Role of Endothelial Nitric Oxide Synthase Gene Polymorphisms (Glu298Asp) in Egyptian Patients with Recurrent Spontaneous Abortion

Background: Previous studies indicated an association between endothelial nitric oxide synthase (eNOS) activity and maintenance of pregnancy, but it is rather controversial whether polymorphisms of the gene encoding for eNOS are associated with recurrent spontaneous abortions (RSAs). Aim: The aim was to investigate whether the presence of maternal polymorphism Glu298Asp in exon seven of the eNOS gene increase the risk of RSA in Egyptian women.Subjects and Methods: Hundreds women were randomly selected as the case group. They had at least three RSA before 20th weeks of gestation, same partner and at least one live birth and compared with 100 women, same age range, with no history of abortions or complicated pregnancy as control group. All were investigated for the polymorphism using the polymerase chain reaction‑restriction fragment length polymorphisms method. Data were expressed descriptively as percentages for qualitative values and mean ± standard deviation for quantitative parametric data and comparison of qualitative data was done. Results: Frequency of GG genotype 50/100% in cases and 67/100% in control group. Heterozygous GT frequency was 46/100% in cases and 26/100% in control (P ≤ 0.01, odds ratio [OR] =2.37, and 95% confidence interval [CI] =1.30–4.34). Homozygous TT was 4/100% in the cases and at 7/100% in control (P = 0.68, OR = 0.77, and 95% CI = 0.21–2.76). GG genotype versus GT and GG (P = 0.01, OR = 2.03, and 95% CI = 1.15–3.60). Cases with TT genotype were more susceptible to abortion at an older age with a mean of 29 (4.76) (P = 0.02). Conclusion: In conclusion, (eNOS) Glu298Asp polymorphism was found to be associated with increased risk of RSA in this sample of Egyptian women.KEY WORDS: Endothelial nitric oxide, polymorphism, recurrent spontaneous abortions, synthas

Fighting the Progress of COVID-19 by Enhancing Immunity: A Review of Traditional Sudanese Natural Products Containing Immune-Boosting Elements

The World Health Organization has classified the coronavirus disease outbreak as a worldwide pandemic as a result of the COVID-19 expansion. According to medical professionals, individuals with strong immunity often outlive infections more frequently than those with poor immunity. The COVID-19 pandemic has prompted the need for novel approaches to treating the illness and its symptoms. Natural products from plants are increasingly being seen favorably in comparison to synthetic ones in the fight against diseases. As a result, in order to avoid contracting any unanticipated illnesses, individuals must increase their immunity by eating more dietary supplements and by taking drugs that have immune-boosting properties. This review aimed to give a general overview of some traditional Sudanese foods and drinks that are rich in immune-boosting elements, and accordingly, they could be safely recommended as an adjuvant dietary supplement to improve the immune system\u27s ability to fight such infections as COVID-19. Also, this review aims to bring attention to the fact that immune boosters may be found in natural sources, which will help pharmaceutical companies by taking some of the load off of them. Electronic databases, including Google Scholar, Scopus, and the Web of Science, were searched for relevant material. The selected articles underwent independent eligibility and information extraction reviews. The review focused on certain traditional Sudanese herbs and their derivatives that are rich in immune-stimulating vitamins and minerals and therefore could possibly be recommended as immune-boosting dietary supplements to help fight COVID-19. This review highlights the fact that the pharmaceutical sector, especially community and hospital pharmacists, could play a vital role in supporting the healthcare system by encouraging their communities to add plants and their products that are rich in immune-boosting vitamins and minerals to their diet

Screening of dystrophin gene deletions in Egyptian patients with DMD/BMD muscular dystrophies

Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are allelic disorders caused by mutations within the dystrophin gene. Our study has identified 100 Egyptian families collected from the Human Genetics Clinic, National Research Center, Cairo. All cases were subjected to complete clinical evaluation pedigree analysis, electromyography studies, estimation of serum creatine phosphokinase enzyme (CPK) levels and DNA analysis. Multiplex PCR using 18 pairs of specific primers were used for screening of deletion mutations within the dystrophin gene. A frequency of 55% of deletions were found among the families. Sixty per cent of detected deletions involved multiple exons spanning the major or the minor hot spot of the dystrophin gene. The remainder 40% involved single exon deletions, which mainly involved exon 45. Comparing these findings with frequencies of other countries it was found that our figures fall within the reported range of 40%-60% for deletions. The distribution of deletions in our study and other different studies was variable and specific ethnic differences do not apparently account for specific deletions. In addition this study concluded that employment of the 18 exon analysis is a cost effective and a highly accurate (97% detection rate) method to be considered when planning to launch a nationwide program

Antimicrobial activity of 7,3ʹ,4ʹ-trihydroxyflavonol isolated from Acacia nilotica var. ad stringens

Acacia species (Mimosaceae) is widely distributed in tropical and subtropical countries and has a variety of ethnomedicinal uses. There is inadequate laboratory investigation to identify bioactive compounds and therapeutic effect of Acacia nilotica var. ad stringens. This research has been conducted to extract, isolate and identify major compounds from heartwood of Acacia nilotica var. ad stringens and to test them against representative bacteria. Powdered air-dried heartwood of A. nilotica var. ad stringens has been extracted with methanol/water, 4:1 and the extract has been then purified using chromatographic techniques (column and paper chromatography). A pure flavonoid compound has been isolated and the structure has been elucidated based on extensive spectroscopic analysis procedures (IR, UV, 1H NMR, and mass spectrometery). The isolated compound has then been evaluated for antimicrobial potential against Gram-negative (Escherichia coli and Pseudomonas aeruginosa) and Gram-positive bacteria (Bacillus subtilis, Bacillus cereus, and Staphylococcus aureus) using cup-plate agar diffusion method. The spectroscopic analysis of the isolated compound has led to its identification as 7,3ʹ,4ʹ-trihydroxyflavonol. The compound shows varying antimicrobial responses with high potency against Gram-negative human pathogens. The Gram-positive bacteria which are inhibited are Bacillus cereus, Corynebacterium sp., Enterococcus faecalis, Staphylococcus aureus , and Streptococcus agalactiae. The Gram-negative bacteria are Acinetobacterbaumannii , Acinetobacter sp. , Escherichia coli, Pseudomonas aeruginosa and yeasts are Candida albicans and Cryptococcus neoformans. The present study has demonstrated that 7,3ʹ,4ʹ-trihydroxyflavonol is an effective antimicrobial compound. If applied in suitable pharmaceutical formulations it could be valuable for treating various bacterial infections or introduced as adjunct treatment along with standard agents.

Frequency of Hereditary Hemochromatosis (HFE) Gene Mutations in Egyptian Beta Thalassemia Patients and its Relation to Iron Overload

AIM: This study aimed to detect the most common HFE gene mutations (C282Y, H63D, and S56C) in Egyptian beta thalassemia major patients and its relation to their iron status. SUBJECTS AND METHODS: The study included 50 beta thalassemia major patients and 30 age and sex matched healthy persons as a control group. Serum ferritin, serum iron and TIBC level were measured. Detection of the three HFE gene mutations (C282Y, H63D and S65C) was done by PCR-RFLP analysis. Confirmation of positive cases for the mutations was done by sequencing.RESULTS: Neither homozygote nor carrier status for the C282Y or S65C alleles was found. The H63D heterozygous state was detected in 5/50 (10%) thalassemic patients and in 1/30 (3.3%) controls with no statistically significant difference between patients and control groups (p = 0.22). Significantly higher levels of the serum ferritin and serum iron in patients with this mutation (p = 001).CONCLUSION: Our results suggest that there is an association between H63D mutation and the severity of iron overload in thalassemic patients

Antimicrobial activity of 7,3ʹ,4ʹ-trihydroxyflavonol isolated from Acacia nilotica var. ad stringens

1117-1120Acacia species (Mimosaceae) is widely distributed in tropical and subtropical countries and has a variety of ethnomedicinal uses. There is inadequate laboratory investigation to identify bioactive compounds and therapeutic effect of Acacia nilotica var. ad stringens. This research has been conducted to extract, isolate and identify major compounds from heartwood of Acacia nilotica var. ad stringens and to test them against representative bacteria. Powdered air-dried heartwood of A.nilotica var. ad stringens has been extracted with methanol/water, 4:1 and the extract has been then purified usingchromatographic techniques (column and paper chromatography). A pure flavonoid compound has been isolated and thestructure has been elucidated based on extensive spectroscopic analysis procedures (IR, UV, 1H NMR, and mass spectrometery). The isolated compound has then been evaluated for antimicrobial potential against Gram-negative (Escherichia coli and Pseudomonas aeruginosa) and Gram-positive bacteria (Bacillus subtilis, Bacillus cereus, and Staphylococcus aureus) using cup-plate agar diffusion method. The spectroscopic analysis of the isolated compound has led to its identification as 7,3ʹ,4ʹ-trihydroxyflavonol. The compound shows varying antimicrobial responses with high potency against Gram-negative human pathogens. The Gram-positive bacteria which are inhibited are Bacillus cereus, Corynebacterium sp., Enterococcus faecalis, Staphylococcus aureus , and Streptococcus agalactiae. The Gram-negative bacteria are Acinetobacterbaumannii , Acinetobacter sp. , Escherichia coli, Pseudomonas aeruginosa and yeasts are Candida albicans and Cryptococcus neoformans. The present study has demonstrated that 7,3ʹ,4ʹ-trihydroxyflavonol is an effective antimicrobial compound. If applied in suitable pharmaceutical formulations it could be valuable for treating various bacterial infections or introduced as adjunct treatment along with standard agents

Relation between microRNAs and Apoptosis in Hepatocellular Carcinoma

AIM: To determine the relation between serum microRNAs and apoptotic markers as regards development of HCC to understand the underlying mechanism of HCV related hepatocarcinogenesis. PATIENTS AND METHODS: A total of 65 serum samples (25 samples from controls, 20 samples from hepatitis and 20 samples from HCC patients) were collected for miRNAs (mir 21, mir 199-a, and mir 155) detection. Human Programmed cell death protein-4 (PDCD-4) and Human Cytochrome-C (CYT-C) were determined. RESULTS: miRNAs 21 and 155 were over expressed in sera of patients with HCC compared to patients with chronic hepatitis (p < 0.0001). While serum means values of miR 199a was significantly decreased among HCC group patients when compared to patients with chronic hepatitis (p < 0.0001). The serum levels of PCDC4 and CYTC were increased in patients with HCC when compared to chronic hepatitis patients. They were also increased in patients with chronic hepatitis when compared to controls (p < 0.05, significant). There was direct correlations between apoptotic markers and oncomirs miRNAs 21 and 155 while apoptotic markers were inversely correlated with miRNA 199-a. CONCLUSION: Both microRNAs and apoptotic markers have roles in HCC pathogenesis. It seems that oncogenic microRNAs induce liver carcinogenesis in HCV patients irrespective of suppression of apoptosis.AIM: To determine the relation between serum microRNAs and apoptotic markers as regards development of HCC to understand the underlying mechanism of HCV related hepatocarcinogenesis. PATIENTS AND METHODS: A total of 65 serum samples (25 samples from controls, 20 samples from hepatitis and 20 samples from HCC patients) were collected for miRNAs (mir 21, mir 199-a, and mir 155) detection. Human Programmed cell death protein-4 (PDCD-4) and Human Cytochrome-C (CYT-C) were determined. RESULTS: miRNAs 21 and 155 were over expressed in sera of patients with HCC compared to patients with chronic hepatitis (p < 0.0001). While serum means values of miR 199a was significantly decreased among HCC group patients when compared to patients with chronic hepatitis (p < 0.0001). The serum levels of PCDC4 and CYTC were increased in patients with HCC when compared to chronic hepatitis patients. They were also increased in patients with chronic hepatitis when compared to controls (p < 0.05, significant). There was direct correlations between apoptotic markers and oncomirs miRNAs 21 and 155 while apoptotic markers were inversely correlated with miRNA 199-a. CONCLUSION: Both microRNAs and apoptotic markers have roles in HCC pathogenesis. It seems that oncogenic microRNAs induce liver carcinogenesis in HCV patients irrespective of suppression of apoptosis

Early-infantile onset epilepsy and developmental delay caused by bi-allelic GAD1 variants.

Gamma-aminobutyric acid (GABA) and glutamate are the most abundant amino acid neurotransmitters in the brain. GABA, an inhibitory neurotransmitter, is synthesized by glutamic acid decarboxylase (GAD). Its predominant isoform GAD67, contributes up to ∼90% of base-level GABA in the CNS, and is encoded by the GAD1 gene. Disruption of GAD1 results in an imbalance of inhibitory and excitatory neurotransmitters, and as Gad1-/- mice die neonatally of severe cleft palate, it has not been possible to determine any potential neurological dysfunction. Furthermore, little is known about the consequence of GAD1 disruption in humans. Here we present six affected individuals from six unrelated families, carrying bi-allelic GAD1 variants, presenting with developmental and epileptic encephalopathy, characterized by early-infantile onset epilepsy and hypotonia with additional variable non-CNS manifestations such as skeletal abnormalities, dysmorphic features and cleft palate. Our findings highlight an important role for GAD1 in seizure induction, neuronal and extraneuronal development, and introduce GAD1 as a new gene associated with developmental and epileptic encephalopathy

Are single nucleotide polymorphisms rs7903146 and rs12255372 in transcription factor 7-like 2 gene associated with an increased risk for gestational diabetes mellitus in Egyptian women?

Abstract Background Genetic variants in the transcription factor 7-like 2 (TCF7L2) gene are related with type 2 diabetes (T2D) and gestational diabetes mellitus (GDM) in various populations, but there are not enough statistics regarding GDM among Egyptian women. We aimed by this study to evaluate the effect of two polymorphisms of rs7903146 and rs12255372 in the TCF7L2 gene with the development of GDM among Egyptian women. Results We enrolled 114 pregnant women with normal glucose tolerance and 114 with GDM according to the International Association of Diabetes and Pregnancy Study Groups (IADPSG) guidelines. We gathered records on blood pressure, body mass index (BMI), blood glucose level, hemoglobin A1C (HbA1c), and lipid profile. The genotyping of rs7903146 and rs12255372 polymorphisms was carried out using polymerase chain reaction–restriction fragment length polymorphism (PCR-RFLP). The statistical significance of prepregnancy BMI, fasting blood sugar (FBS), HbA1c, low-density lipoprotein (LDL), and total cholesterol (Tch) was higher, P < 0.001, in GDM women in comparison to pregnant women without GDM. CT and TT genotypes in rs7903146 SNP were 46.5% vs. 54%, P <0.04, OR; CI = 1.9 (1.0 to 3.78); TT carriers were 37.7% vs. 9.6%, P <0.001, OR (CI) = 8.9 (3.7–21.1), respectively. For the TCFL2 gene rs12255372 SNP, GT carriers were 48.2% vs. 39.5%, P= 0.004, OR (CI) = 2.3 (1.3–4.2), while TT carriers were 24.6% vs. 7.9%, P < 0.001, OR (CI) = 6 (2.5–14.3). Conclusion The study showed there is a significantly higher incidence of CT/TT genotypes in rs7903146 SNP and GT/TT genotypes in rs12255372 SNP in TCF7L2 gene among GDM women in comparison to healthy pregnant women (controls)

Antibiotics Susceptibility Pattern of Escherichia coli Strains Isolated from Broiler and Layer Chicken with Colisepticemia in Sudan

A total of fifty seven E. coli strains isolated from 43 broiler and14 layer farms with colisepticemia in Khartoum and Gezera state were investigated for antimicrobial susceptibility to ten antibiotic agents of Veterinary and human significant .Antibiotic activity against the isolate were determined by Disc diffusion test .Antimicrobial resistance of isolates was found for Gentamycin (26%) and Ciprofloxacin (39%) as less resistant antibiotic, Lincomycin (98%) and kanamycin and amoxicillin (95%) as more resistant antibiotics. Multiple drug resistances were observed in all isolates.Twenty nine different resistance pateren were demonstrated Results obtained confirmed the presence of antibiotic resistant to poultry pathogen in poultry farms in Khartoum and Gezera state.it is recommended that antibiotic use in the management of collibacillosis in the farms should be based on the result of susceptibility tests because other than poultry health problems transmission of resistant e coli to human can occur.Keywords: antibiotic susceptibility. Colisepticemia, Escherichia coli, Chicken Khartoum and Gezera ,Suda