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OBJECTIVE@#To explore the correlation of genetic mutations and clinical features of myelodysplastic syndromes (MDS) with scores of Revised International Prognostic Scoring System (IPSS-R).@*METHODS@#Eighty-seven patients with de novo MDS were enrolled. Mutations of MDS-related genes and clinical features were used to determine the incidence and subtype of mutations. Clinical features and IPSS-R scores of the patients with high frequency mutations involving TET2, TP53, ASXL1, RUNX1 and SF3B1 genes were compared.@*RESULTS@#Fifty-four patients (62.1%) harbored at least one point mutation. The incidences of various mutations were significantly different, with the incidence of MDS-EB-2 being 100% and MDS-SLD being only 38.9%. Compared with the wild types, patients harboring mutations had higher lactate dehydrogenase, higher β2 microglobulin, higher percentage of bone marrow blast cells and lower hemoglobin levels (P=0.027, 0.05).@*CONCLUSION@#Genetic mutations are commonly found in MDS. MDS patients with mutations have unique clinical laboratory characteristics. Although the prognostic value of most genes is controversial, TP53 is an definite indicator of poor prognosis.
Subject(s)
Humans , DNA Mutational Analysis , Incidence , Mutation , Myelodysplastic Syndromes , Genetics , Prognosis , Tumor Suppressor Protein p53 , GeneticsABSTRACT
The molecular mechanism of diffuse large B cell lymphoma (DLBCL) has not been fully elucidated, and epigenetics plays an important role in its development. MicroRNAs (miRNAs) are important parts of epigenetics, which are involved in the occurrence and development of DLBCL. Relevant studies have found that miRNAs can not only be used as molecular diagnostic markers of DLBCL, but also be used to judge the prognosis and treatment effect of DLBCL.
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Objective@#To explore the correlation of genetic mutations and clinical features of myelodysplastic syndromes (MDS) with scores of Revised International Prognostic Scoring System (IPSS-R).@*Methods@#Eighty-seven patients with de novo MDS were enrolled. Mutations of MDS-related genes and clinical features were used to determine the incidence and subtype of mutations. Clinical features and IPSS-R scores of the patients with high frequency mutations involving TET2, TP53, ASXL1, RUNX1 and SF3B1 genes were compared.@*Results@#Fifty-four patients (62.1%) harbored at least one point mutation. The incidences of various mutations were significantly different, with the incidence of MDS-EB-2 being 100% and MDS-SLD being only 38.9%. Compared with the wild types, patients harboring mutations had higher lactate dehydrogenase, higher β2 microglobulin, higher percentage of bone marrow blast cells and lower hemoglobin levels (P=0.027, <0.01, <0.01, 0.046, respectively). The IPSS-R scores of MDS patients with mutations were significantly higher than the wild types (P<0.01). The IPSS-R scores of the TP53 mutation groups were 7.82±1.83, which was significantly higher than the control group (3.77±1.66, P<0.01). No difference was found between the IPSS-R between patients carrying TET2, ASXL1, RUNX1, and SF3B1 mutations or the wild types (P>0.05).@*Conclusion@#Genetic mutations are commonly found in MDS. MDS patients with mutations have unique clinical laboratory characteristics. Although the prognostic value of most genes is controversial, TP53 is an definite indicator of poor prognosis.
ABSTRACT
The molecular mechanism of diffuse large B cell lymphoma (DLBCL) has not been fully elucidated,and epigenetics plays an important role in its development.MicroRNAs (miRNAs) are important parts of epigenetics,which are involved in the occurrence and development of DLBCL.Relevant studies have found that miRNAs can not only be used as molecular diagnostic markers of DLBCL,but also be used to judge the prognosis and treatment effect of DLBCL.
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Monitoring the disease status of the patients with nonˉHodgkin lymphoma (NHL) at the molecular level is of great significance in the accurate individualized management. The novel next generation sequencingˉbased methods enable the quantitative detection of circulating tumor DNA (ctDNA) in peripheral blood with great sensitivity, which can overcome the shortages of biopsies and imaging scans. As a new biomarker of NHL, ctDNA provides the opportunity for disease genotyping, prognosis evaluation, therapeutic response and recurrence monitoring, which may ultimately improve the prognosis of NHL patients.
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AIM:To investigate the effect of miRNA-181a inhibition on the proliferation, migration and cell cycle of the human multiple myeloma cell line RPMI 8226.METHODS:Real-time PCR was used to detect miRNA-181a expression in serum samples from multiple myeloma or healthy subjects .After transfection with miRNA-181a inhibitor, the cell viability was examined by CCK-8 assay and colony formation assay .The cell migration ability was analyzed by wound healing assay .The cell cycle was detected by flow cytometry .Moreover , the protein level of cyclin D 1 and the phosphoryla-tion of PI3K and Akt were determined by Western blot .RESULTS:The expression of miRNA-181a was significantly in-creased in the serum from multiple myeloma patients as compared with healthy group .Inhibition of miRNA-181a expression by transfection with miRNA-181a inhibitor remarkably decreased the cell viability , migratory ability, the population of G0/G1 phase and cyclin D1 protein expression in the RPMI8226 cells.However, the population of S phase and the phosphory-lation of PI3K and Akt were reduced .CONCLUSION:Down-regulation of miRNA-181a inhibits the viability and migra-tory ability in the RPMI8226 cells via inhibition of cell cycle and PI 3K/Akt signaling pathway .
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Objective To investigate the effect of heroin abuse on attention switching. Methods Thirty-six Heroin abusers (33 males, 3 females) and 36 controls (32 males, 4 females) were enrolled in the study. Their cognitive function was tested by using the Switching Task, including Sustained Attention trials and Switching Attention trials. The reaction time and accuracy were recorded separately by the computer. Results The accuracy or reaction times were not signifi-cantly different between Switching Attention trial and Sustained Attention trial in heroin abusers, suggesting a lower Switch Costs value compared to the healthy controls [(19.7 ± 66.8) ms vs. (85.1 ± 92.4) ms]. The healthy controls showed faster reaction speed [Sustained Attention trial (695.3 ± 95.9) ms vs. Switching Attention trial (780.3 ± 93.3) ms, P<0.05] and higher accuracy [Sustained Attention trial (98.0%±2.2%) vs. Switching Attention trial (93.8%±5.0%), P<0.05] under the Sustained Attention trial. Compared with the healthy controls, the heroin abusers showed slower reaction speed [(791.6 ± 74.3) ms vs. (695.3±95.9) ms, P<0.05] and lower accuracy [(92.5%±8.4%) vs. (98.0%±2.2%), P<0.05] in Sus-tained Attention trial, but not in Switching Attention trial. Conclusions The present study has revealed absence of Switch Costs in heroin abusers, which may be related to the damage of heroin abusers in their Sustained Attention function.
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Objective To investigate the effect of state anxiety and trait anxiety on attentional orienting of heroin addicts. Methods State anxiety and trait anxiety was measured by State-Trait Anxiety Inventory (STAI). Forty heroin ad?dicts (36 males and 4 females) and 40 healthy controls (36 males and 4 females) participated in cue-target task. Atten?tional orienting and reorienting were measured in valid cue trials and invalid cue trails. Results Heroin addicts had sig?nificantly greater state anxiety [(42.65 ± 6.58) vs. (36.60 ± 8.91)] and trait anxiety [(44.43 ± 7.67) vs. (37.00 ± 8.63)] values than controls (P<0.05). The state anxiety was significantly correlated with orientation RT difference (r=-0.259, P=0.020) and disengaging/reorientation RT difference (r=0.333, P=0.003) in heroin addicts. Trait anxiety was also significantly cor?related with orientation RT difference (r=-0.248, P=0.026) and disengaging/reorientation RT difference (r=0.356, P=0.001) in heroin addicts. Conclusion Heroin addicts have significantly greater anxiety than healthy controls. Both their state anxiety and trait anxiety are associated with attentional orienting and disengaging/reorienting.