Search

Abstract $$\varLambda $$ Λ -Cold Dark Matter ( $$\varLambda $$ Λ CDM) has been successful at explaining the large-scale structures in the universe but faces severe issues on smaller scales when compared to observations. Introducing self-interactions between dark matter particles claims to provide a solution to the small-scale issues in the $$\varLambda $$ Λ CDM simulations while being consistent with the observations at large scales. The existence of the energy region in which these self-interactions between dark matter particles come close to saturating the S-wave unitarity bound can result in the formation of dark matter bound states called darkonium. In this scenario, all the low energy scattering properties are determined by a single parameter, the inverse scattering length $$\gamma $$ γ . In this work, we set bounds on $$\gamma $$ γ by studying the impact of darkonium on the observations at direct detection experiments using data from CRESST-III and XENON1T. The exclusion limits on $$\gamma $$ γ are then subsequently converted to exclusion limits on the self-interaction cross-section and compared with the constraints from astrophysics and N-body simulations.

Abstract Coherent elastic neutrino-nucleus scattering (CE $$\nu $$ ν NS) poses an irreducible background in the search for dark matter-nucleus elastic scatterings, which is commonly known as the neutrino floor. As direct dark matter search experiments keep improving their sensitivity into so far unexplored regions, they face the challenge of approaching this neutrino floor. A precise description of the CE $$\nu $$ ν NS signal is therefore crucial for the description of backgrounds for future DM searches. In this work we discuss the scenario of detecting neutrinos in low-threshold, high-exposure cryogenic solid state experiments optimized for the search of low-mass dark matter. The energy range considered is completely dominated by solar neutrinos. In absence of any dark matter events, we treat solar neutrinos as the main signal of interest. We show that sensitivity to the flux of neutrinos from different production mechanisms can be achieved. In particular we investigate the sensitivity to the flux of pp and $$^{7}$$ 7 Be neutrinos, as well as CNO neutrinos. Furthermore, we investigate the sensitivity to dark matter signals in the presence of a solar neutrino background for different experimental scenarios, which are defined by three parameters: the target material, the energy threshold and the exposure. We show that experiments with thresholds of $$\mathcal {O}$$ O (eV) and exposures of $$\mathcal {O}$$ O (tonne-years), using $$\hbox {CaWO}_{4}$$ CaWO 4 or $$\hbox {Al}_{2}\hbox {O}_{3}$$ Al 2 O 3 targets, have discovery potential for dark matter interaction cross sections in the neutrino floor.

Abstract In recent times, the sensitivity of low-mass direct dark matter searches has been limited by unknown low energy backgrounds close to the energy threshold of the experiments known as the low energy excess (LEE). The CRESST experiment utilises advanced cryogenic detectors constructed with different types of crystals equipped with Transition Edge Sensors (TESs) to measure signals of nuclear recoils induced by the scattering of dark matter particles in the detector. In CRESST, this low energy background manifests itself as a steeply rising population of events below 200 eV. A novel detector design named doubleTES using two identical TESs on the target crystal was studied to investigate the hypothesis that the events are sensor-related. We present the first results from two such modules, demonstrating their ability to differentiate between events originating from the crystal’s bulk and those occurring in the sensor or in its close proximity.

Abstract Cryogenic scintillating calorimeters are ultra- sensitive particle detectors for rare event searches, particularly for the search for dark matter and the measurement of neutrino properties. These detectors are made from scintillating target crystals generating two signals for each particle interaction. The phonon (heat) signal precisely measures the deposited energy independent of the type of interacting particle. The scintillation light signal yields particle discrimination on an event-by-event basis. This paper presents a likelihood framework modeling backgrounds and a potential dark matter signal in the two-dimensional plane spanned by phonon and scintillation light energies. We apply the framework to data from CaWO $$_4$$ 4 -based detectors operated in the CRESST dark matter search. For the first time, a single likelihood framework is used in CRESST to model the data and extract results on dark matter in one step by using a profile likelihood ratio test. Our framework simultaneously fits (neutron) calibration data and physics (background) data and allows combining data from multiple detectors. Although tailored to CaWO $$_4$$ 4 -targets and the CRESST experiment, the framework can easily be expanded to other materials and experiments using scintillating cryogenic calorimeters for dark matter search and neutrino physics.

Abstract Diamond operated as a cryogenic calorimeter is an excellent target for direct detection of low-mass dark matter candidates. Following the realization of the first low-threshold cryogenic detector that uses diamond as absorber for astroparticle physics applications, we now present the resulting exclusion limits on the elastic spin-independent interaction cross-section of dark matter with diamond. We measured two 0.175 g CVD (Chemical Vapor Deposition) diamond samples, each instrumented with a Transition Edge Sensor made of Tungsten (W-TES). Thanks to the energy threshold of just 16.8 eV of one of the two detectors, we set exclusion limits on the elastic spin-independent interaction of dark matter particles with carbon nuclei down to dark matter masses as low as 0.122 GeV/c $$^2$$ 2 . This work shows the scientific potential of cryogenic detectors made from diamond and lays the foundation for the use of this material as target for direct detection dark matter experiments.

Abstract CUPID will be a next generation experiment searching for the neutrinoless double $$\beta $$ β decay, whose discovery would establish the Majorana nature of the neutrino. Based on the experience achieved with the CUORE experiment, presently taking data at LNGS, CUPID aims to reach a background free environment by means of scintillating Li $$_{2}$$ 2 $$^{100}$$ 100 MoO $$_4$$ 4 crystals coupled to light detectors. Indeed, the simultaneous heat and light detection allows us to reject the dominant background of $$\alpha $$ α particles, as proven by the CUPID-0 and CUPID-Mo demonstrators. In this work we present the results of the first test of the CUPID baseline module. In particular, we propose a new optimized detector structure and light sensors design to enhance the engineering and the light collection, respectively. We characterized the heat detectors, achieving an energy resolution of (5.9 ± 0.2) keV FWHM at the Q-value of $$^{100}$$ 100 Mo (about 3034 keV). We studied the light collection of the baseline CUPID design with respect to an alternative configuration which features gravity-assisted light detectors’ mounting. In both cases we obtained an improvement in the light collection with respect to past measures and we validated the particle identification capability of the detector, which ensures an $$\alpha $$ α particle rejection higher than 99.9%, fully satisfying the requirements for CUPID.

Abstract CRESST is one of the most prominent direct detection experiments for dark matter particles with sub-GeV/c $$^2$$ 2 mass. One of the advantages of the CRESST experiment is the possibility to include a large variety of nuclides in the target material used to probe dark matter interactions. In this work, we discuss in particular the interactions of dark matter particles with protons and neutrons of $$^{6}$$ 6 Li. This is now possible thanks to new calculations on nuclear matrix elements of this specific isotope of Li. To show the potential of using this particular nuclide for probing dark matter interactions, we used the data collected previously by a CRESST prototype based on LiAlO $$_2$$ 2 and operated in an above ground test-facility at Max-Planck-Institut für Physik in Munich, Germany. In particular, the inclusion of $$^{6}$$ 6 Li in the limit calculation drastically improves the result obtained for spin-dependent interactions with neutrons in the whole mass range. The improvement is significant, greater than two order of magnitude for dark matter masses below 1 GeV/c $$^2$$ 2 , compared to the limit previously published with the same data.

Abstract In this work, a first cryogenic characterization of a scintillating $$\hbox {LiAlO}_{2}$$ LiAlO 2 single crystal is presented. The results achieved show that this material holds great potential as a target for direct dark matter search experiments. Three different detector modules obtained from one crystal grown at the Leibniz-Institut für Kristallzüchtung (IKZ) have been tested to study different properties at cryogenic temperatures. Firstly, two 2.8 g twin crystals were used to build different detector modules which were operated in an above-ground laboratory at the Max Planck Institute for Physics (MPP) in Munich, Germany. The first detector module was used to study the scintillation properties of $$\hbox {LiAlO}_{2}$$ LiAlO 2 at cryogenic temperatures. The second achieved an energy threshold of ( $$213.02\pm 1.48$$ 213.02 ± 1.48 ) eV which allows setting a competitive limit on the spin-dependent dark matter particle-proton scattering cross section for dark matter particle masses between $$350\,\hbox {MeV/c}^{2}$$ 350 MeV/c 2 and $$1.50\,\hbox {GeV/c}^{2}$$ 1.50 GeV/c 2 . Secondly, a detector module with a 373 g $$\hbox {LiAlO}_{2}$$ LiAlO 2 crystal as the main absorber was tested in an underground facility at the Laboratori Nazionali del Gran Sasso (LNGS): from this measurement it was possible to determine the radiopurity of the crystal and study the feasibility of using this material as a neutron flux monitor for low-background experiments.

Abstract The CRESST (Cryogenic Rare Event Search with Superconducting Thermometers) dark matter search experiment aims for the detection of dark matter particles via elastic scattering off nuclei in $$\mathrm {CaWO_4}$$ CaWO4 crystals. To understand the CRESST electromagnetic background due to the bulk contamination in the employed materials, a model based on Monte Carlo simulations was developed using the Geant4 simulation toolkit. The results of the simulation are applied to the TUM40 detector module of CRESST-II phase 2. We are able to explain up to $$(68 \pm 16)\,\mathrm {\%}$$ (68±16)% of the electromagnetic background in the energy range between 1 and $$40\,\mathrm {keV}$$ 40keV .

Abstract In this work, we want to highlight the potential of lithium as a target for spin-dependent dark matter search in cryogenic experiments, with a special focus on the low-mass region of the parameter space. We operated a prototype detector module based on a $$\hbox {Li}_2\hbox {MoO}_4$$ Li2MoO4 target crystal in an above-ground laboratory. Despite the high background environment, the detector sets a competitive limit on spin-dependent interactions of dark matter particles with protons and neutrons for masses between $$0.8~\hbox {GeV/c}^2$$ 0.8GeV/c2 and $$1.5~\hbox {GeV/c}^2$$ 1.5GeV/c2 .

Abstract CRESST is a direct dark matter search experiment, aiming for an observation of nuclear recoils induced by the interaction of dark matter particles with cryogenic scintillating calcium tungstate crystals. Instead of confining ourselves to standard spin-independent and spin-dependent searches, we re-analyze data from CRESST-II using a more general effective field theory (EFT) framework. On many of the EFT coupling constants, improved exclusion limits in the low-mass region (< 3–4 GeV/$$c^2$$ c2 ) are presented.

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The CRESST experiment observes an unexplained excess of events at low energies. In the current CRESST-III data-taking campaign we are operating detector modules with different designs to narrow down the possible explanations. In this work, we show first observations of the ongoing measurement, focusing on the comparison of time, energy and temperature dependence of the excess in several detectors. These exclude dark matter, radioactive backgrounds and intrinsic sources related to the crystal bulk as a major contribution.

The CRESST-III experiment aims at the direct detection of dark matter particles via their elastic scattering off nuclei in a scintillating CaWO$_4$ target crystal. For many years CaWO$_4$ crystals have successfully been produced in-house at Technische Universität München with a focus on high radiopurity. To further improve the CaWO$_4$ crystals, an extensive chemical purification of the raw materials has been performed and the crystal TUM93 was produced from this powder. We present results from an $\alpha$-decay rate analysis performed on 344 days of data collected in the ongoing CRESST-III data-taking campaign. The $\alpha$-decay rate could significantly be reduced.

Many low-threshold experiments observe sharply rising event rates of yet unknown origins below a few hundred eV, and larger than expected from known backgrounds. Due to the significant impact of this excess on the dark matter or neutrino sensitivity of these experiments, a collective effort has been started to share the knowledge about the individual observations. For this, the EXCESS Workshop was initiated. In its first iteration in June 2021, ten rare event search collaborations contributed to this initiative via talks and discussions. The contributing collaborations were CONNIE, CRESST, DAMIC, EDELWEISS, MINER, NEWS-G, NUCLEUS, RICOCHET, SENSEI and SuperCDMS. They presented data about their observed energy spectra and known backgrounds together with details about the respective measurements. In this paper, we summarize the presented information and give a comprehensive overview of the similarities and differences between the distinct measurements. The provided data is furthermore publicly available on the workshop’s data repository together with a plotting tool for visualization.

Introduction: Self-expanding Y-metal stents (SEMS) are best suited lesions with involvement of the carina and proximal main bronchi; however, Y-stents can be difficult to place. These difficulties guided us to develop a modification of the classic technique that addresses some of the challenges during positioning. We present the Y reverse technique for Y stent insertion using a combination of rigid and flexible bronchoscopy., Materials and Methods: This retrospective study included 15 consecutive patients, suffering from tracheal-carina-lower main bronchi complex, hospitalized at the Thoracic Surgery Unit of the Vanvitelli University of Naples between October 2021 and October 2023., Inclusion Criteria: patients in which the length of the stenosis of the right bronchi was greater than that of the left bronchi, advanced oncological conditions, severe respiratory failure; exclusion criteria: Karnofsky scale with <40 points. All patients were admitted to the hospital and treated with Y-stent insertion using the modified technique Y reverse., Results: The comparison between the group undergoing the Y reverse technique with the group undergoing the traditional positioning of the Y prosthesis has shown an improvement in respiratory function; prolongation of the mean survival time; improvement in SpO 2 in spontaneous breathing; reduction mean time procedure. p < 0.05 was considered as statistically significant., Conclusion: Y Reverse is a safe and effective procedure that provides rapid symptom relief in individuals who have critical central airway obstruction near the distal portion of the trachea, carina, and main right and left bronchi., (© 2024 The Author(s). Thoracic Cancer published by John Wiley & Sons Australia, Ltd.)

Background: As an extended analysis of the COVID-DELAY study, we aimed to assess the impact of the COVID-19 pandemic on diagnosis, staging, and survival outcomes among patients with colorectal cancer (CRC) diagnosis performed from 2019 to 2022., Methods: All consecutive newly diagnosed CRC patients referred to 11 Italian Oncology Departments between March and December 2019, 2020, 2021, and 2022 were enrolled. Access rate, demographics, diagnostic-therapeutic temporal intervals, and first-line progression-free survival (PFS) and OS among metastatic patients were assessed., Results: Compared to 2019 (n = 690), an initial global reduction in new CRC cases in 2020 (n = 564, -18.3%) was observed, followed by a progressive increase in new CRC diagnoses in 2021 (n = 748, + 8.4%) and 2022 (n = 756, + 9.6%); a higher rate of TNM stage IV tumors was diagnosed in 2020 (35.4%) and 2021 (31.0%) compared to 2019 (29.6%), with normalization in 2022 (26.4%) (P < .001). Not clinically relevant differences between histological diagnosis and first oncological examination, cytohistological diagnosis and systemic treatment start, first oncological appointment and systemic treatment start, treatment start and first radiological assessment between 2020 and 2021-2022 years were found. After propensity score matching according to the year of diagnosis, median OS was significantly worse in 2020, 2021, and 2022 compared to 2019 (27.6 vs 24.8 vs not reached vs 38.9 months, respectively) (P < .001). Concordantly, the median PFS was significantly worse with each passing year: 13.0 vs 11.1 vs 9.2 vs 7.2 months in 2019, 2020, 2021, and 2022, respectively (P = .00027)., Conclusions: A progressive normalization in the rate of new CRC diagnosis as well as TNM stages at diagnosis, in 2021 and 2022 compared to 2020 and 2019, was found. The increase in new CRC cases might have affected some diagnostic-therapeutic time intervals in 2021-2022 years compared to 2020. Significantly, compared to the pre-pandemic phase, pandemic years were independently associated with worse PFS and OS outcomes in patients affected by metastatic disease., (© The Author(s) 2024. Published by Oxford University Press.)

Background and Aims: Cholangiocarcinoma (CCA), a rare and aggressive hepatobiliary malignancy, presents significant clinical management challenges. Despite rising incidence and evolving treatment options, prognosis remains poor, motivating the exploration of real-world data for enhanced understanding and patient care., Methods: This multicenter study analyzed data from 120 metastatic CCA patients at three institutions from 2016 to 2023. Kaplan-Meier curves assessed overall survival (OS), while univariate and multivariate analyses evaluated links between clinical variables (age, gender, tumor site, metastatic burden, ECOG performance status, response to first-line chemotherapy) and OS. Genetic profiling was conducted selectively., Results: Enrolled patients had a median age of 68.5 years, with intrahepatic tumors predominant in 79 cases (65.8%). Among 85 patients treated with first-line chemotherapy, cisplatin and gemcitabine (41.1%) was the most common regimen. Notably, one-third received no systemic treatment. After a median 14-month follow-up, 81 CCA-related deaths occurred, with a median survival of 13.1 months. Two clinical variables independently predicted survival: response to first-line chemotherapy (disease control vs. no disease control; HR: 0.27; 95% CI: 0.14-0.50; p < 0.0001) and metastatic involvement (>1 site vs. 1 site; HR: 1.99; 95% CI: 1.04-3.80; p = 0.0366). The three most common genetic alterations involved the ARID1A, tp53, and CDKN2A genes., Conclusions: Advanced CCA displays aggressive clinical behavior, emphasizing the need for treatments beyond chemotherapy. Genetic diversity supports potential personalized therapies. Collaborative research and deeper CCA biology understanding are crucial to enhance patient outcomes in this challenging malignancy., (© 2024 The Authors. Cancer Medicine published by John Wiley & Sons Ltd.)

Cryogenic phonon detectors with transition-edge sensors achieve the best sensitivity to sub-GeV/c 2 dark matter interactions with nuclei in current direct detection experiments. In such devices, the temperature of the thermometer and the bias current in its readout circuit need careful optimization to achieve optimal detector performance. This task is not trivial and is typically done manually by an expert. In our work, we automated the procedure with reinforcement learning in two settings. First, we trained on a simulation of the response of three Cryogenic Rare Event Search with Superconducting Thermometers (CRESST) detectors used as a virtual reinforcement learning environment. Second, we trained live on the same detectors operated in the CRESST underground setup. In both cases, we were able to optimize a standard detector as fast and with comparable results as human experts. Our method enables the tuning of large-scale cryogenic detector setups with minimal manual interventions., Competing Interests: Competing interestsOn behalf of all authors, the corresponding author states that there is no conflict of interest. The datasets generated during and/or analyzed during the current study are available from the corresponding author on reasonable request., (© The Author(s) 2024.)

The ongoing glomerular damage of infections is not limited to the most widely known form of post-streptococcal glomerulonephritis, which is today less common in the Western world; other forms of glomerulonephritis are associated with several bacterial, viral and parasitic pathogens. The mechanisms responsible range from the direct damage of glomerular cells to the formation and deposition of immunocomplexes to molecular mimicry to the secretion of superantigens. Similarly, in the course of glomerular disease, infections are more frequent than in the general population due to the loss of immunoglobulins in urine and the immunosuppressive agents used to treat the autoimmune disease that decrease the activity of the immune system. Recognizing this two-way link, understanding its pathogenetic mechanism, and identifying the most appropriate therapeutic choice are essential for the personalized management of patients. In this continuously developing field, this short review summarizes the current state of the art as support for physicians, who are increasingly involved in managing patients with glomerular disease and infections.

BACKGROUND The nasal ala is a paired structural subunit of the nose that is functionally important in the maintenance of the nasal valve. It consists of 3 anatomically distinct layers: skin, cartilage, and mucosa, all of which need to be restored in reconstructive surgeries to maintain nasal patency. When multiple layers are involved in a defect, the reconstruction requires combining procedures to replace each layer. CASE REPORT We describe a peculiar case of a 58-year-old man with a full-thickness loss of substance of the right nasal ala due to a human bite. The patient came to our hospital after an altercation with another man who bit his nose off. He was initially seen at a smaller regional hospital that did not have a plastic surgery department and was soon after transferred to our facility due to the complexity of the case. To reduce the risk of infection, the patient was treated with a complete course of intravenous antibiotic therapy and the wound was medicated daily with antiseptic solutions. The loss of substance was reconstructed with a composed graft from the auricle concha and the melolabial flap. CONCLUSIONS Defects of the nasal ala are challenging to reconstruct, given its complex 3-dimensional structure. The successful repair of these defects provides aesthetic symmetry and preserves nasal function. A wide variety of reconstructive options have been utilized in many nasal reconstruction cases and have been documented. The combination of a chondro-cutaneous graft from the auricular concha and a melolabial flap graft allowed a good result without local or systemic complications.

Extra virgin olive oil (EVOO) is a mainstay of the Mediterranean diet with its excellent balance of fats and antioxidant bioactive compounds. Both the phenolic and lipid fractions of EVOO contain a variety of antioxidant and anticancer substances which might protect from the development of colorectal cancer (CRC). The function of the intestinal microbiome is essential for the integrity of the intestinal epithelium, being protective against pathogens and maintaining immunity. Indeed, dysbiosis of the microbiota alters the physiological functions of the organ, leading to the onset of different diseases including CRC. It is known that some factors, including diet, could deeply influence and modulate the colon microenvironment. Although coming from animal models, there is increasing evidence that a diet rich in EVOO is linked to a significant reduction in the diversity of gut microbiome (GM), causing a switch from predominant bacteria to a more protective group of bacteria. The potential beneficial effect of the EVOO compounds in the carcinogenesis of CRC is only partially known and further trials are needed in order to clarify this issue. With this narrative review, we aim at discussing the available evidence on the effect of olive oil consumption on GM in the prevention of CRC.

BACKGROUND Basal cell carcinoma (BCC) greater than 5 cm in diameter is called giant basal cell carcinoma (GBCC), or super giant basal cell carcinoma if it has a diameter larger than 20 cm. Giant BCC only accounts for 0.5% of BCCs and super giant BCC is exceedingly rare. On account of their rarity, there are no established guidelines for GBCC treatment. CASE REPORT We describe a peculiar case of an 82-year-old woman with a GBCC carcinoma of the lower abdominal wall. The tumor was surgically removed with ipsilateral inguinal lymph nodes and the abdominal wall was reconstructed immediately with a pedicled deep inferior epigastric artery perforator (DIEP) flap. CONCLUSIONS Treatment of giant basal cell carcinoma is often difficult, especially in elderly patients with poor general health and multiple pathologies. The pedicled DIEP flap is rotated to cover the loss of substance without tension, and it is easy to harvest and transfer. This flap allowed a good result without local or systemic complication. We present this report as a reminder of the occasional occurrence of extremely aggressive BCCs. We believe that, especially for rare tumors like these, it is very useful for the entire scientific community to publish these cases and the therapeutic strategies used to treat them.

Background: The assessment of individual exposure to toxicants in industrially contaminated areas is difficult when multiple productions are active close to residential areas. Two thermoelectric power plants and a large harbor have been operating since the '60s in the area of Civitavecchia (North of Rome)., Methods: The ABC (Ambiente e Biomonitoraggio nell'area di Civitavecchia, Environment and Biomonitoring in Civitavecchia) program involved, in the period 2013-2014, residents in Civitavecchia and in the nearby municipalities (Santa Marinella, Allumiere, Tolfa and Tarquinia). They were randomly selected from the Municipal Register's data and their residence addresses were geocoded using GIS techniques. Biomonitoring of the following urinary metals, Sb, Be, Mo, Cd, Sn, W, Ir, Pt, Hg, Tl, V, Cr, Mn, Co, Ni, Cu, Zn, Rh, Pd, As were performed. Glucose and lipid metabolism, liver, renal, and endocrine function were evaluated through blood laboratory tests. Tests of lung functionwere also carried out as well as saturometry (oxygen rate in the blood with an illuminated sensor placed on the fingertip), anthropometric and blood pressure measurements. Information on individual characteristics, histories of exposure, such as the consumption of local food, occupational history, lifestyle and medical history were collected through a validated questionnaire. Samples of nails and hair were also collected. The biological material (blood, urine, nails and hair) was stored in a biobank for future analysis related to the possible mechanisms of biological damage. The study protocol received the approval of the local ethics committee., Results: A total of 1177 residents were enrolled (58% female, 60% with a secondary or graduate school degree). No particular differences in metal concentrations based on the municipality of residence were observed. For arsenic, mercury, lead, and tungsten some differences between the two geographical areas were observed, probably due to different diet, lifestyle (e.g., alcohol consumption, smoking, use of jewelry and piercings, tattoos, physical activity, hormonal and mineral supplements, and drugs), and occupational exposure., Conclusions: The undergoing study on the association between biomarkers concentration and pollutants concentrations - estimated using a dispersion modeling approach, and adjusting for personal characteristics and concomitant other environmental exposure - could clarify the individual exposure of the residents in this industrial area.

Germline CDKN2A mutations have been described in 25% to 40% of melanoma families from several countries. Sicilian population is genetically different from the people of Europe and Northern Italy because of its historical background, therefore familial melanoma could be due to genes different from high-penetrance CDKN2A gene. Four hundred patients with cutaneous melanoma were observed in a 6-years period at the Plastic Surgery Unit of the University of Palermo. Forty-eight patients have met the criteria of the Italian Society of Human Genetics (SIGU) for the diagnosis of familial melanoma and were screened for CDKN2A and CDK4 mutations. Mutation testing revealed that none of the families carried mutations in CDK4 and only one patient harboured the rare CDKN2A p.R87W mutation. Unlike other studies, we have not found high mutation rate of CDKN2A in patients affected by familial melanoma or multiple melanoma. This difference could be attributed to different factors, including the genetic heterogeneity of the Sicilian population. It is likely that, as in the Australian people, the inheritance of familial melanoma in this island of the Mediterranean Sea is due to intermediate/low-penetrance susceptibility genes, which, together with environmental factors (as latitude and sun exposure), could determine the occurrence of melanoma.

In patients suffering from oral cavity cancer surgical treatment is complex because it is necessary to remove carcinoma and lymph node metastasis (through a radical unilateral or bilateral neck dissection) and to reconstruct the affected area by means of free flaps. The saliva stagnation in the post-operative period is a risk factor with regard to local complications. Minor complications related to saliva stagnation (such as tissue maceration and wound dehiscence) could become major complications compromising the surgery or the reconstructive outcome. In fact the formation of oro-cutaneous fistula may cause infection, failure of the free flap, or the patient&#8217;s death with carotid blow-out syndrome. Botulinum injections in the major salivary glands, four days before surgery, temporarily reduces salivation during the healing stage and thus could reduce the incidence of saliva-related complications. Forty three patients with oral cancer were treated with botulinum toxin A. The saliva quantitative measurement and the sialoscintigraphy were performed before and after infiltrations of botulinum toxin in the major salivary glands. In all cases there was a considerable, but temporary, reduction of salivary secretion. A lower rate of local complications was observed in the post-operative period. The salivary production returned to normal within two months, with minimal side effects and discomfort for the patients. The temporary inhibition of salivary secretion in the post-operative period could enable a reduction in saliva-related local complications, in the incidence of oro-cutaneous fistulas, and improve the outcome of the surgery as well as the quality of residual life in these patients.