Phenotypic Spectrum and Molecular Findings in 17 ATR-X Syndrome Italian Patients: Some New Insights

ATR-X syndrome is a rare X-linked congenital disorder caused by hypomorphic mutations in the ATRX gene. A typical phenotype is well defined, with cognitive impairment, characteristic facial dysmorphism, hypotonia, gastrointestinal, skeletal, urogenital, and hematological anomalies as characteristic features. With a few notable exceptions, general phenotypic differences related to specific ATRX protein domains are not well established and should not be used, at least at the present time, for prognostic purposes. The phenotypic spectrum and genotypic correlations are gradually broadening, mainly due to rapidly increasing accessibility to NGS. In this scenario, it is important to continue describing new patients, illustrating the mode and age of onset of the typical and non-typical features, the classical ones and those tentatively added more recently. This report of well-characterized and mostly unreported patients expands the ATR-X clinical spectrum and emphasizes the importance of better clinical delineation of the condition. We compare our findings to those of the largest ATR-X series reported so far, discussing possible explanations for the different drawn conclusions

Superconformal Algebras and Mock Theta Functions

It is known that characters of BPS representations of extended superconformal algebras do not have good modular properties due to extra singular vectors coming from the BPS condition. In order to improve their modular properties we apply the method of Zwegers which has recently been developed to analyze modular properties of mock theta functions. We consider the case of N=4 superconformal algebra at general levels and obtain the decomposition of characters of BPS representations into a sum of simple Jacobi forms and an infinite series of non-BPS representations. We apply our method to study elliptic genera of hyper-Kahler manifolds in higher dimensions. In particular we determine the elliptic genera in the case of complex 4 dimensions of the Hilbert scheme of points on K3 surfaces K^{[2]} and complex tori A^{[[3]]}.Comment: 28 page

Cascading Failures in Interconnected Power-to-Water Networks

The manageability and resilience of critical infrastructures, such as power and water networks, is challenged by their increasing interdependence and interconnectivity. Power networks often experience cascading failures, i.e. blackouts, that have unprecedented economic and social impact. Al- though knowledge exists about how to control such complex non-linear phenomena within a single power network, little is known about how such failures can spread and coevolve in the water network when failing power components energize the water distribution infrastructure, i.e. pumps and valves. This paper studies such a scenario and specifically the impact of power cascading failures on shortages of water supply. A realistic exemplary of an interconnected power-to-water network is experimentally evaluated using a modular simulation approach. Power and waterflow dynamics are simulated separately by taking into account different maximum powerlines capacities and water demand requirements. Results showcase the strong dependency of urban water sup- ply systems on the reliability of power networks, with severe shortages of water supply being caused by failures originating indistant power lines, especially for heavily loaded power networks

Longevity: Lesson from model organisms

Research on longevity and healthy aging promises to increase our lifespan and decrease the burden of degenerative diseases with important social and economic effects. Many aging theories have been proposed, and important aging pathways have been discovered. Model organisms have had a crucial role in this process because of their short lifespan, cheap maintenance, and manipulation possibilities. Yeasts, worms, fruit flies, or mammalian models such as mice, monkeys, and recently, dogs, have helped shed light on aging processes. Genes and molecular mechanisms that were found to be critical in simple eukaryotic cells and species have been confirmed in humans mainly by the functional analysis of mammalian orthologues. Here, we review conserved aging mechanisms discovered in different model systems that are implicated in human longevity as well and that could be the target of anti-aging interventions in human

Prevalence of sexually transmitted infections and enteric protozoa among homosexual men in western Sicily (south Italy)

Introduction. In recent years an increase in the number of sexu- ally transmitted infections (STIs) in men who have sex with men (MSM) has been reported in different industrialised countries. Because few epidemiological data on the STIs/MSM population in Sicily are available, a survey was conducted to assess the preva- lence of STIs/enteric protozoa and risky sexual behaviours among MSM in western Sicily. Methods. In 2010, 74 MSM with median age of 30 years old, were recruited via networks. All participants to the study were interviewed by anonymous self-administered questionnaire in order to collect social/demographic information, clinic data and STI-related risky sexual behaviours. After completing the ques- tionnaire, blood samples were collected to determine HIV, HCV, HHV8 and Treponema pallidum antibodies; presence of Giardia duodenalis and Cryptosporidium parvum was also investigated in faecal samples by immunofluorescence assay. Results. HIV, HHV8, T. pallidum and Giardia prevalence were 8.1%, 16.2%, 21.6% and 16.4% respectively; all patients were negative for HCV and Cryptosporidium infections. The median values of sexual anal intercourse and oral sex per week were 2 and 1, respectively. 7% of participants always had unprotected anal sex, 50.7% sometimes used condom during sexual anal inter- course and 42.3% always had protected anal sex. All MSM-HIV+ and 7 (43.7%) syphilis seropositives were unaware of their own infection. Discussion. MSM in western Sicily are a high risk group for important STIs. It seems necessary that continuous interventions for preventing HIV/AIDS and other STIs and for improving the level of knowledge of symptoms are needed

Surgical treatment of early breast cancer in day surgery

Quadrantectomy and associated sentinel lymph node biopsy (SLNB) is currently employed in most breast surgery centres as the gold standard in the treatment of early breast cancer. This approach has a modest morbidity and can usually be performed in a day-surgery regimen, leading to best acceptance by the patients. This reports outlines the experience of our Breast Unit with quadrantectomy and SLNB in day surgery for early breast cancer. One hundred patients presenting to our institution with primary invasive breast cancer measuring less than 3 cm and clinically negative axillary nodes underwent quadrantectomy and SLNB in day surgery. For 60 women with breast cancer the sentinel node was negative, so the only definitive surgical treatment was performed in the day-surgery regimen; 40 patients with positive sentinel nodes were hospitalised a second time for axillary dissection. In these patients that needed clearance of the axilla, SLNB was performed on the only positive node in 22 cases (55%). None of the patients admitted for quadrantectomy and SLNB in day surgery required re-hospitalisation after discharge. All patients proved to be fully satisfied with early discharge from hospital when questioned on the occasion of subsequent monitoring. Short-stay surgical programs in early invasive breast cancer treatment are feasible today owing to the availability of less invasive approaches such as quadrantectomy and SLNB. There are two main pointers to a distinct advantage for this kind of approach, i.e. recovery and psychological adjustment. Recovery from surgery is faster and the patient tends to play down the seriousness of the operation and to have a better mental attitude to neoplastic disease. Moreover, when performing quadrantectomy with SLNB in day surgery fewer than 50% of breast cancer patients (40% in our experience) require another surgical treatment, concluding the surgery in a single sessio

Rapid spatio-temporal flood modelling via hydraulics-based graph neural networks

Numerical modelling is a reliable tool for flood simulations, but accurate solutions are computationally expensive. In recent years, researchers have explored data-driven methodologies based on neural networks to overcome this limitation. However, most models are only used for a specific case study and disregard the dynamic evolution of the flood wave. This limits their generalizability to topographies that the model was not trained on and in time-dependent applications. In this paper, we introduce shallow water equation–graph neural network (SWE–GNN), a hydraulics-inspired surrogate model based on GNNs that can be used for rapid spatio-temporal flood modelling. The model exploits the analogy between finite-volume methods used to solve SWEs and GNNs. For a computational mesh, we create a graph by considering finite-volume cells as nodes and adjacent cells as being connected by edges. The inputs are determined by the topographical properties of the domain and the initial hydraulic conditions. The GNN then determines how fluxes are exchanged between cells via a learned local function. We overcome the time-step constraints by stacking multiple GNN layers, which expand the considered space instead of increasing the time resolution. We also propose a multi-step-ahead loss function along with a curriculum learning strategy to improve the stability and performance. We validate this approach using a dataset of two-dimensional dike breach flood simulations in randomly generated digital elevation models generated with a high-fidelity numerical solver. The SWE–GNN model predicts the spatio-temporal evolution of the flood for unseen topographies with mean average errors in time of 0.04 m for water depths and 0.004 m2 s−1 for unit discharges. Moreover, it generalizes well to unseen breach locations, bigger domains, and longer periods of time compared to those of the training set, outperforming other deep-learning models. On top of this, SWE–GNN has a computational speed-up of up to 2 orders of magnitude faster than the numerical solver. Our framework opens the doors to a new approach to replace numerical solvers in time-sensitive applications with spatially dependent uncertainties.</p

A REST-based framework to support non-invasive and early coeliac disease diagnosis

The health sector has traditionally been one of the early adopters of databases, from the most simple Electronic Health Record (formerly Computer-Based Patient Record) systems in use in general practice, hospitals and intensive care units to big data, multidata based systems used to support diagnosis and care decisions. In this paper we present a framework to support non-invasive and early diagnosis of coeliac disease. The proposed framework makes use of well-known technologies and techniques, both hardware and software, put together in a novel way. The main goals of our framework are: (1) providing users with a reliable and fast repository of a large amount of data; (2) to make such repository accessible by means of a suitable API in multiple modes, such as intuitive web-based or mobile visual interfaces; (3) to allow for data processing and analysis, as a basis for decision support systems