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OBJECTIVE@#To detect potential mutations of the PKHD1 gene in two pedigrees affected with infantile polycystic kidney disease.@*METHODS@#Clinical data and peripheral venous blood samples were collected from the probands and their parents as well as fetal amniotic fluid cells. Genome DNA was extracted from the peripheral blood samples and amniotic fluid cells. Exons 32 and 61 of the PKHD1 gene were amplified with PCR and subjected to direct sequencing.@*RESULTS@#The proband of pedigree 1 was found to carry c.4274T>G (p.Leu1425Arg) mutation in exon 32 and c.10445G>C (p.Arg3482Pro) mutation in exon 61 of the PKHD1 gene, which were inherited from her father and mother, respectively. The fetus has carried the c.4274T>G (p.Leu1425Arg) mutation. In pedigree 2, the wife and her husband had respectively carried a heterozygous c.5979_5981delTGG mutation and a c.9455delA mutation of the PKHD1 gene. No chromosomal aberration was found in the umbilical blood sample, but the genetic testing of their fetus was failed. Based on software prediction, all of the 4 mutations were predicted to be pathogenic.@*CONCLUSION@#PKHD1 c.4274T>G (p.Leu1425Arg), c.10445G>C (p.Arg3482Pro), c.5979_5981delTGG and c.9455delA were likely to be pathogenic mutations. The results have facilitated genetic counseling and prenatal diagnosis for the two pedigrees.
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Female , Humans , Pregnancy , DNA Mutational Analysis , Genetic Counseling , Mutation , Pedigree , Polycystic Kidney Diseases , Diagnosis , Genetics , Prenatal Diagnosis , Receptors, Cell SurfaceABSTRACT
Objective To investigate the effect of small annular electrode assisted electrosurgical excision of cervical canal mucosa on cervical loop electrosurgical excision procedure ( LEEP ) in patients with cervical erosion and endocervicitis. Methods From March 2016 to March 2017,one hundred and twenty cases with cervical erosion treated in the Third People′s Hospital of Shenzhen were selected and were randomly divided into the control group and the observation group,with 60 cases in each group. The patients in the control group were treated with conical or LEEP while patients in the observation group were treated by putting the small ring electrode into the cervical canal under 0. 4 ～ 0. 6 cm longitudinal resection to treat cervical inflammatory lesions based on the treatment of the control group. The postoperative and postoperative recovery,postoperative efficacy and complications of the two groups were compared. Results There was no statistical significance between the observation group and the control group in the time of operation,the amount of bleeding during operation,and the time of vaginal drainage after operation ( P>0. 05 ) . The curative rate of the observation group and the control group were 75. 0％(45/60) and 51. 7％(31/60) at 1 month after operation respectively,and they were 95. 0％( 57/60) and 70. 0％ ( 42/60) at 2 months after operation. The difference was statistically significant ( P<0. 05) . The incidence of eversion of cervical columnar epithelium in the observation group and the control group were 5. 0％ ( 3/60) and 18. 3％ ( 11/60) at 1 month after the operation,and the difference was statistically significant (χ2=12. 4,P<0. 05) . The incidence of eversion of cervical columnar epithelium in the observation group and the control group were 3. 3％ ( 2/60) and 13. 3％ ( 8/60) at 2 months after the operation,and the difference was statistically significant (χ2=9. 51,P<0. 05) . No cervical laxity and stenosis occurred in both groups at 6 months after the operation. Conclusion The LEEP modified by small annular electrode can effectively improve the curative rate of cervical erosion in patients with endocervicitis, reduce the incidence of cervical columnar eversion,and does not prolong the operation time and does not increase the risk of bleeding or affect postoperative uterine function,which has good clinical value.
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Objective:To investigate the relationship between the Notch signaling pathway and expression of vascular relevant factors in rabbit deep Ⅱ degree burn model.Methods:A total of 120 New Zealand white rabbits were randomly divided into a block group,a model group,and a control group,The block group was injected 2 mg/kg γ-secretase inhibitor (GSI) once a day at 1 d before the model establishment,and 1-14 d after the deep Ⅱ degree burns model establishment.The model group were injected physiological saline at the same time.The control group was only injected with the same amount of saline.The expressions of vascular endothelial growth factor (VEGF),vascular endothelial growth factor receptor 2 (VEGFR-2),matrix metalloprotein 2 (MMP-2) and matrix metalloprotein 9 (MMP-9) were detected by immunohistochemistry.Results:The expressions of VEGF and VEGFR-2 in the model group and the block group were significantly increased within 21 days after modeling,while decreased after 21 days;the expressions of MMP-2 and MMP-9 were decreased within 21 days after modeling,while increased after 21 days,with significant differences compared with the control group (P＜0.05).The expressions of VEGF and VEGFR-2 in the model group were higher than that in the block group,and the expressions of MMP-2 and MMP-9 were lower than those in the block group (P＜0.05).The expression of VEGFR-2 was positively correlated with VEGF,while MMP-2 and MMP-9 were negatively correlated with VEGF within 21 days after modeling.Conclusion:In the rabbit deep Ⅱ degree burn model,the Notch signaling pathway was blocked to attenuate the expressions of VEGF and VEGFR-2,and to up-regulate the expressions of MMP-2 and MMP-9.
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Objective To explore the clinical efficacy and safety of bevacizumab combined with docetaxel in treatment of advanced cervix cancer.Methods Seventy-five patients with advanced cervix cancer accepted in our hospital from April 2011 to April 2016 were selected and divided into observation group with 43 cases and control group with 32 cases according to different treatment methods.Patients in control group were given docetaxel,and patients in observation group were combined with bevacizumab on the basis of control group.The clinical efficacy,adverse reactions,life quality and pharmacoeconomics of two groups were observed and compared.Results The total efficacy and clinical control rate of observation group were all higher than control group with statistically significance (P ＜ 0.05).The adverse reaction rate of two groups had no difference.Total efficacy of life quality improvement was 83.72％,which was obviously higher than control group 62.50％ with statistically significance (P ＜ 0.05).The average cost of observation group was (83 ± 10) thousands,of control group was (18± 6) thousands.The cost of observation group was obviously higher than control group with statistically significance (P ＜ 0.05).Conclusion Using bevacizumab combined with docetaxel in treatment of advanced cervix cancer has better effect clinical but costs much than docetaxel.We should set on treatment according to patients' own situation.
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Objective To explore the influence of knowing about disease on hope level,anxiety and depression of patients with gastric cancer.Methods 120 gastric cancer patients were examined by Herth Hope Index,Hamilton Anxiety Scale(HAMA) and Hamilton Depression Scale(HAMD).Results Gastric cancer patients who did not know about their diseases accounted for 67.5％.Scores of hope level,anxiety and depression of patients were not obviously different between knowing and not knowing about disease groups.The relevant factors that affected the level of hope in gastric cancer patients were anxiety and family income.Conclusions The knowing or not knowing about disease are not the influencing factors that affected the hope level in gastric cancer patients as well as anxiety and depression.The relevant factors that affected the level of hope in gastric cancer patients are anxiety and family income.Patients can benefit from more factual information about the diagnosis.