Publications by authors named "N Krishnamoorthy"
Comparison of Risk Stratification by CanAssist Breast Test Performed on Core Needle Biopsies Versus Surgical Specimens in Hormone Receptor-Positive, Her2-Negative Early Breast Cancer.
Cureus
September 2024
Article Synopsis
- Core needle biopsies (CNB) are increasingly used for biomarker testing in breast cancer, with the CanAssist Breast (CAB) test assessing the risk of recurrence in early-stage hormone receptor-positive, Her2-negative patients.
- A study of 103 paired samples showed a high concordance rate of 92.2% between CNB and surgical specimens, indicating that CAB performed on CNB provides reliable risk stratification.
- The accuracy of CAB in identifying low-risk patients is particularly notable at 97.5%, allowing for informed treatment decisions, such as avoiding unnecessary chemotherapy.
Respiratory syncytial virus (RSV) infects nearly all children by 2 years of age and is a leading cause of pediatric hospitalizations. A subset of children with RSV infection (RSV children) develop respiratory failure requiring intensive care, but immune mechanisms distinguishing severe pediatric RSV infection are not fully elucidated. Natural killer (NK) cells are key innate immune effectors of viral host defense.
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- The study focuses on inherited metabolic disorders (IMDs), estimating that 2-3% of live births globally are affected, with a high prevalence in consanguineous regions due to the autosomal recessive nature of many IMDs.
- Utilizing genome sequencing data from over 14,000 Qatari adults, the research analyzed genetic variants linked to 115 treatable IMDs, uncovering 253 significant genetic variations across 69 disorders.
- The findings indicate that about 8% of unrelated individuals carry pathogenic variants for at least one treatable IMD, highlighting conditions like phenylketonuria with the highest carrier rates, suggesting that such studies could enhance public health initiatives like screening programs.
Severe asthma is a syndromic label assigned to patients based on clinical parameters, yet there are diverse underlying molecular endotypes in severe asthma pathobiology. Immunophenotyping of asthma biospecimens commonly includes a mixture of granulocytes and lymphocytes. Recently, a subset of patients with severe asthma was defined as non-type 2 with neutrophil-enriched inflammation associated with increased Th17 CD4 T cells and IL-17 levels.
View Article and Find Full Text PDFBackground: Genome sequencing of large biobanks from under-represented ancestries provides a valuable resource for the interrogation of Mendelian disease burden at world population level, complementing small-scale familial studies.
Methods: Here, we interrogate 6045 whole genomes from Qatar-a Middle Eastern population with high consanguinity and understudied mutational burden-enrolled at the national Biobank and phenotyped for 58 clinically-relevant quantitative traits. We examine a curated set of 2648 Mendelian genes from 20 panels, annotating known and novel pathogenic variants and assessing their penetrance and impact on the measured traits.