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Objective@#To analyze the clinical phenotype of a Chinese pedigree affected with Tuberous sclerosis complex(TSC) and explore pathogenic mutations of TSC1 and TSC2 gene.@*Methods@#Unique clinical phenotypes, the results of imaging, examination of the proband and special family history, collectively, made the constellation of features of TSC.Genomic DNA was obtained from six affected and eight unaffected members of the family and potential mutations of the TSC1 and TSC2 genes were detected by PCR-amplification of the exons and exon-intron boundaries and direct sequencing.A total of 150 normal unrelated individuals were used as controls.@*Results@#Genetic analysis documented the presence of a heterozygous mutation, c. 1781_1782delTG (p.Val594GlyfsX11), in the exon 15 of TSC1 gene within all the patients of the family. This mutation was not observed in the eight unaffected family members or in the 150 unrelated control subjects from the same population , or the Human Gene Mutation Database(HGMD)and had completely co-segregated with the disease phenotype in the family.@*Conclusions@#The c. 1781_1782delTG mutation of TSC1 gene may be responsible for the tuberous sclerosis complex in this family. The data presented in the present study are of significance to clinicians, as well as genetic counselors, and may provide new clues for molecular diagnosis of this disease.
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OBJECTIVE@#To analyze the clinical phenotype of a Chinese pedigree affected with Tuberous sclerosis complex (TSC) and explore pathogenic mutations of TSC1 and TSC2 gene.@*METHODS@#Unique clinical phenotypes，the results of imaging, examination of the proband and special family history, collectively, made the constellation of features of TSC. Genomic DNA was obtained from six affected and eight unaffected members of the family and potential mutations of the TSC1 and TSC2 genes were detected by PCR-amplification of the exons and exon-intron boundaries and direct sequencing. A total of 150 normal unrelated individuals were used as controls.@*RESULTS@#Genetic analysis documented the presence of a heterozygous mutation, c.1781_1782delTG (p.Val594GlyfsX11), in the exon 15 of TSC1 gene within all the patients of the family. This mutation was not observed in the eight unaffected family members or in the 150 unrelated control subjects from the same population , or the Human Gene Mutation Database (HGMD) and had completely co-segregated with the disease phenotype in the family.@*CONCLUSION@#The c.1781_1782delTG mutation of TSC1 gene may be responsible for the tuberous sclerosis complex in this family. The data presented in the present study are of significance to clinicians, as well as genetic counselors, and may provide new clues for molecular diagnosis of this disease．.
Subject(s)
Humans , DNA Mutational Analysis , Mutation , Pedigree , Tuberous Sclerosis , Genetics , Tuberous Sclerosis Complex 1 Protein , Genetics , Tuberous Sclerosis Complex 2 ProteinABSTRACT
Objective To explore the inhibition effect on angiogenesis and plaque growth of carotid atherosclerosis by transfection of endostatin gene using microbubbles combined with ultrasound exposure.Methods Twenty rabbit models of carotid atherosclerosis were randomly divided into 3 groups:group A,microbubble+ ultrasound; group B, control plasmid + microbubble + ultrsound; group C, ES plasmid +microbubble+ ultrasound. Two weeks after surgery, ultrasound/microbubble mediated gene transfer was performed,and it was performed once again three weeks after the first transfection. Ultrasonography and digital subtraction angiography(DSA) were performed at the time of 14 weeks. The carotid arteries were taken to detect the neointima and angiogenesis, and the expression of endostatin was detected using pathological means. Results The imagings of ultrasound showed that the intima in group A and B were thick significantly with larger plaques, and the lumen became stenosis with the peak systolic velocity increasing,however,in group C,the parameters mentioned above were significantly less than those of group A and B ( P＜0.05). Pathological results displayed that intima-media thickness (IMT), intima thickness (IT), intima thickness/media thickness (IT/MT), intima area (IA), intima area/media area (IA/MA) and neointimal stenosis rates were greater in group A and B, however, they were less in group C ( P＜0.05).The number of neovascularization and vascular endothelial growth factor(VEGF) expression in group A and B were more than those of group C. There was more endostatin positive expression in carotid arteries and anterior tibial muscles of group C, while there was nearly no expression in group A and B. Conclusions Under the conditioned ultrasonic irradiation, ultrasound/microbubble mediated endostatin gene transfection can inhibit the development of carotid atherosclerosis in rabbits, which might provide a safe and effective strategy for gene therapy of atherosclerotic disease in future.
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Objective To study the clinical values of polyvinyl alcohol chemoembolization and bronchial arterial infusion(BAI) in interventional therapy of central bronchogenic carcinoma.Methods 45 pathologically proved cases of central bronchogenic carcinoma in mid or late period were randomly divided into two groups(control group in 24 cases and experimental group in 21 cases).After detecting the nourishing arteries of bronchogenic carcinoma with angiography,the treating processes were performed.Control group : anticancer drugs were poured into bronchial artery.Experimental group : the feeding arteries of tumors were co-axially superselective catheterized with microcatheters,the anti-neoplasm agents were poured into everyone of feeding arteries according to the blood supply,then the feeding arteries were embolized by polyvinyl alcohol.Results Control group : the obvious effective rate(CR+PR) was 50%.Experimental group:the obvious effective rate was 90.4%.Two cases in control group obtained the chances of radical operation and chemotherapy were performed after operation,the other 22 cases were undergone synthetic treatment.Seven cases in experimental group obtained the chances of radical operation and chemotherapy were performed after operation,14 cases were undergone synthetic treatment.Three cases in control group died and none of in experimental group died in the follow-up of 2~24 months.Conclusion The short-term effect of polyvinyl alcohol embolization is better than those of BAI for interventional therapy of central bronchogenic cancer,but the long-term effect needs a large number of cases to access the real clinical value.
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Objective To discuss the possibility of interventional diagnosis and treatment of uterine artery bleeding after curettage. Methods Select the emergent patients with uterine artery bleeding after curettage as the basis for study. Three women with uterine artery bleeding underwent femoral artery puncture and transcatheter uterine artery embolization. Bilateral selective artery angiographies were performed, and then underwent artery embolization after exhibiting the bleeding sites. Results Three patients were promptly and correctly diagnosed and arterial embolization were then attempted under DSA. No recurrence of bleeding during the angiographic and clinical follow up simultaneously with no serious complication. Conclusions Uterine arterial DSA and interventional embolization of uterine artery are effective in the diagnosing and treatting emergent uterine artery bleeding after curettage.