Survey of Italian pediatricians on awareness, experiences and beliefs regarding direct-to-consumer genetic testing in minors

Background: Our study wanted to assess Italian pediatricians’ awareness, experience and beliefs regarding directto- consumer (DTC) genetic tests (GT) in minors, with a focus on those for predisposition to complex disease, lyfestyle, athletic ability and other inborn talents. Methods: A 28-item questionnaire was administered through the SurveyMonkey® web platform to the 9,086 members of the Italian Society of Pediatrics for which a valid email address was available. The survey was opened from April through November 2017. Statistical analyses were performed using the Graphpad software package. Results: 36.2% of the 442 respondents were aware of DTC-GT, but only 23.1% of them felt adequately prepared to meet families’ information needs. The first three sources of knowledge were the Internet (20.98%), magazines/ newspapers (16.78%) and TV/Radio (14.33%), while companies’ direct marketing activity influenced knowledge only in 2.45% of the cases. Only 16.4% of the aware respondents had been already approached for advice. More than 95% of the pediatricians who were aware would not advise DTC-GT for lifestyle, athletic performance or other inborn skills. 69.2% was unfavourable to susceptibility tests for complex diseases. Most of them expressed an interest in learning more and indicated as preferred sources of information public policies issued by professional societies. Conclusion: The low awareness and experience and the vendors’ tiny contribution to knowledge suggest a still limited penetration of DTC-GT companies in Italy. A great interest in learning more was found. Scientific societies are best positioned to support health professionals in this educational goal thanks to their role of trusted sources of information and guidance

Polyamines and Gut Microbiota

The microbiota of gut is the community of microbes living in an individual's gastrointestinal tract. Several bacterial genera and species act in a concerted manner to establish metabolic interactions with the host (1). Although there is a general high interest in the study of metabolite flow across the microbe-host, at present, only some studies are targeting specific metabolites produced by intestinal microbiota such as polyamines (PAs

XAV939-mediated ARTD activity inhibition in human MB cell lines

Diphtheria toxin-like ADP-ribosyltransferases 1 and 5 (ARTD-1, ARTD-5) are poly ADP-ribose enzymes (PARP) involved in non-homologous end-joining (NHEJ), which is the major pathway of double-strand break (DSB) repair. In addition, ARTD-5, or Tankyrase (TNKS), is a positive regulator of the WNT signaling implicated in the development and biological behavior of many neoplasms, such as Medulloblastoma (MB), in which radiotherapy is an essential part of the treatment. The use of radiosensitizing agents may improve the therapeutic index in MB patients by increasing the efficacy of radiotherapy, while reducing toxicity to the neuroaxis. ARTD-5 seems to be a good molecular target for improving the current treatment of MB. In this study, we used the small molecule XAV939, a potent ARTD-5 inhibitor with a slight affinity for ARTD-1, in different human MB cell lines. XAV939 inhibited the WNT pathway and DNA-PKcs in our MB cells, with many biological consequences. The co-administration of XAV939 and ionizing radiations (IR) inhibited MB cells proliferation and clonogenic capacity, decreased their efficacy in repairing DNA damage, and increased IR-induced cell mortality. In conclusion, our in vitro data show that XAV939 could be a very promising small molecule in MB treatment, and these results lay the basis for further in vivo studies with the aim of improving the current therapy available for MB patients

A new bursting X-ray transient: SAX J1750.8-2900

We have analysed in detail the discovery measurements of the X-ray burster SAX J1750.8-2900 by the Wide Field Cameras on board BeppoSAX in spring 1997, at a position ~1.2 degrees off the Galactic Centre. The source was in outburst on March 13th when the first observation started and showed X-ray emission for ~ 2 weeks. A total of 9 bursts were detected, with peak intensities varying from ~ 0.4 to 1.0 Crab in the 2-10 keV range. Most bursts showed a fast rise time (~ 1s), an exponential decay profile with e-folding time of ~ 5s, spectral softening during decay, and a spectrum which is consistent with few keV blackbody radiation. These features identify them as type-I X-ray bursts of thermonuclear origin. The presence of type-I bursts and the source position close to the Galactic Centre favours the classification of this object as a neutron star low mass X-ray binary. X-ray emission from SAX J1750.8-2900 was not detected in the previous and subsequent Galactic bulge monitoring, and the source was never seen bursting again.Comment: 13 pages, 3 Postscript figures, aaspp4 styl

In vitro evaluation of caseinophosphopeptides from different genetic variants on bone mineralization

Casein phosphopeptides (CPPs) have been shown to enhance calcium solubility and to increase the calcification by in vitro analyses. The aim of our study was to investigate the effects of four selected casein peptides, which differ in the number of phosphorylated serines, on osteoblast mineralization in vitro. The chosen peptides, related to different casein genetic variants, were obtained by chemical synthesis and tested on murine osteoblast cell line (MC3T3-E1). Our results suggest that the distinct peptides in protein hydrolysates may differentially affect calcium deposition in the extracellular matrix and that the genetic variation within the considered peptides is involved in their differential effect

Milk and butter. From the Neolithic to the current nutritional aspects

The evolution in the history of nutrition knowledge towards dairy products, is strictly related to the socio-cultural development of humans. In fact, milk and butter have accompanied humans since ancient times, which traces of the consumption of such products are dated back about the earliest times after the last (glaciation) ice age, while the application for extra nutritional uses, such as cosmetics and ceremonial rites, are reported in the writings of the Old Testament. Even in Italy, before the Roman Empire, were known rudimentary techniques of production and storage of dairy products. But only with the advent of the Etruscans, and the Romans later, that the use of milk and dairy products reach a wide diffusion in several applications. Since the advent of Christ until today, milk and its derivatives have maintained a privileged place in the human diet, but it is only with the advent of modern medicine and new findings in lipidic chemistry that emerged multiple biological and nutritional properties, very important for human health. After a short summary of the ancient history of the milk and butter, the role of dairy products in cancer, in hypercholesterolemia, and cardiovascular disease are reported. Moreover, the current opinions on saturated fatty acids, the role of polyunsaturated fatty acids and their lipid mediators obtained by the action of cyclooxygenase, lipoxygenase and the cytochrome P450 enzymes, are treated. Even if sometimes mistreated, the milk, but most of all its high fat content derivatives such as butter, is a rich source of biologically active compounds that foster a controversial action against neolplastic and cardiovascular disease. These compounds, mainly contained in the lipid fraction, for the more obvious relationships that exist between nutrition and health status, have been the subject in the last decades of intense scientific investigation in which there were expressed lights and shadows, but recognizing that not all fats are harmful and further thorough studies are necessary, in particular, on the derived lipid mediators. This will allow a significant progress based on new scientific evidences, further orienting researchers and clinicians on evidencebased nutritional science

Gli statistici italiani e la "questione della razza"

Ricostruzione del contributo di statistici e demografi alla preparazione dei provvedimenti discriminatori del 1938 e degli effetti di questi sull'articolazione accademica e scientifica della disciplina

Chemical Characterization and Temporal Variability of Pasta Condiment By-Products for Sustainable Waste Management

Sustainable waste management is an extremely important issue due to its environmental, economic, and social impacts. Knowledge of the chemical composition of the waste produced is a starting point for its valorization. This research focuses, for the first time, on the by-products of pasta condiment production, starting with their characterization. In particular, the presence of potential bioactive compounds and their variability over time have been studied. The latter aspect is crucial for the subsequent valorization of these by-products. In addition to acidity and total phenolic content, an untargeted strategy was adopted, using spectroscopic and chromatographic techniques coupled with chemometrics, to study waste samples coming from four single condiment production lines, i.e., Genoese pesto, tomato, ricotta, and rag & ugrave; sauces. The presence of lycopene, polyphenols, and several valuable volatile compounds was highlighted. Their presence and relative amounts vary mainly according to the presence of tomatoes in the sauce. The results obtained at different storage times (after 0, 7, 10, and 15 days) showed that the samples studied, despite having similar chemical characteristics, underwent changes after one week of storage and then presented a relatively stable chemical profile. A general decrease is observed after 7 days for almost all the chemical variables monitored, so careful planning within the first days is required to obtain a high recovery

Hepatocellular Carcinoma Metastasis to the Orbit in a Coinfected HIV+ HBV+ Patient Previously Treated with Orthotopic Liver Transplantation: A Case Report

Hepatocellular carcinoma rarely metastasizes to the orbit. We report a 45-year-old male, HBV+, HIV+, with a past history of a liver transplant for ELSD (end-stage liver disease) with hepatocellular carcinoma and recurrent HCC, who presented with proptosis and diplopia of the left eye. CT scans of the head revealed a large, irregular mass in the left orbit causing superior and lateral destruction of the orbital bone. Biopsy specimens of the orbital tumor showed features of metastatic foci of hepatocellular carcinoma. Only 16 other cases of HCC metastasis to the orbit have been described in literature, and this is the first case in a previously transplanted HIV+, HBV+ patient