Clinical features and management of germline CEBPA-mutated carriers.

Familial acute myeloid leukemia (AML) pedigrees with germline CCAAT/enhancer-binding protein-α (CEBPA) mutation have been rarely reported due to insufficient knowledge of their clinical features. Here, we report two Chinese families with multiple AML cases carrying germline CEBPA mutations, one of which had 11 cases spanning four consecutive generations. Additionally, we collected clinical data of 57 AML patients from 22 families with germline CEBPA mutations, with 58.

A life-threatening bleeding prediction model for immune thrombocytopenia based on personalized machine learning: a nationwide prospective cohort study.

Rare but critical bleeding events in primary immune thrombocytopenia (ITP) present life-threatening complications in patients with ITP, which severely affect their prognosis, quality of life, and treatment decisions. Although several studies have investigated the risk factors related to critical bleeding in ITP, large sample size data, consistent definitions, large-scale multicenter findings, and prediction models for critical bleeding events in patients with ITP are unavailable. For the first time, in this study, we applied the newly proposed critical ITP bleeding criteria by the International Society on Thrombosis and Hemostasis for large sample size data and developed the first machine learning (ML)-based online application for predict critical ITP bleeding.

3-Ketodihydrosphingosine reductase maintains ER homeostasis and unfolded protein response in leukemia.

Sphingolipids and their metabolic pathways have been implicated in disease development and therapeutic response; however, the detailed mechanisms remain unclear. Using a sphingolipid network focused CRISPR/Cas9 library screen, we identified an endoplasmic reticulum (ER) enzyme, 3-Ketodihydrosphingosine reductase (KDSR), to be essential for leukemia cell maintenance. Loss of KDSR led to apoptosis, cell cycle arrest, and aberrant ER structure.

The prognostic value of the peripheral blood cell counts changes during induction chemotherapy in Chinese patients with adult acute myeloid leukemia.

To investigate the prognostic value of the circulating peripheral blood cell counts changes in acute myeloid leukemia (AML) at different time points during induction chemotherapy.We retrospectively analyzed the clinical and laboratory data of 237 newly diagnosed AML patients admitted to Fujian Medical University Union Hospital from January 2011 to December 2014.1.

Protective effects of a novel water-soluble biphenyl compound WLP-S-14 against acute-on-chronic liver failure in rats.

This study investigated the therapeutic effects of a water-soluble biphenyl compound, WLP-S-14, in acute-on-chronic liver failure (ACLF). Wistar rats were injected intraperitoneally with porcine serum twice a week for 8 weeks prior to administration of 600 mg/kg D-galactosamine and 50 μg/kg lipopolysaccharide to induce ACLF. Study groups were treated intravenously with saline or with 100 or 200 mg/kg WLP-S-14.

In vivo administration of recombinant BTNL2-Fc fusion protein ameliorates graft-versus-host disease in mice.

Although hematopoietic stem cell transplantation (HSCT) has been widely used in the treatment of many diseases, graft-versus-host disease (GVHD) remains a major complication after allogeneic HSCT. Butyrophilin-like 2 (BTNL2) protein has been reported to have the ability to inhibit T cell proliferation in vitro; its ability to inhibit T cell responses in vivo has not been determined. We show here that in vivo administration of recombinant BTNL2-IgG2a Fc (rBTNL2-Ig) fusion protein ameliorates GVHD in mice.

Prognostic value and susceptibility of BAX rs4645878 polymorphism in cancer: A systematic review and meta-analysis.

Background: BCL-2 Associated X (BAX) is an important modulator of apoptosis. The associations between BAX gene polymorphism and cancer susceptibility and prognosis in different ethnic groups and types of cancer have yielded controversial results. To reconcile the results, a systematic review followed by meta-analysis was performed to assess the associations.

ETS1 and SP1 drive DHX15 expression in acute lymphoblastic leukaemia.

DHX15 plays a role in leukaemogenesis and leukaemia relapse. However, the mechanism underlying the transcriptional regulation of DHX15 in ALL has not been elucidated. Our present study aimed to explore the functional promoter region of DHX15 and to investigate the transcription factors controlling the transcription of this gene.

Lentivirus-mediated RNA interference targeting inhibits cell growth and enhances cell differentiation of acute myeloid leukemia partially differentiated cells via inhibition of AKT and c-MYC.

Genetic heterogeneity is the basis of clinical heterogeneity among different subtypes of AML. We have successfully cloned a gene related to AML termed from a FAB-M2 patient's sample of a second largest AML pedigree. Then we revealed at least three splice variants, named as , and , and found miR181a1/b1 in the second intron of FAMLF gene family.

DHX15 is associated with poor prognosis in acute myeloid leukemia (AML) and regulates cell apoptosis via the NF-kB signaling pathway.

The role of , a newly identified DEAH-box RNA helicase, in leukemogenesis remains elusive. Here, we identified a recurrent mutation in (NM_001358:c.664C>G: p.

C-Myc functions as a competing endogenous RNA in acute promyelocytic leukemia.

Recent reports have described a new post-transcriptional regulation that RNA transcripts can crosstalk with each other by competing for their common microRNAs. These RNA transcripts termed competing endogenous RNAs (ceRNAs) regulate the distribution of miRNAs on their targets. One corollary from ceRNA interaction is that chromosomal translocation in acute promyelocytic leukemia (APL) would perturb ceRNA regulation due to altered expression of 3'UTRs.

[Recent advances in study of sphingolipids on liver diseases].

Sphingolipids, especially ceramide and S1P, are structural components of biological membranes and bioactive molecules which participate in diverse cellular activities such as cell division, differentiation, gene expression and apoptosis. Emerging evidence demonstrates the role of sphingolipids in hepatocellular death, which contributes to the progression of several liver diseases including ischaemia-reperfusion liver injury, steatohepatitis or hepatocarcinogenesis. Furthermore, some data indicate that the accumulation of some sphingolipids contributes to the hepatic dysfunctions.

Prognostic significance of ASXL1 mutations in myelodysplastic syndromes and chronic myelomonocytic leukemia: A meta-analysis.

Objectives: Although additional sex comb-like 1 (ASXL1) gene mutations have long been reported in myelodysplastic syndromes (MDSs) and chronic myelomonocytic leukemia (CMML), the prognostic significance has been controversial. Therefore, a meta-analysis to study the impact of ASXL1 mutations on patients with MDS and CMML is useful.

Methods: The identified articles were retrieved from some common databases.

Positional cloning and next-generation sequencing identified a TGM6 mutation in a large Chinese pedigree with acute myeloid leukaemia.

An inherited predisposition to acute myeloid leukaemia (AML) is exceedingly rare, but the investigation of these families will aid in the delineation of the underlying mechanisms of the more common, sporadic cases. Three AML predisposition genes, RUNX1, CEBPA and GATA2, have been recognised, but the culprit genes in the majority of AML pedigrees remain obscure. We applied a combined strategy of linkage analysis and next-generation sequencing (NGS) technology in an autosomal-dominant AML Chinese family with 11 cases in four generations.

Clinical significance of detecting lymphatic and blood vessel invasion in stage II colon cancer using markers D2-40 and CD34 in combination.

This research was conducted to compare differences in colon cancer lymphatic vessel invasion (LVI) with D2-40 antibody labeling and regular HE staining, blood vessel invasion (BVI) with CD34 antibody labeling and HE staining and to assess the possibility of using D2-40-LVI/CD34-BVI in combination for predicting stage II colon cancer prognosis and guiding adjuvant chemotherapy.Anti-D2-40 and anti-CD34 antibodies were applied to tissue samples of 220 cases of stage II colon cancer to label lymphatic vessels and small blood vessels, respectively. LVI and BVI were assessed and multivariate COX regression analysis was performed for associations with colon cancer prognosis.

[Proliferation promotion and apoptotic inhibition effects of ribosomal protein RPL36A small interference RNA on U937 cells].

This study was purposed to investigate the expression of RPL36A (ribosomal protein 36a) in the newly diagnosed acute myeloid leukemia (AML) cells and its mechanism at the molecular level. The RPL36A mRNA expression in the newly diagnosed AML cells, U937 cells and normal MNCs was determined by RT-PCR. Small interfering RNA (siRNA) targeting to RPL36A was transfected into U937 cells by Lipofectamine 2000 system.

[Full-length cDNA cloning and biological function analysis of a novel gene FAMLF related to familial acute myelogenous leukemia].

Objective: To clone the full-length cDNA of a novel gene related to familial acute myelogenous leukemia (AML) and to demonstrate its molecular mechanisms on the gene level.

Methods: Bone marrow specimen was obtained from a patient of familial AML, male, aged 11, and peripheral blood samples were obtained from 23 AML patients outside this family, 9 normal persons in this family, and 23 normal persons outside this family. Based on the EST sequence zywb87 (GenBank accession number: CV973101) from a subtractive cDNA library of differential expressed genes constructed in familial AML, SMART-rapid amplification of cDNA ends (SMART-RACE) was applied to clone the full-length cDNA of the novel gene, and bioinformatics was used to predict its biological function, the expression of the novel gene in AML was detected by One-Step RT-PCR.

[Full-length cloning of a novel gene, ELF2C, related to familial acute myelogenous leukemia].

Objective: To clone the full-length cDNA of a novel gene of familial acute myelogenous leukemia and to explain the molecular mechanism of the disease at the gene level.

Methods: Based on a EST sequence (zywb4) from a subtractive cDNA library of specially or differentially expressed genes constructed in familial acute myelogenous leukemia, electronic cDNA cloning and SMART-rapid amplification of cDNA ends (SMART-RACE) were used to clone the full-length cDNA of a novel associated gene of familial acute myelogenous leukemia.

Results: One sequence of 2257 bp was obtained, which obeyed Kozak rules, and contained an open reading frame (ORF) and a polyA tail.

[Identification of differentially expressed genes in familial acute myelogenous leukemia by suppression subtractive hybridization].

Objective: To isolate genes expressed differentially from the bone marrow cells of patients with familial acute myelocytic leukemia and to explain the molecular mechanisms of the disease at the gene level.

Methods: Bone marrow cells were obtained from a family with cases of familial acute myelocytic leukemia for successive 4 generations. Super SMART cDNA synthesis and suppression subtractive hybridization (SSH) were performed to set up a subtractive cDNA library of specially or highly expressed genes.

[Down-regulation of expression of survivin and induction of apoptosis in the human Burkitt lymphomas cells by ligation of CD40-CD40L].

Objective: To study the biological effects of ligation of CD40 mediated by soluble recombinant human CD40 ligand (srhCD40L) on the human malignant hematogenous cells and to explore the molecular mechanism thereof.

Methods: Human Burkitt lymphoma cells of the line CA46 were cultured. Flow cytometry was used to detect the expression of CD40 molecule on the cell surface.

[Expression of antigen CD40 and survivin gene and their clinical implications in acute myeloid leukemia].

Objective: To evaluate the expressions of CD40 antigen and anti-apoptosis gene survivin in acute myeloid leukemia (AML) and their clinical significance.

Methods: By using flow cytometry (FCM) and reverse transcriptase polymerase chain reaction (RT-PCR), CD40 antigen and anti-apoptosis gene survivin mRNA were studied in 48 AML cases and their association with the clinical features of AML was analysed.

Results: (1) In the 48 AML cases, positive expression of CD40 antigen was found in 25 cases (52.

[Effects of SCL antisense ooligonucleotides on K562 and CEM cell lines].

The stem cell leukemia (SCL) gene is a new oncogene related with leukemogenesis. To explore the effects of antisense oligonucleotides of SCL on leukemic cells, SCL antisense phosphorothioate oligodeoxynucleotides (AS-PS-ODN) were used to treat K562 and CEM leukemic cell lines to observe the effects on proliferation, differentiation, apoptosis and SCL mRNA expression in the cells. The results showed that incubation of K562 or CEM cells with AS-PS-ODN at different concentrations led to inhibition of cell proliferation, and the inhibitory effects varied with the incubation time.