Genetic evidence for a role of IL33 in nasal polyposis.

BACKGROUND: Little is known about the genetic factors that contribute to nasal polyposis (NP). A genome-wide association study identified 10 single nucleotide polymorphisms (SNPs) associated with eosinophilia. As eosinophils play a key role in the pathogenesis of NP, we assessed if any of these SNPs contribute to genetic susceptibility of NP. METHODS: We recruited 284 patients with NP in four participating hospitals in Belgium and 427 healthy controls, and genotyped 10 SNPs affecting eosinophilia (rs1420101 in IL1RL1, rs12619285 in IKZF2, rs4431128 in GATA2, rs4143832 in IL5, rs3184504 in SH2B3, rs2416257 in WDR36, rs2269426 in MHC, rs9494145 in MYB, rs748065 in GFRA2, and rs3939286 in IL33) using MALDI-TOF. A two-stage design was used while correcting for multiple testing. RESULTS: First stage analysis, involving 150 NP patients and 250 controls, identified rs3939286 nearby IL33 as a susceptibility factor for NP. Per at-risk A-allele, rs3939286 increased the risk for NP with an odds ratio (OR) of 1.60 (95% CI = 1.16-2.22; P = 0.0041). Second stage replication analysis in another 123 NP patients and 165 controls confirmed this association (OR = 1.43; CI = 1.00-2.06; P = 0.046). The combined analysis of both stages revealed an OR of 1.53 (CI = 1.21-1.96; P = 0.00041). Given the association of IL33 with NP, we also investigated rs1420101 in IL1RL1, which is the receptor for IL33. Although rs1420101 itself failed to associate with NP, a combined risk assessment of rs3939286 and rs1420101 further increased the risk for NP. CONCLUSION: We provide unprecedented genetic evidence suggesting a role for the IL33 pathway in the pathogenesis of NP.

A Pott's puffy tumour as a late complication of a frontal sinus reconstruction: case report and literature review.

A Pott's Puffy Tumour (PPT) is a rare clinical entity, which, traditionally has been described as an acute abscess with periosteitis secondary to osteomyelitis of the external table of the frontal bone of the skull, complicating an acute frontal sinusitis. The aim of this article is to present a case of progressively evolving PPT, which emerged during the course of a common rhinitis, in a patient who, thirty years previously, had undergone a reconstruction of the frontal sinus involving osteosynthesis. The patient was treated with antibiotic therapy coupled with external access surgery using the Cairn Unterberger approach. This allowed the drainage of pus, the removal of infected osteosynthetic material and a complete debridement of osteomyelitic bone from the affected area. Frontal sinus obliteration was undertaken using methyl methacrylate, preferable in this case to hydroxyapatite, due to the direct communication with the neighbouring sinus cavities and the presence of defective bone in the superior orbit. A review of literature available on Medline up to January 2008 reveals that this is the third published case of PPT complicating a frontal reconstruction.

Post-traumatic olfactory dysfunction: a cohort study and update.

OBJECTIVES: Post-traumatic olfactory loss (PTOL) is the third most common aetiology for olfactory disorders. Mechanisms that lead to post-traumatic olfactory disorders include sinonasal affections, damage to the olfactory nerve and lesions of the cerebral olfactory centres. The purpose of this review is to present an update of this condition and to present a cohort study of 90 patients. METHODOLOGY: A review of the literature was made on Medline Pubmed up to May 2009 and a review was also conducted of patients with post-traumatic olfactory loss. RESULTS: The degree of olfactory impairment was related to the severity of head trauma and was particularly frequent in cases of occipital impact. Typically, patients experienced a sudden onset of olfactory symptoms and were more severely affected than in other aetiologies. Results from orthonasal and retronasal testing, chemosensory event-related potentials and olfactory bulb (OB) volume confirmed previous findings: patients are usually anosmic, OB volume correlates with the degree of olfactory loss (better correlation with retronasal scores than with orthonasal scores) and olfactory event-related potentials were recorded in only 18 patients. CONCLUSIONS: Accuracy in the evaluation of PTOL patients is based on the expertise and the time spent by the clinician on defining the complaint. Failing treatment, complete evaluation of the PTOL patients may help in counselling for the recovery prognosis, and appropriate counselling must be given to secure the environment and alimentation.

Fungus-like sinusitis.

Fungus-like sinusitis is also called eosinophilic mucin rhinosinusitis (EMRS). This terminology is purely descriptive and refers to a rhinosinusitis, whose clinical presentation and imaging are similar to those of a noninvasive fungal sinusitis but in which fungus could not be demonstrated pathologically using the conventional silver staining technique or on culture. The authors report 2 clinical cases and recall the diagnostic criteria for the different forms of fungal sinusitis in immunocompetent patients.

Brown tumour: presenting symptom of primary hyperparathyroidism.

The skeletal lesions of primary hyperparathyroidism, including brown tumour, are rare nowadays, with the practice of checking serum calcium levels leading to an earlier diagnosis of hyperparathyroidism. Clinical, laboratory, radiographic and histological investigations can lead to a correct diagnosis. Treatment of brown tumour focuses on the hyperparathyroidism, and is usually followed by a regression of the brown tumour. The diagnosis of hyperparathyroidism and brown tumour should be considered in patients with hypercalcaemia and an osteolytic expansive bone lesion. We present a patient where a brown tumour of the mandible was the presenting symptom of primary hyperparathyroidism.

[Adolescence and cochlear implant]. / Adolescence et implant cochléaire.

During adolescence, the identity is constructed and the communication changes. The cochlear implant may disturb the identity's construction. The restrictions and advantages may be misunderstood due to the communication difficulties. It is important to take time to discuss and explain the limits of this hearing aid. It must not be perceived as a miracle resolving all auditory and oral communication problems. The hearing aid is effective for motivated and informed adolescents. The outcome depends on the level of auditory experience and oral language development before implantation. It can be very positive. (full article translated in English available on www.ent-review.com).