1.Study of the degree in white matter structural networks in the glioma based on diffusion tensor tractography.
Weizhou ZHU ; Ling TAO ; Zhiyu QIAN ; Chuanjian XU
Journal of Biomedical Engineering 2013;30(6):1309-1314
At present, an effective detecting method for brain function impairment for the patients with the glioma is urgently needed in clinic, because it may help us understand its pathogenesis. This paper proposes a method of combining diffusion tensor tracing technology and 'small world' network. It utilizes the degree of brain function network to study complex network topological properties of the patients with the glioma in temporal lobe area. The experimental results showed that the brain networks of the patients with the glioma of different grades were destroyed compared with those of the normal persons, but the destruction degree is independent of the tumor grades. The distribution of functional connections is index truncated power-law accompanied by significant heterogeneity. Meanwhile, the stronger functional areas of information in the glioma have transferred and there exists lack of language function area and sensory function area.
Brain
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physiopathology
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Diffusion Tensor Imaging
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Glioma
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pathology
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Humans
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White Matter
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pathology
2.Analysis of a case with gonadal mosaicism for COL1A2 variant.
Haiyan ZHU ; Yuanyuan CHEN ; Lili WANG ; Weizhou WANG ; Sheng HE
Chinese Journal of Medical Genetics 2020;37(5):523-526
OBJECTIVE:
To explore the genetic basis for a couple with normal phenotype but repeated pregnancies with fetuses affected by osteogenesis imperfecta.
METHODS:
Whole exome sequencing (WES) was carried out on fetal specimens and parental DNA to detect potential pathologic variants. Suspected variants were verified by Sanger sequencing. Semen sample of the husband was collected for the extraction of genome DNA, and whole genome amplification (WGA) was performed for single sperms isolated from the sample.
RESULTS:
WES has identified a heterozygous c.1378G>A (p.G460S) variant of the COL1A2 gene in the fetus, which was predicted to be pathogenic but not detected in peripheral blood samples of both husband and wife. The heterozygotic variant was detected in semen DNA from the husband. Among 15 spermatozoa, 4 were found to harbor the variant.
CONCLUSION
The fetus was diagnosed with osteogenesis imperfecta, and the gonadal mosaicism probably accounted for the repeated abnormal pregnancies. Possibility of gonadal mosaicism should be considered when counseling couples with normal phenotype and genotype but recurrent abnormal pregnancies and/or births of children with similar phenotypes and genetic variants.
Adult
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Child
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Collagen Type I
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genetics
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Female
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Fetus
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Gonadal Disorders
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genetics
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Humans
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Male
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Mosaicism
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Mutation
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Osteogenesis Imperfecta
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diagnosis
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genetics
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Pregnancy
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Prenatal Diagnosis
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Whole Exome Sequencing