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Objective:To investigate the risk factors and prognosis of varicella zoster virus (VZV) infection in children with thalassemia after allogeneic hematopoietic stem cell transplantation (allo-HSCT).Methods:The clinical data of 446 children with thalassemia who underwent allo-HSCT from January 2012 to December 2020 in the Department of Hematology and Oncology, Shenzhen Children′s Hospital were retrospectively collected.The clinical features of the patients with VZV infection were analyzed.The patients were divided into different groups according to whether they had VZV infection.Categorical variables between groups were compared using the chi- square tests to investigate the risk factors that were associated with the development of VZV.Survival time was analyzed by the Kaplan-Meier method. Results:VZV incidence was 4.3% (19/446 cases), and the median onset time was 5 months (1.5-11.0 months) after allo-HSCT.Of the 19 cases with VZV infection, 5 cases were complicated with VZV encephalitis.All cases were treated with antiviral agents (Acyclovir alone, or both Acyclovir and Foscarnet), intravenous immunoglobulin and external use of Acyclovir ointment.After 7-28 days of treatment (median treatment time: 14 days), all of their herpes subsided, and the neurological symptoms of patients with VZV encephalitis disappeared.One of the 19 children died.The death was not directly caused by VZV infection, but by secondary graft dysfunction and severe pneumonia 5 months after VZV infection.The incidence of VZV infection following allo-HSCT in children with thalassemia was related to the age of the donor ( P=0.010), but not to the age of the patient ( P=0.378), gender ( P=0.653), disease grade of thalassemia ( P=0.912), type of the donor ( P=0.205), source of stem cells ( P=0.624) and acute graft versus host disease ( P=0.277). VZV infection had no significant effect on the prognosis of thalassemia children after allo-HSCT ( P=0.241). Conclusions:Thalassemia children with VZV infection after allo-HSCT are prone to be complicated with VZV encephalitis.Cord blood transplantation is a high risk factor.VZV infection may not have an impact on survival of children with thalassemia after allo-HSCT.
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Objective:To investigate the risk factors and prognosis of varicella zoster virus (VZV) infection in children with thalassemia after allogeneic hematopoietic stem cell transplantation (allo-HSCT).Methods:The clinical data of 446 children with thalassemia who underwent allo-HSCT from January 2012 to December 2020 in the Department of Hematology and Oncology, Shenzhen Children′s Hospital were retrospectively collected.The clinical features of the patients with VZV infection were analyzed.The patients were divided into different groups according to whether they had VZV infection.Categorical variables between groups were compared using the chi- square tests to investigate the risk factors that were associated with the development of VZV.Survival time was analyzed by the Kaplan-Meier method. Results:VZV incidence was 4.3% (19/446 cases), and the median onset time was 5 months (1.5-11.0 months) after allo-HSCT.Of the 19 cases with VZV infection, 5 cases were complicated with VZV encephalitis.All cases were treated with antiviral agents (Acyclovir alone, or both Acyclovir and Foscarnet), intravenous immunoglobulin and external use of Acyclovir ointment.After 7-28 days of treatment (median treatment time: 14 days), all of their herpes subsided, and the neurological symptoms of patients with VZV encephalitis disappeared.One of the 19 children died.The death was not directly caused by VZV infection, but by secondary graft dysfunction and severe pneumonia 5 months after VZV infection.The incidence of VZV infection following allo-HSCT in children with thalassemia was related to the age of the donor ( P=0.010), but not to the age of the patient ( P=0.378), gender ( P=0.653), disease grade of thalassemia ( P=0.912), type of the donor ( P=0.205), source of stem cells ( P=0.624) and acute graft versus host disease ( P=0.277). VZV infection had no significant effect on the prognosis of thalassemia children after allo-HSCT ( P=0.241). Conclusions:Thalassemia children with VZV infection after allo-HSCT are prone to be complicated with VZV encephalitis.Cord blood transplantation is a high risk factor.VZV infection may not have an impact on survival of children with thalassemia after allo-HSCT.
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OBJECTIVE@#To investigate the genetic etiology, clinical diagnosis and treatment of a child with pancytopenia, failure to thrive and pulmonary infection.@*METHODS@#Peripheral blood samples of the child and her parents were collected. Genomic DNA was extracted. Genetic variants associated with hematological diseases were detected by high-throughput sequencing.@*RESULTS@#Three variants of TCN2 gene were found, one of which located in exon 5 upstream(c.581-8A>T), the parents has carried this variant; one in exon 6 (c.924_927del), the variant was originated from the mother; one in exon 7 (c.973C>T), the variant has ocurred de novo. The variants pathogenic analysis combined with clinical manifestation, pancytopenia, the increase in methylmalonic acid level and increased homocysteine, the child was diagnosed with transcobalaminIIdeficiency. The patient presented with respiratory infection, which was confirmed to be pneumocystosis by lung radioscopy and pathogenic high-throughput sequencing of broncho-alveolar lavage fluid. The patient presented with acute respiratory distress syndrome during the treatment with intramuscular injection of vitamin B@*CONCLUSION@#We reported a case of Chinese child with TCNII deficiency due to novel gene variant, and analyzed the pathogenicity of the three variants. The treatment of TCNII deficiency with cobalamin should be individualized.
الموضوعات
Child , Female , Humans , Amino Acid Metabolism, Inborn Errors , Genetic Testing , Rare Diseases , Transcobalamins/genetics , Vitamin B 12الملخص
OBJECTIVE:To evaluate th e effectiveness ,safety and economy of albu min-bound paclitaxel (nab-PTX)in the treatment of breast cancer by using rapid health technology assessment (HTA),and to provide evidence-based reference for drug selection. METHODS :Retrieved from PubMed ,the Cochrane Library ,CNKI,Wangfang database and other databases ,systematic evaluation/Meta-analysis,HTA and pharmacoeconomic studies about nab-PTX in the treatment of breast cancer were included ;the conclusions were classified and analyzed by using descriptive analysis. RESULTS :A total of 5 systematic reviews/Meta-analysis , 8 pharmacoeconomic studies were included in this study. Compared with conventional taxanes ,nab-PTX increased pathological complete response (pCR)rate [OR =1.39,95%CI(1.16,1.67),P<0.001] and event-free survival (EFS)[HR=0.69,95%CI(0.57, 0.85),P<0.001] in neoadjuvant chemotherapy (NAC)-treated breast cancer patients. However ,there were no significant differences in overall survival (OS),progression-free survival (PFS),objective response rate (ORR)and disease control rate (DCR)in metastatic breast cancer (MBC)patients between 2 groups. In the terms of safety ,nab-PTX increased the incidence of grade 3-4 sensory neuropathy [OR =1.89,95%CI(1.36,2.61),P<0.001] in MBC patients ,and increased the incidence of neutropenia [OR = 1.52,95%CI(1.23,1.88,P<0.001],sensory neuropathy [OR = 2.17,95%CI(1.38,3.40),P<0.001],rash [OR =1.46,95%CI mei1213@163.com (1.18,1.80),P<0.001] and fatigue [OR =1.28,95%CI(1.04, 1.56), P=0.02] in NAC -treated breast cancer patients.Pharmacoeconomic studies showed that nab-PTX could improve the quality adjusted lif e years of MBC patients compared with traditional taxanes ,and it was a economical option. CONCLUSIONS:Nab-PTX enhances pCR in NAC-treated breast cancer patients ,but has no significant advantage in the effectiveness of MBC patients ,and increases the occurrence of ADR. Nab-PTX may have a cost-utility advantage over conventional taxanes for MBC.
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Objective:To investigate the relationship between serum 25 hydroxyvitamin-D3, soluble advanced glycation end product receptor (sRAGE), nucleotide binding oligomerization domain like receptor 3 (NLRP3) mRNA and cognitive impairment in hypertensive intracerebral hemorrhage (HICH).Methods:143 patients with HICH treated in the Affiliated Hospital of Guangdong Medical University from July 2016 to July 2019 were selected as the research objects. Among the 143 patients with HICH, there were 68 patients with cognitive impairment (cognitive impairment group) and 75 patients without cognitive impairment (control group). The age, gender, amount of intracerebral hemorrhage, bleeding site, blood pressure, blood glucose and blood lipid of the two groups were counted, and the mRNA levels of 25 hydroxyvitamin-D3, sRAGE and NLRP3 were detected. Multivariate logistic regression analysis was used to analyze the risk factors of cognitive impairment in patients with HICH.Results:There were no significant differences in age, gender, smoking, education, bleeding site, diabetes rate, triglyceride (TG), total cholesterol (TC), low density lipoprotein cholesterol (LDL-C), and high density lipoprotein cholesterol (HDL-C) between cognitive dysfunction group and control group ( P>0.05); There were significant differences in bleeding volume and neurological function defect score (NIHSS) score between cognitive impairment group and control group ( P<0.05); The level of 25 hydroxyvitamin-D3 in cognitive impairment group was lower than that in control group ( P<0.05), and the expression level of NLRP3 mRNA was higher than that in control group ( P<0.05). There was no significant difference in sRAGE between the two groups ( P>0.05); Logistic regression analysis showed that the decrease of 25-hydroxyvitamin-D3 level, the increase of bleeding volume and NIHSS score were independent risk factors for cognitive impairment in HICH patients ( P<0.05). Conclusions:Decreased serum 25 hydroxyvitamin-D3 levels may increase the risk of cognitive impairment in patients with HICH.
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OBJECTIVE:To inve stigate the effects of polymorphism of CYP3A4,CYP3A5 and other genes on the increasing of tacrolimus blood concentration by Wuzhi capsules in renal transplantation patients. METHODS :Totally 194 patients in Han nationality underwent renal transplantation and rece ived outpatient follow-up after surgery were selected from the First Affiliated Hospital of Anhui Medical University during Aug. 2015-Nov. 2018,and then divided into single drug group (107 cases)and combination group (87 cases)according to using of Wuzhi capsules or not. Single drug group was given Tacrolimus capsules 0.1-0.15 mg/kg,po,bid+Mycophenolate mofetil capsule s 0.5-0.75 g,bid or Mycophenolate sodium enteric-coated tablets 360-540 mg,bid+Prednisone acetate tablets 10 mg,qd;combination group was additionally given two Wuzhi capsules ,bid,on the basis of single drug group. Two groups were treated at least 7 d. The clinical data (such as patients ’sex and age )were collected ,and enzyme amplification immunoassay was used to detect steady-state valley concentration of tacrolimus ,and calculate valley concentration/daily dose (C/D)value. PCR was adopted to detect patient genotyping of CYP3A5 gene rs 4646457,rs15524 and rs776746 locus,CYP3A4 gene rs 4646437,rs2242480 and rs 35599367 locus,ABCB1 gene rs 1128503 locus,ABCC2 gene rs3740066 locus,NR1I2 gene rs 3814055 locus,POR gene rs 1057868 locus,PPARA gene rs 4253728 locus,IL-3 gene rs 181781 locus, IL-10 gene rs 1800896 locus,CTLA4 gene rs 4553808 locus,CYP2C19 gene rs 4244285 and rs 4986893 locus,respectively. The correlation of each factor and tacrolimus C/D value was analyzed by Kruskal-Wallis test or Spearman rank test. Multivariate linear regression was conducted. RESULTS :In 194 renal transplanation patients ,only wild type at rs 3599367 locus of CYP3A4 gene and rs4253728 locus of PPARA gene were detected ,and each genotype distribution of other genes was consistent with the Hardy-Weinberg equilibrium (P>0.05). Single factor analysis and multiple linear regression analysis showed that the combination of Wuzhi capsules and rs 776746 polymorphism of CYP3A5 gene were related to tacrolimus C/D value(P<0.05). There was statistical significance in tacrolimus C/D values among different genotypes of CYP3A5 gene in single drug group and combnation group(P<0.05). C/D value of GG and AG genotype in single drug group were significantly lower than combination group (P< 0.05),while there was no statistical significance in tacrolimus C/D value of AA genotype between 2 groups (P>0.05). CONCLUSIONS:Combination of Wuzhi capsules or not and polymorphism of CYP3A5 gene rs 776746 locus are associated with blood concentration of tacrolimus in renal transplantation patients in Han nationality. Combined use of Wuzhi capsules can increase blood concentration of tacrolimus in GG and AG genotype ,but have no significant effect on AA genotype.
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In this paper, a new method for the classification of Alzheimer's disease (AD) using multi-feature combination of structural magnetic resonance imaging is proposed. Firstly, hippocampal segmentation and cortical thickness and volume measurement were performed using FreeSurfer software. Then, histogram, gradient, length of gray level co-occurrence matrix and run-length matrix were used to extract the three-dimensional (3D) texture features of the hippocampus, and the parameters with significant differences between AD, MCI and NC groups were selected for correlation study with MMSE score. Finally, AD, MCI and NC are classified and identified by the extreme learning machine. The results show that texture features can provide better classification results than volume features on both left and right sides. The feature parameters with complementary texture, volume and cortical thickness had higher classification recognition rate, and the classification accuracy of the right side (100%) was higher than that of the left side (91.667%). The results showed that 3D texture analysis could reflect the pathological changes of hippocampal structures of AD and MCI patients, and combined with multi-feature analysis, it could better reflect the essential differences between AD and MCI cognitive impairment, which was more conducive to clinical differential diagnosis.
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OBJECTIVE: To study the relationship of CYP3A4, CYP2C8 and CYP3A5 gene polymorphism with ADR/blood concentration of hydroxychloroquine in patients with autoimmune disease (AID), and to provide reference for individual medication of hydroxychloroquine. METHODS: Totally 77 AID patients,who were treated with hydroxychloroquine (daily dose of 200 mg to 400 mg) for a long-term (>6 months), were selected from the department of rheumatology and immunology, the First Affiliated Hospital of Anhui Medical University during Jul. 2017 to Aug. 2018. The information, blood sample and ADR of them were collected. Those patients were divided into normal liver function group, abnormal liver function group, normal renal function group, abnormal renal function group, normal eye group and abnormal eye group according to the site of ADR. The concentration of hydroxychloroquine was determined by HPLC. Genotype of CYP3A4, CYP2C8 and CYP3A5 were detected by MassARRAY microarray system. The differences of hydroxychloroquine-induced ADR in different genotypes were analyzed by χ2 test. The blood concentration difference of hydroxychloroquine in different genotypes were analyzed by independent sample t-test and one-way ANOVA. RESULTS: There was statistical significance in the distribution of CYP3A5 rs4646453 locus between normal renal function group and abnormal renal function group(P<0.05). The incidence of CC genotype was higher than that of AA+AC genotype in abnormal renal function group. There was statistical significance in the distribution of CYP2C8 rs10882526 locus between normal liver function group and abnormal liver function group(P<0.05). The incidence of allele G was higher than that of allele A in abnormal liver function group, and the incidence of AG genotype was higher than that of AA genotype. There was no significant correlation of the gene polymorphisms of CYP3A4, CYP2C8 and CYP3A5 with blood concentration among 77 AID patients. In subgroup analysis, blood concentration of GT, GG and TT genotypes of CYP2C8 rs10882521 in 58 patients with systemic lupus erythematosus (SLE) were 514.1,735.3 and 785.9 ng/mL, respectively; GG and TT genotypes were significantly higher than GT genotype (P<0.05). CONCLUSIONS: AID patients with CYP3A5 rs4646453 CC genotype have a higher incidence of renal dysfunction due to taking hydroxychloroquine; patients with CYP2C8 rs10882526 locus allele G and AG have a relatively high incidence of renal dysfunction due to taking hydroxychloroquine. When SLE patients taking the same dose of hydroxychloroquine, the blood concentration of hydroxychloroquine in patients carrying CYP2C8 rs10882521 GT genotype is lower than other genotypes.
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There is a high incidence of adult chronic obstructive pulmonary disease (COPD),which induces high rate of disability,and heavy financial burden in China.As the core of comprehensive treatments of COPD,lung rehabilitation can improve the quality of life and reduce the cost of treatment.This article introduces not only the definition of COPD lung rehabilitation and its recent states and progress,but also the related indications of different lung rehabilitation techniques with the formulations and resolutions of rehabilitation programs.
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Objective To investigate the expression of human epididymal protein 4 (HE4) in chronic kidney disease (CKD) and its clinical value.Methods From April 2014 to December 2015,Serum samples of 92 non-cancer patients diagnosed as CKD and 84 healthy controls were collected in Nantong University Hospital.HE4,BUN,Scr,Cys C and β2MG were detected.The difference of HE4 expression in different stages of CKD and the correlation of HE4 with Urea,Scr,Cys C and β2MG were analysized,respectively.ROC curve was used to evaluate the auxiliary diagnostic value of HE4,BUN,Scr,Cys C and β2MG.Results The serum HE4 expression in patients with impaired renal function was 388.2 (130.1~1 659.5)mIu/ L,(F=16.237,P=0.001).Which was significantly higher than that in the control group [38.1 (32.77 ~ 48.17)mIu/L].The serum HE4 expression was increased by the stage of renal damage and the difference was existed among different groups (P<0.05).HE4 expression was positive related with Cys C and β2MG.The AUC of HE4,BUN,Scr,Cys C and β2MG were 0.878,0.785,0.816,0.874 and 0.819,respectively.Conlusion It needs to consider the exsits of impaired renal function when the HE4 was detected.The HE4 might be a novel early diagnostic indication for CKD.
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OBJECTIVE:To explore the clinical related factors of leucopenia induced by azathioprine in the treatment of inflam-matory bowel disease (IBD). METHODS:Clinical information of 114 IBD patients were collected from our hospital during Jan. 2013-Mar. 2015. Steady concentration of AZA metabolite 6-thioguanine(6-TGNs)in red blood cell was determined by HPLC. The correlation of patient’s gender,age,diseases,AZA daily dose and blood concentration of 6-TGNs with leucopenia induced by AZA were investigated. The optimal critical value of leucopenia could be predicted with ROC curves. RESULTS:Among 114 IBD patients,40 patients suffered from leucopenia(35.1%). There was no statistical significance in the proportion of leucopenia among patients with different age,gender,diseases and AZA daily dose(P>0.05). There was statistical significance in the proportion of leucopenia among patients with different concentrations of 6-TGNs(P291.04 pmol/(8 × 108)RBC. CONCLUSIONS:AZA induced leucopenia may be related to the concentration of 6-TGNs in red blood cell of IBD patients,and high concentration of 6-TGNs is risk factors of leucopenia. Clinicians can provide AZA individual treatment for IBD patient to reduce the occurrence of leucopenia according to routine blood test and the concentra-tion of 6-TGNs.
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Objective To develop an HPLC method for the determination of mycophenolic acid(MPA), mycophenolic acid glucuronide(MPAG) in plasma.Methods The samples were precipitated with zinc sulphate-methanol solution before injection.Carbamazepine was selected as internal standard,ZORBAX XDB C18 (4.6 mm ×250 mm,5 μm) column was used and the flow rate was 1 mL/min.The mobile phase consisted of methanol-acetonitrile-potassium dihydrogen phosphate buffer solution(gradient elution) .The column temperature was 30℃ and the detective wave length was 254 nm.And then the MPA,MPAG concentration of 32 patients in 7-14 days after renal transplantion were determined.Results The assay was linear within 0.2-50μg/mL for MPA, 2.5-500 μg/mL for MPAG(r>0.999).Absolute recovery rates of MPA,MPAG were more than 80%, the recoveries were between 90%-110%.The intra-day and inter-day RSDs were both lower than 10%.Totally 32 cases of renal transplantion patiens were with mycophenolate mofetil at the dose of 1-1.5 g/d,and MPA in plasma was within the range of 0.32-6.19μg/mL,MPAG in plasma was within the range of 9.52-149.25μg/mL.Conclusion The method is accurate, convenient and rapid, which could be used in the quantitative determination of plasma concentration of MPA,MPAG in renal transplantion patients.
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Objective To establish the method of the SYBR Green Ⅰ real‐time fluorescent quantitative PCR for detecting the se‐rum miR‐203 expression level ,and to detect the serum miR‐203 expression levels in the patients with cervical cancer ,cervical benign diseases and healthy controls .Methods The miR‐203 ,U6 stem loop RT primers and the PCR amplification primers were designed for conducting fluorescence quantitative PCR ,with U6 as the internal relative quantification ,the serum miR‐203 levels were com‐pared among different cervical diseases .Results The established method could specifically detect the amplification signal of serum miR‐203 ,the melting curve was single and PCR products were specific .The serum miR‐203 level in the patients with cervical cancer was significantly higher than that in the patients with benign cervical diseases such as hysteromyoma and cervicitis ,the difference was statistically significant (P<0 .05) .Conclusion The SYBR Green Ⅰ real‐time fluorescent quantitative PCR is a quick ,simple detection method with high sensitivity and good specificity ,which may have a better application prospect in cervical cancer auxiliary diagnosis .
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Objective:To investigate the correlation between polymorphisms of serine hydroxymethyltransferase1 gene and the adverse reactions of high-dose methotrexate (HD-MTX) in children with acute lymphoblastic leukemia (ALL). Methods:A total of 51 patients with ALL were treated with HD-MTX, and clinical manifestations after HD-MTX treatment were evaluated retrospectively. cD-NA was obtained from mRNA. The polymorphisms of SHMT1 gene containing rs1979277, rs3783, rs1979276, and rs12952556 sites were tested by denaturing gradient gel electrophoresis and direct sequencing. Effects of SHMT1 gene polymorphisms on HD-MTX ad-verse reactions were evaluated. Results:Severe adverse reactions in ALL patients treated with HD-MTX appeared to be mainly neutro-penia and hepatoadverse reactions. The frequency distributions of rs3783 (C>G), rs1979276 (C>T), rs12952556 (A>G), and rs1979277 (C>T) were the same. The polymorphisms of rs1979277 showed no correlation with neutropenia (P>0.05) but rs1979277 CT and TT genotypes were correlated with hepatoadverse reactions (CT: OR=0.129, 95% CI: 0.020 to 0.817, P=0.03; TT: OR=0.103, 95% CI:0.017 to 0.620, P=0.013). Conclusion: No correlation was found between the combination of rs1979277, rs3783, rs1979276, rs12952556, and neutropenia, but one or more of these loci may reduce the risk of hepatoadverse reactions.
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Hyperthermia is a significant and promising technique for tumor treatment. Temperature is the key parameter which influences the treatment effectiveness. Therefore, real-time and precise noninvasive temperature monitoring is the pivotal issue in further development of hyperthermia. This paper introduced the noninvasive monitoring theories and techniques of hyperthermia based on ultrasonic image texture features, and reviewed the achievements both abroad and at home. In addition, some problems to be solved necessary were also pointed out.
الموضوعات
Animals , Humans , Body Temperature , Hyperthermia, Induced , Methods , Monitoring, Physiologic , Methods , Neoplasms , Therapeutics , Thermometers , Ultrasonics , Methodsالملخص
Voxel based morphometry (VBM) methods are used to detect the difference in brain structures between the posttraumatic stress disorder (PTSD) sufferers and the normal controls. Standard VBM method can detect the difference of the gray matter or white matter densities while the optimized VBM method can detect the difference of gray matter or white matter volumes in the whole brain. The experiments showed that for the patient group, gray matter density or volumes significantly increased in the right frontal lobe, middle frontal gyrus, vermis, left caudate and parietal lobe, compared with the normal controls. However, in the left frontal lobe and middle frontal gyrus, gray matter density significantly decreased. There is no significant difference in white matter between the two groups. These results are consistent with those of the fMRI, which not only provide the evidence for further study of the pathogeny in PTSD but also validate the efficiency of the VBM methods for detecting the difference in the whole brain structure.