[Refractory diseases. 4. Epidemiology of hematological diseases].
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BACKGROUND: Patients with hematologic diseases are highly susceptible to infection. Conventional tests often have low sensitivity. Metagenomic next-generation sequencing (mNGS) can detect many pathogens at once, but its clinical value depends on how the results are interpreted. It is often hard to tell true infection from colonization or contamination. METHODS: We retrospectively studied hospitalized hematologic patients Only adult patients (≥18 years) who received mNGS for the first time. Detected organisms were reclassified using a clinical actionability system. We also analyzed the relationships between mNGS findings, host characteristics, and short-term outcomes. RESULTS: A total of 134 patients were included. At least one organism was detected in 87.3% of patients, but only 58.2% had highly actionable results. Bacteria were the most common findings, followed by viruses and fungi. Mixed detections were frequent. Actionable results were seen more often in respiratory specimens than in blood specimens. Viral detection was associated with immune status. Pathogen read counts were only weakly related to inflammatory markers and did not independently predict adverse outcomes. Age was the only independent risk factor for adverse outcome. CONCLUSION: mNGS had a high detection rate in hematologic patients, but not all positive findings were clinically important. Result interpretation should take specimen type and host status into account. Pathogen read counts alone were not useful for predicting short-term outcome.
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Two patients with hematologic disease, one of whom had received androgenic steroids, had liver damage associated with peliosis hepatis. In one patient with spherocytic hemolytic anemia, peliosis hepatis was an incidental postmortem finding. In the other patient, who was treated with androgenic-anabolic steroids for aplastic anemia, hepatic failure associated with peliosis hepatis developed. Splenic involvement by peliosis was present in both patients. Peliosis hepatis should be considered in the differential diagnosis of hepatic disease in patients with hematologic disorders, especially if treatment has included androgenic-anabolic steroids.
The increasing availability of genomic and transcriptomic sequencing has uncovered diverse genomic alterations and distinct gene expression profiles driving hematologic diseases, yet a data integration and sharing platform dedicated to hematology remains lacking. We developed the American Society of Hematology (ASH) HematOmics Program (ASHOP; ashop.hematology.org), a resource for exploring somatic alterations and gene fusions, transcriptomic results, and clinical data from 5960 patients spanning B-cell precursor and T-cell acute lymphoblastic leukemia, acute myeloid leukemia, myelodysplastic syndromes, and chronic lymphocytic leukemia. Users can explore genomic alteration landscapes and comutation patterns via lollipop and matrix plots and analyze significantly altered genes in user-defined subcohorts. Transcriptomes can be explored through interactive uniform manifold approximation and projections, clustering, differential expression, and pathway enrichment. Genomic, transcriptomic features, and clinical outcomes can be correlated in a user-driven manner or combined to precisely define study cohorts. We illustrate the following 4 use cases of ASHOP: (1) stratification of DUX4-rearranged B-cell leukemias into Early/Multipotent and Committed subgroups with distinct outcomes, (2) characterization of HOXA/HOXB expression patterns in acute myeloid leukemias, (3) correlating mutational burden with mismatch repair deficiency and mutational signatures, and (4) investigation of TP53 alteration landscape. ASHOP is an open-access resource to inform genomic and transcriptomic data interpretation for hematologic malignancies and will expand to support additional diseases and data modalities from the ASH community.
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Cultures of bone-marrow cells incubated for 5 h at 4 degrees had cells in metaphase with elongated chromosomes which were easily Giemsa banded. Colcemid was not necessary for metaphase arrest at this temperature. This technique made possible routine karyotyping of patients with leukemia and other hematological diseases in which the detection of aberrations was otherwise difficult.
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Blood lysozyme estimation seems to be important in hematological practice. Serum levels are roughly proportional to the size of the pool and, above all, granulocytic renewal. Thus levels are increased compared with levels of circulating polynuclear cells. In bone marrow disorders, and particularly in myelofibrosis, owing to the infective granulopoiesis and/or increased destruction of the neutrophil polymorphs. It is lowered in neutropenia with a scanty bone marrow. It provides an important contribution to diagnosis of the type of acute leukemia, the fall in the lymphoblastic forms contrast with normal or increased levels in myeloblastic forms. Finally, there is a marked increase in lysosome urea in acute monocytic or myelomonocytic leukemia.
By means of a test set of the Isocommerz (GDR) determinations of vitamin B12 in the serum were carried out according to the principle of the competitive protein binding. The normal values lie between 200 and 1,000 pg/ml serum. Clearly decreased levels of vitamin B12 are found in the pernicious anaemia, in other megaloblastic anaemias and in disturbances of the resorption after resection of the stomach. Increased values can be stated in the untreated chronic myelosis and in the blast episode. Under Busulphan-therapy a significant decrease of the values of vitamin B12 develops. The method seems to be practically important for the well-timed recognition of deficiency conditions of vitamin B12 in beginning pernicious anaemia, in disturbances of intestinal resorption after resection of the stomach and for the observation of the course of the chronic myelosis.