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Objective:To investigate the expression of WT1 gene in children with acute lymphoblastic leukemia (ALL), and explore its clinical characteristics and correlation with the prognosis of ALL.Methods:The clinical data of 183 children with newly diagnosed ALL in Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology from January 2015 to May 2019 were retrospectively analyzed. The expression level of WT1 gene in bone marrow samples was detected by real-time fluorescence quantitative polymerase chain reaction. The children were followed up to June 2021 with a median follow-up time of 46 months (0 to 63 months).Results:Among 183 children with ALL, the WT1 gene positive was in 130 cases (71.04%), and the expression level was 1.41% (0.26%, 6.73%); WT1 gene negative was in 53 cases (28.96%). The expression levels of WT1 gene in children with T-cell lymphoblastic leukemia (T-ALL), non-hyperdiploid and middle/high-risk were significantly increased, and there were statistical differences ( P<0.05 or <0.01); however, there were no statistical differences in the expression levels of WT1 gene between children with different gender, chromosome karyotype, hepatosplenomegaly and the first diagnosis white blood cell count ( P>0.05). There were no statistical differences in complete remission rate and recurrence rate after induction chemotherapy between WT1 gene positive children and WT1 gene negative children: 87.69% (114/130) vs. 86.79% (46/53) and 16.15% (21/130) vs. 18.87% (10/53), P>0.05. By the end of follow-up, 179 children were followed up, and there was no statistical difference in survival rate between WT1 gene positive children and WT1 gene negative children: 89.68% (113/126) vs. 86.79% (46/53), P>0.05. Among the children with WT1 gene positive, relapse was in 21 cases, and there was no statistical difference in the expression level of WT1 gene after complete remission or after relapse, compared with that while the first diagnosis ( P>0.05); among non-relapse children, 96 completed the detection, the expression level of WT1 gene after complete remission was significantly lower than the first diagnosis: 0.17% (0.04%, 0.49%) vs. 2.01% (0.41%, 8.82%), and there was statistical difference ( P<0.01). Kaplan-Meier survival curve analysis result showed there was no statistical difference in survival time between WT1 gene positive children and WT1 gene negative children ( P>0.05). According to the median expression level of WT1 gene (1.41%), the children with WT1 gene positive were divided into high expression (66 cases) and low expression (64 cases), there was no statistical difference in survival time between high expression children and low expression children ( P>0.05). Conclusions:WT1 gene is commonly expressed in children with ALL and is associated with some clinical features and prognosis of the children. Decreased WT1 gene expression may result in better prognosis.
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OBJECTIVE@#To report on a case with severe hemophilia A (HA) due to a large duplication of F8 gene.@*METHODS@#Inversion detection, Sanger sequencing, and multiplex ligation-dependent probe amplification (MLPA) were used to detect the mutation in the proband and his mother.@*RESULTS@#The patient, a 7-year-old boy, was diagnosed with severe HA at 8 months. No inhibitor was developed over 150 exposure days. Intronic inversion detection and Sanger sequencing have failed to identify pathogenic variants, while MLPA revealed a large duplication [Ex 1_22 dup (2 copies)] in the proband, for which his mother was a carrier [Ex 1_22 dup (3 copies)]. Large duplications of the F8 gene have so far been found in 24 HA patients, all of whom had a severe phenotype, only one had a history of inhibitors.@*CONCLUSION@#Large duplications of F8 gene are associated with severe HA. The diagnostic rate for HA may be increased by MLPA.
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Criança , Humanos , Masculino , Fator VIII/genética , Duplicação Gênica , Hemofilia A/genética , Íntrons , Mutação , FenótipoRESUMO
Objective:To investigate the clinical features of acute megakaryocytic leukemia (AMKL) in children.Methods:The clinical data of 14 children with AMKL in Tongji Hospital of Tongji Medical College of Huazhong University of Science and Technology from January 2012 to July 2021 were retrospectively analyzed, and the related literature was reviewed.Results:Among 14 children with AMKL, there were 5 males and 9 females, and the median age of onset was 19 months (0.1-109 months); 1 case was Down syndrome-related AMKL, and 13 cases were non-Down syndrome-related AMKL. Most of the children presented with fever, anemia or bleeding symptoms, and a few patients presented with joint pain as the primary symptom. Some children were accompanied by extramedullary infiltration such as hepatomegaly, splenomegaly or lymphadenovarix. Initial investigations of 14 children showed that the median white blood count, hemoglobin concentration and platelet count were 10.67×10 9/L [(6.56-83.62)×10 9/L], 84 g/L (55-121 g/L), 37×10 9/L [(8-1443) ×10 9/L], respectively, and the median proportion of naive cells in peripheral blood was 0.09 (0.00-0.79). Bone marrow smear showed that the primitive megakaryocytes were characterized by various size and irregular form, a few of which had cytoplasmic vacuoles, and the median proportion of bone marrow primitive megakaryocytes was 0.636 (0.332-0.976); the nuclei were round or irregular, with multiple nucleoli or hidden nucleoli. RAS staining was partially positive, and immunohistochemical assay showed that POX, AS-DNCE and α-NBE were negative. Detection of megakaryocyte-associated antigens by flow cytometry showed 12 children expressed CD41a or CD61, and 10 children expressed CD42b. Among 3 children who completed chemotherapy, 1 case of Down syndrome-related AMKL and 1 case of non-Down syndrome-related AMKL were event-free survival, and 1 case of non-Down syndrome-related AMKL died after bone marrow relapse. Conclusions:The clinical manifestations and biological characteristics of children with AMKL are complicated and the prognosis is poor. Some children can achieve disease-free survival through chemotherapy alone.
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Objective:To investigate the influencing factors of delayed methotrexate (MTX) elimination after high-dose methotrexate (HD-MTX) treatment in children with acute lymphoblastic leukemia (ALL) and the effects of delayed MTX elimination and HD-MTX reduction on the prognosis of children with ALL.Methods:The clinical data of 242 children with ALL diagnosed and treated in Tongji Hospital of Tongji Medical College of Huazhong University of Science and Technology from January 2015 to June 2020 in accordance with the Chinese Children's Cancer Group study ALL 2015 (CCCG-ALL 2015) were retrospectively analyzed. Low risk and intermediate/high risk children respectively received 3 g/m 2 and 5 g/m 2 HD-MTX for 4 times, and the serum MTX concentration was monitored. The serum MTX concentration > 1 μmol/L at 44 h of administration was considered as the delayed elimination, which was divided into mild (> 1 μmol/L and ≤ 5 μmol/L), moderate (> 5 μmol/L and ≤ 10 μmol/L) and severe (> 10 μmol/L) delayed elimination. Univariate and multivariate logistic regression analysis were used to analyze the influencing factors of delayed MTX elimination, and univariate Cox proportional hazards model was used to analyze the related factors of ALL relapse. Results:The 242 children with ALL completed 962 times of HD-MTX chemotherapy. The median serum MTX concentration [ M ( Q1, Q3)] at 44 h of administration was 0.45 μmol/L (0.33 μmol/L, 0.72 μmol/L). The total incidence of delayed MTX elimination was 17.7% (170/962). The incidence of mild, moderate and severe delayed elimination was 13.8% (133/962), 2.6% (25/962) and 1.2% (12/962), respectively. Logistic regression analysis showed that age ≥ 7 years old ( OR = 1.68, 95% CI 1.17-2.41, P = 0.005), MTX dose >3 g/m 2 at each course ( OR = 2.14, 95% CI 1.52-3.03, P < 0.001) and the first course of HD-MTX chemotherapy ( OR = 2.05, 95% CI 1.43-2.93, P < 0.001) were independent risk factors for delayed MTX elimination. The median follow-up time was 50 months (34 months, 68 months), 12.8% (31/242) of the children relapsed, and the median relapse time was 30 months (30 months, 39 months). Univariate Cox regression analysis showed that there were no significant differences in the relapse rates among children with different gender, immunophenotype, risk, the number of delayed MTX elimination, and the completion of HD-MTX chemotherapy (the ratio of MTX average dose to initial planned dose) (all P > 0.05). Conclusions:The independent risk factors of delayed elimination of MTX in children with ALL are age ≥ 7 years old, MTX dose > 3 g/m 2 at each course and the first course of HD-MTX chemotherapy. Delayed elimination of MTX and reduction of HD-MTX have no significant effect on ALL relapse.
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Objective:To explore the clinical features and prognosis of childhood acute lymphoblastic leukemia(ALL) complicated with EB virus (EBV) infection.Methods:The results of detection of EBV antibody and EBV-DNA in peripheral blood mononuclear cells of 196 children with ALL diagnosed in Tongji Hospital Affiliated to Tongji Medical College of Huazhong University of Science and Technology from January 2015 to January 2019 were collected. According to the results, 196 children with ALL were divided into EBV infection group and non-EBV infection group. The hepatomegaly and splenomegaly, chromosome, peripheral blood routine, immunophenotyping, clinical risk, secondary infection during chemotherapy, minimal residual disease (MRD) of day 46 after chemotherapy, karyotype, and prognosis were compared between the two groups. The children were followed up until April 30, 2019.Results:Among 196 children with ALL, EBV infection rate was 72.96% (143/196). The EBV-DNA level [median ( P25, P75)] of peripheral blood mononuclear cells was 3.7×10 3 copies/L(1.6×10 3 copies/L, 8.8×10 3 copies/L). The incidence of hepatosplenomegaly (subcostal ≥ 5 cm) in EBV infection group was higher than that in non-EBV infected group [14.69% (21/143) vs. 3.77% (2/53), χ 2= 4.45, P= 0.035]. There was no significant difference in the number of white blood cells and the incidence of abnormal karyotype between EBV infection group and non-EBV infection group (both P > 0.05). The secondary infection rate in EBV infection group was higher than that in the non-EBV infection group [41.96% (60/143) vs.24.53% (13/53), χ2= 5.03, P= 0.025], and the remission rate of day 46 in EBV-infection group was lower than that in non-EBV infection group [80.42% (115/143) vs. 98.11% (52/53), χ2= 9.60, P= 0.020]. The recurrence rate in EBV-infection group was higher than that in non-EBV infectious group [11.89% (17/143) vs. 1.89% (1/53), χ2= 4.64, P= 0.031], and there was a significant difference in the component ratio of immunophenotyping and clinical risk between the two groups (both P < 0.05). Conclusions:The hepatosplenomegaly in children with ALL complicated with EBV infection is obvious, the secondary infection rate is high, the remission rate is low, the recurrence rate is high, and the prognosis is poor. EBV infection may be related to immunophenotyping and clinical risk in children with ALL, and has nothing to do with the abnormal karyotypes.
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Objective@#To explore the efficacy of percutaneous vertebroplasty (PVP) in the treatment of osteoporotic vertebral compression fractures (OVCF).@*Methods@#A retrospective analysis of 76 patients with OVCF treated with single and double pedicle approach PVP from April 2016 to June 2017 in the First Affiliated Hospital of He′nan University was conducted.According to the operation method, the patients were divided into unilateral group (42 patients, unilateral pedicle approach), and bilateral group (34 cases, bilateral pedicle approach). The operation time, number of intraoperative X-rays, amount of bone cement injection, height of the vertebral body and the complications were compared between the two groups.The visual analogue scale (VAS) and the Oswestry dysfunction index(ODI) score were used to assess the recovery of the patients.@*Results@#The unilateral group had less operative time[(33.01±3.78)min], intraoperative X-ray number[(22.06±3.85) times]and bone cement injection[(3.53±0.42) mL] compared with the bilateral group (t=8.54, 5.98, 4.74, all P<0.05). There were no statistically significant differences in the recovery of vertebral height and complications between the two groups (all P>0.05). The postoperative VAS and ODI of the two groups were significantly improved compared with those before operation (all P<0.05).@*Conclusion@#In the case of reasonable indications, the unilateral approach PVP is better than bilateral, and unilateral approach PVP should be the first choice for OVCF.
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Objective To explore the efficacy of percutaneous vertebroplasty (PVP) in the treatment of osteoporotic vertebral compression fractures (OVCF).Methods A retrospective analysis of 76 patients with OVCF treated with single and double pedicle approach PVP from April 2016 to June 2017 in the First Affiliated Hospital of He'nan University was conducted.According to the operation method,the patients were divided into unilateral group (42 patients,unilateral pedicle approach),and bilateral group (34 cases,bilateral pedicle approach).The operation time,number of intraoperative X-rays,amount of bone cement injection,height of the vertebral body and the complications were compared between the two groups.The visual analogue scale (VAS) and the Oswestry dysfunction index(ODI) score were used to assess the recovery of the patients.Results The unilateral group had less operative time[(33.01 ± 3.78) min],intraoperative X-ray number [(22.06 ± 3.85) times] and bone cement injection [(3.53 ± 0.42) mL] compared with the bilateral group (t =8.54,5.98,4.74,all P ＜ 0.05).There were no statistically significant differences in the recovery of vertebral height and complications between the two groups (all P ＞ 0.05).The postoperative VAS and ODI of the two groups were significantly improved compared with those before operation (all P ＜ 0.05).Conclusion In the case of reasonable indications,the unilateral approach PVP is better than bilateral,and unilateral approach PVP should be the first choice for OVCF.
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Objective@#To analysis the genotype of Japanese encephalitis virus (JEV) in mosquitoes from Shandong province.@*Methods@#Mosquitoes were collected between August and September in Weishan county, Junan county, and Kenli county of Shandong province in 2016. Viruses were isolated by BHK-21 cell and identified by molecular method . Real-Time RT-PCR was conducted to detect the Japanese encephalitis virus carried by the mosquitoes.@*Results@#A total of 8418 mosquitoes divided into 81 pools including 3 species, Culex tritaeniorhynchus, Anopheles sinensis and Armigeres obturbans. Eight Japanese encephalitis viruses were isolated; 23 pools were positive by JEV specific real-time RT-PCR. Phylogenetic analysis on E sequence of JEV showed all JEV strains belonged to genotype Ⅰ JEV, and new strains that were homogenous with previous JEV strains isolated from Shandong.@*Conclusions@#Genotype Ⅰ JEV was the dominant genotype in Shandong province.
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Erythrocytosis is characterized by an obvious increase in the erythrocyte count,the hematocrit and the hemoglobin content above reference range. Erythrocytosis is more common in adults,and is mostly polycythemia vera,but in children secondary erythrocytosis or congenital erythrocytosis caused by genetic mutations is more common. In recent years,the diagnosis and treatment of erythrocytosis have made new progress,now by the explanation of etiolo-gy,diagnosis and treatment progress of erythrocytosis,the aim of the thesis is to further enrich the knowledges of pe-diatricians about the diagnosis and treatment of erythrocytosis.
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Objective To study the clinical features and prognostic analysis of 36 children with relapsed acute lymphoblastic leukemia(ALL)treated with the ALL 2006 protocol.Methods The data of 308 children who were new-ly diagnosed as ALL at the Department of Pediatric Hematology,Tongji Hospital,Tongji Medical College,Huazhong Uni-versity of Science Technology treated with the ALL 2006 protocol between January 2007 and December 2012 were col-lected,and the clinical features and prognosis of 36 children with relapsed ALL were retrospectively analyzed.The date included initial treatment time,age,gender,immunophenotyping,the white blood cell count,the risk classification,the chromosome,the fusion gene(29 kinds of fusion genes including MLL rearrangement,BCR/ABL,E2A/PBX1,TEL/AML1)in relapsed patients with ALL on the initial diagnosis and recurrence time,recurrence site,as well as whether to get second complete remission(CR2),follow-up time,follow-up deadline condition.Results After treatment with ALL 2006 protocol,the recurrence rate was 11.7%(36/308 cases);the 3 years overall survival rate was(38.0 ± 9.0)%.The recurrence happened almost in the very early stage,about 75.0%(27/36 cases),and the recurrence rate of the early stage and the late stage patients was 16.7%(16/36 cases)and 8.3%(3/36 cases),respectively.The re-lapsed sites were mainly in the bone marrow alone(66.7%,24/36 cases),and the extramedullary recurrence and the combination of bone marrow with extramedullary recurrence was 16.7%(6/36 cases).The 3-year OS was(16.4 ± 8.0)% and(80.0 ± 18.0)% for those relapsed in the very early stage and early stage,respectively(P=0.002).The 3-year OS of the high-risk,medium-risk relapsed patients were(21.0 ± 11.0)%,(51.9 ± 16.0)% and(64.3 ± 21.0)%(P=0.022).Conclusions After the treatment with ALL 2006 protocol,the patients with recurrence were almost at the very early stage.The relapsed sites were mainly in bone marrow alone.The factor associated with survival time of children with relapsed ALL is the relapse at the very early stage.
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OBJECTIVES: To investigate the expression of prostaglandin E2 receptor subtypes, E-prostanoid (EP) 1–4 receptors, in acquired cholesteatoma and its possible role in the pathologic process of this disorder. METHODS: Specimens of human acquired cholesteatoma were obtained from 29 patients and 19 skin biopsies of normal external auditory canal were as controls. The mRNA and protein expression of EP receptors was assessed by quantitative real-time polymerase chain reaction, immunohistochemistry and Western blot. RESULTS: In acquired cholesteatoma, EP1–EP4 receptors were mainly expressed on squamous epithelium and subepithelial infiltrated inflammatory cells. In external auditory canal skin, EP1–EP4 receptors were mainly expressed on squamous epithelium and glandular epithelium. The expression of EP4 receptor on mRNA and protein levels were significant lower in acquired cholesteatoma compared with controls. EP1–EP3 receptors had no significant difference between the experimental and control group. CONCLUSION: Low expression of EP4 may play a crucial role in the pathologic process of inflammation reaction and bone destruction in acquired cholesteatoma, but not EP1, EP2, or EP3 receptors.
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Humanos , Biópsia , Western Blotting , Colesteatoma , Colesteatoma da Orelha Média , Dinoprostona , Meato Acústico Externo , Orelha Média , Epitélio , Imuno-Histoquímica , Inflamação , Reação em Cadeia da Polimerase em Tempo Real , RNA Mensageiro , PeleRESUMO
Objective To study the predicting value of plasma BNP and serum Cys C on heart failure caused by arrhythmogenic right ventricular cardiomyopathy(AVRC).Methods Thirty-two patients with AVRC were chosen.The plasma BNP and serum Cys C were tested.All subjects were followed up for 18 months to observe the happening of heart failure.Results The levels of plasma BNP and serum Cys C at admission in ARVC patients showed the increasing trend along with the decrease of heart function,and the difference among the groups with different heart functions were statistically significant(P＜0.05).The multivariate Logistic regression analysis showed that plasma BNP(OR=4.118) and serum Cys C (OR=6.358)were the independent predicting factors for heart failure in AVRC patients.When BNP and Cys C had the cutoff values of 732.45 ng/L and 2.16 mg/L,their sensitivity and specificity for predicting heart failure were highest.In the survival analysis with the heart failure occurrefice at follow up as the endpoint outcome,the survival rate of the low risk BNP group (≤732.45 ng/L)was higher than that of the high risk BNP group(P＜0.01),and the survival rate of the low risk Cys c group (≤2.16 mg/L)was higher than that of the high risk Cys C group(P＜0.01).Conclusion The plasma BNP and serum Cys C levels had highere predicting value on heart failure caused by AVRC.
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Objective@#To analyze the mutation type of FⅧ gene in children with hemophilia A and to explore the relationship among hemophilia gene mutation spectrum, gene mutation and clinical phenotype.@*Method@#Sixty-two children with hemophilia A from Department of Pediatric Hematology, Tongji Hospital of Tongji Medical College, Huazhong University of Science and Technology between January 2015 and March 2017 were enrolled. All patients were male, aged from 4 months to 7 years and F Ⅷ activity ranged 0.2%-11.0%. Fifty cases had severe, 10 cases had moderate and 2 cases had mild hemophilia A. DNA was isolated from peripheral blood in hemophilia A children and the target gene fragment was amplified by PCR, in combination with the second generation sequencing, 22 and 1 introns were detected. Negative cases were detected by the second generation sequencing and results were compared with those of the international FⅧ gene mutation database.@*Result@#There were 20 cases (32%) of intron 22 inversion, 2 cases (3%) of intron 1 inversion, 18 cases (29%) of missense mutation, 5 cases (8%) of nonsense mutation, 7 cases (11%) of deletion mutation, 1 case(2%)of splice site mutation, 2 cases (3%) of large fragment deletion and 1 case of insertion mutation (2%). No mutation was detected in 2 cases (3%), and 4 cases (7%) failed to amplify. The correlation between phenotype and genotype showed that the most common gene mutation in severe hemophilia A was intron 22 inversion (20 cases), accounting for 40% of severe patients, followed by 11 cases of missense mutation (22%). The most common mutation in moderate hemophilia A was missense mutation (6 cases), accounting for 60% of moderate patients.@*Conclusion@#The most frequent mutation type in hemophilia A was intron 22 inversion, followed by missense mutation, again for missing mutation. The relationship between phenotype and genotype: the most frequent gene mutation in severe hemophilia A is intron 22 inversion, followed by missense mutation; the most frequent gene mutation in medium hemophilia A is missense mutation.
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Objective To establish a rat model of tympanosclerosis(TS) by myringotomy and inoculation of streptococcus pneummoniae, and to observe the morphological change in the tympanic membrane (TM) and middle ear mucous.Methods Forty Sprague-Dawley rats were randomly divided into two groups (n=20/group) and then ten in each group were chosen to serve as the control and the other ten were set up for the TS model.Group A (myringotomy): myringotomy was performed on the bilateral TMs of all rats except the control group.Group B (bacterial inoculation): streptococcus pneumoniae was inoculated into the bilateral middle ear cavity of all rats except the control group.The condition of the TMs and the middle ears in the two groups were respectively examined at 2 weeks after myringotomy and at the five time points (1 week, 2 weeks, 4 weeks, 6 weeks, and 8 weeks) after bacterial inoculation.Then the rats were decapitated and the morphological changes were observed by hematoxylin and eosin staining.Results One rat in group B died two weeks after the inoculation.In the two experimental groups, the calcifications were observed in 70%of the TMs (14/20) in group A and in 33.33%of the TMs (6/18) at 8 weeks in group B.At the same time, the inflammatory infiltration and hyaline degeneration markedly appeared in the tympanic membrane and middle ear mucous membrane.In the two control groups, neither morphological changes nor calcifications occurred.Conclusion The current study indicated that the animal model of TS was successfully accomplished by myringotomy and inoculation of streptococcus pneummoniae, and their morphological changes were basically consistent.However, the method of myringotomy is easier to use and can obtain a higher modeling rate in a relatively short time.
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Objective To study the predicting value of plasma BNP and serum Cys C on heart failure caused by arrhythmogenic right ventricular cardiomyopathy(AVRC).Methods Thirty-two patients with AVRC were chosen.The plasma BNP and serum Cys C were tested.All subjects were followed up for 18 months to observe the happening of heart failure.Results The levels of plasma BNP and serum Cys C at admission in ARVC patients showed the increasing trend along with the decrease of heart function,and the difference among the groups with different heart functions were statistically significant(P＜0.05).The multivariate Logistic regression analysis showed that plasma BNP(OR=4.118) and serum Cys C (OR=6.358)were the independent predicting factors for heart failure in AVRC patients.When BNP and Cys C had the cutoff values of 732.45 ng/L and 2.16 mg/L,their sensitivity and specificity for predicting heart failure were highest.In the survival analysis with the heart failure occurrefice at follow up as the endpoint outcome,the survival rate of the low risk BNP group (≤732.45 ng/L)was higher than that of the high risk BNP group(P＜0.01),and the survival rate of the low risk Cys c group (≤2.16 mg/L)was higher than that of the high risk Cys C group(P＜0.01).Conclusion The plasma BNP and serum Cys C levels had highere predicting value on heart failure caused by AVRC.
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Objective To investigate the association of genetic polymorphisms of ATIC and GSTP1 with plasma concentrations and adverse reactions of high-dose methotrexate( HD-MTX)in children with acute lymphoblastic leukemia (ALL). Methods A total of 70 peripheral blood samples were obtained from ALL children for extraction of genome DNA.The gene polymorphisms of ATIC T26293C and GSTP1 A313G locus were examined by using PCR and direct sequencing.Enzyme multiplied immunoassay technique(EMIT)was employed to determine the plasma concentration of MTX in 48 h.Clinical data of patients were collected during HD-MTX chemotherapy,and the adverse reactions were statistically analyzed.The associations of ATIC and GSTP1 genotypes with MTX plasma concentration and adverse reactions were investigated. Results There were genetic polymorphisms at the SNP of ATIC T26293C and GSTP1 A313G.At the SNP of ATIC T26293C,the percentages of TT, CT and CC genotypes in ALL children were 4.35%,39.13% and 56.52%,respectively,and the frequencies of T and C alleles were 23.91% and 76.09%.At the SNP of GSTP1 A313G,the percentages of AA,GA and GG genotype were 68.57%,28.57%and 2.86%,respectively,in ALL children. The frequencies of A and G alleles were 82. 86% and 17. 14%,respectively. No statistically significant difference was found in the ratio of blood MTX concentration to MTX dose at 48 h between children with different genotypes(P>0.05).In the GSTP1 A313G site,genotypes that induced the gastrointestinal reactions in the order from low to high were AA,GA,GG,and there was a significant association between gene polymorphism and gastrointestinal side effects(P<0.05).In the GSTP1 A313G site,genotypes that induced myelosuppression in the order of low to high were GG,AA, GA,and a significant association was noted between gene polymorphism and myelosuppression(P<0.05). Conclusion There are significant associations between GSTP1 A313G polymorphism and gastrointestinal side effects or myelosuppression after HD-MTX chemotherapy in ALL children.
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OBJECTIVE@#To evaluate the extent of endolymphatic hydrops as shown by three-dimensional fluid-attenuated inversion recovery magnetic resonance imaging (3D FLAIR MRI) performed 24 hours after bilateral intratympanic gadolinium administration and discuss the positive rate of endolymphatic hydrops in vestibule and cochlea.@*METHOD@#Twenty-four hours after bilateral intra-tympanic 8 times diluted gadolinium administration, three-dimensional fluid-attenuated inversion recovery MRI, using a three-Tesla unit, was performed in 48 patients, and then assessed the extent of endolymphatic hydrops in the MRI images.@*RESULT@#Forty-eight patients showed different levels of enhancement of perilymth in the inner ear. In these patients, obvious signs of endolymphatic hydrops were visualized in vestibule,including 8 slight hydrops, 17 mild hydrops and 23 severe hydrops with a diagnostic rate of 83.3%. There were almost no complications in all 48 patients after bilateral intra-tympanic injection except short vertigo in some of them.@*CONCLUSION@#3D FLAIR MRI resonance imaging has a high positive diagnostic rate in assessing endolymphatic hydrops of Ménière's disease and provides direct imaging evidence for diagnosing Ménière's disease.
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Humanos , Cóclea , Meios de Contraste , Orelha Interna , Orelha Média , Gadolínio DTPA , Imageamento Tridimensional , Injeções , Imageamento por Ressonância Magnética , Doença de Meniere , Diagnóstico , Vestíbulo do LabirintoRESUMO
Aneurysmal bone cyst of mastoid bone is seldom, here one case was reported. The mastoid bone of the patient presented with a baloon-like swelling full of non-coagulated blood and serous-hemorrhagic fluid. CT scan demonstrated a large expansile destructive mass located in left mastoid bone region with the thin or absent cortical bone. The MRI demonstrated T2-weighted images and clear boudary from surrounding tissue. Pathologic reported that the mastoid bone was repalcement with lacunar divided by fibro-tissue, containing numerous hemosiderin, giant cells and inflammatory cells. A surgery was performed and the patient was cured.
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Humanos , Cistos Ósseos Aneurismáticos , Diagnóstico , Patologia , Cirurgia Geral , Imageamento por Ressonância Magnética , Processo Mastoide , Patologia , Tomografia Computadorizada por Raios XRESUMO
Objective To observe the opening movement of eustachian tube pharyngeal orifice in patients with secretory otitis media(SOM) by cine CT to mearsure the thickness of the lateral ET wall ,and to evaluate the roles played by those peri-tube structure in the pathogenesis of ET obstruction .Methods Twenty -seven SOM patients as experiment group underwent low -radiation dose cine CT scans of the ET ,the image were reconstructed into a cine image to see the opening movement of the eustachian tube pharyngeal orifice .The CT scan of sixty-four non-SOM patient as control group was performed .The images were reconstructed to show the relationship among the in‐ferior turbinate ,the nasopharyngeal soft tissue and the eustachian tube .These serial images were analyzed to meas‐uring the thickness of the lateral wall of ET cartilage segment and to find out whether the gas exist in the pharyngeal recess .Results The opening movement of the pharyngeal orifice was observed in 23 SOM patients ,the mean thick‐ness of the lateral wall of ET cartilage segment in ithe ears studied and healthy ears of SOM patients are 8 .93 ± 1 .6 mm and 8 .89 ± 1 .2 mm ,respectively ,much larger than those of in non-SOM patients ,but with no static signifi‐cance .The pharyngeal recess in 69 .0% (29/42) affected ears of som patients and 58 .3% (7/12) in healthy ears were gas free .This rate in som patients was significantly higher than that in the non-SOM patient group .Conclusion The etiologies of dysfunction of eustachian tube may include hypertrophic inferior turbinate ,chronic inflammation of eustachian tube mucosa ,compression of the nasal pharyngeal soft tissue .The compression of the nasal pharyngeal soft tissue may play an important role in the obstruction of the specific cartilage segment of the ET .
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Objective To evaluate the correlation between the endolymphatic hydrops in vestibule and symp‐toms ,audiovestibular functions in patients with Meniere's disease .Methods Twenty -four hours after bilateral intra-tympanic 8 times diluted gadolinium administration , three - dimensional fluid - attenuated inversion recovery MRI ,using a three-Tesla unit ,was performed in 34 patients .The extent of endolymphatic hydrops in the MRI images was assessed and compared the hydrops with age ,duration ,stage of the disease ,frequency of attacks ,pure tone audiometry ,caloric test ,electrocochleography and vestibular evoked myogenic potentials .Results Thirty -four patients showed different levels of enhancement of perilymth in the inner ears .In these patients ,obvious signs of endolymphatic hydrops were visualized ,including 8 slight hydrops ,11 mild hydrops and 15 significant hydrops . In all 34 patients ,the results of PTA were 9 dB HL to 90 dB HL ,with average of 43 .56 dB HL and there were 21 abnormal and 13 normal patients in caloric test with a diagnostic rate 61 .76% ;17 normal ,7 abnormal and 10 not elicited patients in VEMP with a diagnostic rate 50% ;22 abnormal and 12 normal patients in electrocochleography with a diagnostic rate 64 .71% .There were almost no complications in all 34 patients after bilateral intra-tympanic injec‐tion except short vertigo among 5 of them .A statistically significant correlation was found between degrees of en‐dolymphatic hydrops in vestibule and age ,stage of the disease and VEMP (P 0 .05) and the correlation coefficient were 0 .494 ,0 .568 ,0 .590 , 0 .495 ,respectively .Conclusion The degree of endolymphatic hydrops in Ménière's disease has significant correlation with age ,VEMP ,stage of the disease and pure tone audiometry .No significant correlation was found between hy‐drops and duration ,frequency of attacks ,functional level scale ,caloric test and electrocochleography .