TAS2R38 is a novel modifer gene in patients with cystic fbrosis

The clinical manifestation of cystic fbrosis (CF) is heterogeneous also in patients with the same cystic fbrosis transmembrane regulator (CFTR) genotype and in afected sibling pairs. Other genes, inherited independently of CFTR, may modulate the clinical manifestation and complications of patients with CF, including the severity of chronic sinonasal disease and the occurrence of chronic Pseudomonas aeruginosa colonization. The T2R38 gene encodes a taste receptor and recently its functionality was related to the occurrence of sinonasal diseases and upper respiratory infections. We assessed the T2R38 genotype in 210 patients with CF and in 95 controls, relating the genotype to the severity of sinonasal disease and to the occurrence of P. aeruginosa pulmonary colonization. The frequency of the PAV allele i.e., the allele associated with the high functionality of the T2R38 protein, was signifcantly lower in i) CF patients with nasal polyposis requiring surgery, especially in patients who developed the complication before 14 years of age; and ii) in CF patients with chronic pulmonary colonization by P. aeruginosa, especially in patients who were colonized before 14 years of age, than in control subjects. These data suggest a role for T2R38 as a novel modifer gene of sinonasal disease severity and of pulmonary P. aeruginosa colonization in patients with CF

Active shape correction of a thin glass/plastic X-ray mirror

Optics for future X-ray telescopes will be characterized by very large aperture and focal length, and will be made of lightweight materials like glass or plastic in order to keep the total mass within acceptable limits. Optics based on thin slumped glass foils are currently in use in the NuSTAR telescope and are being developed at various institutes like INAF/OAB, aiming at improving the angular resolution to a few arcsec HEW. Another possibility would be the use of thin plastic foils, being developed at SAO and the Palermo University. Even if relevant progresses in the achieved angular resolution were recently made, a viable possibility to further improve the mirror figure would be the application of piezoelectric actuators onto the non-optical side of the mirrors. In fact, thin mirrors are prone to deform, so they require a careful integration to avoid deformations and even correct forming errors. This however offers the possibility to actively correct the residual deformation. Even if other groups are already at work on this idea, we are pursuing the concept of active integration of thin glass or plastic foils with piezoelectric patches, fed by voltages driven by the feedback provided by X-rays, in intra-focal setup at the XACT facility at INAF/OAPA. In this work, we show the preliminary simulations and the first steps taken in this project

Carcinoma mucoepidermoide della base della lingua

Mucoepidermoid carcinoma (MEC) is the most common malignant, locally-invasive tumour of the salivary glands, and accounts for approximately 35% of all malignancies of the major and minor salivary gland. Minor salivary glands are scattered in different areas of the oral cavity such as palate, retromolar area, floor of the mouth, buccal mucosa, lips and tongue. MECs of tongue base are not common. We present a rare case of MEC localised at the tongue base in a 42-year-old Caucasian woman and discuss the histopathological types, management and review the literature. Adequate intra-oral excision was the treatment of choice in this case and in low-grade MEC. Prognosis of MEC is a function of the histological grade, adequacy of excision and clinical staging. © 2015, Pacini Editore s.r.l. All rights reserved

MANAGEMENT DELLO SCHWANNOMA INTRALABIRINTICO

Lo schwannoma intralabirintico (SIL) è un raro tumore benigno (prevalenza 0.1-0.4%) che origina dalle cellule di Schwann perineurali del nervo cocleovestibolare prossimale al labirinto membranoso (coclea, vestibolo o canali semicircolari). E’ stato descritto per la prima volta da Meter nel 1917. I sintomi clinici di esordio includono ipoacusia neurosensoriale monolaterale progressiva (95%) e in alcuni casi improvvisa o fluttuante, acufeni (51%), disequilibrio (35%), vertigine (22%), fullness (2%). Alla risonanza magnetica (RM) il tumore si presenta come una massa circoscritta, ipointensa nelle sequenze T2-pesate e con un forte enhancement dopo somministrazione di gadolinio nelle immagini T1-pesate. Lo SIL si pone in diagnosi differenziale con M. di Meniere o neurite vestibolare. La mancanza di sintomi specifici e il lento pattern di crescita spiega la diagnosi tardiva. Oggigiorno la RM permette una diagnosi sempre più precoce e l’ adozione di un appropriato protocollo terapeutico

Cholesteatoma vs granulation tissue: a differential diagnosis by DWI-MRI apparent diffusion coefficient

To diagnose cholesteatoma when it is not visible through tympanic perforation, imaging techniques are necessary. Recently, the combination of computed tomography and magnetic resonance imaging has proven effective to diagnose middle ear cholesteatoma. In particular, diffusion weighted images have integrated the conventional imaging for the qualitative assessment of cholesteatoma. Accordingly, the aim of this study was to obtain a quantitative analysis of cholesteatoma calculating the apparent diffusion coefficient value. So, we investigated whether it could differentiate cholesteatoma from other inflammatory tissues both in a preoperative and in a postoperative study

INQUADRAMENTO CLINICO E MANAGEMENT DELLO SCHWANNOMA ESCLUSIVAMENTE INTRALABIRINTICO

Lo schwannoma intralabirintico (SIL) è un raro tumore benigno (prevalenza 0.1-0.4%) che origina dalle cellule di Schwann situate a ridosso della giunzione cito-neurale dell’VIII n.c. I sintomi clinici includono ipoacusia neurosensoriale monolaterale progressiva (95%), acufeni (51%), disequilibrio (35%), vertigine (22%), fullness (2%). Alla risonanza magnetica (RM) il tumore si presenta come una massa circoscritta, iperintensa in T1, ipointensa in T2 e con enhancement dopo gadolinio nelle immagini T1-pesate. Il management prevede in prima istanza osservazioni seriali con RM “wait and scan approach”. La chirurgia, considerando le complicanze descritte quali anacusia (100%), paralisi VII n.c. (4%), fistola liquorale (5.4%), meningite (1.8%), è riservata a casi limitati e dipende da: età, condizioni generali del paziente, sede e dimensioni del tumore ed è consigliabile in caso di un pattern di crescita invasivo e presenza di sintomi vertiginosi non responsivi al trattamento medico

Skull Base Fungal Osteomyelitis: A Case Report and Review of the Literature

Skull base osteomyelitis (SBO) is an invasive infection refractory to therapy, closely linked with malignant otitis externa (MOE). It is characterized by a mild clinical presentation that can delay cross-sectional imaging considered as the key to revealing it. Skull base osteomyelitis typically affects elderly diabetics and immunocompromised patients (>70 years). It most commonly has an otogenic origin due to an extension of MOE. The prognosis can be very poor without the administration of adequate and timely therapy at an early disease stage. Nowadays, Pseudomonas aeruginosa remains the most common pathogen associated with SBO. Fungi are a rare cause of MOE. This report documents a rare case of otogenic SBO caused by Candida parapsilosis in a diabetic patient, with persistent otologic symptoms as clinical onset and resistance to medical treatment. Fungal MOE has more subtle symptoms and is more aggressive than its bacterial counterpart. When MOE is resistant to antibacterial drugs, this should raise the suspicion of a fungal etiology of MOE. The current guidelines do not exhaustively describe the diagnosis, antifungal drugs of choice, and optimum duration of treatment. The description of these rare clinical cases should help with the multidisciplinary management of this disease in order to optimize the diagnosis and therapeutic protocol