Epoetin alfa increases frataxin production in Friedreich's ataxia without affecting hematocrit.

Objective of the study was to test the efficacy, safety, and tolerability of two single doses of Epoetin alfa in patients with Friedreich's ataxia. Ten patients were treated subcutaneously with 600 IU/kg for the first dose, and 3 months later with 1200 IU/kg. Epoetin alfa had no acute effect on frataxin, whereas a delayed and sustained increase in frataxin was evident at 3 months after the first dose (+35%; P < 0.05), and up to 6 months after the second dose (+54%; P < 0.001). The treatment was well tolerated and did not affect hematocrit, cardiac function, and neurological scale. Single high dose of Epoetin alfa can produce a considerably larger and sustained effect when compared with low doses and repeated administration schemes previously adopted. In addition, no hemoglobin increase was observed, and none of our patients required phlebotomy, indicating lack of erythropoietic effect of single high dose of erythropoietin. © 2010 Movement Disorder Society

Un'esperienza di teatro scientifico all'elementari

Obiettivo: Facendo seguito a uno studio portato avanti nell’ambito di Miti e Geologia (Lanza & Negrete 2007) si sono volute sperimentare alcune conclusioni di quello studio che caldeggiava l’utilizzo di miti e leggende popolari in ambito scolastico per la diffusione della conoscenza riguardante il nostro pianeta. Il target che era all’inizio rappresentato dai bambini di seconda e quarta elementare (della Scuola primaria Federico Di Donato di Roma) si è poi esteso anche agli insegnanti e persino ai genitori di quegli alunni vedendoli tutti coinvolti come soggetti attivi nell’ambito di questo progetto. Il coinvolgimento e l’entusiasmo partecipativo si è sviluppato anche in seguito alla modalità di realizzazione di questo progetto iniziale. La leggenda del pescatore Colapesce è stata ripresa e riadattata in uno script per celebrare il centenario del terremoto di Messina (1908) ai fini di una vera e propria rappresentazione teatrale fatta dai bambini. Dunque lo script alla fine conteneva non soltanto la favola con i suoi protagonisti classici: un Re, una principessa e un pescatore ma anche una parte più moderna dove i protagonisti erano un gruppetto di sismologi interpretati da alcuni bambini di quarta elementare. L’inserimento di contenuti scientifici all’interno della rappresentazione è stata resa agevolmente possibile con l’introduzione di oggetti, quali una mappa della sismicità in Italia e un sismometro. Oggetti che hanno consentito agli alunni di comprendere non soltanto come si studiano i terremoti ma anche che la prevenzione è il metodo migliore per conviverci. Dopo tre mesi di preparazione ottenuta anche grazie alla collaborazione di un regista di Messina coadiuvato da un esperto in psico-dramma, gli alunni erano pronti per recitare davanti a tutta la scuola nell’ambito della XIX settimana della cultura scientifica (il 27 Marzo 2009). A giudicare dall’entusiasmo generale di tutti, attori, spettatori e organizzatori è stato un successo. Tuttavia se la rappresentazione finale costituisce l’ultima tappa, di fondamentale importanza sarà valutare come si è sviluppato l’apprendimento nel corso dei tre mesi di preparazione a questo evento e quanto rimarrà a qualche mese di distanza soprattutto del contenuto scientifico agito sulla scena. Mentre un altro aspetto assumerà valutare quanto il contenuto favolistico abbia ben disposto gli alunni ad accogliere nozioni nuove e quanto invece li abbia distratti (soprattutto i più piccoli, quelli di seconda elementare). Si può far notare che l’apprendimento ha coinvolto attivamente anche gli insegnanti che non soltanto si sono mostrati piacevolmente disponibili ad approfondire i contenuti scientifici ai fini della rappresentazione, ma hanno utilizzato gli stessi per scegliere gli attori e per suggerire modifiche allo script iniziale. Attualmente sono in corso delle analisi con questionari per alunni e insegnanti al fine di individuarne l’efficacia comunicativa e tirare le conclusioni di questa esperienza

Seismic waves and acoustic waves: from earthquake to music

INGV is currently the largest European scientific institution dealing with Earth Sciences research and real-time surveillance, early warning, and forecast activities in geophysics and volcanology. The Laboratorio Didattica e Divulgazione Scientifica of INGV organizes every year rich educational and outreach activities with schools of different levels and with general public to convey scientific knowledge and to promote research on science and nature, focusing on volcanic and seismic hazard. The activities encompass a wide variety of formats, such as the opening of our labs to schools for guided visits, contributing to national (e.g., the Italian “Week of the Scientific Culture”, launched by the Ministry of Education and Research) and international (e.g., the European “Night of the Researchers”) events, editing educational videos, creating multimedia tools also available on the Web. Moreover, we contribute to expositions and science festivals organizing exhibitions with experiments, models, and exhibits designed to teaching and learning geophysics. Finally, we offer guided visits to the control rooms run by our Institute, which ensures the round-the-clock volcanic and seismic surveillance of the whole Italian territory. During the Week of the Scientific Culture and the Night of the Researchers we opened our Institute to the general public, in order to show our laboratories, to talk about new researches on Earth Sciences and to explain the volcanic and seismic risk and the related surveillance activities. These initiatives are widely appreciated by the community and we organized special events with the aim to inspire curiosity toward scientific research, and to facilitate the approach of the general public to science and nature. The special event of the 2010 programmes was a scientific-musical format: Seismic waves and acoustic waves, from earthquake to music. The aim of this project was to involve the public in scientific events offering happening where the scientific language is mediate through the language of the music. In this way, scientific phenomenon are brought in using emotion, making easier the understanding of the scientific themes. The format started with short lectures on earthquake and seismic wave propagation to move on the comparison between the seismic waves and the acoustic waves. We used seismograms, acoustic instruments, the voice, and the Earth sounds to explain the relation between earthquake waves and music. The scientific talks were organized to create a trail that, through emotion and curiosity, guides the public to the discovery and comprehension of the scientific phenomenon. The final part of the event was devoted to classical/jazz/blues live concerts performed by groups and ensembles, some of them arranged by INGV researchers. As a general result, thanks to this project we joined science and community, merging the INGV mission with the public expectation. This scientific-musical format represented an experimental outreach project, new, stimulating, and appreciated by the audience that can be used as good practice of scientific divulgation

At the intersection of cultural and natural heritage: Distribution and conservation of the type localities of Italian endemic vascular plants

We conducted a GIS spatial analysis with the aim of providing the first quantitative large-scale overview of the distribution patterns of 1536 type localities (loci classici) of 1216 Italian endemic vascular plants and their relationship with a set of descriptive variables. Whereas some variables were used to model the presence-absence distribution patterns of the type localities for the whole set of endemics as well as for the subset of narrow endemics, others (e.g., presence inside or outside protected areas and Italian Important Plant Areas) were considered with the purpose of assessing potential assets or risks for conservation. The largest number of type localities was found within the Mediterranean biogeographic region (1134), followed by the Alpine region (306) and Continental region (96). A total of 670 locations are located on islands, whereas 866 are located on the Italian mainland (139 and 124 in the case of narrow endemics, respectively). A large number of type localities are located in mountainous areas and along the coastline, which can be seen as a potential risk for conservation. On the contrary, we detected a positive correlation with the distance from roads, which might be considered to be an asset. Importantly, 1030 type localities fall inside protected areas, whereas 506 localities fall outside protected areas, with 259 of these unprotected localities on islands. We propose considering the results of the analysis of the distribution of type localities of Italian endemics to be a strategic tool for conservation planning and resource management. Application of plant micro-reserves and integration of diverse legislation tools are suggested to strengthen efforts and increase conservation success

Vaccination coverage in healthcare workers: a multicenter cross-sectional study in Italy

IntroductionIn recent years, a phenomenon known as "vaccine hesitancy" has spread throughout the world, even among health workers, determining a reduction in vaccination coverage (VC). A study aimed at evaluating VC among healthcare workers (HCWs) in 10 Italian cities (L'Aquila, Genoa, Milan, Palermo, Sassari, Catanzaro, Ferrara, Catania, Naples, Messina) was performed.Materials and methodsAnnex 3 of the Presidential Decree n. 445 of 28 December 2000 was used to collect information on the vaccination status of HCWs. The mean and standard deviation (SD) were calculated with regard to the quantitative variable (age), while absolute and relative frequencies were obtained for categorical data (sex, professional profile, working sector, vaccination status). The connection between VC and the categorical variables was evaluated by chi-square method (statistical significance at p&lt;0.05). The statistical analyses were performed by SPSS and Stata software.ResultsA total of 3,454 HCWs participated in the project: 1,236 males and 2,218 females. The sample comprised: physicians (26.9%), trainee physicians (16.1%), nurses (17.2%) and other professional categories (9.8%). Low VC was generally recorded. Higher VC was found with regard to polio, hepatitis B, tetanus and diphtheria, while coverage was very low for measles, mumps, rubella, pertussis, chickenpox and influenza (20-30%). ConclusionsThis study revealed low VC rates among HCWs for all the vaccinations. Measures to increase VC are therefore necessary in order to prevent HCWs from becoming a source of transmission of infections with high morbidity and/or mortality both within hospitals and outside

A Combined Nucleic Acid and Protein Analysis in Friedreich Ataxia: Implications for Diagnosis, Pathogenesis and Clinical Trial Design

BACKGROUND: Friedreich's ataxia (FRDA) is the most common hereditary ataxia among caucasians. The molecular defect in FRDA is the trinucleotide GAA expansion in the first intron of the FXN gene, which encodes frataxin. No studies have yet reported frataxin protein and mRNA levels in a large cohort of FRDA patients, carriers and controls. METHODOLOGY/PRINCIPAL FINDINGS: We enrolled 24 patients with classic FRDA phenotype (cFA), 6 late onset FRDA (LOFA), all homozygous for GAA expansion, 5 pFA cases who harbored the GAA expansion in compound heterozygosis with FXN point mutations (namely, p.I154F, c.482+3delA, p.R165P), 33 healthy expansion carriers, and 29 healthy controls. DNA was genotyped for GAA expansion, mRNA/FXN was quantified in real-time, and frataxin protein was measured using lateral-flow immunoassay in peripheral blood mononuclear cells (PBMCs). Mean residual levels of frataxin, compared to controls, were 35.8%, 65.6%, 33%, and 68.7% in cFA, LOFA, pFA and healthy carriers, respectively. Comparison of both cFA and pFA with controls resulted in 100% sensitivity and specificity, but there was overlap between LOFA, carriers and controls. Frataxin levels correlated inversely with GAA1 and GAA2 expansions, and directly with age at onset. Messenger RNA expression was reduced to 19.4% in cFA, 50.4% in LOFA, 52.7% in pFA, 53.0% in carriers, as compared to controls (p<0.0001). mRNA levels proved to be diagnostic when comparing cFA with controls resulting in 100% sensitivity and specificity. In cFA and LOFA patients mRNA levels correlated directly with protein levels and age at onset, and inversely with GAA1 and GAA2. CONCLUSION/SIGNIFICANCE: We report the first explorative study on combined frataxin and mRNA levels in PBMCs from a cohort of FRDA patients, carriers and healthy individuals. Lateral-flow immunoassay differentiated cFA and pFA patients from controls, whereas determination of mRNA in q-PCR was sensitive and specific only in cFA

Post-intervention Status in Patients With Refractory Myasthenia Gravis Treated With Eculizumab During REGAIN and Its Open-Label Extension

OBJECTIVE: To evaluate whether eculizumab helps patients with anti-acetylcholine receptor-positive (AChR+) refractory generalized myasthenia gravis (gMG) achieve the Myasthenia Gravis Foundation of America (MGFA) post-intervention status of minimal manifestations (MM), we assessed patients' status throughout REGAIN (Safety and Efficacy of Eculizumab in AChR+ Refractory Generalized Myasthenia Gravis) and its open-label extension. METHODS: Patients who completed the REGAIN randomized controlled trial and continued into the open-label extension were included in this tertiary endpoint analysis. Patients were assessed for the MGFA post-intervention status of improved, unchanged, worse, MM, and pharmacologic remission at defined time points during REGAIN and through week 130 of the open-label study. RESULTS: A total of 117 patients completed REGAIN and continued into the open-label study (eculizumab/eculizumab: 56; placebo/eculizumab: 61). At week 26 of REGAIN, more eculizumab-treated patients than placebo-treated patients achieved a status of improved (60.7% vs 41.7%) or MM (25.0% vs 13.3%; common OR: 2.3; 95% CI: 1.1-4.5). After 130 weeks of eculizumab treatment, 88.0% of patients achieved improved status and 57.3% of patients achieved MM status. The safety profile of eculizumab was consistent with its known profile and no new safety signals were detected. CONCLUSION: Eculizumab led to rapid and sustained achievement of MM in patients with AChR+ refractory gMG. These findings support the use of eculizumab in this previously difficult-to-treat patient population. CLINICALTRIALSGOV IDENTIFIER: REGAIN, NCT01997229; REGAIN open-label extension, NCT02301624. CLASSIFICATION OF EVIDENCE: This study provides Class II evidence that, after 26 weeks of eculizumab treatment, 25.0% of adults with AChR+ refractory gMG achieved MM, compared with 13.3% who received placebo

Minimal Symptom Expression' in Patients With Acetylcholine Receptor Antibody-Positive Refractory Generalized Myasthenia Gravis Treated With Eculizumab

The efficacy and tolerability of eculizumab were assessed in REGAIN, a 26-week, phase 3, randomized, double-blind, placebo-controlled study in anti-acetylcholine receptor antibody-positive (AChR+) refractory generalized myasthenia gravis (gMG), and its open-label extension