The expression of bitter taste receptor TAS2R38 in patients with chronic rhinosinusitis.

Chronic rhinosinusitis (CRS) is a frequent disease with high social impact and multifactorial pathogenesis. Recently, the bitter taste receptor TAS2R38 has been described to play a role in upper airway innate mucosal defense. The aim was to determine the localization and expression of the TAS2R38 in the selected cell lines and tissue collected from patient suffered from CRS as well as to correlate the results with clinical data. Moreover, the purpose was the estimation of the TAS2R38 distribution changes during acute and CRS. Forty-two patients undergoing nasal surgery were enrolled in the study. The TAS2R38 expression was assessed in the collected tissues using immunohistochemistry and immunocytochemistry methods. The western blot analysis was performed on human cell lines HeLa, MCF7, MDA-MB-231 to assess the location of the TAS2R38 protein. Moreover, the HeLa cell line was used as a model of acute inflammation induces by lipopolysaccharide. Immunohistochemistry analysis displayed a statistically significant difference of TAS2R38 level in the patients with CRS compared to healthy control and was different in CRS with and without nasal polyps. The results showed the abundance of TAS2R38 receptor in the cell nucleus in patients with CRS and cell lines. The variance in TAS2R38 receptor expression in two CRS types suggests their different pathogenesis. The first time in literature, we confirmed the presence of plasma membrane TAS2R38 receptor in the cell nuclei in CRS as well as in cell lines, what strongly suggests the different than membrane TAS2R38 function.

Marcus Gunn (jaw-winking) phenomenon in pediatric otorhinolaryngology practice.

Marcus Gunn phenomenon (MGP) is a rare form of congenital facial synkinesis known as jaw-winking or pterygoid-levator synkinesis. The MGP is the raising of the affected eyelid is synchronous and proportionate to the opening of the mouth. The etiology is unclear. Most authors claim that a branch of trigeminal nerve has been congenitally misdirected into position of the oculomotor nerve which supplies the levator muscle of the upper lid. The MGP deals with number of problems which have to be manage by ENT doctors, but they are not well­documented. We describe the first time Marcus Gunn phenomenon associated with an olfactory nerve disturbance. We have especially emphasized laryngological aspect of MGP diagnosis and the need for deeper interdisciplinary diagnostics in each child with olfactory dysfunction.

Kallmann syndrome in pediatric otorhinolaryngology practice - Case report and literature review.

BACKGROUND: Kallmann syndrome (KS) is an isolated form of hypogonadotrophic hypogonadism (HH) in combination with a defect in olfactory function. The diagnosis of KS before maturation is often difficult to make due to the broad spectrum of presentation and genetic heterogeneities. ENT examination including smell test is essential for proper diagnosis of olfactory disturbances and non olfactory abnormalities in craniofacial region which may also be existent in KS. CASE: A 17-year-old girl admitted to ENT Department because of the olfactory sense disturbances since two years. The patient reported also amenorrhea caused by primary HH. A diagnostic work-up using double-checked Sniffin' Sticks test and 6-items olfactory test confirmed serious hyposmia and identified the presence of KS. CONCLUSION: Usually anosmia is not recognized by the affected individuals, so it is recommended to perform olfactory screening tests and obligatory ENT examination in the event of a HH even when patient reports a normal sense of smell. It leads to early diagnosis of KS and will benefit the relevant patient care.The KS diagnosis should be done at an early stage, but symptoms and clinical manifestations are not always evident both in ENT and pediatric field. In this article we would like to highlight the need for a multidisciplinary assessment and awareness for KS symptoms in pediatric practice as a hole.