1.Genetic polymorphisms of fifteen short tandem repeats in Tujia ethnic group of Hubei province.
Jie ZOU ; Yuanyan ZHU ; Gang SHENG
Chinese Journal of Medical Genetics 2009;26(6):701-704
<p>OBJECTIVETo investigate the genetic polymorphisms of 15 short tandem repeat (STR) loci in Tujia ethnic group of Hubei province, and to compare the allele frequencies between Hubei Tujia and Chongqing Tujia populations.p><p>METHODSCapillary electrophoresis and five-color fluorescent multi-amplification were applied to detect the genotypes of 15 STR loci in 333 unrelated Hubei Tujia individuals.p><p>RESULTSOne hundred and fifty one alleles were observed in the population, which is higher than 141 alleles observed in Chongqin Tujia population, and their frequencies were from 0.002 to 0.498. No significant deviation from the Hardy-Weinberg Equilibrium was observed (P>0.05). Statistical analysis showed that the heterozygosity of the 15 loci ranged from 0.652 to 0.867. The values of discrimination power (DP) ranged from 0.802 to 0.971. The values of excluding probability of paternity (EPP) ranged from 0.357 to 0.730, and the polymorphism information content (PIC) was 0.57-0.87. The fifteen loci showed an accumulated total discrimination power (TDP) of more than 0.999 999 9, and the cumulative excluding probability of paternity was 0.999 999 7.p><p>CONCLUSIONThis study has accumulated the population genetic data of the 15 STRs in Hubei Tujia ethnic group. The data can be used in forensic and individual identification for this population. Hubei Tujia is phylogenetically related to Chongqing Tujia, and the allele frequencies were non-distinctive (P>0.05), while the number of alleles detected, and the frequencies of some alleles observed were different.p>
Asian Continental Ancestry Group
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ethnology
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genetics
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China
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Female
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Humans
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Male
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Microsatellite Repeats
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Pedigree
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Polymorphism, Genetic
2.Advance on Dicer gene and its role in female reproduction.
Chinese Journal of Medical Genetics 2011;28(3):275-278
Dicer is an RNAse III endonuclease that is essential for the biogenesis of microRNAs and small interfering RNAs. These small RNAs transcriptionally and post-transcriptionally regulate mRNA expression through RNA interference mechanisms. Recently, the function of Dicer in female reproduction has begun to be elucidated through the use of knockout mouse models. Several latest studies have indicated that Dicer gene plays a key role in female reproductive processes such as oocyte maturation, early embryonic development and implantation and steroidgenesis. When Dicer expression is decreased in female reproductive tissues or cells, it will cause infertility. In this article, author discuss the role of Dicer gene in female reproductive tract, and advance of Dicer gene study in female reproductive events.
Animals
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Embryonic Development
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genetics
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Female
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Humans
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MicroRNAs
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Ovary
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metabolism
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Ovum
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metabolism
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RNA Interference
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Reproduction
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genetics
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Ribonuclease III
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genetics
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metabolism
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Uterus
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metabolism
3.Expression of both Albumin and Cytokeratin of Small Epithelial Cells in Human Hepatocellular Carcinoma
Jia-cheng, XIAO ; Shang-lin, ZHU ; Qin-yu, LI ; P, RUCK ; A, ADAM ; E, KAISERLING
Journal of Shanghai Jiaotong University(Medical Science) 2001;21(1):35-38
ObjectiveTo investigate whether small epithelial cells (SEC) exist in human hepa- tocellularcarcinoma (HCC) and if so, whether they exhibit immunolabelling for both albumin and cytokeratin 7 (CK7). MethodsThirty cases of human HCC from operative specimens were investi- gated by immunohistochemistry with antibody against albumin, a marker of hepatocyte differentiation and CK7, a marker of biliary differentiation. Ten cases were investigated by electron microscopy and by immuno- electron microscopy. ResultsThe SEC were found in 20 of 30 cases that located around the edges of the tumors and appeared as proliferative small biliary ductules. Under electron microscopy they were of small size, contained sparse cytoplasm, few free ribosomes, intracellular tonofilarnents, and intercellular junctions. Immunoelectron microscopically the SEC exhibited labelling for both albumin and CK7 in 5 out of 10 cases. ConclusionSEC in human HCC are found that represent the same mor- phology like those seen in hepatoblastoma and biliary atresia, co- expressed markers for hepatocytic and biliary differentiation.
4.Long-term effectiveness of arthroscopic partial repair for massive irreparable rotator cuff tears.
Meng ZHOU ; Yiming ZHU ; Chunyan JIANG
Chinese Journal of Reparative and Reconstructive Surgery 2023;37(4):385-390
OBJECTIVE:
To explore the long-term effectiveness of arthroscopic partial repair in treatment of massive irreparable rotator cuff tears from both the radiological and clinical perspectives.
METHODS:
A retrospective analysis was conducted on the clinical data of 24 patients (25 sides) with massive irreparable rotator cuff tears who met the inclusion criteria between May 2006 and September 2014. Among them, there were 17 males (18 sides) and 7 females (7 sides) with an age range of 43-67 years (mean, 55.0 years). There were 23 cases of unilateral injury and 1 case of bilateral injuries. All patients were treated with the arthroscopic partial repair. The active range of motion of forward elevation and abduction, external rotation, and internal rotation, as well as the muscle strength for forward flexion and external rotation, were recorded before operation, at the first postoperative follow-up, and at last follow-up. The American Association of Shoulder and Elbow Surgeons (ASES) score, the University of California at Los Angeles (UCLA) shoulder scoring, and Constant score were used to evaluate shoulder joint function. And the visual analogue scale (VAS) score was used to evaluate shoulder joint pain. MRI examination was performed. The signal-to-noise quotient (SNQ) was measured above the anchor point near the footprint area (m area) and above the glenoid (g area) in the oblique coronal T2 fat suppression sequence. The atrophy of the supraspinatus muscle was evaluated using the tangent sign. The global fatty degeneration index (GFDI) was measured to assess fat infiltration in the supraspinatus muscle, infraspinatus muscle, teres minor muscle, upper and lower parts of the subscapularis muscle. The mean GFDI (GFDI-5) of 5 muscles was calculated.
RESULTS:
The incisions healed by first intention. All patients were followed up with the first follow-up time of 1.0-1.7 years (mean, 1.3 years) and the last follow-up time of 7-11 years (mean, 8.4 years). At last follow-up, the range of motion and muscle strength of forward elevation and abduction, ASES score, Constant score, UCLA score, and VAS score of the patients significantly improved when compared with those before operation ( P<0.05). Compared with the first follow-up, except for a significant increase in ASES score ( P<0.05), there was no significant difference in the other indicators ( P>0.05). Compared with those before operation, the degree of supraspinatus muscle infiltration worsened at last follow-up ( P<0.05), GFDI-5 increased significantly ( P<0.05), and there was significant difference in the tangent sign ( P<0.05); while there was no significant difference in the infiltration degree of infraspinatus muscle, teres minor muscle, and subscapularis muscle, upper and lower parts of the subscapularis muscle ( P>0.05). Compared with the first follow-up, the SNQm and SNQg decreased significantly at last follow-up ( P<0.05). At the first and last follow-up, there was no correlation between the SNQm and SNQg and the ASES score, Constant score, UCLA score, and VAS score of the shoulder ( P>0.05).
CONCLUSION
Arthroscopic partial repair is effective in treating massive irreparable rotator cuff tear and significantly improves long-term shoulder joint function. For patients with severe preoperative fat infiltration involving a large number of tendons and poor quality of repairable tendons, it is suggested to consider other treatment methods.
Male
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Female
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Humans
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Adult
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Middle Aged
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Aged
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Rotator Cuff Injuries/surgery*
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Retrospective Studies
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Shoulder Joint/surgery*
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Treatment Outcome
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Arthroscopy/methods*
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Range of Motion, Articular
5.Oral panorama reconstruction method based on pre-segmentation and Bezier function.
Changpeng HOU ; Fudong ZHU ; Gaohua ZHANG ; Zhen LYU ; Yunfeng LIU ; Weidong ZHU
Journal of Biomedical Engineering 2023;40(5):894-902
For patients with partial jaw defects, cysts and dental implants, doctors need to take panoramic X-ray films or manually draw dental arch lines to generate Panorama images in order to observe their complete dentition information during oral diagnosis. In order to solve the problems of additional burden for patients to take panoramic X-ray films and time-consuming issue for doctors to manually segment dental arch lines, this paper proposes an automatic panorama reconstruction method based on cone beam computerized tomography (CBCT). The V-network (VNet) is used to pre-segment the teeth and the background to generate the corresponding binary image, and then the Bezier curve is used to define the best dental arch curve to generate the oral panorama. In addition, this research also addressed the issues of mistakenly recognizing the teeth and jaws as dental arches, incomplete coverage of the dental arch area by the generated dental arch lines, and low robustness, providing intelligent methods for dental diagnosis and improve the work efficiency of doctors.
Humans
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Radiography, Panoramic/methods*
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Cone-Beam Computed Tomography/methods*
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Head
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Image Processing, Computer-Assisted/methods*
6.C721T mutation of the alpha 1,3 galactosyltransferase gene responsible for Bw subgroup.
Faming ZHU ; Xianguo XU ; Xiaozhen HONG ; Lixing YAN
Chinese Journal of Medical Genetics 2005;22(2):138-141
<p>OBJECTIVETo gain an insight into the molecular genetic basis of Bw subgroup of ABO blood group system.p><p>METHODSThree Bw phenotypes were confirmed by standard serological techniques. The enhancer, promoter and exons 1-7 including flanking introns of ABO gene were amplified and directly sequenced after PCR amplified fragments being purified by gel. Exons 6 and 7 were also sequenced after pcDNA3.1 (-) vector transformation. The sequence specific primer-polymerase chain reaction was performed to confirm the mutations detected by sequencing in this study.p><p>RESULTSGenotypes of three individuals were Bw/O by direct sequencing, there were G deletion heterozygous at position 261 and C/T heterozygous at position 721. A normal O allele was confirmed by cloning sequencing and 721 C>T mutation of the alpha 1, 3 galactosyltransferase (B allele) gene was also observed, which caused amino acid 241 Arg>Trp substitution. This mutation was not detected in 140 random samples by PCR-SSP.p><p>CONCLUSIONThe mutation of 721C>T in the alpha 1, 3 galactosyltransferase gene may be one of the molecular genetic bases of Bw phenotype.p>
ABO Blood-Group System
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genetics
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Alleles
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Base Sequence
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DNA Mutational Analysis
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Exons
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Female
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Galactosyltransferases
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genetics
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Genotype
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Humans
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Introns
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Male
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Molecular Sequence Data
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Point Mutation
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Polymerase Chain Reaction
7.Screening of rare blood group Lu(a-b-) phenotype and study of its molecular basis in ethnic Han Chinese from Shanghai region.
Chen WANG ; Qin LI ; Zhonghui GUO ; Luyi YE ; Ziyan ZHU
Chinese Journal of Medical Genetics 2014;31(2):238-241
<p>OBJECTIVETo study the frequency of rare blood group Lu(a-b-) phenotype in a population from Shanghai region, and to explore the molecular basis of Lu(a-b-) by detecting the Lu and Lu relative mediator gene EKLF/KLF1.p><p>METHODSDonors from Shanghai region were screened for Lutheran blood group by monoclonal anti-Lub using serological methods. Individuals with Lu(b-) were determined Lua, P1 and i antigens. Fifteen exons of the LU gene and 3 exons of the EKLF/KLF1 gene for the identified Lu(a-b-) samples were amplified and sequenced.p><p>RESULTSTen Lu(a-b-) donors were obtained from 44 331 donors from Shanghai region. No homozygous or heterozygous mutations were found in the LU gene, whilst 7 mutations in EKLF/KLF1 gene were identified in the 10 samples.p><p>CONCLUSIONThe frequency of rare Lu(a-b-) blood group in Shanghai was approximately 0.02%, and all the individuals had an In(Lu) phenotype. The molecular basis of such samples may be related to mutations in the EKLF/KLF1 gene.p>
China
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ethnology
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Humans
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Kruppel-Like Transcription Factors
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genetics
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Lutheran Blood-Group System
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genetics
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Mutation
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Phenotype
8.Role of chemotherapy in stage IIb nasopharyngeal carcinoma.
Chinese Journal of Cancer 2012;31(12):573-578
The efficacy of neoadjuvant chemotherapy and adjuvant chemotherapy on stage IIb nasopharyngeal carcinoma(NPC) remains unclear. Conventional two-dimensional radiotherapy combined with concurrent chemotherapy can improve the overall survival, progression-free survival, recurrence-free survival, and distant metastasis-free survival of patients with stage IIb NPC. Intensity-modulated radiotherapy without concurrent chemotherapy also provides good outcomes for patients with stage IIb NPC. This article summarizes the features of stage IIb NPC and reviews the role of chemotherapy in this subgroup of NPC.
Antineoplastic Combined Chemotherapy Protocols
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therapeutic use
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Carcinoma
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Chemoradiotherapy
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Chemotherapy, Adjuvant
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Cisplatin
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administration & dosage
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Fluorouracil
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administration & dosage
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Humans
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Nasopharyngeal Neoplasms
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pathology
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therapy
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Neoadjuvant Therapy
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Neoplasm Staging
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Radiotherapy, Intensity-Modulated
9.Effects of histone acetylation on differentiation of mesenchymal stem cells.
Chinese Journal of Medical Genetics 2008;25(2):159-163
<p>OBJECTIVETo explore the effects of histone acetylation modification on the regulation of mesenchymal stem cells (MSCs) differentiation into cardiomyocytes in myocardium microenvironment, by detecting the acetylase activity, expression of histone acetylation gene Gcn5 and myocardial gene GATA4 in myocardium transplanted by MSCs transfected with plasmid ZJ3.p><p>METHODSExtracted the plasmid containing short hairpin RNA (shRNA) against Gcn5 gene (ZJ3) and transfected it into MSCs. After 24 hours, the MSCs were transplanted into the rat myocardium tissues and the acetylase activity, the expression of acetylation gene and myocardium development gene were detected after two weeks.p><p>RESULTSThe acetylase activity in the experimental group was significantly lower than all control groups; Gcn5 and GATA4 expression in myocardium of experimental group had significant reduction compared with the control groups.p><p>CONCLUSIONInhibition of histone acetylation in the MSC cells can inhibit the transcription process of specialized myocardium in the myocardium microenvironment. The result establishes foundation for researches of histone acetylation and mechanisms of MSCs differentiation.p>
Acetylation
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Animals
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Cell Differentiation
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genetics
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physiology
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Cells, Cultured
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Histone Acetyltransferases
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genetics
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Histones
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metabolism
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Mesenchymal Stromal Cells
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cytology
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metabolism
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RNA Interference
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Rats
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Rats, Sprague-Dawley
10.Short-term and long-term outcomes of uniportal versus three portal thoracoscopic radical resection of non-small cell lung cancer: A retrospective cohort study
Tian LI ; Gaoxiang WANG ; Guangwen XU ; Mingran XIE ; Xiaodong ZHU ; Junling JIAN ; Dongchun MA
Chinese Journal of Clinical Thoracic and Cardiovascular Surgery 2023;30(04):564-568
Objective To compare the short-term efficacy and long-term survival of patients with non-small cell lung cancer (NSCLC) treated by uniportal or three portal thoracoscopic radical resection. Methods A total of 388 patients who underwent uniportal or three portal thoracoscopic radical resection of lung cancer in the Department of Thoracic Surgery of Anhui Chest Hospital from 2015 to 2016 were analyzed retrospectively. The patients were divided into two groups including an uniportal group and a three portal group according to the procedure. The clinicopathological features, perioperative data and long-term survival of the two groups were compared. Results Finally, we included 205 patients with 105 males and 100 females at an average age of 58.73±10.93 years. There were 102 patients in the uniportal group and 103 patients in the three portal group. There was no statistical difference in clinicopathological features between the two groups (P>0.05). But compared with the three portal group, the uniportal group had less postoperative drainage, shorter postoperative catheterization time and postoperative hospital stay (P<0.05). There was no statistical difference in the number of lymph node dissection stations between the two groups (P=0.058). The pain score at 24 hours after operation in the uniportal group was significantly lower than that in the three portal group (P<0.001). There was no statistical difference in the total incidence of complications and the incidence of pulmonary complications between the two groups (P=0.161 and P=0.275). The median survival period and the 1st, 3rd, and 5th year survival rate in the uniportal group was 63.0 months and 95.0%, 75.2%, 51.5%, respectively. The median survival period and the 1st, 3rd, and 5th year survival rate in the three portal group was 61.0 months and 89.3%, 70.9%, 50.5%, respectively. There was no satistical difference in the survival results between the two groups (P=0.440). Conclusion Uniportal thoracoscopic radical resection of lung cancer is more minimally invasive and safe and effective in the treatment of NSCLC. It can make patients recover faster after operation.