This study investigated major allelic variants of and in Egyptians, an Arabic population for which there is little information regarding these important pharmacogenes. , , , , and gene copy number variation, as well as and were determined with commercially available TaqMan assays in 145 healthy study participants. The alleles identified suggest that the prevalence of poor metabolizers is low as none were found among the 145 subjects investigated. The frequency for nonexpressers was 74.5% and the allele frequency was low at 2.0%. These preliminary findings indicate that pharmacogene variation in Egyptians is different from those of other Middle Eastern/Arabic populations and warrants further investigation.
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http://dx.doi.org/10.2217/pgs-2020-0140 | DOI Listing |
Front Pediatr
January 2025
Department of Pediatrics, West China Second University Hospital, Sichuan University, Chengdu, China.
Background: Alport syndrome (AS) is a genetically heterogeneous disorder resulting from variants in genes coding for the alpha-3/4/5 chains of Collagen IV, leading to defective basement membranes in the kidney, cochlea, and eye. The clinical manifestations of AS vary in patients. Cases of childhood AS caused by presenting primarily with nephrotic syndrome (NS) are rarely reported.
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December 2024
Department of Neurology, 417 Army Share Fund Hospital, Athens, GRC.
Posterior reversible encephalopathy syndrome (PRES) is a clinical manifestation of various underlying causes, characterized by the combination of clinical and imaging findings associated with the posterior cerebral areas and relating to arterial hypertension and endothelial dysfunction. No association was made so far between PRES and McCune-Albright syndrome (MAS), a rare genetic disorder resulting in fibrous dysplasia. A 33-year-old female with MAS was presented to the emergency department of the 417 Army Share Fund Hospital in Athens (Greece) after seizure activity with two episodes of ocular upward deviation and transient facial palsy, each lasting a few minutes, followed by a postictal phase.
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December 2024
Zebrafish Research Unit, Mahatma Gandhi Medical Advanced Research Institute, Sri Balaji Vidyapeeth (Deemed-to-be-University), Pondicherry, IND.
Low- and middle-income countries (LMICs) are increasingly challenged by the rising burden of medicolegal cases. Traditional forensic infrastructure and in vivo rodent models often have significant limitations due to high costs and ethical concerns. As a result, zebrafish () are gaining popularity as an attractive alternative model for LMICs because of their cost-effectiveness and practical advantages.
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January 2025
Department of Biological Sciences, Faculty of Science, King Abdulaziz University, Jeddah, Saudi Arabia.
Introduction: Sorghum bicolor: widely cultivated in Asia and Africa, faces increasing challenges from climate change, specifically from abiotic stresses like drought and salinity. This study evaluates how different sorghum genotypes respond to separate and combined stresses of drought and salinity.
Methods: Carried out with three replications using a randomized complete block design, the experiment measured biochemical and physiological parameters, including stomatal conductance, chlorophyll content, and antioxidant enzyme activities.
Front Microbiol
January 2025
Laboratory for Plague Microbiology, Especially Dangerous Infections Department, State Research Center for Applied Microbiology and Biotechnology, Obolensk, Russia.
16S rRNA genes sequencing has been used for routine species identification and phylogenetic studies of bacteria. However, the high sequence similarity between some species and heterogeneity within copies at the intragenomic level could be a limiting factor of discriminatory ability. In this study, we aimed to compare 16S rRNA genes sequences and genome-based analysis (core SNPs and ANI) for identification of non-pathogenic .
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