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Our previous investigation suggested that faster seventh cervical nerve (C7) regeneration occurs in patients with cerebral injury undergoing contralateral C7 transfer. This finding needed further verification, and the mechanism remained largely unknown. Here, Tinel’s test revealed faster C7 regeneration in patients with cerebral injury, which was further confirmed in mice by electrophysiological recordings and histological analysis. Furthermore, we identified an altered systemic inflammatory response that led to the transformation of macrophage polarization as a mechanism underlying the increased nerve regeneration in patients with cerebral injury. In mice, we showed that, as a contributing factor, serum amyloid protein A1 (SAA1) promoted C7 regeneration and interfered with macrophage polarization in vivo. Our results indicate that altered inflammation promotes the regenerative capacity of the C7 nerve by altering macrophage behavior. SAA1 may be a therapeutic target to improve the recovery of injured peripheral nerves.
ABSTRACT
Our previous investigation suggested that faster seventh cervical nerve (C7) regeneration occurs in patients with cerebral injury undergoing contralateral C7 transfer. This finding needed further verification, and the mechanism remained largely unknown. Here, Tinel's test revealed faster C7 regeneration in patients with cerebral injury, which was further confirmed in mice by electrophysiological recordings and histological analysis. Furthermore, we identified an altered systemic inflammatory response that led to the transformation of macrophage polarization as a mechanism underlying the increased nerve regeneration in patients with cerebral injury. In mice, we showed that, as a contributing factor, serum amyloid protein A1 (SAA1) promoted C7 regeneration and interfered with macrophage polarization in vivo. Our results indicate that altered inflammation promotes the regenerative capacity of the C7 nerve by altering macrophage behavior. SAA1 may be a therapeutic target to improve the recovery of injured peripheral nerves.
Subject(s)
Animals , Humans , Mice , Brachial Plexus , Brachial Plexus Neuropathies/surgery , Nerve Transfer , Peripheral Nerves , Spinal NervesABSTRACT
Isothermal amplification technology is a new class of nucleic acid amplification technology that performs amplification under constant temperature conditions. With the advantages of simple operation, high sensitivity and specificity, this kind of technology shows a good application prospect in clinical detection and scientific research. The principle, characteristics and applications of loop-mediated isothermal amplification(LAMP), crossing priming amplification (CPA),strand displacement amplification(SDA), recombinase polymerase amplification (RPA), nucleic acid sequence-based amplification (NASBA), rolling circle amplification (RCA) and helicase-dependent amplification (HDA) are reviewed in this paper.
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· AIM:To analyze the clinical features of binocular visual function in children with intermittent exotropia before and after operation,so as to provide theoretical basis for surgical treatment of intermittent exotropia.· METHODS:Enrolled forty patients with intermittent exotropia in our hospital from January 2016 to January 2017,in which 64 eyes received operation.All patients underwent surgical treatment and were followed up for 6wk,to compare the proportion of patients with Ⅰ,Ⅱ and Ⅲ of visual function before and after the treatment.Seeing WORTH four hole lamp near and far respectively were used to compare central and peripheral fusion before and at 2wk and 6wk after operation.Yan's random dot stereogram (Stereoscopic Test Charts,STC) was used to evaluate the near stereopsis,and synoptophore (STC) picture for distant stereopsis evaluation before and at 2wk and 6wk after operation.· RESULTS:There were 26 cases (65%),9 cases (22.5%),5 cases (12.5%) with preoperative vision function of Ⅰ,Ⅱ and Ⅲ respectively;10 cases (25%),17 cases (42.5%) and 13 cases (32.5%) at 2wk after operation;8 cases (20%),18 cases (45%),14 cases (35%) at 6wk after surgery;the differences between the proportion before and 2wk after operation,before and 6wk after operation were significant (P<0.05).WORTH four hole lamp examination showed preoperative proportion of patients with central fusion was significantly lower than that at 2wk and 6wk after surgery;the proportion at 2wk was significantly lower than that at 6wk after surgery,the difference was statistically significant (P<0.05).The proportion of patients with peripheral fusion at 2 and 6wk after operation was significantly higher than that before operation (P< 0.05),but the proportion at 2wk was not different from 6wk (P>0.05).The near stereopsis at 2 and 6wk after operation was significantly improved than that before operation (P< 0.05),but that at 2wk was not different from 6wk (P> 0.05).The proportion of patients with distant stereopsis at 2wk (24 cases,60%) and 6wk (39 cases,97.5%) after operation was significantly higher than that before operation (6 cases,15%,P<0.05),but the proportion at 2wk was not different from 6wk (P>0.05).· CONCLUSION:Intermittent exotropia correction surgery can significantly improve the binocular single vision and save the deterioration of patients with far,near stereopsis and central fusion.
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Objective@#To investigate the expressions of migration and invasion inhibitory protein (MIIP) and p21-activated kinase 1 (PAK1) in endometrial carcinoma (EC) and their correlation with clinicopathological features.@*Methods@#The protein levels of MIIP and PAK1 in 135 paraffin-embedded EC tissues, 55 atypical hyperplasia of endometrium (AHE) and 88 normal endometrium (NE) tissues were quantified by immunohistochemistry, the clincial significance and the relationship of these two proteins were also analyzed.@*Results@#The positive rates of MIIP expression in NE, AHE and EC tissues were 52.3%(46/88), 41.8% (23/55) and 34.8% (47/135), respectively. The expression of MIIP in EC was significantly lower than that of MIIP in NE (P<0.05). The positive rates of PAK1 expression in NE, AHE and EC tissues were 45.5% (40/88), 50.9% (28/55) and 62.2% (84/135), respectively. The expression of PAK1 in EC tissues was significantly higher than that of PAK1 in NE tissues (P<0.05). The expression of MIIP in EC tissues was significantly associated with myometrial invasion, International Federation of Gynaecology and Obstetrics (FIGO) stage and lymph node metastasis (P<0.05). The expression of PAK1 in EC tissues was significantly related with differentiation, myometrial invasion, FIGO stage and lymph node metastasis (P<0.05). The expressions of MIIP and PAK1 in EC tissues were marginally related with the overall survival of patients (P=0.092, P=0.052). The expression of MIIP in EC was negatively correlated with PAK1 (r=-0.329, P<0.001).@*Conclusions@#The down-regulation of MIIP and up-regualtion of PAK1 paticipate in the initiation and development of EC, which are correlated with the poor prognosis of EC. The protein expression of MIIP is inversely related with PAK1 in EC.
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AIM: To observe the effect and safety of applying mitomycin C ( MMC ) in laser - assisted subepithelial keratomileusis ( LASEK) for extreme high myopia. ●METHODS:LASEK with 0. 02% MMC was performed in 364 eyes of 182 patients with extreme high myopia and spherical equivalent was-9. 0 to-10. 25 D. All the patients were divided into four groups according to the applying time of MMC. The time in Group l was 10s, in GroupⅡwas 25s, in Group Ⅲ was 40s and 55s in Group lV. Uncorrected visual acuity ( UCVA ) , residual refraction, Haze, healing time of corneal epithelium, density and variant index of corneal endothelium was examined in these patients and follow-up 6mo. ●RESULTS:At 6mo after surgery, 76. 3%, 94. 0%, 92. 3%and 93. 8% of the patients in Group l, GroupⅡ, GroupⅢ and Group lV respectively achieved the UCVA better than 15/20. There was significant difference of UCVA between Group l and the other three groups (χ2=19. 610, P=0. 000). Proportion of the residual refraction between ± 0. 5D in Group l (78. 8%) was lower than other groups (95. 2% in Group Ⅱ, 93. 3% in Group Ⅲ, and 92. 7% in GroupⅣ) at 6mo and there was significant difference (χ2=16. 329, P=0. 001). Group l had more Haze statistically than the other three groups at 6mo postoperatively ( Hc=50. 110, P=0. 000). The healing time of cornea epithelium seem to be no statistically difference between each group at 6mo (χ2=11. 611, P>0. 05). MMC had no influence on the density of corneal endothelium in each group postoperatively (P>0. 05), there were 3071. 3±284. 4 cells/mm2 in Group l, 3 105. 6 ± 337. 8 cells/mm2 in Group Ⅱ, 2 986. 3 ± 304. 1cells/mm2 in Group Ⅲ and 3 088. 7 ± 372. 5 cells/mm2 in Group lV respectively. The variant index of corneal endothelium calculated in each group at 6mo after surgery was 24. 72 ± 6. 52, 22. 93 ± 6. 74, 24. 38 ± 6. 63 and 23. 14±7. 22 repectively, compare with that preoperatively there were no statistically differences (P>0. 05). ●CONCLUSION: For extreme high myopia LASEK with 0. 02% MMC is effective and safe. The MMC applying time of 25s in LASEK can effectively reduce Haze after surgery and decrease potential complications.
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To evaluate the safety and effectiveness of Shenbei Guchang capsules in treatment of diarrhea type irritable bowel syndrome (yang deficiency of spleen and kidney) under widely used conditions, an open, multicenter, controlled, phase Ⅳ clinical trial was conducted in the drug clinical trial centers of 16 domestic hospitals. 2 123 patients from June 10, 2011 to November 29, 2012 were enrolled in the trial. Drug clinical trial was approved by Sichuan Academy of Medical Sciences, Sichuan Provincial People's Hospital Ethics Committee before implementation. Before the start of trial, subjects were selected according to the research scheme and inclusion criteria, then they would step into the 14 d study after signing Informed Consent Form. All subjects were treated according to the research scheme, evaluated the conditions and filled in CFR sheet, to provide the evaluation data and information on safety and efficacy of Shenbei Guchang capsules. Shenbei Guchang capsules were used to treat diarrhea type irritable bowel syndrome in widely used conditions (2 123 cases), and 2 029 cases of them entered FAS set, cure+markedly effective in 1 921 cases, with a comprehensive curative effect rate of 94.68%; 2 010 cases of them entered PPS set, cure+markedly effective in 1 906 cases, with a comprehensive curative effect rate of 94.83%. The primary symptoms of IBS were abdominal pain and diarrhea. After treatment, both abdominal pain and diarrhea were improved, with significant differences (P<0.000 1). There were significant differences in traditional Chinese medicine symptom scores on both post-treatment day 7 and day 14 as compared with the conditions before treatment (P<0.000 1). 35 cases of adverse events occurred during the trial with an incidence of 1.65%, including 12 cases of drug-related adverse events (adverse reaction) with an incidence of 0.57%, mainly manifested as nausea, abdominal distension and dry mouth, most of which would be spontaneously relieved without any measures. No serious adverse events occurred. The commercially available Shenbei Guchang capsules are proved safe and effective for the treatment of diarrhea type irritable bowel syndrome (yang deficiency of spleen and kidney) under widely used conditions (2 123 cases), and can be continued for clinical promotion and application.
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AlM:To make a analysis of visual quality of iris location guided femtosecond laser assisted in situ keratomi ( LASlK) and iris location guided mechanical sub-bowman keratomileusis ( SBK) for high myopia treatment.METHODS:Femtosecond LASlK ( study group ) was performed in 102 eyes of 51 patients with high myopia and 70 eyes of 35 patients were received mechanical SBK ( control group ) from January to October 2013. The spherical refraction of all the patients was from -6. 00 ~-9. 50D. Best corrected visual acuity ( BCVA ) of the patients was ≥1. 0. Uncorrected visual acuity ( UCVA), BCVA, thickness of cornea flap, contrast sensitivity function ( CSF ) and senior ocular aberration were examined in these patients and follow-up was 1a.RESULTS: At 1a after surgery 94. 1% UCVA in study group reached ≥1. 0 and there was 94. 3% in control group. There was no significant difference between two groups (P>0. 05). Residual refraction of study group was-0. 08±0. 10 D and control group was -0. 10±0. 07 D. There was no significant difference of residual refraction between two groups (P>0. 05). C12 , C8 of senior ocular aberration and RMSH in study group was less than control group, amplification:0.1642±0.0519 and 0.2229±0.0382 (t=8. 077, P0. 05). C8 was 0. 0950±0. 069 and 0. 1858±0. 095 (t=7. 261, P0. 05). CONCLUSlON: Femtosecond LASlK and mechanical SBK is effective for high myopia. Compared to mechanical SBK, femtosecond LASlK shows more advantages in the senior ocular aberration and visual quality. The cornea flap is more regular from central to peripheral area with femtosecond laser.
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This study was aimed to enhance clinical understanding the effect of nilotinib on CML patients with V299L mutation who were resistant to imatinib. Bone marrow specimens from 2 cases of CML with V299L mutation were collected before and after the treatment with nilotinib. ABL mutation was detected by nested reverse transcription polymerase chain reaction (PCR) followed by direct sequencing. The clinical characteristics of the two cases were analyzed. The results showed that both cases were resistant to imatinib presented V299L mutation. Out of them 1 case achieved complete haematological response (CHR) after treatment with nilotinib for 6 months and another case abstained obvious molecular response after using nilotinib for 7 month. V299L mutation of both cases was turned into negative after the treatment with nilotinib. It is concluded that the nilotinib can safely and effectively override tyrosine kinase inhibitor (TKI) resistance mediated by the V299L mutation. The safety and efficacy of nilotinib for treatment of CML patients with TKI resistance and V299L mutation are satisfactory.
Subject(s)
Adult , Aged , Humans , Male , Benzamides , Pharmacology , Drug Resistance, Neoplasm , Genetics , Imatinib Mesylate , Leukemia, Myelogenous, Chronic, BCR-ABL Positive , Drug Therapy , Genetics , Mutation , Piperazines , Pharmacology , Pyrimidines , Pharmacology , Therapeutic UsesABSTRACT
This study was aimed to evaluate the efficacy and safety of dasatinib in BCR/ABL positive leukemia patients with primary or secondary resistance to imatinib. 27 patients with primary or secondary imatinib-resistant chronic myelogenous leukemia (CML) or Philadelphia chromosome positive acute lymphocytic leukemia (Ph(+) ALL) received 100 - 140 mg/d dasatinib orally. Their overall survival and tolerance were evaluated. The results showed that the median duration of dasatinib therapy was 8 (1-66) months in the 27 imatinib-resistant BCR/ABL positive leukemia cases, with a median follow-up of 54 (3-75) months. After the dasatinib treatment, 88.8% of all the 27 cases achieved complete hematologic response (CHR), 29.6% of them achieved major cytogenetic response (mCyR), 37% of all achieved complete cytogenetic response (CCyR) and 18.5% cases achieved major molecular response (MMR). Patients who received dasatinib in progress of disease (CML-AP, CML-BC and bone marrow relapse Ph(+) ALL) had a lower CCyR rate than those in stable disease (CML-CP and bone marrow remission Ph(+) ALL) (P = 0.0377), and 3 - 4 grade adverse events occurred more frequently in progress of disease than that in stable disease. Overall survival of the patients who achieved CCyR after dasatinib therapy was statistically longer than those who did not achieve CCyR (63 m vs 9 m, P = 0.0126). The most common grade 3 - 4 adverse events during dasatinib therapy including hematology events such as thrombocytopenia (51.8%), neutropenia (48.1%), anemia (33.3%), and non-hematologic events such as pleural effusion (18.5%), pulmonary infection (18.5%), pericardial effusion (11.1%). The 3-4 grade adverse events occurred within 12 months from dasatinib therapy, and were mainly observed in patients with progress of disease. It is concluded that dasatinib is an effective drug in imatinib-resistant BCR/ABL positive leukemia patients, the better curative effect and better tolerance has been observed in patients who received dasatinib in stable disease.
Subject(s)
Adult , Aged , Female , Humans , Male , Middle Aged , Young Adult , Benzamides , Therapeutic Uses , Dasatinib , Drug Resistance, Neoplasm , Fusion Proteins, bcr-abl , Imatinib Mesylate , Leukemia, Myelogenous, Chronic, BCR-ABL Positive , Blood , Drug Therapy , Piperazines , Therapeutic Uses , Precursor Cell Lymphoblastic Leukemia-Lymphoma , Blood , Drug Therapy , Protein Kinase Inhibitors , Therapeutic Uses , Pyrimidines , Therapeutic Uses , Thiazoles , Therapeutic Uses , Treatment OutcomeABSTRACT
This study was aimed to detect the peripheral blood serum neopterin (Npt) level in the patients with hemophagocytic lymphohistiocytosis (HLH) and to explore its significance in HLH. The enzyme-linked immunosorbent assay (ELISA) was applied to detect the serum Npt level and sCD25 level in 20 HLH patients before and after treatment and 15 healthy controls. The results indicated that the serum Npt and sCD25 levels in HLH patients were significantly higher than those in healthy controls (P < 0.0001). The serum Npt and sCD25 levels in the HLH group decreased significantly after treatment, respectively (P < 0.0001). The correlation analysis of Npt with sCD25 before and after treatment showed that they had significant correlation (r = 0.81, P < 0.05 before treatment; r = 0.65, P < 0.05 after treatment). Meanwhile, the level of serum Npt and ferritin had a significant correlation in newly diagnosed HLH patients (r = 0.55, P < 0.05). It is concluded that the serum Npt may play an important role in the HLH pathogenesis, the enhancement of Npt levels has an important significance for diagnosis and evaluation for HLH.
Subject(s)
Adolescent , Adult , Aged , Female , Humans , Male , Middle Aged , Young Adult , Case-Control Studies , Enzyme-Linked Immunosorbent Assay , Lymphohistiocytosis, Hemophagocytic , Blood , Diagnosis , Neopterin , BloodABSTRACT
<p><b>OBJECTIVE</b>To investigate SRSF2 mutations in patients with chronic myelomonocytic leukemia (CMML) and the clinical characteristics of patients with SRSF2 mutants.</p><p><b>METHODS</b>In this study, the frequency of SRSF2 mutation in a cohort of 20 patients with CMML was detected by polymerase chain reaction (PCR) followed by direct sequencing to couple with their clinical features.</p><p><b>RESULTS</b>Of 20 patients, 4 patients were found harboring SRSF2 mutations, including 2 P95L, 1 P95H and 1 P95R point mutations. There were no significantly statistical differences in terms of their clinical characteristics between mutant and wild type group.</p><p><b>CONCLUSION</b>SRSF2 mutation was not frequently occurred in CMML patients and might associated with poor prognosis. It might be a practically diagnostic maker and therapeutic target in CMML.</p>
Subject(s)
Adult , Aged , Female , Humans , Male , Middle Aged , DNA Mutational Analysis , Genotype , Leukemia, Myelomonocytic, Chronic , Genetics , Mutation , Nuclear Proteins , Genetics , Prognosis , Ribonucleoproteins , Genetics , Serine-Arginine Splicing FactorsABSTRACT
This study was purposed to investigate the incidence of mixed lineage leukemia (MLL) gene rearrangement and partner gene types as well as the clinical features and prognosis of acute leukemia (AL) with this rearrangement through detection in adult AL using combination of 3 techniques, and to evaluate the clinical value of this combination detection. The MLL gene rearrangement in 183 cases of adult AL was detected by combination of conventional cytogenetics, split signal FISH and multiplex nested PCR. The results showed that the incidence of MLL rearrangements in adult patients with AL was low (8.2%), and MLL-AF4 fusion gene was most common and predominant in acute lymphoblastic leukemia (ALL), while the MLL-AF6 and MLL-AF9 were most frequent in acute myeloid leukemia (AML). Extramedullary involvements were found in 40% of MLL-rearranged AL patients, and 33.3% of patients with MLL-rearranged AL reached to complete remission within 30 days during induction chemotherapy. In addition, in this cohort of MLL-rearranged adult AL patients, the 3-month relapse rate and 6-month overall survival rate were 50.0% and 50.0% respectively. It is concluded that the rate of missed diagnosis of CC technique for patients with MLL-rearranged AL reached to 60% in this study, while the combination of CC, FISH and multiplex nested PCR has been confirmed to have important significance for evaluating prognosis and conducting clinical therapy of patients with MLL-rearranged AL.
Subject(s)
Adolescent , Adult , Aged , Female , Humans , Male , Middle Aged , Young Adult , Gene Rearrangement , Leukemia, Myeloid, Acute , Genetics , Myeloid-Lymphoid Leukemia Protein , Genetics , Oncogene Proteins, Fusion , GeneticsABSTRACT
This study was purposed to investigate the mutational status of DNA methyltransferase (DNMT3a) gene and the clinical features of AML patients with DNMT3a mutations. Using PCR combined with directly sequencing, the somatic mutations of DNMT3a involving residue of amino acid 882 were detected in 77 AML patients. Furthermore, the clinical features of these patients were also studied. The results showed that the DNMT3a mutation were detected in 7 out of 59 patients with de novo AML (11.9%), which included 4 patients with DNMT3a R882C, 2 patients with DNMT3a R882H and 1 patient with DNMT3a Y874C. Morphology examination indicated that 2 patients were M(2), 1 patient was M(4) and 4 patients were M(5). Cytogenetic analysis revealed that karyotype in 5 out of 7 patients with DNMT3a mutation were normal. In total of 27 patients with normal karyotype 5 patients (22.7%) were found harboring DNMT3a mutation, while no DNMT3a mutation was found in 21 patients with abnormal karyotype. The mutation rate in patients with positive CEBPA was obviously higher than that in patients with negative CEBPA (p = 0.002). Immunophenotype analysis showed that 4 patients (4/7, 57.1%) with DNMT3a mutation expressed lymphoid antigens including CD4 or/and CD7. There were no statistical significance in age, gender, blast cells of bone marrow, white blood cell and platelet counts, hemoglobin level, ratio of CR, mutations of FLT3-ITD, NPM1 and c-kit between patients with DNMT3a mutation and patients with wild DNMT3a (p > 0.05). It is concluded that the DNMT3a mutations are more prevalent in AML patients with normal karyotype accompanying with positive NPM1 and/or CEBPA mutation, the role of DNMT3a mutation in AML prognosis needs to be further studied.
Subject(s)
Adolescent , Adult , Aged , Aged, 80 and over , Child , Female , Humans , Male , Middle Aged , Young Adult , CCAAT-Enhancer-Binding Proteins , Genetics , DNA (Cytosine-5-)-Methyltransferases , Genetics , Leukemia, Myeloid, Acute , Genetics , Mutation , Nuclear Proteins , GeneticsABSTRACT
The purpose of this study was to identify point mutation of the isocitrate dehydrogenase gene (IDH1 and IDH2) in patients with acute myeloid leukemia(AML) and its clinical significance. 90 de novo AML patients were selected for this study, the genomic DNA was served as template, the exon4 of IDH1 and IDH2 were amplified respectively. The IDH mutation was detected by using directly sequencing method for PCR product. The results indicated that among 90 de novo AML patients, 4 patients (4.4%) showed the IDH1 gene mutation positive, and 7(7.8%) patients showed IDH2 gene mutation positive. None was found harboring both mutations, the overall rate of mutation positive of them was 12.2%. In the AML patients with IDH gene mutation positive, the rate of normal karyotype was 72.7%, which was significantly higher than that in abnormality karyotype. The CR rate in mutation positive patients was 72.7%, which seemed as if higher than that in mutation negative patients, but without statistical significance. The mutation disappeared when the patients gained CR, and reappeared in same loci after relapse occurred. It is concluded that the IDH gene point mutation appears in normal karyotype patients, especially in patients combined with NPM1 gene mutation. The IDH gene mutation may be an important target for therapy and evaluating clinical prognosis of patients with normal karyotype.
Subject(s)
Adolescent , Adult , Aged , Aged, 80 and over , Child , Female , Humans , Male , Middle Aged , Young Adult , Isocitrate Dehydrogenase , Genetics , Leukemia, Myeloid, Acute , Genetics , Mutation , PrognosisABSTRACT
ObjectiveTo explore clinical manifestations and CT performance characteristics of amalgamative AIDS tuberculosis. MethodsThe clinical data and CT manifestations of 28 patients who were already diagnosed with AIDS amalgamative tuberculosis were analyzed. ResultsThe common clinical manifestations of AIDS amalgamative tuberculosis: were cough, sputum, fever, night sweats, angular, difficult breathing, diarrhea, superficial lymph node enlargement,etc. The CT manifestations:were diffuse com grain of venereal change, the spot piece infiltrating kitchen,lung door ormediastinumlymphnodeenlargement, pleuraleffusion. Emptyandcalciticationwererare.ConclusionThe clinical manifestations and CT performance characteristics of amalgamative AIDS tuberculosis were not typical,whose performance was related with the body's immune state. When AIDS patients appoare diffuse lung in corn grain, spot piece infiltration sex pathological change focal, lung door or mediastinum lymph node enlargement, the possibility of amalgamative tuberculosis pleural effusion should first be diagnosed.
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This study was aimed to investigate the therapeutic efficacy of HLH-2004 chemotherapy in patients with secondary hemophagocytic lymphohistiocytosis (sHLH). 10 cases of sHLH treated with HLH-2004 regimen at our department were analyzed retrospectively. The results showed that 7 patients had clinical response to HLH-2004 regimen, while other 3 patients had no clinical response. 5 cases did not complete initial therapy of 8 weeks. Out of 5 cases, 4 died in the process of chemotherapy, 1 patient abandoned for serious side effects but finally acquired remission following 4 cycles of CHOP regimen. 5 cases underwent the whole courses of initial therapy. Out of 5 cases, 3 patients acquired remission, and other 2 were not well controlled. Out of the 3 patients who had achieved remission, one died of relapse, and other 2 patients kept remission. Out of the 2 patients who were not well controlled, one patient died, but another patient acquired remission after being discharged. It is concluded that patients with infection-associated hemophagocytic syndrome (IAHS) have high rates of remission after receiving HLH-2004 regimen combining with effective antibiotics. However, patients with HLH secondary to EBV (EBV-HLH) or lymphoma (LAHS) have low rates of remission or are easy to get relapse after remission.
Subject(s)
Adult , Female , Humans , Male , Middle Aged , Young Adult , Antineoplastic Combined Chemotherapy Protocols , Therapeutic Uses , Cyclophosphamide , Therapeutic Uses , Doxorubicin , Therapeutic Uses , Lymphohistiocytosis, Hemophagocytic , Drug Therapy , Prednisolone , Therapeutic Uses , Retrospective Studies , Treatment Outcome , Vincristine , Therapeutic UsesABSTRACT
Tet2 (the 2nd member of tet oncogene family) is a newly discovered antioncogene on the chromosome 4q24 of the patient with malignant myeloma, which has a potential for functional deletion. Recent studies demonstrated that tet2 mutation was found in polycythemia vera (PV), essential thrombocythemia (ET), myelofibrosis, systematic mastocytosis (SM), and myelodysplastic syndrome (MDS). However, a great number of perspective researches are still needed for exploring the role of tet2 in the pathogenesis of malignant blood diseases. In this review, the relation of tet2 mutation with myeloproliferative neoplasm, systemic mastocytosis, myelodysplastic syndrome, acute myeloid leukemia and other malignant blood diseases are summarized.
Subject(s)
Humans , DNA-Binding Proteins , Genetics , Hematologic Diseases , Genetics , Mutation , Myelodysplastic Syndromes , Genetics , Myeloproliferative Disorders , Genetics , Proto-Oncogene Proteins , GeneticsABSTRACT
In order to evaluate the incidence of CCAAT/enhancer binding protein alpha (cebpa) gene mutation in patients with acute myeloid leukemia (AML), 22 AML patients with normal karyotype (NK-AML) were enrolled in this study, including de novo AML and relapsed AML. The cebpa gene was amplified by 2 stages using genomic DNA as template, the cebpa gene mutation amplified product was detected by direct sequencing or clone sequencing. The results showed that the cebpa mutations including deletion and insertion were found in 4 out of 22 AML patients (18.2%) and all of these 4 patients were M(2). Two patients had N-terminal nonsense mutation and the other two had C-terminal in-frame mutation. It is concluded that PCR combined with direct sequencing and clone sequencing can be used to detect cebpa mutations. cebpa mutations are mainly identified in M(2) subtype of NK-AML patients, its significance for prognosis needs to further investigate.
Subject(s)
Adolescent , Adult , Aged , Female , Humans , Male , Middle Aged , Young Adult , CCAAT-Enhancer-Binding Protein-alpha , Genetics , Karyotyping , Leukemia, Myeloid, Acute , Genetics , Pathology , Mutation , Neoplasm StagingABSTRACT
This study was aimed to investigate the relationship between cytogenetic evolution and disease progression in patient with MDS-RAEB. By a long term (6 years) follow-up of a patient with MDS-RAEB, peripheral blood cell count, bone marrow cell morphology and conventional cytogenetics were monitored regularly. In addition, fluorescence in situ hybridization (FISH) was applied to confirm the aberrant karyotype. The results indicated that this patient was failed with conventional chemotherapy of AML, but had response to ATRA and 6-MP in the 72 months follow-up. At initial diagnosis, the cytogenetics analysis showed normal karyotype, whereas 46, XY, 2q+[1]/46, XY[19] was found at 48 months, 46, XY, dup(1q)[3]/46, XY[7] at 56 months, and dup (1) as well as der (11) with complex karyotype at 68 months, which was accompanied by progressive decrease of platelet count. It is concluded that karyotype evolution is perhaps associated with progression of MDS.