1.OBSERVATION OF THE MICROFILAMENTS IN THE CULTURED HUMAN FIBROBLASTS WITH COOMASSIE BLUE R 250
Menglian ZHAO ; Minying NIU ; Baorong FAN ; Jie GAO ; Kunren WANG ;
Acta Anatomica Sinica 1954;0(02):-
The experiments was conducted on the fibroblasts of human prepuce in vitro todemonstrate the distribution of cytoplasmic microfilaments with Coomassie Blue R250.It has been found that the distribution of the cytoplasmic microfilaments canbe disturbed by the specific inhibitor,Cytochalasin B.We also observed the inhi-bition by Cytochalasin B was reversible.The cytoplasmic microfilaments regainedtheir normal distribution after the Cytochalasin B was removed.This result further confirmed that the staining method of Coomassie BrilliantBlue R 250 is reliable to demonstrate microfilaments in cultured fibrablasts.
2.Development of the national register of radiation workers: subsystem for individual monitoring of external exposure
Hailao YU ; Haowei NIU ; Quanfu SUN ; Yinghua FU ; Yaohua FAN ; Baorong YUE
Chinese Journal of Radiological Medicine and Protection 2010;30(1):66-72
Purpose To develop a national registry and reporting system of individual monitoring for workers occupationally exposed to ionizing radiation.Methods In accordance with the relevant law,regulations,standards and the current health supervision practice for radiation workers in China,to ensure more effective collection of information on individual monitoring from all levels of service providers across the country and an easy query and analysis of the collected information for both service providers and administrative institutions,the register consisted of an offline-system and a web-based information system.The off-line system consisted of 8 tables,which could easily make annual and period monitoring reports,and upload individual monitoring data in compressed and encrypted format.Web-based system consisted of 6 modules,could easily make S customized tabulations of monitoring data and show 2 trend figures.SSLVPN secure remote access was used in the system.Arranged by the Ministry of Health,training courses provided to all individual monitoring service providers and provincial administrative institutions.Results A new and individual-based national register and reporting system of individual monitoring for workers occupationally exposed to ionizing radiation was successfully developed,and would be officially run soon.Conclusions The establishment and running of the register would be great improvement on the national radiological health reports and produce a far-reaching impact on the individual monitoring in China.
3.Echocardiographic manifestation and analysis of TGFBR1 gene variant in a Chinese patient with Loeys-Dietz syndrome.
Yueli WANG ; Baorong NIU ; Rongjuan LI ; Jinjie XIE ; Xiaoyan LI
Chinese Journal of Medical Genetics 2021;38(12):1220-1223
OBJECTIVE:
To explore the genetic basis for a patient with aortic root aneurysm and valve insufficiency.
METHODS:
The patient was subjected to whole exome sequencing (WES) with a focus on the analysis of genes related to aortic aneurysm and other genetic diseases involving the cardiovascular system. Suspected pathogenic site was validated by Sanger sequencing of the patient and his family members.
RESULTS:
WES has revealed a heterozygous c.830T>C variant (NM_001130916.3) in the patient, which was not detected among healthy members of his family. SIFT, PolyPhen2 and Mutation Taster predicted the variant to be disease causing, resulting in destruction of the structure and function of the TGFBR1 protein. Based on the American College of Medical Genetics and Genomics (ACMG) guidelines, the variant was predicted to be likely pathogenic (PM1+PM2+PM6+PP3+PP4).
CONCLUSION
The c.830T>C variant of the TGFBR1 gene probably underlay the disease in the proband. Above finding has enriched the spectrum of TGFBR1 gene variants in Chinese population.
China
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Echocardiography
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Humans
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Loeys-Dietz Syndrome/genetics*
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Mutation
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Pedigree
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Receptor, Transforming Growth Factor-beta Type I/genetics*
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Whole Exome Sequencing