769.3 +/- 284.1, P < 0.01), and IL-10 (640.2 +/- 201.2 vs. 271.1 +/- 55.8, P < 0.01). Compared with the PAg group, the 10 and 20% P-M&O groups showed remarkable decreases in the protein expression of MCP-1/CCL2 in the RWPE-1 cells (1.12 +/- 0.34 vs. 0.56 +/- 0.11 and 0.34 +/- 0.08) and that of VCAM-1 in the EA. hy926 cells (0.94 +/- 0.22 vs. 0.52 +/- 0.17 and 0.38 +/- 0.12) (P < 0.05 or 0.01).</p><p><b>CONCLUSION</b>The compatibility of musk and olibanum can decrease the expression of MCP-1/CCL2 in prostate cells and VCAM-1 in vascular endothelial cells, blocking the adhesion of leucocytes and suppressing inflammatory response.</p>


Assuntos
Animais , Masculino , Camundongos , Ratos , Western Blotting , Citocinas , Metabolismo , Células Endoteliais , Metabolismo , Ácidos Graxos Monoinsaturados , Farmacologia , Franquincenso , Farmacologia , Inflamação , Metabolismo , Interleucina-10 , Metabolismo , Interleucina-1beta , Metabolismo , Interleucina-6 , Metabolismo , Interleucina-8 , Camundongos Endogâmicos BALB C , Monócitos , Metabolismo , Próstata , Biologia Celular , Ratos Sprague-Dawley , Fator de Necrose Tumoral alfa , Metabolismo , Molécula 1 de Adesão de Célula Vascular , Metabolismo
17.
Artigo em Chinês | WPRIM | ID: wpr-255004

RESUMO

<p><b>OBJECTIVE</b>To investigate the effect of different pressure oxygen pre-breathing in preventing decompression sickness of rats.</p><p><b>METHODS</b>Forty male SD rats were randomly divided into 4 groups: decompression sickness (DCS) group and three oxygen pre-breathing groups with 1 ATA, 2 ATA and 3 ATA pressure respectively. The rats of DCS group were placed in the hyperbaric chamber and the chamber was compressed evenly within 3 minutes to depths of 7 absolute atmosphere(ATA) and held at the designated depth for 60 min, then decompressed (3 min) at constant speed to the surface pressure. After that, the rats were taken out for further detection. While the rats of oxygen pretreatment groups pre-breathed different pressure oxygen for 20 min before entering into chamber. The mortality and behavioral of rats were observed with 30 min post decompression. The dry/wet ratio of the lung, protein levels in the bronchoalveolar lavage fluid (BALF), and the inflammatory cytokine tumor necrosis factor (TNF-alpha) expression were also tested.</p><p><b>RESULTS</b>Compared with that of the DCS group, the mortality and morbidity of oxygen pre-breathe groups didn't change obviously. But the total BALF protein level and the inflammatory cytokine TNF-alpha expression of 1 ATA oxygen pre-breathe group were obviously decreased, while the dry/wet ratio of lung as obviously increased instead (P < 0.05).</p><p><b>CONCLUSION</b>Although preoxygenation can' t obviously change the mortality and mobidity of rats, normal pressure oxygen pre-breathing can mitigate the protein infiltration in BALF and the expression of inflammatory cytokine in lung tissue.</p>


Assuntos
Animais , Ratos , Líquido da Lavagem Broncoalveolar , Química , Doença da Descompressão , Mergulho , Pulmão , Patologia , Oxigênio , Fisiologia , Pressão , Ratos Sprague-Dawley , Fator de Necrose Tumoral alfa , Metabolismo
18.
Artigo em Chinês | WPRIM | ID: wpr-287988

RESUMO

<p><b>OBJECTIVE</b>To investigate the relationship between fetal lateral ventriculomegaly and chromosomal microarray analysis (CMA) abnormalities.</p><p><b>METHODS</b>Fifty fetuses with lateral ventriculomegaly detected by ultrasound and a normal karyotype were included. Forty four fetuses were classified as mild ventriculomegaly (MVM), in which the lateral ventricular atrium was 10-15 mm. Six had severe ventriculomegaly (SVM), with the lateral ventricularatrium being ≥ 15 mm. The fetuses were also divided into isolated (n= 21) and non-isolated groups (n= 29) based on whether they are associated with other anomalies.</p><p><b>RESULTS</b>Thirteen (26%) of the fetuses were found to be abnormal by CMA. For the 44 cases with MVM, 9 (20.9% ) were found to be abnormal, while for the 6 cases with SMV, 4 (66.7%) were found to be abnormal (P>0.05). CMA abnormalities were found in 2 (9.5%) of the 21 fetuses with isolated ventriculomegaly group and 11 (37.9%) of the 29 fetuses with non-isolated ventriculomegaly group (P<0.05).</p><p><b>CONCLUSION</b>Chromosome microdeletions and microduplications are the most common abnormalities found in fetal lateral ventriculomegaly. When ventriculomegaly is associated with other anomalies, the incidence of CMA abnormally is much higher. Prenatal diagnosis is necessary for fetuses with lateral ventriculomegaly.</p>


Assuntos
Adulto , Feminino , Humanos , Gravidez , Adulto Jovem , Aberrações Cromossômicas , Deleção Cromossômica , Duplicação Cromossômica , Idade Gestacional , Hidrocefalia , Diagnóstico , Diagnóstico por Imagem , Genética , Ventrículos Laterais , Anormalidades Congênitas , Diagnóstico por Imagem , Metabolismo , Análise em Microsséries , Métodos , Reprodutibilidade dos Testes , Sensibilidade e Especificidade , Ultrassonografia Pré-Natal , Métodos
19.
Journal of Preventive Medicine ; (12): 249-253, 2015.
Artigo em Chinês | WPRIM | ID: wpr-792386

RESUMO

Objective To explore the regional parameters of triple screening model of Down syndrome in the second trimester in Jinhua City.Methods A total of 20 232 second trimester pregnant women with single fetus (gestational age at 15 -20 +6 weeks)was enrolled,and their serum samples were determined by American Perkin Elmer company Auto DELFIA automatic time -resolved fluorescence immunoassay analyzer for Down syndrome screening with triple markers, namely AFP,free β-hCG and uE3 .The risks of Down syndrome were evaluated by Lifecycle 3.2 software.And the risks of Down syndrome were re -calculated by local statistical median equations.Pregnant women were suggested to receive amniotic fluid fetal karyotype analysis if the risk of Down syndrome were equal or above 1 /270.Results Local median marker levels were significantly higher than the software built -in median levels (P <0.01).Both true -positive detection rates (sensitivity)were 87.50%.The false positive rate of local median equations was 4.24%,while the built -in median equations was 4.74%.Conclusion There are significant differences on the race and region by using the LifeCycle 3.2 median equations.The local equations may lower the false positive rate.

20.
China Modern Doctor ; (36): 102-105, 2015.
Artigo em Chinês | WPRIM | ID: wpr-1037437

RESUMO

[Abstratct] Objective To investigate the preventive effect of atomization inhalation with mixture of baikal skullcap root and light yellow sophora root for proventing invasive fungal infection on lower respiratory tract infection after chemotherapy. Methods A total of 60 cases of patients with lower respiratory tract infections after chemotherapy were selected and randomized into control groups and treatment groups, there were 30 cases in every group, anti-infection was taken in two groups according to drug sensitivity test,atomamdation inhalation with mixture of baikal skullcap root and light yellow sophora root was taken in treatment groups in addition, clinical effect was contrasted, incidence rate and time of fungal infection were contrasted between control group and treatment group,and index of blood gas analysis was contrasted between control group and treatment group after two weeks. Results Clinical efficiency was 86.67% in treatment group and was 70.00% in control group,clinical efficiency was higher in treatment groups than in control group,incidence rate of fungal infection was 6.67% in treatment group and was 23.33% in control group,incidence rate of fungal infection was lower in treatment group than in control goup,time of fungal infection was (11.58±1.31)days in treatment group and was (9.41±1.10)days in control group,time of fungal infect was later in treatment group than that in control group. There were no significant differences of the levels of pH,SaO2,PaCO2 and PaO2 between the two groups before treatment, the levels of pH,SaO2,and PaO2 were higher and PaCO2 was lower in treatment group than that in control goup after treatment. Conclusion Atomization inhalation with mixture of baikal skullcap root and light yellow sophora root could improve clinical curative effect of lower respiratory tract infection after chemotherapy,and im-prove respiratory function,provent invasive fungal infections and has good clinical effect.

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