Diagnosis, treatment and genetic analysis of an elderly patient with Gaucher's disease characterized by marked multiple bone destruction.

Gaucher's disease is a rare autosomal recessive genetic disease. Due to the decrease or lack of glucocerebrosidase () activity in lysosome caused by the mutation of gene, its substrate glucocerebroside is detained in lysosome, resulting in clinical manifestations of liver, spleen, kidney, bone, hematopoietic system and even nervous system involvement. Here, we report a case of elderly patient presenting marked multiple bone destruction, with childhood medical history of splenectomy and "osteomyelitis".

Albumin-to-Fibrinogen Ratio as an Independent Prognostic Parameter in Untreated Chronic Lymphocytic Leukemia: A Retrospective Study of 191 Cases.

Purpose: Chronic lymphocytic leukemia (CLL) is one of the most frequent type of B-cell chronic lymphoproliferative disorders and chronic inflammation takes part in the development of CLL. However, there has been no valid immune biomarker to predict the prognosis of untreated CLL patients.

Materials And Methods: In this retrospective study, we analyzed the clinical correlations and prognostic value of albumin-to-fibrinogen ratio (AFR) detected at diagnosis in 191 CLL patients.

Hyperfibrinogenemia is a poor prognostic factor in diffuse large B cell lymphoma.

Diffuse large B cell lymphoma (DLBCL) is the most common subtype of non-Hodgkin lymphomas worldwide. Previous studies indicated that hyperfibrinogenemia was a poor predictor in various tumors. The purpose of our study was to evaluate the prognostic effect of hyperfibrinogenemia in DLBCL.

High-resolution epitope mapping by HX MS reveals the pathogenic mechanism and a possible therapy for autoimmune TTP syndrome.

Acquired thrombotic thrombocytopenic purpura (TTP), a thrombotic disorder that is fatal in almost all cases if not treated promptly, is primarily caused by IgG-type autoantibodies that inhibit the ability of the ADAMTS13 (a disintegrin and metalloproteinase with a thrombospondin type 1 motif, member 13) metalloprotease to cleave von Willebrand factor (VWF). Because the mechanism of autoantibody-mediated inhibition of ADAMTS13 activity is not known, the only effective therapy so far is repeated whole-body plasma exchange. We used hydrogen-deuterium exchange mass spectrometry (HX MS) to determine the ADAMTS13 binding epitope for three representative human monoclonal autoantibodies, isolated from TTP patients by phage display as tethered single-chain fragments of the variable regions (scFvs).

Haploidentical hematopoietic stem cell transplantation following myeloablative conditioning regimens in hematologic diseases with G-CSF-mobilized peripheral blood stem cells grafts without T cell depletion: a single center report of 38 cases.

Many Chinese patients with hematologic diseases, who need allogeneic hematopoietic stem cell transplantation (HSCT), lack a human leukocyte antigen-matched donor. To save these patients and to avoid collecting donor bone marrow graft, we adopted haploidentical peripheral blood HSCT with granulocyte colony stimulating factor (G-CSF) mobilized peripheral blood stem cells as the grafts without ex vivo T cell depletion. Thirty-eight patients were enrolled, and they received myeloablative preconditioning.

Assessment of clonality in T-cell large granular lymphocytic leukemia: flow cytometric T cell receptor Vβ repertoire and T cell receptor gene rearrangement.

The usefulness of flow cytometric variable β-chain repertoire (FC-Vβ) and T-cell receptor gene rearrangement (TCR-GR) analyses for differentiating T-cell large granular lymphocytic leukemia (T-LGLL) from reactive T-large granular lymphocyte (T-LGL) lymphocytosis has been insufficiently studied to date. In this study, we analyzed the diagnostic value of TCR-GR and FC-Vβ analysis in T-LGLL, and compared these results. In our study, FC-Vβ analysis was positive in all cases of T-LGLL, and clonality assessment of FC-Vβ had equal sensitivity and specificity to GeneScanning analysis but was more sensitive than heteroduplex analysis.

Downregulated Dicer expression predicts poor prognosis in chronic lymphocytic leukemia.

Chronic lymphocytic leukemia (CLL) is the most common leukemia in the western world. Alterations in microRNAs (miRNAs) expression have been proposed to play a role in CLL pathogenesis. Dicer and Drosha are the main regulators of miRNA biogenesis, and deregulation of their expression has been indicated as a possible cause of miRNA alterations observed in various cancers.

[Standard-dose of idarubicin in combination with continuous infusion of cytarabine as induction therapy in patients with acute myeloid leukaemia].

The objective of this study was to investigate the efficacy and toxicity of standard-dose idarubicin in combination with continuous infusion of cytarabine as induction therapy in patients with acute myeloid leukemia (AML). A total of 38 AML patients were enrolled, including 30 new diagnosed patients, 8 relapsed and refractory patients. Cytogenetic analysis was performed in all patients, 15 patients had cytogenetic aberrations including 4 complex abnormalities.

[Effects of human bone marrow mesenchymal stem cells on proliferation and apoptosis of K562 cells].

This study was aimed to compare K562 cell proliferation, cell cycle and apoptosis before and after adhesive culture with MSCs of the same and different counts, so as to investigate the effect of human bone marrow mesenchymal stem cells (MSCs) on the growth of K562 cells. Culture system of bone marrow MSCs and co-culture system of K562 cells and BMSCs in vitro were established. And K562 cell proliferation curves were drawn by co-cultured of K562 cells with different counts of BMSCs.

[Allogeneic peripheral blood stem cell transplantation for 75 cases of hematologic malignancies].

The aim of this study was to explore the clinical effect and complications of allogeneic peripheral blood stem cell transplantation (allo-PBSCT) in hematologic malignancies through retrospective analysis of 75 patients (42 male, 33 female; aged from 13 to 72 years old) received allo-PBSCT from HLA matched (n=61) or haploidentical donors (n=14). 75 patients included 35 patients with chronic myeloid leukemia (CML), 30 patients with acute myeloid leukemia, 5 patients with severe aplastic anemia, 3 patients with acute lymphocytic leukemia, one patients with multiple myeloma and one patients with paroxysmal nocturnal hemoglobinuria. Conditioning regimens were (1) Cy/TBI or Bu/Cy; (2) Cy/TBI+Ara-C; (3) fludarabine+TBI/or (CTX+ATG).

[Analysis of complex chromosomal aberrations in patients with myelodysplastic syndromes using multiplex fluorescence in situ hybridization combined with whole chromosome painting].

Objective: To explore the value of multiplex fluorescence in situ hybridization (M-FISH) in combination with whole chromosome painting (WCP) in the detection of complex chromosomal aberrations (CCAs) in myelodysplastic syndromes (MDS).

Methods: M-FISH was used in seven MDS patients with R-banding CCAs to refine the complex chromosomal rearrangements, and to identify cryptic translocations and characterization of marker chromosomes. Dual-color WCP procedures were further performed in 7 cases to confirm some rearrangements detected by M-FISH.

[Expression of P27(Kip1) and its clinical significance in acute and chronic leukemia].

To evaluate the expression of cyclin dependent kinase inhibitor P27(Kip1) in leukemia and to investigate its clinical significance, the P27(Kip1) protein in bone marrow or peripheral blood samples from 82 cases of leukemia was measured by Western blot and enhanced chemoluminescence (ECL). The results showed that the expression of P27(Kip1) protein in ALL was higher than that in ANLL (P = 0.033) and also that in CML (P = 0.