Saudi journal of biological sciences
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RTTN (Rotatin) (OMIM 614833) is a large centrosomal protein coding gene. RTTN mutations are responsible for syndromic forms of malformation of brain development, leading to polymicrogyria, microcephaly, primordial dwarfism, seizure along with many other malformations. In this study we have identified a compound heterozygous mutation in RTTN gene having NM_173630 c.5225A > G p. ⋯ Moreover, the mutation was ruled out in 100 healthy control from normal population. To the best of our knowledge the novel compound heterozygous mutation observed in this study is the first report from Saudi Arabia. The identified compound heterozygous mutation will further explain the role of RTTN gene in development of microcephaly and neurodevelopmental disorders.
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The objective of this study was to compare the association between mental well-being between obese (classes 1 and 2), over-weight and non-obese population-based individuals. ⋯ The study highlights the public health implications of psychological distress amongst individuals with overweight and obesity in Saudi Arabia. Future longitudinal studies should explore the temporality of this relationship.
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Pediatric dental emergency management were temporarily suspended during the COVID-19 pandemic, which worsened urgent dental needs. This retrospective study investigated the management of pediatric emergencies during COVID-19 lockdown and the trends in parental preferences from March to July in 2019 and 2020. Pediatric dental emergencies managed during pandemic was collated, procedures were categorized (emergency, restorative, preventive, elective) and trends in parental treatment preference was compared from March-July 2019/2020. ⋯ None of the residents who performed aerosol procedures got infected with COVID-19 during the lockdown. Emergency dental needs among pediatric patients were very high during the COVID-19 pandemic in South India, and there was not much change in the trend in parental treatment preference in 2019 and 2020. Further, aerosol procedures did not increase the risk of COVID-19 during the pandemic provided proper universal precautions were followed.
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Review
Coagulopathies in novel coronavirus (SARS-CoV-2) pandemic: Emerging evidence for hematologists.
The coronavirus disease (COVID-19), which is also known as acute respiratory syndrome coronavirus-2 (SARS-CoV2) is a transmissible disease, has phenotypes varying from asymptomatic to Acute Respiratory Distress Syndrome (ARDS) or multiple organ dysfunction syndrome (MODS) and ultimately death in certain cases. Coagulation disorders are being frequently reported amongst these patients and the pathogenesis is still not completely understood. ⋯ The COVID-19 patients are showing varied coagulopathies and are at high risk for venous thromboembolism (VTE) which demands an early intervention. This paper reviews the evolving data regarding the evaluation and managing of coagulopathies in patients with COVID-19.
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Corona viruses (CoV) are known to cause extreme pandemics in the globe. The year 2020 will be a pandemic with the spread of the novel coronavirus (SARS-CoV-2) across the globe. Coronavirus 2019 (COVID-19) has been a part of our scary life for more than a quarter of a year in 2020. ⋯ The technique RT-PCR was generally agreed in the present scenario to detect SARS-CoV-2 in the human body. This review discusses about the importance of molecular technique for diagnosing the pandemic disease of 2019. In conclusion, RT-PCR was found to be an apt technique for identification of SARS-CoV-2.