Expression and Biological Functions of miRNAs in Chronic Pain: A Review on Human Studies

none10noChronic pain is a major public health problem and an economic burden worldwide. However, its underlying pathological mechanisms remain unclear. MicroRNAs (miRNAs) are a class of small noncoding RNAs that post-transcriptionally regulate gene expression and serve key roles in physiological and pathological processes. This review aims to synthesize the human studies examining miRNA expression in the pathogenesis of chronic primary pain and chronic secondary pain. Additionally, to understand the potential pathophysiological impact of miRNAs in these conditions, an in silico analysis was performed to reveal the target genes and pathways involved in primary and secondary pain and their differential regulation in the different types of chronic pain. The findings, methodological issues and challenges of miRNA research in the pathophysiology of chronic pain are discussed. The available evidence suggests the potential role of miRNA in disease pathogenesis and possibly the pain process, eventually enabling this role to be exploited for pain monitoring and management.Sabina S.; Panico A.; Mincarone P.; Leo C.G.; Garbarino S.; Grassi T.; Bagordo F.; De Donno A.; Scoditti E.; Tumolo M.R.Sabina, S.; Panico, A.; Mincarone, P.; Leo, C. G.; Garbarino, S.; Grassi, T.; Bagordo, F.; De Donno, A.; Scoditti, E.; Tumolo, M. R

RARE-Bestpractices: a platform for sharing best practices for the management of rare diseases

From 7th European Conference on Rare Diseases and Orphan Products (ECRD 2014).Rare diseases; clinical practice guidelines; recommendations. RARE-Bestpractices (http://www.rarebestpractices.eu) is a 4-year project (2013-2016) funded by the EC FP7. The project aims at improving clinical management of patients with rare diseases (RD) and at narrowing the existing gap in quality of healthcare among countries. Methods: RARE-Bestpractices (http://www.rarebestpractices.eu) involves 9 EU countries, including 15 partners from academic institutions, governmental bodies, patient organizations and networks, which will exploit the added value of integrating different contributions and viewpoints. The platform is developed involving both experts in RD research as well as experts in clinical practice guidelines (CPG) and systematic reviews. Results: Project expected outputs include: 1) identification of challenges to be considered in deriving high quality standards for CPG on RD; 2) transparent procedures and criteria for the evaluation of CPG and their collection in a publicly searchable database; 3) identification of notation criteria to improve user understandability and implementation of CPG; 4) production of mechanisms to assess RD clinical research needs; 5) development of training activities targeted to key stakeholders to disseminate process and tools for developing and evaluating CPG; 6) the publication of a new scientific journal (http://rarejournal.org). Discussion: RARE-Bestpractices addresses the demands from both patients and health care providers for updated and high quality CPG on RD. The project will meet the requirements laid down by to the Directive 2011/24/EU, which endorses EU MS to develop European Reference Networks (ERNs) for RD; in fact, one main criterion for ERNs should be the competence to produce CPG and actively disseminate them among Centers of Expertise.N

Photography-based taxonomy is inadequate, unnecessary, and potentially harmful for biological sciences

The question whether taxonomic descriptions naming new animal species without type specimen(s) deposited in collections should be accepted for publication by scientific journals and allowed by the Code has already been discussed in Zootaxa (Dubois & Nemésio 2007; Donegan 2008, 2009; Nemésio 2009a–b; Dubois 2009; Gentile & Snell 2009; Minelli 2009; Cianferoni & Bartolozzi 2016; Amorim et al. 2016). This question was again raised in a letter supported by 35 signatories published in the journal Nature (Pape et al. 2016) on 15 September 2016. On 25 September 2016, the following rebuttal (strictly limited to 300 words as per the editorial rules of Nature) was submitted to Nature, which on 18 October 2016 refused to publish it. As we think this problem is a very important one for zoological taxonomy, this text is published here exactly as submitted to Nature, followed by the list of the 493 taxonomists and collection-based researchers who signed it in the short time span from 20 September to 6 October 2016

Personalised medicine in paediatrics: individualising treatment in children with rare neurological diseases

The development of personalised medicine is of considerable importance for paediatric patient populations, and represents a move away from the use of treatment dosages based on experience with the same compounds in adults. Currently, however, we know little about developmental pharmacogenomics and, although many biomarkers are available for clinical research use, there have been few applications in the management of paediatric diseases. This paper reviews where we are in the journey towards achieving paediatric personalised medicine and describes a group of diseases requiring such an approach. The personalised medicine approach is particularly relevant for the treatment of rare childhood diseases, and the group of life-threatening neurological disorders known as lysosomal storage diseases represents a potential study population. The genetic bases of these disorders are generally well defined, there is the potential for diagnosis at birth or prenatally, and there are a range of therapeutic options available or under development

Reimbursed Price of Orphan Drugs: A Value Based Framework

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Healthcare and economic impact of lung perfusion scintigraphy in patients affected by acute pulmonary embolism

Acute pulmonary embolism (APE) is a cardiovascular emergency, representing the main cause of mortality, morbidity, and hospitalisation in Europe. We aim to evaluate the economic and healthcare impact of lung perfusion scintigraphy (LPS) used in patients with suspected APE, in the event of non-conclusive or contraindicated computed tomography pulmonary angiography (CTPA). We considered two alternative healthcare processes for APE diagnosis, with and without LPS. We performed a cost analysis with the aim of evaluating the average direct healthcare costs for diagnosis, risk assessment, and treatment of APE. We used data from a monocentric trial. Our economic model showed that the strategy with LPS was preferable in terms of costs. The average per-patient costs for the diagnosis and treatment of the acute phase of PE in low-risk patients with a non-conclusive or not-executable CTPA, with and without LPS, are EUR 2145.25 and EUR 4912.45, respectively. LPS is a simple, quick, and economic examination, useful in this setting of patients not only for an early diagnosis but also to exclude APE, demonstrating an advantage in terms of healthcare resources. To the best of our knowledge, this study is the first to analyse the economic and healthcare impact of the use of LPS in the diagnostic pathway of suspected APE