In the current period of global public health crisis due to the COVID-19, healthcare workers are more exposed to physical and mental exhaustion – burnout – for the torment of difficult decisions, the pain of losing patients and colleagues, and the risk of infection, for themselves and their families. The very high number of cases and deaths, and the probable future “waves” raise awareness of these challenging working conditions and the need to address burnout by identifying possible solutions. Measures have been suggested to prevent or reduce burnout at individual level (physical activity, balanced diet, good sleep hygiene, family support, meaningful relationships, reflective practices and small group discussions), organizational level (blame-free environments for sharing experiences and advices, broad involvement in management decisions, multi-disciplinary psychosocial support teams, safe areas to withdraw quickly from stressful situations, adequate time planning, social support), and cultural level (involvement of healthcare workers in the development, implementation, testing, and evaluation of measures against burnout). Although some progress has been made in removing the barrier to psychological support to cope with work-related stress, a cultural change is still needed for the stigma associated with mental illness. The key recommendation is to address the challenges that the emergency poses and to aggregate health, well-being and behavioral science expertise through long term researches with rigorous planning and reporting to drive the necessary cultural change and the improvement of public health systems.

Rare diseases are a global public health priority; they can cause significant morbidity and mortality, can gravely affect quality of life, and can confer a social and economic burden on families and communities. These conditions are, by their nature, encountered very infrequently by clinicians. Thus, clinical practice guidelines are potentially very helpful in supporting clinical decisions, health policy and resource allocation. The Grading of Recommendations Assessment, Development and Evaluation (GRADE) system is a structured and transparent approach to developing and presenting summaries of evidence, grading its quality, and then transparently interpreting the available evidence to make recommendations in health care. GRADE has been adopted widely. However, its use in creating guidelines for rare diseases – which are often plagued by a paucity of high quality evidence – has not yet been explored. RARE-Bestpractices is a project to create and populate a platform for sharing best practices for management of rare diseases. A major aim of this project is to ensure that European Union countries have the capacity to produce high quality clinical practice guidelines for rare diseases. On February 12, 2013 at the Istituto Superiore di Sanità, in Rome, Italy, the RARE-Bestpractices group held the first of a series of 2 workshops to discuss methodology for creating clinical practice guidelines, and explore issues specific to rare diseases. This paper summarizes key results of the first workshop, and explores how the current GRADE approach might (or might not) work for rare diseases. Avenues for future research are also identified.

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Both the notation and the language could increase the clarity of presentation thanks to their visual properties, the capacity of easily managing macro and micro scenarios, the possibility of clearly and precisely representing the process logic. Both could increase guidelines/pathways applicability by representing complex scenarios through charts and algorithms hence contributing to reduce unjustified practice variations which negatively impact on quality of care and patient safety.

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The term ‘lifestyle’ includes different factors that contribute to the maintenance of a good health status. Increasing evidences suggest that lifestyle factors may influence epigenetic mechanisms, such as miRNAs expression. The dysregulation of miRNAs can modify the expression of genes and molecular pathways that may lead to functional alterations. This review summarizes human studies highlighting that diet, physical activity, smoking and alcohol consumption may affect the miRNA machinery and several biological functions. Most miRNAs are involved in molecular pathways that influence inflammation, cell cycle regulation and carcinogenesis resulting in the onset or progression of pathological conditions. Investigating these interactions will be pivotal for understanding the etiology of pathologic processes, the potential new treatment strategies and for preventing diseases.

The pricing and reimbursement policies for pharmaceuticals are relevant to balance timely and equitable access for all patients, financial sustainability, and reward for valuable innovation. The proliferation of high-cost specialty medicines is particularly true in rare diseases (RDs) where the pricing mechanism is characterised by a lack of transparency. This work provides an overall picture of current strategies for the definition of the reimbursed prices of orphan drugs (ODs) and highlights some potential improvements. Current strategies and suggestions are presented along 4 dimensions: (1) comprehensive value assessment, (2) early dialogs among relevant stakeholders, (3) innovative reimbursement approaches, and (4) societal participation in producing ODs. Comprehensive value assessment could be achieved by clarifying the approach of distributive justice to adopt, ensuring a representative participation of stakeholders, and with a broad consideration of value-bearing factors. With respect to early dialogs, cross-border cooperation can be determinant to companies and agencies. The cost-benefit ratio of early dialogs needs to be demonstrated and the “regulatory capture” effect should be monitored. Innovative reimbursement approaches were developed to balance the need for evidence-based decisions with the timely access to innovative drugs. The societal participation in producing ODs needs to be recognised in a collaborating framework where adaptive agreements can be developed with mutual satisfaction. Such agreements could also impact on coverage and reimbursement decisions as additional elements for the determination of a comprehensive societal value of ODs. Further research is needed to investigate the highlighted open challenges so that RDs will not remain, in practical terms, orphan diseases.

Smart Breath Analyzers were developed as sensing terminals of a telemedicine architecture devoted to remote monitoring of patients suffering from Chronic Obstructive Pulmonary Disease (COPD) and home-assisted by non-invasive mechanical ventilation via respiratory face mask. The devices based on different sensors (CO2/O2 and Volatile Organic Compounds (VOCs), relative humidity and temperature (R.H. & T) sensors) monitor the breath air exhaled into the expiratory line of the bi-tube patient breathing circuit during a noninvasive ventilo-therapy session; the sensor raw signals are transmitted pseudonymized to National Health Service units by TCP/IP communication through a cloud remote platform. The work is a proof-of-concept of a sensors-based IoT system with the perspective to check continuously the effectiveness of therapy and/or any state of exacerbation of the disease requiring healthcare. Lab tests in controlled experimental conditions by a gas-mixing bench towards CO2/O2 concentrations and exhaled breath collected in a sampling bag were carried out to test the realized prototypes. The Smart Breath Analyzers were also tested in real conditions both on a healthy volunteer subject and a COPD suffering patient.