SF3B1 mutations are recurrent in chronic lymphocytic leukemia (CLL), particularly enriched in clinically aggressive stereotyped subset #2. To investigate their impact, we conducted RNA-sequencing of 18 SF3B1 and 17 SF3B1 subset #2 cases and identified 80 significant alternative splicing events (ASEs). Notable ASEs concerned exon inclusion in the non-canonical BAF (ncBAF) chromatin remodeling complex subunit, BRD9, and splice variants in eight additional ncBAF complex interactors.
View Article and Find Full Text PDFChronic lymphocytic leukemia (CLL) is a clinically and biologically heterogeneous disease with varying outcomes. In the last decade, the application of next-generation sequencing technologies has allowed extensive mapping of disease-specific genomic, epigenomic, immunogenetic, and transcriptomic signatures linked to CLL pathogenesis. These technologies have improved our understanding of the impact of tumor heterogeneity and evolution on disease outcome, although they have mostly been performed on bulk preparations of nucleic acids.
View Article and Find Full Text PDFBackground: Minimally invasive procedures have played an emerging role in pain management during recent years.
Objectives: Evaluation of the different types of periradicular infiltration as fundamental procedures in the progressive stepwise concept of pain management. Comparison of the different therapeutic substances.
Introduction: Oxygen-ozone nucleolysis (ONL) is a new, minimally invasive procedure for the treatment of discogenic low back pain with or without radicular symptoms. The aim of the present study was to determine associations between the morphology of the basic disease, patient-specific factors and the outcome of the treatment.
Materials And Methods: Six hundred and twelve patients not responding to conservative therapy were divided into five groups (disc bulging, disc herniation, postoperative patients, osteochondrosis, others) and subjected to nucleolysis with ozone and to periradicular infiltration with steroids and local anaesthesia.
Objectives: The clinical relevance of abnormal vessel findings in the posterior circulation is still a matter of controversy.
Patients And Methods: We compared 48 patients displaying sonographic abnormalities of one vertebral artery, i.e.