1.Long-term results and prognostic factors in 582 nasopharyngeal carcinoma treated by intensitymodulated radiotherapy
Mei FENG ; Zixuan FAN ; Jie LI ; Peng ZHANG ; Tao LI ; Hao WEN ; Jie WANG ; Jian WANG ; Jichuan WANG ; Weidong WANG ; Jinyi LANG
Chinese Journal of Radiation Oncology 2011;20(5):369-373
Objective To evaluate the long-term results and prognostic factors in 582 nasopharyngeal carcinoma ( NPC ) patients treated by intensity modulated radiotherapy ( IMRT ) . Methods 582 newly diagnosed NPC patients treated by IMRT in Sichuan cancer hospital from Jan. 2001 to Dec. 2004were reviewed. According to 2002UICC staging system, there were 36 stage Ⅰ , 144 stage Ⅱ , 224 stage Ⅲ, 178 stage Ⅳa. The Kaplan-Meier method was used to calculate the survival rate.Acute and late toxicities were graded according to the radiation therapy oncology group (RTOG) radiation morbidity scoring criteria. Results The follow up rate was 93.5%. The 5-year local control, regional control, distant metastasis-free survival, disease free survival, disease specific survival and overall survival rate was 89. 8%,95. 2%, 74. 1%, 69.6%, 83.2% and 77. 1%. There were 29, 13 and 117 patients who had developed local, regional and distant recurrence respectively. The incidence of grade 3 acute ( salivary gland、 oral mucosa and skin) and late toxicity was 44. 5% and 4. 2%. No grade 4 acute and late toxicity reaction was found. Multivariate analysis showed that clinical stage, N stage, radiotherapy interruption, age, HGB and weight loss were the independent prognostic factors for the overall survival. ConclusionsNPC treated with IMRT could get good long-term survival with high quality of life. The clinical stage and N stage were the main prognostic factors for the overall survival. The acute and late toxicities were mainly grade 1 and 2.Distant metastasis is the main cause of treatment failure.
2.Analysis of TUBB4A gene variant in a patient with adolescent-onset hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum.
Zixuan YING ; Xi CHENG ; Xiaoquan XU ; Zhi MA ; Zhengyu CHEN ; Wen CHEN ; Lang QIN ; Qi NIU
Chinese Journal of Medical Genetics 2023;40(4):390-394
OBJECTIVE:
To explore the clinical characteristics and genetic etiology of a patient with adolescent-onset hypomyelinated leukodystrophy with atrophy of basal ganglia and cerebellum (H-ABC).
METHODS:
A patient who was diagnosed with H-ABC in March 2018 at the First Affiliated Hospital of Nanjing Medical University was selected as the study subject. Clinical data was collected. Peripheral venous blood samples of the patient and his parents were collected. The patient was subjected to whole exome sequencing (WES). Candidate variant was verified by Sanger sequencing.
RESULTS:
The patient, a 31-year-old male, had manifested with developmental retardation, cognitive decline and abnormal gait. WES revealed that he has harbored a heterozygous c.286G>A variant of the TUBB4A gene. Sanger sequencing confirmed that neither of his parents has carried the same variant. Analysis with SIFT online software indicated the amino acid encoded by this variant is highly conserved among various species. This variant has been recorded by the Human Gene Mutation Database (HGMD) with a low population frequency. The 3D structure constructed by PyMOL software showed that the variant has a harmful effect on the structure and function of the protein. According to the guidelines formulated by the American College of Medical Genetics and Genomics (ACMG), the variant was rated as likely pathogenic.
CONCLUSION
The c.286G>A (p.Gly96Arg) variant of the TUBB4A gene probably underlay the hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum in this patient. Above finding has enriched the spectrum of TUBB4A gene variants and enabled early definitive diagnosis of this disorder.
Male
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Humans
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Adolescent
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Adult
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Magnetic Resonance Imaging
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Basal Ganglia/pathology*
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Cerebellum
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Atrophy/pathology*
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Mutation
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Tubulin/genetics*
3.Analysis on Children's Health Equity in Countries along the"Belt and Road"Based on Concentration Index and Thiel Index
Linhong LI ; Zeyu TAN ; Xinyi ZHANG ; Zixuan WEN ; Tongtong GUO ; Zewen XU ; Qi JING ; Wengui ZHENG
Chinese Health Economics 2024;43(2):49-52
Objective:To analyze and evaluate the equity of children's health in countries along the"the Belt and Road",promote further attention to children's health in countries along the route,and promote cooperation and exchanges on children's health between China and countries along the"the Belt and Road".Methods:Using concentration index and concentration curve to measure overall equity,and using the Thiel index for intraregional and interregional euqity measurement.Results:The under-five mortality concentration index is 0.349 7,the concentration curve is below the absolute fair line.The Thiel index shows that inequality in low-income countries,lower-middle-income countries,upper-middle-income countries and high-income countries is the leading cause of child health inequities in the"the Belt and Road"countries.Conclusion:There is inequity in the health of children in countries along"the Belt and Road Initiative",countries along the"the Belt and Road"should take comprehensive measures to reduce the under-five mortality rate,at the same time strengthen international cooperation to further promote equity in children's health in"Belt and Road"countries.
4.Expression of PD-1 in T-cell acute lymphoblastic leukemia cells and its clinical significance
WEN Chunmei ; LI Zixuan ; WANG Yu ; ZHU Xuejun ; MENG Huimin ; JU Jie ; ZHANG Tingting ; ZHANG Xiuyan ; YUAN Lei ; AN Gangli ; YANG Lin
Chinese Journal of Cancer Biotherapy 2019;26(7):768-775
Objective: To investigate the expression and clinical significance of PD-1 molecule in tumor cells (T-ALL cells) derived from the patient with T-cell acute lymphoblastic leukemia (T-ALL). Methods: T-ALL cells from one patient and PBMCs from four healthy volunteers provided by the Department of Hematology in Jiangsu Provincial Hospital of Traditional Chinese Medicine in December 2015, and human 293T/PD-1 cells provided by Persongen Bio Therapeutics (Suzhou) Co., Ltd. were used for this study. The mouse T-ALL xenograft model was constructed by injecting T-ALL cells into tail vein of B-NDG mice, and flow cytometry was used to verify whether the cells obtained from the spleen of transplanted mice were mainly consisted of T-ALL cells. Flow cytometry was used to study the protein expression of PD-1 in T-ALL cells, and RT-PCR was applied to further verify the mRNA expression of PD-1 in T-ALL cells. The PD-1 gene in T-ALL cells was sequenced by SNP genotyping to detect whether the DNA sequence of PD-1 gene changed. PD-1 inhibitor was used in vitro to study their effects on proliferation, apoptosis, and the mRNA expression levels of related factors in T-ALL cells. Results: The mouse T-ALL xenograft model was successfully constructed and verified by flow cytometry as T-ALL. PD-1 was highly expressed at both mRNA and protein levels in T-ALL cells (all P<0.01). A C-to-T mutation was detected in the fifth exon of the PD-1 gene. PD-1 inhibitor had no significant effect on proliferation and apoptosis of T-ALL cells in vitro; PD-1 inhibitor up-regulated the mRNA expression of tumor-suppressor protein IGFBP3 and decreased the mRNA expression of oncoprotein SULT1A3 (all P<0.01). Conclusion: PD-1 is highly expressed in T-ALL cells, and PD-1 could be used as a target for clinical diagnosis and treatment for T-ALL.