Publications by authors named "N M Al-Ali"
Article Synopsis
- The WHO and International Consensus Classification 2022 aim to improve diagnosis and treatment decisions for myelodysplastic syndromes, but disparities in their implementation exist.
- A panel of experts used a data-driven method and the Delphi consensus process to align the two classifications, focusing on genomic features to create harmonized labels for distinct clusters.
- Key findings identified nine genomic clusters, with the most significant linked to biallelic TP53 inactivation, and highlighted the inadequacy of traditional morphological assessments in capturing the complexity of these diseases.
Article Synopsis
- Lenalidomide (LEN) can help 60-70% of patients with del(5q) myelodysplastic neoplasm achieve independence from red blood cell transfusions (RBC-TI), but there's a concern about its toxicity and cost.
- The HARMONY Alliance study followed 118 low-intermediate risk MDS patients who discontinued LEN, finding that 50 lost RBC-TI after a median of 49 months.
- Factors like having a low transfusion burden before treatment, completing at least 12 LEN cycles, being younger, and having higher hemoglobin levels at withdrawal were linked to longer RBC-TI duration after discontinuing LEN.
Article Synopsis
- Mutations in the TP53 gene, especially multihit alterations, are linked to worse clinical outcomes in patients with myelodysplastic syndrome (MDS).
- This study analyzed TP53 abnormalities in 682 patients with MDS who had an isolated deletion of chromosome 5 (MDS-del(5q)), revealing that 24% had multihit mutations, indicating a greater risk for leukemic transformation.
- The study found that the effect of monoallelic mutations varies with the variant allele frequency (VAF); lower VAF (<20%) behaved like wild-type TP53, while higher VAF (≥20%) showed outcomes similar to multihit mutations, highlighting the need for careful consideration of TP53 status in
Article Synopsis
- Clonal cytopenia of undetermined significance (CCUS) is characterized by specific somatic mutations in patients with unexplained cytopenias but without a myeloid neoplasm, showing a risk of progressing to myeloid neoplasms, especially with high-risk mutations.
- A study of 357 CCUS patients identified three adverse factors that contributed to a clonal cytopenia risk score (CCRS), which categorizes patients into low, intermediate, and high-risk groups based on the likelihood of developing a myeloid neoplasm over two years.
- The CCRS demonstrated predictive validity in both the initial analysis and an independent cohort, emphasizing its utility in clinical decision-making and future research design related to CCUS management.
Background: Our aim was to describe the clinical outcomes of surgical interventions performed for the management of colonoscopy-related perforations and to compare these outcomes with those of matched colorectal surgeries performed in elective and emergency settings.
Methods: We included patients with endoscopic colonic perforation who underwent surgical intervention from the 2014-2017 National Surgery Quality Improvement Program participant use data colorectal targeted procedure file. The primary outcome in this study was short term surgical morbidity and mortality.