LncRNA ILF3AS1, MMP3, and MMP9 as well as miRNA-212 as emerging novel biomarkers for childhood epilepsy.

Background: Globally, approximately 70 million people suffer from epilepsy. Infants constitute a significant percentage of these cases. Hence, there is a significant need for better understanding of the pathophysiology of epilepsy through laboratory and radiological methods for early detection and optimized management. Interleukin enhancer binding factor 3 antisense RNA l (ILF3AS1) is a long non-coding RNA (lncRNA) that enhances the expressions of matrix metalloproteinase 3 (MMP3) and matrix metalloproteinase 9 (MMP9), which are considered to be epileptogenic. Aim: We aimed to assess the serum expressions of the lncRNAs ILF3AS1, MMP3, and MMP9 along with microRNA-212 (miRNA-212) as predictive biomarkers in children with epilepsy; we also assessed their correlations with magnetic resonance imaging (MRI) findings. Subjects and Methods: Fifty children with epilepsy and fifty healthy controls were considered in this study. Serum expressions of the lncRNA ILF3AS1 and miRNA-212 were estimated by quantitative real-time polymerase chain reaction (qPCR). Serum concentrations of MMP3 and MMP9 were estimated by enzyme-linked immunosorbent assay (ELISA) in parallel with MRI findings and different baseline biochemical parameters of all the subjects. Results: The results showed significantly higher levels of lncRNAs ILF3AS1, MMP3, and MMP9 as well as lower levels of miRNA-212 in children with epilepsy compared to the controls. The fold-change of miRNA-212 was a significant negative predictor (odds ratio = 0.153, p = 0.000). The receiver operating characteristic curves (Roc) showed that the areas under the curves for MMP3, MMP9, and lncRNA ILF3AS1 as well as the fold-change for miRNA-212 were 0.659, 0.738, 0.656, and 0.965, respectively. Brain lesions were detected in 15 patients (30%) with epilepsy, whereas the remaining 35 patients (70%) had normal results. Conclusion: Serum levels of the lncRNA ILF3AS1 among children with epilepsy were higher than those in the control group and were associated with upregulation of both MMP3 and MMP9 as well as downregulation of miRNA-212 expressions, suggesting their predictive utility in monitoring the development of epilepsy; this also means that a treatment plan focusing on the ILF3AS1/miRNA-212/MMP3/MMP9 axis could be an effective strategy for treating epilepsy.

Impact of Toll-like receptor 2 (rs5743708) gene polymorphism in pediatric pneumonia: risk and severity.

Pediatric pneumonia is a common respiratory infection that affects children and is thought to be a major source of mortality and morbidity worldwide, particularly in low- and middle-income nations. Toll-like receptor2 (TLR2) is an important receptor involved in the recognition of bacterial pathogens and the activation of the immune response. Genetic variability in TLR2 may partially explain individual differences in susceptibility to infections. The purpose of this study was to investigate the possible contribution of the TLR2 (rs5743708) variant to the risk and severity of pediatric pneumonia infection. The study included 100 pediatric patients diagnosed with pneumonia and 100 normal controls who were age and gender matched. Real-time polymerase chain reaction (PCR) was used to genotype participants for the TLR2 (rs5743708) variant. The analysis revealed that children with the TLR2 (rs5743708) (G/A) genotype showed a 2.52-fold greater risk of having pneumonia (OR: 2.52; 95% CI: 1.32-4.79; p = 0.005) in comparison with patients who have wild homozygous genotypes. Furthermore, we observed that the TLR2 (rs5743708) (A) allele is connected to a greater risk of pneumonia infection in children (OR: 1.612; 95% CI: 1.07-2.43; p = 0.023) but did not significantly influence infection severity. In conclusion, children with the TLR2 (rs5743708) mutant (G/A) genotype and (A) allele had a significantly higher risk of having pneumonia, but they were not at high risk for the severity of the infection.

Association between angiotensin converting enzyme gene polymorphism (rs4343) and susceptibility to gestational hypertension and preeclampsia in pregnant women.

Hypertension is the most frequent medical complication of pregnancy, and the most severe clinical presentation of hypertensive disorders of pregnancy (HDP) is preeclampsia (PE). PE is a condition significantly associated with maternal and perinatal morbidity and mortality. The etiology of PE remains unknown. However, it has been found that genetic factors cause a defective immune adaptation, which in turn leads to inadequate trophoblast invasion and inappropriate placenta development. This study involved 30 patients with gestational hypertension (GH), 30 patients with PE and 30 normotensive pregnant women as controls. We aimed to evaluate the association between the angiotensin-converting enzyme (ACE) gene polymorphism (rs4343) and susceptibility to GH and PE. Genotyping for rs4343 polymorphism was performed by real-time polymerase chain reaction. The differences of genotypes and allele frequencies were analyzed as well as the relationship between ACE polymorphism and susceptibility to PE. The GG genotype of ACE gene rs4343 and G allele frequency were significantly associated with increased risk of PE [OR (95% CI) 10.3125 (2.1043 to 50.5388), p=0.004 and OR (95% CI) 3.4714 (1.6352 to 7.3697), p = 0.001, respectively]. Also, G allele frequency was significantly associated with severity of PE [OR (95% CI) 15.5455 (1.8938 to 127.6075), p = 0.011]. However, the GG genotype and G allele frequency were not associated with GH. In conclusion, ACE rs4343 polymorphism may be associated with PE susceptibility and severity but not with GH.

Correlation between serum copeptin and urinary aquaporin-2 levels in children with primary monosymptomatic nocturnal enuresis.

OBJECTIVES: To determine the utility of serum copeptin and urinary aquaporin-2 (AQP2) levels in diagnosing primary monosymptomatic nocturnal enuresis (PMNE) in children. METHODS: This study comprised 58 children (30 males and 28 females), aged 9.7 (±2.9) years with PMNE enuresis. Another 29 children (16 males and 13 females) aged 10.2 (±3.3) without nocturnal enuresis (NE) were recruited as a control group. History taking, clinical examination, and assessment of serum copeptin (blood) and AQP-2 levels (urine) were performed in all participants. RESULTS: Serum levels of copeptin, potassium and urinary AQP-2, and urine creatinine levels were lower in the PMNE group compared to the control group (p < 0.001 for all). No significant differences in body mass index, urine specific gravity, serum sodium, serum creatinine, or estimated glomerular filtration rate were observed between groups. This study evaluated both serum copeptin and AQP-2 levels in healthy and enuretic children. CONCLUSIONS: In this study, serum levels of copeptin (blood) and AQP2 (urine) were significantly lower in enuretic patients compared to healthy controls. Further, the measurement of urinary AQP-2 levels is more practical than serum copeptin levels due to lower invasiveness.