Il Registro Toscano delle Malattie Rare

In meno di 10 anni l\u27attenzione per le malattie rare (MR) ha registrato una crescita cos? rapida da costituire un intervento prioritario tra le iniziative di sanit? pubblica. Fin dal 2001 il progetto regionale sulle MR si ? sviluppato in Toscana con la costante e significativa collaborazione delleAssociazioni dei malati, raccolte in un Forum. Si ? costituita una rete regionale di Presidi dedicati alla diagnosi e cura di queste patologie e delle strutture di coordinamento. Al fine di garantire la qualit? dei servizi prestati e l\u27informazione sui servizi erogati la Regione Toscana ha rinnovato il suo impegno sulle MR nel Piano Sanitario Regionale 2008-2010.In meno di 10 anni l\u27attenzione per le malattie rare (MR) ha registrato una crescita cos? rapida da costituire un intervento prioritario tra le iniziative di sanit? pubblica. Fin dal 2001 il progetto regionale sulle MR si ? sviluppato in Toscana con la costante e significativa collaborazione delleAssociazioni dei malati, raccolte in un Forum. Si ? costituita una rete regionale di Presidi dedicati alla diagnosi e cura di queste patologie e delle strutture di coordinamento. Al fine di garantire la qualit? dei servizi prestati e l\u27informazione sui servizi erogati la Regione Toscana ha rinnovato il suo impegno sulle MR nel Piano Sanitario Regionale 2008-2010

Manuale utente - Screening audiologico neonatale (SCRAUN)

not availableLo scopo di questo documento-manuale utente ? di descrivere ad un utente come utilizzare via Internet il Sistema per il Screening Audiologico Neonatale (SCRAUN). Il sistema SCRAUN ? un sistema accessibile via web e costituisce l\u27implementazione della procedura di Screening descritta nel documento "ProgettoScreening.doc" scaricabile dal sito stesso. Il sistema SCRAUN sar? utilizzato da un insieme di utenti autorizzati, facenti parte della rete di neonatologi e di specialisti in otorinolaringoiatria e audiologia del Servizio Sanitario della Toscana, per registrare le nascite e gli esami di screening effettuati e per rilevare eventuali diagnosi di ipoacusia

Amyotrophic Lateral Sclerosis: results from Tuscany Registry of Rare Diseases.

Amyotrophic Lateral Sclerosis: results from Tuscany Registry of Rare Diseases. Anna Pierini, Federica Pieroni, Fabrizio Minichilli, Michela Rial and Fabrizio Bianchi Unit of Environmental Epidemiology, Institute of Clinical Physiology-CNR, Pisa Introduction: Amyotrophic Lateral Sclerosis (ALS) is the most common motor neuron disease with an incidence in Europe of approximately 2 per 100,000 per year. As the average disease duration from clinical onset is 3 years, prevalence is estimated at 6 per 100,000. In 90-95% of cases ALS occurs sporadically while 5-10% of cases are familiar. The specific cause of sporadic ALS is unknown while it has been hypothesized that some interactions can occur between genetic, environmental, and age-dependent risk factors. The Tuscany Registry of Rare Diseases (TRRD) was set up in 2005 and involves in data collection all public health centers in Tuscany. The Institute of Clinical Physiology-National Research Council (IFC-CNR) manages the TRRD which is part of the National Network for Rare Diseases leaded by Italian Health Institute. Objectives: To produce knowledge on ALS epidemiology: prevalence/incidence/survival, in Tuscany region. Methods: Age-standardized prevalence and incidence were calculated. Survival analysis was carried out by Kaplan-Meier method. Analysis was performed by Stata v.10. Results: In the period 2005-2009, it comes out in the TRDD are included 282 new patients with definite ALS, 234 of whom resident in Tuscany (122 men-112 women). The standardized average annual incidence in the study period (153 patients, age 20-99) is 0.81/100,000, the highest is 1.15/100,000 in 2006; the highest average incidence rate (2.41/100,000) is amongst patients aged 60-79. On 31 December 2009 (mortality data updated to 2008), the standardized prevalence was 5.36/100,000 (the highest registered is 5.87/100,000 in 2007). Survival rates at 1, 2, 3, 4 and 5 years after the onset were 86%, 70%, 58%, 48% and 44%, respectively. Conclusions: The results of the present study indicate that the incidence and prevalence of ALS in the Tuscany population seems to be lower compared to other populations and the survival of patients was longer than previously reported

Rare diseases and congenital malformations integrated registry in Tuscany-Italy

Aims: Rare diseases (RD) are life-threatening or chronically debilitating diseases with prevalence of fewer than 5 cases among 10,000. For these conditions there is lack of scientific information, research, diagnosis, and treatment. To obtain epidemiological information the Italian Network of RD was set up in 2001. The Network is formed by Presidia specifically identified by each Region for diagnosis/treatment and by regional and national Registries. Among the 583 RDs eligible for free healthcare treatment, congenital malformation (CM) is the most frequent group with 254 diseases. Analysis of data and information available from both registries is therefore crucial to improve knowledge on the actual size of the CMs phenomenon also by activating an integrated system of registration. Methods: Linkage analysis was performed on data of the Tuscany Registries of CMs (RTDC) and of RDs (RTMR) for cases observed from 1992 to 2006 over approximately 420,000 surveilled resident births. Five specific rare CMs were selected: microcephaly, acrocephalosyndactyly, lissencephaly, oesophageal atresia, Down syndrome. Variables used for linkage were CM, names, date of birth, and residence. Results: Undernotification of rare CM cases more difficult to diagnose at birth like the lissencephaly was observed in the RTDC compared to the RTMR, while overlapping of record of cases emerged for other anomalies such as the Down syndrome. Linkage has allowed in some cases to better specify the diagnosis and to provide missing information. Conclusions: Use of different information sources has enabled to reduce undernotification of cases and to mutually validate information

Il Registro Regionale Malattie Rare della Toscana

Rare diseases (RDs) are life-threatening or chronically debilitating diseases with a prevalence lower than 5 cases among 10,000. For these conditions there is a lack of scientific information, research, diagnosis, treatment and expert availability. In 2001 the Italian Network for RDs was set up in order to obtain epidemiological information on these diseases. Presidia specifically identified by the Regions for diagnosis/treatment and by the Regional and National Registries are part of the national Network. Some RDs Registries were also created at the regional level. The Tuscany Registry for Rare Diseases (RTMR) is a network of presidia identified by the regional administration. The single presidium refers to a coordination centre for each group of RDs. The "G. Monasterio" Foundation for Medical Research and Public Health, formerly Institute of Clinical Physiology of the CNR, in charge of the Registry management, has produced a protocol, a questionnaire and a software allowing electronic registration of RD cases treated in Tuscany health centres via the Internet. Additionally, the local Register uploads local cases into the National Registry for RDs, coordinated by the Istituto Superiore di Sanit? (ISS). The registration questionnaire is divided in several sections and seeks information on patient, disease, diagnosis, tests performed for diagnosis, besides health condition and treatment. Cases are patients, dead or alive, diagnosed and followed by the Tuscan Presidia of the Regional Health System, including those residing outside the Region, properly diagnosed with one of the RDs included in the 279/2001 Ministerial Decree\u27s list. To ensure privacy, data can only be accessed using a login username and password assigned to each user. Further information is available on the Tuscan Registry for Rare Diseases website: www.rtmr.i

Ancient Plasmodium genomes shed light on the history of human malaria

Malaria-causing protozoa of the genus Plasmodium have exerted one of the strongest selective pressures on the human genome, and resistance alleles provide biomolecular footprints that outline the historical reach of these species1. Nevertheless, debate persists over when and how malaria parasites emerged as human pathogens and spread around the globe1,2. To address these questions, we generated high-coverage ancient mitochondrial and nuclear genome-wide data from P. falciparum, P. vivax and P. malariae from 16 countries spanning around 5,500 years of human history. We identified P. vivax and P. falciparum across geographically disparate regions of Eurasia from as early as the fourth and first millennia bce, respectively; for P. vivax, this evidence pre-dates textual references by several millennia3. Genomic analysis supports distinct disease histories for P. falciparum and P. vivax in the Americas: similarities between now-eliminated European and peri-contact South American strains indicate that European colonizers were the source of American P. vivax, whereas the trans-Atlantic slave trade probably introduced P. falciparum into the Americas. Our data underscore the role of cross-cultural contacts in the dissemination of malaria, laying the biomolecular foundation for future palaeo-epidemiological research into the impact of Plasmodium parasites on human history. Finally, our unexpected discovery of P. falciparum in the high-altitude Himalayas provides a rare case study in which individual mobility can be inferred from infection status, adding to our knowledge of cross-cultural connectivity in the region nearly three millennia ago

Pecten as a new substrate for IcPD dating : the Quaternary raised beaches in the Gulf of Corinth, Greece

Intra-crystalline protein diagenesis (IcPD), a recent development of amino acid racemization dating (AAR), is now established as a reliable geochronological tool for the Quaternary. However, extending the method to new biominerals requires extensive testing in order to provide evidence for the closed-system behaviour of the intra-crystalline proteins and to assess the temporal span that can be covered. Here we present results from high-temperature experiments on the IcPD of the bivalve Pecten, demonstrating that a fraction of proteins can be isolated from a bleach-resistant mineral matrix, which effectively operates as a closed system under conditions of accelerated diagenesis in the laboratory. Analyses of Pecten from the well-dated terrace system of the Gulf of Corinth (Greece) provided a pilot test for the integrity of the intra-crystalline fraction in subfossil shells. The small sample sizes in this preliminary study preclude a full assessment of the aminostratigraphic power of Pecten IcPD, but a concordance is observed between the extent of IcPD and sites dating from between MIS 5 and MIS 11. We conclude that Pecten is a potentially good substrate for IcPD dating in the Mediterranean, and that the temporal limit of the technique in this area lies beyond MIS 11

Ponatinib alone or with chemo-immunotherapy in heavily pre-treated Philadelphia-like acute lymphoblastic leukemia: a CAMPUS ALL real-life study

Not available

Ancient Plasmodium genomes shed light on the history of human malaria

Malaria-causing protozoa of the genus Plasmodium have exerted one of the strongest selective pressures on the human genome, and resistance alleles provide biomolecular footprints that outline the historical reach of these species1. Nevertheless, debate persists over when and how malaria parasites emerged as human pathogens and spread around the globe1,2. To address these questions, we generated high-coverage ancient mitochondrial and nuclear genome-wide data from P. falciparum, P. vivax and P. malariae from 16 countries spanning around 5,500 years of human history. We identified P. vivax and P. falciparum across geographically disparate regions of Eurasia from as early as the fourth and first millennia bce, respectively; for P. vivax, this evidence pre-dates textual references by several millennia3. Genomic analysis supports distinct disease histories for P. falciparum and P. vivax in the Americas: similarities between now-eliminated European and peri-contact South American strains indicate that European colonizers were the source of American P. vivax, whereas the trans-Atlantic slave trade probably introduced P. falciparum into the Americas. Our data underscore the role of cross-cultural contacts in the dissemination of malaria, laying the biomolecular foundation for future palaeo-epidemiological research into the impact of Plasmodium parasites on human history. Finally, our unexpected discovery of P. falciparum in the high-altitude Himalayas provides a rare case study in which individual mobility can be inferred from infection status, adding to our knowledge of cross-cultural connectivity in the region nearly three millennia ago.This project was funded by the National Science Foundation, grants BCS-2141896 and BCS-1528698; the European Research Council (ERC) under the European Union’s Horizon 2020 programme, grants 851511-MICROSCOPE (to S. Schiffels), 771234-PALEoRIDER (to W.H.) and starting grant 805268-CoDisEASe (to K.I.B.); and the ERC starting grant Waves ERC758967 (supporting K. Nägele and S.C.). We thank the Max Planck-Harvard Research Center for the Archaeoscience of the Ancient Mediterranean for supporting M. Michel, E. Skourtanioti, A.M., R.A.B., L.C.B., G.U.N., N.S., V.V.-M., M. McCormick, P.W.S., C.W. and J.K.; the Kone Foundation for supporting E.K.G. and A.S.; and the Faculty of Medicine and the Faculty of Biological and Environmental Sciences at the University of Helsinki for grants to E.K.G. A.S. thanks the Magnus Ehrnrooth Foundation, the Sigrid Jusélius Foundation, the Finnish Cultural Foundation, the Academy of Finland, the Life and Health Medical Foundation and the Finnish Society of Sciences and Letters. M.C.B. acknowledges funding from: research project PID2020-116196GB-I00 funded by MCIN/AEI/10.13039/501100011033; the Spanish Ministry of Culture; the Chiang Ching Kuo Foundation; Fundación Palarq; the EU FP7 Marie Curie Zukunftskolleg Incoming Fellowship Programme, University of Konstanz (grant 291784); STAR2-Santander Universidades and Ministry of Education, Culture and Sports; and CEI 2015 project Cantabria Campus Internacional. M.E. received support from the Czech Academy of Sciences award Praemium Academiae and project RVO 67985912 of the Institute of Archaeology of the Czech Academy of Sciences, Prague. This work has been funded within project PID2020-115956GB-I00 ‘Origen y conformación del Bronce Valenciano’, granted by the Ministry of Science and Innovation of the Government of Spain, and grants from the Canadian Institutes for Health Research (MZI187236), Research Nova Scotia (RNS 2023-2565) and The Center for Health Research in Developing Countries. D.K. is the Canada research chair in translational vaccinology and inflammation. R.L.K. acknowledges support from a 2019 University of Otago research grant (Human health and adaptation along Silk Roads, a bioarchaeological investigation of a medieval Uzbek cemetery). P.O. thanks the Jane and Aatos Erkko Foundation, the Finnish Cultural Foundation and the Academy of Finland. S. Peltola received support from the Emil Aaltonen Foundation and the Ella and Georg Ehrnrooth Foundation. D.C.S.-G. thanks the Generalitat Valenciana (CIDEGENT/2019/061). E.W.K. acknowledges support from the DEEPDEAD project, HERA-UP, CRP (15.055) and the Horizon 2020 programme (grant 649307). M. Spyrou thanks the Elite program for postdocs of the Baden-Württemberg Stiftung. Open access funding provided by Max Planck Society

Differential cross section measurements for the production of a W boson in association with jets in proton–proton collisions at √s = 7 TeV

Measurements are reported of differential cross sections for the production of a W boson, which decays into a muon and a neutrino, in association with jets, as a function of several variables, including the transverse momenta (pT) and pseudorapidities of the four leading jets, the scalar sum of jet transverse momenta (HT), and the difference in azimuthal angle between the directions of each jet and the muon. The data sample of pp collisions at a centre-of-mass energy of 7 TeV was collected with the CMS detector at the LHC and corresponds to an integrated luminosity of 5.0 fb[superscript −1]. The measured cross sections are compared to predictions from Monte Carlo generators, MadGraph + pythia and sherpa, and to next-to-leading-order calculations from BlackHat + sherpa. The differential cross sections are found to be in agreement with the predictions, apart from the pT distributions of the leading jets at high pT values, the distributions of the HT at high-HT and low jet multiplicity, and the distribution of the difference in azimuthal angle between the leading jet and the muon at low values.United States. Dept. of EnergyNational Science Foundation (U.S.)Alfred P. Sloan Foundatio