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To investigate the familial correlations and intraclass correlation of age-related hearing impairment (ARHI) in specific frequencies. In addition, heritability estimates were calculated.

Floating‐Harbor syndrome is a rare syndrome of unknown etiology, which was first described in 1973. A triad of main features characterizes Floating‐Harbor syndrome: short stature, characteristic face, and an expressive speech delay. We present a patient in whom the hearing thresholds improved insufficiently after placement of grommets. High‐resolution CT scan of the temporal bone showed a prominent soft‐tissue thickening suspected of causing fixation of the malleus, and fusion of the malleus head with the body of the incus. To our knowledge this is the first reported abnormal middle ear anatomy in a patient with Floating‐Harbor syndrome. A conservative treatment with hearing aids was preferred as an initial treatment in favor of a surgical exploration. © 2009 Wiley‐Liss, Inc.

The common GJB2(Connexin 26) 35delG mutation might contribute to the development of age-related hearing impairment (ARHI) and noise-induced hearing loss (NIHL).

To study the progression of hearing impairment (HI) and audiological features in patients with the mitochondrial A to G mutation in the tRNALEU(RUU)gene at position 3,243 associated with maternally inherited diabetes and deafness.

C57L mice are susceptible and AKR mice are resistant to gallstone formation. We studied in male mice of both strains gallbladder histopathology, cholecystokinin-induced emptying, and concentrating function at 0, 14, 28, and 56 days on a lithogenic diet. Gallbladder wall thickness increased on the diet, with stromal granulocyte infiltration, progressive fibrosis, edema, and epithelial cell indentation, particularly in C57L. Strong basal cholecystokinin octapeptide-induced gallbladder emptying (70% of fasting volumes) occurred in both strains, but fasting gallbladder volumes were significantly larger in C57L (14.8 ± 2.2 µl vs. 8.8 ± 1.0 µl). On the diet, fasting volumes increased exclusively in C57L (28.6 ± 2.9 µl on day 56), with progressively decreased emptying (27% of fasting volumes on day 56). Gallbladder emptying remained normal in AKR. Gallbladder concentrating function decreased on the lithogenic diet (especially in C57L), coinciding with decreased aquaporin-1 (AQP1) and AQP8 expression at the mRNA and protein levels. In additional experiments, similar downregulation of AQP1 and AQP8 mRNA expression occurred in farnesoid X receptor (FXR)-deficient mice after 1 week on the lithogenic diet, without any difference from corresponding wild-type mice. In conclusion, during murine lithogenesis, altered gallbladder histology is associated with impaired motility, reduced concentrating function, and decreased AQP1 and AQP8 expression, the latter without the involvement of the FXR.

The goals of the present study were twofold: in the first part, the prevalence and profile of hearing disability in healthy, middle-aged persons were determined by the speech, spatial, and qualities of hearing scale (SSQ). In the second part of this study, the number of SSQ items was reduced to five to make this questionnaire available for routine usage in clinical settings and for screening purposes.