Malek Mnejja

Association of COL1A1 and TGFB1 polymorphisms with otosclerosis in a Tunisian population.

Otosclerosis is a condition characterized by an abnormal bone metabolism in the otic capsule, resulting in conductive and/or sensorineural hearing loss. Otosclerosis is a common disorder in which genes play an important role. Case‐control association studies have implicated several genes in the abnormal bone metabolism associated with otosclerosis: COL1A1, TGFB1, BMP2, and BMP4. To investigate the association of these genes with otosclerosis in the Tunisian population, we examined nine single nucleotide polymorphisms (SNPs) in 159 unrelated otosclerosis patients and 155 unrelated controls. We found an association of rs11327935 in COL1A1 with otosclerosis that was shown to be sex specific. The coding polymorphism T263I in TGFB1 was also associated with otosclerosis in the Tunisian population. The effect sizes of both the associations were consistent with previous studies, as the same effect was found in all cases. The association of BMP2 and BMP4 was not significant. However, a trend towards association was found for the BMP4 gene that was consistent with earlier reports. In conclusion, this study replicates and strengthens the evidence for association between polymorphisms of COL1A1 and TGFB1 in the genetic aetiology of otosclerosis.

Kyste thymique: étiologie rare d’un kyste cervical de l’adulte

Pan African Medical Journal. 2017; 28:136 doi:10.11604/pamj.2017.28.136.12493 This article is available online at: http://www.panafrican-med-journal.com/content/article/28/136/full

Intratympanic Corticosteroid for Neurosensorial Hearing Loss Treatment

Neurosensorial hearing loss therapy to date has consisted mostly of the systemic administration of steroids and has been limited by their side effects and low therapeutic concentrations within the fluids and tissues of the inner ear. It has been shown in animals and humans that systemically applied glucocorticoids reach only low drug concentrations in the perilymph. The local application of drugs to treat inner ear diseases is expected to provide advantages as compared with systemic treatments, namely: 1) bypassing the bloodlabyrinthine barrier, 2) resulting in higher concentrations in the inner ear fluids 3) avoiding major unwanted effects of systemically administered medications.

Localized ENT Amyloidosis – Literature Overview

Amyloidoses from a group of disorders characterized by extracellular tissue accumulation of amorphous hyaline material. They are categorized in two main forms: systemic and localized (Zhuang YL, 2005). Localized forms involve a single organ, whereas systemic amyloidosis involves multiple organ systems. Localized forms often involve the head and neck. The aerodigestive tract is a common location, the nasopharynx or soft palate are rarely envaded (Panda NK, 2007) (Pitkaranta A, 2000). The distinction between localized and systemic disease is important because localized amyloidosis can be managed conservatively with an excellent prognosis, whereas systemic amyloidosis is associated with significant morbidity and mortality (Kyle RA, 1975). Although the pathogenesis is not completely understood, soluble protein subunits undergo a conformational change to become insoluble and aggregate in an antiparallel β-pleated sheet conformation (Panda NK, 2007). The diagnosis of amyloidosis is made based on Congo red staining on tissue biopsy which leads to apple-green birefringence on polarized microscopy (Patel A, 2002). Amyloidomas are benign tumorlike lesions consisting of localized deposits of amyloid and are the rarest form in the group of amyloidosis-related lesions (Parmar H, 2010). Amyloidosis should not be considered as a single clinical entity, but rather as a nonhomogeneous group of diseases characterized by the common presence of a fibrillar structure of linear, aggregated fibers with a cross β-pleated sheet conformation, and evidenced by x-ray diffraction. In primary amyloidosis, a monoclonal population of marrow cells produces either fragments of light chains that may be processed to form amyloid. Secondary amyloidosis is characterized by a defect in the metabolism of the precursor protein (Comenzo RL, 2006). Our objective is to study the epidemioloclinical characteristics of ENT amyloidosis and the management of those localizations.