PRADER-WILLI SYNDROME: ORAL FINDINGS

Aim: Prader-Willi syndrome is a rare multisystemic genetic disorder caused by lack of expression of certain paternal genes located on chromosome 15. The syndrome, associated to hypothalamic and pituitary disfunction, is characterized by severe neonatal hypotonia and feeding problems. Neonatal hypotonia is followed, during childhood by hyperphagia and obesity. In addition, hypothalamic alterations can cause intellectual disability, behavioral problems, a high pain threshold, respiratory sleep disorders. The aim of this work is to evaluate the main dental aspects and the therapeutic implications. Methods: an analysis of the literature was performed using databases. Results: common clinical findings: gingivitis and periodontitis, dental and skeletal malocclusions, enamel hypoplasia, tooth wear and dental erosion, bruxism, xerostomia, candidiasis and angular cheilitis, high risk of caries and increased DMFT score.The typical poor oral hygiene in PWS patients is related to qualitative-quantitative changes in saliva and incoordination in tooth brushing. Conclusion: it is necessary to motivate family and patient to maintain oral hygiene. Due to the various systemic and dental problems, a six-monthly follow-up is required since early childhood. Dental treatment purposes require a multidisciplinary approach which includes periodontal and conservative cares. In prosthetics, we suggest the use of removable dentures because of the difficulty in maintaining oral hygiene

Reconstruction of nasal skin cancer defects with local flaps.

Reconstruction of nasal defects must preserve the integrity of complex facial functions and expressions, as well as facial symmetry and a pleasing aesthetic outcome. The reconstructive modality of choice will depend largely on the location, size, and depth of the surgical defect. Individualized therapy is the best course, and numerous flaps have been designed to provide coverage of a variety of nasal-specific defects. We describe our experience in the aesthetic reconstruction of nasal skin defects following oncological surgery. The use of different local flaps for nasal skin cancer defects is reported in 286 patients. Complications in this series were one partial flap dehiscence that healed by secondary intention, two forehead flaps, and one bilobed flap with minimal rim necrosis that resulted in an irregular scar requiring revision. Aesthetic results were deemed satisfactory by all patients and the operating surgeons. The color and texture matches were aesthetically good, and the nasal contour was distinct in all patients. All scars were inconspicuous and symmetrical. No patient had tenting or a flat nose

Defective One- or Two-electron Reduction of the Anticancer Anthracycline Epirubicin in Human Heart RELATIVE IMPORTANCE OF VESICULAR SEQUESTRATION AND IMPAIRED EFFICIENCY OF ELECTRON ADDITION

One-electron quinone reduction and two-electron carbonyl reduction convert the anticancer anthracycline doxorubicin to reactive oxygen species (ROS) or a secondary alcohol metabolite that contributes to inducing a severe form of cardiotoxicity. The closely related analogue epirubicin induces less cardiotoxicity, but the determinants of its different behavior have not been elucidated. We developed a translational model of the human heart and characterized whether epirubicin exhibited a defective conversion to ROS and secondary alcohol metabolites. Small myocardial samples from cardiac surgery patients were reconstituted in plasma that contained clinically relevant concentrations of doxorubicin or epirubicin. In this model only doxorubicin formed ROS, as detected by fluorescent probes or aconitase inactivation. Experiments with cell-free systems and confocal laser scanning microscopy studies of H9c2 cardiomyocytes suggested that epirubicin could not form ROS because of its protonation-dependent sequestration in cytoplasmic acidic organelles and the consequent limited localization to mitochondrial one-electron quinone reductases. Accordingly, blocking the protonation-sequestration mechanism with the vacuolar H+-ATPase inhibitor bafilomycin A1 relocalized epirubicin to mitochondria and increased its conversion to ROS in human myocardial samples. Epirubicin also formed ∼60% less alcohol metabolites than doxorubicin, but this was caused primarily by its higher Km and lower Vmax values for two-electron carbonyl reduction by aldo/keto-reductases of human cardiac cytosol. Thus, vesicular sequestration and impaired efficiency of electron addition have separate roles in determining a defective bioactivation of epirubicin to ROS or secondary alcohol metabolites in the human heart. These results uncover the molecular determinants of the reduced cardiotoxicity of epirubicin and serve mechanism-based guidelines to improving antitumor therapies

Distribution of spawning and nursery grounds for deep–water red shrimps in the central western Mediterranean Sea

The presence of spawning and nursery grounds of Aristeids in the central western Mediterranean Sea were investigated using fishery-independent data (trawl surveys, 1994–2012). Spatial distributions were generated for mature animals and recruits, for both spring/summer and autumn data, using an inverse distance-weighted deterministic interpolation. The persistence index was used to identify stable spawning and nursery grounds in the Sardinian slope region for Aristaeomorpha foliacea and Aristeus antennatus. Areas of aggregation for recruits and mature females appear to be connected with important physical habitat features. The analysis also suggests a seasonal bathymetric distribution for nursery areas. The recruits of A. foliacea are located in the upper part of the continental slope (377-450 m) in spring/summer and reach greater depths (468-628 m) in autumn. For A. antennatus, for which nursery areas only emerge in autumn, there is presumably an opposite ontogenic migration, from deep sea to upper slope, during the summer (575-681 m). The results also indicate a partial overlap between the nursery and spawning grounds of both species. In this particular area, local environmental conditions such as upwelling events or the presence of canyons and seamounts seem to play an important role in their distribution. This study also generated relevant information on the spatial and temporal distribution of seasonal or persistent aggregations of spawners and recruits, providing scientific elements to suggest the protection of these important resources

Primitive Neuroectodermal Tumor (PNET) of the kidney: a case report

BACKGROUND: A case of Primitive Neuroectodermal Tumor (PNET) of the kidney in a 27-year-old woman is presented. Few cases are reported in the literature with a variable, nonspecific presentation and an aggressive behaviour. In our case, a radical nephrectomy with lymphadenectomy was performed and there was no residual or recurrent tumour at 24-month follow-up. METHODS: The surgical specimens were formalin-fixed and paraffin embedded. The sections were stained with routinary H&E. Immunohistochemistry was performed. RESULTS: The immunohistochemical evaluation revealed a diffuse CD99 positivity in the cytoplasm of the neoplastic cells. Pankeratin, cytokeratin AE1/AE3, vimentin, desmin, S100, cromogranin were negative. The clinical presentation and the macroscopic aspect, together with the histological pattern, the cytological characteristic and the cellular immunophenotype addressed the diagnosis towards primary PNET of kidney. CONCLUSIONS: Since sometimes it is difficult to discriminate between PNET and Ewing's tumour, we reviewed the difficulties in differential diagnosis. These tumors have a common precursor but the stage of differentiation in which it is blocked is probably different. This could also explain their different biological behaviour and prognosis

The need to research refractory breathlessness

High-quality research is needed to improve quality of life for people with chronic refractory breathlessness in COP

Monitoring Winter and Summer Abundance of Cetaceans in the Pelagos Sanctuary (Northwestern Mediterranean Sea) Through Aerial Surveys

Systematic long-term monitoring of abundance is essential to inform conservation measures and evaluate their effectiveness. To instigate such work in the Pelagos Sanctuary in the Mediterranean, two aerial surveys were conducted in winter and summer 2009. A total of 467 (131 in winter, 336 in summer) sightings of 7 species was made. Sample sizes were sufficient to estimate abundance of fin whales in summer (148; 95% CI = 87–254) and striped dolphins in winter (19,462; 95% CI = 12 939–29 273) and in summer (38 488; 95% CI = 27 447–53 968). Numbers of animals within the Sanctuary are significantly higher in summer, when human activities and thus potential population level impacts are highest. Comparisons with data from past shipboard surveys suggest an appreciable decrease in fin whales within the Sanctuary area and an appreciable increase in striped dolphins. Aerial surveys proved to be more efficient than ship surveys, allowing more robust estimates, with smaller CIs and CVs. These results provide essential baseline data for this marine protected area and continued regular surveys will allow the effectiveness of the MPA in terms of cetacean conservation to be evaluated and inform future management measures. The collected data may also be crucial in assessing whether ship strikes, one of the main causes of death for fin whales in the Mediterranean, are affecting the Mediterranean population

From sea monsters to charismatic megafauna: changes in perception and use of large marine animals

Marine megafauna has always elicited contrasting feelings. In the past, large marine animals were often depicted as fantastic mythological creatures and dangerous monsters, while also arousing human curiosity. Marine megafauna has been a valuable resource to exploit, leading to the collapse of populations and local extinctions. In addition, some species have been perceived as competitors of fishers for marine resources and were often actively culled. Since the 1970s, there has been a change in the perception and use of megafauna. The growth of marine tourism, increasingly oriented towards the observation of wildlife, has driven a shift from extractive to non-extractive use, supporting the conservation of at least some species of marine megafauna. In this paper, we review and compare the changes in the perception and use of three megafaunal groups, cetaceans, elasmobranchs and groupers, with a special focus on European cultures. We highlight the main drivers and the timing of these changes, compare different taxonomic groups and species, and highlight the implications for management and conservation. One of the main drivers of the shift in perception, shared by all the three groups of megafauna, has been a general increase in curiosity towards wildlife, stimulated inter alia by documentaries (from the early 1970s onwards), and also promoted by easy access to scuba diving. At the same time, environmental campaigns have been developed to raise public awareness regarding marine wildlife, especially cetaceans, a process greatly facilitated by the rise of Internet and the World Wide Web. Currently, all the three groups (cetaceans, elasmobranchs and groupers) may represent valuable resources for ecotourism. Strikingly, the economic value of live specimens may exceed their value for human consumption. A further change in perception involving all the three groups is related to a growing understanding and appreciation of their key ecological role. The shift from extractive to non-extractive use has the potential for promoting species conservation and local economic growth. However, the change in use may not benefit the original stakeholders (e.g. fishers or whalers) and there may therefore be a case for providing compensation for disadvantaged stakeholders. Moreover, it is increasingly clear that even non-extractive use may have a negative impact on marine megafauna, therefore regulations are needed.SFRH/BPD/102494/2014, UID/MAR/04292/2019, IS1403info:eu-repo/semantics/publishedVersio