bromochloroacetic-acid and Hearing-Loss--Sensorineural

Pili torti is an extremely rare hair phenotype characterized by short length of hairs with hair shafts being easily broken. However, the mechanism of fragility in pili torti is unclear. In this study, we examined the underlying morphological features responsible for pili torti formation using transmission electron microscopy (TEM). We used pili torti samples from a patient with Björnstad syndrome and normal hairs from a healthy subject as a comparison. The macroscopic morphological features of the samples agreed with the results of a previous study showing that pili torti is twisted, flattened, thin and with partial trichorrhexis. Young's modulus of the samples was lower than that of normal hairs. Because the cross-sectional area of the pili torti samples was also smaller than that of normal hairs, it was clarified that the tensile strength of pili torti is 2.1-times lower than that of normal hair. Assessment of morphological features by TEM showed that the cuticle layers of the samples had wavy shapes with different thicknesses. Additionally, the cortex in the samples showed loose keratin intermediate filaments (IF). Our results suggested that these abnormalities in pili torti had already occurred below the infundibulum. Thus, the weakness of pili torti in tensile strength is thought to result from loose IF because of dysformation of disulfide bonds.

Topics: ATPases Associated with Diverse Cellular Activities; Child, Preschool; Electron Transport Complex III; Female; Hair Diseases; Hair Follicle; Hearing Loss, Sensorineural; Humans; Infant; Intermediate Filaments; Keratins; Microscopy, Electron, Transmission; Mitochondrial Diseases; Mutation; Scalp

Topics: Epithelial Cells; Hearing Loss, Sensorineural; Humans; Keratins; Skin; Tympanic Membrane Perforation

Topics: Aged; Fistula; Hearing Loss, Sensorineural; Humans; Immunohistochemistry; Keratins; Labyrinth Diseases; Male; Ossicular Replacement; Otosclerosis; Oval Window, Ear; Rupture, Spontaneous; Saccule and Utricle

The surgical management of labyrinthine fistulas caused by cholesteatoma remains controversial. Forty cases (41 ears) of labyrinthine fistulas were reviewed. This represented 10% of our total series of cholesteatomas in adults and children (426 ears). Clinical presentation, extent of disease, results of fistula testing and audiometric studies, and radiographic findings were analyzed. A canal wall-down procedure was performed in all but one patient. Generally an attempt was made to completely remove the cholesteatoma, to graft the fistulous area, and to reconstruct the middle ear mechanism in one stage. The matrix was preserved in patients with large fistulas where the involved ear was the only hearing one, when the matrix was adherent to the underlying optic duct, and in selected elderly persons. Long-term followup did not reveal a significant difference in hearing, degree of vertigo, or incidence of recidivism when those patients in whom the matrix was removed were compared with those in whom the matrix was preserved. The importance of recognizing the presence of a labyrinthine fistula preoperatively is stressed, along with the need to be prepared for an unexpected fistula. Operative management is described.

Topics: Adolescent; Adult; Aged; Child; Cholesteatoma; Fistula; Hearing Loss, Conductive; Hearing Loss, Sensorineural; Humans; Keratins; Labyrinth Diseases; Mastoid; Middle Aged; Postoperative Complications; Recurrence; Retrospective Studies; Vertigo