Analysis of ANK1 gene mutation in a family with hereditary spherocytosis type Ⅰ / 中华医学遗传学杂志

Objective@#To detect the disease-causing mutation in a family with hereditary spherocytosis type Ⅰ.@*Methods@#Genomic DNA was extracted from peripheral blood samples of the proband and his relatives. Next-generation sequencing was used to detect the mutations of relevant genes. Suspected pathogenic mutation was verified by Sanger sequencing.@*Results@#The proband was found to harbor a novel frameshifting mutation in the coding region of ANK1 gene, which has resulted in abnormal structure or function of the protein. The mutation was confirmed by Sanger sequencing, with both his father and brother found to have carried the same mutation.@*Conclusion@#The c. 247delG mutation of proband hereditary spherocytosis typeⅠin this family due to mutation of the ANK1gene.

Analysis of ANK1 gene mutation in a family with hereditary spherocytosis type Ⅰ / 中华医学遗传学杂志

OBJECTIVE@#To detect the disease-causing mutation in a family with hereditary spherocytosis type Ⅰ.@*METHODS@#Genomic DNA was extracted from peripheral blood samples of the proband and his relatives. Next-generation sequencing was used to detect the mutations of relevant genes. Suspected pathogenic mutation was verified by Sanger sequencing.@*RESULTS@#The proband was found to harbor a novel frameshifting mutation in the coding region of ANK1 gene, which has resulted in abnormal structure or function of the protein. The mutation was confirmed by Sanger sequencing, with both his father and brother found to have carried the same mutation.@*CONCLUSION@#The c.247delG mutation of proband hereditary spherocytosis typeⅠin this family due to mutation of the ANK1 gene．.

Study on the effect of cyclosporine combined with eleven acid testosterone on serumT helper cells in patients with chronic aplastic anemia / 国际检验医学杂志

Objective To study the effect of cyclosporine combined with eleven acid testosterone on serum T helper cells in patients with chronic aplastic anemia.Methods A total of 86 patients with chronic aplastic anemia received treatment in our hospital were collected as the research objects,and divided into experimental group and control group,patients in the experimental group received eleven acid testosterone combined with cyclosporine therapy,patients in the control group received eleven acid testosterone therapy.Blood routine indexes,Th1,Th2,Th17 and Treg cells contents of the two groups before and after treatment were compared.Results Before treatment,hemoglobin content,leukocyte count,platelet count,peripheral blood Th1,Th2,Th17 and Treg cells contents of the two groups had no significant difference(P>0.05).After two courses of treatment,hemoglobin content,leukocyte count,platelet count of the experimental group were significantly higher than those of the control group.After two courses and four courses of treatment,peripheral blood Th1 and Th17 contents of experimental group were significantly lower than those of the control group,Th2 and Treg contents were significantly higher than those of the control group.Conclusion Eleven acid testosterone combined with cyclosporine treatment could be more effective to stimulate hematopoiesis,regulate immune function and T lymphocyte subsets content,it′s an effective method for the treatment of chronic aplastic anemia.

Effects of Alprostadil on the Expression of VEGF and eNOS in Human Pulmonary Microvascular Endothe-lial Cells with Hypoxia-induced Injury / 中国药房

OBJECTIVE:To study the effects of alprostadil on the expression of vascular endothelial growth factor (VEGF) and endothelial nitric oxide synthase (eNOS) in human pulmonary microvascular endothelial cells (HPMECs) with hypoxia-in-duced injury. METHODS:HPMECs were divided into group A(normal cultural environment),group B(3%O2),group C(3%O2+15 μg/L alprostadil)and group D(3%O2+45 μg/L alprostadil)for 24 h culture. Cell morphology was observed;MTT method was conducted to detect cell activity(recorded by absorbance);flow cytometry was adopted to detect apoptosis rate;Western blot was used to detect relative expressions of VEGF and eNOS in cells. RESULTS:Cell density in group A and D was relatively high, that in group B and C was low. Compared with group A,cell activities decreased and apoptosis rates increased in group B,C and D,expressions of VEGF and eNOS enhanced,eNOS/VEGF decreased (P<0.05). Compared with group B,cell activities in-creased in group C and D,VEGF expression decreased (P<0.05);apoptosis rate in group D decreased,eNOS expression de-creased and eNOS/VEGF increased. Compared with group C,cell apoptosis rate was decreased in group D,VEGF expression de-creased and eNOS/VEGF increased(P<0.05). CONCLUSIONS:Alprostadil maybe play effect on HPMECs with hypoxia-induced injury by up-regulating the expression level of eNOS/VEGF.

Analysis and prenatal diagnosis of PKLR gene mutations in a family with pyruvate kinase deficiency / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To evaluate the feasibility of genetic and prenatal diagnosis for a family affected with pyruvate kinase deficiency (PKD).</p><p><b>METHODS</b>Targeted sequence capture and high-throughput sequencing technology was used to detect the exons and exon-intron boundaries of the PKLR gene in a clinically suspected PKD patient. Meanwhile, the genotype of the pedigree was validated by Sanger sequencing. Prenatal genetic diagnosis was performed by amniotic fluid sampling after genotype of the mother of the proband was determined.</p><p><b>RESULTS</b>The proband was found to harbor double heterozygous mutations, c.661G>A (Asp221Asn) and c.1528C>T (Arg510Ter), which resulted in amino acid substitution Asp221Asn and Arg510Ter. Such mutations were confirmed by Sanger sequencing. The mother and father of the proband were detected to have respectively carried c.1528C>T (Arg510Ter) and c.661G>A (Asp221Asn) mutation. The fetus was found to have carried the same mutations as the proband. Following selected abortion, analysis of fetal tissue was consistent with the result of prenatal diagnosis.</p><p><b>CONCLUSION</b>The compound mutations of c.661G>A and c.1528C>T of PKLR gene probably underlie the PKD in the family. Prenatal diagnosis of the mutations analysis can facilitate detection of affected fetus in time.</p>

A discussion on the mode of multi hospitals platform / 重庆医学

Objective To discuss the informatization of multi hospitals. Methods Considering about the current situation of in‐formation construction to the First Affiliated Hospital of Chongqing Medical University, a set of solution was put forward based on the all in one card together with the two level information platform. Results Initial trials proved the feasibility of the solution. Con‐clusion The informatization of the multi hospitals contributes a lot to the source sharing between the regional hospitals, the im‐provement of hospital management and a better medical service.

Research and design of bank and hospital one card system in one hospital of Chongqing / 重庆医学

Objective To design a bank and hospital one card system to optimize outpatient service process and improve service level of outpatient .Methods On the basis of the existing outpatient service process ,we combine transfer function and payment function of bank card ,thus a bank and hospital one card system was designed to utilize the advantage of City Payment Card .Re‐sults The waiting time of outpatients was shortened through the self service of bank and hospital one card system ,the pressure of outpatient service windows was reduced .Conclusion Bank and hospital one card system can optimize outpatient service process , which can improve hospital efficiency and patient satisfaction .

Design and application of the telemedicine system / 重庆医学

Objective In response to the requirements of the new nation health care reform for the first diagnosis sinking .To in‐vestigate hospital as the center ,radiation surrounding ,we build the telemedicine system .Methods We analyzed the requirement ,de‐sign the architecture of the system through the way of TOGAF .Results The telemedicine system including telemedicine ,remote diagnosis and distance education was built .Conclusion The design ,establishment and application of the telemedicine system has an important influence and meaning .

Research on medical data mining and its applications / 生物医学工程学杂志

With the development of computer technology, medical data has developed from traditional paper pattern into electronic mode, which could effectively promote the medical development. This paper at first presents the status and characteristics of medical data mining. Then, it discusses the critical method of medical data mining in classification, clustering and prediction, respectively. The paper focuses on the application and assessment of five algorithms which are designed for medical data mining, including decision tree, cluster analysis, association rule, intelligent algorithm and the mix algorithm. Finally, this paper outlooks the data mining application in medical domain.