Arch Iran Med
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Case Reports
A Form of Metabolic-Associated Fatty Liver Disease Associated with a Novel LIPA Variant.
The LIPA gene on chromosome 10q23.31 contains 10 exons and encodes lipase A, the lysosomal acid lipase (LAL) containing 399 amino acids. Pathogenic variants in the LIPA result in autosomal recessive Wolman disease and cholesteryl ester storage disease (CESD). Here, we report a novel missense variant (NM_001127605.3:c.928T>A, p.Trp310Arg) of LIPA in an Iranian family with fatty liver disease identified by whole-exome sequencing and confirmed by Sanger sequencing. ⋯ A homozygous missense variant (NM_001127605.3:c.928T>A, p.Trp310Arg) of the LIPA gene which caused LAL-D was found to be associated with dyslipidemia, fatty liver disease and/or cirrhosis in six members of an Iranian family. These results should be confirmed by functional studies and extending the study to at least three families.
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This study was conducted to evaluate the epidemiological features of bone and soft cancers in the Golestan province, Northern Iran from 2004 to 2016. ⋯ Epidemiological features of bone and soft tissue cancers including gender, age and place of residence should be considered by health policy makers in designing cancer control programs.
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Global real-time monitoring of SARS-CoV-2 variants is crucial to controlling the COVID-19 outbreak. The purpose of this study was to set up a Sanger-based platform for massive SARS-CoV-2 variant tracking in laboratories in low-resource settings. ⋯ Our proposed in-house Sanger-based assay for SARS-CoV-2 lineage assignment is an accessible strategy in countries with poor infrastructure facilities. It can be applied in the rapid tracking of SARS-CoV-2 VOCs in the SARS-CoV-2 pandemic.
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We aimed to determine the effects of systemic therapy with autologous adipose tissue derived mesenchymal stem cells (AD-MSCs) on different parameters of peritoneal function and inflammation in peritoneal dialysis (PD) patients. ⋯ Our results for the first time showed the potential of MSCs for treatment of peritoneal damage in a clinical trial. Our results could be regarded as hypothesis suggestion and will need confirmation in future studies.
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The burden of neurological disorders increases with population growth and aging and nearly three-quarters of the global burden of neurological disorders has been reported in low- and middle-income countries. Therefore, this study aimed to report the epidemiological features and the burden of neurological disorders in North Africa and the Middle East (NAME) countries. ⋯ Despite progressive reduction in death due to neurological disorders in the NAME region in recent decades, there was a considerable and increasing number of people affected by different neurological disorders. As populations age, societies will face more challenges regarding prevention, detection, treatment, and rehabilitation.