Background: Febrile infection-related epilepsy syndrome is associated with high mortality and morbidity rates. No systematic review of demographics, aetiologies, good treatment options, and causes of deaths has been performed. Thus, we aimed to focus on these factors to provide a structure for patient management and research. Methods: A deep literature search was performed in PubMed and Embase of all years until May 2019. Results: We retrieved 45 aSrticles: 3 multicentre cohort studies, 13 single-centre cohorts, 1 case series, and 28 case reports. We identified 229 cases: most were from Asia; 53% were males; 11.4% had several types of antibodies, and the most common was anti-glutamate receptor epsilon 2; 30% (69 cases) had good treatment outcomes; 12.2% died; and 56% remained with drug-resistant epilepsies. Univariate analysis revealed a statistically significant association between positive outcomes in Japan and China, the use of the ketogenic diet either acutely or chronically, and the use of steroids acutely or chronically. Taiwan showed a statistically significant association with negative outcomes. Multivariate logistic regression revealed the utilisation of the ketogenic diet in the acute phases (P = 0.008, OR = 3.613) and being in Japan (P = 0.003, OR = 3.146) as independent determinants of positive outcomes. Most of the deaths occurred because of the progress of the disease rather than complications of the drugs. Conclusions: Asians are more affected and several cases have antibodies. Positive outcomes are associated with being in Japan and the utilisation of the ketogenic diet in the acute phase.

This study aims to explore the associations between parental occupational exposures to endocrine disruptors (EDs) and simple isolated congenital heart defects (CHDs). A case-control study with standardized data collection involving 761 children with isolated CHDs and 609 children without any congenital malformations was conducted in Sichuan Province of China from March in 2012 to August in 2013. An adjusted job exposure matrix was used for occupational EDs exposure assessment. Logistic regression analysis was performed to assess the associations between parental occupational EDs exposures and CHDs. Maternal age at births, maternal education level, gravity, parity, induced abortion, folic acid use, medication use, drinking capacity and area of residence periconceptionally were selected as confounding factors for mothers. For fathers, we selected the following confounding factors: paternal education level, smoking, drinking frequencies and drinking capacity periconceptionally. Maternal occupational exposures to phthalates are associated with perimembranous ventricular septal defect (PmVSD) (P = 0.001, adjusted OR 3.7, 95 % CI 1.7-8.0), patent ductus arteriosus (PDA) (P = 0.002, adjusted OR 3.8, 95 % CI 1.6-8.9), secundum atrial septal defect (s-ASD) (P = 0.008, adjusted OR 3.5, 95 % CI 1.4-8.7) and pulmonary valve stenosis (PS) (P = 0.035, adjusted OR 4.2, 95 % CI 1.1-16.0), to alkylphenolic compounds and PmVSD (P = 0.003, adjusted OR 2.2, 95 % CI 1.3-3.6), PDA (P = 0.005, adjusted OR 2.0, 95 % CI 1.1-3.5) and PS (P = 0.004, adjusted OR 3.8, 95 % CI 1.5-9.4), to heavy metals with PmVSD (P = 0.003, adjusted OR 7.3, 95 % CI 2.0-27.6) and s-ASD (P = 0.034, adjusted OR 6.5, 95 % CI 1.1-36.7). Paternal occupational exposures to phthalates are associated with PmVSD (P = 0.035, adjusted OR 1.6, 95 % CI 1.0-2.4) and PS (P = 0.026, adjusted OR 2.4, 95 % CI 1.1-5.2), to alkylphenolic compounds (P = 0.027, adjusted OR 1.5, 95 % CI 1.0-2.2) with PmVSD. In conclusion, parental occupational exposures to some specific EDs, in particular phthalates and alkylphenolic compounds, are associated with an increased risk of some CHD phenotypes. However, the findings need to be considered more circumspectly regarding a crude measure of exposure probabilities and small numbers.

BackgroundsThe etiology of congenital heart defect (CHD) is commonly believed to involve the interaction of multiple environmental and genetic factors. This study aimed to explore the joint effects of the ABCB1 gene C3435T polymorphism and maternal periconceptional toxicants exposure on the CHD risk in a Han Chinese population.MethodsAn age and gender matched case-control study with standardized data collection involving 201 pairs was conducted. Periconceptional toxicants exposure was obtained through a structured questionnaire. A job exposure matrix (JEM) was used for toxicants exposure assessment. Genotyping of the ABCB1 C3435T polymorphism was performed by sequencing. Logistic regression analysis was performed to assess the joint effects of the ABCB1 gene C3435T polymorphism and toxicants exposure on the risk of CHD. Placenta tissues and umbilical cords were collected to investigate the impact of C3435T polymorphism on the transcription and translation activities of ABCB1 gene.ResultsMaternal periconceptional exposures to phthalates (adjusted OR: 1.6; 95%CI: 1.0–2.6) and alkylphenolic compounds (adjusted OR:1.8; 95%CI:1.1–3.0) were associated with a higher incidence of CHDs in general. More cases were carriers of the ABCB1 CC/CT genotypes (OR: 2.0, 95%CI: 1.1–3.5, P-value: 0.021). Children carrying the CC/CT genotype and periconceptionally exposed to phthalates and alkylphenolic compounds suffered almost 3.5-fold increased risk of having CHD than non-exposed children with TT genotype (adjusted OR: 3.5, 95%CI: 1.5–7.9, P-value: 0.003), and the OR changed to 4.4 for septal defects (adjusted OR: 4.4,95%CI:1.8–10.9,P-value:0.001). The ABCB1 mRNA expression of the TT genotype was significantly higher than that of the CC genotype (P = 0.03). Compared with TT genotype, lower P-glycoprotein expression was observed for the CC/CT genotypes.ConclusionThe C3435T polymorphism in the ABCB1 gene of fetus increases the risks of CHD in a Han Chinese population when the mothers are exposed to phthalates and alkylphenolic compounds during the periconceptional period, particularly for septal defects.