Apolipoproteins A1 and B and their ratio in acute ischemic stroke patients with intracranial and extracranial arterial stenosis: an Egyptian study. , Fahmy, Ebtesam Mohammed, Awady Mohammed Ahmed El Sayed El, Sharaf Sahar Abd El-Atty, Selim Nora Mahmoud, Abdo Hazem El Sawy, and Mohammed Shaimaa Shaheen , The Egyptian Journal of Neurology, Psychiatry and Neurosurgery, Issue doi.org/10.1186/s41983-020-00245-5, (2020)
Urinary interleukin-6 and tumour necrosis factor-alpha as early markers for diabetic nephropathy in children and adolescents with type 1 diabetes., Hana, Mona A., Sharaf Sahar A., Ismail Mohamed M., Mira Marwa F., Taha Marwa, Mostafa Mai M., and Soliman Hend M. , Sri Lanka Journal of Child Health, Issue doi.org/10.4038/sljch.v49i3.9146, (2020)
Association of CARD10 rs6000782 and TNF rs1799724 variants with paediatric-onset autoimmune hepatitis, Motawi, Tarek K., EL-Maraghy Shohda A., Sharaf Sahar A., and Said Salma E. , Journal of advanced research, 2019 Jan, Volume 15, Issue doi.org/10.1016/j.jare.2018.10.001 , p.103-110, (2019) Abstract

Although the pathogenesis of paediatric-onset autoimmune hepatitis (pAIH) remains incompletely understood, genetic variants and environmental factors are known to be involved. Caspase recruitment domain family member 10 (CARD10) is a scaffold protein that participates in a complex pathway activating nuclear factor kappa-B (NFκB) and tumour necrosis factor alpha (TNF-α). This study aimed to investigate the association of rs6000782 (g.37928186A > C) and gene promoter rs1799724 (c.-1037C > T) variants with pAIH susceptibility in a cohort of Egyptian children. The research was also extended to assess the relationship of these variants with levels of NFκB-p65 and TNF-α. Fifty-six pAIH patients and 44 age- and sex-matched healthy controls were included. Variant genotyping was performed by polymerase chain reaction (PCR). Serum NFκB-p65 and TNF-α levels were measured using enzyme-linked immunosorbent assays (ELISAs). rs6000782 C and rs1799724 T alleles, separate or in combination, were significantly increased in pAIH patients compared to controls. Serum levels of NFκB-p65 and TNF-α were higher in pAIH differentiating both groups. Moreover, the recessive model of rs6000782 revealed a significant association with the levels of both NFκB-p65 and TNF-α. In conclusion, rs6000782 and rs1799724 variants are potential genetic risk factors for pAIH predisposition, with the former affecting NFκB-p65 and TNF-α levels. Overall, the inflammatory cascade was associated with the degree of liver cell destruction. Clinically, screening and genetic counselling are recommended for relatives of pAIH patients.

MicroRNAs and Risk Factors for Diabetic Nephropathy in Egyptian Children and Adolescents with Type 1 Diabetes, Abdelghaffar, Shereen, Shora Hassan, Atty Sahar Abd El, Mougy Fatma El, Reham El Sayed, Abdelrahman Heba, Soliman Hend, Algebaly HebatAllah, Ahmed Sakinatalfouad, Alfy Peter, et al. , Diabetes, Metabolic Syndrome and Obesity: Targets and Therapy, Issue doi.org/10.2147/DMSO.S247062 , (2020)
Genetic profiling of CAH Egyptian children: rapid guide to clinical interpretation of common mutations., Elmougy, F., Elsharkawy M., Hafez M., Atty SA, and Baz H. , Journal of Endocrinological Investigation, Issue DOI: 10.1007/s40618-020-01271-z, (2020)
Vitamin D status in idiopathic Parkinson’s disease: an Egyptian study, sahar sharaf, Fahmy Ebtesam Mohamed, Elawady Mohamed Elsayed, Heneidy Sarah, and Ismail Rania Shehata , The Egyptian Journal of Neurology, Psychiatry and Neurosurgery, Issue doi.org/10.1186/s41983-020-00175-2, (2020)
Relation of serum levels of homocysteine, vitamin B12 and folate to cognitive functions in multiple sclerosis patients., Fahmy, Ebtesam Mohamed, Elfayoumy Nervana Mohamed, Abdelalim Ahmed Mohamed, Sharaf Sahar Abdel-Aaty, Ismail Rania Shehata, and Elshebawy Haidy , The International journal of neuroscience, 2018 Sep, Volume 128, Issue 9, p.835-841, (2018) Abstract

BACKGROUND: Hyperhomocysteinemia, vitamin B12 and folate deficiency have been linked to cognitive dysfunction in multiple sclerosis (MS) patients.

OBJECTIVE: This study aimed to investigate the relation of serum homocysteine (Hcy), vitamin B12 and folate to cognitive functions in MS patients.

SUBJECTS AND METHODS: Forty-five MS patients and twenty matched healthy controls were included. Subjects were submitted to cognitive assessment using a selected psychometric battery and measurement of serum levels of homocysteine, B12 and folic acid.

RESULTS: MS patients showed significant worse performance in cognitive scales compared to controls (P  ≤ 0.05). Serum homocysteine, vitamin B12 and folate showed no significant difference between patients and controls (P  > 0.05). Serum homocysteine was negatively correlated with total score of Addenbrooke's Cognitive Examination (ACE), paced auditory serial addition test and controlled oral word association test scores. Serum vitamin B12 was positively correlated with ACE language, visuospatial and total scores and negatively correlated with trail making B score. Serum folate was significantly positively correlated with ACE language and total scores. Homocysteine was the only significant predictor for cognitive impairment in MS patients.

CONCLUSION: Serum homocysteine may play a role in cognitive dysfunction in MS patients.

Interleukin-18 promoter polymorphisms and idiopathic Parkinson disease: an Egyptian study., Fahmy, Ebtesam, Rabah Amany, sahar sharaf, Helmy Hanan, and Kamal Ahmed , Acta neurologica Belgica, 2018 Apr 26, (2018) Abstract

Etiology of sporadic Parkinson's disease (PD) is largely unknown. The contribution of genetic factors to the pathogenesis of PD is supported by the demonstration of high concordance in twins, increased risk among relatives of PD patients and existence of familial cases. This study aimed to examine the relation between interleukin 18 (IL-18) gene promoter polymorphisms and idiopathic PD, and its impact on clinical presentation and disease severity. 30 idiopathic PD patients and 15 age- and sex-matched healthy subjects were included. Disease severity was assessed using Unified Parkinson's Disease Rating Scale (UPDRS). Genetic testing for IL-18 gene promoter -607C/A single nucleotide polymorphisms (SNP) was done using real-time polymerase chain reaction (PCR) technique. A raised risk of PD development was found in patients with A/C and C/C genotypes of the site -607C/A (odds ratios = 1.83 and 1.98, respectively). The distribution of the genotypes showed no significant relation to gender or predominant clinical presentation. The age at onset of disease was significantly lower in C/C and A/A genotypes compared to A/C genotype (p = 0.001 and 0.04, respectively). Patients with A/A genotype showed significantly higher mentation score of UPDRS compared to patients with A/C and C/C genotypes (p = 0.003 and p = 0.002, respectively). Polymorphisms of IL-18 gene promoter increase the risk of developing idiopathic PD. The polymorphisms may affect phenotypic expression rather than being a direct cause of idiopathic PD.

CYP21A2 genetic profile in 14 Egyptian children with suspected congenital adrenal hyperplasia: a diagnostic challenge., Mougy, Fatma El, sahar sharaf, Hafez Mona, Khattab Ahmed, Abou-Yousef Hazem, Elsharkawy Marwa, baz Heba, Ekladious Sherif, Sherif Balsam, Musa Noha, et al. , Annals of the New York Academy of Sciences, 2018 Mar, Volume 1415, Issue 1, p.11-20, (2018) Abstract

CYP21A2 genotyping remains an important element in the diagnosis and management of congenital adrenal hyperplasia, and establishing accurate genotype-phenotype correlations has facillitated adequate genetic counseling and prenatal management for at-risk families. Despite extensive efforts to establish a clear genotype-phenotype correlation, some discordance remains. Establishing a diagnosis of congenital adrenal hyperplasia on the basis of biochemical and clinical data is occasionally challenging, and the identification of CYP21A2 mutations may help confirm the diagnosis. We review the diagnostic challenges despite an extensive genetic evaluation for 14 patients with a suspected clinical and biochemical diagnosis of congenital adrenal hyperplasia. Other diagnostic entities should be considered in the absence of convincing genetic data.

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