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PubMed1975

[Culture of human bone marrow. Counts of colony forming granulocytes and macrophages in 100 patients without hematologic diseases].

Bone marrow suspensions from non hematologic patients have been cultured in methyl cellulose, with conditioned medium prepared with normal peripheral blood cells. The granulocytic-monocytic colony forming cell (G-CFC) can give rise to colonies, which were counted on the 14th day. The mean G-CFC number is 38 +/- 26 when 2.10(5) cells are cultured. The striking disparity from one patient to an other cannot be explained by the culture conditions, nor by the clinical status. There is no sex difference; older patients have a significant reduction of the colony numbers compared to younger patients.

Age Factors↗
PubMed1994

[Molecular study of hematological diseases].

With the recent advances in molecular technology, diagnostic procedures of the diseases at a DNA level have been introduced in hematological fields. The diagnostic methods used are Southern blotting to detect gene rearrangements, Northern blotting to find gene expressions, RT-PCR (reverse transcriptase-polymerase chain reaction) to identify transcribed fusion messages, and PCR-SSCR (single strand conformation polymorphism) to detect mutated genes. Rearrangements within major Bcr (breakpoint cluster region) were observed in almost all cases in chronic myelogenous leukemia, and breakpoint were found within minor Bcr in Philadelphia-positive leukemia. The rearrangements within the second intron of the retinoic acid receptor-alpha and sixth intron (bcr 1), third intron (bcr 3) and sixth exon (bcr 2) of the PML gene were detected in all cases with acute promyelocytic leukemia. In malignant lymphoma, the rearrangements of immunoglobulin and T-cell receptor genes, and new genes such as Bcl-1, Bcl-2, Bcl-5, Tal-1, and Tal-2 were also reported and rearrangements of the Bcl-5 gene were found in this study using Bcl-5 specific probe which we have cloned. Point mutations and deletions of the genes involved in the coagulation and fibrinolysis system have been reported. One base insertion resulting in elongation of carboxy terminal region and one amino acid deletion in alpha 2-plasmin inhibitor gene were found in two cases of its deficiency. Further study revealed that mutated proteins were retained in the endoplasmic reticulum in the cells. With the development of the PCR method, identification of gene mutation is gradually carried out as a routine work.

DNA↗
PubMed2000

[Chromosomal abnormalities in malignant hematologic diseases].

The inclusion of cytogenetic studies in the protocol study of patients with hematological malignant diseases is a very important contribution because these results contribute to establish better precision of diagnosis, prognostic and suggest adequate therapeutic management precociously. The Karyotypes of 200 patients between ages of 2 and 84 years, 56/200 acute lymphoblastic leukemia (ALL), 55/200 acute myeloid leukemia (AML), 63/200 chronic myeloid leukemia (CML), 20/200 myelodysplastic syndrome (MDS), and 6/200 chronic lymphocytic leukemia, (CLL), are analyzed. Certain differences were noted. In ALL, hyperdiploidy was the chromosomal abnormality more frequently observed and no cases of Ph+ chromosome were reported; with respect to AML, the autosomal monosomy and trisomy were the most frequent findings. MDS reports only one case with 5q deletion, 10% of patients presented trisomy 14, rarely reported. CML do no report any case with double Ph+ and only one case with i(17q); nevertheless, one case with 21q deletion was found, which is an unreported anomaly. CLL did not present any case with trisomy 12. These findings are discussed in the context of geographical heterogeneity of chromosomal abnormalities in leukemia, and emphasize the importance of continued epidemiological studies.

Acute Disease↗