Head bobber: an insertional mutation causes inner ear defects, hyperactive circling, and deafness.

The head bobber transgenic mouse line, produced by pronuclear integration, exhibits repetitive head tilting, circling behavior, and severe hearing loss. Transmitted as an autosomal recessive trait, the homozygote has vestibular and cochlea inner ear defects. The space between the semicircular canals is enclosed within the otic capsule creating a vacuous chamber with remnants of the semicircular canals, associated cristae, and vestibular organs. A poorly developed stria vascularis and endolymphatic duct is likely the cause for Reissner's membrane to collapse post-natally onto the organ of Corti in the cochlea. Molecular analyses identified a single integration of ~3 tandemly repeated copies of the transgene, a short duplicated segment of chromosome X and a 648 kb deletion of chromosome 7(F3). The three known genes (Gpr26, Cpxm2, and Chst15) in the deleted region are conserved in mammals and expressed in the wild-type inner ear during vestibular and cochlea development but are absent in homozygous mutant ears. We propose that genes critical for inner ear patterning and differentiation are lost at the head bobber locus and are candidate genes for human deafness and vestibular disorders.

A comparison of primary and secondary rhytidectomy results.

BACKGROUND: This study aimed to evaluate the authors' surgical experience with secondary rhytidectomy and to compare these results with those for primary rhytidectomy patients. METHODS: A retrospective review of patients who had undergone secondary rhytidectomy was performed. In addition, an equivalent number of primary rhytidectomy patients were selected randomly. Data were collected evaluating patient age, time elapsed between rhytidectomies, type of procedure performed, superficial musculoaponeurotic system (SMAS) thickness, amount of skin resected, complications, adjunctive procedures, and patient satisfaction. RESULTS: This study enrolled 21 secondary rhytidectomy patients. The average time elapsed between their previous and last rhytidectomy was 9.95 years. Using a grading scale of -4 to 4, the average SMAS thickness was 2.2 for the primary and 0.67 for the secondary rhytidectomy patients. The average skin resection was 26.6 mm for the primary and 17.6 mm for the secondary rhytidectomy patients. The complications for secondary rhytidectomy included one hematoma and one hypertrophic postauricular scar. The follow-up period ranged from 6 months to 7 years. All secondary rhytidectomy patients expressed satisfaction with their overall aesthetic result. CONCLUSIONS: Secondary rhytidectomy is a safe and effective procedure for the aging face. The SMAS of older patients appears to be thinner and more delicate and therefore must be handled with care. Additionally, skin resection is significantly reduced compared with that for primary rhytidectomy patients.

Ecthyma gangrenosum: an unusual cutaneous manifestation of the head and neck.

Ecthyma gangrenosum (EG) is a recognized cutaneous infection commonly associated with Pseudomonas aeruginosa bacteremia. It typically occurs in patients who are septic and severely immunocompromised. Clinical presentation characteristically begins as an erythematous or hemorrhagic vesicle or bulla, which evolves into a necrotic ulcer with eschar and surrounding erythema. This was first described in association with Pseudomonas septicemia by Barker in 1897 and was later given the name "ecthyma gangrenosum" by Hitschmann and Kreibich.

Refining vertical lobule division in open septorhinoplasty.

OBJECTIVE: To review the indications, surgical techniques, and results of vertical lobule division (VLD) of the alar cartilages as they relate to the M-Arch Model. DESIGN: Retrospective study of patients who underwent VLD of the lower lateral cartilages at a private facial plastic surgery practice in a major university teaching hospital. RESULTS: Vertical lobule division decreased projection in 34 of 41 patients, narrowed a wide or boxy tip in 25, corrected knuckling or bossae in 20, corrected tip asymmetry in 14, corrected a hanging columella in 14, increased rotation in 12, and decreased rotation in 6. No statistically significant correlation was noted between the location of VLD and the indication for which it was performed. One patient required revision surgery to increase rotation. CONCLUSIONS: Vertical lobule division remains a reliable and safe technique with predictable outcomes in tip repositioning. It allows for preservation of a strong tip complex, while adding versatility to tip refinement.

Nasal tip dynamics.

In rhinoplasty, the nasal tip remains the most challenging anatomic region to diagnose and treat. This article presents a new concept, the M-arch model, to better understand the functional and aesthetic anatomy of the tip. This M-arch can be lengthened or shortened, or left as is, to establish the basis of ideal nasal length, projection, and rotation. Additional suture, incisional, excisional, and grafting maneuvers can be performed in a graduated fashion to further refine the M-arch, including the lobule and soft tissue of the nasal base. A full description of the M-arch model and its application is presented, and representative results are illustrated.

Helper-dependent adenovirus-mediated gene transfer into the adult mouse cochlea.

BACKGROUND: Gene therapy may provide a way to restore cochlear function to deaf patients. The most successful techniques for cochlear gene therapy have been injection of early-generation adenoviral vectors into scala media in guinea pigs. However, it is important to be able to perform gene therapy research in mice because there is wide availability of transgenic strains with hereditary hearing loss. PURPOSE: We demonstrate our technique for delivery of a third-generation adenoviral vector, helper-dependent adenovirus (HDAd), to the adult mouse cochlea. METHODS: Mice were injected with an HDAd that contained a reporter gene for either beta-galactosidase or green fluorescent protein into scala media. After 4 days, the cochleae were harvested for analyses. Auditory brainstem response monitoring of cochlear function was performed before making a cochleostomy, after making a cochleostomy, and before killing the animal. RESULTS: Beta-galactosidase was identified in the spiral ligament, the organ of Corti, and spiral ganglion cells by light microscopy. Green fluorescent protein epifluorescence was assessed in whole-mount organ of Corti preparations using confocal microscopy. This demonstrated transduction of inner hair cells, outer hair cells, and supporting cells. Paraffin-embedded cross sections similarly revealed gene transduction within the organ of Corti. Threshold shifts of 39.8 +/- 5.4 and 37.7 +/- 5.5 dB were observed in mice injected with HDAd or control buffer, respectively. CONCLUSION: The technique of scala media HDAd injection reliably infects the adult mouse cochlea, including cells within the organ of Corti, although the procedure itself adversely affects hearing.

HIV-associated facial lipoatrophy: establishment of a validated grading scale.

OBJECTIVE: HIV-associated lipodystrophy is considered a sequela of highly active antiretroviral treatment. We describe the characteristics, possible etiology, and pathophysiology of HIV-associated lipodystrophy and facial lipoatrophy and establish a validated grading scale for HIV-associated facial lipoatrophy using evidence-based techniques. DESIGN/METHODS: A grading scale was designed based on the severity of each patient's facial lipoatrophy. Preoperative photographs of HIV-infected patients seeking treatment for facial lipoatrophy and control subjects were reviewed by physicians qualified in facial plastic surgery. With use of the devised grading scale, each patient was assigned a severity score. These scores were then compared for interrater variability, and the distribution of scores was analyzed. RESULTS: Preoperative photographs of 39 HIV-infected individuals with facial lipoatrophy and 6 normal subjects were obtained and reviewed. All patients were males. A Cohen kappa of 0.73 was calculated, and there was a fairly equal distribution of all severity grades throughout the 39 patients. CONCLUSION: HIV-associated facial lipoatrophy is a major stigma for HIV patients that can have dramatic effects on their self-esteem, social habits, and medication compliance. This current study introduces a validated evidence-based grading scale that can be implemented to categorize disease severity. Using this scale will hopefully generate improved treatment plans directed to each patient, which should produce enhanced postoperative results.

Conservation laryngeal surgery versus total laryngectomy for radiation failure in laryngeal cancer.

BACKGROUND: Total laryngectomy is the standard of care for surgical salvage of radiation failure in laryngeal cancer. However, the role of conservation laryngeal surgery in this setting remains unclear. The objective was to compare the efficacy of conservation versus total laryngectomy for salvage of radiation failure in patients who initially presented with T1 or T2 squamous cancer of the larynx. METHODS: A 21-year retrospective analysis of patients who received surgery at a single comprehensive cancer center after definitive radiation therapy is reported. At recurrence, the patients were reevaluated and then underwent a total laryngectomy or, if possible, a conservation laryngeal procedure. The charts of 105 patients who failed radiation treatment for primary laryngeal cancer and who subsequently underwent surgical salvage were reviewed for this study. Eighty-nine were male (84.8%). The mean age was 60.3 years. The median follow-up time after surgery was 69.4 months. Most patients with recurrence after radiotherapy required total laryngectomy (69.5%; 73/105). Conservation laryngeal surgery was performed for 32 patients (31.5%). Concomitant neck dissections were performed on 45 patients (45.5%). RESULTS: In 14 patients, local or regional recurrence developed after salvage surgery: 9 patients after total laryngectomy (12.3%; 9/73), and 5 patients (15.6%; 5/32) after conservation laryngeal surgery. This difference was not statistically significant, nor was there a difference in disease-free interval for the two procedures (p = .634, by log-rank test). Distant metastasis developed in 13 patients. Most developed in the setting of local and/or regional recurrence, but distant metastasis occurred as the only site of failure in 6 of the patients who had undergone total laryngectomy but in 1 of the conservation surgery patients treated for a supraglottic laryngeal cancer. The overall mortality for patients who underwent total laryngectomy was also higher: 73.74% (54/73) versus 59.4% (19/32) for patients who underwent a conservation approach (p = .011 by log-rank test). CONCLUSIONS: Although conservation laryngeal surgery was possible in a few patients with local failure after radiotherapy, conservation laryngeal surgery is an oncologically sound alternative to total laryngectomy for these patients.