1.Prenatal ultrasound manifestations of TUBB3 gene-related microtubule protein disease:a case report
Yuan ZHAO ; Yan XIA ; Xiaodong LIU ; Yang WU ; Yarui WEI ; Wei ZHAO ; Xueqin JI
Chinese Journal of Ultrasonography 2025;34(5):439-442
Microtubulin disease,which is rare in prenatal settings,is characterized by severe brain developmental abnormalities due to mutations in the microtuberin gene.In this article,a patient diagnosed with TUBB3-related microtubule proteinopathy during prenatal testing was reported,serving as a reference for prenatal physicians. A 33-year-old pregnant woman,who was 23 +5 weeks pregnant,visited to Peking University First Hospital Ningxia Women and Children's Hospital. During a prenatal ultrasound examination,it was discovered that the fetal brain midline was curved,the septum pellucida was twisted,the left lateral fissure had an oblique platform shape,the left lateral ventricle was enlarged,and there were left thoracic cystadenoma and right ventricular hyperechoic plaques. Whole exome sequencing was performed and revealed a mutation in the TUBB3 gene. The pregnancy was terminated at 26 +6 weeks of gestation. Prenatal ultrasound can detect some signs of microtubule protein disease,and genetic testing is recommended for prenatal diagnosis to comprehensively assess the prognosis of the fetus.
2.Prenatal ultrasound manifestations of TUBB3 gene-related microtubule protein disease:a case report
Yuan ZHAO ; Yan XIA ; Xiaodong LIU ; Yang WU ; Yarui WEI ; Wei ZHAO ; Xueqin JI
Chinese Journal of Ultrasonography 2025;34(5):439-442
Microtubulin disease,which is rare in prenatal settings,is characterized by severe brain developmental abnormalities due to mutations in the microtuberin gene.In this article,a patient diagnosed with TUBB3-related microtubule proteinopathy during prenatal testing was reported,serving as a reference for prenatal physicians. A 33-year-old pregnant woman,who was 23 +5 weeks pregnant,visited to Peking University First Hospital Ningxia Women and Children's Hospital. During a prenatal ultrasound examination,it was discovered that the fetal brain midline was curved,the septum pellucida was twisted,the left lateral fissure had an oblique platform shape,the left lateral ventricle was enlarged,and there were left thoracic cystadenoma and right ventricular hyperechoic plaques. Whole exome sequencing was performed and revealed a mutation in the TUBB3 gene. The pregnancy was terminated at 26 +6 weeks of gestation. Prenatal ultrasound can detect some signs of microtubule protein disease,and genetic testing is recommended for prenatal diagnosis to comprehensively assess the prognosis of the fetus.
3.Correlation between blood lipid level and gastric cancer
Wei JI ; Quanlin GUAN ; Yarui CHEN ; Fuzhi JIAO ; Qianwen LUO
Journal of International Oncology 2023;50(3):183-185
Patients with gastric cancer often have different degrees of dyslipidemia, and the level of lipid changes is closely related to the occurrence, development and prognosis of gastric cancer. The mechanism of lipid metabolism in gastric cancer has also attracted much attention, and it may be related to the reverse cholesterol transport function, antioxidant and anti-inflammatory properties of high-density lipoprotein cholesterol. In addition, statins may reduce the risk of gastric cancer and associated mortality. Further research on the correlation between blood lipid levels and gastric cancer is aimed to provide new ideas for the future prevention and precision diagnosis and treatment of gastric cancer.
4.Research Progress of Antibody-drug Conjugates in Advanced Non-small Cell Lung Cancer
Yarui CHEN ; Jiangtao WANG ; Quanlin GUAN ; Wei JI ; Fuzhi JIAO
Cancer Research on Prevention and Treatment 2022;49(8):855-860
Although targeted, immune and other therapeutic strategies have become the first-line standard therapy for patients with advanced lung cancer, acquired drug resistance is still inevitable in most cases. The advent of antibody-drug conjugates (ADC) provides a new choice. ADC is a new anticancer drug formed by the coupling of targeted anti-tumor monoclonal antibodies and cytotoxic drugs. Compared with chemotherapeutic drugs, ADC has the advantages of high tolerance, accurate target recognition and little effect on non-cancer cells, and has shown good clinical benefits in the treatment of a variety of malignant tumors. This article reviews the application of ADC in advanced non-small cell lung cancer.
5.Clinical study of treating anterior disk displacement without reduction by conservative sequence method
Ying ZHANG ; Qingbin ZHANG ; Yarui LIU ; Li DENG ; Xia HE ; Wei CAO ; Shiman CUI
Journal of Practical Stomatology 2016;32(5):688-691
Objective:To observe the clinical effects of conservative sequence method in the treatment of anterior disk displacement without reduction(ADDWR).Methods:300 patients with ADDWR were included.200 patients were treated by conservative sequence method (including upper articular cavity lavage with single needle + injection of sodium hyaluronate gel + physical therapy + gimmick reset + oral exercise) (group 1);the other 100 were treated by injection of sodium hyaluronate gel(group 2).Maximum mouth opening (MM0) and pain visual analogue scale(VAS) were measured and compared before and after treatment.Results:In group 1 the effective rate was 95.5%,before treatment MMO was (22.90 ± 3.18) mm,VAS (5.81 ± 0.32);3 months after treatment MMO (37.05 ± 4.43) mm,VAS (1.29 ± 0.19);6 months after treatment MMO (36.29 ± 4.08) mm,VAS (1.37 ± 0.22);12 months after treatment MMO (35.76 ±3.87) mm,VAS (1.52 ±0.28),respectively.In group 2,the effective rate was 78%,before treatment MMO was(23.12 ±4.02) mm,VAS (6.11 ±0.67);3 months after treatment MMO (36.11 ±4.02),VAS (1.89 ±0.21);6 months after treatment MMO (35.49 ±3.78),VAS (2.21 ±0.32);12 months after treatment MMO (31.53 ±4.87) mm,VAS (3.88 ±0.51)mm,respectively.By statistics,all the measurments showed statistical significance(P < 0.05) between 2 groups.Conclusion:Conservative sequence method is more effective in the treatment of ADDWR.

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