“SINDROME DI BECHET, CELIACHIA E DIABETE MELLITO DI I TIPO”: ....RARO CASO A TIPIZZAZIONE ANOMALA

La malattia di Behcet è una malattia rara, a genesi autoimmune, multifattoriale ad esordio tra la seconda e la terza decade di vita, a più elevata incidenza nei cosiddetti territori della via della seta (Medio Oriente) oltre che, nel Bacino del Mediterraneo. In Europa la prevalenza è 1:500.000 con maggiore incidenza nel sesso femminile. Clinicamente è caratterizzata da lesioni ulcerose ricorrenti del cavo orale che si accompagnano a ulcere genitali o lesioni cutanee, oculari o Pathergy Test positivo . Il "Behcet's Disease International Study Group" ha identificato nella presenza di ulcere del cavo orale associate a due delle lesioni sovracitate la diagnosi clinica di malattia di Behcet. Nel 60-70% dei casi è descritta un’associazione con il fenotipo HLA-B51. Nonostante si tratti di patologia su base autoimmunitaria, difficilmente si associa ad altre manifestazioni cliniche quali Morbo celiaco, Diabete, Crohn et al. Gli autori descrivono un caso clinico di una ragazza di 24 anni già affetta da diabete mellito e celiachia, giunta alla nostra osservazione per lesioni ulcero-necrotiche a carico della tonsilla palatina di sinistra, da circa 20 giorni. L’ipotesi diagnostica iniziale di malattia di Behcet era stata scartata per l'assenza di sintomi o segni associati, nonchè per la tipizzazione del sistema HLA risultata positiva per l’MHC-II B-63. La consulenza reumatologica confermava una diagnosi di morbo celiaco poiché le manifestazioni orali risultavano compatibili con una fase evolutiva dello stesso (positività nel 25% dei pazienti con morbo celiaco). La progressione dei fenomeni ulcerotici a carico della tonsilla omolaterale e la comparsa di manifestazioni analoghe a carico della tonsilla controlaterale, in una fase di apparente quiescenza di celiachia, ha indotto gli autori ad ipotizzare la presenza di una Malattia di Behcet, sebbene questa si associ ad altre malattie autoimmuni solamente nel 2-4% dei casi. Esclusivamente la biopsia escissionale e la comparsa a distanza di mesi, di lesioni genitali, ha permesso di porre diagnosi di certezza di una rara associazione, la quarta ad oggi descritta in letteratura, di Diabete Mellito di I tipo, Malattia Celiaca e Morbo di Behcet a tipizzazione atipica

Born effective charges and vibrational spectra in super and bad conducting metals

Interactions mediated by electron-phonon coupling are responsible for important cooperative phenomena in metals such as superconductivity and charge-density waves. The same interaction mechanisms produce strong collision rates in the normal phase of correlated metals, causing sizeable reductions of the dc conductivity and reflectivity. As a consequence, low-energy excitations like phonons, which are crucial for materials characterization, become visible in optical infrared spectra. A quantitative assessment of vibrational resonances requires the evaluation of dynamical Born effective charges, which quantify the coupling between macroscopic electric fields and lattice deformations. We show that the Born effective charges of metals crucially depend on the collision regime of conducting electrons. In particular, we describe, within a first principles framework, the impact of electron scattering on the infrared vibrational resonances, from the undamped, collisionless regime to the overdamped, collision-dominated limit. Our approach enables the interpretation of vibrational reflectance measurements of both super and bad conducting metals, as we illustrate for the case of strongly electron-phonon coupled superhydride H$_3$S

Treatment of bilateral vocal cord paralysis following permanent recurrent laryngeal nerve injury

Bilateral vocal cord paralysis is a serious illness requiring emergency intervention to resolve the potentially life-threatening respiratory distress. Several surgical procedures were proposed to help improve the airway and to eliminate the tracheostoma in those patients with permanent paralysis. All the procedures have their own advantages and disadvantages. We conducted a retrospective study of 30 patients affected by bilateral vocal cord paralysis following total thyroidectomy. All the patients underwent total thyroidectomy for benign thyroid pathology. In 26 patients (86.6%), cord paralysis occurred during the perioperative stage; and in the remaining 4 cases (13.3%), it occurred within the following 6 months. We treated all these bilateral recurrent laryngeal nerve paralysis patients with arytenoidectomy alone in 5 patients and arytenoidectomy with concomitant true and false posterior cordectomy in the remaining 25 patients. Twenty-four of the 25 patients who underwent the combined procedures (96%) reported subjective respiratory improvement and were decannulated within 60 days, being able to return to their normal daily activities. This study demonstrates that arytenoidectomy associated with posterior cordectomy is a satisfactory surgical treatment of bilateral vocal cord paralysis because it leads to a considerable and stable enlargement of the breathing space

Implementation of Robust Satellite Techniques for Volcanoes on ASTER Data under the Google Earth Engine Platform

The RST (Robust Satellite Techniques) approach is a multi-temporal scheme of satellite data analysis widely used to investigate and monitor thermal volcanic activity from space through high temporal resolution data from sensors such as the Moderate Resolution Imaging Spectroradiometer (MODIS), and the Spinning Enhanced Visible and Infrared Imager (SEVIRI). In this work, we present the results of the preliminary RST algorithm implementation to thermal infrared (TIR) data, at 90 m spatial resolution, from the Advanced Spaceborne Thermal Emission and Reflection Radiometer (ASTER). Results achieved under the Google Earth Engine (GEE) environment, by analyzing 20 years of satellite observations over three active volcanoes (i.e., Etna, Shishaldin and Shinmoedake) located in different geographic areas, show that the RST-based system, hereafter named RASTer, detected a higher (around 25% more) number of thermal anomalies than the well-established ASTER Volcano Archive (AVA). Despite the availability of a less populated dataset than other sensors, the RST implementation on ASTER data guarantees an efficient identification and mapping of volcanic thermal features even of a low-intensity level. To improve the temporal continuity of the active volcanoes monitoring, the possibility of exploiting RASTer is here addressed, in the perspective of an operational multi-satellite observing system. The latter could include mid-high spatial resolution satellite data (e.g., Sentinel-2/MSI, Landsat-8/OLI), as well as those at higher-temporal (lower spatial) resolution (e.g., EOS/MODIS, Suomi-NPP/VIIRS, Sentinel-3/SLSTR), for which RASTer could provide useful algorithm’s validation and training dataset

Sudden Sensorineural Hearing Loss: Results of intratympanic steroids as salvage treatment

Objective: The aim of the present study was to verify the efficacy and the safety of intratympanic dexamethasone to treat sudden sensorineural hearing loss as salvage therapy. Materials and methods: A prospective study was conducted on patients affected by idiopathic sudden hearing loss who were treated before with some systemic therapy, but without recovery of the hearing The patients able to undergo the study, but who refused salvage treatment were considered as control group. A solution of Dexamethasone 4 mg/ml was then injected through the posterior–inferior quadrant filling completely the middle ear. The follow-up in the following 6 months included an audiogram every month. Results: The number of patients treated with salvage therapy was 36. The patients who refused treatment were further 10. The salvage treatment was done with a mean delay of 24.3 days from the onset of symptoms. Mean hearing threshold after the onset of sudden hearing loss at PTA was 66.5 dB. After the failed treatment the mean PTA was 59.6 dB. The mean PTA after the intratympanic steroid administration was 46.8 dB, with a mean improvement of 12.8 dB. No hearing change was noted in the 10 patients who refused salvage therapy. The patients that assumed systemic steroid as first therapy showed a better PTA threshold after the salvage intratympanic treatment (p<0.01). A significant difference (p<0.05) of hearing recovery was evidenced between non-smoker patients and those with smoking habit. Conclusions: Our data showed that a salvage treatment with intratympanic dexamethasone should be suggested to all patients who failed the first systemic treatment. The systemic steroid therapy done before the salvage treatment seems to exert a protective role for the inner ear, as shown by our series. On the contrary the smoke habit is a negative prognostic factor in the hearing recovery

Primary Non-Hodgkin’s lymphoma of the parotid gland

Primary malignant lymphomas in the salivary glands are relatively rare. Clinical presentation is not characteristic and the disease is often overlooked resulting in diagnosis and treatment delays. Aim To stress the importance of the diagnostic process and combined management, we present a series of eight patients with malignant lymphoma of the parotid who were diagnosed only after surgery and managed with radiation and chemotherapy. Methods Retrospective series of patients with primary malignant lymphoma of the parotid gland managed with radiotherapy and diagnostic surgical partial resection. Results After treatment completion we achieved a loco-regional control rate of 87.5%. Toxicity was charted according to the Common Toxicity Criteria and it was seen in six patients (75%). Six patients are still alive without evidence of recurrent disease in their last follow-up. Conclusion Our study confirms that primary early stage Non-Hodgkin Lymphoma of the parotid gland is a disease with an excellent prognosis and a good local control rate, with minimal morbidity

DNMT3B in vitro knocking-down is able to reverse embryonal rhabdomyosarcoma cell phenotype through inhibition of proliferation and induction of myogenic differentiation

Aberrant DNA methylation has been frequently observed in many human cancers, including rhabdomyosarcoma (RMS), the most common soft tissue sarcoma in children. To date, the expression and function of the de novo DNA methyltransferase (DNMT) 3B in RMS have not yet been investigated. Our study show for the first time a significant up-regulation of DNMT3B levels in 14 RMS tumour samples and 4 RMS cell lines in comparison to normal skeletal muscle. Transfection of RD and TE671 cells, two in vitro models of embryonal RMS (ERMS), with a synthetic DNMT3B siRNA decreased cell proliferation by arresting cell cycle at G1 phase, as demonstrated by the reduced expression of Cyclin B1, Cyclin D1 and Cyclin E2, and by the concomitant up-regulation of the checkpoint regulators p21 and p27. DNMT3B depletion also impaired RB phosphorylation status and decreased migratory capacity and clonogenic potential. Interestingly, DNMT3B knock-down was able to commit ERMS cells towards myogenic terminal differentiation, as confirmed by the acquisition of a myogenic-like phenotype and by the increased expression of the myogenic markers MYOD1, Myogenin and MyHC. Finally, inhibition of MEK/ERK signalling by U0126 resulted in a reduction of DNMT3B protein, giving evidence that DNMT3B is a down-stream molecule of this oncogenic pathway.Taken together, our data indicate that altered expression of DNMT3B plays a key role in ERMS development since its silencing is able to reverse cell cancer phenotype by rescuing myogenic program. Epigenetic therapy, by targeting the DNA methylation machinery, may represent a novel therapeutic strategy against RMS

On the threshold of effective well infant nursery hearing screening in Western Sicily

Objective: To determine the feasibility and effectiveness of well-infant nursery hearing screening programme for the early identification of hearing impairment, based on transient evoked otoacoustic emission (TEOAE) with a high “screen sensitivity” reducing the number of more expensive secondary level exams. Methods: The newborns were screened by non-specialist health workers in well babies nursery at the twentieth day of life for 6 years consecutive. Based on PASS/FAIL criteria and presence/absence of audiological risk factors the newborns were divided into four groups each one with its personal step program: G1- PASS without risk factor, free to go home; G2 - PASS with risk factor, retest at the age of 7 months; G3 - FAIL without risk factor, re-screening after 2 weeks for a maximum of four times before audiology assessment; G4 - FAIL with risk factor, retest after 2 weeks. Results: The coverage rate increased progressively from 89.8% to 92%. The referral rate was 1.51% after second stage with a specificity value of 98.78%. The four-stage screening performed for G3 reduced the numbers of global audiology assessment to 0.91% with a final global specificity of 99.4+0.4%. Conclusion: Less than 1% of infants underwent audiological assessment; the false positives resulted 0.62% with hearing loss global incidence of 2.95/1000 and a mean age of confirmation of 3.5 months of age. It is reasonable to think that this screening program could be implement to overall forty-two Western Sicily birth centres within few years

An investigation of the self- and inter-incompatibility of the olive cultivars 'Arbequina' and 'Koroneiki' in the Mediterranean climate of Sicily

In this investigation, the self-(in)compatibility of the Spanish cultivar Arbequina and the Greek cultivar Koroneiki was studied for the first time in Sicily, where these low vigour cultivars were recently introduced in super-intensive olive groves. Self- (S.P.) and openpollination (O.P.) tests, observation of fruit set and paternity test of seeds with microsatellite (SSR) markers, were performed to ascertain whether these cultivars were self-fertile and/or inter-compatible. For S.P. tests, branches with flowers at the balloon stage were bagged. For the O.P. tests, flowers were left to pollinate under natural conditions. Fruits from S.P. and O.P. were collected in November and fruit set was calculated. Genomic DNA was extracted from seeds. None of the 'Arbequina' seeds studied in either the S.P. or O.P. tests originated from self-fertilization. In addition, none of these seeds had 'Koroneiki' as the pollen parent. In contrast, 'Koroneiki' was found to be predominantly self-compatible in self-bagged branches, with 70% of the seeds originating from selffertilization. However, the incidence of self-fertilization was low (11%) in seeds from the O.P. test. Low levels of inter-compatibility were found between 'Arbequina' and 'Koroneiki', while many local cultivars were found to be good pollinators. The information presented here will be useful to growers for planning their orchards with suitable pollinators and for our breeding program aiming at obtaining new low vigour olive genotypes. In addition, our results suggested that the recent model of attribution of S-alleles and the prediction of suitable pollinizers for a given variety should be more cautious and always based on controlled crosses and paternity testing of seed from those crosses