Methods: In a prospective study, the hearing of ninety seven congenitally cytomegalovirus-infected children, born between January 2003 and July 2009, was systematically evaluated until the age of six, applying the Flemish www.selleckchem.com/products/Thiazovivin.html CMV protocol. Depending on the age of the child, the protocol provides hearing evaluation by objective-, play- or conventional audiometry. Symptomatic children with hearing loss at birth were treated with ganciclovir, if parents consented.

Results: Seventy children had a pass on initial

screening, 27 had unilateral or bilateral hearing loss. Within the normal hearing group, one asymptomatic and two symptomatic children developed late-onset hearing loss. Within the group with hearing loss, 8 children received ganciclovir, while 8 symptomatic and 11 asymptomatic children did not receive ganciclovir. As for the treated group, 37.5% of the children had stable hearing loss, one child had progressive and

one child had fluctuating hearing Selleckchem PLX3397 loss. Improvement of hearing threshold occurred in 37.5% of the children. Among the untreated symptomatic children, hearing loss remained stable in 50%, while progression occurred in 37.5%. In the group of asymptomatic children with hearing loss, hearing loss was most commonly stable (72.7%).

Within the group of normal hearing ears at birth (n = 156), there is a significant better progression in pure tone average for ears of asymptomatic subjects in comparison to ears of symptomatic subjects (p <= 0.0001). As for the group of ears with hearing loss at birth (n = 38), analysis shows no evidence for a difference in pure tone average progression between the different groups (p = 0.38).

Conclusions: Cytomegalovirus infection may cause hearing loss, in both symptomatic and asymptomatic children. Our data show a significant difference, between both groups, in the progression of pure tone average of normal hearing ears at birth,

in favor of the asymptomatic children. This is not the case for ears with hearing loss at birth. However, this may be due to the small number of ears in this group. Our data show the tendency that treatment with ganciclovir increases the likelihood of improvement and reduces the likelihood of deterioration of the hearing. (C) 2010 Elsevier Ireland Ltd. All rights reserved.”
“Mutations ICG-001 inhibitor in the ectodysplasin-A (EDA) gene have been generally associated with X-linked hypohidrotic ectodermal dysplasia (XLHED). Recently, missense mutations in EDA have been reported to cause familial non-syndromic tooth agenesis. In this study, we report a novel EDA mutation in an Estonian family segregating non-syndromic tooth agenesis with variable expressivity. Affected individuals had no associated defects in other ectodermal organs. Using whole-exome sequencing, we identified a heterozygous nonsense mutation c.874G>T (p.Glu292X) in the TNF homology domain of EDA in all affected female patients.