EPIRARE survey on activities and needs of rare disease registries in the European Union

The EPIRARE project[1] aims to build consensus and synergies for the development of an EU platform for rare disease registries and to address relevant regulatory, ethical and technical issues associated with the registration of rare disease patients. To this aim, a survey was carried out among existing rare disease registries and databases to get information on their objectives, needs, governance mechanisms, sustainability, and measures for the compliance with regulatory and ethical requirements and for quality assurance, as well as expectations from and opinions on a registry platform. Responses were received from 255 registries, of which 220 active registries were selected based on the completeness of the response. Among responding registries, 18, 61, 17 and 3% were international, national, regional or local. The fraction of registries population based, hospital based and following case series or cohorts was, respectively 56, 23 and 20%. Epidemiological and clinical researches were the most declared scopes (respectively 71, 61% in a multiple answer question) and characterized two clearly different clusters of registries. Treatment efficacy and safety was the scope indicated by 45% registries. A wide heterogeneity is found regarding the disease coding system used, with 62% using their own or no code. Twenty-seven percent registries are established by law or to comply with regulatory requirements, while 73% as part of research projects or as an autonomous decision of clinicians or patients. Half of the registries shares data with other registries and 33% with centres of expertise, while 30% do not exchange with neither of them or with bio banks. Registries were established with no initial funding (21%) or with funding by public authorities (37%), industries and foundations (21%), research institutes and hospitals (25%), patients associations (16%) and the European Commission (15%). After the initial phase, more registries (25%) are run without specific funding; frequency of funding sources remains stable but for the European Commission, which decreases to 6%. Different procedures are applied for quality assessment, but each of them is applied by 46-58% registries. A main governing body is not present in 34% registries and 48% registries have no policy to ensure long-term sustainability. Main needs expressed are financial support, improved communication strategies and more extended geographical coverage, data sources and registry networking. The vast majority of respondents (80%) is favourable to a platform for registries and 60% doubts that new legislation can facilitate registration. Popularly expected platform services are technological tools, specific expert advice and resources

Decomposizione della lignina in lettiere di aghifoglie e latifoglie incubate in una foresta temperata e in una foresta boreale

In questa ricerca è stata seguita la dinamica della lignina durante la decomposizione delle lettiere di Populus tremula L. (foglie verdi e brune), Betula pubescens Ehrh., Pinus contorta L., Pinus pinea L., e Pinus sylvestris L. (foglie verdi e brune) incubate in due differenti condizioni climatiche, in una abetina sul Monte Taburno (Italia) e in una foresta boreale a Jädraås (Svezia). I risultati mostrano che le sette lettiere presentano modelli diversi di degradazione della lignina e che le condizioni dei due siti ne regolano la velocità di decomposizione e la concentrazione nel peso residuo. In P. tremula L., foglie verdi, la degradazione della lignina a Jädraås inizia fin dalle prime fasi di decomposizione della lettiera. Nelle altre lettiere si osserva una fase di accumulo prima della fase di decomposizione; quest’ultima è sempre più veloce a Jädraås. La concentrazione di lignina nella lettiera residua negli stadi avanzati di decomposizione è sempre più elevata nelle lettiere incubate al Monte Taburno. I risultati della ricerca indicano che le condizioni ambientali influenzano la degradazione della lignina e esercitano un importante controllo sull’accumulo di carbonio nel suolo

Rapid decline of fasting glucose in HCV diabetic patients treated with direct-acting antiviral agents

Association between HCV infection and diabetes has been widely postulated. Little is known about the impact of direct acting antiviral agents (DAAs) on glycemic control. Aim of our study was to evaluate the glycemic control modifications in a case series of HCV+ diabetic population receiving DAAs. We retrospectively evaluated 149 HCV+ patients in two different institutions affiliated to the Sapienza University: Policlinico Umberto I of Rome and Ospedale Santa Maria Goretti of Latina. We were able to identify 29 patients with T2DM (19% of total population) who were receiving different IFN-free regimens. During-treatment fasting glucose values were available for 21 patients and analysis showed a statistically significant reduction (p=0,007), the reduction mean value was -52,86 mg/dl. An A1C value during treatment (week 4 or week 8 or week 12) was available for 10 patients and the analysis showed a statistically significant reduction (p=0,021) with a reduction mean value of -1,95%. 6 patients (23%) needed to reduce hypoglycemic drugs, 8 of 10 patients showed reduction of A1C, 14 of 21 patients (67%) showed reduced FG during treatment. FG and A1C reductions values were independent from which DAA was present in the regimen, HCV genotype, BMI and HIV status. In order to avoid hypoglycemic events, diabetic patients undergoing DAAs should be closely monitorized for reduction of hypoglycemic drugs. Furthermore, diabetes could be considered, in our opinion, as an element to prioritize treatment in those patients with no apparent liver disease

The Italian National Rare Diseases Registry.

INTRODUCTION:Rare disease registries are a priority at European level and specific actions are being implemented by the European Commission to support their development.In Italy, a National Registry of rare diseases has been established in 2001 as a network of regional registries. The latter have gradually been established and the full coverage of the Italian territory was attained during 2011. METHODS:Here we describe the basic features of the National Registry of rare diseases; the activities carried out to promote consistent operations in the regional registries; and the overall quality and composition of the records collected. RESULTS:After a validation process, including removal of duplicate records, 110,841 records of patients with rare diseases, single and with group denominations, are stored in the National Registry of rare diseases. They correspond to the overall diagnoses communicated to national registry by regional registries up to 30 June 2012.The quality of the data collected by the the National Registry of rare diseases has been assessed with respect to completeness and consistency of procedures. Variables characterising case and diagnosis showed a very limited number of missing values. Records reported at least one case of 485 rare conditions. DISCUSSION:To date, the National Registry of rare diseases is a surveillance system with the main objective of producing epidemiologic evidence on rare diseases in Italy, and of supporting policy making and health services planning.Data quality still represents a limitation for any sound epidemiological estimate of rare diseases in Italy. However, improvements of the quality of collected data and the completeness of case notifications should be strengthened.

The Italian approach to rare diseases and the action of the Italian National Centre for Rare Diseases

The European Commission, recognizing that a number of healthcare and knowledge issues are common to allrare diseases in spite of the wide variety of their clinical manifestation, has recently initiated the promotionof national plans and comprehensive strategies for improving the provision of care to rare disease patients.In Italy, for some time, a number of coordinated initiatives have been undertaken at National and Regionallevel in order to provide quality care to rare disease patients. Some of these initiatives anticipate therecommendations at the European Union level.A key legal instrument has been the Ministerial Decree 279/2001 which established, with the collaboration ofthe Regions, the national network for the surveillance, diagnosis, treatment and cost exemption for rarediseases. Other regulations facilitate access to drugs and to assistance for the disabilities associated withrare diseases. More recently specific initiatives have been adopted to foster research on rare diseases and theinvolvement of patients in decision making regarding rare diseases.Another key step in the development of an effective strategy to tackle rare diseases in Italy, has been theestablishment of the National Centre for Rare Diseases. The Centre is currently developing a wide variety ofinitiatives: some contribute to the full implementation of the national legislative provisions and to thecoordination of activities among the Regions; others aim to develop autonomous initiatives within its missionof research, provision of technical expertise and documentation as well as information on rare diseases

El emperador Adriano y Egipto. Observaciones sobre las perspectivas míticas y religiosas

The aim of these remarks is to bring to light some particular aspects in the enig­matic religious, mythological and ideolog­ical system inspired by Egypt, built into the Hadrianic environment, and the inter­cultural commitment, to which special­ists of heterogeneous origin, and therefore also Egyptians, probably contributed. The phoenix is taken into account as image of the renovation of kingship, as well as other figures expressing the regenerating transfer of royalty in an Egyptian cyclic perspective.El objetivo de estas anotaciones es traer a la luz algunos aspectos particulares del sistema religioso, enigmático, mitológico e ideológico inspirado por Egipto, construido en el entorno adrianeo, y la relación inter­cultural, en la que probablemente contribu­yeron especialistas de origen hetereogéneo y por lo tanto también egipcios. El fenix es tenido en cuenta como imagen de renova­ción de la realeza, así como otras figuras que expresan la transferencia regenerativa de la realeza en una perspectiva cíclica Egipcia