Nephropathic cystinosis is rare genetic disease characterized by defective lysosomal cystine transport and increased lysosomal cystine. Corneal Cystine Crystal Scoring (CCCS) for diagnosis of nephropathic cystinosis was studied in all suspected children with renal Fanconi syndrome and siblings of diagnosed cases over a two year period. In addition to oral cysteamine, cysteamine eye drops were provided to all diagnosed patients and CCCS was followed up on a quarterly basis. Of 33 screened cases, 14 had corneal cystine crystals. Crystals were absent in two cystinotic patients under the age of 20 months. The mean age at diagnosis was 52.7 months and five patients had ERSD. After six months of treatment, the mean CCCS did not increase from the initial value of 1.81; associated with a decrease of 0.5 in two cases and a similar increase in two others. Scores decreased in two other patients after 12 months. Compliance was generally inadequate due to the high frequency of administration and the need for multi-drug regimen. CCCS is a simple and reasonably sensitive method for diagnosis of nephropathic cystinosis above two years of age. Topical treatment with cysteamine eye drops prevents progression of deposits and may decrease it with adequate compliance. Further follow up is still recommended to monitor long term effects of both systemic and topical cysteamine therapy.

Background: Nephropathic cystinosis is a rare autosomal recessive disorder caused by mutations in the CTNS gene, encoding for cystinosin, a carrier protein transporting cystine out of lysosomes. Its deficiency leads to cystine accumulation and cell damage in multiple organs, especially in the kidney. In this study, we aimed to provide the first report describing the mutational spectrum of Egyptian patients with nephropathic cystinosis and their genotype-phenotype correlation. Methods: Fifteen Egyptian patients from 13 unrelated families with infantile nephropathic cystinosis were evaluated clinically, biochemically, and genetically. Screening for the common 57-kb deletion was performed by standard multiplex PCR, followed by direct sequencing of the ten coding exons, exon-intron interfaces, and promoter region. Results: None of the 15 Egyptian patients had the 57-kb deletion. Twenty-seven mutant alleles and 12 pathogenic mutations were detected including six novel mutations: two frameshift (c.260_261delTT; p.F87SfsX36, c.1032delCinsTG; p.F345CfsX19), one nonsense (c.734G>A; p.W245fsX), two missense (c.1084G>A; pG362R, c.560A>G; p.K187R), and one intronic splicing mutation (IVS3+5g>t). A novel promoter region mutation (1-593-41C>T) seemed to be detected but was excluded as a pathogenic mutation by quantitative real-time PCR analysis. Conclusions: This study could be the basis for future genetic counseling and prenatal diagnosis of patients with nephropathic cystinosis in Egyptian and surrounding populations. The screening for the 57-kb deletion is not recommended anymore outside its geographical distribution, especially in the region of the Middle East. A common Middle Eastern mutation (c.681G>A; E227E) was pointed out and discussed.

The Cretaceous Nubia sandstone aquifer is the main aquifer in East El-Oweinat area along the Egyptian–Sudanese borders and in NE Africa. East El-Oweinat project has been recently considered one of the main agricultural projects in the southwest of the Egyptian Western Desert. So, the hydrogeological assessment for the Nubia aquifer in East El-Oweinat area has been done through studying and characterising the hydraulic parameters and step-drawdown test. The well and aquifer losses coefficients (C and B, respectively), the specific capacity, and the well efficiency as well as the aquifer and aquitard thickness have been estimated and traced through a total of 46 wells that have been distributed through the study area in two sectors, southern and northern. For the purpose of further exploration, the effective porosity (∅), hydraulic conductivity (K), and transmissivity (T) have been estimated for the wells in the northern sector. In addition, an aquifer assessment quality index has been introduced to assess and to rank the studied aquifer. Therefore, it is concluded that the hydraulic and the step-draw down parameters as well as the aquifer and aquitard thicknesses are prospective for further exploration to the north and the east of the northern sector in the study area. The well efficiency is mostly affected by the studied parameters, particularly the well loss coefficient, the hydraulic parameters and the well design as well. GIS approach and ArcGIS software have been applied to delineate the spatial distribution of the well performance characteristics, in order to compare between the studied groundwater wells and to integrate the different-acquired data. A set of isocontour maps have been introduced to match the lateral variation of the studied parameters and the aquifer potential to refer to the best direction for further underground water exploration.

Introduction: This study analyzes the changing levels of circulating inflammatory cytokines Interferon gamma (IFN-γ) and interleukin (IL)-10 (as the main cytokines of T-helper-1 and T-helper-2 immune responses) in patients with chronic hepatitis C virus (HCV) infection undergoing therapy with direct-acting antivirals (DAAs) and to correlate them with laboratory markers.

Methods: This Pilot study included 50 HCV monoinfected patients who received DAAs for 12 or 24 weeks. They were followed up monthly during therapy and 3 months after the end of the treatment. Liver disease was determined by transient elastography, in addition to FIB-4 indices. Analysis of IFN-gamma and IL-10 was carried out using an enzyme-linked immunosorbent assay.

Results: All patients carried HCV genotype 4. The Sustained virological response was 100% and 92% in cirrhotics and noncirrhotics, respectively. There was no significant difference between groups in baseline IL-10 or IFN-gamma. In noncirrhotics, IL-10 showed a significant reduction at Week 4 after treatment start. In cirrhotics, IL-10 showed a significant reduction at Week 4 after treatment starts and a significant reduction at Week 12 after the end of the treatment. At Week 12 after the end of the treatment, serum IL-10 levels were significantly lower in cirrhotics. IFN-γ showed nonsignificant changes in noncirrhotics. A significant increase of IFN-γ occurred in cirrhotics from Week 4 after treatment starts to 12 weeks after the end of the treatment. IFN-γ was significantly higher in cirrhotics at Week 12 after the end of the treatment. IFN-γ and IL-10 showed different correlations with laboratory markers.

Conclusion: Viral eradication induced by DAAs caused a significant change in IL-10 and IFN-gamma.