Publications by authors named "Reham M El-farahaty"

Article Synopsis
  • Children with Down syndrome (DS) have a higher prevalence of overweight and obesity compared to their typically developing peers, and this study focuses on a specific gene polymorphism (FTO rs17817449) that may be linked to this issue.
  • The research included 100 DS children categorized by their BMI, revealing that those who were overweight or obese had a significantly higher frequency of the FTO rs17817449 T allele and certain genotypes compared to non-obese DS children.
  • The findings suggest a clear association between the FTO rs17817449 genetic variant and obesity in DS, identifying specific genotypes and triglyceride levels as independent risk factors for overweight/obesity in this population.
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Background: Many studies have focused on the significance of lipid regulatory genes in the pathophysiology of Coronary artery disease (CAD). ApoB XbaI (rs693) and EcoRI (rs1042031) single nucleoid polymorphisms (SNPs) were investigated to detect whether they are risk factors for CAD. Till now, this association remains uncertain.

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Unlabelled: Children with Down syndrome (DS) exhibit higher overweight/obesity rates than their typically developing peers. Apelin-12 is a bioactive adipokine that exerts vital roles in obesity-related cardiometabolic comorbidities. To date, apelin-12 has not been investigated in obese-DS.

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Objectives: This study aimed to analyze the association of the peroxisome proliferator activated receptor gamma (PPARγ) P12A (rs1801282) polymorphism with development of cerebral stroke in patients with type 2 diabetes mellitus.

Methods: We included 224 patients with diabetes, they were categorized into116 patients with ischemic stroke (IS) and 108 without IS, in addition to 148 healthy controls in this study. respectively.

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Article Synopsis
  • The study examined juvenile systemic lupus erythematosus (jSLE) to understand how common different clinical features are and to find out what predicts the presence of AQP4 antibodies.
  • About 62.2% of the 90 patients tested positive for AQP4-Abs, which was linked to higher disease severity, neurological issues, and other medical problems.
  • The researchers suggest that jSLE patients with intense symptoms or neurological complications may produce AQP4 antibodies, highlighting the need for further studies to investigate this connection.
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Unlabelled: Background & Aim of the Work: β-Thalassemia (βT) is highly prevalent in some countries like Egypt. Accurate data about actual disease prevalence and heavily prevalent geographic locations are essential to help in early detection and in setting up effective preventive programs. We aim for screening βT carriers among Egyptian high school students in the Delta region.

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Article Synopsis
  • * Results show that 35.84% of relatives are carriers of β thalassemia, with the highest rate found in Al-Sharkia Governorate (51.32%), and 17.19% suffer from iron deficiency anemia, notably more common in Al-Gharbia Governorate (45.05%).
  • * The findings highlight the significant prevalence of β thalassemia carriers and iron deficiency anemia in the region, stressing the need for awareness and screening among close relatives of affected patients. *
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This work aimed to evaluate the metabolic and atherogenic effects of long-term antiepileptic drugs in a group of Egyptian epileptic patients. Sixty-nine epileptic patients on antiepileptic drug monotherapy for at least 2 years and 34 control subjects were recruited in this study. Patients were divided into 5 subgroups according to antiepileptic drugs used (valproate, carbamazepine, lamotrigine, topiramate, and levetiracetam).

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Background: About 10-20 % of children with idiopathic nephrotic syndrome (NS) are steroid-resistant (SR). Low expression of glucocorticoid receptors (GRs) has been associated with poor response to steroids in a variety of autoimmune diseases. This study was done to assess the expression of cytoplasmic GRs for CD3 and CD14 in children with NS.

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Background: Obesity is a major worldwide health problem. It is commonly observed in Down syndrome individuals than in the general population. The reason for increased risk of obesity in DS is unclear.

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