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1.
Sci Rep ; 10(1): 17161, 2020 10 13.
Artigo em Inglês | MEDLINE | ID: mdl-33051518

RESUMO

To explore the prognostic value of three lymph node staging systems, including number of positive lymph nodes (pN), lymph node ratio (LNR), and log odds of positive lymph nodes (LODDS), in patients with pT3 stage esophageal squamous cell carcinoma (ESCC). Data from 1667 patients with pT3 stage ESCC who underwent surgical resection were reviewed. The log-rank test was used to assess the differences in overall survival (OS) between groups. Multivariate analysis was performed to identify independent prognostic factors. The receiver operating characteristic curve was used to assess the prognostic accuracy of the three staging methods. The median survival time for the entire group was 48.0 months, and the 1-, 3- and 5-year OS rates were 83.9%, 55.1% and 66.6%, respectively. All three lymph node staging systems were significantly correlated with OS in univariate and multivariate analyses. However, LNR and LODDS staging systems could more accurately predict survival than the pN staging system in patients with < 15 lymph nodes dissected, while LODDS have the best prognostic homogeneity. All three staging systems could be used for prognostic assessment in pT3 stage ESCC. But LODDS staging system might be superior to the others due to its prognostic homogeneity.


Assuntos
Neoplasias Esofágicas/patologia , Carcinoma de Células Escamosas do Esôfago/patologia , Linfonodos/patologia , Metástase Linfática/patologia , Adulto , Idoso , Idoso de 80 Anos ou mais , Feminino , Humanos , Estimativa de Kaplan-Meier , Masculino , Pessoa de Meia-Idade , Estadiamento de Neoplasias/métodos , Prognóstico , Curva ROC , Estudos Retrospectivos , Taxa de Sobrevida
2.
Zhongguo Shi Yan Xue Ye Xue Za Zhi ; 24(4): 1116-20, 2016 Aug.
Artigo em Chinês | MEDLINE | ID: mdl-27531785

RESUMO

OBJECTIVE: To investigate the hematologic characteristics and gene diagnosis of patients with Thailand deleted α-thalassemia 1, so as to provide the information for clinical genetic counseling. METHODS: The clinical data of 32 patients with Thailand delated α-thalassemia 1 were analyzed retrospectively; the hematologic characteristics and gene diagnosis of Thailand deleted type were investigated by using routine hematologic examination, genetic detection of common thalassemia and Thailand deleted α-thalassemia 1. RESULTS: Among 32 cases, the Thailand deleted α-thalassemia 1 heterozygote was found in 29 cases, the Thailand deleted α-thalassemia 1 and α(3.7) gene deletion double heterozygote were found in 1 case, the Thailand deleted α-thalassemia 1 with ß-thalassemia (1 case with codons 41-42 mutation heterozygous, 1 case with CD17 mutation heterozygous) was found in 2 cases by detection. The MCV and MCH levels were decreased in all cases of Thailand deleted thalassemia 1, there were significant differences in RBC, MCV, MCH (P<0.05) between normal control and Thailand deletion α-thalassemia 1 group; there were also significant differences in MCHC (P<0.05) between Southeast asia thalassemia and Thailand deleted α-thalassemia 1 group. CONCLUSION: There are no significant differences in hematological parameters except MCHC between Southeast asia thalassemia and Thailand deleted α-thalassemia 1 group. moreover the Thailand deleted α-thalassemia 1 in a certain proportion exists in area with high incidence of thalassemia, therefor the clinicians should pay more attention to the screen and diagnosis of Thailand delated α-thalassemia and can exactly diagnose the Thailand delected α-thalassemia 1 on the basis of comprehensive analysis of conventional and Thailand delected α-thalassemia 1 detection results, clinical presentation, hematologic parameters and ultrasonic examination, so as to avoid the birth of child with severe and intermidiate type α-thalassemia caused by Thailand deleted α-thalassemia 1.


Assuntos
Talassemia alfa , Deleção de Genes , Heterozigoto , Humanos , Mutação , Fenótipo , Tailândia , Talassemia beta
3.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 30(4): 403-6, 2013 Aug.
Artigo em Chinês | MEDLINE | ID: mdl-23926004

RESUMO

OBJECTIVE: To investigate the gene prevalence and spectrum of alpha- and beta-thalassemia in Fujian province. METHODS: A total of 11 234 of neonatal cord blood samples were collected for a prevalence study of alpha- and beta-thalassemia. All subjects included in this study were registered in 9 cities of Fujian province. A complete blood count and high performance liquid chromatography (HPLC) were performed in all samples, with microcytosis (MCV≤ 79 f1 and MCH≤ 27 pg) or HPLC positive cases further studied by DNA analysis. alpha- and beta-thalassemia were determined by using gap-PCR and reverse dot blot (RDB) assays. Unknown positive samples were analyzed directly with DNA sequencing. RESULTS: Of all 11 234 cord blood samples, 356 were identified as from alpha-thalassemia gene carriers, 7 deletion genotypes were identified including 236 (--SEA/ α α) cases, 67 (α 3.7/ α α) cases, 24 (alpha 4.2/alpha alpha) cases, 3 (alpha 3.7/ SEA) cases, 1 (alpha 4.2/ SEA) cases, 1 (alpha 3.7/ alpha 3.7) cases, 1 (alpha 3.7/ alpha 4.2) cases; 3 non-deletion genotypes were detected, including 7 (alpha alpha QS/ alpha alpha) cases, 3 (α α CS/α α) cases, 2 (α α WS/ α α) cases, the most common mutation was SEA/α α, which accounted for 66.29%, 148 individuals were found to have beta-hemoglobin gene mutations. 12 different mutations were identified, namely 65 IVS-2 654 (C>T) cases, 40 CD41-42(-TCTT, 12 CD17(A>T) cases, 10 -28(A>G) cases,7 CD27-28(+C) cases, 5 start codon ATG>AGG cases, 2 CD26(G>A) cases, 1 CD71-72(+A) cases, 1 IVS-1-1(G>T) cases, 1 CD43(G>T) cases, 2 -29(A>G) cases, 2 Codon 36 (-C) cases, the most common mutation was IVS-2 654(C>T) and CD41-42(-TCTT), which accounted for 70.95%. A novel beta-globin gene mutation CD36 (-C) allele was also detected. The carrier rate of thalassemia in Fujian population is 4.41%. In addition, 9 beta-thalassemia carriers were found with alpha-thalassemia mutation. CONCLUSION: The research has revealed the type of gene mutations in alpha- and beta-talassemia in Fujian province. The beta-thalassemia mutations in Fujian province are complex, which were also obviously heterogeneous. This will significant value for screening the incidence, provide the valuable information for genetic counseling and prenatal diagnosis.


Assuntos
Talassemia alfa/epidemiologia , Talassemia alfa/genética , Talassemia beta/epidemiologia , Talassemia beta/genética , Adolescente , Adulto , China/epidemiologia , Feminino , Genótipo , Humanos , Masculino , Pessoa de Meia-Idade , Prevalência , Adulto Jovem , Globinas beta/genética
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