a Essawi, M., I. b Mazen, L. c Fawaz, H. A. Hassan, K. e Gaafar, N. a Elbagoury, and M. d Peter, "Assessment of the most common CYP21A2 point mutations in a cohort of congenital adrenal hyperplasia patients from Egypt", Journal of Pediatric Endocrinology and Metabolism, vol. 33, issue 7, pp. 893-900, 12/2020. Abstract

Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21-OHD) is a common autosomal recessive disorder caused by defects in the CYP21A2 gene. We aimed to determine the prevalence of the most commonly reported mutations among 21-OHD Egyptian patients and correlate genotype with phenotype. Molecular analysis of the CYP21A2 gene was performed for the detection of the six most common point mutations (p.P30L, p.I172N, p.V281L, p.Q318X, the splice site mutation Int2 [IVS2-13A/C>G], and the cluster of three mutations [p.I236N, p.V237E, and p.M239K] designed as CL6). Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method was performed on 47 unrelated Egyptian 21α-OH deficiency patients and their available parents to detect the presence of the six most common point mutations. Screening for the six most common point mutations in CYP21A2 gene, revealed mutations in 87.2% (82/94) of the studied alleles corresponding to 47 Egyptian patients. The most common mutation among the studied cases was IVS2-13C/A>G that was found to be presented in a frequency of 46.8% (44/94). The genotype/phenotype correlations related to null, A, and B groups were with PPV of 100, 55.5, and 83.3%, respectively. The described method diagnosed CAH in 80.8% of the studied patients. Good correlation between genotype and phenotype in salt wasting and simple virilizing forms is determined, whereas little concordance is seen in nonclassical one. Furthermore, studying the carrier frequency of 21-OHD among the normal population is of great importance. © 2020 2020 Walter de Gruyter GmbH, Berlin/Boston.

j Gaafar, K., b c Mohr, Bert J a, O. d Souilem, A. M. e Abdussamad, P. i Bugnon, J. K. a Chipangura, S. R. j Fahmy, L. Fourie, N. E. m Jillani, J. T. n Kantyok, et al., "Sustainable education and training in laboratory animal science and ethics in low- and middle-income countries in Africa – challenges, successes, and the way forward", Laboratory Animals , vol. 57, issue 2, pp. 136_148, 04/2023. Abstract

Pichia pinus was grown in a semi-continuous process on mango-peel extract medium. The yield was 8 g/litre after 12 h at the end of the logarithmic phase. The biomass of Pichia pinus contained 53·7% protein. Amino acid analyses of the protein revealed the presence of all amino acids in substantial amounts except for those containing sulphur, which were the limiting amino acids. When fed to rats the protein biomass exhibited good nutritional values (protein efficiency ratio, 2·77 ± 0·126; apparent digestibility, 71·54 ± 1·02) as compared to the casein diet (protein efficiency ratio, 2·913 ± 0·127; apparent digestibility, 90·156 ± 0·64). Alkaline phosphatase levels were insignificantly different from the control during the experimental period (21, 28, 35 and 42 feeding days). The transaminases, γ-glutamyl transferase activities and creatinine levels in the serum were significantly varied at the 35th and 42nd feeding days. The glutamate oxaloacetate transaminase, urea and uric acid levels in serum were significantly increased only after 35 feeding days. No histological changes were observed in either liver or kidney tissues.

a Sadek, S. A., S. R. a Fahmy, S. B. a Ali, M. A. a Abdelfattah, A. M. a Fahmy, K. R. b Mansour, H. b Abdullah, and Y. b Mohamed, "Developing a Chitosan/polyvinyl alcohol hydrogel for gastro-retentive release of ranitidine and enhanced anti-ulcerative properties", BMC Biotechnology, vol. 25, issue 1, pp. 101, 12/2025. Abstract

Ranitidine is widely used to treat gastrointestinal conditions, but recent studies have revealed severe potential side effects, including a link to cancer. Therefore, this study aims to develop a new gastro-retentive formulation of ranitidine by utilizing the biocompatibility and biodegradability of Chitosan, along with the strength and hydrophilicity of polyvinyl alcohol (PVA). A chitosan/PVA/ranitidine hydrogel was created using the freeze-thaw method and evaluated for stability, ranitidine release behavior, and efficacy in treating ulcers in rats compared to a commercial formulation. The hydrogel demonstrates an average particle size of 69 nm, a polydispersity index of 0.344, and a zeta potential of + 38 mV. Transmission Electron Microscopy confirmed the spherical shape of the formulation, while X-ray diffraction verified its crystalline structure. Additionally, the study observed an impressive encapsulation efficiency of 98.66% ± 1.01 and a high drug content of 49.82% ± 1.29, as confirmed by Fourier transform infrared analysis. The prepared hydrogel controls the release of ranitidine over 12 h, with an average release of 87.98% ± 4.01%. The hydrogel exhibits minimal degradation over 15 days, greater thermal stability than ranitidine, and adequate stability in acidic gastric conditions. Furthermore, the cytotoxicity assay demonstrated that the hydrogel is biocompatible and promotes cell growth. The study discovered that the hydrogel formulation enhances the effects of ranitidine, particularly its antioxidant and anti-inflammatory properties. In vivo studies illustrated the hydrogel’s promising ulcer-healing properties, suggesting potential use in treating peptic ulcers. Hence, the chitosan/PVA hydrogel can be used as a possible drug delivery system for the sustained release of ranitidine. © The Author(s) 2025.

a Mohr, B. J., S. R. c Fahmy, F. d Fakoya, K. c Gaafar, J. T. e Kantiyok, g Khammar, Farida f, S. h Mbarek, and L. i Mugisha, "Guidelines for the establishment and functioning of Animal Ethics Commitees (Institutional Animal Care and Use Committees) in Africa", Laboratory Animals, vol. 58, issue 1, pp. 82_92, 02/2024. AbstractWebsite

Abstract
Animals are used for scientific purposes across Africa to benefit humans, animals or the environment. Nonetheless, ethical and regulatory oversight remains limited in many parts of the continent. To strengthen this governance framework, the Pan-African Network for Laboratory Animal Science and Ethics brought together experts from 12 African countries to create an Africa-centric practical guide to facilitate the establishment and appropriate functioning of Institutional Animal Ethics Committees across Africa. The Guidelines are based on universal principles for the care and use of sentient animals for scientific purposes, with consideration of the cultural, religious, political and socio-economic diversity in Africa. They focus on 11 key elements, including responsibilities of institutions and of the Institutional Official; composition of the Committee; its responsibilities, functioning and authority; ethical application and review processes; oversight and monitoring of animal care and use and of training and competence; quality assurance; and the roles of other responsible parties. The intent is for African institutions to adopt and adapt the guidelines, aligning with existing national legislation and standards where relevant, thus ensuring incorporation into practice. More broadly, the Guidelines form an essential component of the growing discourse in Africa regarding moral considerations of, and appropriate standards for, the care and use of animals for scientific purposes. The increased establishment of appropriately functioning animal ethics committees and robust ethical review procedures across Africa will enhance research quality and culture, strengthen societal awareness of animals as sentient beings, improve animal well-being, bolster standards of animal care and use, and contribute to sustainable socio-economic development. © The Author(s) 2023.

HOSNEY, M. O. H. A. M. E. D., A. M. Badr, S. R. Fahmy, A. Afifi, V. Baumans, and K. M. Gaafar, "Culture of Care Enhancement in Egypt: The Impact of Laboratory Animal Science Training on Participants’ Attitudes", Alternatives to Laboratory Animals, vol. 49 , issue 1-2, pp. 49-55, 2021.
K, G., and F. SR, "Effects of Laboratory Animal Science Training on Scientists' Attitudes and Practice in Egypt", Journal of the American Association for Laboratory Animal Science, vol. 57, issue 6, pp. 1-3, 2018. jaalas_training.pdf
Essawi, M., H. Nasr, I. Mazen, K. Gaafar, K. Amr, M. Hafez, and Y. Gad, "Low Incidence of Androgen Receptor Mutation Among Egyptian Children with Androgen Resistance", Egypt J Med Hum Genet, vol. 9, issue 1, 2016. Abstractlow_incidence.pdf

Introduction: In Egypt, disorders of sex development (DSD) constitute a significant entity among the birth defect list. Previous studies have reported that end organ androgen unresponsiveness, i.e. Androgen resistance, was the most prevalent underlying mechanism among Egyptian 46,XY DSD cases. Based on cytogenetic and hormonal diagnostic criteria as well as few sporadic case reports, it was proposed that androgen receptor (AR) defects [i.e. Androgen insensitivity syndrome (AIS), OMIM#300068] might constitute a major etiology within this category. However, this has never been systematically ascertained through an AR molecular diagnostic approach. Aim of the Work: The current study aimed to assess the role of AR mutations as an underlying etiology among a sample of Egyptian 46,XY DSD pediatric patients presenting with androgen end organ unresponsiveness. Patients and Method: In the current study, 21 children [age<18years] with male undermasculinization due to androgen end organ unresponsiveness were selected from 46,XY DSD cases. The selection criteria included ambiguous genital phenotype or genitalia discordant to the genotypic sex; 46,XY Karyotype and normal testicular response to HCG stimulation in prepubertal patients or normal basal testosterone (T) levels in postpubertal subjects. Molecular studies of the AR entailed PCR amplification for screening of major deletions/ insertions, single stranded conformational polymorphism (SSCP) screening for point mutations in the AR 2-8 exons followed by sequencing of these exons for all cases. Results: The results showed that none had major deletions/insertions. Five exons out of 147 (3.4%) showed abnormal SSCP migrational patterns. Out of those 5, two mutations in two Egyptian patients were detected by sequencing. The first was R840G (Arginine 840 glycine), in exon 7 (The ligand binding domain). The other was A596T (Alanine 596 Threonine) in exon 3 (The DNA binding domain). Conclusion:, This study shows that AR mutation is an uncommon underlying etiology among Egyptian paediatric 46,XY cases.

HOSNEY, M. O. H. A. M. E. D., S. Sabet, M. O. H. A. M. E. D. EL‑SHINAWI, K. M. Gaafar, and M. M. Mohamed, "Leptin is overexpressed in the tumor microenvironment of obese patients with estrogen receptor positive breast cancer", EXPERIMENTAL AND THERAPEUTIC MEDICINE, pp. 1-12, 2017. Abstractetm.2017.4291_aop_pdf.pdf

Abstract. The present study aimed to investigate the potential role of leptin in the progression of breast cancer and the associated cell proliferation signalling pathway(s). A total of 44 female patients diagnosed with breast cancer and 24 healthy donors from Ain Shams University Hospitals (Cairo, Egypt) were enrolled in the present study. The present study assessed leptin expression in breast cancer tissues at the gene and protein level using reverse transcription‑quantitative polymerase chain reaction (RT‑qPCR) and immunohistochemistry. The results demonstrate that the expression of leptin was significantly higher in tissue of breast cancer samples from obese patients than overweight and control samples (P<0.001). ELISA results indicated a significant increase (P<0.001) of leptin expression in obese patients. To investigate whether there is any difference in leptin expression between the peripheral and tumor microenvironment blood of patients with breast cancer, the concentration of leptin was assessed in plasma from both using ELISA assays. The results demonstrated a statistically significant increase in the level of leptin in plasma samples from the tumor microenvironment of obese patients with estrogen receptor positive (ER+) breast cancer, compared with peripheral plasma samples. Furthermore, the leptin gene was overexpressed in obese ER+ breast cancer tissue. RT‑qPCR was also performed to assess the expression of genes involved in proliferation pathways including leptin receptor (LEPR), aromatase, mitogen activated protein kinase (MAPK) and signal transducer and activator of transcription‑3 (STAT3). A positive association between leptin expression, LEPR, aromatase, MAPK and STAT3 was detected in tissue samples of patients with breast cancer. The current study concluded that leptin may enhance breast cancer progression by inducing the expression of JAK/STAT3, ERK1/2 and estrogen pathways in obese patients breast cancer.

Gaafar, K., S. Salama, and S. el Batran, "Studies on the glycemic and lipidemic effect of atenolol and propranolol in normal and diabetic rats.", Arzneimittel-Forschung, vol. 44, issue 4, pp. 496-501, 1994. Abstractstudies_on_the_glycemic.pdf

The effects of the non-selective beta-blocker propranolol (CAS 525-66-6) and the cardioselective drug atenolol (CAS 29122-68-7) on serum glucose, insulin levels and some serum lipid components, were compared in normal and diabetic rats receiving glibenclamide. The two beta-blockers, when administered concurrently with glibenclamide in normal rats, exerted a significant hypoglycemic effect (p < 0.01), while in diabetic rats the two drugs caused a more significant decrease (p < 0.001 and p < 0.01, resp.). Serum insulin levels were mainly unaffected by the two beta-blockers. Propranolol was found to exhibit a hypolipidemic effect in diabetic rats when administered alone or in combination with glibenclamide. In comparison atenolol, when used alone, exerted a significant increase in triglycerides and total lipid levels (p < 0.05) in normal rats. This effect was masked when atenolol was administered concurrently with glibenclamide, but a hypercholesterolemic effect (p < 0.01) was noticed. Paradoxically in diabetic rats, atenolol caused a significant decrease (p < 0.05) in triglycerides level, while its combined use with glibenclamide showed no effect.

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