ABSTRACT
【Objective】 To retrospectively analyze the clinical manifestations, related laboratory examinations and gene mutation of 20 patients with congenital Fibrinogen disorders (CFD) admitted to our hospital from February 2017 to December 2021, so as to improve the understanding of CFD diagnosis. 【Methods】 Clinical characteristics and laboratory examination of 20 CFD patients were collected, and common secondary hypoFibrinemia factors were excluded. Gene sequencing was performed on all exons and flanks of FGA, FGB and FGG genes of 20 patients to find gene mutation sites. The peripheral blood genomic DNA was collected from the family members of two CFD patients, and the genes of the corresponding mutation sites of the proband were detected. 【Results】 The 20 CFD patients had no history of bleeding; 11 female patients had no history of spontaneous abortion; all 20 patients had reduced Fib and prolonged thrombin time (TT). There were 13 gene mutations of different types in 20 patients, among which 90% (18/20) were missense mutations, 5% (1/20) was deletion mutation, and 5% (1/20) was frameshift mutation. Seven patients (35%) had Arg35His mutation at site 104 of the FGA chain, among which 3 new gene mutations have not been reported in China. 【Conclusion】 Most CFD patients with mild or asymptomatic symptoms can be diagnosed by genetic testing and screening. FGA chain Arg35His is a mutation hotspot in this region, and all of them are Uyghur. Whether the mutation of this site is related to ethnicity needs to be confirmed by further studies.
ABSTRACT
Objective:To investigate the expression levels of CD4+ CD25+ FOXP3+ Treg cells and interleukin(IL)-10 in serum of patients with myelodysplastic syndrome (MDS) - refractory anemia (RA) and refractory hematopenia with multilineage dysplasia (RCMD), and to evaluate the effect of cyclosporine on CD4+ CD25+ FOXP3+ Treg cells in MDS patients.Methods:From January 2016 to January 2018, 25 MDS-RA and RCMD patients and 13 healthy controls were selected from people′s Hospital of Xinjiang Uygur Autonomous Region for retrospective analysis.The expression of CD4 + CD25 + Foxp3 + Treg and IL-10 in peripheral blood samples were detected by flow cytometry and enzyme-linked immunosorbent assay.The expression of CD4 + CD25 + Foxp3 + Treg and IL-10 in MDS-RA and RCMD patients before and 6 months after the treatment with CSA based immunosuppressive regimen was detected.Results:Of the 25 patients, 13 (52%) were effective and 12 (48%) were ineffective.The proportion of CD4 + CD25 + Foxp3 + Treg in CD4 + T cells of MDS group was significantly higher than that of healthy control group [(0.37 ± 0.10)% and (0.12 ± 0.06)% respectively, t= 2.02, P< 0.001]. The level of IL 10 in MDS group was significantly higher than that in healthy control group ((7.16±1.27) μg /L and (2.75 ± 1.06) μg /L, t= 2.03, P< 0.001). The ratio of CD4 + CD25 + Foxp3 + Treg cells in MDS group was lower than that in MDS Group ((0.15±0.06)% and (0.26±0.08%), t= 1.71, P< 0.001), and the level of IL 10 in MDS group was lower than that in MDS Group ((3.22±1.01) μg /L and (4.25±1.22) μg /L, t= 2.06, P= 0.030). The proportion of CD4 + CD25 + Foxp3 + Treg in peripheral blood of 25 MDS patients was positively correlated with the level of IL-10 expression ( r= 0.35, P= 0.02). Conclusion:The expression of CD4+ CD25+ FOXP3+ Treg cells and IL-10 increased in MDS patients increased, but decreased after cyclosporine treatment.
ABSTRACT
OBJECTIVE@#To investigate the expression level of miR-181b in CD19+ B lymphocytes of patients with chronic lymphocytic leukemia (CLL), to analyze the relationship between its expression and the prognosis of CLL patients, and to predict the potential target gene of miR-181b in CLL by using bioinformatics.@*METHODS@#Eight-four patients with CLL treated in People's Hospital of Xinjiang Uygur Autonomous Region from June 2013 to June 2018 were selected. and 20 healthy people were selected as control group. RNA was extracted from CD19+B lymphocytes of peripheral blood by magnetic bead sorting, the expression level of miR-181b was detected, and it's expression differences in different IPI groups were analyzed. The correlation between the expression level of miR-181b and PFS of CLL patients also was analyzed. miR-181b target genes were predicted by online database and literatures, and gene annotation analysis and relevant signal pathway analysis were performed for candidate target genes.@*RESULTS@#The expression level of miR-181b in CLL patients was significantly lower than that in control group (P＜0.01); The expression level of miR-181b in the low-risk group was higher than that in high-risk group and extremely high-risk group (P＜0.05), but there was no statistical difference between low-risk group and medium-risk group (P=1.00). The expression level of miR-181b in medium-risk group was higher than that in high-risk group and extremely high-risk group (P＜0.05), but there was no difference between high-risk group and extremely high-risk group (P=1.00). ROC curve results showed that the area under the curve (AUC) was 0.792 (P＜0.01).When the expression level of miR-181b was at the threshold value of 0.279, it showed a better sensitivity (62.9%) and specificity (91.8%). Survival analysis results suggested that compared with the high expression group, the miR-181b low expression group had poor PFS (log rank: P=0.047). Prediction of miR-181b by using the starBase, targetscan and picTar database and its combination with literature reports indicated that CARD11, ZFP36L1, RUNX1, NR4A3, ATP1B1, PUM1 and PLAG1 related with blood diseases, and up-regulated CARD11 and ZFP36L1 participated in lymphoid tumor formation by promoting cell proliferation and inhibiting cell aging.@*CONCLUSION@#The expression level of miR-181b in CLL group are significantly lower than that in the controls group, and the low expression of miR-181b relates with poor prognosis of CLL patients. Through bioinformatics prediction and combined with literature reports, it is speculated that CARD11 and ZFP36L1 as target genes of miR-181b may be participated in the occurrence and development of CLL. Further experiments are needed to verify this result.
Subject(s)
Humans , Apoptosis Regulatory Proteins , Cell Proliferation , Leukemia, Lymphocytic, Chronic, B-Cell , Genetics , MicroRNAs , PrognosisABSTRACT
Objective To explore the clinical and laboratory characteristics of chronic B lymphocyte proliferation disease (B-CLPD) without typical lymphoid proliferation. Methods The clinical records of patients with B-CLPD only characterized by pancytopenia form January 2007 to March 2016 in hematology department of Xinjiang Uygur Autonomous Region People ' s Hospital were collected, and the cell morphology, bone marrow pathology, cytogenetics and molecular characteristics were retrospectively analyzed. Results The median age of 11 patients was 68 years old. The lymphocyte ratio of peripheral blood smears in all patients increased in different level (0.36-0.68), but absolute lymphocyte count was normal or decreased (0.59×109-1.99×109). Lymphocyte-like plasma cell or small numbers of plasma cell can be seen in the bone marrow smears of 4 cases and lymphocytes with irregular burr-like protrusions were observed in 2 cases while there were no characteristic morphological changes in remained 5 cases. Immunophenotypical analysis showed that all patients expressed CD19, CD20, CD22, SmIg, not expressed CD5, CD10 which with scores of 0-2 according to chronic lymphocytic leukemia (CLL) points system;CD103, CD11C, CD25 and FMC7 were highly expressed in 2 cases while there were no characteristic expression in remaining cases. There were no abnormal karyotypes observed from the conventional cytogenetic and fluorescence in situ hybridization (FISH) analysis (both of IgH/CCND1, bcl-2/IgH were negative) in all patients. 8 patients were found IgH gene rearrangement, MYD88L256P and BRAF V600E was positive in 5 cases and 2 cases respectively. 5 cases were diagnosed as Waldenstrom macroglobulinemia, 3 cases were B-CLPD, 2 cases were hairy cell leukemia, 1 case was nodal marginal zone B-cell lymphoma after comprehensive analysis of their clinical and laboratory data. Conclusion Even if there are no increased peripheral blood lymphocytes in pancytopenia patients, it is necessary to perform bone marrow smears, immunophenotyping, IgH gene rearrangement, cytogenetics and other molecular laboratory tests to exclude B-CLPD, and reduce misdiagnosis.
ABSTRACT
Authors of the paper analyzed the motivation of building the healthy town,and interrelated the scientific aspects of such a town. It was found that this town of diversified resources and advantages had become small but beautiful,special and strong clustering and convergent by means of collecting high-end factors, selecting of essential health businesses and constructing an ecosystem of health industry clusters. Based on a definition of the government role,the paper described the innovation of health policy in view of policy supply.
ABSTRACT
Objective To study the biodistribution of 131 I-2'-deoxy-1-β-D-arabinofuranosy1-5-iodouracil (FIAU) in the rat middle cerebral artery occlusion model and the expression of thymidine kinase (TK) gene in brain tissue after gene-modified stem cell transplantation,and thus evaluate the possibility of further noninvasive monitoring of stem cell transplantation therapy in cerebral infarction.Methods Adenovirus recombinant Ad5-TK-intemal ribosome entry site-brain derived heurotrophic factor-enhanced green florecent protein(IRES-BDNF-EGFP) carrying TK-IRES-BDNF gene was prepared.Cerebral infarction model was established in rats by intraluminal middle cerebral artery occlusion with nylon monofilament.Gene modified bone marrow mesenchymal stem cells were transplanted via intraparenchymal route,lateral ventricle,carotid artery and tail vein,respectively.The normal rats were used as controls.131 I- FAU was prepared to be the tracer for biodistribution study and the ％ ID/g was calculated based on measurement of the tissue radioactivity counts.The expression of TK gene was evaluated by quantitative real-time PCR (QR-PCR) and Western blot analysis.Data were analyzed with independent-samples t-test,one-way analysis of variance (ANOVA) test,and Pearson linear correlation test.Results The ％ ID/g of infarcted brain tissue in the intraparenchymal group was 0.124 ± 0.013,which was significantly higher than that in lateral ventricle group (0.052 ±0.004),carotid artery group (0.061 ±0.002),tail vein group (0.059 ±0.005) and control group (0.005 ±0.001) (t =2.913 - 5.652,all P＜0.05),while there were no statistically significant differences among the other route transplanted groups ( t =0.694 - 1.448,all P ＞ 0.05 ).The differences of ％ ID/g between the infarcted and contralateral sides of brain tissue in all transplanted groups were statistically significant (t =9.004 - 15.734,all P ＜ 0.05 ),while there was no statistically significant difference of this parameter between both sides of brain tissue in control group (t =1.511,P =0.182).The expression of TK gene in intraparenchymal group was significantly higher than other groups (t =7.482 -12.371,all P ＜0.05).The expression levels ofTK gene on QR-PCR showed a positive correlation with ％ID/g of the brain tissue ( r =0.971,P ＜ 0.001 ).Similarly,the ratio of TK/β-actin by the Western blot analysis correlated with the ％ ID/g ( r =0.899,P =0.002 ).Conclusion Intraparenchymal route may be the way of choice for cell transplantation therapy of cerebral infarction.If suitable radionuclide tracer is available,PET or SPECT may be potentially used for noninvasive monitoring of stem cell transplantation in cerebral infarction in vivo.
ABSTRACT
Objective To study the effect of salmon calcitonin and physical therapy on lumbar spinal ste- nosis.Methods Eighty cases of lumbar spinal stenosis were divided into treatment and control groups.Physical therapy alone was given to the control group,but salmon calcitonin was injected intramuscularly in addition to phys- ical therapy for the patients in the treatment group.Visual analogue scale,range of motion (ROM),pain-free walking distance,tendon reflexes and functional independence measures (FIM) were observed to assess the re- sults.Results The VAS,ROM and walking distance of the treatment group improved more than those of the con- trol group,but the groups' tendon reflexes and FIM were similar.Conclusions Salmon caleitonin can reduce the symptoms of lumbar spinal stenosis,and it has special effects in relieving pain.