Background Epilepsy is one of the most widely recognized neurological disorders; unfortunately, twenty to thirty percent of patients do not get cured from epilepsy, despite many trials of antiepileptic drug (AED) therapy. Immunotherapy may be a viable treatment strategy in a subset of epileptic patients. The association between Toll-like receptor polymorphisms and epilepsy clarifies the role of the immune system in epilepsy and its response to the drug. Thus, this study will focus on the relation between TLR4 rs1927914, rs11536858, rs1927911SNPs, and epilepsy in an Egyptian case-control study to assess their link to antiepileptic drug response. Results According to TLR4 rs1927914, there is a significant association between the SNP and the development of epilepsy, as CC genotype is 15.3 times more at risk for developing epilepsy than TT genotype, and CT is 11.1 times more at risk for developing epilepsy than TT. Also, patients with CC genotypes are 6.3 times more at risk for developing primary epilepsy than TT genotype. According to rs11536858, there is a significant association between cases and control groups, as AA genotypes are found to be more at risk for developing epilepsy than GG genotypes. Also, there is a statistically significant association between clonazepam resistance and rs11536858, as p value < 0.001* with the highest frequency of TT genotypes at 4.3%. According to rs1927911, there are no significant results between the cases and the control groups or between drug-responsive and drug resistance. Conclusion Possible involvement of the Toll-like receptor clarifies the importance of innate immunity in initiating seizures and making neuronal hyperexcitability. In this work, multiple significant associations between TLR SNPs and epilepsy, epileptic phenotype, and drug-resistant epilepsy have been found. More studies with bigger sample sizes and different techniques with different SNPs are recommended to find the proper immunotherapy for epilepsy instead of the treatment by antiepileptic drugs.

Background: There are insufficient data about the presence of E. albertii as a causative organism in urinary tract infection in pediatric patients. Objective: The present study aimed to detect E. albertii by polymerase chain reaction (PCR) for detection of uidA, mdh, and lysP genes among isolated E.coli from children with urinary tract infection. Methods: The present study was a cross-sectional retrograde study which was carried out on 100 isolates of phenotypically confirmed E.coli detected in urine samples of children suffering from urinary tract infection. The isolates were subjected to molecular identification by PCR for uidA, mdh, and lysP genes. Results: E. albertii was identified by PCR in 7% of the isolates and E.coli was identified in 93% of the isolates. Two mdh and lysP genes were detected for E. albertii and the uidA gene for E. coli. E. albertii isolates had marked resistance to gentamicin (71.4%), followed by resistance to ciprofloxacin (57.1%), meropenem and imipenem (42.9% each) and ESBL activity by double discs method was reported in 57.1% of the isolates. However, none of the isolates had shown resistance to nalidixic acid and only one isolate had resistance to norfloxacin. There was a statistically insignificant difference between resistance to the used antibiotics such as aztreonam (P=0.083), ampicillin/clavulanate (P=0.5), ciprofloxacin (P=0.69), gentamicin (P=0.3) and ceftazidime (P=1.00). Conclusion: The present study highlights the emergence of E. albertii as a pathogen associated with urinary tract infections in children. There is marked antibiotic resistance of this pathogen, especially toward extended spectrum beta-lactams antibiotics. The identification method depends mainly on genetic studies. Further longitudinal studies with large number of patients are required to verify the accurate prevalence of this bacterium.

This study aimed to evaluate the incidence and clinical and prognostic impact of TERT A1062T mutation in AML patients treated at Mansoura Oncology Center. Screening for TERT A1062T mutation in exon 15 of the TERT gene was performed on diagnostic DNA samples from 153 AML patients and 197 healthy subjects as a control group by using sequence-specific primers. TERT A1062T mutation was detected in 18 cases out of 153 patients (11.8 %) and in one out of 197 control group subjects (0.51 %). The achievement of complete remission was significantly higher in AML group with wild type as compared to that in the mutant one (53.3 vs 16.7 %, respectively). In addition, the relapse rate was significantly higher in the mutant patients as compared to those with wild type (62.5 vs 28.2 %, respectively). The AML patients with TERT (A1062T) mutation had shorter overall survival than patients with wild type (P = 0.001). In a multivariable analysis, TERT (A1062T) mutational status is independently worse predictor factor (P = 0.007) when controlling for cytogenetic status (P = <0.001), performance status (P = <0.001) and bone marrow blast cells (P = 0.001). In conclusion, TERT A1062T mutation is an independent negative prognostic factor in AML patients. Therefore, molecular testing for TERT A1062T mutation in patients with AML is recommended in order to delineate their prognostic status.

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Mannose binding lectin (MBL) is an important component of innate immunity particularly in neonates whose adaptive immunity is not fully developed. Polymorphism in MBL2 gene promoter and exon1 determines MBL serum level and function. The aim of this study was to investigate the frequency of different MBL2 genotypes in neonatal sepsis among patients of neonatal intensive care unit (NICU). Two hundred and forty-five neonates were enrolled in this study (127 infected and 118 uninfected controls). Multiplex PCR and double amplification refractory mutation system (dARMS) were used for typing of MBL2 exon1 and promoter respectively. Klebsiella species were the most frequently isolated organisms (22.8%). There is no statistical significance difference in the distribution of different expression genotypes between infected group and controls (P = 0.11). However, prevalence of low MBL2 expression genotypes (XA/O and O/O) was higher in infected patients compared to control group (patients 25.2% and controls 15.3%). Low and medium MBL2 expression genotypes were mostly associated with Gram-negative bacterial infections (18.9% and 22.8%) respectively. A statistically significant association of Gram-negative bacterial infections with low MBL2 expression genotypes was found (P = 0.02). Higher frequency of AB and BB genotypes was observed (31.5% and 7.9%) in patients group compared to control, but without statistical significant difference.