Publications by authors named "S A Ghafar"
Leukemia is found in approximately 2.3 million people worldwide and causes many deaths all over the world. This research study was conducted to figure out the link of single nucleotide polymorphisms of genes CEBPA (rs34529039), NPM1 (rs753788683), IDH1 (of rs11554137) and RUNX1 (rs13051066) polymorphisms as biomarker potential in leukemia patients.
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- Recent findings show biallelic loss of function variants in the ESAM gene linked to prenatal intracranial hemorrhage in 14 individuals across 9 families, including 4 patients from two families with varied clinical presentations.
- Brain imaging revealed different neurological issues such as encephalopathy, seizures, and hydrocephalus, with one patient showing unique symptoms like white matter volume loss and porencephalic cysts.
- Exome sequencing uncovered two new harmful ESAM variants and an additional MC4R variant in one patient, suggesting a connection to obesity and highlighting ESAM's role as a critical gene affecting brain health.
Prior studies have extensively investigated the essential oil derived from the Mediterranean cypress, . However, the 'Stricta' variety, known for its ornamental value, has received less attention in terms of its oil composition and potential health benefits. The objective of this research was to comprehensively analyze the chemical components and medicinal properties of the essential oil extracted from 'Stricta' (CSSLEO) grown in Egypt.
View Article and Find Full Text PDFDevelopmental and epileptic encephalopathies (DEEs) are a heterogeneous group of epilepsies characterized by early-onset, refractory seizures associated with developmental regression or impairment, with a heterogeneous genetic landscape including genes implicated in various pathways and mechanisms. We retrospectively studied the clinical and genetic data of patients with genetic DEE who presented at two tertiary centers in Egypt over a 10-year period. Exome sequencing was used for genetic testing.
View Article and Find Full Text PDFMethotrexate (MTX) therapy encounters significant limitations due to the significant concern of drug-induced liver injury (DILI), which poses a significant challenge to its usage. To mitigate the deleterious effects of MTX on hepatic function, researchers have explored plant sources to discover potential hepatoprotective agents. This study investigated the hepatoprotective effects of the ethanolic extract derived from the aerial parts of (CLAE) against DILI, specifically focusing on MTX-induced hepatotoxicity.
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