Publications by authors named "L Aguilar-Lopez"

Article Synopsis
  • The most common genetic issue in chronic lymphocytic leukemia (CLL) patients is a deletion at chromosome band 13q14, which can vary in size and impact prognosis, particularly if it includes the larger associated gene deletions.
  • A specific CLL case showed a chromosomal translocation (t(12;13)) along with a deletion affecting both crucial genes in the 13q14 region, indicating a level of genomic instability.
  • Genomic instability in this patient was evidenced by various cytogenetic abnormalities, including chromosomal breaks and telomere shortening, suggesting a complex interaction between the deletions and the stability of the genome.
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Intron-22 (Inv22) and intron-1 (Inv1) inversions account for approximately one half of all severe cases of hemophilia A (SHA) worldwide. Inhibitor development against exogenous factor VIII (FVIII) represents a major complication in HA. The causative F8 mutation is considered the most decisive factor conditioning inhibitor development.

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Introducction: Acute lymphoblastic leukemia (ALL) is a clonal disease characterized by a proliferation of immature cells. In immunophenotypic, cytogenetic and molecular studies, it is a heterogeneous disease with diverse manifestations and prognoses. The treatment is complex and is associated with complications during its course.

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