【摘要】 目的 對四川人群的13個短串聯重復(short tandem repeat,STR)基因座進行遺傳多態性調查。方法 310份血樣采自四川地區無血緣關系個體。Chelex法提取DNA,PCR復合擴增,自動基因分析儀電泳收集電泳結果數據,基因分型軟件進行樣本基因型分型。結果 13個STR基因座的基因型分布符合HardyWeinberg平衡。累計非父排除率和累計個人識別率為0.999 991 728和gt;0.999 999 999。結論 上述13個STR基因座的累計非父排除率和累計個人識別率較高,適合作為四川人群的遺傳標記,用于法醫學親權鑒定和個體識別等領域的研究。
【摘要】 目的 分析交叉抗原表達的急性白血病的臨床特征及緩解率。 方法 對2009年10月-2010年11月血液內科的210例交叉表達髓系和淋巴細胞系相關抗原的初治急性白血病患者的標本，采用流式細胞術檢測白血病細胞的免疫表型，根據免疫標記和FAB（French、American、Britain）分型進行分組，分析其異質性的生物學特征和影響緩解率的相關因素。 結果 210例急性白血病的FAB分型以AML-M1/M2（82例）和ALL（78例）為主；免疫分型以B淋巴細胞系和髓系混合表達多見（116例），其中CD34表達率高達91.4%（192例）， CD7表達率為50.5%（106例），且與CD34相關（P=0.04）；出現CD34、CD7、CD19三者共表達的患者緩解率較低（9.09%）。 結論 交叉抗原表達的急性白血病的診斷有賴于免疫分型的判斷，其分化抗原的表達類型是影響其緩解率的重要因素。【Abstract】 Objective To observe the clinical characters of acute leukemia with cross-lineage antigen expression and analyze the remission rate. Methods Between October 2009 and November 2010, 210 patients were diagnosed and classified by morphology. Cytochemistry and immunology were used to analyze the immunophenotype. According to the immunostaining relative factors and FAB (French, American, and Britain) phenotype standard, the samples were divided into several groups. The conical characters and relative factors of remission rate were analyzed. Results In 210 patients with cross-lineage antigen expression, AL, AML-M1/M2 (82 cases) and ALL (78 cases) were common in FAB phenotype,and cross-lineage of B lineage and myelolineage were common in immunotype (116 cases). CD34 got the highest expression frequency of all (192 cases),and had the most important effect on patients′ prognosis. CD7 was also positive commonly (106 cases) and related with CD34 (P=0.04). So it′s significant for the outcome. The patients who got co-expression of CD34, CD7 and CD19 had worse prognoses. Conclusions Acute leukemia with cross-lineage antigen expression is a special type and is confirmed by immunotype. Furthermore, expression types of differentiation antigen are critical for the prognosis.
ObjectiveTo investigate the association between tumor necrosis factor (TNF)-α gene polymorphism and susceptibility to chronic obstructive pulmonary disease (COPD) in eastern Heilongjiang province.MethodsA total of 347 COPD patients in the Department of Respiratory Medicine, the First Affiliated Hospital of Jiamusi University, were enrolled from January 2016 to January 2017. In the same period, 338 healthy subjects in the hospital physical examination center were selected as controls. The genotype of the two groups was analyzed by high resolution melting (HRM) and gene sequencing. The genotype and allele probability of the two groups were compared and analyzed by the SHEsis genetic imbalance haplotype analysis.ResultsBoth TNF-a –308 G/A co-dominant model and recessive model have significant differences between COPD patients and healthy subjects (P=0.036, OR 1.512, 95%CI 1.023 – 2.234; P=0.027, OR 1.202, 95%CI 1.024 – 1.741). –850G/A co-dominant model (P=0.000, OR 1.781, 95%CI 1.363 – 2.329), dominant model (P=0.000, OR 0.391 7, 95%CI 1.363 – 2.329) and hyper-dominant model (P=0.000, OR 2.680, 95%CI 1.728 – 4.156) in the two groups were statistically different. The haploid analysis and haploid genotype analysis showed statistically significant differences (all P<0.05, OR>1, 95%CI>1) at +489, –308, –850 sites by allele A, G, A, respectively between the two groups. There was a significant difference in the lung function between the –308G/A, –863C/A mutant genome and the wild type (P=0.038, P=0.02) in COPD patients according to the classification of lung function.ConclusionsA allele in TNF-α –308 and G allele in TNF-α –850 locus may be risk factors for COPD in the eastern Heilongjiang Province, and the risk of homozygous genotype is higher. +489A, –308G and –850A respectively may be the predisposing factor of COPD while the three genotypes of AGA patients were at higher risk. TNF-α –308 A allele and –863 A allele are related to lung function deterioration, and the two sites with A allele in patients with COPD indicate poor lung function.
ObjectiveTo investigate the effectiveness of fixation the posterior malleolus or not to treat different Haraguchi’s classification of posterior malleolus fractures.MethodsThe clinical data of 86 trimalleolar fracture patients who were admitted between January 2015 and September 2019 and met the selection criteria were retrospectively reviewed. There were 29 males and 57 females; the age ranged from 26 to 82 years with a mean age of 55.2 years. According to Haraguchi’s classification, 38 patients were in type Ⅰ group, 30 patients in type Ⅱ group, and 18 patients in type Ⅲ group. There was no significant difference in the general data such as gender, age, and fracture location among the 3 groups (P>0.05). The fixation of the posterior malleolus was performed in 23, 21, and 5 patients in type Ⅰ, Ⅱ, and Ⅲ groups, respectively. The operation time, fracture healing time, full weight-bearing time, postoperative joint flatness, and joint degeneration degree of the patients in each group were recorded and compared. The American Orthopedic Foot and Ankle Society (AOFAS) ankle and hindfoot score was used to evaluate ankle function, including pain, quality of daily life, joint range of motion, and joint stability. The AOFAS scores were compared between fixation and non-fixation groups in each group.ResultsThe procedure was successfully completed by all patients in each group, and there was no significant difference in operation time (F=3.677, P=0.159). All patients were followed up 12-36 months with a mean time of 16.8 months. At last follow-up, 6 patients were found to have suboptimal ankle planarity, including 2 patients (5.3%) in the type Ⅰ group and 4 patients (13.3%) in the type Ⅱ group, with no significant difference between groups (χ2=6.566, P=0.161). The ankle joints of all the patients in each group showed mild degeneration; the fractures all healed well and no delayed union or nonunion occurred. There was no significant difference in the fracture healing time and full weight-bearing time between groups (P>0.05). No complications such as incision infection, fracture displacement, or plate screw loosening and fracture occurred during follow-up. At last follow-up, the total scores and pain scores of the AOFAS scores in the type Ⅱ group were significantly lower than those in the type Ⅰand Ⅲ groups (P<0.05), there was no significant difference between groups in the scores for the quality of daily life, joint range of motion, and joint stability between groups (P>0.05). There was no significant difference in any of the scores between the unfixed and fixed groups, except for the pain and quality of daily life scores, which were significantly lower (P<0.05) in the unfixed group of type Ⅱ group than the fixed group.ConclusionHaraguchi type Ⅱ posterior malleolus fractures have a worse prognosis than types Ⅰ and Ⅲ fractures, especially in terms of postoperative pain, which can be significantly improved by fixing the posterior malleolus; the presence or absence of posterior malleolus fixation in types Ⅰ and Ⅲ has less influence on prognosis.
Objective To investigate the relationship between systolic blood pressure (SBP) and etiological subtype in patients with cerebral infarction. Methods Retrospective analysis was made on the data of patients with cerebral infarction admitted to West China Hospital of Sichuan University between January 2015 and March 2018. Patients within 24 h of symptom were included. Etiological subtypes were classified according to Trial of Org 10172 in Acute Stroke Treatment criteria. Multinomial logistic regression was used to analyze the correlation between SBP at admission and etiological subtype. Results A total of 944 eligible cases were included, accounting for 37.3% (944/2528) of the total number of registered cases. The mean age was (65.35±14.17) years, and 57.5% (543/944) were male. The median time from onset to admission was 15 h, with 54.7% (516/944) of patients having elevated blood pressure. Among the patients, large artery atherosclerosis, small artery occlusion, cardiogenic embolism, other definite causes and undetermined causes accounted for 24.9% (235 cases), 21.2% (200 cases), 20.0% (189 cases), 1.8% (17 cases), and 32.1% (303 cases), respectively. Multinomial analysis showed that there was a significant negative correlation between SBP at admission and cardioembolic etiology [odds ratio (OR)=0.987, 95% confidence interval (CI) (0.977, 0.998)]; normal SBP at admission [<140 mm Hg (1 mm Hg=0.133 kPa)] was significantly positively correlated with cardioembolic etiology [OR=2.016, 95%CI (1.211, 3.357)]. Conclusion Normal SBP at admission with acute cerebral infarction predicts cardioembolic etiology, which will be helpful for clinicians to make individual decision based on the pathogenesis in the early stage.
ObjectiveTo explore the correlation between lipid profile and molecular typing of invasive breast cancer.MethodsThree hundreds and seventy-five patients with primary invasive breast cancer diagnosed from Breast Surgery, Affiliated Hospital of Southwest Medical University from January 2018 to June 2019. The total cholesterol (TC), triglycerides (TG), high-density lipoprotein cholesterol (HDL-C), Low-density lipoprotein cholesterol (LDL-C), apolipoprotein A (ApoA), and apolipoprotein B (ApoB) concentrations were detected. Molecular classification based on the results of postoperative immunohistochemistry of breast cancer patients, compared the measured values of each subtype.ResultsThere were no significant difference in serum TG, HDL-C and ApoA among the four subtypes (P>0.05). Differences serum levels of TC, LDL-C, and ApoB among breast cancer patients of various subtypes were statistically significant (P<0.05). Serum TC concentration in the HER2 overexpression type [(5.08±1.00) mmol/L] and the triple negative type [(5.12±0.91) mmol/L] were significantly higher than the Luminal A type [(4.68±1.01) mmol/L] and the Luminal B type [(4.79± 0.93) mmol/L], P<0.05. Serum LDL-C concentration in the triple negative type [(3.14±0.88) mmol/L] was significantly higher than the LuminalA type [(2.77±0.84) mmol/L] and the LuminalB type [(2.87±0.81) mmol/L], P<0.05. Serum ApoB concentration in the Luminal B type [(0.94±0.23) g/L] was significantly lower than the triple negative type [(1.03±0.23) g/L].ConclusionThere are differences in serum TC, LDL-C and apoB concentrations among different subtypes of breast cancer, but TG, HDL-C and ApoA are not related to molecular typing of breast cancer.
Objective To improve the precision of subsegmentectomy, through analyzing the proportion and classification of the intrasegmental and intersegmental trans-subsegmental artery (TSA) in the right upper lobe. Methods The imaging data of the patients who underwent pulmonary angiography in the right upper lobe from January 2021 to June 2022 at the Department of Thoracic Surgery, the First Affiliated Hospital of Nanjing Medical University were retrospectively analyzed. The anatomy of subsegmental bronchi and arteries in the right upper lung was studied by comparing 3D CT bronchography and angiography and thin-section CT (lung window). The types of tans-subsegmental artery were further refined. Results Finally 111 patients were collected, including 36 males and 75 females with an average age of 61.83±8.91 years. There were 29 types of TSA in the right upper pulmonary artery, and 45% (13/29) of the types occurred only once. In the S1, S2, and S3 segments, the proportion of TSA was 52% (58/111), 41% (45/111), and 32% (36/111), respectively. Among them, the type with the highest proportion was A1b+A1at in S1, originating from the upper trunk artery, accounting for 67% (39/58). There were 24% (27/111), 5% (5/111), and 8% (9/111) TSA between S1 and S2, S2 and S3, and S1 and S3, respectively. There were four types of bronchi in the right upper lobe. There was no statistical difference in the proportion of the intrasegmental and intersegmental TSA (P>0.05). Conclusion The TSA in the right upper lobe is common and has various types. Segmentectomy or subsegmentectomy is a highly personalized surgical procedure.