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OBJECTIVE@#To explore the genetic basis of a child with holoprosencephaly.@*METHODS@#Genomic DNA of the child was extracted and subjected to whole exome sequencing. Suspected variant was verified by Sanger sequencing of her family members.@*RESULTS@#Cranial MRI suggested lobulated holoprosencephaly with partial absence of corpus callosum. Genetic testing revealed that she has carried a heterozygous c.517C>G (p.His173Asp) variant of the SIX3 gene, for which both of her parents were of wild type. Based on the American College of Medical Genetics and Genomics guidelines, the c.517C>G variant of SIX3 gene was predicted to be pathogenic (PS2+PM1+PM2+PM5+PP3).@*CONCLUSION@#The SIX3 gene c.517C>G variant probably underlay the multiple malformations in this child. Above finding has enabled her definite diagnosis.
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Criança , Feminino , Humanos , Família , Heterozigoto , Holoprosencefalia/genética , Mutação , Sequenciamento do ExomaRESUMO
Objective To explore the impact of preoperative neoadjuvant chemotherapy on the expressions of multi-drug resistance genes in patients with cervical cancer and its relationship with the effect of chemotherapy. Methods Ninety-eight cervical cancer patients with TP regimen selected to perform preoperative chemotherapy were enrolled in the Affiliated Hospital of Guiyang Medical College between January 2010 and June 2014. Immunohistochemisty (En vision method) was used to determine the expressions of P-gP, GST-π and TopoII of the same patients before and after neoadjuvant chemotherapy and explore the relationship with the effect of chemotherapy. Results The positive expression rates of P-gp and GST-π were 71.43% and 64.29% before chemotherapy and 80.61%and 74.49%after chemotherapy, respectively. The former two had significant differences (P 0.05). Before neoadjuvant chemotherapy, the positive expression of GST-π in the ineffective group was statistically higher than that in the effective group (P 0.05). There was significant correlation in the expressions of P-gp, GST-π and TopoⅡ(P < 0.05) before and after neoadjuvant chemotherapy. Conclusions The expression of P-gp, GST-πand TopoⅡgene may not be affected by the clinical and pathological features of cervical cancer, but may change expressions of multi-drug resistance genes in cervical cancer by neoadjuvant chemotherapy. Monitoring their expression has a guiding significance for drug selection, prognostic judgment, and the following treatment regimen decision. The GST-π, expression level can be used as a biological parameter to predict the effect of TP regimen neoadjuvant chemotherapy.
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Objective To investigate the changes of CA125 level with intra-abdominal tumor(epithelial ovarian cancer ,fallopian tube cancer and peritoneal cancer ) before and after chemotherapy serum and their effect on the prognosis of patients and their the clinical predictive value .Methods 174 cases(107 cases of epithelial ovarian cancer ,35 cases of fallopian tube cancer ,and 32 cases of peritoneal cancer) with peritoneal cancer patients were selected from January 2007 to January 2008 .The percentage decrease of ser-um CA125 were calculated after 3 courses of chemotherapy and CA125 decreased level of sensitivity with chemotherapy were ana-lyzed .The different levels of CA125 of median survival time and median survival time were compared .Results After chemothera-py ,CA125 decreased ≥ 75% in 42 cases ,decreased from 51% to 75% in 62 cases ,decreased from 25% to 50% in 32 cases ,and de-creased less than 25% in 38 cases .In CA125 decreased ≥ 75% group ,the chemotherapy effects was better than the other groups (P<0 .05) .Univariate analysis showed that the decrease proportion of CA 125 was positively correlated with chemotherapy effect (r=0 .396 ,P=0 .000) .Using the Kaplan-Meier method ,the patient's survival rate and median survival time were caculated and it showed that the 5 years survival and median survival time were significantly better in group CA 125 decline ≥ 75% than the other groups(P<0 .05) .Univariate analysis shows that the CA125 decline proportion of patients and long term efficacy was positively correlated(r=0 .412 ,P=0 .000) .The COX risk model analysis showed that FIGO stage ,CA125 level and the effect of chemothera-py were independent prognostic risk factors .Conclusion The level of CA125 is the independent risk factor of epithelial ovarian cancer ,fallopian tube cancer and peritoneal cancer prognosis .CA125 decline proportion could be used to know the effect of chemo-therapy and long term treatment ,and be the prognosis indicators for patients with intra abdominal tumor .
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Objective:To investigate the dosage in damaging rabbit liver with high intensity focused ultrasound (HIFU) and the feasibility of real time monitoring with two-dimensional ultrasound.Methods:With fixed HIFU emission power,working frequency,radiation depth,40 rabbit livers were damaged extracorporeally with a HIFU mode of intermittent fixed-spot irradiation.Echo of target region was measured and its changes with time were observed,the extent of echo enhancing region were also measured.Coagulative necrosis in rabbit livers were measured after dissection and pathological inspection were made.Results:Irradiation of extracorporeal HIFU made a coagulative necrosis region in rabbit liver,energy efficiency factor (EEF) were 9.22?1.57 J/mm 3,elevating echo of target region were observed,necrotic volume and maximum scar of rabbit livers were related linearly with volume and maximum area of elevating echo region measured by two-dimensional ultrasound.Conclusion:For specific tissue,there are a great deal experiments to do to decide a common HIFU dosage,two-dimensional ultrasound can realize real time monitoring of target region necrosis,echoic change in target region can predict coagulative necrotic volume.