The treatment and outcome prediction analysis of pediatric acquired severe aplastic anemia.

Pediatric acquired severe aplastic anemia (SAA), a prevalent non-malignant hematological disorder, presents significant therapeutic challenges and carries considerable risks. Despite substantial progress in immunosuppressive therapy (IST) and allogeneic hematopoietic stem cell transplantation (allo-HSCT) in recent years, the protracted treatment duration, substantial costs, and significant disparities in long-term survival outcomes among patients remain problematic. Identifying predictors of treatment response before therapy initiation is crucial for optimal clinical decision-making and complication prevention.

The heat shock protein DNAJB2 as a novel biomarker for essential thrombocythemia diagnosis associated with immune infiltration.

Background And Objective: Essential thrombocythemia (ET) is a rare myeloproliferative malignancy which may lead to severe thrombohemorrhagic complications. The diagnosis of ET is primarily based on bone marrow morphology and exclusion of other possibilities of myeloproliferative neoplastic diseases; the lack of gene biomarkers fails to provide a prompt diagnosis of ET. Therefore, this study was designed to identify biomarkers for early ET diagnosis, especially that associated with immune cell infiltration, by using the Gene Expression Omnibus (GEO) database and machine-learning algorithms.

Integrating RNA-seq and scRNA-seq to explore the biological significance of NAD + metabolism-related genes in the initial diagnosis and relapse of childhood B-cell acute lymphoblastic leukemia.

Background: Nicotinamide Adenine Dinucleotide (NAD) depletion is reported to be a potential treatment for B-cell Acute Lymphoblastic Leukemia (B-ALL), but the mechanism of NAD metabolism-related genes (NMRGs) in B-ALL relapse remains unclear.

Methods: Transcriptome data (GSE3912), and single-cell sequencing data (GSE130116) of B-ALL patients were downloaded from Gene Expression Omnibus (GEO) database. NMRGs were sourced from Kyoto Encyclopedia of Genes and Genomes (KEGG) and Reactome databases.

[Construction of Nalm6-Cas9 Cell Line for Genome-Wide Translocation Sequencing].

Objective: In order to conduct high-throughput genome-wide translocation sequencing based on CRISPR/Cas9, Nalm6-cas9 monoclonal cell line expressing Cas9 protein was constructed by lentivirus transduction.

Methods: Lentiviral vectors LentiCas9-Blast, pSPAX2, and pMD2.G were used to co-transfect HEK293T cells to obtain recombinant lentivirus.

[Relationship between Single Nucleotide Polymorphisms of IL2RA, IL-10 Gene and Epstein-Barr Virus Associated Hemophagocytic Lymphohistiocytosisin in children].

Objective: To investigate the correlation of single nucleotide polymorphisms (SNPs) of IL2RA and IL-10 gene with the pathogenesis of Epstein Barr Virus associated hemophagocytic lymphohistiocytosis (EBV-HLH) in children and the effect of correlated SNPs on the prognosis of children with EBV-HLH.

Methods: For EBV-HLH group (51 cases), EBV-associated infectious mononucleosis (EBV-IM) group (48 cases) and EBV-positive healthy children group (52 cases), the genotypes at rs2104286, rs12722489, rs11594656 of IL2RA gene and rs1800896, rs1800871 and rs1800872 of IL-10 gene were detected with the SNaPshot technique. The distribution differences of genotype frequency and allele frequency of each SNP in each group were analyzed, and the correlated SNPs were taken as the research object for survival analysis.

Evaluation of Insulin-mediated Regulation of AKT Signaling in Childhood Acute Lymphoblastic Leukemia.

Objective: Hyperglycemia increases the risk of early recurrence and high mortality in some adult blood cancers. In response to increased glucose levels, insulin is secreted, and several studies have shown that insulin-induced AKT signaling can regulate tumor cell proliferation and apoptosis. The AKT pathway is aberrantly activated in adult acute lymphoblastic leukemia (ALL), but the mechanisms underlying this activation and its impact in pediatric patients with ALL are unclear.

Modified conditioning regimen improves outcomes of unrelated donor peripheral blood stem cell transplantation for β-thalassaemia major patients.

Background: The objective of this study was to evaluate the feasibility of a modified conditioning regimen for the treatment of patients with β-thalassaemia major (TM), using unrelated donor peripheral blood stem cell transplantation (UD-PBSCT).

Methods: A modified conditioning regimen based on intravenous busulfan, cyclophosphamide, fludarabine, and antithymocyte globulin was performed in 50 consecutive childhood patients with β-TM and a median age of 4.6 years (range, 2-12 years).

[Familial Haemophagocytic Lymphohistiocytosis Occurs in A Fetus at His Third Trimester-A Case Report].

Objective: To analyze the clinical features and pathogenetic gene mutation in a fetus at his third trimester with familial haemophagocytic lymphohistiocytosis (FHL).

Methods: Target region sequencing and high-throughput sequencing were used to detect pathogenetic gene mutations for familial haemophagocytic lymphohistiocytosis in a late onset HLH fetus. Pathogenetic gene mutations of the patient and his parents were verified by Sanger dideoxy sequencing.

Clinical presentation and outcome of pediatric patients with hemophagocytic lymphohistiocytosis in China: A retrospective multicenter study.

Background: Hemophagocytic lymphohistiocytosis (HLH) is a heterogeneous disease with major diagnostic and therapeutic difficulties. A large-scale multicenter study of pediatric HLH is still lacking in China.

Procedure: The Histiocytosis Study Group of the Chinese Pediatric Society conducted this retrospective study in 2014.

[Outcome Comparison of Pediatric Langerhans Cell Histiocytosis Treated with Modified DAL-HX83/90 or JLSG-96 Protocol].

Objective: To analyze and compare the clinical features, treatment and prognosis of 31 children with Langerhans cell histiocytosis(LCH) treated with modified DAL-HX83/90 or JLSG-96 protocol.

Methods: The clinical features, treatment and prognosis of 31 children with Langerhans cells admitted in our hospital from January 2005 to December 2014 were analyzed retrospectively. The outcome of patients treated with modified DAL-HX83/90 or JLSG-96 protocols were compared by using the Kaplan-Meier survival curve.

Correlation analysis of severe aplastic anemia immunosuppressive therapy and human leukocyte antigen alleles in pediatric patients.

The aim of the present study was to investigate the correlation between the efficacy of immunosuppressive therapy (IST) in children with severe aplastic anemia (SAA) and human leukocyte antigen (HLA) alleles. The polymerase chain reaction-sequence based typing high-resolution genotyping method was used to profile the HLA alleles of 115 SAA cases that were treated with rabbit-antithymocyte globulin (r-ATG) + cyclosporine (CsA) immunosuppressive therapy and 222 normal control subjects. The aim was to compare the frequency distribution of HLA alleles among the IST-effective group, the IST-ineffective group and the healthy control group.

[Antifungal azoles exacerbate vinblastine-related hyponatremia in ALL children].

The purpose of this study was to investigate the clinical characteristics and the treatments of patients with vinblastine-related hyponatremia which was aggravated by azole antifungal agents in children with acute lymphoblastic leukemia(ALL). A total of 93 children treated with vinblastine in our department during April 2013 to March 2014 were enrolled in this study and were divided into 3 groups:VDLD, VDLD with azoles antifungal, VDLD with non azoles antifungal. The incidence and severity of hyponatremia were statistically analysed.

[Hyperglycemia during chemotherapy influences the prognosis of children with acute lymphocytic leukemia].

This study was aimed to explore whether hyperglycemia during chemotherapy influences the prognosis of children with acute lymphocytic leukemia (ALL). The clinical medical records of all newly diagnosed patients with ALL at SUN Yat-Sen Memorial Hospital from June 2008 to May 2012 were analyzed retrospectively. The median time of follow-up for patients was 2.

[Therapeutic efficacy evaluation of rabbit anti-thymocyte globulin combined with cyclosporine A in children with aplastic anemia].

This study was aimed to investigate the therapeutic efficacy of rabbit anti-thymocyte globulin (r-ATG) combined with cyclosporine A (CsA) and to analyse the efficacy-related factors in children with aplastic anemia (AA). Twenty five AA children treated with r-ATG [3.5 mg/(kg·d)×5 days] combined with CsA were analyzed retrospectively.

[Treatment of children with multiple system Langerhans cell histiocytosis by Japan Langerhans Cell Histiocytosis Study Group Protocol].

The purpose of this study was to evaluate the efficiency of Japan Langerhans Cell Histiocytosis Study Group (JLSG) Protocol in treatment of children suffering from multiple system langerhans cell histiocytosis (MS-LCH). The clinical features, therapeutic response and prognosis of 11 children who were diagnosed and treated by JLSG in our department during October 2004 through October 2011 were analyzed. Among all 11 cases, 8 males and 3 females, the age at diagnosis was from 3 month to 6.

[Analysis of one case of adolescent blastic plasmacytoid dendritic cell neoplasm].

This study was purposed to summarize the clinical characteristics and laboratorial data of blastic plasmacytoid dendritic cell neoplasm (BPDCN) in pediatric patients in order to enhance understanding this disease in diagnosis and therapy. A rare case of BPDCN in children was enrolled in this study. The blood routine test, examination of bone marrow cell morphology, histopathology and immunophenotype of the skin lesions were performed and analysed, the single cell suspensions of the biopsied skin mass were detected by flow cytometry.

Rabbit-antithymocyte globulin combined with cyclosporin A as a first-line therapy: improved, effective, and safe for children with acquired severe aplastic anemia.

Purpose: Acquired aplastic anemia is an organ-specific auto-immune disease characterized by pancytopenia and hypoplastic bone marrow. Immunosuppression with anti-thymocyte globulin (ATG) and cyclosporine A (CsA) is an effective and safe therapy for patients without undergoing hematopoietic stem cell transplantation. The aim of the current study was to investigate the effect of rabbit-ATG (r-ATG) combined with CsA as an intensive immunosuppressive therapy (IST) for acquired severe aplastic anemia (SAA) in children.

[Analysis of PTPN11 mutation in children leukemia and its clinical significance].

This study was aimed to explore the frequency of PTPN11 mutation in children with leukemia and its clinical significance. Genomic DNAs were extracted from peripheral leukocytes of 131 patients with leukemia, including 101 cases of ALL, 26 cases of AML, 3 cases of CML and 1 case of juvenil myelomonocytic leukemia (JMML). The sequences of PTPN11 exons 3, 8, 13 were amplified by polymerase chain reaction (PCR), and the clinical characteristics of positive patients were analyzed.