Thrombophilia genetic mutations and their relation to disease severity among patients with COVID-19.

OBJECTIVES: Patients with COVID-19 infection appear to develop virus-induced hypercoagulability resulting in numerous thrombotic events. The aim of the present study was to determine the relationship between the thrombophilia genes mutations (prothrombin G20210A, factor V Leiden, and methyltetrahydrofolate reductase (MTHFR)) and the severity of COVID-19 patients. DESIGN: Prospective cross-sectional study. METHOD: One hundred and forty patients (80 adults and 60 children) were included in the current study. They were divided into the severe COVID-19 group and the mild COVID-19 group, with each group comprising 40 adults and 30 children. The patients were assessed for FV R506Q, FV R2H1299R, MTHFR A1298C, MTHFR C677T, and prothrombin gene G20210A polymorphisms. CBC, D-dimer, renal and liver function tests, hs-CRP, ferritin, and LDH were also assessed. Thrombotic events were clinically and radiologically documented. RESULTS: Severe COVID-19 cases were significantly more frequent to have a heterozygous mutation for all the studied genes compared to mild COVID-19 cases (p<0.05 for all). Being mutant to gene FV R506Q carried the highest risk of developing a severe disease course (p<0.0001). Patients with abnormally high D-dimer levels were significantly more frequent to be heterozygous for FV R506Q, FV R2H1299R, and prothrombin gene G20210A (p = 0.006, 0.007, and 0.02, respectively). CONCLUSION: We concluded that there is an evident relationship between severe COVID-19 and inherited thrombophilia. In the current study, FV R506Q gene mutation carried the highest risk of developing a severe COVID-19 disease course.

Fatigue, depression, and sleep disorders are more prevalent in patients with metabolic-associated fatty liver diseases.

AIM: To determine the prevalence and risk factors for depression, sleep disturbances, and exhaustion in MAFLD patients. METHODS: Two hundred twenty-four consecutive patients with MAFLD attending the outpatient clinic from April to October 2023; were subjected to clinical evaluation, laboratory testing including non-invasive laboratory markers, fibroscan (measuring steatosis and fibrosis), and different quantitative and qualitative fatigue scores. A control group including 342 patients without MAFLD was taken. RESULTS: The prevalence of fatigue, depression, and sleeping disorders in the MAFLD group was 67.8%, 75%, 62.5% vs 21%, 16.4%, and 19.5% in the control group respectively ( P = <0.001, P = <0.001 and P = <0.001). MAFLD with fatigue was significantly associated with the presence and severity of steatosis and fibrosis by fibroscan ( P = <0.0001). By univariate and multivariate analysis: age, BMI, waist circumference, T2DM, hypertension, steatosis, fibrosis, and Fib-4 were considered risk factors for fatigue in the MAFLD group. The age, high social level, diabetes, hypertension, steatosis, fibrosis, and fib-4 were considered, by univariate and multivariate analysis, independent risk factors for depression in the MAFLD group. age, BMI, waist circumference, diabetes, hypertension, steatosis, fibrosis, and fib-4 were independent risk factors for sleep disorders in MAFLD. CONCLUSION: Fatigue, sleeping disorders, and depression are more prevalent in MAFLD patients than in the general population. The lower health utility scores in patients with MAFLD are associated with more advanced stages of the disease.

Expression analysis of selected genes involved in tryptophan metabolic pathways in Egyptian children with Autism Spectrum Disorder and learning disabilities.

Autism Spectrum Disorder (ASD) and learning disabilities are neurodevelopmental disabilities characterized by dramatically increasing incidence rates, yet the exact etiology for these disabilities is not identified. Impairment in tryptophan metabolism has been suggested to participate in the pathogenesis of ASD, however, further validation of its involvement is required. Additionally, its role in learning disabilities is still uninvestigated. Our objective was to evaluate some aspects of tryptophan metabolism in ASD children (N = 45) compared to children with learning disabilities (N = 44) and healthy controls (N = 40) by measuring the expression levels of the MAOA, HAAO and AADAT genes using real-time RT-qPCR. We also aimed to correlate the expression patterns of these genes with parental ages at the time of childbirth, levels of serum iron, and vitamin D3 and zinc/copper ratio, as possible risk factors for ASD. Results demonstrated a significant decrease in the expression of the selected genes within ASD children (p < 0.001) relative to children with learning disabilities and healthy controls, which significantly associated with the levels of our targeted risk factors (p < 0.05) and negatively correlated to ASD scoring (p < 0.001). In conclusion, this study suggests that the expression of the MAOA, HAAO and AADAT genes may underpin the pathophysiology of ASD.