1.Association of MTHFR gene C677T polymorphism with problem behavior and inheritance pattern among children with autism.
Shihao XU ; Shuang MEN ; Xulong WANG ; Fangfang ZHAN ; Xiangdong YUAN
Chinese Journal of Medical Genetics 2022;39(8):898-902
OBJECTIVE:
To assess the association of C677T polymorphism of methylenetetrahydrofolate reductase (MTHFR) gene with autistic behavior and inheritance pattern of children patients.
METHODS:
Ninety three autism patients were selected as the study group, whilst 93 healthy children were selected as the control group. The C677T genotype of the MTHFR gene was determined, and the correlation between the genotype and the autistic behavior and inheritance pattern were investigated.
RESULTS:
MTHFR gene C677T locus revealed three genotypes CC, CT and TT. Compared with the control group, the study group had fewer CC genotype but more TT genotype (P<0.05). Individuals with the three genotypes showed a statistically significant difference in the frequencies of four problem behaviors (P<0.05). Regression analysis showed that at least one T allele encoding the degree of 1 and 2 for the 4 problem behaviors that were statistically different. MTHFR gene C677T genotype was associated with autism under the recessive inheritance model and allelic inheritance model (P<0.05).
CONCLUSION
The C677T polymorphism of the MTHFR gene is associated with autistic behaviors. Children with the TT genotype or T allele are at higher risk of developing autism, particularly direct gaze, complex limb movements, self-injurious behavior and hyperactivity 1 and 2 related with the degree of coding.
Autistic Disorder/genetics*
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Child
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Genetic Predisposition to Disease
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Genotype
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Humans
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Inheritance Patterns
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Methylenetetrahydrofolate Reductase (NADPH2)/genetics*
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Problem Behavior
2.Establishment and identification of C57BL/6 mouse model with radiation-induced pulmonary fibrosis
Meng YUAN ; Yu MEN ; Xin SUN ; Maoyuan ZHAO ; Dan BAO ; Xu YANG ; Shuang SUN ; Yongxing BAO ; Zeliang MA ; Yunsong LIU ; Zhouguang HUI
Chinese Journal of Radiation Oncology 2022;31(10):928-932
Objective:To establish the mouse model with radiation-induced pulmonary fibrosis, and to identify and analyze it from the aspects of function, imaging and pathology.Methods:Thirty C57BL/6 mice were randomly divided into the control group, 16 Gy irradiation group and 20Gy irradiation group. The mice in the irradiation groups received a single 16 Gy or 20 Gy chest X-ray irradiation, and underwent functional examination, imaging examination and pathological examination at 3 and 6 months after irradiation.Results:At 6 months after irradiation, hair on the chest and back of the mice turned white and fell off, and the airway resistance was increased significantly. CT images showed extensive patch shadows and consolidation in the lung. Three dimensional reconstruction suggested that the lung of mice was distorted and deformed, and the volume was decreased significantly. Pathological examination confirmed that there was extensive pulmonary fibrosis.Conclusions:Significant pulmonary fibrosis occurs after 6 months of chest irradiation in mice. The animal model of radiation-induced pulmonary fibrosis in C57BL/6 mice was successfully established.
3.Research Progress on Risk Factors of Brain Metastasis in Non-small Cell Lung Cancer.
Shuang SUN ; Yu MEN ; Zhouguang HUI
Chinese Journal of Lung Cancer 2022;25(3):193-200
Brain metastasis of non-small cell lung cancer (NSCLC) is a common treatment failure mode, and the median survival time of NSCLC patients with brain metastasis is only 1 mon-2 mon. Prophylactic cranial irradiation (PCI) can delay the occurrence of brain metastasis, but the survival benefits of NSCLC patients are still controversial. It is particularly important to identify the patients who are most likely to benefit from PCI. This article reviews the high risk factors of brain metastasis in NSCLC.
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Brain Neoplasms/secondary*
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Carcinoma, Non-Small-Cell Lung/pathology*
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Cranial Irradiation
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Humans
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Lung Neoplasms/pathology*
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Risk Factors