A Treatable Genetic Disease Caused by CAD Mutation.

Type 50 early infantile epileptic encephalopathy, or EIEE-50 for short, is an autosomal recessive genetic disorder resulting from CAD mutations. So far, little has been reported on the disease. In this article, we will discuss the case of a male infant who is 8 years and 5 months old. A whole-exome sequencing of the boy revealed CAD compound heterozygous mutations. He suffered from global developmental delay and regression, refractory epilepsy, and anemia. After his diagnosis, we used uridine treatment and gained encouraging results. In this article, we will analyze our case studies in the context of the literature, so as to improve pediatricians' understanding of the disease.

The Protective Effect of Breastfeeding on Febrile Seizures: A Case-Control Study.

Objective: Our study was performed to analyze the interrelationship between breastfeeding for the first 6 months of life and the incidence of febrile seizures (FS). Study Design: A case-control study was conducted in Renmin Hospital of Wuhan University. Three hundred thirty-six patients diagnosed with FS were enrolled as the case group, and 336 febrile children with matched age and gender were enrolled as the control group. Clinical information of all cases was collected from the Electronic Medical Record, including feeding patterns. The primary outcome was the difference of feeding modes between cases and controls, while the secondary outcome included the difference of feeding patterns between simple FS (SFS) and complex FS (CFS). Results: The 336 patients with FS comprised 294 with SFS and 42 with CFS. The difference in feeding methods between the case group and the control group was statistically significant, and children who were breastfed exclusively had a lower risk of suffering from FS compared with formula feeding (odds ratio [OR], 0.504 and 95% confidence interval [CI], 0.303-0.841); although partial breastfeeding exhibited a slight protective effect against FS, the protective role was not statistically significant (OR, 1.016 and 95% CI, 0.560-1.846). In addition, our dates showed that feeding mode was not a risk factor in the occurrence of SFS or CFS (p > 0.05). Conclusion: Our data confirm that exclusive breastfeeding is an independent protective factor that can reduce the occurrence of FS.

The Role and Effects of ANXA1 in Temporal Lobe Epilepsy: A Protection Mechanism?

BACKGROUND The endogenous protein annexin A1 (ANXA1) is an anti-inflammatory mediator in the brain that is thought to contribute to the progression of many neurological conditions. However, its exact role in temporal lobe epilepsy (TLE) remains unclear. We hypothesized that ANXA1 exerts negative actions on TLE by alleviating inflammatory damage in neurons. To identify the potential mechanism of TLE by assessing ANXA1 expression in TLE rats. MATERIAL AND METHODS TLE was induced in rats (n=70) via an intraperitoneal injection of lithium chloride (LiCl) and pilocarpine (PILO). The control group (n=10) received an injection of the equivalent amount of saline. ANXA1 expression was detected via immunohistochemistry and Western blotting. RESULTS Successful establishment of the TLE model in rats resulted in epileptic seizures. ANXA1 was immunohistochemically detected as brownish yellow particles in the dentate gyrus and the CA1 region of the door zone; this expression was predominantly localized to the cytoplasm of glia rather than neurons. ANXA1 expression was stronger in TLE rats compared with the control group. ANXA1 expression in TLE was also assessed via Western blotting, and compared between groups at various time points. ANXA1 expression was significantly increased in the acute (the first 24 h) and chronic (after 1 month) phases (P<0.001) but significantly decreased during the recovery phase (72 h, 1 week, and 2 weeks) (P<0.001). These findings suggest that ANXA1 expression is correlated with TLE activity. CONCLUSIONS Our data suggest that ANXA1 plays an important role in TLE by alleviating inflammatory damage and protecting neurons.