Publications by authors named "Jose Vicente Cervera"
Acute myeloid leukemia is a complex heterogeneous disease characterized by the clonal expansion of undifferentiated myeloid precursors. Due to the difficulty in the transfection of blood cells, several hematological models have recently been developed with CRISPR/Cas9, using viral vectors. In this study, we developed an alternative strategy in order to generate CRISPR constructs by fusion PCR, which any lab equipped with basic equipment can implement.
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- Chédiak-Higashi syndrome (CHS) is a rare genetic immune disorder typically caused by various mutations, but this study reports a unique case involving a homozygous mutation from maternal uniparental isodisomy.
- The researchers used Sanger sequencing and SNP-arrays to identify the mutation and explore how it was inherited, uncovering a mutation that leads to a premature stop codon in the LYST protein, linked to severe disease symptoms.
- This case emphasizes the importance of combining different diagnostic methods for rare disorders like CHS and suggests that uniparental disomy is a relevant mechanism for its expression, even in families without a history of consanguinity.
Time and Cost of Hospitalisation for Salvage Therapy in Adults with Philadelphia Chromosome-Negative B Cell Precursor Relapsed or Refractory Acute Lymphoblastic Leukaemia in Spain.
Pharmacoecon Open
June 2019
Background: Philadelphia chromosome-negative (Ph-) relapsed or refractory (R/R) B-cell precursor acute lymphoblastic leukaemia (ALL) is rare, and information on its impact on healthcare systems is scarce.
Objective: To quantify the time and reimbursement associated with hospitalisations of patients with R/R ALL in a Spanish hospital.
Methods: Retrospective review of medical charts identified patients aged ≥ 18 years with Ph- R/R ALL hospitalised between 1998 and 2014.
Background: The antitumoral effects of different Toll-like receptor (TLRs) agonists is mediated by activating immune responses to suppress tumors growth, although TLR ligands may also have a direct effect on tumoral cells. Given that TLR signaling induces hematopoietic cell differentiations this may serve as a novel differentiation therapeutic approach for AML.
Methods: We investigated the effects of agonists for the ten human TLRs on the proliferation, apoptosis, cell cycle and differentiation of ten different types of myeloid leukemia cell lines (HL-60, U-937, KG-1, KG-1a, K-562, Kasumi-1, EOL-1, NB4, MOLM-13 and HEL).