Low Incidence of Androgen Receptor Mutation Among Egyptian Children with Androgen Resistance

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 [ag

RADIATION RISKS EVALUATION FROM PHOSPHATE ROCKS, SIBAIYA REGION, CENTRAL EASTERN DESERT, EGYPT

Radioactivity in the environment is caused by natural radiation (terrestrial and cosmic) and anthropogenic activities. The present work used the integrated carbone γ-ray Spectrome-ter data to the prospect of radioactive zones at Sibaiya area, Central Eastern Desert, Egypt

Identification of Recurrent Mutations in the microRNA-Binding Sites of B-Cell Lymphoma-Associated Genes in Follicular Lymphoma

Follicular lymphoma (FL) is a common indolent B-cell lymphoma that can transform into the more aggressive transformed FL (tFL). However, the molecular process driving this transformation is uncertain. In this work, we aimed to identify microRNA (miRNA)-binding sites recurrently mutated in follicular lymphoma patients, as well as in transformed FL patients. Using whole-genome sequencing data from FL tumors, we discovered 544 mutations located in bioinformatically predicted microRNA-binding sites. We then studied these specific regions using targeted sequencing in a cohort of 55 FL patients, found 16 recurrent mutations, and identified a further 69 variants. After filtering for QC, we identified 21 genes with mutated miRNA-binding sites that were also enriched for B-cell-associated genes by Gene Ontology. Over 40% of mutations identified in these genes were present exclusively in tFL patients. We validated the predicted miRNA-binding sites of five of the genes by luciferase assay and demonstrated that the identified mutations in BCL2 and EZH2 genes impaired the binding efficiency of miR-5008 and miR-144 and regulated the endogenous levels of messenger RNA (mRNA)

Identification of Recurrent Mutations in the microRNA-Binding Sites of B-Cell Lymphoma-Associated Genes in Follicular Lymphoma

Follicular lymphoma (FL) is a common indolent B-cell lymphoma that can transform into the more aggressive transformed FL (tFL). However, the molecular process driving this transformation is uncertain. In this work, we aimed to identify microRNA (miRNA)-binding sites recurrently mutated in follicular lymphoma patients, as well as in transformed FL patients. Using whole-genome sequencing data from FL tumors, we discovered 544 mutations located in bioinformatically predicted microRNA-binding sites. We then studied these specific regions using targeted sequencing in a cohort of 55 FL patients, found 16 recurrent mutations, and identified a further 69 variants. After filtering for QC, we identified 21 genes with mutated miRNA-binding sites that were also enriched for B-cell-associated genes by Gene Ontology. Over 40% of mutations identified in these genes were present exclusively in tFL patients. We validated the predicted miRNA-binding sites of five of the genes by luciferase assay and demonstrated that the identified mutations in BCL2 and EZH2 genes impaired the binding efficiency of miR-5008 and miR-144 and regulated the endogenous levels of messenger RNA (mRNA)

Rapid Screening of \u3b2-Globin Gene Mutations by Real-Time PCR in Egyptian Thalassemic Children

Thalassemia is one of the most common genetic disorders in Egypt. With the total population of 70 million, there are approximately 600,000 affected individuals and more than 20 million thalassemia carriers. Thalassemia is therefore one of the major health problems in Egypt. B-Thalassemias are priority genetic diseases for prevention programs. Rapid genotype characterization is fundamental in the diagnostic laboratory, especially when offering prenatal diagnosis for carrier couples. Introduction of the real time PCR has made a revolution in the time taken for the PCR reactions. We present a method for the diagnosis of the common mutations of the B-thalassemia in Egyptian children & families. The procedure depends on the real-time PCR using specific fluorescently labeled hybridization probes. The melting temperature for each of the specific probes obtained after the PCR reaction permits the identification of the specific mutation. Genotyping of 20 thalassemic children attending the hematology clinic of the children specialized hospital and 10 controls was done using Real-time PCR and the conventional Amplification Refractory Mutation System (ARMS) technique. Analysis revealed identical results to most of the patients and they were further checked by the sequencing results of the DNA samples. The established method is a robust, fast and straight forward assay that allows the detection of the common B-thalassemia mutations in Egypt. The described LightCycler system protocol can rapidly screen for many B-globin gene mutations

Effect of replacement of berseem (Trifolium alexandrinum L.) hay by berseem silage on performance of growing rabbits

SUMMARY Two experiments were done to study the effect of partial replacement of berseem hay by berseem silage on the performance of growing rabbits. In the first one, 8 mature eight-months-old male NZW rabbits with an average body weight of 2.5 kg were used to determine digestibility coefficients and nutritive values of berseem hay (BH) and berseem silage (BS). In the second one, 30 NZW growing rabbits of 60 days of age were used in a complete randomized design experiment with three treatments. The first group was fed commercial rabbit diet including 40% BH (control diet), while in the other two groups 50 or 100% of BH was replaced by BS throughout the 70 days of the experiment. Results of the first experiment indicated that the contents of crude protein (CP) and ash tended to be higher, but the contents of organic matter (OM), crude fiber (CF), ether extract (EE) and nitrogen free extract (NFE) tended to be lower in BS compared with BH. The digestibility coefficients of DM, OM, CP, CF and NFE and the contents of TDN, DCP and DE were significantly higher (P<0.05) for BS than BH. In the second experiment, the contents of CP and ash tended to increase, but the contents of OM, CF and NFE tended to be decreased with increasing the level of replacing BH by BS. The digestibilities of DM, OM CP, EE and NFE and TDN, DCP and DE values and caecal values (TVFA's and NH 3 -N concentrations) increased significantly (P<0.05), however pH value decreased significantly (P<0.05) with increasing the level of replacing BH by BS. The final body weight, total and daily weight gain, the total and net revenue and net revenue improvement increased significantly (P<0.05), however, the average daily and total DM intake, the amount of DM required per kg weight gain and also the feed cost and feed cost/kg gain decreased significantly (P<0.05) with increasing the level of replacing BH by BS. The slaughter weight, carcass weight, dressing percentage, meat weight and percentage increased significantly (P<0.05), but the DM content of the meat decreased significantly † Corresponding author email: [email protected] H.M.A. Gaafar et al. 60 (P<0.05) with increasing the level of replacing BH by BS. Protein content in meat of rabbits fed 50 and 100% BS diets was significantly higher (P<0.05) than that of those fed commercial diet, while the contents of ether extract and ash were nearly similar for different groups

Assessment of Radioactive Materials in Albite Granites from Abu Rusheid and Um Naggat, Central Eastern Desert, Egypt

The present study aims to assess Abu Rusheid and Um Naggat albite granite’s natural radioactivity in the Central Eastern Desert, Egypt, using an HPGe laboratory spectrometer. A total of 17 albite granite samples were detected for this study. The activity concentrations were estimated for238U (range from 204 to 1127 Bq/kg),226Ra (range from 215 to 1300 Bq/kg),232Th (from 130 to 1424 Bq/kg) and40K (from 1108 to 2167 Bq/kg) for Abu Rusheid area. Furthermore238U (range from 80 to 800 Bq/kg),226Ra (range from 118 to 1017 Bq/kg),232Th (from 58 to 674 Bq/kg) and40K (from 567 to 2329 Bq/kg) for the Um Naggat area. The absorbed dose rates in the outdoor air were measured with average values of 740 nGy/h for Abu Rusheid albite granite and 429 nGy/h for Um Naggat albite granite. The activity concentration and gamma-ray exposure dose rates of the radioactive elements238U,226Ra,232Th and40K at Abu Rusheid and Um Naggat exceeded the worldwide average values that recommend the necessity of radiation protection regulation. Moreover, the corresponding outdoor annual effective dose (AEDout ) was calculated to be 0.9 and 0.5 mSv y−1 for Abu Rusheid and Um Naggat albite granite, respectively, which are lower than the permissible level (1 mSv y−1 ). By contrast, the indoor annual effective dose (AEDin) exceeded the recommended limit (3.6 and 2.1 for Abu Rusheid and Um Naggat, respectively). Therefore, the two areas are slightly saving for development projects concerning the use of the studied rocks. The statistical analysis displays that the effects of the radiological hazard are associated with the uranium and thorium activity concentrations in Abu Rusheid and Um Naggat albite granites. © 2022 by the authors. Licensee MDPI, Basel, Switzerland.Princess Nourah Bint Abdulrahman University, PNU: PNURSP2022R12Funding: The authors express their gratitude to Princess Nourah bint Abdulrahman University Researchers Supporting Project (Grant No. PNURSP2022R12), Princess Nourah bint Abdulrahman University, Riyadh, Saudi Arabia