| 1. |
|
|
| 2. |
|
|
| 3. |
- Taruscio, D, et al.
(författare)
-
EUROPLAN: a project to support the development of national plans on rare diseases in Europe
- 2013
-
Ingår i: Public health genomics. - : S. Karger AG. - 1662-8063 .- 1662-4246. ; 16:6, s. 278-287
-
Tidskriftsartikel (refereegranskat)abstract
- <b><i>Background/Aims:</i></b> National Plans for Rare Diseases (RDs) are the common denominator of current public health policy concerns on RDs across the EU. With the aim of a better distribution of the available resources, they conjugate the European objective that aims at ensuring that patients with RDs have access to high-quality care - including diagnostics, treatment and rehabilitation - with the national priorities of selecting specific measures for adoption and implementation. <b><i>Methods:</i></b> The European Project for Rare Diseases National Plans Development (EUROPLAN, www.europlanproject.eu) is cofunded by the EU Commission (DG-SANCO) and is coordinated by the Italian National Center for Rare Diseases of the Istituto Superiore di Sanità (ISS). The EUROPLAN goal is to promote the implementation of National Plans or Strategies to tackle RDs and share relevant experiences within countries, linking national efforts, through a common strategy at a European level. In order to fulfill these objectives, EUROPLAN involved health authorities, clinicians, scientists, the European Organisation for Rare Diseases (EURORDIS), and many other patient groups as associated and collaborating partners from several European countries. <b><i>Results:</i></b> The project was launched in 2008 and foresaw 2 implementation phases: phase 1 (2008-2011) to build the consensus definition of operational tools (recommendations and indicators), and the ongoing phase 2 (2012-2015), mainly aimed at capacity building with the proactive involvement of multilevel stakeholders. EUROPLAN is facilitating and accelerating the implementation of National Plans in almost all EU and several non-EU Countries. <b><i>Conclusions:</i></b> EUROPLAN is a European and an international process more than a project, and it could be defined as a ‘litmus test' demonstrating how the collaboration between institutions and patients' associations can accelerate the process of awareness and development of policies and actions.
|
|
| 4. |
|
|
| 5. |
|
|
| 6. |
- Lourda, M., et al.
(författare)
-
Detection of IL-17A-producing peripheral blood monocytes in Langerhans cell histiocytosis patients
- 2014
-
Ingår i: Clinical Immunology. - : Elsevier BV. - 1521-6616 .- 1521-7035. ; 153:1, s. 112-122
-
Tidskriftsartikel (refereegranskat)abstract
- Langerhans cell histiocytosis (LCH) is a rare disease of unknown cause with manifestations ranging from isolated granulomatous lesions to life-threatening multi-system organ involvement. This disorder is further characterized by infiltration of immune cells in affected tissues and an association with interleukin (IL)-17A has been reported. Here, we investigated the presence of IL-17A-producing cells among peripheral blood mononuclear cells isolated from LCH patients and observed a high percentage of IL-17A(+) monocytes in peripheral blood of LCH patients compared to controls. The IL-17A(+) monocytes were also positive for the transcription factor retinoic acid orphan receptor (ROR) gamma t and showed increased mRNA levels for both IL-17A and ROR gamma t. Notably, IL-17A was produced by all monocyte subsets and the expression level was positively associated with LCH disease activity. These data support a role for monocytes in the pathogenesis of LCH. Future therapeutic approaches may consider identification of patients who may benefit from IL-17A-targeted interventions. (C) 2014 Elsevier Inc. All rights reserved.
|
|
