Carlos Boccio

Cochlear implantation is safe and effective in patients with MYH9-related disease

BackgroundMYH9-related disease (MYH9-RD) is a rare syndromic disorder deriving from mutations in MYH9, the gene for the heavy chain of non-muscle myosin IIA. Patients present with congenital thrombocytopenia and giant platelets and have a variable risk of developing sensorineural deafness, kidney damage, presenile cataract, and liver abnormalities. Almost all MYH9-RD patients develop the hearing defect, which, in many individuals, progresses to severe to profound deafness with high impact on quality of life. These patients are potential candidates for cochlear implantation (CI), however, no consistent data are available about the risk to benefit ratio of CI in MYH9-RD. The only reported patient who received CI experienced perisurgery complications that have been attributed to concurrent platelet defects and/or MYH9 protein dysfunction.MethodsBy international co-operative study, we report the clinical outcome of 10 patients with MYH9-RD and severe to profound deafness who received a CI at 8 institutions.ResultsNine patients benefited from CI: in particular, eight of them obtained excellent performances with restoration of a practically normal hearing function and verbal communication abilities. One patient had a slightly worse performance that could be explained by the very long duration of severe deafness before CI. Finally, one patient did not significantly benefit from CI. No adverse events attributable to MYH9-RD syndrome were observed, in particular no perisurgery bleeding complications due to the platelet defects were seen. Patients’ perioperative management is described and discussed.ConclusionsCI is safe and effective in most patients with MYH9-RD and severe to profound deafness and should be offered to these subjects, possibly as soon as they develop the criteria for candidacy.

Obstrucción nasal congénita por estenosis de la apertura piriforme. Serie de casos

Nasal obstruction in neonates is a potentially fatal condition due to their exclusive nasal breathing. The main cause is inflammatory or infectious rhinitis. Congenital, neoplastic, traumatic or iatrogenic causes are less frequent. Choanal atresia is the most common congenital nasal anomaly. A less common etiology of congenital nasal obstruction is pyriform aperture stenosis. Suspicion might arise in any newborn with varying degrees of stridor and respiratory distress, associated with the difficulty of passing a probe through anterior nares. Diagnosis should be confirmed by a computed tomography of the craniofacial massif. The therapeutic approach will depend on the severity of symptoms. We describe our experience with 5 patients with this condition, treated surgically using a sub-labial approach, and followed by nasal stenting.

Linfoma de amígdala en niño con asimetría tonsilar. caso clínico

Tonsil malignancy is uncommon in children. Tonsillar asymmetry is usually secondary to a benign process, either inflammatory conditions, differences in the tonsillar fossa depth or anterior pillar asymmetry. However, it may indicate a serious underlying disorder such as lymphoma. Lymphoma is the most common childhood malignancy in the head and neck. Approximately, 15% of the cases affect the Waldeyers ring. The most common clinical manifestations of palatine tonsils lymphoma are unilateral tonsillar hypertrophy, alteration in the appearance of the mucosa and ipsilateral cervical lymphadenopathy. Early diagnosis and appropriate treatment are of great importance in the prognosis. We present a case of palatine tonsil lymphoma in a child with tonsillar asymmetry and we emphasize the importance of the examination of the oral cavity and the neck to identify suspicious alterations compatible with tonsillar lymphoma.

Differentiation of Human Mesenchymal Stem Cells to Otic Progenitor-like Cells

Objectives: Differentiate mesenchymal stem cells to otic progenitor-like cells. Methods: We isolated and cultured the stromal vascular fraction (SVF) of 3 samples of human adipose tissue. We differentiated human adipose stem cells (hASCs) to otic lineage, using a differentiation medium containing DMEM HG, F12, N2, B27 and different growth factors like FGF3, FGF10, EGF, and IGF-1. The differentiated cells were fixed and RNA extracted at day 10 and 38 to analyze the expression of otic progenitor, neuronal or inner ear hair cell markers. Results: After 10 days of differentiation we detected otic placode markers expression: Pax2 (90.9 ± 0.16%), Pax8 (44.2 ± 0.03%), and BMP7 (86.4 ± 0.24%). Brn3.c (24.2 ± 0.05%), MyoVIIa (10.8 ± 0.05%), and BIII tubulin (28.8 ± 0.37%) were also detected, consistent with the presence of progenitors of sensorineural and inner ear hair cells. At day 38, an increase of inner ear hair cell markers (33.2 ± 0.04% MyoVIIa, 33.9 ± 0.3% Brn3.c and 14.3% Math1), a decreased of otic progenitor markers (46.2% Pax2 and 15.9% Pax8) and absence of neural markers were seen. The same pattern was seen at mRNA level. Conclusions: Even though these results are preliminary and a protocol improvement is necessary, this work demonstrates the ability of hASCs to differentiate into otic lineage, opening a door to a future therapeutic option for sensorineural hearing loss.

P109: Hearing Restoration in Bilateral Endolymphatic Sac Tumor

records was performed to determine the location, nature, and etiology of the encephalocele. Other data collected include age, gender, presentation, imaging, procedures performed, complications, length of follow-up, and patient height and weight. Congenital or post-traumatic encephaloceles as well as those related to chronic otitis media or cholesteatoma were excluded. Body mass index (BMI) was calculated from the patient height and weight data. RESULTS: Twelve patients demonstrating spontaneous, idiopathic temporal bone encephalocele were identified. Each of these patients was found to have a calculated BMI of greater than 30. BMIs ranged from 32.0 to 67.5 with a mean of 48.6. CONCLUSIONS: Morbid obesity leads to benign intracranial hypertension, also known as pseudotumor cerebri. This phenomenon is associated with pulsatile tinnitus, hearing loss, aural pressure, and dizziness. We believe temporal bone encephalocele is an under-reported consequence of morbid obesity and should be considered in the differential diagnosis when evaluating mastoid and middle ear disease in the morbidly obese.

High-resolution CT and cochlear densitometry in otosclerosis

Abstract Problem: Otosclerosis is a primary local disease of the otic capsule that affects the enchondral layer of the human temporal bone. It develops in the oval window area in most of the cases followed by the round window niche and the inner ear. The aim of this study is to evaluate the sensitivity of high-resolution Computer Tomography (CT) and the cochlear densitometry in the diagnosis of otosclerosis. Methods: This is a prospective study conducted at the Hospital Italiano de Buenos Aires (Argentina) from August 2000 to November 2003. It includes all patients with suspected diagnosis of otosclerosis later confirmed at surgery having a CT scan and a cochlear densitometry performed previously to surgery. Results: Twenty-eight ears (24 patients, 15 females; mean age, 37 years) were studied. Thirteen ears had a mixed-type hearing loss, among them 11 had a pathologic CT and 9 had an abnormal densitometry profile. Fifteen ears had a conductive hearing loss; 8 of them presented CT and densitometric alterations. Conclusion: The diagnosis of otosclerosis is based on the clinical symptoms, individual family history, a complete audiological evaluation and confirmed during surgery. The CT cochlear densitometry sensitivity was of 60.7%. The high-resolution CT had a sensitivity of 68% in the otosclerosis diagnosis, which went up to 84% when the cochlea was affected. Significance: The high-resolution CT constitutes an objective approach to otosclerosis diagnosis, especially in those patients with cochlear affectation. Support: No grants or other support have been received for this research.