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  1. Tan TL, Illa NE, Ting SY, Hwong PL, Makhtar NK, Sim YH, et al.
    Med J Malaysia, 2023 May;78(3):379-388.
    PMID: 37271849
    INTRODUCTION: The magnitude of Coronavirus Disease 2019 (COVID-19) infection among the elderly population is expected to rise. Our study compares the clinical and computed tomographical (CT) features of pulmonary thromboembolic (PTE) disease associated with COVID-19 infection in geriatric and non-geriatric cases, and explores the 60-day mortality rate in these two groups.

    MATERIALS AND METHODS: We conducted this retrospective cross-sectional study in Hospital Tengku Ampuan Rahimah, Selangor, Malaysia. Patients admitted in April 2021 and May 2021 with concomitant COVID-19 infection and PTE disease were included. Demographic, clinical and laboratory data were retrieved, whilst CTPA images were analysed by a senior radiologist.

    RESULTS: A total of 150 patients were recruited, comprising 45 geriatric patients and 105 non-geriatric patients. The prevalence rate of hypertension, diabetes mellitus and dyslipidaemia were higher among the geriatric cohort. Evidently, the percentage of patients with fever and diarrhoea were significantly higher among the non-geriatric cohort. The geriatric cohort also recorded a significantly lower absolute lymphocyte count at presentation and albumin level during admission. Despite earlier presentation, the geriatric cohort suffered from more severe diseases. Analysis of the CT features demonstrated that the most proximal pulmonary thrombosis specifically limited to the segmental and subsegmental pulmonary arteries in both cohorts. The elderly suffered from a significantly higher inhospital mortality rate and their cumulative probability of survival was significantly lower.

    CONCLUSION: Typical COVID-19 symptoms may be absent among the elderly, prompting a lower threshold of suspicion during the COVID-19 pandemic. Additionally, the elderly demonstrated a higher probability of adverse outcomes despite earlier presentation and treatment.

  2. Ho PJ, Khng AJ, Loh HW, Ho WK, Yip CH, Mohd-Taib NA, et al.
    Genome Med, 2021 Dec 02;13(1):185.
    PMID: 34857041 DOI: 10.1186/s13073-021-00978-9
    BACKGROUND: Mutations in certain genes are known to increase breast cancer risk. We study the relevance of rare protein-truncating variants (PTVs) that may result in loss-of-function in breast cancer susceptibility genes on tumor characteristics and survival in 8852 breast cancer patients of Asian descent.

    METHODS: Gene panel sequencing was performed for 34 known or suspected breast cancer predisposition genes, of which nine genes (ATM, BRCA1, BRCA2, CHEK2, PALB2, BARD1, RAD51C, RAD51D, and TP53) were associated with breast cancer risk. Associations between PTV carriership in one or more genes and tumor characteristics were examined using multinomial logistic regression. Ten-year overall survival was estimated using Cox regression models in 6477 breast cancer patients after excluding older patients (≥75years) and stage 0 and IV disease.

    RESULTS: PTV9genes carriership (n = 690) was significantly associated (p < 0.001) with more aggressive tumor characteristics including high grade (poorly vs well-differentiated, odds ratio [95% confidence interval] 3.48 [2.35-5.17], moderately vs well-differentiated 2.33 [1.56-3.49]), as well as luminal B [HER-] and triple-negative subtypes (vs luminal A 2.15 [1.58-2.92] and 2.85 [2.17-3.73], respectively), adjusted for age at diagnosis, study, and ethnicity. Associations with grade and luminal B [HER2-] subtype remained significant after excluding BRCA1/2 carriers. PTV25genes carriership (n = 289, excluding carriers of the nine genes associated with breast cancer) was not associated with tumor characteristics. However, PTV25genes carriership, but not PTV9genes carriership, was suggested to be associated with worse 10-year overall survival (hazard ratio [CI] 1.63 [1.16-2.28]).

    CONCLUSIONS: PTV9genes carriership is associated with more aggressive tumors. Variants in other genes might be associated with the survival of breast cancer patients. The finding that PTV carriership is not just associated with higher breast cancer risk, but also more severe and fatal forms of the disease, suggests that genetic testing has the potential to provide additional health information and help healthy individuals make screening decisions.

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