Pediatric cholesteatoma and variants in the gene encoding connexin 26

Objectives/Hypothesis:

Connexin 26 is a gap junction protein encoded by the GJB2 gene. It is expressed in cholesteatoma, and mutations cause proliferative skin disorders and sensorineural hearing loss (SNHL). Deletions of GJB6, which encodes connexin 30, cause SNHL in a digenic manner with a heterozygous GJB2 mutation. We hypothesize that GJB2 and GJB6 mutations might influence the development of cholesteatoma.

Study Design:

Prospective observational study to identify GJB mutations in pediatric cholesteatoma.

Methods:

Peripheral blood samples from 98 children with cholesteatoma were screened for mutations in the GJB2 gene by direct sequencing of the coding region (exon 2 and the intron/exon boundary). Deletions of the GJB6 gene were tested using multiple ligation probe amplification methods. GJB status was compared with other populations and patient age and extent of cholesteatoma at presentation.

Results:

Fourteen children had at least one GJB2 variant (14%). Of these, three had two variants. Two of the variants were neutral polymorphisms. One child with the GJB2 genotype 35delG/35delG also had SNHL. No correlation was found between GJB2 status and patient age or cholesteatoma severity at presentation. No GJB6 deletions were found.

Conclusions:

GJB2 gene variants are present in a minority of children with cholesteatoma, but may be more common than in normal populations. It is conceivable that alterations of connexin 26 expression could contribute to the multifactorial disease process in cholesteatoma by modifying the cell‐to‐cell communication that is important in proliferation and migration of keratinocytes. Laryngoscope, 2010     

Effect of estrogen therapy for 1 year on thyroid volume and thyroid nodules in postmenopausal women

OBJECTIVE: Estrogen receptors are present in thyroid follicular cells in normal and neoplastic tissue. We evaluated changes in total thyroid volume and volume of thyroid nodules in postmenopausal women given either hormone therapy (HT) or no treatment in a 1-year observational follow-up. DESIGN: We studied 33 women receiving HT and 76 women receiving no treatment, comparing total thyroid volume, thyroid nodule volume, and serum concentrations of thyroid-stimulating hormone and estradiol at baseline and 1 year of follow-up. RESULTS: Serum thyroid-stimulating hormone concentrations were not different between groups either at baseline or at 1 year. Estradiol rose significantly in the HT group. The final percent changes in total thyroid volume were comparable between groups (HT, 1.59 +/- 2.56%; no treatment, 1.20 +/- 2.28%). At baseline, nodules were detected in 17 (51.5%) and 33 (43.4%) of women in the HT and no treatment groups, respectively, with no statistically significant difference between groups. The final number of nodules was unchanged or reduced in 88.2% and 81.1% and increased in 11.8% and 18.9% of women in the HT and no treatment groups, respectively, with no differences between groups. Baseline volumes of thyroid nodules were 0.8 +/- 0.4 and 1.4 +/- 0.4 mL in women in the HT and no treatment groups, respectively (P = 0.4). After 1 year the volume of thyroid nodules was unchanged or reduced in 47.1% and 52.8% and increased in 52.9% and 47.2% of women in the HT and no treatment groups, respectively, with no differences between groups. CONCLUSIONS: Estrogen administration for 1 year did not affect thyroid volume or the number and volume of thyroid nodules in postmenopausal women.     

Entrapped coronary angioplasty stent balloon due to nondeflation: Percutaneous retrieval by a simple technique

Complication due to hardware failure may happen even in the most straightforward interventional procedures. We report an unusual complication of nondeflation of coronary stent balloon entrapped within the coronary tree. The nondeflated balloon was retrieved percutaneously by a simple technique. © 2010 Wiley‐Liss, Inc.