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Objective@#To study the diagnostic strategy of β-thalassemia through retrospective analysis of 3 cases of β-thalassemia.@*Methods@#Three patients were admitted to the Department of Pediatrics, Sun Yat-sen Memorial Hospital of Sun Yat-sen University from January 2014 to June 2015. The clinical manifestations, hemoglobin electrophoresis and gene detection of these patients and their parents were analyzed, diagnostic ideas and key points were discussed when beta thalassemia gene detection did not explain clinical manifestations or hemoglobin electrophoresis.@*Results@#Case 1, boy, 5 years old, was diagnosed as compound heterozygotes of β41-42 and IVS-Ⅱ-654 with hereditary persistence of fetal hemoglobin(HPFH) according to the clinical manifestations of mild anemia, normal size of liver and spleen, 92.8% fetal hemoglobin (HbF) and gene analysis. Case 2, girl, 3 years old, was confirmed the diagnosis of thalassemia intermedia with β41-42 heterozygote compound and αααanti3.7 heterozygote in accordance with the manifestations of severe anemia, hepatosplenomegaly, 8.6% HbF, 4.1% hemoglobin A2(HbA2) and gene analysis. Case 3, girl, 3 years old, with severe anemia, hepatosplenomegaly, 51.2% HbF and 3.7% HbA2, was diagnosed as thalassemia major with compound heterozygotes of PolyA (T→C) and β17 by DNA sequencing.@*Conclusion@#The diagnosis of β-thalassemia should be confirmed by clinical manifestations of hemolytic anemia, hemoglobin electrophoresis, gene diagnosis and family survey.
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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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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
BACKGROUND: Hemorrhagic cystitis (HC) is one of common complications in patients undergoing hematopoietic stem cell transplantation (HSCT). It is of great value for improvement in the HSCT outcome to describe the clinical characteristics of HC and risk factors. OBJECTIVE: To investigate the incidence of HC in children after HSCT, and to analyze its clinical characteristics and risk factors.DESIGN: Case analysis SETTING: Center of Hematopoietic Stem Cell Transplantation, Department of Pediatrics, Second Affiliated Hospital of Sun Yat-sen University.PARTICIPANTS: Experiments were performed at the Center of Hematopoietic Stem Cell Transplantation, Department of Pediatrics of Second Affiliated Hospital of Sun Yat-sen University from October 1998 to June 2004. Eighty-eight patients receiving umbilical cord blood transplantation (UCBT) and peripheral blood stem cell transplantation (PBSCT) were enrolled; 49 were males and 39 were females. The age ranged from 2 to 18 years with an average of 8.0 years. Guardians of child patients signed informed consents. The experimental procedures were approved by Medical Ethics Committee.METHODS: ①Conditioning regimens included combination of cyclophosphamide (CY, 120-200 mg/kg) with busulphan (BU, 14-20 mg/kg)-based chemotherapy and combination of CY with total body irradiation (TBI, 2-8 Gy) or total lymphoid irradiation (TLI, 2-8 Gy)-based radiotherapy. ②HC was defined according to the criteria proposed by references 7 and 8. The incidence, clinical characteristics, laboratory examination, treatment and outcome for HC were described. The association of various clinical factors including age, gender, human leucocyte antigen (HLA) typing, diseases for transplant, the type of stem cell, the type of transplantation, the occurrence of acute graft-versus-host disease (aGVHD) and cytomegalovirus (CMV) infection with the development of HC were examined.MAIN OUTCOME MEASURES: ①Incidence of HC, ②HC patient characteristics and laboratory examination, ③HC treatment and outcome, and ④risk factors analysis. RESULTS: All 88 patients were included in the final analysis. ①The incidence of HC: 16 patients (18.2%, 16/88) developed HC post-transplant with the severity graded as mild in 11 cases (68.7%) and severe in 5 cases (31.3%). ②HC patient characteristics and laboratory examination: All had hematuria and 8 cases (50.0%) had typical pollakisuria, urinary urgency, odynuria and gross hematuria; 10 cases (62.5%) had gross hematuria and 11 had proteinuria (+ to +++); Leucocytes were detected in 7 cases. ③Treatment and outcome: All patients recovered at a median of 13.5 days (range 2-53 days). ④Risk factors analysis: The incidence of HC was significantly higher in the group of ≥ 6 years old, presence of aGVHD and development of cytomegalo-virus (CMV) infection (P < 0.05-0.01). CONCLUSION: ①HC has its own clinical characteristics following HSCT in children but with good prognosis. ②The risk factors for HC are ≥ 6 years old, presence of aGVHD and CMV infection.
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BACKGROUND: Panel reaction antibody (PRA) plays an important role in rejection of recipients undergoing solid organ transplantation, which has a positive effect on nonfunction of implant. OBJECTIVE: To evaluate the effect of thalassemic serum-specific PRA on the proliferation and differentiation of umbilical cord blood hernatopoetic stem/progenitor cells (HSC/HPCs) in children patients with thalassemia. DESIGN, TIME AND SETTING: The in vitro cytology experiment was performed at the Experimental Research Center, Second Affiliated Hospital, Zhongshan University from January 2006 to August 2007. MATERIALS: Five samples of umbilical cord blood from healthy full-term birth puerperants (each 80 100 mL) were used in this study. PRA serum samples of children patients with thalassemia after repetitive blood transfusion, five samples of AB blood grouping serum, and six samples of positive anticoagulation vein blood (10 mL) were used in the study. METHODS: Mononuclear cells were harvested from umbilical cord blood by Ficoll-Hypaque gradient centrifugation. 1 × 105 rnononuclear cells from umbilical cord blood were incubated with different levels of experimental or AB control serum (0, 50, 100 μ L) from healthy children. The mixture mentioned above was incubated with rabbit complement for semisolid colony culture.MAIN OUTCOME MEASURES: Colony-forming units (CFU) were counted and observed after 7 days and 14 days of culture under an inverted microscope.RESULTS: After incubation with HSC/HPCs PRA serum, total number of CFUs and varied CFUs decreased to different extents, of which the total number of CFUs and CFU- granulocyte-rnacrophages (CFU-GM) had significant differences (P < 0.01). Moreover, there were negative correlations between different levels of serum PRA and the followings: number of total colonies, CFU- GM, CFU- granulocyte-erythrocyte-monocyte-megakaryocytes, CFU-erythroids, burst forming unit-megakaryocytes, and CFU-megakaryocytes (P < 0.05).CONCLUSION: The thalassemic serum PRA has an apparent inhibitory effect on the proliferation and differentiation of cord blood HSC/HPCs in vitro, an effect that may be pronounced with increasing serum PRA.