The severe acute respiratory syndrome coronavirus (SARS-CoV) was first emerged 17 years ago (Drosten et al., 2003). Later in December 2019 in Wuhan, China, a novel coronavirus (SARS-CoV-2) appeared and was found that it is able to infect humans (Gorbalenya et al., 2020) and lead to a pneumonia outbreak (Jiang et al., 2020). This virus causes coronavirus disease-19 (COVID-19) with mild to severe lung injury and multi-organ failure symptoms, eventually leading to death, especially in older patients with other comorbidities. However, genetic or environmental factors increasing the susceptibility to SARS-CoV-2 remained unclear.Angiotensin-converting enzyme 2 (ACE2; OMIM accession number = 300335) was identified as the functional SARS-CoV receptor in vitro and in vivo (Imai et al., 2005;
The aim of this study was to investigate the prevalence and spectrum of beta-thalassemia (beta-thal) mutations in the population of Sunni Muslim Kurds in western Iran and to set up a prenatal diagnostic laboratory. Sixty unrelated Kurdish beta-thal patients identified in hematology clinics from different cities were studied. The mutations in 120 chromosomes were studied by polymerase chain reaction-amplification refractory mutation system and direct sequencing methods. We found fifteen beta-thal mutations, and IVS-II-1 (G>A) was the most frequent, comprising 35% of all mutations. Other common mutations were frameshift codons 8/9 (+G) 15.7%, IVS-I-1 (G>A) 8%, FSC 5 (-CT) 6.7%, FSC 8 (-AA) 6.7%, and IVS-I-110 (G>A) 6%. This is the first comprehensive study in this region and could provide a reference for prenatal testing and genetic counseling in this population.
Beta-thalassemia (beta-thal) is a hereditary autosomal disorder with decreased or absent beta-globin chain synthesis. This study was designed to identify the common and rare beta-thal mutations in the Azerbaijan provinces, Northwestern Iran, and to set up a prenatal diagnostic laboratory. One hundred unrelated patients with known beta-thal major and intermedia, registered with the thalassemia clinics in the provincial capitals of Tabriz and Ardebil, were included. Mutations were studied in 200 chromosomes, by polymerase chain reaction-amplification refractory mutation system (PCR-ARMS) and direct sequencing methods. We found 17 beta-thal mutations in this region of Iran. The results showed that IVS-II-1 (-->GA) was the most frequent mutation, comprising 21% of all mutations. Other common mutations were IVS-I-110 (-->GA) 18%, frameshift codons (FSC) 8/9 (+G) 14.5%, FSC 8 (-AA) 8% and IVS-I-1 (GA) 7.5%. This is the first comprehensive study in this region and could be useful for developing a beta-thal molecular screening in Azerbaijan-Iran.
Purpose: Breast cancer (BC) is globally the main reason of cancer-related deaths in women. Omentin-1, an anti-inflammatory and antioxidant adipokine, plays different roles in tumorigenesis and anti-oncogenic pathways. In present study, we investigated the association of omentin-1 with oxidative stress and clinical significances in healthy controls and BC patients to assess the prognostic and diagnostic value of omentin-1 in this cancer. Methods: This case-control study included 88 BC patients and 86 healthy controls. The serum levels of omentin-1 were assessed by enzyme-linked immunosorbent assays methods. Also, total antioxidant capacity (TAC), total oxidant status (TOS) and malondialdehyde (MDA) serum levels were measured by spectrophotometer. quantitative real-time polymerase chain reaction (qRT-PCR) was applied to the measurement of gene expression of omentin-1. Results: the serum levels of omentin-1 were significantly lower in the BC patients compared to the healthy controls (P<0.001). Moreover, gene expression of omentin-1was significantly downregulated in the BC tissues compared to the adjacent normal tissues (P<0.001). Gene expression of omentin-1and its serum levels were significantly higher in grade I compared with grade II and III (P=0.001, P<0.001, respectively). Additionally, the serum levels of omentin-1 in the p53-positive BC patients were significantly higher than the p53-negative BC patients (P=0.001). There was an inverse correlation between the serum levels of MDA and TOS with the serum levels of omentin-1 (r=-0.436, r=-461, respectively). Conclusion: We conclude that omentin-1 may have a good prognostic and diagnostic roles in the BC patients and decreases oxidative stress in these patients.
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