Gene Mutations in Primary Ciliary Dyskinesia Related to Otitis Media

Otitis media with effusion (OME) is the most common cause of conductive hearing loss in children and is strongly associated with primary ciliary dyskinesia (PCD). Approximately half of the children with PCD require otolaryngology care, posing a major problem in this population. Early diagnosis of PCD is critical in these patients to minimise the collateral damage related to OME. The current gold standard for PCD diagnosis requires determining ciliary structure defects by transmission electron microscopy (TEM) or clearly documenting ciliary dysfunction via digital high-speed video microscopy (DHSV). Although both techniques are useful for PCD diagnosis, they have limitations and need to be supported by new methodologies, including genetic analysis of genes related to PCD. In this article, we review classical and recently associated mutations related to ciliary alterations leading to PCD, which can be useful for early diagnosis of the disease and subsequent early management of OME.     

Non-neuronal cholinergic machinery present in cardiomyocytes offsets hypertrophic signals

Recent work has provided compelling evidence that increased levels of acetylcholine (ACh) can be protective in heart failure, whereas reduced levels of ACh secretion can cause heart malfunction. Previous data show that cardiomyocytes themselves can actively secrete ACh, raising the question of whether this cardiomyocyte derived ACh may contribute to the protective effects of ACh in the heart. To address the functionality of this non-neuronal ACh machinery, we used cholinesterase inhibitors and a siRNA targeted to AChE (acetylcholinesterase) as a way to increase the availability of ACh secreted by cardiac cells. By using nitric oxide (NO) formation as a biological sensor for released ACh, we showed that cholinesterase inhibition increased NO levels in freshly isolated ventricular myocytes and that this effect was prevented by atropine, a muscarinic receptor antagonist, and by inhibition of ACh synthesis or vesicular storage. Functionally, cholinesterase inhibition prevented the hypertrophic effect as well as molecular changes and calcium transient alterations induced by adrenergic overstimulation in cardiomyocytes. Moreover, inhibition of ACh storage or atropine blunted the anti-hypertrophic action of cholinesterase inhibition. Altogether, our results show that cardiomyocytes possess functional cholinergic machinery that offsets deleterious effects of hyperadrenergic stimulation. In addition, we show that adrenergic stimulation upregulates expression levels of cholinergic components. We propose that this cardiomyocyte cholinergic signaling could amplify the protective effects of the parasympathetic nervous system in the heart and may counteract or partially neutralize hypertrophic adrenergic effects.     

Emotional contagion of dental fear to children: the fathers' mediating role in parental transfer of fear

International Journal of Paediatric Dentistry 2012; 22: 324–330 Background. Dental fear is considered to be one of the most frequent problems in paediatric dentistry. According to literature, parents’ levels of dental fear play a key role in the development of child’s dental anxiety. Hypothesis or Aim. We have tried to identify the presence of emotional transmission of dental fear among family members and to analyse the different roles that mothers and fathers might play concerning the contagion of dental fear to children. We have hypothesized a key role of the father in the transfer of dental fear from mother to child. Design. A questionnaire‐based survey (Children’s Fear Survey Schedule‐Dental Subscale) has been distributed among 183 schoolchildren and their parents in Madrid (Spain). Inferential statistical analyses, i.e. correlation and hierarchical multiple regression, were carried out and possible mediating effects between variables have been tested. Results. Our results support the hypothesis that family members’ levels of dental fear are significantly correlated, and they also allow us to affirm that fathers’ dental fear is a mediating variable in the relationship between mothers and children’s fear scores. Conclusions. Together with the presence of emotional transmission of dental fear among family members, we identified the relevant role that fathers play as regards the transfer of dental fear from parents to children.