The study of rs324420 (C385A) polymorphism of the FAAH gene of the endocannabinoid system in patients with epilepsy and ADHD.

The endocannabinoid (eCB) system regulates many physiological functions in the central nervous system. Fatty acid amide hydrolase (FAAH) is an essential enzyme in the eCB system, degrading anandamide. Single nucleotide polymorphism (SNP) rs324420 is a common genetic polymorphism of the FAAH gene and has been associated with susceptibility to neurological conditions. This study examined whether the SNP rs324420 (C385A) is associated with epilepsy and attention deficit hyperactivity disorder (ADHD). This study consists of two case-control parts. The first part comprises 250 epilepsy subjects and 250 healthy individuals as controls. The second one comprises 157 cases with ADHD and 136 healthy individuals as controls. Genotyping was carried out using polymerase chain reaction and restriction fragment length polymorphism (PCR-RFLP) technique. Interestingly, the FAAH C384A genotype (OR 1.755, 95 % CI 1.124-2.742, p = 0.013) and allele (OR 1.462, 95 % CI 1.006-2.124, p = 0.046) distribution showed an association with generalized epilepsy. On the other hand, this SNP was not associated with the risk of ADHD. To our knowledge, there was no study on the association between rs324420 (C385A) polymorphism and the risks of ADHD or epilepsy. This study provided the first evidence of an association between generalized epilepsy and rs324420 (C385A) of FAAH. Larger sample sizes and functional studies are warranted to explore the clinical utility of FAAH genotyping as a possible marker for increased generalized epilepsy risk.

Considerations about the implementation of an autism screening program in Iran from the viewpoints of professionals and parents: a qualitative study.

BACKGROUND: The aims of this study were to explore to explore the viewpoints of parents of children with Autism Spectrum Disorders (ASD) and professionals regarding the implementation of screening programs for ASD, to explore the challenges of the implementation of a universal screening program for ASD in Iran from their viewpoints, and, to explore their recommendations to overcome the potential challenges. METHOD: This qualitative study was conducted using an inductive content analysis, between June 2018 and December 2018, in East-Azerbaijan province of Iran. Data was collected through in-depth interviews and focus group discussions. The participants were purposively selected among two groups: representatives of health system and representatives of children with ASD. A sample of 32 parents and 30 professionals were recruited in this study. RESULTS: Totally, 9 main themes and 23 sub-themes were extracted in three main areas including: viewpoints of the participants about universal screening for ASD, challenges in implementation of the universal screening program, and participants' recommendations about how to overcome the potential challenges. Main challenges in implementation of the universal screening program included: shortages of ASD screening tools, weakness of the health system, lack of coordination among the ASD service providers, and social and ethical issues. CONCLUSION: The parents and the professionals had different viewpoints about the implementation of ASD universal screening program in Iran. According to the professionals, there is not enough rational to implement ASD screening program for all children. However, the parents believed that universal screening program is inevitable, and it should be implemented in primary health centers during the early child-care visits. The results of this study open up unspoken issues that could help in initiating the screening program not only in Iran but also in other low- and middle-income countries as well.

Effects of Hyperthermia on TRPV1 and TRPV4 Channels Expression and Oxidative Markers in Mouse Brain.

Heat stress increases the core body temperature through the pathogenic process. The pathogenic process leads to the release of free radicals, such as superoxide production. Heat stress in the central nervous system (CNS) can cause neuronal damage and symptoms such as delirium, coma, and convulsion. TRPV1 (Transient Receptor Potential Vanilloid1) and TRPV4 genes are members of the TRPV family, including integral membrane proteins that act as calcium-permeable channels. These channels act as thermosensors and have essential roles in the cellular regulation of heat responses. The objective of this study is to examine the effect of general heat stress on the expression of TRPV1 and TRPV4 channels. Furthermore, oxidative markers were measured in the brain of the same heat-stressed mice. Our results show that heat stress leads to a significant upregulation of TRPV1 expression within 21-42 days, while TRPV4 expression decreased significantly in a time-dependent manner. Alterations in the oxidative markers were also observed in the heat-stressed mice.