Key Points
We distinguished aneuploid cells from diploid cells within the hematopoietic stem and progenitor cells using scRNA-seq. Monosomy 7 cells showed downregulated pathways involved in immune response and maintenance of DNA stability.
Germline mutation in GATA2 can lead to GATA2 deficiency characterized by a complex multi-system disorder that can present with many manifestations including variable cytopenias, bone marrow failure, myelodysplastic syndrome/acute myeloid leukemia (MDS/AML), and severe immunodeficiency. Penetrance and expressivity within families is often variable. There is a spectrum of bone marrow disease in symptomatic cytopenic patients ranging from hypocellular marrows without overt dysplasia to those with definitive MDS, AML, or chronic myelomonocytic leukemia. Relatives of probands with the same mutations may demonstrate minimal disease manifestations and normal marrows. A comprehensive clinical, hematological and genetic assessment of 25 patients with germline GATA2 mutation was performed. MDS-associated mutations were identified in symptomatic GATA2 patients both with overt MDS and in those with hypocellular/aplastic bone marrows without definitive dysplasia. Healthy relatives of probands harboring the same germline GATA2 mutations had essentially normal marrows that were overall devoid of MDS-associated mutations. The findings suggest that abnormal clonal hematopoiesis is a common event in symptomatic germline mutated GATA2 patients with MDS and also in those with hypocellular marrows without overt morphologic evidence of dysplasia, possibly indicating a pre-MDS stage warranting close monitoring for disease progression.
In this work, a fibrous bed bioreactor with high specific surface area and good adsorption efficacy for S. cerevisiae cells was used as the immobilization matrix in the production of ethanol. In batch fermentation, an optimal ethanol concentration of 91.36 g/l and productivity of 4.57 g l(-1) h(-1) were obtained at an initial sugar concentration of 200 g/l. The ethanol productivity achieved by the immobilized cells was 41.93% higher than that obtained from free cells. Ethanol production in a 22-cycle repeated batch fermentation demonstrated the enhanced stability of the immobilized yeast cells. Under continuous fermentation in packed-bed reactors, a maximum ethanol concentration of 108.14 g/l and a productivity of 14.71 g l(-1) h(-1) were attained at 35 degrees C, and a dilution rate of 0.136 h(-1) with 250 g/l glucose.
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