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<p><b>OBJECTIVE</b>To identify a novel hemoglobinopathy applied by direct sequencing and clone sequencing.</p><p><b>METHODS</b>EDTA anticoagulated blood of proband and his parents were analyzed by hematology analyzers and Capillarys hemoglobin electrophoresis (CE). Then thalassemia genetypes were screened by gap-PCR and reverse dot blot (RDB). Proband was suspected with abnormal hemoglobin combine alpha beta compound thalassemia. The mutation of beta-globin was identified by direct sequencing and clone sequencing.</p><p><b>RESULTS</b>Hb analysis showed that probands Hb A2 variant was eluted in Z (C) zone and his father's in Z (A2) zone on CE,and proband's mother elevated HbA2 of 4.6%. Screened by RDB, the proband was CD71-72(+A) homozygote and showed the mismatch with his parents. Through direct sequencing and clone sequencing, we deduced that our proband inherited the mutations of HBB c.[219T>A;220G>T] from his father and inherited the Southeast-Asian deletion and HBB c.216-217insA from his mother.</p><p><b>CONCLUSION</b>A novel double heterozygote of HBB c.[219T>A; 220G>T] was identified in south China. This mutation enriches the beta-thalassemia gene mutation spectrum in Chinese population.</p>
Subject(s)
Child, Preschool , Humans , Male , Asian People , Genetics , Hemoglobins , Genetics , Hemoglobins, Abnormal , Genetics , Heterozygote , Mutation , Genetics , Pedigree , Thalassemia , Genetics , beta-Globins , GeneticsABSTRACT
Objective To investigate the BRAF-V600E mutation in pediatric patients with Langerhans cell histiocytosis and its clinical features. Methods A retrospective study was conducted among 27 children who were diagnosed in our hospital between August 2009 and June 2015 ,including 17 males and 10 females. BRAF-V600E was amplified from tissue samples of the 27 children with LCH by PCR and the relationship was analysed between the mutation and clinical features ,outcome. Results BRAF-V600E mutation was found in 9 cases within all 27 tested cases(33.3%). Significant difference was not found in age ,gender ,system involvement ,6-week reaction ,3-year overall survival and event-free survival between BRAF-V600E positive and negative groups. Conclusions BRAF-V600E mutation was found in Chinese pediatric LCH patients with positive rate of 33.3%, that indicates LCH might be a neoplastic disease. However ,its definite role on disease onset ,system involvement and disease progression remains unknown.
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Objective To investigate the BRAF-V600E mutation in pediatric patients with Langerhans cell histiocytosis and its clinical features. Methods A retrospective study was conducted among 27 children who were diagnosed in our hospital between August 2009 and June 2015 ,including 17 males and 10 females. BRAF-V600E was amplified from tissue samples of the 27 children with LCH by PCR and the relationship was analysed between the mutation and clinical features ,outcome. Results BRAF-V600E mutation was found in 9 cases within all 27 tested cases(33.3%). Significant difference was not found in age ,gender ,system involvement ,6-week reaction ,3-year overall survival and event-free survival between BRAF-V600E positive and negative groups. Conclusions BRAF-V600E mutation was found in Chinese pediatric LCH patients with positive rate of 33.3%, that indicates LCH might be a neoplastic disease. However ,its definite role on disease onset ,system involvement and disease progression remains unknown.
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<p><b>OBJECTIVE</b>To evaluate antifungal combination strategy in children with hematologic diseases and invasive fungal disease( IFD).</p><p><b>METHODS</b>A retrospective clinical study was performed based on 67 childhood patients with hematologic diseases and IFD who firstly accepted combination antifungal therapy for ≥ 7 days during January 2012 and December 2014. Of them, 11 cases received combination of echinocandin with azole, 10 cases received combination of echinocandin with amphotericin B, and 46 cases received combination of azole with amphotericin B.</p><p><b>RESULTS</b>Overall response rate was 79.1%. Univariate analysis revealed that granulocyte recovery (P=0.031), status of underling disease (P=0.023) and the duration of the therapy (P=0.046) were significantly associated with efficacy. Multivariate analysis showed that the independent prognostic factor was the duration of combination antifungal therapy (OR=0.229, 95% CI 0.061- 0.863, P=0.029). The response rates of echinocandin combined with azole, echinocandin combined with amphotericin B and azole combined with amphotericin B were 81.8%, 60.0% and 82.6%, respectively (P>0.05), and 12-week survival rates were 81.8%, 80.0% and 86.5%, respectively (P>0.05). The drug- related adverse reactions occurred 59 times in 34 patients. BUN increasing, hypokalemia and abnormal liver functions were considered the main side effects.</p><p><b>CONCLUSION</b>For IFD in children with hematologic disease, to extend the duration of treatment (≥ 14 days) could significantly improve the curative effect. Combinations of echinocandin with azole, echinocandin with amphotericin B and azole with amphotericin B can be used as a combination treatment options. Combination of Azole with amphotericin B is efficacious, safe and economic treatment option considering efficacy, survival rate, cost and dosage form.</p>
Subject(s)
Child , Humans , Amphotericin B , Therapeutic Uses , Antifungal Agents , Therapeutic Uses , Drug Therapy, Combination , Echinocandins , Therapeutic Uses , Hematologic Diseases , Microbiology , Mycoses , Drug Therapy , Retrospective Studies , Survival Rate , Treatment OutcomeABSTRACT
OBJECTIVE To detect serotype of dengue virus in sera from patients with fever.METHODS A pair of degenerated primers and one MGB probe were designed targeting the conserved region at the E gene of dengue type 1 virus.TaqMan MGB real-time PCR assay was developed with plasmid including E gene of dengue type 1 virus as standard sample.The sera of 10 patients with fever were used to extract RNA,and convert into cDNA.Then cDNA were detected by TaqMan MGB real-time PCR assay and the amplified products were analyzed at the same time.RESULTS The sera of 9 patients from 10 samples were observed to generate a fluorescent signal,and about 100 bp fragment was obtained simultaneously.CONCLUSIONS Dengue fever on 2006 in Guangzhou is caused by the dengue type 1 virus.TaqMan MGB real-time PCR assay is rapid and sensitive to detect dengue virus infections.
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OBJECTIVE To investigate the characteristic and prognosis of nosocomial infection in children patients with malignances during deficiency stage of neutropenia. METHODS The clinical characteristic of infections and efficiency of antibiotics were analyzed retrospectively in 174 malignances children with nosocomial infection from Jan 2000 to Jun 2005. RESULTS The incidence rate of nosocomial infection in children patients with malignances during deficiency stage of neutropenia was 67.4%.Nosocomial infection was occurred mainly in the respiratory tract,oral cavity,blood,skin,and intestinal tract of patients.The main pathogens were bacteria(86.8%),and fungal infection was 13.2%.The Gram-negative bacilli were relatively sensitive to imipenem,amikacin,ceftazidine,piperacillin/tazobactam,and ticarcillin/clavulanic acid.The Gram positive cocci were sensitive to vancomycin,imipenem,meropenem,ampicillin/sulbactam,ciprofloxcin and clindamycin.The death rate due to nosocomial infection was 44.4%. CONCLUSIONS There is higher incidence of nosocomial infection in children patients with malignances during the neutropenia stage.Good nursing,intestines disinfection,the usage of granulocyte colony-stimulating factor,a reasonable usage of antibiotics and preventing the fungal infection are good to control nosocomial infection in children malignances.
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AIM: To observe the effects of valproic acid(VPA) and HA14-1 on Bcl-2 overexpressed leukemia cells in vitro and in vivo.METHODS:(1) Cells were divided into control group,HA14-1 group,VPA group and HA14-1+VPA group.The apoptotic rate,the mean fluorescent index(MFI) of Bcl-2,the levels of caspase 3,8 and 9 were detected with FCM.(2) 24 h after transplantation with BALL-1,the NOD/SCID mice were divided into 4 groups as(1),then the survival time was compared.The expression of CD19 in the peripheral blood cells,bone marrows,livers,spleens and lungs of each group was detected.RESULTS:(1) The apoptotic rate in HA14-1+VPA group was(76.5?6.9)%,this was significantly elevated compared to the data in other groups(P
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AIM:To determine the effects of different-term streptozotocin(STZ)-induced diabetes on ischemia/reperfusion(I/R)injury and cell apoptosis in rats myocardial via alterations in myocardial peroxynitrite.METHODS:The models of I/R injury were induced by occlusion and reperfusion of the left descending coronary artery(LDCA)in rats.I/R-induced infarct size was determined using triphenyltetrazolium chloride(TTC)staining.Quantified caspase-3 expression was used to represent apoptosis by Western blotting analysis.Peroxynitrite formation as indicated by nitrotyrosine level was measured by morphometric analysis.RESULTS:Two weeks after STZ treatment,infarct size(35.00%?3.00%)was smaller in 2 weeks diabetic hearts(2WKD)as compared with time-matched control group(2WKC)(51.00%?3.30%),whereas after 16 weeks of diabetes(16WKD),the infarct size(61.00%?3.00%)was bigger in the diabetic hearts as compared with the 16WKC group(50.00%?2.00%,P