The “maternal effect” on epilepsy risk: Analysis of familial epilepsies and reassessment of prior evidence

Objective: Previous studies have observed that epilepsy risk is higher among offspring of affected women thanoffspring of affected men. We tested whether this “maternal effect” was present in familial epilepsies, which areenriched for genetic factors that contribute to epilepsy risk.Methods: We assessed evidence of a maternal effect in a cohort of families containing ≥3 persons with epilepsyusing three methods: (1) “downward-looking” analysis, comparing the rate of epilepsy in offspring of affectedwomen versus men; (2) “upward-looking” analysis, comparing the rate of the epilepsy among mothers versusfathers of affected individuals; (3) lineage analysis, comparing the the proportion of affected individuals withfamily history of epilepsy on the maternal versus paternal side.Results: Downward-looking analysis revealed no difference in epilepsy rates among offspring of affectedmothers versus fathers (prevalence ratio 1.0, 95% CI 0.8, 1.2). Upward-looking analysis revealed more affectedmothers than affected fathers; this effect was similar for affected and unaffected sibships (odds ratio 0.8, 95%CI 0.5, 1.2) and was explained by a combination of differential fertility and participation rates. Lineage analysisrevealed no significant difference in the likelihood of maternal versus paternal family history of epilepsy.Interpretation: We found no evidence of a maternal effect on epilepsy risk in this familial epilepsy cohort.Confounding sex imbalances can create the appearance of a maternal effect in upward-looking analyses andmay have impacted prior studies. We discuss possible explanations for the lack of evidence, in familialepilepsies, of the maternal effect observed in population-based studie

Otodental syndrome

The otodental syndrome also named otodental dysplasia, is characterised by a striking dental phenotype known as globodontia, associated with sensorineural high frequency hearing loss and eye coloboma. Globodontia occurs in both primary and permanent dentition, affecting canine and molar teeth (i.e. enlarged bulbous malformed posterior teeth with almost no discernable cusps or grooves). The condition appears to be inherited in an autosomal dominant mode, although sporadic cases have been reported. It is a rare disease, a few families have been described in the literature. In the British family, the locus for oculo-oto-dental syndrome was mapped to 20q13.1 within a 12-cM critical chromosomal region. Dental management is complex, interdisciplinary and will include regular follow up, scheduled teeth extraction and orthodontic treatment. Hearing checks and, if necessary, hearing aids are mandatory, as well as eye examination and ad hoc treatment if necessary

Ecological conditions, flora and vegetation of a large doline in the Mecsek Mountains (South Hungary)

Vegetation-environment relationships were investigated in a large doline of the Mecsek Mts (South Hungary). To reveal the vegetation pattern, we collected vegetation data and environmental variables along a 243 m long transect. Atotal of 144 vascular plant species and 4 vegetation types were identified in the doline.We found that both the species composition and the vegetation pattern are significantly influenced by air temperature, air humidity, soil moisture and altitude. Our results confirm the putative temperature and vegetation inversion in the doline

Consensus Report : 2nd European Workshop on Tobacco Use Prevention and Cessation for Oral Health Professionals

Tobacco use has been identified as a major risk factor for oral disorders such as cancer and periodontal disease. Tobacco use cessation (TUC) is associated with the potential for reversal of precancer, enhanced outcomes following periodontal treatment, and better periodontal status compared to patients who continue to smoke. Consequently, helping tobacco users to quit has become a part of both the responsibility of oral health professionals and the general practice of dentistry. TUC should consist of behavioural support, and if accompanied by pharmacotherapy, is more likely to be successful. It is widely accepted that appropriate compensation of TUC counselling would give oral health professionals greater incentives to provide these measures. Therefore, TUC-related compensation should be made accessible to all dental professionals and be in appropriate relation to other therapeutic interventions. International and national associations for oral health professionals are urged to act as advocates to promote population, community and individual initiatives in support of tobacco use prevention and cessation (TUPAC) counselling, including integration in undergraduate and graduate dental curricula. In order to facilitate the adoption of TUPAC strategies by oral health professionals, we propose a level of care model which includes 1) basic care: brief interventions for all patients in the dental practice to identify tobacco users, assess readiness to quit, and request permission to re-address at a subsequent visit, 2) intermediate care: interventions consisting of (brief) motivational interviewing sessions to build on readiness to quit, enlist resources to support change, and to include cessation medications, and 3) advanced care: intensive interventions to develop a detailed quit plan including the use of suitable pharmacotherapy. To ensure that the delivery of effective TUC becomes part of standard care, continuing education courses and updates should be implemented and offered to all oral health professionals on a regular basis