E-Learning for Rare Diseases: An Example Using Fabry Disease

Rare diseases represent a challenge for physicians because patients are rarely seen, and they can manifest with symptoms similar to those of common diseases. In this work, genetic confirmation of diagnosis is derived from DNA sequencing. We present a tutorial for the molecular analysis of a rare disease using Fabry disease as an example

Clinical management of severe active ulcerative colitis in the TNF-a inhibitors era

Ulcerative colitis (UC) is a chronic inflammation of the coli mucosa clinically characterized by bloody diarrhea, abdominal pain and other systemic symptoms. The onset, as well as subsequent relapses, may occur with varying degrees of clinical and endoscopic activity and extent of disease. The clinical and endoscopic activity varies from mild to severe, while the extent of disease, without interruption, may involve from the rectum up to the entire colon. The severe form, when not properly and promptly treated, can be life-threatening and may determine various complications requiring urgent surgical treatment. Early recognition of severe forms, their treatment and patient monitoring can reduce morbidity and mortality, and improve surgical outcome. Since the 1950s, systemic corticosteroids have been the first-line treatment in severe active UC. Today, appropriate patient monitoring, and recognition of clinical, radiological and laboratory findings indicative of steroid failure guide the clinician in the use of immunomodulatory drugs or suggest indications for surgery. The aim of our study is to review the more recent data and guidelines that could be useful in clinical practice for the management of severe UC. © Copyright A. Calafiore et al., 2013

Epidemiology of Musculoskeletal Injuries in Adult Athletes: A Scoping Review

Background and Objectives: Sport-related musculoskeletal injuries (MSK-Is) are a common health issue in athletes that can lead to reduced performance. The aim of this scoping review was to synthetize available evidence on injury incidence rates (IIRs), types, and sites that affect the musculoskeletal (MSK) system of adult athletes. Materials and Methods: We performed a scoping review on the Pubmed database limiting our search to 33 Olympic sports. Results: We identified a total of 1022 papers, and of these 162 were examined in full for the purpose of this review. Archery was the sport with the highest risk of injuries to the upper extremities, marathons for the lower extremities, and triathlon and weightlifting for the body bust. In the majority of the sports examined, muscle/tendon strain and ligament sprain were the most common MSK-Is diagnoses, while athletics, karate, and football were the sports with the highest IIRs, depending on the methods used for their calculations. Conclusions: Our scoping review highlighted the general lack and dishomogeneity in the collection of data on MSK-Is in athletes

Expression and potential role of the peptide orexin-A in prostate cancer

The peptides orexin-A and orexin-B and their G protein-coupled OX1 and OX2 receptors are involved in multiple physiological processes in the central nervous system and peripheral organs. Altered expression or signaling dysregulation of orexins and their receptors have been associated with a wide range of human diseases including narcolepsy, obesity, drug addiction, and cancer. Although orexin-A, its precursor molecule prepro-orexin and OX1 receptor have been detected in the human normal and hyperplastic prostate tissues, their expression and function in the prostate cancer (PCa) remains to be addressed. Here, we demonstrate for the first time the immunohistochemical localization of orexin-A in human PCa specimens, and the expression of prepro-orexin and OX1 receptor at both protein and mRNA levels in these tissues. Orexin-A administration to the human androgen-dependent prostate carcinoma cells LNCaP up-regulates OX1 receptor expression resulting in a decrease of cell survival. Noteworthy, nanomolar concentrations of the peptide counteract the testosterone-induced nuclear translocation of the androgen receptor in the cells: the orexin-A action is prevented by the addition of the OX1 receptor antagonist SB-408124 to the test system. These findings indicate that orexin-A/OX1 receptor interaction interferes with the activity of the androgen receptor which regulates PCa onset and progression, thus suggesting that orexin-A and its receptor might represent novel therapeutic targets to challenge this aggressive cancer

A failure mode and effect analysis (FMEA)-based approach for risk assessment of scientific processes in non-regulated research laboratories

AbstractNowadays, Quality Management tools such as failure mode and effect analysis (FMEA) are widely used throughout the aeronautical, automotive, software, food services, health care and many other industries to sustain and improve quality and safety. The increasing complexity of scientific research makes it more difficult to maintain all activities under control, in order to guarantee validity and reproducibility of results. Even in non-regulated research, scientists need to be supported with management tools that maximize study performance and outcomes, while facilitating the research process. Frequently, steps that involve human intervention are the weak links in the process. Risk analysis therefore gives considerable benefit to analytical validation, assessing and avoiding failures due to human error, potential imprecision in applying protocols, uncertainty in equipment function and imperfect control of materials. This paper describes in detail how FMEA methodology can be applied as a performance improvement tool in the field of non-regulated research, specifically on a basic Life Sciences research process. We chose as "pilot process" the selection of oligonucleotide aptamers for therapeutic purposes, as an example of a complex and multi-step process, suitable for technology transfer. We applied FMEA methodology, seeking every opportunity for error and its impact on process output, and then, a set of improvement actions was generated covering most aspects of laboratory practice, such as equipment management and staff training. We also propose a useful tool supporting the risk assessment of research processes and its outputs and that we named "FMEA strip worksheet." These tools can help scientists working in non-regulated research to approach Quality Management and to perform risk evaluation of key scientific procedures and processes with the final aim to increase and better control efficiency and efficacy of their research

Understanding Knowledge and Behaviors Related to CoViD−19 Epidemic in Italian Undergraduate Students: The EPICO Study

Background: On February 2020, the novel coronavirus (2019nCoV) epidemic began in Italy. In order to contain the spread of the virus, the Italian government adopted emergency measures nationwide, including closure of schools and universities, workplaces and subsequently lockdown. This survey was carried out among Italian undergraduates to explore their level of knowledge about the epidemic and the behaviors they adopted during the lockdown. Methods: An electronic questionnaire was administered to the students attending three Italian universities. Results: A good level of knowledge about the epidemic and its control was registered in the sample, mainly among students attending life sciences degree courses. The majority of the students did not modify their diet and smoking habits, while a great part of the sample reported a decrease in physical activity (PA). Conclusions: Students from life sciences courses showed a higher awareness regarding the infection and the control measures. The lockdown caused an important reduction of PA. Preventive interventions should transform the restrictive measures also as an opportunity to improve lifestyle

Knowledge and Acceptance of COVID-19 Vaccination among Undergraduate Students from Central and Southern Italy

At the end of 2020, the Italian Ministry of Health launched a national vaccination campaign to counteract the COVID-19 pandemic. The present study aimed at appraising levels of knowledge about and acceptance of COVID-19 vaccination in a sample of Italian undergraduates during the first phase of the immunization plan. A web-based questionnaire was administered to students attending universities in Bari, Naples, and Rome during the period February-April 2021. Of the total of 3226 participants, 91.9% were keen to receive a COVID-19 vaccination. More than 80% gave correct answers to questions about COVID-19 vaccine administration, functioning, and effects on community health. However, only 63.8% identified the correct composition of the available vaccines. Knowledge was found to be related to sociodemographic features and COVID-19 vaccination acceptance (p < 0.05). COVID-19 vaccination acceptance was found to be related to having a previous vaccination against influenza (OR 3.806, CI 95% 1.181-12.267; p = 0.025) and knowledge (OR 4.759, CI 95% 2.106-10.753; p = 0.000). These results show a good level of awareness about COVID-19 vaccination in this population, which may indicate the effectiveness of communication strategies accompanying the COVID-19 immunization campaign in Italy

Fungal microbiota dysbiosis in IBD.

International audienceThe bacterial intestinal microbiota plays major roles in human physiology and IBDs. Although some data suggest a role of the fungal microbiota in IBD pathogenesis, the available data are scarce. The aim of our study was to characterise the faecal fungal microbiota in patients with IBD. Bacterial and fungal composition of the faecal microbiota of 235 patients with IBD and 38 healthy subjects (HS) was determined using 16S and ITS2 sequencing, respectively. The obtained sequences were analysed using the Qiime pipeline to assess composition and diversity. Bacterial and fungal taxa associated with clinical parameters were identified using multivariate association with linear models. Correlation between bacterial and fungal microbiota was investigated using Spearman's test and distance correlation. We observed that fungal microbiota is skewed in IBD, with an increased Basidiomycota/Ascomycota ratio, a decreased proportion of Saccharomyces cerevisiae and an increased proportion of Candida albicans compared with HS. We also identified disease-specific alterations in diversity, indicating that a Crohn's disease-specific gut environment may favour fungi at the expense of bacteria. The concomitant analysis of bacterial and fungal microbiota showed a dense and homogenous correlation network in HS but a dramatically unbalanced network in IBD, suggesting the existence of disease-specific inter-kingdom alterations. Besides bacterial dysbiosis, our study identifies a distinct fungal microbiota dysbiosis in IBD characterised by alterations in biodiversity and composition. Moreover, we unravel here disease-specific inter-kingdom network alterations in IBD, suggesting that, beyond bacteria, fungi might also play a role in IBD pathogenesis