Entity

Time filter

Source Type


Camuzard O.,Nice University Hospital Center | Rosello O.,Nice University Hospital Center | Maschi C.,Nice University Hospital Center | Castillo L.,Service dOrl et de Chirurgie Maxillo faciale | And 4 more authors.
Revue de Laryngologie Otologie Rhinologie | Year: 2011

Melanotic Neuroectodermal Tumor of Infancy (MNTI) is a rare but distinct neoplastic entity in infancy. Diagnosis is usually made before the age of 12 months. The common clinical presentation is a rapidly growing mass of the pre-maxillary area. Its surface is unevenly pigmented. To affirm the diagnosis a biopsy is necessary. Few cases of malignancy have been described (5% of cases). Adequate surgical excision is the treatment of choice. Recurrence rate is about 10 to 15% within 5 years. We report in this article the case of a newborn with MNTI illustrating that an R0 surgical excision can be correlated to a favourable prognosis. In this case the 5 years follow up didn't show any local or distant recurrence. Source


Kamal D.,Service dOrl et de Chirurgie Maxillo faciale | Froget N.,Center Hospitalier Lyon Sud | Breton P.,Center Hospitalier Lyon Sud | Beziat J.-L.,Service de Chirurgie Maxillo Faciale | Gleizal A.,Service de Chirurgie Maxillo Faciale
Revue de Stomatologie et de Chirurgie Maxillo-Faciale | Year: 2012

The main morphological sequels of zygomatic bone fractures are lack of zygomatic projection and enopthalmia. They may be corrected by zygomatic osteotomy which is a difficult operation because of modified anatomic landmarks. Onlay bone or alloplastic grafts are preferred. Technical note: Zygomatic osteotomies are performed through three surgical approaches: superior palpebral, sub-ciliary, and upper vestibular, followed by repositioning with osteosynthesis micro-plates. They allow reconstruction with an adequate projection in three dimensions. Surgery is usually associated with a bone graft of the orbital floor. Discussion: Zygomatic osteotomy is a simple, reproducible technique, but it requires a good bone exposure. The esthetic results are satisfactory with an uneventful outcome. This surgical procedure is a good alternative to isolated techniques of autologous bone grafting or alloplastic material reconstruction which have sometimes disappointing and short lasting results due to graft resorption. © 2012 Elsevier Masson SAS. All rights reserved. Source


Riahi Z.,Institute Pasteur Of Tunis | Riahi Z.,Tunis el Manar University | Hammami H.,Service dOrl et de Chirurgie Maxillo faciale | Ouragini H.,Institute Pasteur Of Tunis | And 12 more authors.
Gene | Year: 2013

Hearing loss is the most frequent sensory disorder. It affects 3 in 1000 newborns. It is genetically heterogeneous with 60 causally-related genes identified to date. Mutations in GJB2 gene account for half of all cases of non-syndromic deafness. The aim of this study was to determine the relative frequency of GJB2 allele variants in Tunisia. In this study, we screened 138 patients with congenital hearing loss belonging to 131 families originating from different parts of Tunisia for mutations in GJB2 gene. GJB2 mutations were found in 39% of families (51/131). The most common mutation was c.35delG accounting for 35% of all cases (46/131). The second most frequent mutation was p.E47X present in 3.8% of families. Four identified mutations in our cohort have not been reported in Tunisia; p.V37I, c.235delC, p.G130A and the splice site mutation IVS1+1G>A (0.76%). These previously described mutations were detected only in families originating from Northern and not from other geographical regions in Tunisia. In conclusion we have confirmed the high frequency of c.35delG in Tunisia which represents 85.4% of all GJB2 mutant alleles. We have also extended the mutational spectrum of GJB2 gene in Tunisia and revealed a more pronounced allelic heterogeneity in the North compared to the rest of the country. © 2013 Elsevier B.V. Source


Riahi Z.,Institute Pasteur Of Tunis | Riahi Z.,Tunis el Manar University | Zainine R.,Service dOrl et de Chirurgie Maxillo faciale | Mellouli Y.,Service dOrl et de Chirurgie Maxillo faciale | And 10 more authors.
International Journal of Pediatric Otorhinolaryngology | Year: 2013

Objectives: Mutations of GJB2 encoding connexin 26 are the most common cause of hearing loss. They are responsible for up to 50% of ARNSHL. The pathogenic mutations in this gene are generally inherited recessively. Dominant mutations in GJB2 also cause hearing loss, either in isolated non-syndromic form or as part of a syndrome associated with various skin disorders. Methods: We screened a Tunisian child affected by congenital, bilateral, profound, sensorineural hearing loss for mutations in GJB2 gene using PCR and direct sequencing. Results: The proband was found to be compound heterozygous for recessive and dominant GJB2 mutations respectively p.V37I (c.109G. >. A) and p.R143Q (c.428G. >. A). Surprisingly the hearing mother is a carrier for this dominant GJB2 mutation. This proband underwent a cochlear implant at four years old. The evaluation using APCEI and IT-MAIS tests at six months post implantation indicates a successful cochlear implant outcome since the deaf child began to acquire language abilities and auditory sensation. Conclusions: The p.R143Q mutation was described for the first time in Tunisia. We confirm the low penetrance of this mutation since the proband mother is a carrier despite her normal hearing. We show the effectiveness of cochlear implant to restore the communication abilities and auditory sensation for our patient. © 2013 Elsevier Ireland Ltd. Source


Riahi Z.,Institute Pasteur Of Tunis | Riahi Z.,Tunis el Manar University | Chahed H.,Service dOrl et de Chirurgie Maxillo faciale | Jaafoura H.,Service dOrl et de Chirurgie Maxillo faciale | And 13 more authors.
International Journal of Pediatric Otorhinolaryngology | Year: 2013

Objectives: Mutations in GJB2 are found to be responsible for 50% of congenital autosomal recessive non-syndromic hearing loss, one of the most important mutations in this gene is the c.35delG, which is responsible for the majority of GJB2 related deafness in the Tunisian population. The aim of this study was to determine the molecular etiology of hearing loss in two Tunisian individuals. Methods: We screened two Tunisian individuals affected by congenital, bilateral, profound, sensorineural hearing loss for mutations in GJB2 gene using PCR and direct sequencing. Results: We identified a novel frameshift mutation in the GJB2 gene, the c.405delC resulting in a truncated protein (p.Tyr136Thrfs*32). It was found in compound heterozygosity with the c.35delG in two non-consanguineous unrelated families from Tunisia. One patient underwent a cochlear implant at 4 years. Initial evaluations post-implantation indicate a successful cochlear implant outcome since the patient began to acquire language abilities and auditory sensation. Conclusions: With this novel GJB2 mutation, the mutational spectrum of this gene continues to broaden in our population. The occurrence of biallelic GJB2 mutations for the other deaf girl, despite the neonatal pain and hypotension due to complicated delivery, led us to confirm the importance of GJB2 screening for cochlear implant candidates regardless of the etiology of deafness in populations with a relatively high frequency of GJB2 mutation carriers. © 2013 Elsevier Ireland Ltd. Source

Discover hidden collaborations