Panminerva medica
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Familial hypercholesterolemia (FH) is a globally underdiagnosed inherited metabolic disorder. Owing to limited published data from Arab world, this study was conducted with the aim of identifying the genetic and molecular basis of FH in highly consanguineous Saudi population. ⋯ This study highlights the effectiveness of the WES, sanger sequencing, and computational analysis in expanding FH variant spectrum in culturally distinct populations like Saudi Arabia. Genetic testing of FH patients is very essential in better clinical diagnosis, screening, treatment, and management and prevention of cardiovascular disease burden in the society.
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To assess the clinical effectiveness of Tocilizumab (TCZ) in moderate-to-severe hospitalized COVID-19 patients and factors associated with clinical response. ⋯ Our real-life study suggests clinical efficacy of TCZ in moderate-to-severe COVID-19 patients but not in end-stage disease. Thus, to enhance TCZ effectiveness, patients should be selected before grave compromise of clinical conditions.
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Cardiac amyloidosis (CA) often mimics heart failure with preserved ejection fraction (HFpEF). Due to very different treatment strategies, an exact diagnosis and differentiation between pure HFpEF and CA-related heart failure (HF) is important. In the present study, we assessed the recently published H
2 FPEF score in patients with pure HFpEF, transthyretin (ATTR), as well as light chain (AL) amyloidosis-related HFpEF and tested whether it differentiates between these entities. ⋯ The H2 FPEF score should be used with caution, as there is a significant overlap between HFpEF and CA-related HF. -
The COVID-19 pandemic has had an unprecedent impact of everyday life with deleterious consequences on global health, economics, and society. Thus, accurate and timely information is critical for monitoring its spread and mitigating its impact. ChatGPT is a large language model chatbot with artificial intelligence, developed by OpenAI, that can provide both textual content and R code for predictive models. It may prove to be useful in analyzing and interpreting COVID-19-related data. ⋯ This paper demonstrates the potential of ChatGPT as a valuable tool in the monitoring of the pandemic. By processing large amounts of data and providing relevant information, ChatGPT has the potential to provide accurate and timely insights, and support decision-making processes to mitigate the spread and impact of pandemics. The paper highlights the importance of exploring the capabilities of artificial intelligence in the management of public emergencies and provides a starting point for future research in this area.